# RGD-PIPELINE: ftp-file-extracts # MODULE: genes build 2023-05-19 # GENERATED-ON: 2023/11/24 # PURPOSE: information about active Bonobo genes extracted from RGD database # SPECIES: Pan paniscus (bonobo/pygmy chimpanzee) NCBI:txid9597 # CONTACT: rgd.data@mcw.edu # FORMAT: tab delimited text # NOTES: multiple values in a single column are separated by ';' # ### Mar 11 2020 added Ensembl map positions ### Jan 18 2021 discontinued columns: UNIGENE_ID, TIGR_ID, SPLICE_RGD_ID, SPLICE_SYMBOL ### Jan 19 2021 added Mhudiblu_PPA_v0 assembly positions ### Apr 18 2022 added export of canonical proteins in column 27 ### May 19 2023 added NHGRI_mPanPan1-v1.1-0.1.freeze_pri assembly positions # #COLUMN INFORMATION: # (First 38 columns are in common between all species) # #1 GENE_RGD_ID the RGD_ID of the gene #2 SYMBOL official gene symbol #3 NAME gene name #4 GENE_DESC gene description (if available) #5 CHROMOSOME_mPanPan1 chromosome for reference assembly NHGRI_mPanPan1-v1.1-0.1.freeze_pri #6 CHROMOSOME_PanPan1.1 chromosome for assembly PanPan1.1 #7 CHROMOSOME_Mhudiblu_PPA_v0 chromosome for assembly Mhudiblu_PPA_v0 #8 FISH_BAND fish band information #9 START_POS_mPanPan1 start position for NHGRI_mPanPan1-v1.1-0.1.freeze_pri assembly #10 STOP_POS_mPanPan1 stop position for NHGRI_mPanPan1-v1.1-0.1.freeze_pri assembly #11 STRAND_mPanPan1 strand information for NHGRI_mPanPan1-v1.1-0.1.freeze_pri assembly #12 START_POS_PanPan1.1 start position for PanPan1.1 assembly #13 STOP_POS_PanPan1.1 stop position for PanPan1.1 assembly #14 STRAND_PanPan1.1 strand information for PanPan1.1 assembly #15 START_POS_Mhudiblu_PPA_v0 start position for Mhudiblu_PPA_v0 assembly #16 STOP_POS_Mhudiblu_PPA_v0 stop position for Mhudiblu_PPA_v0 assembly #17 STRAND_Mhudiblu_PPA_v0 strand information for Mhudiblu_PPA_v0 assembly #18 CURATED_REF_RGD_ID RGD_ID of paper(s) used to curate gene #19 CURATED_REF_PUBMED_ID PUBMED_ID of paper(s) used to curate gene #20 UNCURATED_PUBMED_ID PUBMED ids of papers associated with the gene at NCBI but not used for curation #21 NCBI_GENE_ID NCBI Gene ID #22 UNIPROT_ID UniProtKB id(s) #23 GENE_REFSEQ_STATUS gene RefSeq Status (from NCBI) #24 GENBANK_NUCLEOTIDE GenBank Nucleotide ID(s) #25 (UNUSED) #26 GENBANK_PROTEIN GenBank Protein ID(s) #27 CANONICAL_PROTEIN UniProt canonical protein(s) #28 MARKER_RGD_ID RGD_ID(s) of markers associated with given gene #29 MARKER_SYMBOL marker symbol #30 OLD_SYMBOL old symbol alias(es) #31 OLD_NAME old name alias(es) #32 QTL_RGD_ID RGD_ID(s) of QTLs associated with given gene #33 QTL_SYMBOL QTL symbol #34 NOMENCLATURE_STATUS nomenclature status #35 (UNUSED) #36 (UNUSED) #37 GENE_TYPE gene type #38 ENSEMBL_ID Ensembl Gene ID #39 CHROMOSOME_ENSEMBL chromosome for primary Ensembl assembly #40 START_POS_ENSEMBL start position for primary Ensembl assembly #41 STOP_POS_ENSEMBL stop position for primary Ensembl assembly #42 STRAND_ENSEMBL strand information for primary Ensembl assembly # GENE_RGD_ID SYMBOL NAME GENE_DESC CHROMOSOME_mPanPan1 CHROMOSOME_PanPan1.1 CHROMOSOME_Mhudiblu_PPA_v0 FISH_BAND START_POS_mPanPan1 STOP_POS_mPanPan1 STRAND_mPanPan1 START_POS_PanPan1.1 STOP_POS_PanPan1.1 STRAND_PanPan1.1 START_POS_Mhudiblu_PPA_v0 STOP_POS_Mhudiblu_PPA_v0 STRAND_Mhudiblu_PPA_v0 CURATED_REF_RGD_ID CURATED_REF_PUBMED_ID UNCURATED_PUBMED_ID NCBI_GENE_ID UNIPROT_ID GENE_REFSEQ_STATUS GENBANK_NUCLEOTIDE (UNUSED) GENBANK_PROTEIN CANONICAL_PROTEIN MARKER_RGD_ID MARKER_SYMBOL OLD_SYMBOL OLD_NAME QTL_RGD_ID QTL_SYMBOL NOMENCLATURE_STATUS (UNUSED) (UNUSED) GENE_TYPE ENSEMBL_ID CHROMOSOME_ENSEMBL START_POS_ENSEMBL STOP_POS_ENSEMBL STRAND_ENSEMBL 11667972 CYLC2 cylicin 2 ENCODES a protein that exhibits structural constituent of cytoskeleton (inferred); INVOLVED IN cytoskeleton organization (inferred); ASSOCIATED WITH genetic disease (ortholog); intellectual disability (ortholog) 9 9 9 36357189 36387901 - 102181250 102192116 + 74188934 74208842 + 30032202 100967453 A0A2R8ZFM3 MODEL JARIFH010000010;XM_003820655;XM_055117793;XR_004673407;XR_008626661;XR_008626662 XP_054973768 A0A2R8ZFM3 cylicin-2 protein-coding ENSPPAG00000016079 9 102181202 102192296 + 11667981 LOC100967601 nuclear envelope pore membrane protein POM 121 ASSOCIATED WITH genetic disease (ortholog); Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability (ortholog); Neurodevelopmental Disorders (ortholog); FOUND IN nuclear envelope (ortholog); nuclear membrane (ortholog); nucleoplasm (ortholog) 7 139862763 139919494 - 30032202 100967601 A0A2R9B560;A0A2R9BA93 MODEL JARIFH010000008;XM_034952061;XM_034952062;XM_034952063;XM_034952064;XM_055114510;XM_055114511;XM_055114512;XM_055114513;XM_055114514;XM_055114515 XP_034807952;XP_034807953;XP_034807954;XP_034807955;XP_054970485;XP_054970486;XP_054970487;XP_054970488;XP_054970489;XP_054970490 A0A2R9B560 POM121 POM121 transmembrane nucleoporin;nuclear envelope pore membrane protein POM 121C-like;putative nuclear envelope pore membrane protein POM 121B APPROVED protein-coding ENSPPAG00000035208 11667982 PDCL phosducin like ENCODES a protein that exhibits protein-containing complex binding (ortholog); INVOLVED IN heterotrimeric G-protein complex assembly (ortholog); negative regulation of protein refolding (ortholog); protein folding (ortholog); ASSOCIATED WITH genetic disease (ortholog); FOUND IN cytoplasm (inferred) 9 9 9 16519929 16530246 + 122283877 122294174 - 93949613 93959913 - 22301074 100967777 A0A2R8ZQ76 MODEL JARIFH010000010;XM_003833129 XP_003833177 A0A2R8ZQ76 phosducin-like protein-like protein-coding ENSPPAG00000026211 9 122283877 122294174 - 11667990 LOC100968071 60S ribosomal protein L18a-like ENCODES a protein that exhibits structural constituent of ribosome (inferred); INVOLVED IN translation (inferred); FOUND IN ribonucleoprotein complex (inferred); ribosome (inferred) 5 5 5 105237182 105237832 - 112989072 112989735 - 107187642 107188283 - 22301074;30032202 100968071 A0A2R9B3M1;A0A2R9CFF5 MODEL JARIFH010000006;XM_034960332 XP_034816223 protein-coding ENSPPAG00000035235;ENSPPAG00000042559 19 18315535 18318978 + 11667996 JUND JunD proto-oncogene, AP-1 transcription factor subunit ENCODES a protein that exhibits DNA binding (ortholog); DNA-binding transcription activator activity, RNA polymerase II-specific (ortholog); DNA-binding transcription factor activity (ortholog); INVOLVED IN cellular response to calcium ion (ortholog); cellular response to fatty acid (ortholog); cellular response to hypoxia (ortholog); PARTICIPATES IN platelet-derived growth factor signaling pathway; ASSOCIATED WITH amyotrophic lateral sclerosis type 1 (ortholog); cardiomyopathy (ortholog); Chemical and Drug Induced Liver Injury (ortholog); FOUND IN nucleoplasm (ortholog); nucleus (ortholog); protein-containing complex (ortholog) 19 19 19 22145537 22147409 - 18728466 18729502 - 17755331 17757164 - 30032202 100969299 MODEL JARIFH010000020;XM_008971037 XP_008969285 transcription factor JunD;transcription factor jun-D protein-coding 11668001 DAOA D-amino acid oxidase activator ENCODES a protein that exhibits enzyme activator activity (ortholog); enzyme binding (ortholog); ASSOCIATED WITH Anal Atresia, Hypospadias, and Penoscrotal Inversion (ortholog); bipolar disorder (ortholog); genetic disease (ortholog); FOUND IN Golgi apparatus (ortholog); mitochondrion (ortholog); perinuclear region of cytoplasm (ortholog) 13 13 13 105651990 105669475 + 105751376 105775112 + 86607991 86631776 + 22301074 100969735 MODEL JARIFH010000014;XM_008957449;XM_055096986 XP_054952961 protein-coding 11668008 XXYLT1 xyloside xylosyltransferase 1 ENCODES a protein that exhibits glycosyltransferase activity (inferred); magnesium ion binding (inferred); manganese ion binding (inferred); INVOLVED IN O-glycan processing (inferred); ASSOCIATED WITH atrial fibrillation (ortholog); COVID-19 (ortholog); genetic disease (ortholog); FOUND IN endoplasmic reticulum membrane (inferred); membrane (inferred) 3 3 3 193001923 193205747 - 202675557 202873399 - 192374972 192574398 - 30032202 100970153 A0A2R9CJE0;A0A2R9CJF8;A0A2R9CM30;A0A2R9CM35 MODEL JARIFH010000004;XM_003807641;XM_055111001;XR_008625016;XR_008625017 XP_003807689;XP_054966976 A0A2R9CM30 protein-coding ENSPPAG00000043632 3 202675557 202873399 - 11668016 PIGM phosphatidylinositol glycan anchor biosynthesis class M ENCODES a protein that exhibits mannosyltransferase activity (ortholog); INVOLVED IN GPI anchor biosynthetic process (ortholog); ASSOCIATED WITH autoimmune interstitial lung, joint, and kidney disease (ortholog); gastrointestinal stromal tumor (ortholog); genetic disease (ortholog) 1 1 1 89560492 89567215 + 139303208 139307797 - 135378843 135387789 - 22301074;30032202 100970177 MODEL JARIFH010000001;XM_003811895 XP_003811943 GPI mannosyltransferase 1 protein-coding 11668021 ORC2 origin recognition complex subunit 2 ENCODES a protein that exhibits DNA replication origin binding (inferred); INVOLVED IN DNA replication (inferred); DNA replication initiation (inferred); ASSOCIATED WITH genetic disease (ortholog); Neurodevelopmental Disorders (ortholog); Primary Pulmonary Hypertension, 1 (ortholog); FOUND IN centrosome (ortholog); chromosome, telomeric region (ortholog); nuclear origin of replication recognition complex (ortholog) 2B 2B 2B 103550709 103615470 - 206325661 206380874 - 88166351 88221618 - 22301074;30032202 100970328 A0A2R9AA19 MODEL JARIFH010000003;XM_003820719;XM_008974162;XM_034954787;XM_055108947 XP_003820767;XP_008972410;XP_034810678;XP_054964922 A0A2R9AA19 protein-coding ENSPPAG00000030211 2B 206325661 206380647 - 11668050 LOC100971334 uncharacterized LOC100971334 13 13 13 106556480 106557872 + 106659852 106661082 + 87519254 87520510 + 100971334 MODEL JARIFH010000014;XR_158540 ncrna 11668055 CEACAM5 CEA cell adhesion molecule 5 ENCODES a protein that exhibits GPI anchor binding (inferred); identical protein binding (inferred); protein homodimerization activity (inferred); INVOLVED IN heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules (inferred); homophilic cell adhesion via plasma membrane adhesion molecules (inferred); homotypic cell-cell adhesion (inferred); ASSOCIATED WITH Carpenter Syndrome 2 (ortholog); congenital hypoplastic anemia (ortholog); craniosynostosis (ortholog); FOUND IN apical plasma membrane (inferred); basolateral plasma membrane (inferred); cell surface (inferred) 19 19 19 49685611 49707631 + 47105539 47126707 + 38599814 38620954 + 30032202 100973847 A0A2R9ASF4;A0A2R9ASF5 MODEL JARIFH010000020;XM_008964845;XM_008964846;XM_008964847;XM_008964848;XM_008964849;XM_057300626 XP_008963093;XP_008963094;XP_008963096;XP_057156609 A0A2R9ASF4 carcinoembryonic antigen related cell adhesion molecule 5;carcinoembryonic antigen-related cell adhesion molecule 5 APPROVED protein-coding ENSPPAG00000033350 19 47105539 47124284 + 11668080 ZNF107 zinc finger protein 107 ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN regulation of DNA-templated transcription (inferred); ASSOCIATED WITH genetic disease (ortholog); pleomorphic xanthoastrocytoma (ortholog) 7 7 7 128175278 128219142 + 64331784 64374773 + 61487006 61530864 - 30032202 100974636 A0A2R9BWQ6;A0A2R9C2L7 MODEL JARIFH010000008;XM_008967727;XM_034964252;XM_055114983 XP_008965975;XP_054970958 A0A2R9BWQ6 LOC100974636 APPROVED protein-coding ENSPPAG00000039306 11668088 CENPL centromere protein L ASSOCIATED WITH 1q24 Deletion Syndrome (ortholog); antithrombin III deficiency (ortholog); autoimmune lymphoproliferative syndrome (ortholog); FOUND IN inner kinetochore (ortholog) 1 1 1 75575208 75605669 + 153020837 153045866 - 149317149 149342267 - 100975039 A0A2R8ZFA5;A0A2R8ZIP3 MODEL JARIFH010000001;XM_003824676;XM_034940906;XM_055111376;XM_055111381 XP_003824724;XP_054967351;XP_054967356 A0A2R8ZIP3 LOC103787112 uncharacterized LOC103787112;uncharacterized protein LOC103787112 PROVISIONAL protein-coding ENSPPAG00000015515 1 153020837 153045866 - 11668101 ITFG1 integrin alpha FG-GAP repeat containing 1 ASSOCIATED WITH genetic disease (ortholog); glycogen storage disease IXb (ortholog); FOUND IN membrane (inferred) 16 16 16 62515848 62819104 - 46305573 46611710 - 27416955 27720197 - 30032202 100976011 A0A2R9C1Y2;A0A2R9C2H8 MODEL JARIFH010000017;XM_003819828 XP_003819876 A0A2R9C2H8 protein-coding ENSPPAG00000040718 16 46305573 46613463 - 11668123 C5H5orf24 chromosome 5 C5orf24 homolog ASSOCIATED WITH familial adenomatous polyposis 1 (ortholog); Hereditary Neoplastic Syndromes (ortholog); Neurodevelopmental Disorders (ortholog) 5 5 5 128282350 128296116 + 136390786 136404092 + 130247436 130261173 + 100977103 A0A2R9CPD9 MODEL JARIFH010000006;XM_003829267;XM_008954642;XM_008954643 XP_003829315;XP_008952890 A0A2R9CPD9 UPF0461 protein C5orf24 homolog;chromosome 5 open reading frame, human C5orf24 APPROVED protein-coding ENSPPAG00000042795 11668136 MRPS12 mitochondrial ribosomal protein S12 ENCODES a protein that exhibits structural constituent of ribosome (inferred); INVOLVED IN translation (inferred); ASSOCIATED WITH genetic disease (ortholog); maturity-onset diabetes of the young type 1 (ortholog); type 2 diabetes mellitus (ortholog); FOUND IN mitochondrial small ribosomal subunit (inferred); ribosome (inferred); small ribosomal subunit (inferred) 19 19 19 47105004 47107098 + 44586124 44588589 + 36037185 36039801 + 22301074;30032202 100978995 A0A2R9CA13 MODEL JARIFH010000020;XM_003812254;XM_003812255 XP_003812302;XP_003812303 A0A2R9CA13 28S ribosomal protein S12, mitochondrial protein-coding ENSPPAG00000041637 19 44586124 44588589 + 11668146 DNAJB4 DnaJ heat shock protein family (Hsp40) member B4 ENCODES a protein that exhibits ATPase activator activity (inferred); protein-folding chaperone binding (inferred); unfolded protein binding (inferred); INVOLVED IN protein folding (inferred); ASSOCIATED WITH congenital myopathy 21 (ortholog); distal myopathy (ortholog); genetic disease (ortholog); FOUND IN cytosol (inferred); nucleoplasm (inferred); plasma membrane (inferred) 1 1 1 148030287 148072833 - 79280121 79318855 + 77198130 77237014 + 22301074;30032202 100979528 A0A2R9B7I7 MODEL JARIFH010000001;XM_003807781;XM_024927056 XP_003807829;XP_024782824 A0A2R9B7I7 dnaJ homolog subfamily B member 4 protein-coding ENSPPAG00000035241 1 79305605 79318199 + 11668157 HEPACAM2 HEPACAM family member 2 INVOLVED IN centrosome cycle (ortholog); ASSOCIATED WITH genetic disease (ortholog); pleomorphic xanthoastrocytoma (ortholog); prostate cancer (ortholog); FOUND IN centrosome (ortholog); Golgi apparatus (ortholog); intracellular membrane-bounded organelle (ortholog) 7 7 7 159297128 159341095 - 98739782 98777713 - 85145026 85183278 - 100980357 A0A2R9BIF2 MODEL JARIFH010000008;XM_003809728;XM_008961996;XM_055114715;XM_055114716 XP_003809776;XP_008960244;XP_054970690;XP_054970691 A0A2R9BIF2 protein-coding ENSPPAG00000037081 11668175 SKP1 S-phase kinase associated protein 1 ENCODES a protein that exhibits beta-catenin binding (inferred); cullin family protein binding (inferred); F-box domain binding (inferred); INVOLVED IN protein K48-linked ubiquitination (ortholog); protein monoubiquitination (ortholog); PARTICIPATES IN Notch signaling pathway; nuclear factor kappa B signaling pathway; nuclear factor, erythroid 2 like 2 signaling pathway; ASSOCIATED WITH familial adenomatous polyposis 1 (ortholog); genetic disease (ortholog); Hereditary Neoplastic Syndromes (ortholog); FOUND IN centrosome (ortholog); cytosol (ortholog); gap junction (ortholog) 5 5 5 127595401 127617859 - 135713085 135732665 - 129560086 129580188 - 30032202 100981953 A0A2R8ZDZ3 MODEL JARIFH010000006;XM_003829280 XP_003829328 A0A2R8ZDZ3 S-phase kinase-associated protein 1 protein-coding ENSPPAG00000013599 5 135713085 135729653 - 11668185 TNFAIP8 TNF alpha induced protein 8 ENCODES a protein that exhibits molecular sequestering activity (ortholog); small molecule binding (ortholog); INVOLVED IN defense response to Gram-positive bacterium (ortholog); ASSOCIATED WITH esophagus squamous cell carcinoma (ortholog); Experimental Liver Cirrhosis (ortholog); familial adenomatous polyposis 1 (ortholog); FOUND IN cytoplasm (inferred); nucleoplasm (inferred) 5 5 5 112698975 112826728 + 120442285 120569877 + 114657140 114784819 + 22301074;30032202 100982036 A0A2R9BYT6;A0A2R9BYU1;A0A2R9BZD1;A0A2R9BZE4;A0A2R9BZF1;A0A2R9C221 MODEL JARIFH010000006;XM_003826711;XM_008952057 XP_003826759;XP_008950305 A0A2R9C221 tumor necrosis factor alpha-induced protein 8 protein-coding ENSPPAG00000040250 5 120442500 120569877 + 11668199 SEMA4C semaphorin 4C ENCODES a protein that exhibits semaphorin receptor binding (inferred); INVOLVED IN cell differentiation (inferred); cell migration in hindbrain (inferred); cerebellum development (inferred); ASSOCIATED WITH COVID-19 (ortholog); genetic disease (ortholog); intellectual disability (ortholog); FOUND IN membrane (inferred); postsynaptic density (inferred); synaptic vesicle membrane (inferred) 2A 2A 2A 31438188 31451673 + 97779357 97788242 - 102443333 102455176 + 30032202 100982668 A0A2R8ZQ98;A0A2R9BAV2 MODEL JARIFH010000002;XM_024927708;XM_034953727;XM_034953728;XM_034953729;XM_034953730;XM_034953731;XM_034953732;XM_055107642 XP_024783476;XP_034809618;XP_034809619;XP_034809620;XP_034809621;XP_034809622;XP_034809623;XP_054963617 A0A2R8ZQ98;A0A2R9BAV2 LOC103786531 semaphorin-4C;uncharacterized LOC103786531;uncharacterized protein LOC103786531 PROVISIONAL protein-coding ENSPPAG00000024559;ENSPPAG00000036456 2A 97780242 97787341 - 11668218 ZNF584 zinc finger protein 584 ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN regulation of DNA-templated transcription (inferred); ASSOCIATED WITH genetic disease (ortholog) 19 19 19 66466137 66481429 + 64239939 64250345 + 55410484 55425792 + 22301074 100982746 A0A2R9A8X2;A0A2R9A9Y6;A0A2R9ADW6 MODEL JARIFH010000020;XM_003816657;XM_008969675;XM_008969677;XM_034944995;XM_034944996;XM_057300683;XM_057300684 XP_034800886;XP_057156666;XP_057156667 A0A2R9A9Y6 protein-coding ENSPPAG00000030019 19 64239966 64250345 + 11668232 DIPK1A divergent protein kinase domain 1A ASSOCIATED WITH aplastic anemia (ortholog); Diamond-Blackfan anemia (ortholog); Diamond-Blackfan anemia 1 (ortholog); FOUND IN membrane (inferred) 1 1 1 133209618 133334845 + 94241754 94275864 - 95507241 95631286 - 100982808 A0A2R9CLJ3;A0A2R9CLK4;A0A2R9CLK9;A0A2R9CNM2;A0A2R9CT55 MODEL JARIFH010000001;XM_034931241 XP_034787132 A0A2R9CNM2 FAM69A family with sequence similarity 69 member A APPROVED protein-coding ENSPPAG00000043970 1 94232632 94275864 - 11668240 LSR lipolysis stimulated lipoprotein receptor INVOLVED IN protein localization to tricellular tight junction (ortholog); regulation of lipid metabolic process (ortholog); ASSOCIATED WITH Animal Mammary Neoplasms (ortholog); Brugada syndrome 5 (ortholog); carcinoma (ortholog); FOUND IN anchoring junction (inferred); bicellular tight junction (inferred); cell junction (inferred) 19 19 19 43244926 43263857 + 40932180 40951448 + 32195036 32214300 + 30032202 100983637 A0A2R8ZUV9;A0A2R8ZUW2;A0A2R8ZW11;A0A2R8ZW22;A0A2R9A0I5 MODEL JARIFH010000020;XM_003816100;XM_003816101;XM_003816102;XM_008969204;XM_008969205;XM_034945741;XM_055102988 XP_003816148;XP_003816149;XP_003816150;XP_008967452;XP_008967453;XP_054958963 A0A2R8ZUV9 lipolysis-stimulated lipoprotein receptor protein-coding ENSPPAG00000027612 19 40932180 40951448 + 11668260 KHDRBS3 KH RNA binding domain containing, signal transduction associated 3 ENCODES a protein that exhibits single-stranded RNA binding (ortholog); INVOLVED IN mRNA processing (ortholog); positive regulation of RNA splicing (ortholog); regulation of alternative mRNA splicing, via spliceosome (ortholog); ASSOCIATED WITH genetic disease (ortholog); FOUND IN nucleoplasm (inferred); nucleus (inferred); protein-containing complex (inferred) 8 8 8 128381719 128580807 + 135084505 135282770 + 132131953 132331310 + 30032202 100984529 A0A2R9CNR0;A0A2R9CT81 MODEL JARIFH010000009;XM_003830072;XM_008955444;XM_034966638;XM_034966639;XM_055116974;XM_055116975;XM_055116976;XM_055116978 XP_003830120;XP_008953692;XP_034822530;XP_054972949;XP_054972950;XP_054972951;XP_054972953 A0A2R9CT81 KH domain-containing, RNA-binding, signal transduction-associated protein 3 protein-coding ENSPPAG00000043998 8 135084505 135282766 + 11668286 FAM234A family with sequence similarity 234 member A ASSOCIATED WITH epilepsy (ortholog); genetic disease (ortholog); idiopathic generalized epilepsy (ortholog); FOUND IN cell surface (inferred); membrane (inferred) 16 16 4242422 4275834 + 224719 259804 + 100984846 A0A2R9ANI3;A0A2R9AP41 MODEL JARIFH010000017;XM_008961610;XM_008961611;XM_008961612;XM_014341607;XM_024925797;XM_024925798;XM_024925799;XM_055099239 XP_054955214 A0A2R9ANI3 ITFG3 integrin alpha FG-GAP repeat containing 3 protein-coding ENSPPAG00000032611 16 238198 259698 + 11668325 FHIT fragile histidine triad diadenosine triphosphatase ENCODES a protein that exhibits adenosine 5'-monophosphoramidase activity (ortholog); adenylylsulfatase activity (ortholog); adenylylsulfate-ammonia adenylyltransferase activity (ortholog); INVOLVED IN diadenosine triphosphate catabolic process (ortholog); DNA replication (ortholog); intrinsic apoptotic signaling pathway by p53 class mediator (ortholog); ASSOCIATED WITH amenorrhea (ortholog); amphetamine abuse (ortholog); autistic disorder (ortholog); FOUND IN cytoplasm (ortholog); cytosol (ortholog); fibrillar center (ortholog) 3 3 3 59700388 61203773 - 61069947 62568700 - 59670777 61177974 - 30032202 100985630 MODEL JARIFH010000004;XM_034956785;XM_034956786;XM_034956787;XM_034956788;XM_034956789;XM_034956790;XM_034956791;XM_034956792;XM_034956793;XM_034956794;XM_055110087;XM_055110088 XP_034812676;XP_034812677;XP_034812678;XP_034812679;XP_034812680;XP_034812684;XP_054966062;XP_054966063 bis(5'-adenosyl)-triphosphatase;fragile histidine triad APPROVED protein-coding 11668344 LOC100985826 H/ACA ribonucleoprotein complex subunit 2-like 10 10 10 104258868 104259859 + 92481612 92482353 + 88962422 88963493 + 22301074;30032202 100985826 MODEL JARIFH010000011;XM_034931101 XP_034786992 H/ACA ribonucleoprotein complex subunit 2 pseudogene APPROVED protein-coding 11668347 ELP1 elongator acetyltransferase complex subunit 1 ENCODES a protein that exhibits ATP binding (ortholog); protein kinase activity (ortholog); INVOLVED IN I-kappaB phosphorylation (ortholog); ASSOCIATED WITH asthma (ortholog); Breast Neoplasms (ortholog); Charcot-Marie-Tooth disease (ortholog); FOUND IN elongator holoenzyme complex (ortholog) 9 9 9 30478226 30543043 + 108194008 108258500 - 80020131 80085076 - 22301074;30032202 100986506 A0A2R8ZU92 MODEL JARIFH010000010;XM_003810890;XM_034967934 XP_003810938;XP_034823825 A0A2R8ZU92 IKBKAP elongator complex protein 1 APPROVED protein-coding ENSPPAG00000027510 9 108194011 108258500 - 11668388 MTNR1A melatonin receptor 1A ENCODES a protein that exhibits G protein-coupled receptor activity (inferred); hormone binding (inferred); melatonin receptor activity (inferred); INVOLVED IN camera-type eye development (ortholog); circadian rhythm (ortholog); negative regulation of insulin secretion (ortholog); ASSOCIATED WITH amyotrophic lateral sclerosis (ortholog); autism spectrum disorder (ortholog); autistic disorder (ortholog); FOUND IN neuronal cell body (ortholog) 4 4 4 184611403 184641772 - 190897192 190921677 - 178693869 178720351 - 22301074;30032202 100987262 A0A2R8ZWV5 MODEL JARIFH010000005;XM_003823494 XP_003823542 A0A2R8ZWV5 melatonin receptor type 1A protein-coding ENSPPAG00000027969 4 190897192 190921677 - 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 ENCODES a protein that exhibits delayed rectifier potassium channel activity (ortholog); protein-containing complex binding (ortholog); transmembrane transporter binding (ortholog); INVOLVED IN cellular response to acidic pH (ortholog); cellular response to light stimulus (ortholog); epithelial cell maturation (ortholog); PARTICIPATES IN acebutolol pharmacodynamics pathway; adrenergic beta receptor agonist and beta-blocker pharmacodynamics pathway; amiodarone pharmacodynamics pathway; ASSOCIATED WITH amyotrophic lateral sclerosis type 1 (ortholog); arrhythmogenic right ventricular cardiomyopathy (ortholog); atrial fibrillation (ortholog); FOUND IN apical plasma membrane (ortholog); voltage-gated potassium channel complex (ortholog); Z disc (ortholog) 21 21 21 25424445 25492209 - 34187482 34252573 - 20818395 20884053 - 22301074;30032202 100987490 A0A2R8ZIR2 MODEL JARIFH010000022;XM_003823967;XM_003823968;XM_008977686;XM_034948146;XM_034948148 XP_003824015;XP_003824016;XP_034804037 A0A2R8ZIR2 potassium voltage-gated channel subfamily E member 1;potassium voltage-gated channel, Isk-related family, member 1 protein-coding ENSPPAG00000015609 21 34190043 34190441 - 11668412 RCC1 regulator of chromosome condensation 1 ENCODES a protein that exhibits chromatin binding (inferred); guanyl-nucleotide exchange factor activity (inferred); histone binding (inferred); INVOLVED IN chromosome segregation (inferred); G1/S transition of mitotic cell cycle (inferred); mitotic spindle organization (inferred); ASSOCIATED WITH genetic disease (ortholog); FOUND IN chromatin (inferred); condensed nuclear chromosome (inferred); cytoplasm (inferred) 1 1 1 197426225 197448484 - 28819422 28841266 + 27784488 27806728 + 30032202 100988097 A0A2R9AE32;A0A2R9AKL9 MODEL JARIFH010000001;XM_003828093;XM_003828095;XM_008953413;XM_014344214;XM_014344216;XM_055096042;XM_055096043;XM_055096046;XM_055096048;XM_055096052;XM_055096059;XM_055096065 XP_003828141;XP_003828143;XP_008951661;XP_014199702;XP_054952017;XP_054952018;XP_054952021;XP_054952023;XP_054952027;XP_054952034;XP_054952040 A0A2R9AKL9 regulator of chromosome condensation protein-coding ENSPPAG00000030910 1 28820815 28841773 + 11668442 LOC100989148 double homeobox protein 4-like protein 4 15 19724302 19726262 - 100989148 MODEL JARIFH010000016 pseudo 11668443 CLDN16 claudin 16 ENCODES a protein that exhibits structural molecule activity (inferred); INVOLVED IN positive regulation of calcium ion transport (ortholog); transepithelial transport (ortholog); ASSOCIATED WITH genetic disease (ortholog); Hypercalciuria (ortholog); hypertension (ortholog); FOUND IN bicellular tight junction (ortholog) 3 3 3 188261748 188287522 + 195964400 195990065 + 187141710 187436909 + 22301074;30032202 100990092 A0A2R9AJ88;A0A2R9AN64 MODEL JARIFH010000004;XM_003824967;XM_034957889;XM_034957890;XM_034957892 XP_034813783 A0A2R9AN64 claudin-16 protein-coding ENSPPAG00000031653 3 195964178 195990065 + 11668456 GIMD1 GIMAP family P-loop NTPase domain containing 1 ENCODES a protein that exhibits GTP binding (inferred); nucleotide binding (inferred); ASSOCIATED WITH genetic disease (ortholog) 4 4 4 104750996 104764528 - 109445476 109456055 - 98838222 98849590 - 22301074 100992165 A0A2R9B099 MODEL JARIFH010000005;XM_003829988;XM_055111692;XM_055111693 XP_003830036;XP_054967667;XP_054967668 A0A2R9B099 GTPase IMAP family member GIMD1 protein-coding ENSPPAG00000034688 4 109445476 109456055 - 11668465 LOC100992524 ras-related protein Rab-42-like 14 14 14 90252892 90253550 + 89862413 89863071 + 70509754 70511733 + 100992524 MODEL JARIFH010000015;XR_004666271 ras-related protein Rab-39A pseudogene APPROVED pseudo 11668466 KRT26 keratin 26 ENCODES a protein that exhibits structural molecule activity (inferred); ASSOCIATED WITH genetic disease (ortholog); FOUND IN intermediate filament (inferred) 17 17 17 26067258 26076789 + 16737108 16743025 + 16512055 16517973 + 22301074;30032202 100993578 A0A2R9CJF2 MODEL JARIFH010000018;XM_003831412;XM_034943360 XP_003831460;XP_034799251 A0A2R9CJF2 keratin, type I cytoskeletal 26 protein-coding ENSPPAG00000043196 17 16737108 16743025 + 11668478 ATP5MK ATP synthase membrane subunit k ASSOCIATED WITH mitochondrial complex V (ATP synthase) deficiency nuclear type 6 (ortholog); FOUND IN membrane (inferred); mitochondrial membrane (inferred); mitochondrial proton-transporting ATP synthase complex (inferred) 10 10 10 115278840 115286340 - 103447873 103455541 - 99986940 99994447 - 22301074;30032202 100993870 A0A2R9AGT8 MODEL JARIFH010000011;XM_003825540 XP_003825588 A0A2R9AGT8 ATP5MD;USMG5 ATP synthase membrane subunit DAPIT;ATP synthase membrane subunit DAPIT, mitochondrial;ATP synthase membrane subunit K, mitochondrial;up-regulated during skeletal muscle growth 5 homolog;up-regulated during skeletal muscle growth 5 homolog (mouse);up-regulated during skeletal muscle growth protein 5 APPROVED protein-coding ENSPPAG00000031402 10 103447873 103455044 - 11668492 NTRK3 neurotrophic receptor tyrosine kinase 3 ENCODES a protein that exhibits GPI-linked ephrin receptor activity (ortholog); INVOLVED IN axon extension involved in regeneration (ortholog); cellular response to retinoic acid (ortholog); circadian rhythm (ortholog); ASSOCIATED WITH acute myeloid leukemia (ortholog); adenoid cystic carcinoma (ortholog); Animal Mammary Neoplasms (ortholog); FOUND IN cytoplasm (ortholog); glutamatergic synapse (ortholog); postsynaptic membrane (ortholog) 15 15 15 81101703 81513473 - 85776819 86157209 - 66566219 66953279 - 22301074;30032202 100994282 A0A2R9CD40;A0A2R9CFI2;A0A2R9CFJ3;A0A2R9CFJ9;A0A2R9CFL1 MODEL JARIFH010000016;XM_003820401;XM_003820402;XM_008973853;XM_008973854;XM_024925737;XM_034939368;XM_034939369;XM_034939371;XM_034939372;XM_034939373;XM_034939374 XP_003820449;XP_003820450;XP_008972101;XP_008972102;XP_024781505;XP_034795259;XP_034795260;XP_034795262;XP_034795263;XP_034795264;XP_034795265 A0A2R9CFJ3 NT-3 growth factor receptor protein-coding ENSPPAG00000042420 15 85776832 86157204 - 11668524 LOC100994340 DEP domain-containing protein 1A-like 9 9 9 33637756 33640460 - 105112903 105115495 + 76920677 76923381 + 100994340 MODEL JARIFH010000010 pseudo 11668525 FBXO33 F-box protein 33 INVOLVED IN SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (inferred); ASSOCIATED WITH Brain-Lung-Thyroid Syndrome (ortholog); genetic disease (ortholog); FOUND IN SCF ubiquitin ligase complex (inferred) 14 14 14 39950273 39984993 - 38524595 38558579 - 20170332 20205181 - 22301074;30032202 100995625 A0A2R9A9Y1;A0A2R9ADV7 MODEL JARIFH010000015;XM_014347579 XP_014203065 A0A2R9A9Y1 F-box only protein 33 protein-coding ENSPPAG00000030020 14 38526437 38558626 - 11668557 LOC103786018 uncharacterized LOC103786018 17 17 17 32175962 32189271 - 22915720 22921452 - 22614624 22628551 - 103786018 MODEL JARIFH010000018;XR_004667199;XR_004667200;XR_008621589;XR_611714 ncrna 11668577 UBE2C ubiquitin conjugating enzyme E2 C ENCODES a protein that exhibits ubiquitin-protein transferase activity (ortholog); INVOLVED IN anaphase-promoting complex-dependent catabolic process (inferred); exit from mitosis (inferred); free ubiquitin chain polymerization (inferred); ASSOCIATED WITH Breast Neoplasms (ortholog); Chromosome Aberrations (ortholog); COVID-19 (ortholog); FOUND IN anaphase-promoting complex (inferred); cytosol (inferred); plasma membrane (inferred) 20 20 20 51547853 51551892 + 43239382 43243464 + 42152219 42156246 + 100967728 A0A2R9AE91;A0A2R9AF99;A0A2R9AJ19;A0A2R9AJ51;A0A2R9AKT8;A0A2R9AKU3 MODEL JARIFH010000021;XM_003825980 XP_003826028 A0A2R9AJ19 ubiquitin-conjugating enzyme E2 C protein-coding ENSPPAG00000030928 20 43239382 43243464 + 11668587 CDC34 cell division cycle 34, ubiqiutin conjugating enzyme ENCODES a protein that exhibits ATP binding (inferred); nucleotide binding (inferred); transferase activity (inferred); INVOLVED IN positive regulation of inclusion body assembly (ortholog); positive regulation of neuron apoptotic process (ortholog); response to growth factor (ortholog); ASSOCIATED WITH genetic disease (ortholog); FOUND IN cytosol (inferred); nuclear speck (inferred) 19 19 19 4098001 4108029 + 480279 512173 + 592856 602811 - 30032202 100971027 A0A2R9CK84;A0A2R9CK87;A0A2R9CSK6 MODEL JARIFH010000020;XM_034944206;XM_034944207;XM_034944208 XP_034800098;XP_034800099 A0A2R9CK84 LOC100971027 cell division cycle 34;cell division cycle 34 homolog;ubiquitin-conjugating enzyme E2 R1 APPROVED protein-coding ENSPPAG00000043759 19 502766 512173 + 11668596 TYMS thymidylate synthetase ENCODES a protein that exhibits folic acid binding (ortholog); heterocyclic compound binding (ortholog); mRNA binding (ortholog); INVOLVED IN cartilage development (ortholog); circadian rhythm (ortholog); developmental growth (ortholog); PARTICIPATES IN beta-ureidopropionase deficiency pathway; capecitabine pharmacodynamics pathway; capecitabine pharmacokinetics pathway; ASSOCIATED WITH abdominal aortic aneurysm (ortholog); acute lymphoblastic leukemia (ortholog); acute myeloid leukemia (ortholog); FOUND IN nucleus (ortholog) 18 18 18 23522096 23537682 - 17295182 17310311 - 13653085 13668478 - 21318388;22301074;30032202 100973751 A0A2R9BCJ8;A0A2R9BCN0;A0A2R9BL39 MODEL AY532282;FJ821291;JARIFH010000019;XM_003815632 ACO06793;XP_003815680 A0A2R9BCN0 thymidylate synthase protein-coding ENSPPAG00000036745 18 17295182 17310320 - 11668607 LYPD4 LY6/PLAUR domain containing 4 ASSOCIATED WITH Carpenter Syndrome 2 (ortholog); congenital hypoplastic anemia (ortholog); craniosynostosis (ortholog) 19 19 19 49809662 49819699 - 47231778 47239631 - 38725837 38733460 - 30032202 100974852 A0A2R8ZAA8;A0A2R8ZAQ4 MODEL JARIFH010000020;XM_003812444;XM_008964838;XM_055103710;XM_055103711;XM_055103712;XM_055103713;XM_055103714;XM_055103715 XP_003812492;XP_008963086;XP_054959685;XP_054959686;XP_054959687;XP_054959688;XP_054959689;XP_054959690 A0A2R8ZAQ4 ly6/PLAUR domain-containing protein 4 protein-coding ENSPPAG00000008791 19 47231778 47239581 - 11668620 LOC100977487 diphosphoinositol polyphosphate phosphohydrolase 3-beta ENCODES a protein that exhibits diphosphoinositol-polyphosphate diphosphatase activity (ortholog); ASSOCIATED WITH autistic disorder (ortholog); genetic disease (ortholog); Stocco Dos Santos type X-linked intellectual disability (ortholog); FOUND IN cytosol (ortholog) X X X 52884347 52891213 - 51376769 51382944 - 43666957 43673542 - 30032202 100977487 A0A2R8ZK39;A0A2R9BB56 MODEL JARIFH010000024;XM_034950290;XM_055106667 XP_034806181;XP_054962642 A0A2R9BB56 NUDT11 nudix hydrolase 11;uncharacterized LOC100977487 APPROVED protein-coding ENSPPAG00000035362 11668624 LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ENCODES a protein that exhibits O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (ortholog); INVOLVED IN compartment pattern specification (ortholog); marginal zone B cell differentiation (ortholog); negative regulation of Notch signaling pathway involved in somitogenesis (ortholog); PARTICIPATES IN Notch signaling pathway; ASSOCIATED WITH genetic disease (ortholog); Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal (ortholog); spondylocostal dysostosis 2 (ortholog); FOUND IN membrane (inferred) 7 7 7 55802701 55812142 + 2876721 2884926 + 2781493 2790936 + 22301074;30032202 100977920 A0A2R8Z9Y9;A0A2R8ZAG0;A0A2R8ZE15 MODEL JARIFH010000008;XM_008973188;XM_034963535 XP_008971436;XP_034819426 A0A2R8ZE15 beta-1,3-N-acetylglucosaminyltransferase lunatic fringe protein-coding ENSPPAG00000008106 11668635 ADAD2 adenosine deaminase domain containing 2 ENCODES a protein that exhibits adenosine deaminase activity (inferred); RNA binding (inferred); INVOLVED IN RNA processing (inferred); spermatid development (inferred); ASSOCIATED WITH genetic disease (ortholog); persistent fetal circulation syndrome (ortholog); spermatogenic failure 3 (ortholog); FOUND IN cytoplasm (inferred); nucleus (inferred) 16 16 16 99854254 99861291 + 84198190 84204243 + 64856014 64862493 + 22301074;30032202 100978047 A0A2R9A259;A0A2R9A7G5 MODEL JARIFH010000017;XM_003820867;XM_003820868;XM_008974345;XM_008974346;XM_008974347;XM_008974348;XM_034940833;XM_055100519;XM_055100520;XM_055100521;XM_055100522 XP_003820915;XP_003820916;XP_008972593;XP_008972594;XP_008972595;XP_054956494;XP_054956495;XP_054956496;XP_054956497 A0A2R9A7G5 adenosine deaminase domain-containing protein 2 protein-coding ENSPPAG00000028878 16 84198190 84204243 + 11668660 ATP6V1E2 ATPase H+ transporting V1 subunit E2 ENCODES a protein that exhibits proton-transporting ATPase activity, rotational mechanism (inferred); INVOLVED IN proton transmembrane transport (ortholog); ASSOCIATED WITH genetic disease (ortholog); Lynch syndrome (ortholog); FOUND IN acrosomal vesicle (inferred); proton-transporting two-sector ATPase complex, catalytic domain (inferred) 2A 2A 2A 79851830 79882206 + 47558819 47589194 - 46627574 46658180 - 22301074;30032202 100978055 A0A2R9ARI0 MODEL JARIFH010000002;XM_008976241;XM_008976242;XM_034953062;XM_034953063;XM_034953064;XM_034953065;XM_034953066;XM_055108013;XM_055108014;XM_057301316;XM_057301317 XP_008974489;XP_034808953;XP_034808954;XP_034808955;XP_054963988;XP_054963989;XP_057157299;XP_057157300 A0A2R9ARI0 V-type proton ATPase subunit E 2 protein-coding ENSPPAG00000033113 2A 47559015 47559695 - 11668680 GRM3 glutamate metabotropic receptor 3 ENCODES a protein that exhibits group II metabotropic glutamate receptor activity (ortholog); scaffold protein binding (ortholog); INVOLVED IN gene expression (ortholog); modulation of chemical synaptic transmission (ortholog); ASSOCIATED WITH epilepsy (ortholog); genetic disease (ortholog); melanoma (ortholog); FOUND IN astrocyte projection (ortholog); glutamatergic synapse (ortholog); postsynaptic membrane (ortholog) 7 7 7 152778494 152998628 + 92279079 92500553 + 78621634 78842532 + 22301074;30032202 100979630 A0A2R9BF08;A0A2R9BF13;A0A2R9BG51;A0A2R9BNL3 MODEL JARIFH010000008;XM_003822736;XM_034964355;XM_034964356 XP_003822784;XP_034820246;XP_034820247 A0A2R9BG51 metabotropic glutamate receptor 3 protein-coding ENSPPAG00000037163 7 92400728 92500553 + 11668690 LOC100981368 angiotensin-converting enzyme-like protein Ace3 17 17 17 84495900 84510900 + 62733047 62745917 + 57586508 57599543 + 22301074;30032202 100981368 MODEL JARIFH010000018;XM_008963794;XM_055102203 XP_054958178 angiotensin-converting enzyme-like APPROVED protein-coding 11668706 ZC3H6 zinc finger CCCH-type containing 6 ENCODES a protein that exhibits metal ion binding (inferred); RNA binding (inferred); INVOLVED IN negative regulation of DNA-templated transcription (inferred); ASSOCIATED WITH genetic disease (ortholog) 2A 2A 2A 15733587 15801524 - 113426672 113467613 + 89670224 89730253 - 22301074;30032202 100982119 A0A2R9ABP8 MODEL JARIFH010000002;XM_034953548;XM_034953549;XM_055107413;XM_055107414 XP_054963388;XP_054963389 A0A2R9ABP8 zinc finger CCCH domain-containing protein 6 protein-coding ENSPPAG00000030495 2A 113431920 113464603 + 11668722 ZIK1 zinc finger protein interacting with K protein 1 ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN regulation of DNA-templated transcription (inferred); ASSOCIATED WITH genetic disease (ortholog) 19 19 19 65647775 65662174 + 63424943 63435202 + 54593169 54605771 + 30032202 100982204 A0A2R9BA28 MODEL JARIFH010000020;XM_003816655;XM_003816656;XM_008969744;XM_008969745;XM_008969747;XM_008969749;XM_008969750;XM_024926784 XP_003816703;XP_003816704;XP_008967992;XP_008967993;XP_008967997;XP_008967998 A0A2R9BA28 zinc finger protein interacting with K protein 1 homolog;zinc finger protein interacting with ribonucleoprotein K protein-coding ENSPPAG00000035705 19 63426256 63432584 + 11668749 NUDT6 nudix hydrolase 6 ENCODES a protein that exhibits hydrolase activity (inferred); INVOLVED IN negative regulation of cell cycle (inferred); negative regulation of cell population proliferation (inferred); ASSOCIATED WITH genetic disease (ortholog); neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities (ortholog); Neurodevelopmental Disorders (ortholog); FOUND IN cytoplasm (inferred); mitochondrion (inferred); nucleus (inferred) 4 4 4 120935554 120965604 - 126215190 126245586 - 115070782 115100841 - 30032202 100983196 A0A2R9C965 MODEL JARIFH010000005;XM_003816401;XM_008969468;XM_008969469 XP_003816449;XP_008967716;XP_008967717 A0A2R9C965 nucleoside diphosphate-linked moiety X motif 6 protein-coding ENSPPAG00000041950 4 126215197 126245060 - 11668767 OAZ3 ornithine decarboxylase antizyme 3 The protein encoded by this gene belongs to the ornithine decarboxylase antizyme family, which plays a role in cell growth and proliferation by regulating intracellular polyamine levels. Expression of antizymes requires +1 ribosomal frameshifting, which is enhanced by high levels of polyamine in cells. Antizymes in turn bind to and inhibit ornithine decarboxylase (ODC), the key enzyme in polyamine biosynthesis pathway; thus, completing the auto-regulatory circuit. This gene encodes antizyme 3, the third member of the antizyme family. Like antizymes 1 and 2, antizyme 3 inhibits ODC activity and polyamine uptake, however, it does not stimulate ODC degradation. Also, while antizymes 1 and 2 have broad tissue distribution, expression of antizyme 3 is restricted to haploid germ cells in testis, suggesting a distinct role for this antizyme in spermiogenesis. Antizyme 3 gene knockout studies in mice showed that homozygous mutant male mice were infertile, and indicated the likely role of this antizyme in the formation of a rigid connection between the sperm head and tail during spermatogenesis. Alternatively spliced transcript variants encoding different isoforms, including one resulting from the use of non-AUG (CUG) translation initiation codon, have been noted for this gene. [provided by RefSeq, Aug 2014] 1 1 1 97803599 97812162 - 130765003 130773974 + 127121375 127129940 + 10781034;17332016;22301074;30032202 100985778 A0A2R8ZDR1;A0A2R8ZKB8;A0A2R8ZKD5;A0A2R8ZKD9 REVIEWED JARIFH010000001;NM_001290340;NM_001301415 NP_001277269;NP_001288344 A0A2R8ZKD5 protein-coding ENSPPAG00000013394 1 130765290 130773859 + 11668779 YTHDF3 YTH N6-methyladenosine RNA binding protein F3 ENCODES a protein that exhibits N6-methyladenosine-containing RNA reader activity (inferred); ribosome binding (inferred); RNA binding (inferred); INVOLVED IN positive regulation of translational initiation (ortholog); FOUND IN cytoplasm (inferred); cytoplasmic stress granule (inferred); P-body (inferred) 8 8 8 54533668 54575480 + 61375585 61416992 + 59701341 59742865 + 30032202 100985993 A0A2R9CIJ7;A0A2R9CIK1;A0A2R9CRU9 MODEL JARIFH010000009;XM_014345961;XM_034966152;XM_034966153;XM_034966154 XP_014201447;XP_034822043;XP_034822044;XP_034822045 A0A2R9CIK1 YTH N6-methyladenosine RNA binding protein 3;YTH domain family, member 3;YTH domain-containing family protein 3 APPROVED protein-coding ENSPPAG00000043483 8 61375832 61413911 + 11668788 ZNF841 zinc finger protein 841 ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN regulation of DNA-templated transcription (inferred); ASSOCIATED WITH genetic disease (ortholog) 19 19 19 60030864 60062464 - 57886770 57917515 - 49007787 49038770 - 30032202 100986087 A0A2R9AGT5;A0A2R9BXY4;A0A2R9C1A0;A0A2R9C7N2 MODEL JARIFH010000020;XM_008966239;XM_034945414;XM_034945415;XM_034945416;XM_034945417;XM_034945418;XM_034945419;XM_034945420;XM_034945422;XM_034945423;XM_055103807;XM_055103808 XP_034801308;XP_034801310;XP_034801311;XP_034801314;XP_054959782;XP_054959783 A0A2R9AGT5;A0A2R9C1A0 LOC100986087;ZNF616 zinc finger protein 616 APPROVED protein-coding ENSPPAG00000030538;ENSPPAG00000040118 19;19 57937313;57886770 57946400;57917499 -;- 11668806 NUP133 nucleoporin 133 ENCODES a protein that exhibits structural constituent of nuclear pore (inferred); INVOLVED IN neural tube development (ortholog); neurogenesis (ortholog); paraxial mesoderm development (ortholog); PARTICIPATES IN mRNA nuclear export pathway; ASSOCIATED WITH Actin-Accumulation Myopathy (ortholog); epilepsy (ortholog); Galloway-Mowat Syndrome 8 (ortholog); FOUND IN kinetochore (ortholog) 1 1 1 19895406 19964182 + 210017649 210084746 - 204985690 205053072 - 22301074;30032202 100986934 A0A2R9B384;A0A2R9B397 MODEL JARIFH010000001;XM_003824458;XM_055103820;XR_008622122 XP_003824506;XP_054959795 A0A2R9B384 nuclear pore complex protein Nup133 protein-coding ENSPPAG00000035148 1 210017649 210084746 - 11668836 LOC100987035 N-alpha-acetyltransferase 40-like 6 6 6 14819689 14820378 + 4210526 4211173 + 4022193 4022842 + 100987035 MODEL JARIFH010000007 N-alpha-acetyltransferase 40 pseudogene APPROVED pseudo 11668837 CHRDL1 chordin like 1 ENCODES a protein that exhibits BMP binding (inferred); transforming growth factor beta binding (inferred); INVOLVED IN cell fate determination (ortholog); negative regulation of BMP signaling pathway (ortholog); neuron differentiation (ortholog); PARTICIPATES IN Bone morphogenetic proteins signaling pathway; ASSOCIATED WITH autistic disorder (ortholog); developmental and epileptic encephalopathy 36 (ortholog); genetic disease (ortholog); FOUND IN extracellular region (ortholog) X X X 110168200 110292343 - 110251525 110375068 - 99781730 99915778 - 22301074 100987587 A0A2R9ASM0;A0A2R9ASZ3;A0A2R9AT13;A0A2R9AT17 MODEL JARIFH010000024;XM_003822029;XM_008975540;XM_008975541;XM_008975543;XM_034949740;XM_034949742;XM_034949743;XM_034949744;XM_057301084;XM_057301085 XP_003822077;XP_008973788;XP_008973789;XP_008973791;XP_034805631;XP_034805635;XP_057157067;XP_057157068 A0A2R9ASZ3 chordin-like protein 1 protein-coding ENSPPAG00000033340 X 110251525 110375289 - 11668860 RPE ribulose-5-phosphate-3-epimerase ENCODES a protein that exhibits carbohydrate binding (ortholog); D-ribulose-phosphate 3-epimerase activity (ortholog); identical protein binding (ortholog); INVOLVED IN pentose-phosphate shunt (ortholog); pentose-phosphate shunt, non-oxidative branch (ortholog); PARTICIPATES IN pentose phosphate pathway; pentose phosphate pathway - non-oxidative phase; ribose 5-phosphate isomerase deficiency pathway; ASSOCIATED WITH genetic disease (ortholog); Neurodevelopmental Disorders (ortholog); primary pulmonary hypertension (ortholog); FOUND IN cytosol (ortholog) 2B 2B 2B 112640872 112661872 + 215663592 215685654 + 97260348 97282397 + 22301074;30032202 100987818 A0A2R9AZS4;A0A2R9AZT2;A0A2R9AZT5;A0A2R9AZZ5;A0A2R9B0Z6;A0A2R9B677 MODEL JARIFH010000003;XM_003806973;XM_008958998;XM_008958999;XM_014344057;XM_024927887;XM_034955058;XM_034955059;XM_034955060;XM_034955061;XM_034955062;XM_034955063;XM_055109064;XM_055109065;XM_055109066;XM_055109067;XM_055109068;XM_055109069;XM_055109070;XM_057301504 XP_003807021;XP_008957247;XP_024783655;XP_034810949;XP_034810951;XP_034810952;XP_034810953;XP_054965039;XP_054965040;XP_054965041;XP_054965042;XP_054965043;XP_054965044;XP_054965045;XP_057157487 A0A2R9B677 ribulose-phosphate 3-epimerase protein-coding ENSPPAG00000034521 11668887 LOC100988077 dnaJ homolog subfamily C member 7-like 1 1 1 162638601 162645773 + 64426106 64432185 - 62614973 62616072 - 100988077 MODEL JARIFH010000001 dnaJ homolog subfamily C member 7 pseudogene APPROVED pseudo 11668888 AP3B1 adaptor related protein complex 3 subunit beta 1 ENCODES a protein that exhibits GTP-dependent protein binding (inferred); protein phosphatase binding (inferred); INVOLVED IN antigen processing and presentation (ortholog); antigen processing and presentation, exogenous lipid antigen via MHC class Ib (ortholog); blood coagulation (ortholog); ASSOCIATED WITH Chediak-Higashi syndrome (ortholog); cyclic hematopoiesis (ortholog); genetic disease (ortholog); FOUND IN AP-3 adaptor complex (inferred); axon cytoplasm (inferred); clathrin adaptor complex (inferred) 5 5 5 35163000 35453444 + 37502986 37835904 + 37015518 37305769 + 22301074;30032202 100988609 A0A2R9BRA6;A0A2R9BRB1;A0A2R9BRC1;A0A2R9BS12 MODEL JARIFH010000006;XM_008966887;XM_024928836;XM_034959913;XM_034959914 XP_008965135;XP_024784604 A0A2R9BRA6 LOC100968088;LOC100988609 AP-3 complex subunit beta-1;AP-3 complex subunit beta-1-like;adaptor-related protein complex 3, beta 1 subunit PROVISIONAL protein-coding ENSPPAG00000038854 5 37503162 37840205 + 11668918 PANK4 pantothenate kinase 4 (inactive) ENCODES a protein that exhibits pantothenate kinase activity (ortholog); INVOLVED IN coenzyme A biosynthetic process (inferred); ASSOCIATED WITH cataract (ortholog); Cataract 49 (ortholog); chromosome 1p36 deletion syndrome (ortholog); FOUND IN cytoplasm (inferred) 1 1 1 224381893 224402477 + 2378116 2391642 - 1238821 1259139 - 22301074;30032202 100989059 A0A2R8ZLN6;A0A2R8ZPD3 MODEL JARIFH010000001;XM_034953565 XP_034809456 A0A2R8ZLN6 4'-phosphopantetheine phosphatase;pantothenate kinase 4 APPROVED protein-coding ENSPPAG00000023688 1 2378116 2395738 - 11668940 TM6SF1 transmembrane 6 superfamily member 1 ASSOCIATED WITH amenorrhea (ortholog); Bloom syndrome (ortholog); colorectal cancer (ortholog); FOUND IN lysosomal membrane (ortholog) 15 15 15 76914941 76945981 - 80995993 81025933 + 62467207 62498060 - 30032202 100989455 A0A2R9C1W9;A0A2R9C2G9;A0A2R9C4W8 MODEL JARIFH010000016;XM_003815291;XM_008968229;XM_024925679;XM_034939297;XM_034939298;XM_034939299;XM_034939301;XM_055098877;XM_055098878;XM_055098879 XP_003815339;XP_008966477;XP_034795188;XP_034795192;XP_054954852;XP_054954853;XP_054954854 A0A2R9C4W8 protein-coding ENSPPAG00000040733 15 80995993 81025503 + 11668957 YJEFN3 YjeF N-terminal domain containing 3 ASSOCIATED WITH genetic disease (ortholog); urinary bladder cancer (ortholog) 19 19 19 23384523 23406420 + 19964456 19973200 + 18966788 18976052 + 30032202 100989704 A0A2R8ZNM1;A0A2R8ZNN0;A0A2R8ZPW7 MODEL JARIFH010000020;XM_008970977;XM_008970979;XM_034944117;XM_055104080 XP_008969225;XP_008969227;XP_054960055 A0A2R8ZNM1 yjeF N-terminal domain-containing protein 3 protein-coding ENSPPAG00000025286 19 19964456 19973200 + 11668978 LOC100989848 nuclear receptor-binding factor 2-like 8 8 8 100866976 100868661 + 106769319 106770235 + 104619989 104621674 + 100989848 MODEL JARIFH010000009;XM_008975222 pseudo 11668982 GGACT gamma-glutamylamine cyclotransferase ENCODES a protein that exhibits gamma-glutamylaminecyclotransferase activity (inferred); lyase activity (inferred); INVOLVED IN cellular modified amino acid catabolic process (inferred); ASSOCIATED WITH Anal Atresia, Hypospadias, and Penoscrotal Inversion (ortholog); genetic disease (ortholog); holoprosencephaly (ortholog) 13 13 13 100689407 100781473 - 100837605 100895588 - 81678715 81757024 - 30032202 100990143 A0A2R9AWP5 MODEL JARIFH010000014;XM_003832054;XM_003832055;XM_008957430;XM_008957431;XM_055096973;XR_004665995;XR_008620691;XR_008620692;XR_008620693 XP_003832102;XP_008955678;XP_054952948 A0A2R9AWP5 A2LD1 AIG2-like domain 1;gamma-glutamylaminecyclotransferase protein-coding ENSPPAG00000032899 13 100839483 100839944 - 11669000 CPNE3 copine 3 ENCODES a protein that exhibits calcium-dependent phospholipid binding (inferred); calcium-dependent protein binding (inferred); protein serine/threonine kinase activity (inferred); INVOLVED IN cellular response to calcium ion (inferred); cellular response to growth factor stimulus (inferred); ERBB2 signaling pathway (inferred); ASSOCIATED WITH genetic disease (ortholog); Prostatic Neoplasms (ortholog); FOUND IN cell junction (inferred); cytoplasm (inferred); cytosol (inferred) 8 8 8 79455749 79502801 + 85179146 85225585 + 83209949 83257088 + 30032202 100990169 A0A2R9A005 MODEL JARIFH010000009;XM_003821154;XM_034966311;XM_034966312;XM_055116707 XP_003821202;XP_034822203;XP_054972682 A0A2R9A005 copine-3 protein-coding ENSPPAG00000028318 8 85151133 85225585 + 11669021 LONRF1 LON peptidase N-terminal domain and ring finger 1 ASSOCIATED WITH genetic disease (ortholog) 8 8 8 6866784 6900412 - 8674290 8695676 - 11919627 11953249 - 22301074 100991102 MODEL JARIFH010000009;XM_034965666;XM_034965667 XP_034821557;XP_034821558 LON peptidase N-terminal domain and RING finger protein 1 protein-coding 11669036 LOC100991622 40S ribosomal protein S7-like ENCODES a protein that exhibits structural constituent of ribosome (inferred); INVOLVED IN translation (inferred); FOUND IN centrosome (inferred); ribonucleoprotein complex (inferred); ribosome (inferred) 13 13 13 12342683 12346953 - 21230667 21231319 - 2925019 2925663 - 22301074;30032202 100991622 A0A2R9ATK4;A0A2R9BV50 MODEL JARIFH010000014;XM_034936444;XM_055097164 XP_054953139 A0A2R9ATK4;A0A2R9BV50 40S ribosomal protein S7 pseudogene APPROVED protein-coding ENSPPAG00000032731;ENSPPAG00000039639 11669039 KCNK2 potassium two pore domain channel subfamily K member 2 ENCODES a protein that exhibits outward rectifier potassium channel activity (ortholog); potassium channel inhibitor activity (ortholog); potassium ion leak channel activity (ortholog); INVOLVED IN cardiac ventricle development (ortholog); cellular response to hypoxia (ortholog); cochlea development (ortholog); ASSOCIATED WITH brain ischemia (ortholog); congestive heart failure (ortholog); depressive disorder (ortholog); FOUND IN apical plasma membrane (ortholog); astrocyte projection (ortholog); axon (ortholog) 1 1 1 34124656 34280444 - 195431036 195660681 + 190576180 190807367 + 22301074;30032202 100991720 A0A2R9ACZ4;A0A2R9AHX9;A0A2R9AJA6 MODEL JARIFH010000001;XM_003814152;XM_003814153;XM_003814154;XM_034946893;XM_034946894 XP_003814200;XP_003814201;XP_034802785 A0A2R9ACZ4 potassium channel subfamily K member 2;potassium channel, subfamily K, member 2 protein-coding ENSPPAG00000030707 1 195430994 195662840 + 11669056 PUSL1 pseudouridine synthase like 1 ENCODES a protein that exhibits isomerase activity (inferred); pseudouridine synthase activity (inferred); RNA binding (inferred); INVOLVED IN pseudouridine synthesis (inferred); RNA modification (inferred); tRNA processing (inferred); ASSOCIATED WITH chromosome 1p36 deletion syndrome (ortholog); congenital myasthenic syndrome 8 (ortholog); dilated cardiomyopathy 1LL (ortholog); FOUND IN intracellular membrane-bounded organelle (inferred); mitochondrion (inferred) 1 1 1 225612211 225615302 - 1263656 1266661 + 63263 66360 + 22301074;30032202 100992714 A0A2R9A5N5 MODEL JARIFH010000001;XM_003809492 XP_003809540 A0A2R9A5N5 pseudouridylate synthase like 1;pseudouridylate synthase-like 1;tRNA pseudouridine synthase-like 1 APPROVED protein-coding ENSPPAG00000029283 1 1263656 1266661 + 11669068 RCSD1 RCSD domain containing 1 ENCODES a protein that exhibits actin filament binding (inferred); INVOLVED IN skeletal muscle contraction (ortholog); ASSOCIATED WITH Experimental Liver Cirrhosis (ortholog); gastrointestinal stromal tumor (ortholog); genetic disease (ortholog) 1 1 1 81726228 81802214 - 146895246 146921977 + 143062602 143138987 + 30032202 100993293 A0A2R9B6Z2;A0A2R9BAP8;A0A2R9BAQ6 MODEL JARIFH010000001;XM_034939711;XM_034939718;XM_034939725;XM_034939735;XM_055112038;XM_057302206 XP_034795602;XP_034795616;XP_054968013;XP_057158189 A0A2R9BAP8 protein-coding ENSPPAG00000035815 1 146899485 146921977 + 11669080 C9H9orf85 chromosome 9 C9orf85 homolog ASSOCIATED WITH genetic disease (ortholog) 9 9 9 71107663 71180039 + 70654637 70726035 + 52829338 52900688 - 100993392 A0A2R9BX11;A0A2R9C0E2;A0A2R9C0E8 MODEL JARIFH010000010;XM_003806370;XM_034967566;XM_034967567;XM_055091897;XM_055091899;XR_004673331;XR_004673332;XR_008619703;XR_008619704;XR_608686;XR_608688 XP_003806418;XP_054947872;XP_054947874 A0A2R9BX11 chromosome 9 open reading frame, human C9orf85;uncharacterized protein C9orf85 homolog APPROVED protein-coding ENSPPAG00000039954 9 70654632 70726379 + 11669093 NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 INVOLVED IN mitochondrial respiratory chain complex I assembly (inferred); response to oxidative stress (inferred); ASSOCIATED WITH adenylosuccinase lyase deficiency (ortholog); Alzheimer's disease (ortholog); common variable immunodeficiency 4 (ortholog); FOUND IN mitochondrial respiratory chain complex I (ortholog) 22 22 22 54615956 54624362 - 41066111 41074852 - 22978954 22987979 - 22301074;30032202 100993915 A0A2R9BP15 MODEL JARIFH010000023;XM_003814647 XP_003814695 A0A2R9BP15 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6 protein-coding ENSPPAG00000037220 22 41066111 41074852 - 11669100 TGM3 transglutaminase 3 ENCODES a protein that exhibits calcium ion binding (inferred); catalytic activity (inferred); metal ion binding (inferred); INVOLVED IN keratinocyte differentiation (inferred); ASSOCIATED WITH genetic disease (ortholog); hepatocellular carcinoma (ortholog); Huntington's disease-like 1 (ortholog); FOUND IN cytoplasm (inferred); extrinsic component of cytoplasmic side of plasma membrane (inferred); protein-containing complex (inferred) 20 20 20 3200507 3348273 + 2087637 2220144 + 2328145 2455842 + 22301074;30032202 100994168 A0A2R9AJY8 MODEL JARIFH010000021;XM_034947325;XM_034947326;XM_034947327;XM_034947328;XM_034947329;XM_034947330;XM_055104896;XM_055104897 XP_034803217;XP_034803219;XP_054960871;XP_054960872 A0A2R9AJY8 protein-glutamine gamma-glutamyltransferase E;transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) protein-coding ENSPPAG00000031787 20 2175160 2219561 + 11669119 HSH2D hematopoietic SH2 domain containing ENCODES a protein that exhibits protein-macromolecule adaptor activity (ortholog); INVOLVED IN negative regulation of B cell apoptotic process (ortholog); negative regulation of mitochondrial depolarization (ortholog); T cell activation (ortholog); ASSOCIATED WITH genetic disease (ortholog); FOUND IN cytosol (ortholog); mitochondrion (ortholog) 19 19 19 20017614 20030717 + 16611480 16624500 + 15629688 15643636 + 22301074;30032202 100994243 A0A2R9AKN8;A0A2R9AKP2 MODEL JARIFH010000020;XM_003813567;XM_034944400;XM_034944401 XP_003813615;XP_034800291 A0A2R9AKN8 protein-coding ENSPPAG00000031940 19 16611500 16624500 + 11669130 DNM2 dynamin 2 ENCODES a protein that exhibits D2 dopamine receptor binding (ortholog); GTPase activity (ortholog); nitric-oxide synthase binding (ortholog); INVOLVED IN aorta development (ortholog); cellular response to carbon monoxide (ortholog); cellular response to dopamine (ortholog); PARTICIPATES IN platelet-derived growth factor signaling pathway; syndecan signaling pathway; vascular endothelial growth factor signaling pathway; ASSOCIATED WITH alpha-mannosidosis (ortholog); autosomal dominant centronuclear myopathy (ortholog); centronuclear myopathy (ortholog); FOUND IN cell cortex (ortholog); cell junction (ortholog); centrosome (ortholog) 19 19 19 14637331 14750677 + 10974699 11107354 + 10272172 10386032 + 22301074;30032202 100995231 A0A2R8Z8E5;A0A2R8Z8G0;A0A2R8Z8M3 MODEL JARIFH010000020;XM_034944894;XM_034944895;XM_034944896;XM_034944897;XM_034944898;XM_034944899;XM_034944900;XM_034944901;XM_034944902;XM_034944903;XM_034944904;XM_034944905;XM_034944906 XP_034800789;XP_034800790;XP_034800792;XP_034800793;XP_034800794;XP_034800795;XP_034800796 A0A2R8Z8E5 LOC100972812;LOC100995231 dynamin-2 PROVISIONAL protein-coding ENSPPAG00000004096 19 10933672 11106478 + 11669147 C17H17orf58 chromosome 17 C17orf58 homolog 17 17 17 88836085 88841430 - 67118249 67120596 - 61923775 61929098 - 22301074 100995606 A0A2R9BE40 MODEL JARIFH010000018;XM_003812364;XM_008964750;XM_008964751 XP_003812412 A0A2R9BE40 UPF0450 protein C17orf58 homolog;UPF0450 protein C17orf58-like;chromosome 17 open reading frame, human C17orf58 APPROVED protein-coding ENSPPAG00000037013 17 67118249 67120596 - 11669162 MIF4GD MIF4G domain containing ENCODES a protein that exhibits identical protein binding (inferred); RNA binding (inferred); INVOLVED IN cap-dependent translational initiation (inferred); ASSOCIATED WITH genetic disease (ortholog); FOUND IN histone mRNA stem-loop binding complex (ortholog) 17 17 17 96128843 96133859 - 74766743 74771306 - 69213313 69218324 - 22301074;30032202 100996198 A0A2R8ZIB6;A0A2R8ZJ02;A0A2R8ZLB0;A0A2R8ZPH2 MODEL JARIFH010000018;XM_008965876;XM_008965877;XM_008965880;XM_008965881;XM_034942868;XM_034942869;XM_034942870;XM_034942871;XM_034942872;XM_034942874;XM_034942875;XM_057300271;XM_057300272 XP_008964124;XP_008964125;XP_008964128;XP_008964129;XP_034798759;XP_034798760;XP_034798761;XP_034798763;XP_034798765;XP_057156254;XP_057156255 A0A2R8ZJ02 protein-coding ENSPPAG00000019610 17 74766743 74770443 - 11669198 LOC103787120 tyrosine-protein phosphatase non-receptor type 2-like 1 1 1 70664211 70665424 + 157937462 157938598 - 154245708 154247114 - 103787120 MODEL JARIFH010000001 tyrosine-protein phosphatase non-receptor type 2 pseudogene APPROVED pseudo 11669226 LOC106634861 uncharacterized LOC106634861 6 6 6 40632166 40674186 + 30553142 30562611 + 29853531 29892930 + 106634861 MODEL JARIFH010000007;XR_001338209;XR_004671916;XR_004671917 ncrna 11669233 LOC106635269 putative uncharacterized protein FLJ44672 11 11 11 51723926 51727257 - 50106143 50112167 - 49434784 49435722 - 106635269 MODEL JARIFH010000012;XM_024930731 putative uncharacterized protein FLJ46235;uncharacterized LOC106635269 APPROVED pseudo 11669240 LOC106635474 polycomb group RING finger protein 3-like 14 14 14 58441664 58442268 + 56965273 56965877 + 38695306 38695910 + 106635474 MODEL JARIFH010000015 polycomb group RING finger protein 3 pseudogene APPROVED pseudo 11669241 SRGN serglycin ENCODES a protein that exhibits collagen binding (ortholog); INVOLVED IN granzyme-mediated programmed cell death signaling pathway (inferred); maintenance of granzyme B location in T cell secretory granule (inferred); maintenance of protease location in mast cell secretory granule (inferred); ASSOCIATED WITH Experimental Liver Cirrhosis (ortholog); genetic disease (ortholog); FOUND IN glutamatergic synapse (ortholog); Golgi membrane (ortholog); postsynaptic specialization, intracellular component (ortholog) 10 10 10 81239404 81256637 + 68089349 68106261 + 65554873 65572108 + 30032202 100967892 A0A2R9A1I9 MODEL JARIFH010000011;XM_003815917;XM_024930234 XP_003815965;XP_024786002 A0A2R9A1I9 protein-coding ENSPPAG00000027779 10 68089392 68106250 + 11669248 LOC100968022 proline-rich protein 13-like 8 8 8 84789561 84790707 - 90494621 90497797 - 88543308 88546472 - 100968022 MODEL JARIFH010000009 proline-rich protein 13 pseudogene APPROVED pseudo 11669249 SCFD1 sec1 family domain containing 1 ENCODES a protein that exhibits protein-containing complex binding (ortholog); syntaxin binding (ortholog); INVOLVED IN post-Golgi vesicle-mediated transport (ortholog); regulation of ER to Golgi vesicle-mediated transport (ortholog); response to hypoxia (ortholog); ASSOCIATED WITH amyotrophic lateral sclerosis (ortholog); Brain-Lung-Thyroid Syndrome (ortholog); genetic disease (ortholog); FOUND IN Golgi-associated vesicle (ortholog) 14 14 14 31170383 31277398 + 29602185 29709133 + 11401378 11508418 + 30032202 100968375 A0A2R9CCU5;A0A2R9CD15;A0A2R9CD20;A0A2R9CNG0 MODEL JARIFH010000015;XM_003821215;XM_003821216;XM_008974699 XP_003821263;XP_003821264;XP_008972947 A0A2R9CNG0 sec1 family domain-containing protein 1 protein-coding ENSPPAG00000042546 14 29602241 29709133 + 11669283 CHST10 carbohydrate sulfotransferase 10 ENCODES a protein that exhibits HNK-1 sulfotransferase activity (ortholog); INVOLVED IN learning (ortholog); long-term memory (ortholog); ASSOCIATED WITH autism spectrum disorder (ortholog); genetic disease (ortholog); FOUND IN Golgi apparatus (inferred); Golgi membrane (inferred); membrane (inferred) 2A 2A 27811461 27837341 + 101372705 101398242 - 22301074;30032202 100968589 A0A2R9C1M3 MODEL JARIFH010000002;XM_003815764;XM_003815766;XM_008968780;XM_008968781;XM_008968782;XM_008968783;XM_008968785;XM_014343902;XM_024927724;XM_034951986;XM_034951991;XM_034951992;XM_055107592;XM_055107593;XM_055107594;XM_055107595 XP_003815812;XP_003815814;XP_034807877;XP_034807882;XP_034807883;XP_054963567;XP_054963568;XP_054963569;XP_054963570 A0A2R9C1M3 protein-coding ENSPPAG00000039194 2A 101372705 101397850 - 11669316 SEC31B SEC31 homolog B, COPII coat complex component INVOLVED IN endoplasmic reticulum to Golgi vesicle-mediated transport (inferred); vesicle-mediated transport (inferred); ASSOCIATED WITH genetic disease (ortholog); FOUND IN endoplasmic reticulum (inferred); endoplasmic reticulum membrane (inferred); vesicle coat (inferred) 10 10 10 112375843 112408915 - 100567924 100600952 - 97086792 97120604 - 22301074;30032202 100969229 A0A2R9B684;A0A2R9B7Q5 MODEL JARIFH010000011;XM_034931284;XM_034931285;XM_034931286;XM_034931287;XM_034931289;XM_034931290;XM_034931291;XM_034931292;XM_034931293;XM_034931294;XM_034931295;XM_055093289 XP_054949264 A0A2R9B7Q5 protein-coding ENSPPAG00000035674 10 100568891 100598141 - 11669351 CHMP3 charged multivesicular body protein 3 ENCODES a protein that exhibits identical protein binding (ortholog); molecular function inhibitor activity (ortholog); phosphatidylinositol-4,5-bisphosphate binding (ortholog); INVOLVED IN endosome to lysosome transport (ortholog); mitotic metaphase chromosome alignment (ortholog); nucleus organization (ortholog); PARTICIPATES IN autophagy pathway; ASSOCIATED WITH CD8 Deficiency, Familial (ortholog); genetic disease (ortholog); FOUND IN early endosome (ortholog); late endosome (ortholog); midbody (ortholog) 2A 2A 2A 39819055 39879001 + 88105216 88224003 - 86559695 86619615 - 30032202 100970314 A0A2R8ZUG4 MODEL JARIFH010000002;XM_003816557 XP_003816605 A0A2R8ZUG4 LOC100970314;RNF103 ring finger protein 103 APPROVED protein-coding ENSPPAG00000027547 2A 88106242 88165104 - 11669365 KLK12 kallikrein related peptidase 12 ENCODES a protein that exhibits hydrolase activity (inferred); peptidase activity (inferred); serine-type endopeptidase activity (inferred); INVOLVED IN proteolysis (inferred); ASSOCIATED WITH genetic disease (ortholog) 19 19 19 59020338 59026083 - 56885704 56891516 - 47996689 48002335 - 22301074 100970754 A0A2R9BPY2;A0A2R9BQN3 MODEL JARIFH010000020;XM_034945562;XM_034945563;XM_034945564;XM_055103388;XM_055103389 XP_054959363;XP_054959364 A0A2R9BPY2 kallikrein-12 protein-coding ENSPPAG00000038770 19 56885704 56891516 - 11669376 LOC100971127 arachidonate 15-lipoxygenase type B ENCODES a protein that exhibits arachidonate 8(S)-lipoxygenase activity (ortholog); linoleate 9S-lipoxygenase activity (ortholog); INVOLVED IN hepoxilin biosynthetic process (ortholog); linoleic acid metabolic process (ortholog); lipoxygenase pathway (ortholog); PARTICIPATES IN acetylsalicylic acid pharmacodynamics pathway; antipyrine drug pathway; arachidonic acid metabolic pathway; ASSOCIATED WITH autism spectrum disorder (ortholog); common variable immunodeficiency (ortholog); cone-rod dystrophy 6 (ortholog); FOUND IN nucleus (ortholog) 17 17 17 70509809 70525379 - 48340759 48350808 - 43609146 43619713 - 22301074;30032202 100971127 A0A2R9BYI1;A0A2R9BYI2;A0A2R9C8I1 MODEL JARIFH010000018;XM_003818047;XM_055101075;XM_055101076;XM_055101077;XM_055101078 XP_003818095;XP_054957050;XP_054957051;XP_054957052;XP_054957053 A0A2R9BYI1 ALOX15B arachidonate 15-lipoxygenase B;arachidonate 15-lipoxygenase, type B;polyunsaturated fatty acid lipoxygenase ALOX15B APPROVED protein-coding ENSPPAG00000040178 17 48340777 48350808 - 11669397 C1QL4 complement C1q like 4 ENCODES a protein that exhibits identical protein binding (inferred); INVOLVED IN ERK1 and ERK2 cascade (ortholog); fibroblast proliferation (ortholog); negative regulation of ERK1 and ERK2 cascade (ortholog); ASSOCIATED WITH genetic disease (ortholog); FOUND IN extracellular space (inferred) 12 12 12 44844875 44849663 + 40301076 40304503 + 39414635 39419422 + 22301074 100971275 A0A2R9B3U0 MODEL JARIFH010000013;XM_003825833;XM_034935928 XP_003825881 A0A2R9B3U0 complement C1q-like protein 4 protein-coding ENSPPAG00000034273 12 40301076 40304503 + 11669401 LOC100972059 myeloid-associated differentiation marker-like FOUND IN membrane (inferred) 2A 2A 2A 92781774 92784555 + 34440025 34442209 - 33729909 33732066 - 100972059 A0A2R8Z9Y2 MODEL JARIFH010000002;XM_024927671 A0A2R8Z9Y2 pseudo ENSPPAG00000000808 11669404 LOC100972850 olfactory receptor 8A1-like 11 11 11 126260211 126261706 + 123203112 123204089 + 119287149 119288357 + 100972850 MODEL JARIFH010000012 pseudo 11669405 CXCL14 C-X-C motif chemokine ligand 14 ENCODES a protein that exhibits chemokine activity (inferred); cytokine activity (inferred); INVOLVED IN antimicrobial humoral immune response mediated by antimicrobial peptide (ortholog); inner ear development (ortholog); killing of cells of another organism (ortholog); ASSOCIATED WITH asthma (ortholog); contact dermatitis (ortholog); endometriosis (ortholog); FOUND IN Golgi apparatus (ortholog) 5 5 5 128994088 129002350 - 137100019 137108336 - 130960143 130967365 - 22301074;30032202 100973850 A0A2R9BWC6 MODEL JARIFH010000006;XM_003829258 XP_003829306 A0A2R9BWC6 C-X-C motif chemokine 14 protein-coding ENSPPAG00000039859 5 137100019 137108336 - 11669413 RLBP1 retinaldehyde binding protein 1 ENCODES a protein that exhibits 11-cis retinal binding (inferred); PARTICIPATES IN altered retinoid cycle metabolic pathway; retinitis pigmentosa pathway; retinoid cycle metabolic pathway; ASSOCIATED WITH Alpers-Huttenlocher syndrome (ortholog); Bloom syndrome (ortholog); Bothnia retinal dystrophy (ortholog); FOUND IN cell body (ortholog) 15 15 15 82460801 82474300 - 87108815 87117971 - 67901276 67913911 - 30032202 100973883 A0A2R9A3D4;A0A2R9A4L8 MODEL JARIFH010000016;XM_008973873;XM_034939392;XM_034939393 XP_008972121;XP_034795284 A0A2R9A4L8 retinaldehyde-binding protein 1 protein-coding ENSPPAG00000029103 15 87108815 87117971 - 11669424 CH25H cholesterol 25-hydroxylase ENCODES a protein that exhibits cholesterol 25-hydroxylase activity (inferred); iron ion binding (inferred); oxidoreductase activity (inferred); INVOLVED IN cholesterol metabolic process (ortholog); PARTICIPATES IN bile acid biosynthetic pathway; cerebrotendinous xanthomatosis pathway; congenital bile acid synthesis defect pathway; ASSOCIATED WITH autoimmune lymphoproliferative syndrome (ortholog); Familial Thoracic Aortic Aneurysm 6 (ortholog); genetic disease (ortholog); FOUND IN membrane (inferred) 10 10 10 101229539 101230993 - 89470908 89472278 - 85930638 85932065 - 22301074;30032202 100974384 A0A2R8ZN18 MODEL JARIFH010000011;XM_003825336 XP_003825384 A0A2R8ZN18 protein-coding ENSPPAG00000024010 10 89471441 89472259 - 11669429 ZSWIM5 zinc finger SWIM-type containing 5 ENCODES a protein that exhibits zinc ion binding (inferred); ASSOCIATED WITH Breast Neoplasms (ortholog); Charcot-Marie-Tooth disease dominant intermediate C (ortholog); developmental and epileptic encephalopathy (ortholog) 1 1 1 180745011 180932728 + 45684005 45867303 - 44320200 44507023 - 22301074;30032202 100974969 A0A2R9AUZ3 MODEL JARIFH010000001;XM_008965255 XP_008963503 A0A2R9AUZ3 zinc finger SWIM domain-containing protein 5 protein-coding ENSPPAG00000033791 1 45686060 45867309 - 11669455 LOC100975968 elongin-C-like 12 12 12 75350251 75351109 + 67453365 67454003 + 64849722 64851181 + 22301074;30032202 100975968 MODEL JARIFH010000013;XM_055095867 XP_054951842 transcription elongation factor B polypeptide 1-like APPROVED protein-coding 11669456 DCP1A decapping mRNA 1A ENCODES a protein that exhibits kinesin binding (ortholog); INVOLVED IN deadenylation-dependent decapping of nuclear-transcribed mRNA (inferred); methylguanosine-cap decapping (inferred); nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (inferred); ASSOCIATED WITH genetic disease (ortholog); FOUND IN dendrite (ortholog) 3 3 3 53285671 53351611 - 54449980 54514267 - 53231318 53291890 - 22301074;30032202 100976251 A0A2R9CGH1;A0A2R9CJ06;A0A2R9CQK4 MODEL JARIFH010000004;XM_003818732;XM_003818733 XP_003818780;XP_003818781 A0A2R9CJ06 DCP1 decapping enzyme homolog A;mRNA-decapping enzyme 1A protein-coding ENSPPAG00000043127 3 54449980 54514267 - 11669471 IMPA2 inositol monophosphatase 2 ENCODES a protein that exhibits hydrolase activity (inferred); inositol monophosphate 1-phosphatase activity (inferred); inositol monophosphate 3-phosphatase activity (inferred); INVOLVED IN inositol biosynthetic process (inferred); phosphatidylinositol phosphate biosynthetic process (inferred); response to lithium ion (inferred); ASSOCIATED WITH bipolar disorder (ortholog); chromosome 18p deletion syndrome (ortholog); dystonia (ortholog); FOUND IN cytoplasm (inferred) 18 18 18 11704221 11754841 - 4557280 4608985 - 2293788 2344422 - 22301074;30032202 100976653 A0A2R8ZGM8;A0A2R8ZGN3;A0A2R8ZH89 MODEL JARIFH010000019;XM_003811702 XP_003811750 A0A2R8ZGM8 protein-coding ENSPPAG00000017614 18 4557280 4608991 - 11669483 KCTD21 potassium channel tetramerization domain containing 21 ENCODES a protein that exhibits cullin family protein binding (inferred); histone deacetylase binding (inferred); identical protein binding (inferred); INVOLVED IN negative regulation of smoothened signaling pathway (inferred); protein homooligomerization (inferred); protein ubiquitination (inferred); ASSOCIATED WITH genetic disease (ortholog); intellectual disability (ortholog) 11 11 11 80148273 80165953 - 76853124 76870500 - 73231381 73248796 - 22301074;30032202 100976702 A0A2R8Z5X6 MODEL JARIFH010000012;XM_003805160;XM_008968278;XM_008968284;XM_034933446;XM_034933447;XM_055094729 XP_003805208;XP_008966526;XP_034789337;XP_054950704 A0A2R8Z5X6 BTB/POZ domain-containing protein KCTD21;potassium channel tetramerisation domain containing 21 protein-coding ENSPPAG00000000521 11 76855648 76856430 - 11669496 LOC100979791 inosine-5'-monophosphate dehydrogenase 1-like 10 10 10 89928597 89940741 - 76962460 76971613 - 74298944 74310132 - 100979791 MODEL JARIFH010000011 pseudo 11669498 NT5DC2 5'-nucleotidase domain containing 2 ENCODES a protein that exhibits hydrolase activity (inferred); metal ion binding (inferred); ASSOCIATED WITH congenital disorder of glycosylation In (ortholog); COVID-19 (ortholog); genetic disease (ortholog) 3 3 3 52523951 52534037 - 53694012 53703186 - 52466032 52475396 - 30032202 100981312 A0A2R9B4Q8;A0A2R9B673;A0A2R9BBK9 MODEL JARIFH010000004;XM_008972126;XM_008972127;XM_055110021;XM_057301785;XM_057301786;XM_057301787 XP_008970374;XP_008970375;XP_054965996;XP_057157768;XP_057157769;XP_057157770 A0A2R9B673 5'-nucleotidase domain-containing protein 2 protein-coding ENSPPAG00000035408 3 53694113 53706537 - 11669518 EPO erythropoietin ENCODES a protein that exhibits cytokine activity (inferred); erythropoietin receptor binding (inferred); hormone activity (inferred); INVOLVED IN acute-phase response (ortholog); apoptotic process (ortholog); embryo implantation (ortholog); PARTICIPATES IN erythropoietin signaling pathway; hypoxia inducible factor pathway; ASSOCIATED WITH acute kidney failure (ortholog); Acute Subdural Hematoma (ortholog); Acute-Phase Reaction (ortholog); FOUND IN cell body (ortholog); extracellular space (ortholog) 7 7 7 166895649 166900396 + 106148062 106150974 + 92747671 92750886 + 22301074;30032202 100981507 A0A2R9CD53 MODEL JARIFH010000008;XM_003812904 XP_003812952 A0A2R9CD53 protein-coding ENSPPAG00000042182 7 106148062 106150974 + 11669527 LOC100982221 olfactory receptor 10X1 ASSOCIATED WITH gastrointestinal stromal tumor (ortholog); genetic disease (ortholog); parathyroid carcinoma (ortholog) 1 1 1 91011358 91012338 + 137728627 137729607 - 133937946 133938926 - 22301074 100982221 MODEL JARIFH010000001;XM_003820993 XP_003821041 protein-coding 11669530 FBXO42 F-box protein 42 ASSOCIATED WITH chromosome 1p36 deletion syndrome (ortholog); genetic disease (ortholog) 1 1 1 209817242 209923531 + 16375319 16481012 - 15383505 15489800 - 22301074 100984253 A0A2R9B1R0 MODEL JARIFH010000001;XM_003806235 XP_003806283 A0A2R9B1R0 F-box only protein 42 protein-coding ENSPPAG00000034938 1 16375319 16481012 - 11669544 CBLB Cbl proto-oncogene B ENCODES a protein that exhibits protein kinase binding (ortholog); INVOLVED IN CD4-positive, alpha-beta T cell proliferation (ortholog); cellular response to hydrogen peroxide (ortholog); immune response (ortholog); ASSOCIATED WITH Experimental Arthritis (ortholog); Experimental Autoimmune Encephalomyelitis (ortholog); genetic disease (ortholog); FOUND IN cytosol (inferred); nucleoplasm (inferred) 3 3 3 103609269 103823777 - 109690120 109905306 - 102752406 102966414 - 22301074;30032202 100984607 A0A2R9AMN4;A0A2R9AS48 MODEL JARIFH010000004;XM_003825051;XM_003825052;XM_008978747;XM_008978749;XM_024928239;XM_024928240;XM_024928241;XM_024928242;XM_024928244;XM_024928245;XM_024928246;XM_024928247;XM_034957045;XM_034957046;XM_055110232;XM_055110233;XM_057301845;XM_057301846;XM_057301847;XM_057301848;XM_057301849;XM_057301850;XM_057301851;XM_057301852;XM_057301853 XP_003825099;XP_003825100;XP_008976995;XP_024784008;XP_024784010;XP_024784013;XP_024784014;XP_024784015;XP_054966207;XP_054966208;XP_057157828;XP_057157829;XP_057157830;XP_057157831;XP_057157832;XP_057157833;XP_057157834;XP_057157835;XP_057157836 A0A2R9AMN4 Cbl proto-oncogene, E3 ubiquitin protein ligase B;E3 ubiquitin-protein ligase CBL-B protein-coding ENSPPAG00000032439 3 109690120 109905191 - 11669583 ZNRD2 zinc ribbon domain containing 2 ENCODES a protein that exhibits identical protein binding (ortholog); ASSOCIATED WITH Aicardi-Goutieres Syndrome 3 (ortholog); Bardet-Biedl syndrome (ortholog); genetic disease (ortholog) 11 11 11 67840054 67844238 + 64263692 64266235 + 60928869 60930875 + 100984865 A0A2R9B286;A0A2R9B417 MODEL JARIFH010000012;XM_003828632 XP_003828680 A0A2R9B417 SSSCA1 Sjoegren syndrome/scleroderma autoantigen 1;Sjogren syndrome/scleroderma autoantigen 1 APPROVED protein-coding ENSPPAG00000035017 11 64264234 64266970 + 11669591 CMTM1 CKLF like MARVEL transmembrane domain containing 1 ASSOCIATED WITH autosomal dominant dyskeratosis congenita 6 (ortholog); cataract 5 multiple types (ortholog); genetic disease (ortholog); FOUND IN membrane (inferred) 16 16 16 81981180 81994158 + 65985873 65998811 + 46884235 46897219 + 22301074 100986038 A0A2R8ZVA9;A0A2R8ZVB6;A0A2R8ZWI8;A0A2R8ZYS6;A0A2R8ZYT5;A0A2R9A0Y6;A0A2R9A0Z4 MODEL JARIFH010000017;XM_008977345;XM_034940355;XM_034940356;XR_004666876 XP_008975593;XP_034796247 A0A2R9A0Z4 LOC100986038 CKLF-like MARVEL transmembrane domain-containing protein 1;CKLF-like MARVEL transmembrane domain-containing protein 2B APPROVED protein-coding ENSPPAG00000027683 16 65972218 65998677 + 11669599 FOXK2 forkhead box K2 ENCODES a protein that exhibits DNA-binding transcription activator activity, RNA polymerase II-specific (ortholog); DNA-binding transcription repressor activity, RNA polymerase II-specific (ortholog); magnesium ion binding (ortholog); INVOLVED IN canonical glycolysis (ortholog); intracellular glucose homeostasis (ortholog); negative regulation of autophagy (ortholog); ASSOCIATED WITH genetic disease (ortholog); male infertility (ortholog); primary ovarian insufficiency (ortholog); FOUND IN cytoplasm (ortholog); intracellular membrane-bounded organelle (ortholog); mitochondrion (ortholog) 17 17 17 103960043 104051885 + 82735098 82803573 + 76930135 77018294 + 22301074;30032202 100986372 A0A2R9ANG6;A0A2R9ANH1;A0A2R9APL5 MODEL JARIFH010000018;XM_034943208 XP_034799099 A0A2R9ANG6;A0A2R9APL5 forkhead box protein K2 protein-coding ENSPPAG00000031364;ENSPPAG00000032839 11669610 CDK5R2 cyclin dependent kinase 5 regulatory subunit 2 ENCODES a protein that exhibits actin binding (ortholog); cyclin-dependent protein serine/threonine kinase activator activity (ortholog); INVOLVED IN cerebellum development (ortholog); hippocampus development (ortholog); layer formation in cerebral cortex (ortholog); ASSOCIATED WITH alacrima, achalasia, and impaired intellectual development syndrome (ortholog); cerebrotendinous xanthomatosis (ortholog); genetic disease (ortholog); FOUND IN cytoplasm (ortholog); growth cone (ortholog); membrane (ortholog) 2B 2B 2B 121605794 121608306 + 224810584 224813739 + 106217926 106220444 + 22301074;30032202 100988812 MODEL JARIFH010000003;XM_034955177 XP_034811068 cyclin-dependent kinase 5 activator 2 protein-coding 11669617 LOC100988926 putative uncharacterized protein encoded by CRHR1-IT1 17 17 17 20574289 20600514 + 11849734 11856708 - 11096522 11113667 + 100988926 MODEL JARIFH010000018;XM_055101437;XR_004667137;XR_004667138;XR_004667139;XR_004667140;XR_008621677 XP_054957412 LOC100985919 uncharacterized LOC100988926 APPROVED protein-coding 11669621 LOC100988971 protein-lysine N-methyltransferase EEF2KMT-like 4 9441231 9447577 + 100988971 MODEL JARIFH010000027;XM_055107320 XP_054963295 LOC100995595 putative protein N-methyltransferase FAM86B2 APPROVED protein-coding 11669622 LOC100989216 uncharacterized LOC100989216 17 17 17 96688792 96691142 - 75321824 75323120 - 69770680 69773030 - 100989216 MODEL JARIFH010000018;XM_003813278 XP_003813326 uncharacterized protein LOC100989216 protein-coding 11669627 CRPPA CDP-L-ribitol pyrophosphorylase A ENCODES a protein that exhibits catalytic activity (inferred); cytidylyltransferase activity (inferred); D-ribitol-5-phosphate cytidylyltransferase activity (inferred); INVOLVED IN axon guidance (ortholog); protein glycosylation (ortholog); ASSOCIATED WITH autosomal recessive limb-girdle muscular dystrophy type 2U (ortholog); congenital muscular dystrophy (ortholog); congenital muscular dystrophy due to integrin alpha-7 deficiency (ortholog); FOUND IN cytosol (inferred) 7 7 7 69249358 69581484 - 16076235 16405268 - 16747569 17078389 - 22301074;30032202 100989529 A0A2R9AYY5;A0A2R9B2Q5 MODEL JARIFH010000008;XM_003825009;XM_008978703;XM_034963741;XM_034963742 XP_003825057;XP_008976951;XP_034819632;XP_034819633 A0A2R9AYY5 ISPD D-ribitol-5-phosphate cytidylyltransferase;isoprenoid synthase domain containing APPROVED protein-coding ENSPPAG00000034409 7 16077091 16405220 - 11669647 SLAMF6 SLAM family member 6 INVOLVED IN natural killer cell differentiation (ortholog); natural killer cell proliferation (ortholog); ASSOCIATED WITH autoimmune interstitial lung, joint, and kidney disease (ortholog); gastrointestinal stromal tumor (ortholog); genetic disease (ortholog); FOUND IN membrane (inferred); plasma membrane (inferred) 1 1 1 89055259 89107209 + 139761121 139799348 - 135838862 135878207 - 30032202 100991797 A0A2R9BCH2;A0A2R9BJ60 MODEL JARIFH010000001;XM_003811876;XM_008964268;XM_008964269;XM_055109466 XP_054965441 A0A2R9BJ60 protein-coding ENSPPAG00000036502 1 139761121 139799348 - 11669666 LOC100992635 olfactory receptor 4C3 ENCODES a protein that exhibits G protein-coupled receptor activity (inferred); olfactory receptor activity (inferred); INVOLVED IN detection of chemical stimulus involved in sensory perception of smell (inferred); G protein-coupled receptor signaling pathway (inferred); signal transduction (inferred); ASSOCIATED WITH intellectual disability (ortholog); FOUND IN membrane (inferred) 11 11 11 50560179 50561214 + 48826896 48827919 + 48285340 48286363 + 22301074 100992635 A0A2R9CE44 MODEL JARIFH010000012;XM_003815165 XP_003815213 A0A2R9CE44 protein-coding ENSPPAG00000042767 11669671 LOC100993682 WD repeat-containing protein 87-like 19 19 19 46002877 46024700 - 43506438 43531351 - 34929682 34956252 - 22301074 100993682 MODEL JARIFH010000020;XM_034945528;XM_055103142;XM_055103143 XP_054959117;XP_054959118 uncharacterized LOC100993682 APPROVED protein-coding 11669679 DRD5 dopamine receptor D5 ENCODES a protein that exhibits dopamine neurotransmitter receptor activity (ortholog); dopamine neurotransmitter receptor activity, coupled via Gs (ortholog); G-protein alpha-subunit binding (ortholog); INVOLVED IN adenylate cyclase-activating dopamine receptor signaling pathway (ortholog); adenylate cyclase-activating G protein-coupled receptor signaling pathway (ortholog); associative learning (ortholog); PARTICIPATES IN dopamine signaling pathway; dopamine signaling pathway via D1 family of receptors; G protein mediated signaling pathway via Galphaq family; ASSOCIATED WITH Alzheimer's disease (ortholog); attention deficit hyperactivity disorder (ortholog); Benign Essential Blepharospasm (ortholog); FOUND IN axon (ortholog); brush border membrane (ortholog); dendrite (ortholog) 4 4 4 10235569 10237977 + 9508711 9511072 + 4189536 4193144 + 22301074;30032202 100994450 A0A2R8ZLP4;A0A2R9BB98 MODEL JARIFH010000005;XM_003826782 XP_003826830 A0A2R8ZLP4;A0A2R9BB98 D(1B) dopamine receptor protein-coding ENSPPAG00000023786;ENSPPAG00000036284 4 9509094 9510527 + 11669701 PSG4 pregnancy specific beta-1-glycoprotein 4 ASSOCIATED WITH autism spectrum disorder (ortholog); genetic disease (ortholog); schizophrenia (ortholog) 19 19 19 51208682 51222727 - 48718429 48731482 - 40122524 40136035 - 30032202 103785307 A0A2R9C085;A0A2R9C0S5;A0A2R9CAC9 MODEL JARIFH010000020;XM_008966589;XM_008966591;XM_024926423 XP_008964837;XP_008964839;XP_024782191 A0A2R9C0S5 LOC103785307 pregnancy-specific beta-1-glycoprotein 2;pregnancy-specific beta-1-glycoprotein 4;pregnancy-specific beta-1-glycoprotein 5 APPROVED protein-coding ENSPPAG00000040480 19 48718426 48731482 - 11669730 MORN2 MORN repeat containing 2 ASSOCIATED WITH genetic disease (ortholog); Lynch syndrome (ortholog); Neurodevelopmental Disorders (ortholog) 2A 2A 2A 87589998 87597041 - 39668551 39675243 + 38913533 38920189 + 103785947 A0A2R8ZKM2;A0A2R9ARL6 MODEL JARIFH010000002;XM_008970883;XM_008970884;XM_034952967;XM_034952968 XP_008969131 A0A2R8ZKM2 MORN repeat-containing protein 2 protein-coding ENSPPAG00000018657;ENSPPAG00000033212 11669748 LOC100968538 dnaJ homolog subfamily C member 17-like 2B 2B 2B 95938550 95940071 - 198454599 198455645 - 80548631 80550152 - 100968538 MODEL JARIFH010000003 dnaJ homolog subfamily C member 17 pseudogene APPROVED pseudo 11669749 TNRC18 trinucleotide repeat containing 18 ASSOCIATED WITH genetic disease (ortholog); megacolon (ortholog); FOUND IN cytosol (ortholog); mitochondrion (ortholog); nuclear membrane (ortholog) 7 7 7 58596206 58715870 - 5578415 5664927 - 5562262 5679825 - 22301074 100969305 MODEL JARIFH010000008;XM_034963590;XM_034963591;XM_034963592;XM_034963593;XM_034963594;XM_034963595;XM_034963596;XM_055114887;XM_055114888 XP_034819481;XP_034819482;XP_034819484;XP_034819485;XP_034819486;XP_054970862;XP_054970863 LOC100987693 trinucleotide repeat-containing gene 18 protein-like PROVISIONAL protein-coding 11669781 TEAD2 TEA domain transcription factor 2 ENCODES a protein that exhibits disordered domain specific binding (inferred); DNA binding (inferred); DNA-binding transcription factor activity (inferred); INVOLVED IN cellular response to retinoic acid (ortholog); embryonic heart tube morphogenesis (ortholog); lateral mesoderm development (ortholog); ASSOCIATED WITH developmental and epileptic encephalopathy 12 (ortholog); genetic disease (ortholog); polycystic ovary syndrome (ortholog); FOUND IN cytosol (inferred); intracellular membrane-bounded organelle (inferred); nucleoplasm (inferred) 19 19 19 57379408 57400615 - 55279551 55301219 - 46355283 46377224 - 22301074;30032202 100969496 A0A2R9CHD0;A0A2R9CHD4 MODEL JARIFH010000020;XM_008966938;XM_034946180;XM_034946181;XM_034946182;XM_034946183;XM_034946184;XM_034946185;XM_034946186;XM_034946187;XM_034946188;XM_055103553;XM_055103554;XM_055103555;XM_055103556;XM_055103557;XM_055103558;XM_055103559;XM_055103560;XM_057300601;XM_057300602;XM_057300603;XM_057300604 XP_008965186;XP_034802071;XP_034802072;XP_054959528;XP_054959529;XP_054959530;XP_054959531;XP_054959532;XP_054959533;XP_054959534;XP_054959535;XP_057156584;XP_057156585;XP_057156586;XP_057156587 A0A2R9CHD0 transcriptional enhancer factor TEF-4 protein-coding ENSPPAG00000041515 19 55280287 55299341 - 11669798 SH3RF3 SH3 domain containing ring finger 3 ENCODES a protein that exhibits metal ion binding (inferred); ubiquitin protein ligase activity (inferred); INVOLVED IN positive regulation of JNK cascade (inferred); protein autoubiquitination (inferred); protein ubiquitination (inferred); ASSOCIATED WITH amphetamine abuse (ortholog); genetic disease (ortholog) 2A 2A 2A 18193284 18567272 - 111066794 111222876 + 92137951 92519627 - 22301074 100970352 A0A2R8ZBB2 MODEL JARIFH010000002;XM_034953589 XP_034809480 A0A2R8ZBB2 E3 ubiquitin-protein ligase SH3RF3;SH3 domain-containing RING finger protein 3 protein-coding ENSPPAG00000010553 2A 110848452 111219915 + 11669810 CHMP7 charged multivesicular body protein 7 INVOLVED IN autophagosome maturation (inferred); autophagy (inferred); exit from mitosis (inferred); ASSOCIATED WITH Conotruncal Cardiac Defects (ortholog); genetic disease (ortholog); FOUND IN nuclear pore (ortholog) 8 8 8 17477455 17495395 + 19434829 19450221 + 22497479 22513005 + 30032202 100970480 A0A2R9CMM0 MODEL JARIFH010000009;XM_008977217;XM_034965837 XP_008975465;XP_034821728 A0A2R9CMM0 protein-coding ENSPPAG00000044136 8 19434829 19450221 + 11669824 C4H4orf17 chromosome 4 C4orf17 homolog ASSOCIATED WITH genetic disease (ortholog) 4 4 4 97876607 97908201 + 102595856 102627084 + 91934411 91966190 + 100972348 A0A2R8Z7Y8 MODEL JARIFH010000005;XM_003829932 XP_003829980 A0A2R8Z7Y8 chromosome 4 open reading frame, human C4orf17;uncharacterized protein C4orf17 homolog APPROVED protein-coding ENSPPAG00000003693 4 102595784 102627084 + 11669837 PHLDB1 pleckstrin homology like domain family B member 1 INVOLVED IN positive regulation of basement membrane assembly involved in embryonic body morphogenesis (inferred); regulation of epithelial to mesenchymal transition (inferred); regulation of gastrulation (inferred); ASSOCIATED WITH Bardet-Biedl syndrome (ortholog); CD3epsilon deficiency (ortholog); Chromosome 11, Partial Trisomy 11q (ortholog); FOUND IN basal cortex (inferred); cytosol (inferred); intercellular bridge (inferred) 11 11 11 120417865 120468493 + 117376205 117426391 + 113446275 113496941 + 22301074;30032202 100973308 A0A2R9B423;A0A2R9B477;A0A2R9B480;A0A2R9B4C3;A0A2R9B5R0;A0A2R9B834;A0A2R9B839;A0A2R9B853 MODEL JARIFH010000012;XM_003820036;XM_008973481;XM_008973485;XM_008973487;XM_034933819;XM_034933820;XM_034933821;XM_034933822;XM_034933823;XM_034933824;XM_034933825;XM_034933826;XM_034933827;XM_034933828;XM_034933829;XM_034933830;XM_034933831;XM_034933832;XM_034933833;XM_034933834;XM_034933835;XM_034933836;XM_034933837;XM_055094933;XM_055094934;XM_055094935;XM_055094936;XM_055094937;XM_055094938;XM_055094939;XM_055094940;XM_055094941;XM_055094942;XM_055094943;XM_055094944;XM_055094945;XM_055094946;XM_055094947;XM_055094948;XM_055094949;XM_055094950;XM_055094951;XM_055094952;XM_055094953;XM_057299262 XP_034789716;XP_034789719;XP_034789725;XP_034789726;XP_054950908;XP_054950909;XP_054950910;XP_054950911;XP_054950912;XP_054950913;XP_054950914;XP_054950915;XP_054950916;XP_054950917;XP_054950918;XP_054950919;XP_054950920;XP_054950921;XP_054950922;XP_054950923;XP_054950924;XP_054950925;XP_054950926;XP_054950927;XP_054950928;XP_057155245 A0A2R9B477 pleckstrin homology-like domain family B member 1 protein-coding ENSPPAG00000035312 11 117376205 117426391 + 11669912 LOC100974961 E1A-binding protein p400-like 15 15 15 10491302 10495216 + 25857597 25861633 - 1481140 1482291 + 100974961 MODEL JARIFH010000016;XM_008953391 pollen-specific leucine-rich repeat extensin-like protein 1;uncharacterized LOC100974961 APPROVED pseudo 11669918 LOC100974972 olfactory receptor 2H2 ENCODES a protein that exhibits G protein-coupled receptor activity (inferred); olfactory receptor activity (inferred); INVOLVED IN detection of chemical stimulus involved in sensory perception of smell (inferred); G protein-coupled receptor signaling pathway (inferred); sensory perception of smell (inferred); FOUND IN membrane (inferred); plasma membrane (inferred) 6 6 6 40166291 40171649 + 30048740 30051655 + 29390300 29394986 + 22301074 100974972 A0A2R8ZGF0 MODEL JARIFH010000007;XM_034961667;XM_055113313 XP_054969288 A0A2R8ZGF0 protein-coding ENSPPAG00000007853 6 30050638 30051576 + 11669924 TOM1L2 target of myb1 like 2 membrane trafficking protein ENCODES a protein that exhibits clathrin binding (inferred); phosphatidylinositol binding (inferred); protein kinase binding (inferred); INVOLVED IN negative regulation of mitotic nuclear division (inferred); protein transport (inferred); signal transduction (inferred); ASSOCIATED WITH autistic disorder (ortholog); Birt-Hogg-Dube syndrome (ortholog); common variable immunodeficiency 2 (ortholog) 17 17 17 57072480 57199566 - 38272362 38399178 + 33324590 33451688 + 22301074;30032202 100975044 A0A2R8ZNF3;A0A2R8ZNG0;A0A2R8ZNG9;A0A2R8ZPR5;A0A2R8ZRE5;A0A2R8ZRF4 MODEL JARIFH010000018;XM_003808783;XM_003808786;XM_008960883;XM_008960884;XM_008960885;XM_008960886;XM_034942303;XM_034942304;XM_034942305;XM_034942306 XP_003808831;XP_003808834;XP_008959131;XP_008959132;XP_008959133;XP_008959134 A0A2R8ZNF3 LOC117976535 TOM1-like protein 2;target of myb1-like 2;uncharacterized LOC117976535;uncharacterized protein LOC117976535 PROVISIONAL protein-coding ENSPPAG00000025001 17 38272362 38399178 + 11669954 NCAM2 neural cell adhesion molecule 2 ENCODES a protein that exhibits identical protein binding (inferred); INVOLVED IN axonal fasciculation (ortholog); ASSOCIATED WITH Alzheimer's disease (ortholog); amenorrhea (ortholog); genetic disease (ortholog); FOUND IN axon (ortholog) 21 21 21 12291281 12838832 + 21061757 21602254 + 7703278 8250763 + 22301074;30032202 100975340 A0A2R9API8 MODEL JARIFH010000022;XM_008972557;XM_034947985;XM_034947987;XM_034947988;XM_057300937 XP_008970805;XP_034803876;XP_034803878;XP_057156920 A0A2R9API8 protein-coding ENSPPAG00000031885 21 21344602 21601438 + 11669981 SYT7 synaptotagmin 7 ENCODES a protein that exhibits calcium ion binding (ortholog); calmodulin binding (ortholog); clathrin binding (ortholog); INVOLVED IN calcium ion regulated lysosome exocytosis (ortholog); calcium ion-regulated exocytosis of neurotransmitter (ortholog); calcium-dependent activation of synaptic vesicle fusion (ortholog); PARTICIPATES IN calcium/calcium-mediated signaling pathway; insulin secretion pathway; ASSOCIATED WITH genetic disease (ortholog); Hereditary Paraganglioma-Pheochromocytoma Syndromes (ortholog); intellectual disability (ortholog); FOUND IN axon terminus (ortholog); dendrite (ortholog); dense core granule (ortholog) 11 11 11 63727088 63792718 - 60175403 60242375 - 56814694 56880439 - 22301074;30032202 100977424 A0A2R9C8I2;A0A2R9C8J4;A0A2R9C8J9;A0A2R9C8V5;A0A2R9CBC1;A0A2R9CJ88;A0A2R9CJ93 MODEL JARIFH010000012;XM_003828452;XM_003828453;XM_008953864;XM_008953865;XM_008953866;XM_008953867;XM_008953868;XM_008953870;XM_034932748;XM_034932750 XP_003828500;XP_003828501;XP_008952112;XP_008952113;XP_008952114;XP_008952115;XP_008952116;XP_008952118;XP_034788639 A0A2R9CJ93 synaptotagmin-7 protein-coding ENSPPAG00000041839 11 60175403 60242375 - 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor ENCODES a protein that exhibits DNA helicase activity (ortholog); RNA polymerase binding (ortholog); sequence-specific DNA binding (ortholog); INVOLVED IN DNA damage response (ortholog); DNA protection (ortholog); DNA repair (ortholog); PARTICIPATES IN altered nucleotide excision repair pathway; nucleotide excision repair pathway; ASSOCIATED WITH age related macular degeneration 5 (ortholog); arthrogryposis multiplex congenita (ortholog); cataract (ortholog); FOUND IN B-WICH complex (ortholog); nuclear body (ortholog) 10 10 61721084 61812606 - 44703720 44784948 + 22301074;30032202 100978198 A0A2R8Z9V9;A0A2R8ZA95 MODEL JARIFH010000011;XM_003809030;XM_008961167;XM_008961168;XM_034930466;XM_034930467;XM_055092782;XM_057298888;XM_057298889 XP_003809078;XP_008959415;XP_054948757;XP_057154871;XP_057154872 A0A2R8ZA95 LOC100978198 DNA excision repair protein ERCC-6;excision repair cross-complementing rodent repair deficiency, complementation group 6;piggyBac transposable element-derived protein 3 APPROVED protein-coding ENSPPAG00000008110 11670022 TNFSF13 TNF superfamily member 13 ENCODES a protein that exhibits cytokine activity (inferred); signaling receptor binding (inferred); tumor necrosis factor receptor binding (inferred); INVOLVED IN germinal center formation (ortholog); immunoglobulin mediated immune response (ortholog); positive regulation of cell population proliferation (ortholog); ASSOCIATED WITH B-Cell Chronic Lymphocytic Leukemia (ortholog); B-lymphoblastic leukemia/lymphoma (ortholog); Colorectal Neoplasms (ortholog); FOUND IN external side of plasma membrane (ortholog) 17 17 17 17119099 17122688 + 7576518 7579834 + 7589931 7593527 + 22301074;30032202 100978212 A0A2R8ZPT3;A0A2R8ZPT5;A0A2R8ZSV5;A0A2R8ZVN2 MODEL JARIFH010000018;XM_003810080;XM_003810081;XM_008962444;XM_024926279;XM_034941456 XP_003810128;XP_003810129;XP_008960692;XP_024782047;XP_034797347 A0A2R8ZVN2 tumor necrosis factor ligand superfamily member 13;tumor necrosis factor superfamily member 13 APPROVED protein-coding ENSPPAG00000025960 17 7576465 7579834 + 11670046 SOCS3 suppressor of cytokine signaling 3 ENCODES a protein that exhibits miRNA binding (inferred); phosphotyrosine residue binding (inferred); protein tyrosine kinase inhibitor activity (inferred); INVOLVED IN animal organ regeneration (ortholog); branching involved in labyrinthine layer morphogenesis (ortholog); cell differentiation (ortholog); PARTICIPATES IN erythropoietin signaling pathway; insulin signaling pathway; interleukin-2 signaling pathway; ASSOCIATED WITH atherosclerosis (ortholog); Burns (ortholog); cholangiocarcinoma (ortholog); FOUND IN cytoplasmic side of plasma membrane (ortholog) 17 17 17 99235744 99239041 - 77981752 77985059 - 72433206 72436500 - 22301074;30032202 100978589 A0A2R8ZLZ5 MODEL JARIFH010000018;XM_003818272 XP_003818320 A0A2R8ZLZ5 protein-coding ENSPPAG00000015909 17 77983389 77984066 - 11670052 ZNF597 zinc finger protein 597 ENCODES a protein that exhibits metal ion binding (inferred); sequence-specific double-stranded DNA binding (inferred); INVOLVED IN regulation of DNA-templated transcription (inferred); ASSOCIATED WITH epilepsy (ortholog); genetic disease (ortholog); idiopathic generalized epilepsy (ortholog) 16 16 16 7743651 7755334 - 3532027 3543377 - 2355696 2366850 - 30032202 100978790 A0A2R9AT38 MODEL JARIFH010000017;XM_003815149;XM_055100757 XP_003815197;XP_054956732 A0A2R9AT38 protein-coding ENSPPAG00000033411 16 3532027 3543377 - 11670063 ZNF483 zinc finger protein 483 ENCODES a protein that exhibits DNA binding (inferred); DNA-binding transcription factor activity (inferred); DNA-binding transcription repressor activity, RNA polymerase II-specific (inferred); INVOLVED IN cell fate commitment (inferred); cellular developmental process (inferred); negative regulation of transcription by RNA polymerase II (inferred); ASSOCIATED WITH genetic disease (ortholog); FOUND IN cytoplasm (inferred); nucleus (inferred) 9 9 9 27846723 27900164 - 110824701 110875895 + 82662886 82714448 + 22301074;30032202 100980006 A0A2R9C946;A0A2R9C947;A1YG04;A1YG05 MODEL DQ977193;JARIFH010000010;XM_003810869;XM_014346235;XM_034967980;XM_034967981;XM_055117253;XM_055117254;XM_055117255;XM_055117256;XM_055117257 ABM54229;ABM54230;XP_003810917;XP_014201721;XP_034823871;XP_034823872;XP_054973228;XP_054973229;XP_054973230;XP_054973231;XP_054973232 A0A2R9C947 protein-coding ENSPPAG00000041938 9 110826949 110875507 + 11670079 LOC100980041 olfactory receptor 4A47 ENCODES a protein that exhibits G protein-coupled receptor activity (inferred); olfactory receptor activity (inferred); INVOLVED IN detection of chemical stimulus involved in sensory perception of smell (inferred); G protein-coupled receptor signaling pathway (inferred); sensory perception of smell (inferred); FOUND IN membrane (inferred); plasma membrane (inferred) 11 11 56223570 56224469 + 50904048 50905099 + 22301074 100980041 A0A2R8ZQ92 MODEL JARIFH010000012;XM_003815823 XP_003815871 A0A2R8ZQ92 protein-coding ENSPPAG00000025499 11 50904118 50905047 + 11670110 AFTPH aftiphilin ENCODES a protein that exhibits clathrin binding (inferred); INVOLVED IN intracellular transport (inferred); ASSOCIATED WITH genetic disease (ortholog); FOUND IN AP-1 adaptor complex (inferred); cytosol (inferred); Golgi apparatus (inferred) 2A 2A 2A 61810793 61878746 - 65714858 65782876 + 64591970 64659953 + 30032202 100981396 A0A2R8ZYC8;A0A2R9A2G3 MODEL JARIFH010000002;XM_003830896;XM_003830897;XM_008956320;XM_008956322;XR_609274;XR_609275 XP_003830944;XP_003830945;XP_008954568;XP_008954570 A0A2R9A2G3 protein-coding ENSPPAG00000028223 2A 65714858 65782868 + 11670131 RPL22L1 ribosomal protein L22 like 1 ENCODES a protein that exhibits structural constituent of ribosome (inferred); INVOLVED IN translation (inferred); ASSOCIATED WITH Fanconi syndrome (ortholog); genetic disease (ortholog); FOUND IN ribonucleoprotein complex (inferred); ribosome (inferred) 3 3 3 168758645 168762535 - 176065204 176069274 - 167879172 167883064 - 22301074;30032202 100981532 A0A2R9B3J2 MODEL JARIFH010000004;XM_003831927;XM_008957306 XP_003831975;XP_008955554 A0A2R9B3J2 60S ribosomal protein L22-like 1 protein-coding ENSPPAG00000035219 3 176065204 176069274 - 11670143 KCND3 potassium voltage-gated channel subfamily D member 3 ENCODES a protein that exhibits A-type (transient outward) potassium channel activity (ortholog); monoatomic ion channel activity (ortholog); potassium channel activity (ortholog); INVOLVED IN cardiac muscle cell action potential involved in contraction (ortholog); cell communication involved in cardiac conduction (ortholog); cellular response to BMP stimulus (ortholog); PARTICIPATES IN acebutolol pharmacodynamics pathway; adrenergic beta receptor agonist and beta-blocker pharmacodynamics pathway; amiodarone pharmacodynamics pathway; ASSOCIATED WITH atrial fibrillation (ortholog); Brugada syndrome (ortholog); Brugada syndrome 9 (ortholog); FOUND IN caveola (ortholog); dendrite (ortholog); GABA-ergic synapse (ortholog) 1 1 1 114185438 114404074 + 125702654 125910075 + 114433203 114651894 - 22301074;30032202 100982494 A0A2R9BX19;A0A2R9BX23 MODEL JARIFH010000001;XM_034933602;XM_034933603;XM_034933605;XM_034933609;XM_034933613;XM_034933615 XP_034789493;XP_034789494;XP_034789506 A0A2R9BX19 potassium voltage-gated channel, Shal-related subfamily, member 3 protein-coding ENSPPAG00000039961 1 125696907 125909814 + 11670160 GFOD1 Gfo/Idh/MocA-like oxidoreductase domain containing 1 ENCODES a protein that exhibits nucleotide binding (inferred); oxidoreductase activity (inferred); ASSOCIATED WITH coronary artery disease (ortholog); genetic disease (ortholog) 6 6 6 24002319 24130958 - 13581106 13704047 - 13203295 13332651 - 22301074 100983123 A0A2R9A645;A0A2R9ABE3 MODEL JARIFH010000007;XM_003823155;XM_008976756;XM_034961465 XP_003823203;XP_008975004 A0A2R9ABE3 glucose-fructose oxidoreductase domain containing 1;glucose-fructose oxidoreductase domain-containing protein 1 APPROVED protein-coding ENSPPAG00000029566 6 13582487 13704047 - 11670174 NDP norrin cystine knot growth factor NDP ENCODES a protein that exhibits cytokine activity (inferred); frizzled binding (inferred); protein homodimerization activity (inferred); INVOLVED IN action potential (ortholog); angiogenesis (ortholog); blood vessel remodeling (ortholog); PARTICIPATES IN Wnt signaling, canonical pathway; ASSOCIATED WITH autistic disorder (ortholog); Brunner syndrome (ortholog); Coats disease (ortholog); FOUND IN cell surface (inferred); collagen-containing extracellular matrix (inferred); extracellular region (inferred) X X X 45602261 45627401 - 44224161 44249067 - 36399868 36424953 - 22301074;30032202 100984154 A0A2R9A195 MODEL JARIFH010000024;XM_003808372 XP_003808420 A0A2R9A195 NDP, norrin cystine knot growth factor;norrin APPROVED protein-coding ENSPPAG00000028724 X 44224161 44249067 - 11670181 SNCA synuclein alpha ENCODES a protein that exhibits beta-tubulin binding (ortholog); copper ion binding (ortholog); enzyme binding (ortholog); INVOLVED IN adult locomotory behavior (ortholog); amyloid fibril formation (ortholog); behavioral response to cocaine (ortholog); PARTICIPATES IN apoptotic cell death pathway; Parkinson's disease pathway; ASSOCIATED WITH alcohol use disorder (ortholog); Alzheimer's disease (ortholog); amphetamine abuse (ortholog); FOUND IN axon terminus (ortholog); cytoplasmic vesicle membrane (ortholog); cytosol (ortholog) 4 4 4 87997402 88109710 - 92737608 92851720 - 82018585 82132938 - 15028296;22301074;30032202 100984304 A0A2R8ZRD1;A0A2R8ZUB9;P61144 MODEL AH013259;JARIFH010000005;XM_003829888;XM_003829889;XM_003829890;XM_008955294;XM_034958917;XM_034958919;XM_034958920;XM_034958921;XM_057302106 AAQ85068;P61144;XP_003829936;XP_003829937;XP_003829938;XP_008953542;XP_057158089 P61144 alpha-synuclein protein-coding ENSPPAG00000025110 4 92737608 92850600 - 11670202 ADAD1 adenosine deaminase domain containing 1 ENCODES a protein that exhibits adenosine deaminase activity (inferred); RNA binding (inferred); INVOLVED IN regulation of translation (ortholog); spermatid development (ortholog); ASSOCIATED WITH genetic disease (ortholog); neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities (ortholog); Neurodevelopmental Disorders (ortholog); FOUND IN male germ cell nucleus (inferred) 4 4 4 120439617 120490685 + 125710316 125760980 + 114574953 114625948 + 22301074;30032202 100985093 A0A2R9A200;A0A2R9A6J1 MODEL JARIFH010000005;XM_008969474;XM_008969475;XM_008969476;XM_055111804;XM_055111805;XM_055111807 XP_008967722;XP_008967723;XP_008967724;XP_054967779;XP_054967780;XP_054967782 A0A2R9A200 adenosine deaminase domain-containing protein 1 protein-coding ENSPPAG00000028860 4 125710502 125760980 + 11670228 CD163L1 CD163 molecule like 1 ASSOCIATED WITH COVID-19 (ortholog); developmental and epileptic encephalopathy 21 (ortholog); genetic disease (ortholog); FOUND IN membrane (inferred) 12 12 12 12928711 13015984 - 7664048 7747727 - 7497261 7590057 - 22301074 100986635 A0A2R9CGB7;A0A2R9CGF1;A0A2R9CJ01 MODEL JARIFH010000013;XM_034935270;XM_055095339 XP_054951314 A0A2R9CJ01 scavenger receptor cysteine-rich type 1 protein M160 protein-coding ENSPPAG00000043132 12 7656113 7749646 - 11670251 CRISP2 cysteine rich secretory protein 2 INVOLVED IN cell-cell adhesion (ortholog); ASSOCIATED WITH genetic disease (ortholog); megacolon (ortholog); FOUND IN extracellular region (inferred) 6 6 6 60041095 60063570 - 50523471 50544646 - 49262081 49284164 - 22301074;24644026;30032202 100986879 A0A075IM97;A0A2R8ZEU2;A0A2R8ZLC4 MODEL JARIFH010000007;KJ847067;XM_003833176;XM_003833177;XM_003833178;XM_003833179;XM_008958663;XM_008958664;XM_008958665;XM_008958666 AIF29534;XP_003833224;XP_003833225;XP_003833226;XP_003833227;XP_008956911;XP_008956912 A0A2R8ZEU2 cysteine-rich secretory protein 2 protein-coding ENSPPAG00000014874 6 50514123 50544622 - 11670287 BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ENCODES a protein that exhibits small GTPase binding (ortholog); INVOLVED IN actin cytoskeleton organization (ortholog); cell motility (ortholog); fibroblast proliferation (ortholog); PARTICIPATES IN platelet-derived growth factor signaling pathway; ASSOCIATED WITH Atrioventricular Septal Defect 2 (ortholog); Candidiasis, Familial, 9 (ortholog); familial erythrocytosis 2 (ortholog); FOUND IN cytoplasm (inferred); cytoskeleton (inferred); lamellipodium (inferred) 3 3 3 10114092 10126422 + 10403896 10415545 + 10051054 10062364 + 30032202 100987403 A0A2R8Z8Q5 MODEL JARIFH010000004;XM_003826292 XP_003826340 A0A2R8Z8Q5 BRICK1, SCAR/WAVE actin nucleating complex subunit APPROVED protein-coding ENSPPAG00000005602 3 10403896 10415545 + 11670294 GP5 glycoprotein V platelet ENCODES a protein that exhibits collagen binding (ortholog); INVOLVED IN blood coagulation (ortholog); cell-matrix adhesion (ortholog); megakaryocyte development (ortholog); PARTICIPATES IN platelet aggregation pathway; ASSOCIATED WITH genetic disease (ortholog); FOUND IN cell surface (ortholog); glycoprotein Ib-IX-V complex (ortholog) 3 3 3 192324054 192327782 - 202007943 202010005 - 191691432 191696906 - 22301074;30032202 100987605 A0A2R9BLZ7 MODEL JARIFH010000004;XM_034957916;XM_055110995 XP_054966970 A0A2R9BLZ7 platelet glycoprotein V protein-coding ENSPPAG00000036894 3 202008334 202010005 - 11670298 TMOD2 tropomodulin 2 ENCODES a protein that exhibits actin binding (ortholog); tropomyosin binding (ortholog); INVOLVED IN learning or memory (ortholog); neuron-neuron synaptic transmission (ortholog); positive regulation of G protein-coupled receptor signaling pathway (ortholog); ASSOCIATED WITH Bloom syndrome (ortholog); colorectal cancer (ortholog); developmental and epileptic encephalopathy 13 (ortholog); FOUND IN growth cone (ortholog) 15 15 15 45166348 45233756 + 49035929 49087467 + 30690641 30757960 + 22301074;30032202 100987744 A0A2R9ADG6;A0A2R9ADJ1 MODEL JARIFH010000016;XM_034938754;XM_034938755;XM_034938756 XP_034794645;XP_034794646;XP_034794647 A0A2R9ADJ1 tropomodulin-2 protein-coding ENSPPAG00000030814 15 49035929 49079570 + 11670311 VEGFC vascular endothelial growth factor C ENCODES a protein that exhibits vascular endothelial growth factor receptor 3 binding (ortholog); INVOLVED IN angiogenesis (ortholog); animal organ morphogenesis (ortholog); cell population proliferation (ortholog); PARTICIPATES IN vascular endothelial growth factor signaling pathway; ASSOCIATED WITH angiosarcoma (ortholog); atherosclerosis (ortholog); breast carcinoma (ortholog); FOUND IN extracellular region (inferred); extracellular space (inferred); membrane (inferred) 4 4 4 174784868 174914832 - 181104737 181236024 - 168870941 168999160 - 22301074;30032202 100990660 A0A2R9CHL8 MODEL JARIFH010000005;XM_003823438 XP_003823486 A0A2R9CHL8 protein-coding ENSPPAG00000043349 4 181104737 181236030 - 11670322 IZUMO1 izumo sperm-oocyte fusion 1 ENCODES a protein that exhibits identical protein binding (ortholog); protein binding involved in heterotypic cell-cell adhesion (ortholog); protein homodimerization activity (ortholog); INVOLVED IN heterotypic cell-cell adhesion (ortholog); single fertilization (ortholog); ASSOCIATED WITH genetic disease (ortholog); FOUND IN acrosomal membrane (ortholog); acrosomal vesicle (ortholog); endoplasmic reticulum membrane (ortholog) 19 19 19 56770395 56776681 - 54330542 54337974 - 45740372 45747177 - 30032202 100990707 A0A075IPD8;A0A2R9A1Y2 MODEL JARIFH010000020;KJ847085;XM_003814076;XM_008966696;XM_034946827;XM_034946828;XM_034946829;XM_034946831;XM_034946832 AIF29565;XP_003814124;XP_034802718;XP_034802719 A0A2R9A1Y2 izumo sperm-egg fusion 1;izumo sperm-egg fusion protein;izumo sperm-egg fusion protein 1 APPROVED protein-coding ENSPPAG00000028632 19 54330545 54337533 - 11670352 IL1RAP interleukin 1 receptor accessory protein ENCODES a protein that exhibits coreceptor activity (ortholog); interleukin-1 receptor binding (ortholog); protein tyrosine kinase binding (ortholog); INVOLVED IN cytokine-mediated signaling pathway (ortholog); interleukin-1-mediated signaling pathway (ortholog); PARTICIPATES IN interleukin-1 signaling pathway; ASSOCIATED WITH Disease Progression (ortholog); genetic disease (ortholog); head and neck squamous cell carcinoma (ortholog); FOUND IN glutamatergic synapse (ortholog); protein-containing complex (ortholog); synapse (ortholog) 3 3 3 188386524 188533980 + 196089340 196232236 + 187535880 187680628 + 22301074;30032202 100990776 A0A2R8ZAI6;A0A2R8ZEL5 MODEL JARIFH010000004;XM_003824970;XM_008978661;XM_034957893;XM_034957894;XM_034957895;XM_034957896;XM_034957897;XM_034957898;XM_057301975 XP_008976909;XP_034813784;XP_034813786;XP_057157958 A0A2R8ZEL5 protein-coding ENSPPAG00000008766 3 196089208 196231379 + 11670375 LOC100990903 ubiquitin-like protein ATG12 17 17 17 93908631 93909931 - 72452346 72452804 - 66994811 66995696 - 22301074;30032202 100990903 MODEL JARIFH010000018;XM_034942804 XP_034798695 protein-coding 11670381 TMEM249 transmembrane protein 249 ASSOCIATED WITH Brown-Vialetto-Van Laere syndrome 2 (ortholog); Epidermolysis Bullosa Simplex 5D with Nail Dystrophy (ortholog); epidermolysis bullosa simplex with muscular dystrophy (ortholog); FOUND IN CatSper complex (inferred); membrane (inferred); sperm principal piece (inferred) 8 8 8 137369303 137372369 - 144106167 144108545 - 141115959 141119290 - 100993715 A0A2R8ZZ30 MODEL JARIFH010000009;XM_003819427;XR_004673144 XP_003819475 A0A2R8ZZ30 cation channel sperm-associated auxiliary subunit TMEM249 protein-coding ENSPPAG00000027718 8 144106167 144108616 - 11670391 C15H15orf61 chromosome 15 C15orf61 homolog ASSOCIATED WITH Bloom syndrome (ortholog); colorectal cancer (ortholog); genetic disease (ortholog) 15 15 15 60949533 60955030 + 64740039 64746144 + 46471604 46477100 + 100994230 A0A2R8ZRT7 MODEL JARIFH010000016;XM_003828007;XR_004666570 XP_003828055 A0A2R8ZRT7 chromosome 15 open reading frame, human C15orf61;uncharacterized protein C15orf61 homolog APPROVED protein-coding ENSPPAG00000026999 15 64740039 64746144 + 11670412 LCNL1 lipocalin like 1 ENCODES a protein that exhibits small molecule binding (inferred); ASSOCIATED WITH Adams-Oliver Syndrome 5 (ortholog); autosomal dominant intellectual developmental disorder 8 (ortholog); autosomal dominant nocturnal frontal lobe epilepsy 5 (ortholog) 9 9 9 2415992 2417733 - 137012430 137014611 + 108043835 108045585 + 30032202 103785840 A0A2R9AKP6 MODEL JARIFH010000010;XM_008970103 XP_008968351 A0A2R9AKP6 protein-coding ENSPPAG00000030939 9 137012430 137013864 + 11670433 LOC106634162 uncharacterized LOC106634162 20 20 20 22455995 22503756 + 21488466 21530062 + 21527818 21576450 + 106634162 MODEL JARIFH010000021;XR_001337530;XR_004668136;XR_004668137 ncrna 11670438 LOC106634969 proline-rich protein 13-like 7 7 7 128825338 128828084 - 64934051 64938866 + 60879643 60880950 + 30032202 106634969 MODEL JARIFH010000008;XM_034965432 XP_034821323 proline-rich protein 13 pseudogene APPROVED protein-coding 11670439 TMEM171 transmembrane protein 171 ASSOCIATED WITH genetic disease (ortholog); Neurodevelopmental Disorders (ortholog); FOUND IN membrane (inferred) 5 5 5 40337014 40348485 - 42781305 42789684 - 42181966 42193088 - 100969697 A0A2R9AJ32 MODEL JARIFH010000006;XM_034959960;XM_034959961 XP_034815851;XP_034815852 A0A2R9AJ32 protein-coding ENSPPAG00000031784 5 42781305 42789684 - 11670449 SMAD5 SMAD family member 5 ENCODES a protein that exhibits DEAD/H-box RNA helicase binding (inferred); DNA-binding transcription repressor activity, RNA polymerase II-specific (inferred); metal ion binding (inferred); INVOLVED IN BMP signaling pathway (ortholog); bone development (ortholog); cardiac muscle contraction (ortholog); PARTICIPATES IN Bone morphogenetic proteins signaling pathway; ASSOCIATED WITH Cocaine-Related Disorders (ortholog); familial adenomatous polyposis 1 (ortholog); genetic disease (ortholog); FOUND IN cytoplasm (inferred); cytosol (inferred); nucleoplasm (inferred) 5 5 5 129559444 129609397 + 137663558 137713130 + 131524229 131574119 + 22301074;30032202 100969842 A0A2R9BFQ2;A0A2R9BPB5 MODEL JARIFH010000006;XM_003829249;XM_003829250;XM_014345117;XM_014345119;XM_055112712;XM_055112713;XM_055112714 XP_003829297;XP_003829298;XP_014200605;XP_054968687;XP_054968688;XP_054968689 A0A2R9BFQ2 mothers against decapentaplegic homolog 5 protein-coding ENSPPAG00000037276 5 137664067 137712635 + 11670475 EGFLAM EGF like, fibronectin type III and laminin G domains ENCODES a protein that exhibits calcium ion binding (inferred); glycosaminoglycan binding (inferred); INVOLVED IN extracellular matrix organization (ortholog); positive regulation of cell-substrate adhesion (ortholog); ASSOCIATED WITH genetic disease (ortholog); High Myopia (ortholog); Neurodevelopmental Disorders (ortholog); FOUND IN cell surface (ortholog); photoreceptor ribbon synapse (ortholog) 5 5 5 70027330 70237797 - 76944890 77155714 - 71909106 72119958 - 22301074 100970173 A0A2R9AZ08;A0A2R9B2S1;A0A2R9B4T9 MODEL JARIFH010000006;XM_003810957;XM_008963325;XM_034960152 XP_003811005;XP_008961573;XP_034816043 A0A2R9B2S1 pikachurin protein-coding ENSPPAG00000034407 5 76944818 77073380 - 11670507 TTC6 tetratricopeptide repeat domain 6 ASSOCIATED WITH Brain-Lung-Thyroid Syndrome (ortholog); Meckel syndrome (ortholog) 14 14 14 38147967 38381440 + 36714244 36962083 + 18363956 18601589 + 22301074 100971109 A0A2R9BI63;A0A2R9BI68;A0A2R9BI80;A0A2R9BLS6 MODEL JARIFH010000015;XM_034937473;XM_034937474;XM_055097529 XP_054953504 A0A2R9BI63 tetratricopeptide repeat protein 6 protein-coding ENSPPAG00000037589 14 36740892 36962078 + 11670544 LOC100972347 protein RCC2-like 7 7 7 26942512 26947905 + 142568801 142573577 + 130077384 130082220 + 100972347 MODEL JARIFH010000008 APPROVED pseudo 11670558 RAP2B RAP2B, member of RAS oncogene family ENCODES a protein that exhibits G protein activity (inferred); GDP binding (inferred); GTP binding (inferred); INVOLVED IN establishment of endothelial intestinal barrier (ortholog); microvillus assembly (ortholog); negative regulation of cell migration (ortholog); ASSOCIATED WITH genetic disease (ortholog); FOUND IN bicellular tight junction (inferred); bounding membrane of organelle (inferred); cell-cell contact zone (inferred) 3 3 3 151060882 151070886 + 157754307 157760249 + 150188107 150193060 + 22301074;30032202 100975056 A0A2R8ZU86 MODEL JARIFH010000004;XM_003826449 XP_003826497 A0A2R8ZU86 ras-related protein Rap-2b protein-coding ENSPPAG00000026674 3 157754470 157755021 + 11670563 PARP8 poly(ADP-ribose) polymerase family member 8 ENCODES a protein that exhibits glycosyltransferase activity (inferred); NAD+ ADP-ribosyltransferase activity (inferred); NAD+-protein ADP-ribosyltransferase activity (inferred); INVOLVED IN protein auto-ADP-ribosylation (ortholog); PARTICIPATES IN ADP-ribosylation pathway, mono and poly-ribosylation; ASSOCIATED WITH genetic disease (ortholog); Neurodevelopmental Disorders (ortholog) 5 5 5 61240253 61428422 - 64789584 64975287 - 63175182 63363346 - 22301074;30032202 100975286 A0A2R9A9J6;A0A2R9A9N0;A0A2R9A9N2;A0A2R9A9Q5;A0A2R9A9S5;A0A2R9AAS1;A0A2R9AEM7;A0A2R9AF07;A0A2R9AF52;A0A2R9AF61 MODEL JARIFH010000006;XM_003827346;XM_008952720;XM_014344903;XM_034960113;XM_034960114;XM_055112393;XM_055112394;XM_057302302 XP_008950968;XP_014200389;XP_034816005;XP_054968368;XP_054968369;XP_057158285 A0A2R9AF07 poly [ADP-ribose] polymerase 8 protein-coding ENSPPAG00000030012 5 64789584 64975283 - 11670606 ZFR2 zinc finger RNA binding protein 2 ENCODES a protein that exhibits nucleic acid binding (inferred); zinc ion binding (inferred); ASSOCIATED WITH amenorrhea (ortholog); genetic disease (ortholog); obesity (ortholog) 19 19 19 7431242 7497818 - 3777494 3842458 - 2827501 2894084 - 22301074;30032202 100976006 A0A2R9AHR2;A0A2R9AMG7;A0A2R9APU4 MODEL JARIFH010000020;XM_034946723;XM_034946724;XM_034946725;XM_034946726;XM_034946727;XM_034946728;XM_034946729;XM_034946730;XM_034946731;XM_034946732;XM_034946734;XM_055103726;XM_055103728;XR_004668075;XR_004668076;XR_008622104;XR_008622105 XP_034802614;XP_034802615;XP_034802616;XP_034802617;XP_034802618;XP_034802619;XP_034802620;XP_034802621;XP_034802622;XP_034802623;XP_034802625;XP_054959701;XP_054959703 A0A2R9AHR2 LOC117977110 uncharacterized LOC117977110;zinc finger RNA-binding protein 2 PROVISIONAL protein-coding ENSPPAG00000031541 19 3777714 3842444 - 11670630 LOC100976037 40S ribosomal protein S15a-like 1 1 1 109391658 109392301 + 120377090 120377407 - 85381869 85382512 - 22301074;30032202 100976037 MODEL JARIFH010000001;XM_034929790 XP_034785681 40S ribosomal protein S15a pseudogene APPROVED protein-coding 11670631 STK10 serine/threonine kinase 10 ENCODES a protein that exhibits ATP binding (inferred); identical protein binding (inferred); nucleotide binding (inferred); INVOLVED IN lymphocyte aggregation (inferred); regulation of lymphocyte migration (inferred); ASSOCIATED WITH Experimental Liver Cirrhosis (ortholog); genetic disease (ortholog); FOUND IN plasma membrane (inferred) 5 5 5 165324071 165467219 - 174311171 174455082 - 167396133 167539286 - 22301074 100976880 A0A2R8ZGP9 MODEL JARIFH010000006;XM_003813989;XM_055112872 XP_003814037;XP_054968847 A0A2R8ZGP9 serine/threonine-protein kinase 10 protein-coding ENSPPAG00000017062 5 174311171 174455082 - 11670654 SRRM4 serine/arginine repetitive matrix 4 ENCODES a protein that exhibits identical protein binding (inferred); mRNA binding (inferred); INVOLVED IN regulation of alternative mRNA splicing, via spliceosome (ortholog); sensory perception of sound (ortholog); PARTICIPATES IN spliceosome pathway; ASSOCIATED WITH genetic disease (ortholog); Hearing Disorders (ortholog); vestibular disease (ortholog); FOUND IN nucleus (inferred) 12 12 12 127043512 127225241 + 119939573 120117175 + 116561412 116743153 + 30032202 100976905 A0A2R9A1N9 MODEL JARIFH010000013;XM_014347332 XP_014202818 A0A2R9A1N9 serine/arginine repetitive matrix protein 4 protein-coding ENSPPAG00000028134 12 120060023 120117181 + 11670671 TFAP2E transcription factor AP-2 epsilon ENCODES a protein that exhibits DNA binding (inferred); DNA-binding transcription activator activity, RNA polymerase II-specific (inferred); DNA-binding transcription factor activity (inferred); INVOLVED IN positive regulation of transcription by RNA polymerase II (ortholog); ASSOCIATED WITH Charcot-Marie-Tooth disease dominant intermediate C (ortholog); genetic disease (ortholog); FOUND IN nucleus (inferred) 1 1 1 190370594 190399152 - 36010973 36040912 + 34838962 34863268 + 30032202 100977209 A0A2R9BVH9;A0A2R9C4M8 MODEL JARIFH010000001;XM_034961185;XM_034961191 XP_034817076;XP_034817082 A0A2R9C4M8 transcription factor AP-2-epsilon protein-coding ENSPPAG00000039587 1 36018681 36040059 + 11670686 FAM227A family with sequence similarity 227 member A ASSOCIATED WITH adenylosuccinase lyase deficiency (ortholog); Emery-Dreifuss muscular dystrophy (ortholog); genetic disease (ortholog) 22 22 22 51125331 51203654 - 37320378 37389608 - 19500521 19571585 - 100977931 A0A2R8ZPQ0 MODEL JARIFH010000023;XM_034949048;XM_055105718 XP_034804939;XP_054961693 A0A2R8ZPQ0 protein-coding ENSPPAG00000025902 22 37317585 37383992 - 11670707 LOC100978683 40S ribosomal protein S25-like FOUND IN ribonucleoprotein complex (inferred); ribosome (inferred) 19 19 19 43214861 43215541 - 40902928 40903428 - 32165346 32165908 - 30032202 100978683 A0A2R8ZH83 MODEL JARIFH010000020;XM_034944636 XP_034800527 A0A2R8ZH83 40S ribosomal protein S25 pseudogene APPROVED protein-coding ENSPPAG00000009190 11670710 LOC100979108 protocadherin gamma-C3 ENCODES a protein that exhibits calcium ion binding (inferred); INVOLVED IN cell adhesion (inferred); homophilic cell adhesion via plasma membrane adhesion molecules (inferred); nervous system development (inferred); FOUND IN growth cone (inferred); membrane (inferred); plasma membrane (inferred) 5 5 5 134710551 134901884 + 142819308 142987294 + 136687956 136874354 + 22301074 100979108 A0A2R8ZB51;A0A2R8ZB61;A0A2R8ZB67;A0A2R8ZB71;A0A2R8ZBA4;A0A2R8ZBU7;A0A2R8ZF49;A0A2R8ZF55;A0A2R8ZHU6;A0A2R8ZHW1;A0A2R9B0D9;A0A2R9BUW9;A0A2R9C9T6;A0A2R9CA22;A0A2R9CB52 MODEL JARIFH010000006;XM_014345015;XM_014345017;XM_014345018;XM_014345019;XM_014345020;XM_014345021;XM_014345022;XM_014345023;XM_014345024;XM_014345025;XM_014345026;XM_014345027;XM_014345028;XM_014345029;XM_014345030;XM_014345032;XM_034960651;XM_034960653;XM_034960654;XM_034960655;XM_034960656;XM_034960658;XM_034960659;XM_034960660;XM_034960662;XM_034960663;XM_055112727 XP_014200501;XP_014200503;XP_014200504;XP_014200505;XP_014200506;XP_014200507;XP_014200508;XP_014200509;XP_014200510;XP_014200511;XP_014200512;XP_014200513;XP_014200514;XP_014200515;XP_014200516;XP_034816542;XP_034816544;XP_034816545;XP_034816546;XP_034816547;XP_034816549;XP_034816550;XP_034816553;XP_054968702 A0A2R8ZF55;A0A2R9B0D9;A0A2R9BUW9;A0A2R9CA22 LOC100985856;PCDHGA10;PCDHGA2;PCDHGA3;PCDHGA4;PCDHGA5;PCDHGA7;PCDHGB2;PCDHGB3 protocadherin gamma subfamily A, 10;protocadherin gamma subfamily A, 2;protocadherin gamma subfamily A, 3;protocadherin gamma subfamily A, 4;protocadherin gamma subfamily A, 5;protocadherin gamma subfamily A, 7;protocadherin gamma subfamily B, 2;protocadherin gamma subfamily B, 3;protocadherin gamma-A1;protocadherin gamma-A10;protocadherin gamma-A11;protocadherin gamma-A12;protocadherin gamma-A2;protocadherin gamma-A3;protocadherin gamma-A4;protocadherin gamma-A5;protocadherin gamma-A6;protocadherin gamma-A7;protocadherin gamma-A8;protocadherin gamma-A9;protocadherin gamma-B1;protocadherin gamma-B2;protocadherin gamma-B3;protocadherin gamma-B4;protocadherin gamma-B5;protocadherin gamma-B6;protocadherin gamma-B7;protocadherin gamma-C4;protocadherin gamma-C5 APPROVED protein-coding ENSPPAG00000010108;ENSPPAG00000034021;ENSPPAG00000039602;ENSPPAG00000042065;ENSPPAG00000042272 5 142806144 142987292 + 11670772 NFYB nuclear transcription factor Y subunit beta ENCODES a protein that exhibits protein-containing complex binding (ortholog); RNA polymerase II cis-regulatory region sequence-specific DNA binding (ortholog); transcription cis-regulatory region binding (ortholog); INVOLVED IN cellular response to leukemia inhibitory factor (ortholog); positive regulation of DNA-templated transcription (ortholog); PARTICIPATES IN altered p53 signaling pathway; ASSOCIATED WITH genetic disease (ortholog); FOUND IN CCAAT-binding factor complex (ortholog) 12 12 12 112176320 112196849 - 105089028 105108825 - 101693559 101714057 - 22301074;30032202 100979136 A0A2R9C725;A0A2R9C9I2 MODEL JARIFH010000013;XM_003832563;XM_008958001;XM_034934363;XM_034934364;XM_034934365;XM_034934366;XM_034934367 XP_003832611;XP_008956249;XP_034790257;XP_034790258 A0A2R9C9I2 protein-coding ENSPPAG00000041525 12 105089028 105108825 - 11670786 DBNL drebrin like ENCODES a protein that exhibits actin filament binding (ortholog); protein domain specific binding (ortholog); structural constituent of postsynaptic actin cytoskeleton (ortholog); INVOLVED IN actin filament bundle assembly (ortholog); actin filament severing (ortholog); barbed-end actin filament capping (ortholog); ASSOCIATED WITH Dimauro Disease (ortholog); genetic disease (ortholog); pleomorphic xanthoastrocytoma (ortholog); FOUND IN dendrite (ortholog); glutamatergic synapse (ortholog); postsynapse (ortholog) 7 7 7 97276140 97297574 + 44824537 44842059 + 44753062 44775717 + 30032202 100981894 A0A2R9AJE6;A0A2R9AJH7;A0A2R9AJL5;A0A2R9AKE0;A0A2R9APC4 MODEL JARIFH010000008;XM_008969089;XM_034964000;XM_034964001;XM_034964002;XM_034964003;XM_034964004;XM_034964005;XM_034964006;XM_034964007;XM_034964008 XP_008967337;XP_034819892;XP_034819893;XP_034819896;XP_034819897;XP_034819898 A0A2R9AJE6 drebrin-like protein-like protein-coding ENSPPAG00000031811 7 44824608 44845891 + 11670818 RNF19B ring finger protein 19B ENCODES a protein that exhibits metal ion binding (inferred); transferase activity (inferred); ubiquitin binding (inferred); INVOLVED IN natural killer cell mediated cytotoxicity (ortholog); ASSOCIATED WITH Charcot-Marie-Tooth disease dominant intermediate C (ortholog); COVID-19 (ortholog); genetic disease (ortholog); FOUND IN cytolytic granule (inferred); cytosol (inferred); endoplasmic reticulum (inferred) 1 1 1 192978283 193006811 + 33414247 33441955 - 32228220 32256745 - 22301074;30032202 100983613 A0A2R9BH55;A0A2R9BI45;A0A2R9BI50 MODEL JARIFH010000001;XM_003812538;XM_008964983;XM_034960619 XP_003812586;XP_008963231;XP_034816510 A0A2R9BH55 E3 ubiquitin-protein ligase RNF19B protein-coding ENSPPAG00000037509 1 33414611 33441986 - 11670833 LOC100983794 olfactory receptor 51F2-like 11 11 11 7126934 7127833 + 4548302 4549201 + 4883165 4884064 + 22301074 100983794 MODEL JARIFH010000012;XM_008962377 XP_008960625 protein-coding 11670836 TDRKH tudor and KH domain containing ENCODES a protein that exhibits nucleic acid binding (inferred); RNA binding (inferred); INVOLVED IN fertilization (inferred); male meiotic nuclear division (inferred); piRNA processing (inferred); ASSOCIATED WITH azoospermia (ortholog); gastrointestinal stromal tumor (ortholog); genetic disease (ortholog); FOUND IN cytoplasm (inferred); membrane (inferred); mitochondrion (inferred) 1 1 1 97783329 97803137 + 130772891 130792942 - 127128857 127149197 - 22301074;30032202 100984444 A0A2R9A3Z8;A0A2R9A7E1;A0A2R9A864 MODEL JARIFH010000001;XM_003817234;XM_008970383;XM_014347322;XM_014347327;XM_034935523;XM_034935526;XM_055101186;XM_055101189;XM_055101195 XP_054957161;XP_054957164;XP_054957170 A0A2R9A7E1 protein-coding ENSPPAG00000028994 1 130774515 130792942 - 11670863 MEIS2 Meis homeobox 2 ENCODES a protein that exhibits DNA binding (inferred); DNA-binding transcription activator activity, RNA polymerase II-specific (inferred); RNA polymerase II cis-regulatory region sequence-specific DNA binding (inferred); INVOLVED IN eye development (ortholog); pancreas development (ortholog); response to growth factor (ortholog); ASSOCIATED WITH Bloom syndrome (ortholog); brain infarction (ortholog); Calcification of Aortic Valve (ortholog); FOUND IN nucleus (inferred) 15 15 15 30268369 30478883 - 34072665 34283411 - 15814739 16025512 - 30032202 100984781 A0A2R8ZQ82;A0A2R8ZW29;A0A2R8ZW34 MODEL JARIFH010000016;XM_003816705;XM_003816706;XM_003816707;XM_003816708;XM_003816709;XM_003816711;XM_008969808;XM_008969809;XM_008969810;XM_008969811;XM_034938502 XP_003816753;XP_003816754;XP_003816755;XP_003816756;XP_008968056;XP_008968057;XP_008968058;XP_008968059;XP_034794393 A0A2R8ZQ82 homeobox protein Meis2 protein-coding ENSPPAG00000026165 15 34072665 34282477 - 11670903 SPATA32 spermatogenesis associated 32 ENCODES a protein that exhibits actin binding (ortholog); INVOLVED IN spermatogenesis (ortholog); ASSOCIATED WITH genetic disease (ortholog); FOUND IN perinuclear region of cytoplasm (ortholog) 17 17 17 21544586 21552481 + 12238067 12245783 + 12065924 12073644 + 22301074;30032202 100985259 A0A2R9B9M8 MODEL JARIFH010000018;XM_003806536;XM_008954864 XP_003806584 A0A2R9B9M8 TEX34 spermatogenesis-associated protein 32;testis expressed 34 protein-coding ENSPPAG00000036262 17 12238067 12245783 + 11670916 ERGIC3 ERGIC and golgi 3 ENCODES a protein that exhibits protein self-association (inferred); INVOLVED IN endoplasmic reticulum to Golgi vesicle-mediated transport (inferred); intracellular transport (inferred); positive regulation of intracellular protein transport (inferred); ASSOCIATED WITH Experimental Neoplasms (ortholog); genetic disease (ortholog); lung adenocarcinoma (ortholog); FOUND IN retrograde transporter complex, Golgi to ER (ortholog); transporter complex (ortholog) 20 20 20 41265670 41281370 + 32986131 33001737 + 31867571 31883181 + 30032202 100986212 A0A2R9BEJ5;A0A2R9BEL0;A0A2R9BIH3;A0A2R9BN15 MODEL JARIFH010000021;XM_003831856;XM_003831857 XP_003831904;XP_003831905 A0A2R9BEJ5 endoplasmic reticulum-Golgi intermediate compartment protein 3 protein-coding ENSPPAG00000037078 20 32986131 33001737 + 11670937 PDIA3 protein disulfide isomerase family A member 3 ENCODES a protein that exhibits MHC class I protein binding (ortholog); peptidase activity (ortholog); protein-disulfide reductase (glutathione) activity (ortholog); INVOLVED IN cellular response to interleukin-7 (ortholog); cellular response to nonylphenol (ortholog); cellular response to transforming growth factor beta stimulus (ortholog); ASSOCIATED WITH Acute Coronary Syndrome (ortholog); asphyxia neonatorum (ortholog); autoimmune hepatitis (ortholog); FOUND IN acrosomal vesicle (ortholog); apical plasma membrane (ortholog); cell surface (ortholog) 15 15 15 37158999 37185059 + 40794144 40821615 + 22706520 22731672 + 22301074;30032202 100986868 A0A2R9AF20;A0A2R9AJW4;A0A2R9BPX1 MODEL JARIFH010000016;XM_003814950 XP_003814998 A0A2R9AJW4;A0A2R9BPX1 protein-coding ENSPPAG00000031073;ENSPPAG00000038660 15 40794144 40821763 + 11670954 ATP2A3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 ENCODES a protein that exhibits calcium ion binding (ortholog); INVOLVED IN endoplasmic reticulum calcium ion homeostasis (ortholog); liver regeneration (ortholog); PARTICIPATES IN calcium transport pathway; calcium/calcium-mediated signaling pathway; ASSOCIATED WITH adenoma (ortholog); Experimental Diabetes Mellitus (ortholog); genetic disease (ortholog); FOUND IN endoplasmic reticulum (inferred); endoplasmic reticulum membrane (inferred); membrane (inferred) 17 17 17 13498563 13539571 - 3964348 4023563 - 3992088 4013998 - 22301074;30032202 100987290 A0A2R9BSS9;A0A2R9BYB5 MODEL JARIFH010000018;XM_034941309;XM_055101087;XM_055101089;XM_055101090;XM_057300222 XP_054957062;XP_054957064;XP_054957065;XP_057156205 A0A2R9BSS9 sarcoplasmic/endoplasmic reticulum calcium ATPase 3 protein-coding ENSPPAG00000038640 17 3965925 3998382 - 11670986 DDIT4 DNA damage inducible transcript 4 ENCODES a protein that exhibits 14-3-3 protein binding (inferred); INVOLVED IN brain development (ortholog); cellular response to dexamethasone stimulus (ortholog); intracellular signal transduction (ortholog); PARTICIPATES IN mTOR signaling pathway; ASSOCIATED WITH COVID-19 (ortholog); genetic disease (ortholog); leukemia (ortholog); FOUND IN cytoplasm (inferred); cytosol (inferred); mitochondrion (inferred) 10 10 10 84429789 84431917 + 71264028 71266155 + 68796712 68798840 + 22301074;30032202 100988345 A0A2R8ZU89 MODEL JARIFH010000011;XM_003815972 XP_003816020 A0A2R8ZU89 protein-coding ENSPPAG00000026679 10 71264029 71266149 + 11670993 CSF2RB colony stimulating factor 2 receptor subunit beta ENCODES a protein that exhibits coreceptor activity (inferred); cytokine receptor activity (inferred); INVOLVED IN response to lipopolysaccharide (ortholog); PARTICIPATES IN granulocyte-macrophage colony-stimulating factor signaling pathway; interleukin-3 signaling pathway; interleukin-5 signaling pathway; ASSOCIATED WITH adenylosuccinase lyase deficiency (ortholog); asthma (ortholog); autosomal recessive chronic granulomatous disease 3 (ortholog); FOUND IN granulocyte macrophage colony-stimulating factor receptor complex (ortholog); plasma membrane (ortholog) 22 22 22 49462363 49489315 + 35666729 35693708 + 17831313 17858272 + 22301074;30032202 100988608 A0A2R9C191;A0A2R9C1C5;A0A2R9CBH8 MODEL JARIFH010000023;XM_003821538;XM_008975018;XM_057300993 XP_003821586;XP_008973266;XP_057156976 A0A2R9CBH8 colony stimulating factor 2 receptor beta common subunit;cytokine receptor common subunit beta APPROVED protein-coding ENSPPAG00000040624 22 35666734 35693701 + 11671015 LOC100989368 Kell metallo-endopeptidase (Kell blood group) ENCODES a protein that exhibits calcium channel activity (inferred); hydrolase activity (inferred); metal ion binding (inferred); INVOLVED IN establishment of localization in cell (ortholog); intracellular calcium ion homeostasis (ortholog); intracellular magnesium ion homeostasis (ortholog); ASSOCIATED WITH genetic disease (ortholog); Vein of Galen Aneurysm (ortholog); FOUND IN apical plasma membrane (inferred); calcium channel complex (inferred); cytosol (inferred) 7 7 7 31762687 31860321 - 147422965 147444255 - 134897567 135237214 - 22301074;30032202 100989368 A0A2R8ZGW8;A0A2R9AD42;A0A2R9AI24 MODEL JARIFH010000008;XM_003820556;XM_034965134 XP_034821025 A0A2R8ZGW8;A0A2R9AD42 KEL;TRPV5 Kell blood group, metallo-endopeptidase;kell blood group glycoprotein;transient receptor potential cation channel subfamily V member 5 APPROVED protein-coding ENSPPAG00000008525;ENSPPAG00000030741 7;7 147423103;147389844 147443895;147415404 -;- 11671043 GIGYF2 GRB10 interacting GYF protein 2 ENCODES a protein that exhibits molecular adaptor activity (inferred); proline-rich region binding (inferred); INVOLVED IN adult locomotory behavior (ortholog); feeding behavior (ortholog); homeostasis of number of cells within a tissue (ortholog); ASSOCIATED WITH fundus dystrophy (ortholog); genetic disease (ortholog); Joubert syndrome 22 (ortholog); FOUND IN cytoplasm (inferred); cytoplasmic stress granule (inferred); cytosol (inferred) 2B 2B 2B 135317797 135478361 + 238847672 239007549 + 119929004 120090367 + 22301074;30032202 100989566 A0A2R9BQF8;A0A2R9BQS1;A0A2R9BQW5;A0A2R9BR21;A0A2R9BTM6;A0A2R9BZJ4 MODEL JARIFH010000003;XM_003813135;XM_003813137;XM_008965730;XM_008965731;XM_008965735;XM_008965736;XM_034955368;XM_034955369;XM_055109216;XM_055109217;XM_055109218;XM_055109219;XM_055109220;XM_055109221;XM_055109222;XM_055109223;XM_055109224;XM_055109225;XM_055109226;XM_055109228;XM_055109229;XM_055109230;XM_055109231 XP_003813183;XP_003813185;XP_008963978;XP_008963979;XP_008963983;XP_008963984;XP_034811259;XP_034811260;XP_054965191;XP_054965192;XP_054965193;XP_054965194;XP_054965195;XP_054965196;XP_054965197;XP_054965198;XP_054965199;XP_054965200;XP_054965201;XP_054965203;XP_054965204;XP_054965205;XP_054965206 A0A2R9BQW5 GRB10-interacting GYF protein 2;PERQ amino acid-rich with GYF domain-containing protein 2 protein-coding ENSPPAG00000038793 2B 238847674 239007549 + 11671102 CYP26C1 cytochrome P450 family 26 subfamily C member 1 ENCODES a protein that exhibits retinoic acid 4-hydroxylase activity (ortholog); retinoic acid binding (ortholog); INVOLVED IN anterior/posterior pattern specification (ortholog); central nervous system development (ortholog); neural crest cell development (ortholog); PARTICIPATES IN retinoic acid metabolic pathway; ASSOCIATED WITH Focal Facial Dermal Dysplasia (ortholog); Focal Facial Dermal Dysplasia 4 (ortholog); genetic disease (ortholog) 10 10 10 105101325 105109953 + 93317798 93325315 + 89804830 89813687 + 100989646 XM_034931114 LOC100989646 cytochrome P450 26C1 APPROVED protein-coding ENSPPAG00000036382 10 93317798 93325315 + 11671112 LOC100989808 prohibitin 1-like 1 1 1 25462834 25469732 + 204490934 204491796 - 199478999 199480592 - 100989808 MODEL JARIFH010000001;XR_001337583 prohibitin pseudogene;prohibitin-like APPROVED pseudo 11671125 LOC100992397 high mobility group protein B3-like 4 4 4 92500180 92501051 - 97228647 97230426 - 86556071 86557857 - 100992397 MODEL JARIFH010000005 high mobility group protein B3 pseudogene APPROVED pseudo 11671126 PLXNA1 plexin A1 ENCODES a protein that exhibits semaphorin receptor activity (inferred); INVOLVED IN dichotomous subdivision of terminal units involved in salivary gland branching (ortholog); gonadotrophin-releasing hormone neuronal migration to the hypothalamus (ortholog); neuron projection extension (ortholog); ASSOCIATED WITH alkaptonuria (ortholog); DWORSCHAK-PUNETHA NEURODEVELOPMENTAL SYNDROME (ortholog); epilepsy (ortholog); FOUND IN cytosol (inferred); membrane (inferred); nucleoplasm (inferred) 3 3 3 124911421 124965696 + 131340943 131393561 + 124026069 124080241 + 22301074;30032202 100993808 A0A2R9CJ14;A0A2R9CJ22 MODEL JARIFH010000004;XM_034957294;XM_055110387 XP_034813185;XP_054966362 A0A2R9CJ22 plexin-A1 protein-coding ENSPPAG00000043571 3 131340584 131393561 + 11671162 LOC100994316 ras-related C3 botulinum toxin substrate 1-like 13 13 13 31915824 31917890 - 41087039 41110295 - 22497209 22501268 - 100994316 MODEL JARIFH010000014 ras-related C3 botulinum toxin substrate 1 pseudogene APPROVED pseudo 11671163 LOC100994460 60S ribosomal protein L22-like 2B 2B 2B 45707542 45707913 + 130610297 130610668 - 30325881 30326252 + 100994460 MODEL JARIFH010000003 60S ribosomal protein L22 pseudogene APPROVED pseudo 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain ENCODES a protein that exhibits peptide antigen binding (inferred); INVOLVED IN adaptive immune response (inferred); antigen processing and presentation (inferred); antigen processing and presentation of exogenous peptide antigen via MHC class II (inferred); ASSOCIATED WITH allergic asthma (ortholog); angioedema (ortholog); anti-basement membrane glomerulonephritis (ortholog); FOUND IN cell surface (inferred); endosome (inferred); endosome membrane (inferred) 6 6 6 43426026 43436864 + 33763566 33774387 + 32648780 32659613 + 22301074;30032202 100995226 A0A2R9CGS3 MODEL JARIFH010000007;U38879;U38880;U38881;U38882;U38883;U38884;XM_003808595 AAB49579;AAB49580;AAB49581;AAB49582;AAB49583;AAB49584;XP_003808643 A0A2R9CGS3 Papa-DPB1 DP beta 1 chain;DP beta chain 1 protein-coding ENSPPAG00000041449 6 33763566 33774387 + 11671174 ALMS1 ALMS1 centrosome and basal body associated protein ENCODES a protein that exhibits alpha-actinin binding (ortholog); INVOLVED IN apoptotic process (ortholog); calcium-mediated signaling (ortholog); cholesterol homeostasis (ortholog); ASSOCIATED WITH Alstrom syndrome (ortholog); Bardet-Biedl syndrome (ortholog); cone-rod dystrophy (ortholog); FOUND IN centriole (ortholog); ciliary basal body (ortholog) 2A 2A 2A 52765040 52997312 - 74926650 75158734 + 73438657 73671313 + 30032202 100996144 A0A2R9BGA6;A0A2R9BK08 MODEL JARIFH010000002;XM_003808202;XM_034953388;XM_034953389;XM_034953390;XM_034953391;XM_034953392;XM_034953394 XP_034809279 A0A2R9BGA6 Alstrom syndrome 1;Alstrom syndrome protein 1;centrosome-associated protein ALMS1 APPROVED protein-coding ENSPPAG00000037321 2A 74926650 75152139 + 11671200 THUMPD1 THUMP domain containing 1 ENCODES a protein that exhibits RNA binding (inferred); INVOLVED IN tRNA modification (inferred); ASSOCIATED WITH genetic disease (ortholog); NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES (ortholog); Neurodevelopmental Disorders (ortholog) 16 16 16 26419720 26430134 - 20764002 20774613 - 17666536 17677158 + 22301074;30032202 100996183 A0A2R9AV69;A0A2R9AZD2 MODEL JARIFH010000017;XM_014341695;XM_024925990;XM_024925991;XM_024925992 XP_024781758;XP_024781759;XP_024781760 A0A2R9AV69 THUMP domain-containing protein 1 protein-coding ENSPPAG00000033818 11671208 NUDT3 nudix hydrolase 3 ENCODES a protein that exhibits 5'-(N(7)-methyl 5'-triphosphoguanosine)-[mRNA] diphosphatase activity (inferred); 5'-(N(7)-methylguanosine 5'-triphospho)-[mRNA] hydrolase activity (inferred); diphosphoinositol-polyphosphate diphosphatase activity (inferred); INVOLVED IN diadenosine hexaphosphate catabolic process (inferred); diphosphoinositol polyphosphate catabolic process (inferred); RNA decapping (inferred); PARTICIPATES IN inositol phosphate metabolic pathway; ASSOCIATED WITH genetic disease (ortholog); JMP syndrome (ortholog); FOUND IN cytoplasm (inferred); cytosol (inferred); nucleus (inferred) 6 6 6 44622663 44735343 - 34959955 35062853 - 33849695 33961691 - 30032202 103782673 A0A2R9AF93 MODEL JARIFH010000007;XM_008960613 XP_008958861 A0A2R9AF93 diphosphoinositol polyphosphate phosphohydrolase 1 protein-coding ENSPPAG00000031106 6 34959955 35062853 - 11671217 SOHLH2 spermatogenesis and oogenesis specific basic helix-loop-helix 2 ENCODES a protein that exhibits DNA-binding transcription activator activity, RNA polymerase II-specific (ortholog); identical protein binding (ortholog); protein heterodimerization activity (ortholog); INVOLVED IN cell differentiation (ortholog); oocyte differentiation (ortholog); positive regulation of transcription by RNA polymerase II (ortholog); ASSOCIATED WITH genetic disease (ortholog); FOUND IN nucleus (inferred) 13 13 13 26798408 26849838 - 35811256 35857611 - 17379900 17426758 - 22301074;30032202 103783034 A0A2R8ZUD7 MODEL DQ977274;JARIFH010000014;XM_024925304 ABM54396;ABM54397;XP_024781072 A0A2R8ZUD7 LOC103783034;LOC103783035 spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2;spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2-like PROVISIONAL protein-coding ENSPPAG00000025183 13 35812074 35857528 - 11671233 PEX19 peroxisomal biogenesis factor 19 ENCODES a protein that exhibits ATPase binding (inferred); peroxisome membrane class-1 targeting sequence binding (inferred); protein carrier chaperone (inferred); INVOLVED IN peroxisome membrane biogenesis (ortholog); ASSOCIATED WITH autoimmune interstitial lung, joint, and kidney disease (ortholog); familial hemiplegic migraine (ortholog); gastrointestinal stromal tumor (ortholog); FOUND IN brush border membrane (ortholog); nucleus (ortholog) 1 1 1 89306840 89315224 + 139551681 139559957 - 135630788 135639126 - 22301074;30032202 103785020 A0A2R9BPY5;A0A2R9BY80;A0A2R9BY85 MODEL JARIFH010000001;XM_008964274;XM_008964275 XP_008962522;XP_008962523 A0A2R9BPY5 protein-coding ENSPPAG00000038673 1 139551681 139559954 - 11671250 LOC103785148 uncharacterized LOC103785148 1 1 1 182249076 182253589 + 44374342 44382054 - 42999909 43003800 - 103785148 MODEL JARIFH010000001;XR_004672288;XR_008620172 uncharacterized protein LOC103785148 ncrna 11671269 LOC103785300 non-histone chromosomal protein HMG-17-like 17 17 17 24115169 24122455 + 14781508 14787341 + 14556987 14559862 + 103785300 MODEL JARIFH010000018;XR_004667157 uncharacterized LOC103785300;uncharacterized protein LOC103785300 APPROVED pseudo 11671282 LOC106634721 stathmin-like 4 4 4 135687856 135689233 - 141102765 141103281 - 129781615 129782579 - 106634721 MODEL JARIFH010000005 stathmin pseudogene APPROVED pseudo 11671283 PHB1 prohibitin 1 ENCODES a protein that exhibits complement component C3a binding (ortholog); complement component C3b binding (ortholog); enzyme binding (ortholog); INVOLVED IN animal organ regeneration (ortholog); antiviral innate immune response (ortholog); B cell activation (ortholog); ASSOCIATED WITH adenocarcinoma (ortholog); Animal Mammary Neoplasms (ortholog); Brain Injuries (ortholog); FOUND IN cell surface (ortholog); cytoplasm (ortholog); early endosome (ortholog) 17 17 17 17718717 17728876 + 8175912 8186790 + 8189555 8200491 + 22301074;30032202 100967501 A0A2R8ZR25;A0A2R8ZWW6 MODEL JARIFH010000018;XM_003810048;XM_003810049;XM_034941499 XP_003810096;XP_003810097;XP_034797390 A0A2R8ZR25 PHB prohibitin APPROVED protein-coding ENSPPAG00000026668 17 8175968 8186790 + 11671300 RPS2 ribosomal protein S2 ENCODES a protein that exhibits enzyme binding (ortholog); fibroblast growth factor binding (ortholog); mRNA binding (ortholog); INVOLVED IN cellular response to interleukin-4 (ortholog); formation of translation preinitiation complex (ortholog); response to ethanol (ortholog); PARTICIPATES IN ribosome biogenesis pathway; translation pathway; ASSOCIATED WITH atrial fibrillation (ortholog); epilepsy (ortholog); genetic disease (ortholog); FOUND IN cytosolic ribosome (ortholog); cytosolic small ribosomal subunit (ortholog); nucleolus (ortholog) 16 16 16 6164618 6167276 + 2051083 2053825 - 739562 742323 + 22301074;30032202 100967717 A0A2R8ZZA7;A0A2R9A0E6;A0A2R9A3M2;A0A2R9B9S7 MODEL JARIFH010000017;XM_014341623 XP_014197109 A0A2R9B9S7 40S ribosomal protein S2 protein-coding ENSPPAG00000028366;ENSPPAG00000036261 16 2051128 2054086 - 11671310 PRAC1 PRAC1 small nuclear protein ASSOCIATED WITH genetic disease (ortholog); FOUND IN cytosol (inferred); nucleoplasm (inferred) 17 17 17 18345756 18346544 + 9000333 9001255 + 8814097 8815014 + 100967972 A0A2R8ZE87 MODEL JARIFH010000018;XM_003827507 XP_003827555 A0A2R8ZE87 PRAC prostate cancer susceptibility candidate 1;small nuclear protein PRAC1 APPROVED protein-coding ENSPPAG00000014004 17 9000333 9001250 + 11671317 PLEC plectin ENCODES a protein that exhibits cytoskeletal protein binding (ortholog); structural constituent of cytoskeleton (ortholog); structural constituent of muscle (ortholog); INVOLVED IN epithelial cell differentiation (ortholog); female pregnancy (ortholog); response to nutrient (ortholog); ASSOCIATED WITH arrhythmogenic right ventricular dysplasia 1 (ortholog); autosomal recessive limb-girdle muscular dystrophy (ortholog); autosomal recessive limb-girdle muscular dystrophy type 2Q (ortholog); FOUND IN apical plasma membrane (ortholog); axon (ortholog); basal plasma membrane (ortholog) 8 8 8 136934031 136995506 - 143673672 143711211 - 140681252 140742753 - 22301074;30032202 100968141 A0A2R9CAM0;A0A2R9CAQ2;A0A2R9CAU8;A0A2R9CDC3;A0A2R9CDC9 MODEL JARIFH010000009;XM_034966854;XM_034966855;XM_034966856;XM_034966857;XM_034966858;XM_034966859;XM_034966861;XM_034966862;XM_034966863;XM_034966864;XM_034966865;XM_034966866;XM_034966867;XM_034966868;XM_034966869;XM_034966870;XM_034966872;XM_034966873;XM_034966874;XM_034966875;XM_034966876;XM_034966877;XM_034966878;XM_034966879;XM_034966880;XM_034966881;XM_034966883;XM_034966884;XM_055116055;XM_055116056;XM_055116057 XP_034822745;XP_034822746;XP_034822747;XP_034822748;XP_034822749;XP_034822753;XP_034822754;XP_034822755;XP_034822756;XP_034822757;XP_034822758;XP_034822759;XP_034822760;XP_034822761;XP_034822763;XP_034822764;XP_034822765;XP_034822766;XP_034822767;XP_034822768;XP_034822769;XP_034822770;XP_034822772;XP_034822774;XP_054972030;XP_054972031;XP_054972032 A0A2R9CDC9 protein-coding ENSPPAG00000042112 8 143674696 143712433 - 11671355 CSDE1 cold shock domain containing E1 ENCODES a protein that exhibits nucleic acid binding (inferred); RNA stem-loop binding (inferred); INVOLVED IN CRD-mediated mRNA stabilization (inferred); IRES-dependent viral translational initiation (inferred); negative regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (inferred); ASSOCIATED WITH genetic disease (ortholog); hereditary spastic paraplegia 47 (ortholog); RASopathy (ortholog); FOUND IN mCRD-mediated mRNA stability complex (ortholog) 1 1 1 106973319 107014750 - 122849898 122890959 + 87796518 87837602 + 22301074 100968628 A0A2R8ZQ63;A0A2R8ZQ78;A0A2R8ZRE2;A0A2R8ZT70;A0A2R8ZW03;A0A2R8ZW19;A0A2R8ZW38 MODEL JARIFH010000001;XM_003805636;XM_003805637;XM_003805638;XM_003805639;XM_003805640;XM_003805641;XM_034930072;XM_055114273;XM_055114276;XM_055114280;XM_055114287;XM_055114289;XM_055114290;XM_055114291;XM_055114292;XM_055114296 XP_003805684;XP_003805685;XP_003805687;XP_003805689;XP_034785963;XP_054970248;XP_054970251;XP_054970255;XP_054970262;XP_054970264;XP_054970265;XP_054970266;XP_054970267;XP_054970271 A0A2R8ZW03 cold shock domain-containing protein E1 protein-coding ENSPPAG00000025861 1 122849903 122890959 + 11671395 UXS1 UDP-glucuronate decarboxylase 1 ENCODES a protein that exhibits UDP-glucuronate decarboxylase activity (ortholog); INVOLVED IN D-xylose metabolic process (inferred); UDP-D-xylose biosynthetic process (inferred); PARTICIPATES IN galactokinase deficiency pathway; GALE deficiency pathway; nucleotide sugar metabolic pathway; ASSOCIATED WITH Craniofacial Abnormalities (ortholog); genetic disease (ortholog); FOUND IN catalytic complex (inferred); Golgi apparatus (inferred); Golgi cisterna membrane (inferred) 2A 2A 2A 21542537 21660161 + 107168081 107234626 - 95652107 95770022 + 22301074;30032202 100969707 A0A2R8ZX65 MODEL JARIFH010000002;XM_034953600;XM_034953601;XM_034953602;XM_034953603;XM_034953604;XM_034953605;XM_034953606;XM_034953607 XP_034809491;XP_034809492;XP_034809493;XP_034809495;XP_034809496 A0A2R8ZX65 UDP-glucuronic acid decarboxylase 1 protein-coding ENSPPAG00000027425 2A 107168309 107234632 - 11671420 ODAPH odontogenesis associated phosphoprotein INVOLVED IN positive regulation of biomineral tissue development (inferred); positive regulation of enamel mineralization (inferred); ASSOCIATED WITH amelogenesis imperfecta hypomaturation type 2A4 (ortholog); progressive myoclonus epilepsy (ortholog) 4 4 4 54691688 54706601 - 54474726 54484548 - 48640355 48649546 - 30032202 100970206 A0A2R9BDU2 MODEL JARIFH010000005;XM_003832314;XM_008957718 XP_003832362;XP_008955966 A0A2R9BDU2 C4H4orf26 chromosome 4 C4orf26 homolog;uncharacterized protein C4orf26 homolog APPROVED protein-coding ENSPPAG00000036734 4 54471278 54484548 - 11671435 PRUNE1 prune exopolyphosphatase 1 ENCODES a protein that exhibits hydrolase activity (inferred); metal ion binding (inferred); phosphatase activity (inferred); INVOLVED IN regulation of microtubule polymerization (inferred); regulation of neurogenesis (inferred); ASSOCIATED WITH gastrointestinal stromal tumor (ortholog); genetic disease (ortholog); immunodeficiency 42 (ortholog); FOUND IN cytoplasm (inferred); cytosol (inferred) 1 1 1 98551837 98579192 - 130006097 130032985 + 126357779 126385120 + 22301074;30032202 100970437 A0A2R9AQI1;A0A2R9AX72;A0A2R9AX78 MODEL JARIFH010000001;XM_008970436;XM_008970437;XM_008970438;XM_014347047;XM_034935025;XM_034935029;XM_055101573;XM_055101575 XP_008968684;XP_008968686;XP_054957548;XP_054957550 A0A2R9AX72 exopolyphosphatase PRUNE1;protein prune homolog;prune exopolyphosphatase;prune homolog APPROVED protein-coding ENSPPAG00000033014 1 130006097 130032985 + 11671466 CCDC40 coiled-coil domain containing 40 INVOLVED IN axoneme assembly (ortholog); cilium movement (ortholog); determination of left/right symmetry (ortholog); ASSOCIATED WITH autism spectrum disorder (ortholog); Cardiac Form of Generalized Glycogenosis (ortholog); genetic disease (ortholog); FOUND IN cytoplasm (ortholog); motile cilium (ortholog) 17 17 17 100923838 100990612 + 79656287 79722565 + 74120483 74187323 + 30032202 100970896 A0A2R8ZUR1;A0A2R8ZUS6;A0A2R8ZVW4;A0A2R9A0D9 MODEL JARIFH010000018;XM_003818255;XM_024926103;XM_034943042;XM_034943043;XM_034943044;XR_004667406 XP_003818303;XP_024781871;XP_034798935 A0A2R8ZVW4 coiled-coil domain-containing protein 40 protein-coding ENSPPAG00000027589 17 79656287 79722565 + 11671494 MED9 mediator complex subunit 9 ENCODES a protein that exhibits transcription coregulator activity (inferred); INVOLVED IN regulation of transcription by RNA polymerase II (inferred); PARTICIPATES IN RNA polymerase II transcription pathway; ASSOCIATED WITH autistic disorder (ortholog); Birt-Hogg-Dube syndrome (ortholog); common variable immunodeficiency 2 (ortholog); FOUND IN core mediator complex (ortholog) 17 17 17 56704794 56720996 + 38749397 38765618 - 33802916 33819107 - 22301074;30032202 100971524 A0A2R9CME6;A0A2R9CSE1 MODEL JARIFH010000018;XM_003808772 XP_003808820 A0A2R9CSE1 mediator of RNA polymerase II transcription subunit 9 protein-coding ENSPPAG00000043683 17 38749397 38765618 - 11671500 PRICKLE4 prickle planar cell polarity protein 4 ENCODES a protein that exhibits metal ion binding (inferred); zinc ion binding (inferred); ASSOCIATED WITH genetic disease (ortholog); infantile Refsum disease (ortholog); Zellweger syndrome (ortholog) 6 6 6 52143184 52150119 + 42670471 42678679 + 41365372 41372628 + 22301074 100972948 A0A2R9B6X6;A0A2R9B8E8 MODEL JARIFH010000007;XM_034962083;XM_034962084;XM_034962085;XM_034962087;XM_055113596 XP_034817974;XP_034817976;XP_034817978;XP_054969571 A0A2R9B6X6 prickle-like protein 4 protein-coding ENSPPAG00000035806 6 42670471 42678675 + 11671519 LOC100972958 dnaJ homolog subfamily C member 8-like 8 8 8 134908842 134909625 - 141726057 141726840 - 138657111 138657894 - 100972958 MODEL JARIFH010000009 dnaJ homolog subfamily C member 8 pseudogene APPROVED pseudo 11671520 ENGASE endo-beta-N-acetylglucosaminidase ENCODES a protein that exhibits hydrolase activity (inferred); hydrolase activity, acting on glycosyl bonds (inferred); mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (inferred); ASSOCIATED WITH genetic disease (ortholog); pityriasis rubra pilaris (ortholog); FOUND IN cytoplasm (inferred); cytosol (inferred) 17 17 17 99951909 99969020 + 78692220 78705611 + 73149318 73166414 + 22301074;30032202 100973178 A0A2R9C2L2;A0A2R9C2M2 MODEL JARIFH010000018;XM_003818259;XM_008971529;XM_055101453;XM_055101454;XM_055101455;XR_003026158;XR_004667402;XR_008621678;XR_008621679 XP_003818307;XP_054957428;XP_054957429;XP_054957430 A0A2R9C2L2 cytosolic endo-beta-N-acetylglucosaminidase protein-coding ENSPPAG00000040775 17 78692220 78705605 + 11671547 MCM3AP minichromosome maintenance complex component 3 associated protein ENCODES a protein that exhibits chromatin binding (inferred); histone acetyltransferase activity (inferred); histone binding (inferred); INVOLVED IN nucleosome organization (inferred); poly(A)+ mRNA export from nucleus (inferred); somatic hypermutation of immunoglobulin genes (inferred); ASSOCIATED WITH autism spectrum disorder (ortholog); autistic disorder (ortholog); Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development (ortholog); FOUND IN cytoplasm (inferred); cytosol (inferred); nuclear membrane (inferred) 21 21 21 37207022 37258643 - 45828365 45878100 - 32577539 32629060 - 22301074;30032202 100975139 A0A2R8ZND0 MODEL JARIFH010000022;XM_034948057;XM_034948058;XM_034948059;XM_034948060;XM_055105162 XP_034803948;XP_034803949;XP_034803950;XP_034803951;XP_054961137 A0A2R8ZND0 protein-coding ENSPPAG00000025048 21 45828554 45878100 - 11671580 STX7 syntaxin 7 ENCODES a protein that exhibits protein-containing complex binding (ortholog); SNARE binding (ortholog); INVOLVED IN endosome to lysosome transport (ortholog); vesicle fusion (ortholog); vesicle-mediated transport (ortholog); ASSOCIATED WITH genetic disease (ortholog); FOUND IN endosome (ortholog); late endosome membrane (ortholog); lysosomal membrane (ortholog) 6 6 6 150345389 150402661 - 134342305 134397533 - 130232041 130289326 - 22301074;30032202 100975962 A0A2R8ZQ90 MODEL JARIFH010000007;XM_003827662;XM_008953011 XP_003827710;XP_008951259 A0A2R8ZQ90 syntaxin-7 protein-coding ENSPPAG00000026222 6 134342304 134398215 - 11671597 DRAM2 DNA damage regulated autophagy modulator 2 INVOLVED IN photoreceptor cell maintenance (inferred); regulation of autophagy (inferred); visual perception (inferred); ASSOCIATED WITH autistic disorder (ortholog); cone-rod dystrophy (ortholog); Cone-Rod Dystrophy 21 (ortholog); FOUND IN apical plasma membrane (inferred); cytoplasm (inferred); Golgi apparatus (inferred) 1 1 1 115052485 115074247 + 126561090 126583883 + 113763013 113786070 - 30032202 100976405 A0A2R9ATN2 MODEL JARIFH010000001;XM_003810675;XM_008963001;XM_008963002;XM_024927943;XM_024927946;XM_055114557;XR_003027384;XR_004665196 XP_008961249;XP_008961250;XP_054970532 A0A2R9ATN2 DNA damage-regulated autophagy modulator protein 2 protein-coding ENSPPAG00000033552 1 126569722 126583883 + 11671624 SRA1 steroid receptor RNA activator 1 ENCODES a protein that exhibits DNA binding (ortholog); nuclear receptor binding (ortholog); nuclear receptor coactivator activity (ortholog); INVOLVED IN positive regulation of transcription by RNA polymerase II (ortholog); regulation of transcription by RNA polymerase II (ortholog); PARTICIPATES IN estrogen signaling pathway; ASSOCIATED WITH autosomal dominant intellectual developmental disorder 31 (ortholog); congestive heart failure (ortholog); familial adenomatous polyposis 1 (ortholog); FOUND IN cell leading edge (ortholog); ribonucleoprotein complex (ortholog); transcription regulator complex (ortholog) 5 5 5 133947590 133955302 - 142032113 142040137 - 135914506 135922704 - 30032202 100976547 A0A2R9AUP5 MODEL JARIFH010000006;XM_008954551;XM_034960621 XP_008952799;XP_034816512 A0A2R9AUP5 protein-coding ENSPPAG00000032469 5 142032119 142039188 - 11671632 SFT2D2 SFT2 domain containing 2 INVOLVED IN protein transport (inferred); vesicle-mediated transport (inferred); ASSOCIATED WITH gastrointestinal stromal tumor (ortholog); genetic disease (ortholog); immunodeficiency 25 (ortholog); FOUND IN membrane (inferred) 1 1 1 81120555 81210884 - 147437627 147526156 + 143711788 143800206 + 22301074;30032202 100977178 A0A2R9A4Q2;A0A2R9A8W4 MODEL JARIFH010000001;XM_003824611;XM_014342011;XM_034939893;XM_034939901;XM_034939905;XM_034939910;XM_055111938 XP_003824659;XP_014197497;XP_034795784;XP_054967913 A0A2R9A4Q2 LOC100977178;TBX19 T-box 19;T-box transcription factor TBX19;vesicle transport protein SFT2B APPROVED protein-coding ENSPPAG00000029125 1 147437627 147454541 + 11671662 ACP7 acid phosphatase 7, tartrate resistant (putative) ENCODES a protein that exhibits acid phosphatase activity (inferred); hydrolase activity (inferred); metal ion binding (inferred); ASSOCIATED WITH genetic disease (ortholog); maturity-onset diabetes of the young type 1 (ortholog); type 2 diabetes mellitus (ortholog) 19 19 19 47237020 47282622 + 44731722 44758298 + 36182793 36211695 + 22301074 100977426 A0A2R9AF65;A0A2R9AF82 MODEL JARIFH010000020;XM_034944746;XM_034944747;XM_034944749;XM_034944750;XM_034944751;XM_034944752;XM_034944753;XM_055103597;XR_004667778 XP_034800637;XP_034800638;XP_034800640;XP_034800642;XP_034800643;XP_034800644;XP_054959572 A0A2R9AF65 acid phosphatase type 7 protein-coding ENSPPAG00000030233 19 44733177 44757204 + 11671679 LOC100977711 olfactory receptor 51D1 ASSOCIATED WITH delta beta-thalassemia (ortholog); genetic disease (ortholog) 11 11 11 7054009 7059856 + 4477777 4478752 + 4810222 4813774 + 22301074 100977711 MODEL JARIFH010000012;XM_057299068 XP_057155051 protein-coding 11671682 ATP10A ATPase phospholipid transporting 10A (putative) ENCODES a protein that exhibits ATP binding (inferred); ATP hydrolysis activity (inferred); ATPase-coupled intramembrane lipid transporter activity (inferred); INVOLVED IN lipid translocation (inferred); lipid transport (inferred); phospholipid transport (inferred); ASSOCIATED WITH Angelman syndrome (ortholog); autism spectrum disorder (ortholog); autistic disorder (ortholog); FOUND IN phospholipid-translocating ATPase complex (ortholog) 15 15 15 13080832 13266857 + 23090927 23275674 - 4064605 4262695 + 22301074;30032202 100977979 A0A2R8ZGK0;A0A2R8ZGK8 MODEL JARIFH010000016;XM_003828068;XM_034938414;XM_055098745 XP_003828116;XP_054954720 A0A2R8ZGK0 phospholipid-transporting ATPase VA;probable phospholipid-transporting ATPase VA protein-coding ENSPPAG00000007479 15 23090927 23275674 - 11671706 BRAT1 BRCA1 associated ATM activator 1 INVOLVED IN apoptotic process (inferred); cell migration (inferred); cell population proliferation (inferred); ASSOCIATED WITH D-bifunctional protein deficiency (ortholog); Dravet syndrome (ortholog); epilepsy (ortholog); FOUND IN cytoplasm (inferred); nucleoplasm (inferred); nucleus (inferred) 7 7 7 55818774 55837638 - 2892302 2910143 - 2797551 2815847 - 22301074;30032202 100978272 A0A2R9C097;A0A2R9C0A6 MODEL JARIFH010000008;XM_003819744;XM_008973156;XM_008973157;XM_024929705;XM_034963536;XM_034963537;XM_034963538;XM_055115675;XM_055115676;XM_055115677;XM_055115678;XM_055115679;XM_055115680;XM_055115681 XP_003819792;XP_054971650;XP_054971651;XP_054971652;XP_054971653;XP_054971654;XP_054971655;XP_054971656 A0A2R9C097 BRCA1-associated ATM activator 1 protein-coding ENSPPAG00000040486 7 2892302 2910143 - 11671741 LOC100979030 putative V-set and immunoglobulin domain-containing-like protein IGHV1OR21-1 14 7 14 19878320 19878765 - 30124442 30124887 - 3503 3948 - 30032202 100979030 MODEL JARIFH010000015;XM_003833369 XP_003833417 putative V-set and immunoglobulin domain-containing protein 7 protein-coding 11671745 SPINDOC spindlin interactor and repressor of chromatin binding INVOLVED IN DNA damage response (inferred); negative regulation of DNA-templated transcription (inferred); ASSOCIATED WITH high grade glioma (ortholog); intellectual disability (ortholog); leukocyte adhesion deficiency 3 (ortholog); FOUND IN nucleus (ortholog); site of DNA damage (ortholog) 11 11 11 66085953 66099930 + 62521573 62535275 + 59171031 59185006 + 30032202 100979784 A0A2R9AF09 MODEL JARIFH010000012;XM_003828537;XM_014346896;XM_034932838;XM_034932839;XM_034932840;XM_034932841;XM_034932842 XP_003828585;XP_014202382;XP_034788729;XP_034788730;XP_034788731;XP_034788732;XP_034788733 A0A2R9AF09 C11H11orf84 chromosome 11 open reading frame, human C11orf84;uncharacterized protein C11orf84 homolog APPROVED protein-coding ENSPPAG00000031069 11 62521573 62535275 + 11671764 LOC100980541 serine/threonine-protein kinase NLK-like ENCODES a protein that exhibits ATP binding (inferred); kinase activity (inferred); MAP kinase activity (inferred); INVOLVED IN MAPK cascade (inferred); phosphorylation (inferred); signal transduction (inferred) 9 9 9 51444188 51451003 - 87175691 87177518 + 59103079 59105867 + 22301074;30032202 100980541 A0A2R8ZG39 MODEL JARIFH010000010;XM_034967648 XP_034823539 A0A2R8ZG39 serine/threonine-protein kinase NLK pseudogene APPROVED protein-coding ENSPPAG00000007240 11671767 ATP6V1A ATPase H+ transporting V1 subunit A ENCODES a protein that exhibits ATP binding (inferred); ATP hydrolysis activity (inferred); nucleotide binding (inferred); INVOLVED IN ATP metabolic process (inferred); cellular response to increased oxygen levels (inferred); intracellular iron ion homeostasis (inferred); ASSOCIATED WITH autosomal recessive cutis laxa type IID (ortholog); brain disease (ortholog); Cerebral Visual Impairment and Intellectual Disability (ortholog); FOUND IN extrinsic component of synaptic vesicle membrane (ortholog) 3 3 3 111746707 111810425 + 117808963 117872349 + 110888504 110951750 + 22301074;30032202 100980582 A0A2R9C8F6 MODEL JARIFH010000004;XM_003825111;XM_055110285 XP_003825159;XP_054966260 A0A2R9C8F6 V-type proton ATPase catalytic subunit A protein-coding ENSPPAG00000041774 3 117808963 117872349 + 11671786 YIPF1 Yip1 domain family member 1 ENCODES a protein that exhibits small GTPase binding (inferred); INVOLVED IN vesicle-mediated transport (inferred); ASSOCIATED WITH genetic disease (ortholog); FOUND IN endosome membrane (inferred); Golgi apparatus (inferred); Golgi medial cisterna (inferred) 1 1 1 172087839 172125713 + 54720334 54758382 - 53125832 53163694 - 22301074;30032202 100981061 A0A2R9B953 MODEL JARIFH010000001;XM_003815005;XM_008967881;XM_057298818;XR_004672767;XR_008954497;XR_008954498;XR_008954499;XR_611163;XR_611164 XP_003815053;XP_057154801 A0A2R9B953 protein-coding ENSPPAG00000035941 1 54720334 54758382 - 11671815 UBE2D2 ubiquitin conjugating enzyme E2 D2 ENCODES a protein that exhibits ATP binding (inferred); nucleotide binding (inferred); transferase activity (inferred); INVOLVED IN protein autoubiquitination (inferred); protein K48-linked ubiquitination (inferred); protein modification by small protein conjugation (inferred); PARTICIPATES IN ubiquitin/proteasome degradation pathway; ASSOCIATED WITH autosomal dominant intellectual developmental disorder 31 (ortholog); familial adenomatous polyposis 1 (ortholog); genetic disease (ortholog); FOUND IN protein-containing complex (inferred); ubiquitin ligase complex (inferred) 5 5 5 132961832 133030281 + 141048385 141115842 + 134927150 134995298 + 30032202 100981165 A0A2R9C3M3;A0A2R9CDE7 MODEL JARIFH010000006;XM_003829199 XP_003829247 A0A2R9C3M3 ubiquitin-conjugating enzyme E2 D2 protein-coding ENSPPAG00000040948 5 141048385 141115842 + 11671833 DOP1B DOP1 leucine zipper like protein B INVOLVED IN cognition (inferred); embryonic pattern specification (inferred); Golgi to endosome transport (inferred); ASSOCIATED WITH amyotrophic lateral sclerosis type 1 (ortholog); autosomal dominant intellectual developmental disorder 7 (ortholog); genetic disease (ortholog); FOUND IN cytosol (inferred); early endosome membrane (inferred) 21 21 21 27137537 27275953 + 35886846 36022790 + 22527124 22664287 + 30032202 100982243 A0A2R8ZMS1;A0A2R8ZP01 MODEL JARIFH010000022;XM_008977670;XM_008977671;XR_004668487 XP_008975918;XP_008975919 A0A2R8ZMS1 DOPEY2 dopey family member 2 APPROVED protein-coding ENSPPAG00000024601 21 35886846 36022790 + 11671877 SUSD3 sushi domain containing 3 ASSOCIATED WITH genetic disease (ortholog); FOUND IN membrane (inferred); plasma membrane (inferred) 9 9 9 46345121 46371510 - 92249042 92275305 + 64182304 64208703 + 30032202 100982679 A0A2R9BIP2;A0A2R9BM86;A0A2R9BSF1 MODEL JARIFH010000010;XM_003807854;XM_008959984;XM_034967730;XM_034967731;XM_034967732;XM_055091773 XP_003807902;XP_008958232;XP_034823621;XP_034823623;XP_054947748 A0A2R9BM86 sushi domain-containing protein 3 protein-coding ENSPPAG00000037775 9 92249042 92275305 + 11671889 TXNDC8 thioredoxin domain containing 8 ENCODES a protein that exhibits protein-disulfide reductase activity (ortholog); INVOLVED IN acrosome assembly (ortholog); spermatogenesis (ortholog); ASSOCIATED WITH fetal akinesia deformation sequence syndrome 1 (ortholog); genetic disease (ortholog); male infertility (ortholog); FOUND IN acrosomal vesicle (ortholog); cytoplasm (ortholog); sperm flagellum (ortholog) 9 9 9 29071423 29105892 + 109624764 109658849 - 81458398 81492855 - 30032202 100984170 A0A2R9CIY3;A0A2R9CLN1;A0A2R9CS22 MODEL JARIFH010000010;XM_003810883;XM_008963260;XM_008963261;XM_034967955;XM_034967956;XM_057298676;XM_057298677 XP_003810931;XP_008961508;XP_008961509;XP_057154659;XP_057154660 A0A2R9CS22 thioredoxin domain-containing protein 8 protein-coding ENSPPAG00000043556 9 109624698 109658849 - 11671903 GPR19 G protein-coupled receptor 19 ENCODES a protein that exhibits G protein-coupled receptor activity (inferred); INVOLVED IN G protein-coupled receptor signaling pathway (inferred); signal transduction (inferred); ASSOCIATED WITH autosomal dominant intellectual developmental disorder 6 (ortholog); genetic disease (ortholog); multiple endocrine neoplasia type 4 (ortholog); FOUND IN neuron projection (ortholog) 12 12 12 18126389 18182310 - 13064345 13099416 - 12686130 12723104 - 22301074;30032202 100984376 A0A2R8ZI60 MODEL JARIFH010000013;XM_003808848;XM_055095415;XM_055095416;XM_055095417;XM_055095418;XM_055095419 XP_003808896;XP_054951390;XP_054951391;XP_054951392;XP_054951393;XP_054951394 A0A2R8ZI60 probable G-protein coupled receptor 19 protein-coding ENSPPAG00000019455 12 13064485 13065732 - 11671916 UNC119 unc-119 lipid binding chaperone ENCODES a protein that exhibits lipid binding (ortholog); INVOLVED IN lipoprotein transport (ortholog); mitotic cytokinesis (ortholog); negative regulation of caveolin-mediated endocytosis (ortholog); ASSOCIATED WITH cone-rod dystrophy (ortholog); Cone-Rod Dystrophy 24 (ortholog); genetic disease (ortholog); FOUND IN centrosome (ortholog); intercellular bridge (ortholog); spindle midzone (ortholog) 17 17 17 37787803 37793737 + 28729569 28732229 + 28223428 28229361 + 30032202 100984973 A0A2R9C9L4 MODEL JARIFH010000018;XM_034942210 XP_034798101 A0A2R9C9L4 unc-119 homolog protein-coding ENSPPAG00000041981 11671924 LIPG lipase G, endothelial type ENCODES a protein that exhibits 1-acyl-2-lysophosphatidylserine acylhydrolase activity (inferred); carboxylic ester hydrolase activity (inferred); heparin binding (inferred); INVOLVED IN regulation of lipoprotein metabolic process (ortholog); response to nutrient (ortholog); ASSOCIATED WITH arteriosclerosis (ortholog); cardiovascular system disease (ortholog); cerebral infarction (ortholog); FOUND IN extracellular space (ortholog) 18 18 18 52781037 52811017 + 46291051 46320652 + 42942132 42972112 + 22301074 100985842 A0A2R9AZV2;A0A2R9B1A7;A0A2R9B3X0 MODEL JARIFH010000019;XM_003827208;XM_008952561 XP_003827256;XP_008950809 A0A2R9B1A7 endothelial lipase protein-coding ENSPPAG00000034597 18 46292154 46320652 + 11671941 LOC100985932 uncharacterized LOC100985932 6 6 6 103633428 103666075 - 86846140 86847849 - 83565520 83567253 - 100985932 MODEL JARIFH010000007;XR_004672049;XR_008625703;XR_008625704;XR_008625705;XR_008625706;XR_008625707;XR_008625708;XR_008625709;XR_008955678;XR_008955679;XR_008955680;XR_008955681;XR_612548 ncrna 11671964 STX10 syntaxin 10 ENCODES a protein that exhibits SNAP receptor activity (inferred); syntaxin binding (inferred); INVOLVED IN early endosome to Golgi transport (ortholog); ASSOCIATED WITH alpha-mannosidosis (ortholog); Charcot-Marie-Tooth disease dominant intermediate B (ortholog); episodic ataxia type 2 (ortholog); FOUND IN cytosol (inferred); Golgi apparatus (inferred); Golgi membrane (inferred) 19 19 19 17075057 17082274 - 13445784 13449422 - 12707389 12713681 - 22301074 100989116 A0A2R9CA96;A0A2R9CAB8;A0A2R9CAF2 MODEL JARIFH010000020;XM_003814841;XM_008967694;XM_008967695 XP_003814889;XP_008965942;XP_008965943 A0A2R9CA96 syntaxin-10 protein-coding ENSPPAG00000042146 19 13445784 13449422 - 11671987 SUMF2 sulfatase modifying factor 2 ENCODES a protein that exhibits identical protein binding (inferred); ASSOCIATED WITH autistic disorder (ortholog); genetic disease (ortholog); mucosulfatidosis (ortholog); FOUND IN endoplasmic reticulum (inferred); endoplasmic reticulum lumen (inferred) 7 7 7 109241093 109257505 + 57099758 57116307 + 56677230 56693639 + 30032202 100991133 A0A2R9B7J0;A0A2R9BEZ1 MODEL JARIFH010000008;XM_034964151;XM_034964152;XM_034964153;XM_034964154;XM_034964155;XM_034964156;XM_034964157;XM_034964158;XM_034964159;XM_034964160;XM_034964161;XM_034964162;XM_055115972;XM_055115973 XP_034820047;XP_034820048;XP_034820050;XP_034820051;XP_034820053;XP_054971947;XP_054971948 A0A2R9BEZ1 inactive C-alpha-formylglycine-generating enzyme 2;sulfatase-modifying factor 2 protein-coding ENSPPAG00000035909 11672000 LOC100991784 keratin, type I cytoskeletal 18-like X X X 47617110 47620282 + 46287413 46290705 + 38423748 38426920 + 100991784 MODEL JARIFH010000024 keratin, type I cytoskeletal 18 pseudogene APPROVED pseudo 11672001 CAMK2N2 calcium/calmodulin dependent protein kinase II inhibitor 2 ENCODES a protein that exhibits calcium-dependent protein kinase inhibitor activity (ortholog); protein kinase binding (ortholog); PARTICIPATES IN calcium/calmodulin dependent kinase 2 signaling pathway; ASSOCIATED WITH 3-Methylcrotonyl-CoA carboxylase 1 deficiency (ortholog); congenital disorder of glycosylation Id (ortholog); Currarino syndrome (ortholog); FOUND IN synapse (ortholog) 3 3 182134388 182136727 - 181293755 181296088 - 30032202 100991857 A0A2R8ZH27 MODEL JARIFH010000004;XM_003804180 XP_003804228 A0A2R8ZH27 calcium/calmodulin-dependent protein kinase II inhibitor 2 protein-coding ENSPPAG00000018121 11672002 NANOS3 nanos C2HC-type zinc finger 3 ENCODES a protein that exhibits metal ion binding (inferred); RNA binding (inferred); zinc ion binding (inferred); INVOLVED IN apoptotic signaling pathway (ortholog); negative regulation of apoptotic signaling pathway (ortholog); oogenesis (ortholog); ASSOCIATED WITH genetic disease (ortholog); FOUND IN cytoplasm (inferred); cytoplasmic stress granule (inferred); cytosol (inferred) 19 19 19 17804178 17811032 + 14170500 14173267 + 13427661 13443218 + 30032202 100992511 A0A2R9AL42;A0A2R9AQQ2 MODEL JARIFH010000020;XM_003814849 XP_003814897 A0A2R9AL42 nanos homolog 3 protein-coding ENSPPAG00000032168 19 14170699 14173013 + 11672008 SAMD14 sterile alpha motif domain containing 14 ASSOCIATED WITH genetic disease (ortholog); osteogenesis imperfecta type 1 (ortholog) 17 17 17 71106556 71125346 - 49076058 49094497 - 44202161 44220197 - 30032202 100993119 A0A2R9A900 MODEL JARIFH010000018;XM_003817466;XM_003817467;XM_034942428;XM_034942429;XM_034942430;XM_055102122 XP_003817514;XP_003817515;XP_034798319;XP_034798320;XP_034798321;XP_054958097 A0A2R9A900 sterile alpha motif domain-containing protein 14 protein-coding ENSPPAG00000029871 17 49077639 49087938 - 11672029 PRKX protein kinase cAMP-dependent X-linked catalytic subunit ENCODES a protein that exhibits ATP binding (inferred); cAMP-dependent protein kinase activity (inferred); kinase activity (inferred); INVOLVED IN angiogenesis (inferred); cell adhesion (inferred); cell-substrate adhesion (inferred); ASSOCIATED WITH autistic disorder (ortholog); genetic disease (ortholog); Neurodevelopmental Disorders (ortholog); FOUND IN cytoplasm (inferred); nucleoplasm (inferred); nucleus (inferred) X X 5246143 5356363 - 3548503 3654289 - 22301074 100993844 A0A2R9CL70 MODEL JARIFH010000024;XM_003823343 XP_003823391 A0A2R9CL70 cAMP-dependent protein kinase catalytic subunit PRKX APPROVED protein-coding ENSPPAG00000043475 X 3547985 3654322 - 11672045 PDGFRL platelet derived growth factor receptor like ASSOCIATED WITH colon carcinoma (ortholog); colorectal cancer (ortholog); Colorectal Neoplasms (ortholog) 8 8 8 11776593 11844204 + 13747648 13814743 + 16795211 16862637 + 100996022 A0A2R9AP63;A0A2R9AT34 MODEL JARIFH010000009;XM_008977313 XP_008975561 A0A2R9AP63 platelet-derived growth factor receptor-like protein-like protein-coding ENSPPAG00000032635 8 13747164 13816294 + 11672084 PRELID3A PRELI domain containing 3A ENCODES a protein that exhibits phosphatidic acid transfer activity (inferred); INVOLVED IN intermembrane lipid transfer (inferred); phospholipid transport (inferred); ASSOCIATED WITH chromosome 18p deletion syndrome (ortholog); dystonia (ortholog); genetic disease (ortholog); FOUND IN mitochondrial intermembrane space (inferred) 18 18 18 11305929 11331371 - 17006556 17019054 - 1895635 1920455 - 30032202 100967442 A0A2R9B5F7;A0A2R9BAM2 MODEL JARIFH010000019;XM_008971136;XM_008971137;XM_034944072;XM_034944073;XM_034944074;XM_055102550;XM_055102551;XM_057300450 XP_008969384;XP_008969385;XP_034799963;XP_034799965;XP_054958525;XP_054958526;XP_057156433 A0A2R9BAM2 SLMO1 PRELI domain containing protein 3A;slowmo homolog 1 protein-coding ENSPPAG00000035268 18 17006556 17021984 - 11672100 MTHFS methenyltetrahydrofolate synthetase ENCODES a protein that exhibits folic acid binding (ortholog); INVOLVED IN folic acid catabolic process (ortholog); glutamate metabolic process (ortholog); tetrahydrofolate interconversion (ortholog); PARTICIPATES IN folate metabolic pathway; hereditary folate malabsorption pathway; methotrexate pharmacodynamics pathway; ASSOCIATED WITH Bloom syndrome (ortholog); cleft lip (ortholog); cleft palate (ortholog); FOUND IN cytoplasm (ortholog); cytosol (ortholog); mitochondrial matrix (ortholog) 15 15 15 73240652 73314535 - 77770216 77821811 - 58810966 58864831 - 30032202 100968550 A0A2R9AFD4;A0A2R9AFD8 MODEL JARIFH010000016;XM_008963075;XM_014341558;XM_034939258;XM_034939259;XM_055098232;XR_008621054;XR_008621055 XP_008961323;XP_014197044;XP_034795149;XP_034795150;XP_054954207 A0A2R9AFD8 LOC100968550 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase);5-formyltetrahydrofolate cyclo-ligase APPROVED protein-coding ENSPPAG00000031138 15 77770216 77822206 - 11672113 POU5F2 POU domain class 5, transcription factor 2 ENCODES a protein that exhibits sequence-specific DNA binding (ortholog); INVOLVED IN regulation of DNA-templated transcription (inferred); ASSOCIATED WITH Bosch-Boonstra-Schaaf optic atrophy syndrome (ortholog); familial adenomatous polyposis 1 (ortholog); genetic disease (ortholog); FOUND IN nucleus (inferred) 5 5 5 19802372 19819581 + 21763167 21764466 + 21624172 21627395 + 30032202 100968733 A0A2R8ZF34 MODEL JARIFH010000006;XM_003822770 XP_003822818 A0A2R8ZF34 POU domain, class 5, transcription factor 2 protein-coding ENSPPAG00000014596 5 21763211 21764197 + 11672118 ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide ENCODES a protein that exhibits alcohol dehydrogenase (NAD+) activity (ortholog); ethanol binding (ortholog); NAD binding (ortholog); INVOLVED IN alcohol catabolic process (ortholog); cellular aldehyde metabolic process (ortholog); ethanol metabolic process (ortholog); ASSOCIATED WITH alcohol dependence (ortholog); autism spectrum disorder (ortholog); Experimental Liver Cirrhosis (ortholog); FOUND IN cytosol (inferred); nucleoplasm (inferred) 4 4 4 97464601 97485231 - 102186670 102206923 - 91522444 91543086 - 22301074;30032202 100969617 A0A2R9CDG7;A0A2R9CNV9 MODEL JARIFH010000005;XM_003829924;XM_014344705;XM_034958942 XP_003829972;XP_014200191 A0A2R9CNV9 alcohol dehydrogenase 4;all-trans-retinol dehydrogenase [NAD(+)] ADH4 protein-coding ENSPPAG00000042651 4 102183956 102206923 - 11672138 KCNT2 potassium sodium-activated channel subfamily T member 2 ENCODES a protein that exhibits potassium channel activity (ortholog); INVOLVED IN potassium ion transport (ortholog); ASSOCIATED WITH Congenital Hyperinsulinism (ortholog); developmental and epileptic encephalopathy 57 (ortholog); epilepsy (ortholog); FOUND IN membrane (inferred); plasma membrane (inferred) 1 1 1 52800951 53192049 + 176001997 176391180 - 171722130 172112927 - 22301074;30032202 100970576 A0A2R9ASQ1;A0A2R9ASR0;A0A2R9AX18;A0A2R9AZ77;A0A2R9AZ85 MODEL JARIFH010000001;XM_003820604;XM_003820605;XM_008974047;XM_008974048;XM_034942971 XP_003820652;XP_003820653;XP_008972295;XP_008972296 A0A2R9AX18 potassium channel subfamily T member 2;potassium channel, subfamily T, member 2 protein-coding ENSPPAG00000033226 1 176003920 176390592 - 11672176 E2F6 E2F transcription factor 6 ENCODES a protein that exhibits DNA-binding transcription repressor activity, RNA polymerase II-specific (ortholog); RNA polymerase II transcription regulatory region sequence-specific DNA binding (ortholog); INVOLVED IN regulation of transcription by RNA polymerase II (ortholog); ASSOCIATED WITH genetic disease (ortholog); lung non-small cell carcinoma (ortholog); schizophrenia (ortholog); FOUND IN MLL1 complex (inferred); nucleoplasm (inferred); nucleus (inferred) 2A 2A 2A 115066683 115089189 + 11577950 11599732 - 11429887 11452080 - 22301074;30032202 100971071 A0A2R9BBC3;A0A2R9BCQ7;A0A2R9BCR0 MODEL JARIFH010000002;XM_003826975;XM_008952316;XM_008952317;XM_008952318;XM_008952319;XM_034952632;XM_034952633;XM_055108238;XM_055108239 XP_003827023;XP_008950564;XP_008950566;XP_008950567;XP_054964213;XP_054964214 A0A2R9BBC3 transcription factor E2F6 protein-coding ENSPPAG00000036538 2A 11577950 11599732 - 11672198 LOC100971080 olfactory receptor 5F1 ENCODES a protein that exhibits G protein-coupled receptor activity (inferred); olfactory receptor activity (inferred); INVOLVED IN detection of chemical stimulus involved in sensory perception of smell (inferred); G protein-coupled receptor signaling pathway (inferred); signal transduction (inferred); ASSOCIATED WITH genetic disease (ortholog); intellectual disability (ortholog); FOUND IN membrane (inferred) 11 11 58161060 58162375 - 51228713 51230028 - 22301074;30032202 100971080 A0A2R9AML4 MODEL JARIFH010000012;XM_008964093 XP_008962341 olfactory receptor 5F1-like APPROVED protein-coding 11672199 LOC100971272 TAR DNA-binding protein 43-like 13 13 13 60383278 60384589 + 60167146 60168359 + 41446399 41447703 + 100971272 MODEL JARIFH010000014 TAR DNA-binding protein 43 pseudogene APPROVED pseudo 11672200 RSF1 remodeling and spacing factor 1 ENCODES a protein that exhibits ATP hydrolysis activity (ortholog); INVOLVED IN chromatin organization (inferred); chromatin remodeling (inferred); DNA-templated transcription initiation (inferred); ASSOCIATED WITH genetic disease (ortholog); intellectual disability (ortholog); FOUND IN RSF complex (ortholog) 11 11 11 79641102 79801928 - 76364842 76525041 - 72724124 72885063 - 30032202 100972082 A0A2R8ZM30 MODEL JARIFH010000012;XM_003808137;XM_008960238 XP_003808185;XP_008958486 A0A2R8ZM30 protein-coding ENSPPAG00000020888 11 76364842 76525034 - 11672227 PPIA peptidylprolyl isomerase A ENCODES a protein that exhibits cyclosporin A binding (ortholog); heparan sulfate binding (ortholog); integrin binding (ortholog); INVOLVED IN apoptotic process (ortholog); cell adhesion molecule production (ortholog); cellular response to oxidative stress (ortholog); ASSOCIATED WITH aggressive periodontitis (ortholog); atopic dermatitis (ortholog); Bell's palsy (ortholog); FOUND IN cytoplasm (ortholog); cytosol (ortholog); extracellular region (ortholog) 7 7 7 98034551 98039602 + 45578764 45583516 + 45510450 45515448 + 16460575;22301074 100973085 A0A286QUP5;A0A2R9CCJ5;Q0ZQL2 MODEL JARIFH010000008;KX774455;XM_008968875 ASR87917;Q0ZQL2;XP_008967123 Q0ZQL2 CypA Cyclophilin A;Cyclosporin A-binding protein;PPIase A;Peptidyl-prolyl cis-trans isomerase A;Rotamase A protein-coding ENSPPAG00000040793 7 45578765 45605545 + 11672236 CACUL1 CDK2 associated cullin domain 1 ENCODES a protein that exhibits protein kinase binding (ortholog); INVOLVED IN G1/S transition of mitotic cell cycle (ortholog); positive regulation of cell population proliferation (ortholog); ASSOCIATED WITH Colorectal Neoplasms (ortholog); genetic disease (ortholog) 10 10 10 130547910 130623674 - 118677646 118753918 - 115252194 115330001 - 22301074 100973120 MODEL JARIFH010000011;XM_003825642;XM_034931591 XP_003825690 CDK2-associated and cullin domain-containing protein 1 protein-coding 11672249 LOC100974421 keratin, type I cytoskeletal 19-like 4 4 4 108264996 108265892 - 112943563 112953243 - 102376567 102386265 - 100974421 MODEL JARIFH010000005 keratin, type I cytoskeletal 19 pseudogene APPROVED pseudo 11672256 ZNF268 zinc finger protein 268 ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN cellular response to tumor necrosis factor (ortholog); positive regulation of non-canonical NF-kappaB signal transduction (ortholog); positive regulation of protein catabolic process (ortholog); ASSOCIATED WITH genetic disease (ortholog); FOUND IN cytoplasm (inferred); cytosol (inferred); nucleus (inferred) 12 12 12 141290401 141318255 + 135265029 135290457 + 130661530 130686086 + 30032202 100976221 A0A2R9A8R9;A0A2R9A8W7;A0A2R9A8X8;A0A2R9A8Y0;A0A2R9A9Z1;A0A2R9AA01;A0A2R9ADX1 MODEL JARIFH010000013;XM_008967343;XM_008967344;XM_008967345;XM_008967349;XM_034934949;XM_034934950;XM_034934952;XM_034934953;XM_034934954;XM_055096461;XM_055096462;XM_055096463;XM_055096465 XP_008965591;XP_008965592;XP_008965593;XP_008965597;XP_034790840;XP_034790843;XP_054952436;XP_054952437;XP_054952438;XP_054952440 A0A2R9A8R9 protein-coding ENSPPAG00000029987 12 135265137 135290457 + 11672282 FARSB phenylalanyl-tRNA synthetase subunit beta ENCODES a protein that exhibits aminoacyl-tRNA ligase activity (inferred); ATP binding (inferred); ligase activity (inferred); INVOLVED IN phenylalanyl-tRNA aminoacylation (inferred); protein heterotetramerization (inferred); translation (inferred); PARTICIPATES IN phenylketonuria pathway; tyrosinemia type II pathway; tyrosinemia type III pathway; ASSOCIATED WITH Aneurysm (ortholog); genetic disease (ortholog); INTERSTITIAL LUNG AND LIVER DISEASE (ortholog); FOUND IN phenylalanine-tRNA ligase complex (ortholog) 2B 2B 2B 125201208 125429414 - 228394238 228478345 - 109813000 109897159 - 22301074;30032202 100976688 A0A2R9BT35;A0A2R9C2A7 MODEL JARIFH010000003;XM_003818673;XM_034955263;XM_034955264;XM_034955265;XM_055109141;XM_055109142 XP_003818721;XP_034811154;XP_034811155;XP_054965116;XP_054965117 A0A2R9C2A7 phenylalanine--tRNA ligase beta subunit;phenylalanyl-tRNA synthetase beta subunit APPROVED protein-coding ENSPPAG00000039268 2B 228394238 228478345 - 11672303 CELF4 CUGBP Elav-like family member 4 ENCODES a protein that exhibits mRNA binding (inferred); nucleic acid binding (inferred); pre-mRNA binding (inferred); INVOLVED IN alternative mRNA splicing, via spliceosome (ortholog); excitatory postsynaptic potential (ortholog); in utero embryonic development (ortholog); ASSOCIATED WITH genetic disease (ortholog); intellectual disability (ortholog); myoepithelioma (ortholog); FOUND IN cytoplasm (inferred); nucleoplasm (inferred); nucleus (inferred) 18 18 18 40327510 40650933 - 34052355 34374624 - 30495149 30818358 - 30032202 100977779 A0A2R8ZJS4 MODEL JARIFH010000019;XM_003830215;XM_008955638;XM_008955642;XM_008955643;XM_008955644;XM_008955646;XM_008955647;XM_008955648;XM_008955649;XM_008955650;XM_008955654;XM_024926338;XM_024926339;XM_024926341;XM_024926342;XM_024926343;XM_024926344;XM_024926345;XM_024926346;XM_024926347;XM_024926349;XM_024926350;XM_024926351;XM_024926352;XM_024926353;XM_024926354;XM_024926355;XM_024926356;XM_024926358;XM_024926359;XM_024926360;XM_024926361;XM_024926362;XM_024926363;XM_024926364;XM_024926365;XM_024926366;XM_024926368;XM_034943489;XM_034943491;XM_034943492;XM_034943493;XM_034943494;XM_055102343;XM_055102344;XM_055102345;XM_055102346;XM_055102347;XM_055102348;XM_055102349;XM_055102350;XM_055102351;XM_055102352;XM_055102353;XM_055102354;XM_055102355;XM_055102356;XM_055102357;XM_055102358;XR_004667509;XR_004667510;XR_004667511;XR_004667512;XR_004667514;XR_004667515;XR_004667516 XP_003830263;XP_008953886;XP_008953890;XP_008953891;XP_008953894;XP_008953895;XP_008953896;XP_008953897;XP_008953898;XP_008953902;XP_024782109;XP_024782110;XP_024782111;XP_024782112;XP_024782113;XP_024782114;XP_024782115;XP_024782117;XP_024782118;XP_024782119;XP_024782120;XP_024782121;XP_024782122;XP_024782123;XP_024782124;XP_024782126;XP_024782127;XP_024782128;XP_024782129;XP_024782130;XP_024782131;XP_024782132;XP_024782136;XP_034799380;XP_054958318;XP_054958319;XP_054958320;XP_054958321;XP_054958322;XP_054958323;XP_054958324;XP_054958325;XP_054958326;XP_054958327;XP_054958328;XP_054958329;XP_054958330;XP_054958331;XP_054958332;XP_054958333 A0A2R8ZJS4 CUGBP, Elav-like family member 4 APPROVED protein-coding ENSPPAG00000020644 18 34068123 34374372 - 11672353 FBXO6 F-box protein 6 ENCODES a protein that exhibits carbohydrate binding (inferred); ubiquitin protein ligase activity (inferred); INVOLVED IN glycoprotein catabolic process (inferred); SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (inferred); ubiquitin-dependent ERAD pathway (inferred); ASSOCIATED WITH Charcot-Marie-Tooth disease type 2 (ortholog); chromosome 1p36 deletion syndrome (ortholog); Familial Atrial Fibrillation 6 (ortholog); FOUND IN cytoplasm (inferred); endoplasmic reticulum quality control compartment (inferred); SCF ubiquitin ligase complex (inferred) 1 1 1 215196499 215209566 - 11632724 11641286 + 10414856 10436406 + 22301074;30032202 100978399 A0A2R9BIE4 MODEL JARIFH010000001;XM_003822078;XM_003822079;XM_008975605;XM_008975607;XM_008975608;XM_008975611;XM_034955416;XM_034955424;XM_034955434;XM_034955442;XM_034955452;XM_034955459;XM_034955466;XM_034955474;XM_034955483;XM_034955491;XM_034955497;XM_034955506;XM_034955515;XM_034955523;XM_034955529 XP_034811307 A0A2R9BIE4 FBXO44 F-box only protein 44;F-box only protein 6;F-box protein 44 APPROVED protein-coding ENSPPAG00000029865;ENSPPAG00000037077 1;1;1 11643009;11643009;11632768 11654837;11654837;11640846 +;+;+ 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 ENCODES a protein that exhibits calcium-activated potassium channel activity (ortholog); identical protein binding (ortholog); large conductance calcium-activated potassium channel activity (ortholog); INVOLVED IN adult walking behavior (ortholog); blood vessel diameter maintenance (ortholog); chemical synaptic transmission (ortholog); ASSOCIATED WITH Alzheimer's disease (ortholog); autism spectrum disorder (ortholog); autistic disorder (ortholog); FOUND IN dendrite (ortholog); endoplasmic reticulum (ortholog); external side of plasma membrane (ortholog) 10 10 10 89024606 89791821 - 76053915 76820639 - 73391297 74158488 - 22301074;30032202 100978771 A0A2R9ALS8;A0A2R9ALT6;A0A2R9AQR2;A0A2R9AQW7;A0A2R9AT10;A0A2R9ATB5 MODEL JARIFH010000011;XM_014346490;XM_034930900;XM_034930901;XM_034930902;XM_034930903;XM_034930904;XM_034930905;XM_034930906;XM_034930907;XM_034930908;XM_034930910;XM_034930911;XM_034930912;XM_034930913;XM_034930914;XM_034930915;XM_034930916;XM_034930917;XM_034930918;XM_034930919;XM_034930920;XM_034930921;XM_034930922;XM_034930923;XM_034930924;XM_034930925;XM_034930926;XM_034930927;XM_034930928;XM_034930929;XM_034930930;XM_034930931;XM_034930932;XM_034930933;XM_034930934;XM_034930935;XM_034930936;XM_034930937;XM_034930938;XM_034930939;XM_034930940;XM_034930941;XM_034930942;XM_034930943;XM_034930944;XM_034930945;XM_034930946;XM_034930947;XM_034930948;XM_034930950;XM_055093037;XM_055093038;XM_055093039;XM_055093040;XM_055093041;XM_055093042;XM_055093044;XM_055093045;XM_055093046;XM_055093047;XM_055093048;XM_055093049;XM_055093050;XM_055093051;XR_008619958 XP_014201976;XP_034786793;XP_034786801;XP_034786808;XP_034786811;XP_034786812;XP_034786815;XP_034786816;XP_034786817;XP_034786818;XP_034786821;XP_034786822;XP_034786824;XP_034786825;XP_034786826;XP_034786828;XP_034786829;XP_034786831;XP_034786832;XP_034786834;XP_034786835;XP_034786836;XP_034786837;XP_034786838;XP_034786839;XP_034786841;XP_054949012;XP_054949013;XP_054949014;XP_054949015;XP_054949016;XP_054949017;XP_054949019;XP_054949020;XP_054949021;XP_054949022;XP_054949023;XP_054949024;XP_054949025;XP_054949026 A0A2R9AQR2 calcium-activated potassium channel subunit alpha-1;potassium large conductance calcium-activated channel, subfamily M, alpha member 1 protein-coding ENSPPAG00000031977 10 76062047 76820644 - 11672418 CPAMD8 C3 and PZP like alpha-2-macroglobulin domain containing 8 ENCODES a protein that exhibits endopeptidase inhibitor activity (inferred); peptidase inhibitor activity (inferred); serine-type endopeptidase inhibitor activity (inferred); INVOLVED IN eye development (ortholog); ASSOCIATED WITH anterior segment dysgenesis (ortholog); anterior segment dysgenesis 8 (ortholog); breast ductal carcinoma (ortholog); FOUND IN extracellular region (inferred); extracellular space (inferred) 19 19 19 20769084 20902931 - 17359377 17487782 - 16379956 16513841 - 22301074 100979227 A0A2R9BRK3;A0A2R9BRL2 MODEL JARIFH010000020;XM_003813600;XM_034944466;XM_034944467;XM_034944468;XM_034944469;XM_034944470 XP_003813648 A0A2R9BRK3 LOC100991740 C3 and PZP like, alpha-2-macroglobulin domain containing 8;C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 APPROVED protein-coding ENSPPAG00000037601 19 17359534 17487791 - 11672445 LOC100980025 putative G-protein coupled receptor GPR32P1 ENCODES a protein that exhibits G protein-coupled receptor activity (inferred); INVOLVED IN G protein-coupled receptor signaling pathway (inferred); signal transduction (inferred); ASSOCIATED WITH autism spectrum disorder (ortholog); genetic disease (ortholog); FOUND IN membrane (inferred); plasma membrane (inferred) 19 19 19 58746499 58749010 + 56621912 56623018 + 47722804 47724231 + 30032202 100980025 A0A2R9BX42 MODEL JARIFH010000020;XM_014342792 XP_014198278 A0A2R9BX42 GPR32 G protein-coupled receptor 32;probable G-protein coupled receptor 32 APPROVED protein-coding ENSPPAG00000038483 11672449 SLC22A17 solute carrier family 22 member 17 ENCODES a protein that exhibits transmembrane signaling receptor activity (ortholog); INVOLVED IN siderophore transport (ortholog); ASSOCIATED WITH Brain-Lung-Thyroid Syndrome (ortholog); genetic disease (ortholog); lysinuric protein intolerance (ortholog); FOUND IN organelle membrane (ortholog) 14 14 14 23994518 24001093 - 22260079 22266666 - 4165419 4172002 - 22301074 100980474 A0A2R9AAE2;A0A2R9AAE3;A0A2R9ABG7 MODEL JARIFH010000015;XM_003808092;XM_003808093;XM_034937301;XM_055097347 XP_034793192;XP_054953322 A0A2R9AAE2 protein-coding ENSPPAG00000030257 14 22260079 22266667 - 11672467 APOBEC2 apolipoprotein B mRNA editing enzyme catalytic subunit 2 ENCODES a protein that exhibits catalytic activity (inferred); cytidine deaminase activity (inferred); identical protein binding (inferred); INVOLVED IN cytidine to uridine editing (ortholog); mRNA modification (ortholog); ASSOCIATED WITH genetic disease (ortholog) 6 6 6 51418800 51432812 + 41950194 41963086 + 40641211 40652975 + 30032202 100980527 A0A2R9B5Q9 MODEL JARIFH010000007;XM_003833325 XP_003833373 A0A2R9B5Q9 C->U-editing enzyme APOBEC-2;probable C->U-editing enzyme APOBEC-2 protein-coding ENSPPAG00000035598 6 41950194 41963086 + 11672474 SEMA4B semaphorin 4B ENCODES a protein that exhibits semaphorin receptor binding (inferred); INVOLVED IN cell differentiation (inferred); nervous system development (inferred); ASSOCIATED WITH Bloom syndrome (ortholog); colorectal cancer (ortholog); D-2-hydroxyglutaric aciduria 2 (ortholog); FOUND IN glutamatergic synapse (ortholog); postsynaptic density membrane (ortholog) 15 15 15 83432586 83477430 + 88076399 88120729 + 68873927 68918792 + 30032202 100981129 A0A2R9BXZ1 MODEL JARIFH010000016;XM_003807724;XM_024925728;XM_034939413;XM_055098515 XP_003807772;XP_054954490 A0A2R9BXZ1 semaphorin-4B protein-coding ENSPPAG00000038630 15 88076399 88120729 + 11672498 ARHGEF12 Rho guanine nucleotide exchange factor 12 ENCODES a protein that exhibits G protein-coupled receptor binding (inferred); GTPase activator activity (inferred); guanyl-nucleotide exchange factor activity (inferred); INVOLVED IN G protein-coupled receptor signaling pathway (ortholog); regulation of blood pressure (ortholog); ASSOCIATED WITH CD3epsilon deficiency (ortholog); Chromosome 11, Partial Trisomy 11q (ortholog); Dwarfism (ortholog); FOUND IN cytoplasm (inferred); membrane (inferred) 11 11 11 122144058 122296653 + 119099035 119251522 + 115173575 115327040 + 22301074;30032202 100981550 A0A2R9AYK8;A0A2R9AZ06;A0A2R9B2F5 MODEL JARIFH010000012;XM_003819978;XM_003819979;XM_008973395;XM_008973396;XM_034933897;XM_055094994 XP_003820026;XP_003820027;XP_008971643;XP_008971644;XP_034789788;XP_054950969 A0A2R9AZ06 protein-coding ENSPPAG00000034100 11 119098903 119251522 + 11672548 FABP1 fatty acid binding protein 1 ENCODES a protein that exhibits bile acid binding (ortholog); fatty acid binding (ortholog); heterocyclic compound binding (ortholog); INVOLVED IN intestinal absorption (ortholog); long-chain fatty acid transport (ortholog); positive regulation of fatty acid beta-oxidation (ortholog); ASSOCIATED WITH acute kidney tubular necrosis (ortholog); Acute Liver Failure (ortholog); end stage renal disease (ortholog); FOUND IN apical cortex (ortholog); peroxisomal matrix (ortholog); protein-containing complex (ortholog) 2A 2A 2A 39134991 39182472 + 89165308 89170448 - 87256032 87303505 - 30032202 100982892 A0A2R9B589 MODEL JARIFH010000002;XM_003805854;XM_034953515 XP_003805902;XP_034809406 A0A2R9B589 fatty acid-binding protein, liver protein-coding ENSPPAG00000035506 2A 89165315 89170448 - 11672556 LOC100983103 surfactant-associated protein 3 ENCODES a protein that exhibits core promoter sequence-specific DNA binding (ortholog); DNA binding (ortholog); DNA-binding transcription activator activity, RNA polymerase II-specific (ortholog); INVOLVED IN cellular response to leptin stimulus (ortholog); circadian rhythm (ortholog); development of primary female sexual characteristics (ortholog); ASSOCIATED WITH Diaphragmatic Hernia (ortholog); FOUND IN nucleoplasm (ortholog); nucleus (ortholog) 14 14 14 37002629 37043203 - 35403557 35627438 - 17224870 17273252 - 100983103 A0A2R9AX04 MODEL JARIFH010000015;XM_034937456;XM_034937457;XM_034937458;XM_055097480;XR_004666151;XR_004666152;XR_004666153;XR_004666154;XR_004666155;XR_004666156;XR_004666157;XR_008620842;XR_008620845;XR_008954819;XR_008954820;XR_008954821;XR_008954822 XP_054953455 A0A2R9AX04 NKX2-1;SFTA3 NK2 homeobox 1;homeobox protein Nkx-2.1;surfactant associated 3;uncharacterized LOC100983103 APPROVED protein-coding ENSPPAG00000033395 14 35404127 35626722 - 11672561 LOC100983732 arginine--tRNA ligase, cytoplasmic-like 12 12 12 69312479 69313030 - 61431256 61432900 - 58813540 58814214 - 100983732 MODEL JARIFH010000013 pseudo 11672562 PRR5L proline rich 5 like ENCODES a protein that exhibits ubiquitin protein ligase binding (inferred); INVOLVED IN phosphatidylinositol 3-kinase/protein kinase B signal transduction (ortholog); positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (ortholog); positive regulation of protein phosphorylation (ortholog); PARTICIPATES IN mTOR signaling pathway; ASSOCIATED WITH genetic disease (ortholog); intellectual disability (ortholog); FOUND IN TORC2 complex (inferred) 11 11 11 38521756 38691440 + 36143905 36311659 + 36269291 36438954 + 30032202 100984533 A0A2R9CE88;A0A2R9CMG1 MODEL JARIFH010000012;XM_003830359;XM_008955834;XM_008955835;XM_014346761;XM_034932406;XM_034932407;XM_034932408;XM_055094278;XM_055094280;XM_055094281;XM_057299141 XP_003830407;XP_008954082;XP_008954083;XP_034788298;XP_054950253;XP_054950255;XP_054950256;XP_057155124 A0A2R9CMG1 proline-rich protein 5-like protein-coding ENSPPAG00000042360 11 36223385 36311659 + 11672588 CMTM3 CKLF like MARVEL transmembrane domain containing 3 INVOLVED IN blastocyst hatching (ortholog); positive regulation of B cell receptor signaling pathway (ortholog); ASSOCIATED WITH autosomal dominant dyskeratosis congenita 6 (ortholog); cataract 5 multiple types (ortholog); Experimental Liver Cirrhosis (ortholog); FOUND IN cytoplasm (ortholog); cytoplasmic vesicle (ortholog); cytosol (ortholog) 16 16 16 82016178 82026869 + 66022704 66031525 + 46920341 46930047 + 22301074 100984827 A0A2R9BN62;A0A2R9BN67;A0A2R9BN86;A0A2R9BRR4;A0A2R9BX86 MODEL JARIFH010000017;XM_034940366;XM_034940367;XM_034940368;XM_057300046 XP_034796257;XP_034796258;XP_057156029 A0A2R9BN62 CKLF-like MARVEL transmembrane domain-containing protein 3 protein-coding ENSPPAG00000038495 16 66022698 66031525 + 11672597 GDPD5 glycerophosphodiester phosphodiesterase domain containing 5 ENCODES a protein that exhibits glycerophosphocholine phosphodiesterase activity (ortholog); INVOLVED IN cerebral cortex neuron differentiation (ortholog); negative regulation of Notch signaling pathway (ortholog); neuron differentiation (ortholog); ASSOCIATED WITH 3-methylglutaconic aciduria type 7b (ortholog); genetic disease (ortholog); intellectual disability (ortholog); FOUND IN axon (ortholog); neuronal cell body (ortholog); perinuclear endoplasmic reticulum (ortholog) 11 11 11 77407564 77499367 - 73796347 73885996 - 70494185 70585921 - 22301074;30032202 100985084 A0A2R9CC91;A0A2R9CC92;A0A2R9CC96;A0A2R9CEX0 MODEL JARIFH010000012;XM_003814699;XM_003814700;XM_014346924;XM_034933385;XM_034933386;XM_034933387;XM_034933388;XM_034933389;XM_034933391;XM_055094685;XM_055094686;XM_055094687;XM_055094689;XM_055094690 XP_003814748;XP_034789276;XP_034789278;XP_034789279;XP_034789280;XP_054950660;XP_054950661;XP_054950662;XP_054950664;XP_054950665 A0A2R9CC92 glycerophosphodiester phosphodiesterase domain-containing protein 5 protein-coding ENSPPAG00000042473 11 73796347 73885996 - 11672632 EFCAB10 EF-hand calcium binding domain 10 ENCODES a protein that exhibits calcium ion binding (inferred); ASSOCIATED WITH hereditary breast ovarian cancer syndrome (ortholog); Hereditary Neoplastic Syndromes (ortholog); Infantile Liver Failure Syndrome 3 (ortholog) 7 7 7 190685805 190702289 - 110285036 110301514 - 97556418 97571987 - 22301074 100985847 A0A2R9BFU2;A0A2R9BGU8;A0A2R9BJM6;A0A2R9BPD7 MODEL JARIFH010000008;XM_008963550 XP_008961798 A0A2R9BFU2 LOC100985847 EF-hand calcium-binding domain-containing protein 10 APPROVED protein-coding ENSPPAG00000037288 7 110285036 110301501 - 11672668 NF1 neurofibromin 1 ENCODES a protein that exhibits microtubule binding (ortholog); syndecan binding (ortholog); INVOLVED IN actin cytoskeleton organization (ortholog); adrenal gland development (ortholog); amygdala development (ortholog); PARTICIPATES IN forkhead class A signaling pathway; syndecan signaling pathway; ASSOCIATED WITH acute monocytic leukemia (ortholog); acute myeloid leukemia (ortholog); adenoma (ortholog); FOUND IN axon (ortholog); glutamatergic synapse (ortholog); nucleus (ortholog) 17 17 17 34986857 35265533 - 26160857 26439295 - 25425081 25703689 - 22301074 100988101 A0A2R9ABV2;A0A2R9ABV7;A0A2R9AHN8;A0A2R9AHP8 MODEL JARIFH010000018;XM_003811979;XM_003811980;XM_008964354;XM_008964355;XM_008964356;XM_034943230;XM_034943231;XM_034943232;XM_034943233;XM_034943235;XM_055101319;XM_055101320;XM_055101321;XM_055101322;XM_055101323;XM_055101324;XM_055101325;XM_055101326;XM_055101327;XM_055101328;XM_055101329 XP_003812027;XP_003812028;XP_008962603;XP_008962604;XP_034799121;XP_034799122;XP_054957294;XP_054957295;XP_054957296;XP_054957297;XP_054957298;XP_054957299;XP_054957300;XP_054957301;XP_054957302;XP_054957303;XP_054957304 A0A2R9ABV2 neurofibromin protein-coding ENSPPAG00000030406 17 26160855 26439295 - 11672743 ADPGK ADP dependent glucokinase ENCODES a protein that exhibits ADP-specific glucokinase activity (inferred); phosphotransferase activity, alcohol group as acceptor (inferred); INVOLVED IN glucose metabolic process (ortholog); ASSOCIATED WITH Bardet-Biedl syndrome (ortholog); Bloom syndrome (ortholog); Brugada syndrome 8 (ortholog); FOUND IN endoplasmic reticulum (ortholog) 15 15 15 66147558 66180009 - 70429956 70462444 - 51669462 51702439 - 30032202 100988588 A0A2R9BNG2;A0A2R9BS27;A0A2R9BS32 MODEL JARIFH010000016;XM_003818567;XM_008971902;XM_034939089;XM_034939090;XM_034939091;XM_034939092 XP_003818615;XP_008970150;XP_034794980;XP_034794982;XP_034794983 A0A2R9BS27 ADP-dependent glucokinase protein-coding ENSPPAG00000038547 15 70429956 70462444 - 11672756 WDR12 WD repeat domain 12 ENCODES a protein that exhibits ribonucleoprotein complex binding (inferred); INVOLVED IN Notch signaling pathway (ortholog); regulation of cell cycle (ortholog); ASSOCIATED WITH autoimmune lymphoproliferative syndrome type 2B (ortholog); Autoimmune Lymphoproliferative Syndrome, Type V (ortholog); common variable immunodeficiency 1 (ortholog); FOUND IN PeBoW complex (ortholog) 2B 2B 2B 105496501 105530558 - 208260696 208292604 - 90112037 90145520 - 22301074;30032202 100989150 A0A2R9AUH0;A0A2R9AUR9 MODEL JARIFH010000003;XM_003820771 XP_003820819 A0A2R9AUH0 ribosome biogenesis protein WDR12 protein-coding ENSPPAG00000033697 2B 208260696 208291783 - 11672773 LOC100989568 26S proteasome regulatory subunit 4-like 7 7 7 25544095 25545949 + 141173212 141174548 + 128679603 128681374 + 100989568 MODEL JARIFH010000008 26S protease regulatory subunit 4 pseudogene;26S proteasome regulatory subunit 4 pseudogene APPROVED pseudo 11672774 CACNG8 calcium voltage-gated channel auxiliary subunit gamma 8 ENCODES a protein that exhibits calcium channel regulator activity (ortholog); ionotropic glutamate receptor binding (ortholog); protein phosphatase 2B binding (ortholog); INVOLVED IN positive regulation of AMPA receptor activity (ortholog); regulation of postsynaptic membrane neurotransmitter receptor levels (ortholog); ASSOCIATED WITH antisocial personality disorder (ortholog); dilated cardiomyopathy (ortholog); genetic disease (ortholog); FOUND IN AMPA glutamate receptor complex (ortholog); dendrite membrane (ortholog); glutamatergic synapse (ortholog) 19 19 19 61892343 61918671 + 59745315 59772864 + 50899256 50920028 + 22301074;30032202 100990603 MODEL JARIFH010000020;XM_034944733;XM_055102870 XP_054958845 voltage-dependent calcium channel gamma-8 subunit protein-coding 11672783 NALCN sodium leak channel, non-selective ENCODES a protein that exhibits leak channel activity (ortholog); INVOLVED IN calcium ion transmembrane transport (ortholog); potassium ion transmembrane transport (ortholog); regulation of resting membrane potential (ortholog); ASSOCIATED WITH Anal Atresia, Hypospadias, and Penoscrotal Inversion (ortholog); autism spectrum disorder (ortholog); congenital limbs-face contractures-hypotonia-developmental delay syndrome (ortholog); FOUND IN membrane (inferred); plasma membrane (inferred) 13 13 13 101239557 101597900 - 101352535 101710917 - 82215094 82573501 - 22301074;30032202 100991945 A0A2R9B6Y1;A0A2R9BE80;A0A2R9BE86 MODEL JARIFH010000014;XM_034936921;XM_034936922;XM_034936923;XM_034936924;XM_034936925;XM_034936926;XM_034936927;XM_034936928;XM_034936929;XM_034936930;XM_034936931;XM_034936932;XM_055096974 XP_034792813;XP_034792814;XP_034792815;XP_034792821;XP_034792822;XP_054952949 A0A2R9BE80 sodium leak channel NALCN protein-coding ENSPPAG00000035645 13 101354054 101693223 - 11672836 FAM32A family with sequence similarity 32 member A ASSOCIATED WITH genetic disease (ortholog); FOUND IN nucleolus (inferred); nucleoplasm (inferred) 19 19 19 20060537 20067239 + 16653456 16660106 + 15672703 15679404 + 30032202 100992396 A0A2R8ZRV6;A0A2R8ZRV8 MODEL JARIFH010000020;XM_003813561;XM_034944766 XP_003813609 A0A2R8ZRV6 protein-coding ENSPPAG00000025422 19 16653456 16660106 + 11672845 FBXO39 F-box protein 39 ASSOCIATED WITH common variable immunodeficiency (ortholog); congenital myasthenic syndrome 2A (ortholog); developmental and epileptic encephalopathy 25 (ortholog) 17 17 17 16335235 16347135 + 6795514 6806969 + 6806312 6818183 + 22301074 100994692 A0A2R9A8P6 MODEL JARIFH010000018;XM_003810131 XP_003810179 A0A2R9A8P6 F-box only protein 39 protein-coding ENSPPAG00000029992 17 6795514 6806969 + 11672853 RAB2A RAB2A, member RAS oncogene family ENCODES a protein that exhibits GTP binding (ortholog); INVOLVED IN endoplasmic reticulum to Golgi vesicle-mediated transport (ortholog); PARTICIPATES IN insulin responsive facilitative sugar transporter mediated glucose transport pathway; Rab family mediated signaling pathway; ASSOCIATED WITH CHARGE syndrome (ortholog); genetic disease (ortholog); polycystic ovary syndrome (ortholog); FOUND IN endoplasmic reticulum membrane (ortholog); Golgi membrane (ortholog); membrane (ortholog) 8 8 8 51827243 51929882 + 58630403 58698710 + 56931782 57034343 + 22301074;30032202 100995349 A0A2R9AEF3;A0A2R9AFC4;A0A2R9AFC8;A0A2R9AJ99;A0A2R9AKY4 MODEL JARIFH010000009;XM_034966125 XP_034822016 A0A2R9AFC8 ras-related protein Rab-2A protein-coding ENSPPAG00000030918 8 58633850 58698710 + 11672865 ZNF655 zinc finger protein 655 INVOLVED IN negative regulation of G1/S transition of mitotic cell cycle (inferred); regulation of DNA-templated transcription (inferred); ASSOCIATED WITH genetic disease (ortholog); pleomorphic xanthoastrocytoma (ortholog); FOUND IN cytoplasm (inferred); nucleolus (inferred); nucleus (inferred) 7 7 7 165680613 165698403 + 105033053 105051724 + 91531547 91549581 + 22301074 100995865 A0A2R9C768;A0A2R9C7A6;A0A2R9C7B9;A0A2R9C7P9;A0A2R9C9Y2;A0A2R9CA32;A0A2R9CHV3 MODEL JARIFH010000008;XM_008968714;XM_008968715;XM_008968717;XM_008968718;XM_008968722;XM_008968723;XM_008968724;XM_008968725;XM_034964527;XM_034964528;XM_057302718;XM_057302719 XP_008966962;XP_008966963;XP_008966965;XP_008966966;XP_008966970;XP_008966972;XP_034820418;XP_034820419;XP_057158701;XP_057158702 A0A2R9C9Y2 protein-coding ENSPPAG00000041610 7 105033721 105051724 + 11672893 ZNF670 zinc finger protein 670 ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN cellular lipid metabolic process (ortholog); lipid metabolic process (ortholog); ASSOCIATED WITH amenorrhea (ortholog); developmental and epileptic encephalopathy 54 (ortholog); gastrointestinal stromal tumor (ortholog) 1 1 1 2250044 2295851 + 228129902 228171119 - 222673657 222715207 - 30032202 103785523 A0A2R9CAD1 MODEL JARIFH010000001;XM_008968308;XM_034950310;XM_034950314;XM_055093714;XM_055093750 XP_008966556;XP_034806201;XP_034806205;XP_054949689;XP_054949725 A0A2R9CAD1 protein-coding ENSPPAG00000042174 1 228129902 228171119 - 11672905 LOC106633877 small ubiquitin-related modifier 1-like 1 1 1 80535847 80536619 - 148105699 148106690 + 144383779 144384564 + 106633877 MODEL JARIFH010000001 small ubiquitin-related modifier 1 pseudogene APPROVED pseudo 11672906 LOC106635447 uncharacterized LOC106635447 13 13 13 89150516 89395189 + 89598048 89608612 + 70195632 70440302 + 106635447 MODEL JARIFH010000014;XR_001338772;XR_004665977;XR_008620682;XR_008620683;XR_008620684;XR_008954719 ncrna 11672911 WWC2 WW and C2 domain containing 2 ENCODES a protein that exhibits kinase binding (inferred); molecular adaptor activity (inferred); INVOLVED IN negative regulation of hippo signaling (inferred); negative regulation of organ growth (inferred); negative regulation of transcription by RNA polymerase II (inferred); ASSOCIATED WITH genetic disease (ortholog); long QT syndrome (ortholog); FOUND IN cytosol (inferred) 4 4 4 181196720 181415840 + 187597081 187721702 + 175280079 175495156 + 30032202 100968290 A0A2R9BXN5 MODEL JARIFH010000005;XM_034959460;XM_034959461;XM_034959462 XP_034815351;XP_034815352 A0A2R9BXN5 protein-coding ENSPPAG00000040062 4 187597081 187721702 + 11672937 TRERF1 transcriptional regulating factor 1 ENCODES a protein that exhibits nuclear progesterone receptor binding (ortholog); nuclear receptor coactivator activity (ortholog); transcription coactivator activity (ortholog); INVOLVED IN cellular response to progesterone stimulus (ortholog); positive regulation of DNA-templated transcription (ortholog); positive regulation of transcription by RNA polymerase II (ortholog); ASSOCIATED WITH Breast Neoplasms (ortholog); genetic disease (ortholog); infantile Refsum disease (ortholog); FOUND IN cytosol (ortholog); fibrillar center (ortholog); nucleoplasm (ortholog) 6 6 6 52594147 52818245 - 43112581 43339228 - 41813074 42040373 - 30032202 100968700 A0A2R9AND3;A0A2R9AP10;A0A2R9AP15 MODEL JARIFH010000007;XM_008958784;XM_008958785;XM_008958786;XM_008958788;XM_008958789;XM_014345378;XM_034962096;XM_034962097;XM_034962098;XM_034962099;XM_055113603;XM_055113604;XM_055113605;XM_055113606 XP_008957032;XP_008957033;XP_008957037;XP_014200864;XP_034817988;XP_034817989;XP_034817990;XP_054969578;XP_054969579;XP_054969580;XP_054969581 A0A2R9AP10 transcriptional-regulating factor 1 protein-coding ENSPPAG00000032564 6 43112170 43156872 - 11672994 SEH1L SEH1 like nucleoporin ENCODES a protein that exhibits structural molecule activity (inferred); INVOLVED IN defense response to Gram-positive bacterium (ortholog); PARTICIPATES IN mRNA nuclear export pathway; ASSOCIATED WITH chromosome 18p deletion syndrome (ortholog); genetic disease (ortholog); intellectual disability (ortholog); FOUND IN kinetochore (ortholog) 18 18 18 10755056 10794196 - 16464446 16500693 - 1342928 1379719 - 22301074;30032202 100970439 A0A2R8ZD69 MODEL JARIFH010000019;XM_003817881;XM_003817882 XP_003817929;XP_003817930 A0A2R8ZD69 SEH1-like;nucleoporin SEH1 protein-coding ENSPPAG00000006139 18 16464446 16500693 - 11673013 ITGB8 integrin subunit beta 8 ENCODES a protein that exhibits signaling receptor binding (ortholog); INVOLVED IN cell-matrix adhesion (ortholog); ganglioside metabolic process (ortholog); hard palate development (ortholog); PARTICIPATES IN integrin mediated signaling pathway; ASSOCIATED WITH COVID-19 (ortholog); endometriosis (ortholog); Familial Prostate Cancer (ortholog); FOUND IN integrin alphav-beta8 complex (ortholog) 7 7 7 73523421 73608644 + 20336031 20415666 + 21019917 21105143 + 30032202 100970723 A0A2R9CNH5 MODEL JARIFH010000008;XM_008978730;XM_034963776;XM_055115750 XP_008976978;XP_034819667;XP_054971725 A0A2R9CNH5 LOC103787176 integrin beta-8;uncharacterized LOC103787176 PROVISIONAL protein-coding ENSPPAG00000043938 7 20336031 20415666 + 11673031 TAF8 TATA-box binding protein associated factor 8 ENCODES a protein that exhibits protein heterodimerization activity (inferred); INVOLVED IN DNA-templated transcription open complex formation (ortholog); inner cell mass cell proliferation (ortholog); maintenance of protein location in nucleus (ortholog); PARTICIPATES IN RNA polymerase II transcription initiation pathway; ASSOCIATED WITH genetic disease (ortholog); infantile Refsum disease (ortholog); NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY (ortholog); FOUND IN nucleoplasm (ortholog); perinuclear region of cytoplasm (ortholog); transcription factor TFIID complex (ortholog) 6 6 6 52408981 52450771 + 42933107 42978368 + 41631483 41672988 + 22301074;30032202 100971225 A0A2R8Z7P7;A0A2R8Z7Q1;A0A2R8Z7R1;A0A2R8Z7T2;A0A2R8ZBS4 MODEL JARIFH010000007;XM_003833300;XM_008958794;XM_034962091;XM_055113598;XM_055113599;XR_004671976 XP_003833348;XP_008957042;XP_054969573;XP_054969574 A0A2R8Z7T2 transcription initiation factor TFIID subunit 8 protein-coding ENSPPAG00000003755 6 42933107 42978271 + 11673050 CLEC6A C-type lectin domain containing 6A ENCODES a protein that exhibits calcium ion binding (inferred); carbohydrate binding (inferred); mannose binding (inferred); INVOLVED IN positive regulation of peptidyl-tyrosine phosphorylation (ortholog); ASSOCIATED WITH developmental and epileptic encephalopathy 21 (ortholog); genetic disease (ortholog); Hyperphosphatemic Familial Tumoral Calcinosis 1 (ortholog); FOUND IN plasma membrane (ortholog) 12 12 12 13975866 13999272 + 8752778 8775738 + 8537766 8560736 + 100971951 A0A2R8ZZN7 MODEL JARIFH010000013;XM_024931200;XM_055095354 XP_054951329 A0A2R8ZZN7 C-type lectin domain family 6 member A APPROVED protein-coding ENSPPAG00000028446 12 8752778 8775738 + 11673060 LOC100972000 protein PIMREG-like 4 4 4 103904981 103905848 - 108604958 108605825 - 97992274 97993141 - 100972000 MODEL JARIFH010000005 APPROVED pseudo 11673061 RPL31 ribosomal protein L31 ENCODES a protein that exhibits structural constituent of ribosome (inferred); INVOLVED IN cytoplasmic translation (inferred); translation (inferred); PARTICIPATES IN ribosome biogenesis pathway; translation pathway; ASSOCIATED WITH Breast Neoplasms (ortholog); genetic disease (ortholog); FOUND IN cytoplasm (ortholog); cytoplasmic side of rough endoplasmic reticulum membrane (ortholog); cytosolic large ribosomal subunit (ortholog) 2A 2A 27208963 27226498 - 101978288 101996064 + 22301074;30032202 100972017 A0A2R8Z954;A0A2R8ZRE4;A0A2R8ZSL0;A0A2R8ZX81;A0A2R9A0X6 MODEL JARIFH010000002;XM_003815772;XM_003815773;XM_024927563 XP_003815820;XP_003815821 A0A2R8Z954;A0A2R8ZX81 60S ribosomal protein L31 protein-coding ENSPPAG00000006764;ENSPPAG00000026810;ENSPPAG00000028653 2A 101978759 101996058 + 11673073 NR2E1 nuclear receptor subfamily 2 group E member 1 ENCODES a protein that exhibits DNA binding (inferred); DNA-binding transcription activator activity, RNA polymerase II-specific (inferred); DNA-binding transcription factor activity (inferred); INVOLVED IN aggressive behavior (ortholog); amygdala development (ortholog); angiogenesis (ortholog); ASSOCIATED WITH Charcot-Marie-Tooth disease type 4 (ortholog); genetic disease (ortholog); FOUND IN nucleoplasm (inferred); nucleus (inferred) 6 6 6 126061903 126084022 + 109830458 109852779 + 105965478 105988213 + 22301074;30032202 100972634 A0A2R9BUM6;A1YGC6;A1YGC7;A1YGC8;A1YGC9 MODEL DQ977257;JARIFH010000007;XM_003824329;XM_034962658 ABM54351;ABM54352;ABM54353;ABM54354;XP_003824377;XP_034818549 A0A2R9BUM6 protein-coding ENSPPAG00000038954 6 109831223 109851436 + 11673086 IRF2BP2 interferon regulatory factor 2 binding protein 2 ENCODES a protein that exhibits transcription corepressor activity (ortholog); INVOLVED IN immature B cell differentiation (ortholog); negative regulation of transcription by RNA polymerase II (ortholog); ASSOCIATED WITH acute promyelocytic leukemia (ortholog); common variable immunodeficiency 14 (ortholog); gastrointestinal stromal tumor (ortholog); FOUND IN nucleoplasm (ortholog); nucleus (ortholog) 1 1 1 14801899 14807596 + 215163887 215168637 - 210143516 210148878 - 30032202 100973341 MODEL JARIFH010000001;XM_034949292;XM_034949298 XP_034805183;XP_034805189 interferon regulatory factor 2-binding protein 2 protein-coding 11673099 DNAJA2 DnaJ heat shock protein family (Hsp40) member A2 ENCODES a protein that exhibits ATP binding (inferred); ATPase activator activity (inferred); heat shock protein binding (inferred); INVOLVED IN carbon tetrachloride metabolic process (ortholog); PARTICIPATES IN androgen signaling pathway; cortisol signaling pathway; estrogen signaling pathway; ASSOCIATED WITH genetic disease (ortholog); glycogen storage disease IXb (ortholog); liver disease (ortholog); FOUND IN cytosol (inferred); membrane (inferred) 16 16 16 62322325 62341277 - 46113238 46130028 - 27223414 27240726 - 22301074;30032202 100975674 A0A2R8ZGS7 MODEL JARIFH010000017;XM_003819793 XP_003819841 A0A2R8ZGS7 dnaJ homolog subfamily A member 2 protein-coding ENSPPAG00000012449 16 46113088 46130028 - 11673112 CYRIA CYFIP related Rac1 interactor A ENCODES a protein that exhibits small GTPase binding (inferred); INVOLVED IN regulation of actin filament polymerization (inferred); ASSOCIATED WITH Experimental Liver Cirrhosis (ortholog); genetic disease (ortholog); optic atrophy (ortholog); FOUND IN membrane (inferred) 2A 2A 2A 109872697 109982420 + 16660464 16728797 - 16532230 16642397 - 22301074;30032202 100976528 A0A2R9C766 MODEL JARIFH010000002;XM_008952334;XM_034952647;XM_034952648 XP_034808538;XP_034808539 A0A2R9C766 FAM49A CYFIP-related Rac1 interactor A;family with sequence similarity 49 member A APPROVED protein-coding ENSPPAG00000041134 2A 16660469 16728797 - 11673127 COL18A1 collagen type XVIII alpha 1 chain ENCODES a protein that exhibits identical protein binding (ortholog); INVOLVED IN angiogenesis (ortholog); blood vessel endothelial cell migration (ortholog); endothelial cell apoptotic process (ortholog); PARTICIPATES IN forkhead class A signaling pathway; ASSOCIATED WITH angiosarcoma (ortholog); angle-closure glaucoma (ortholog); autistic disorder (ortholog); FOUND IN basement membrane (ortholog); extracellular space (ortholog) 21 21 21 36343211 36459037 + 45046791 45106225 + 31720358 31834470 + 22301074;30032202 100977172 MODEL JARIFH010000022;XM_034947942;XM_034947943;XM_034947944;XM_034947945;XM_034947946;XM_034947947;XM_034947948;XM_034947949;XM_034947950;XM_034947951;XM_055105293;XM_055105294 XP_034803833;XP_034803834;XP_034803837;XP_034803838;XP_034803839;XP_034803841;XP_034803842;XP_054961268;XP_054961269 collagen alpha-1(XVIII) chain protein-coding 11673169 MAP7D3 MAP7 domain containing 3 ENCODES a protein that exhibits microtubule binding (inferred); tubulin binding (inferred); INVOLVED IN microtubule cytoskeleton organization (inferred); microtubule polymerization (inferred); ASSOCIATED WITH autistic disorder (ortholog); CD40 ligand deficiency (ortholog); Christianson syndrome (ortholog); FOUND IN microtubule cytoskeleton (inferred) X X X 135631050 135668016 - 135605184 135637238 - 125337678 125375182 - 22301074;30032202 100977534 A0A2R9AQI6;A0A2R9AQK5;A0A2R9AXA6 MODEL JARIFH010000024;XM_034949840;XM_034949841;XM_034949842;XR_004668779 XP_034805731;XP_034805732;XP_034805733 A0A2R9AQI6 MAP7 domain-containing protein 3 protein-coding ENSPPAG00000033016 X 135605208 135646956 - 11673195 LOC100978367 centrosomal protein CEP57L1-like ENCODES a protein that exhibits gamma-tubulin binding (inferred); identical protein binding (inferred); microtubule binding (inferred); FOUND IN cytoplasm (inferred) 10 10 10 82549237 82554689 + 69392366 69393592 + 66864870 66866222 + 22301074;30032202 100978367 A0A2R9AVT5 MODEL JARIFH010000011;XM_034931750;XM_055092942 XP_054948917 centrosomal protein CEP57L1 pseudogene APPROVED protein-coding ENSPPAG00000033857 11673198 TMEM9B TMEM9 domain family member B INVOLVED IN positive regulation of canonical NF-kappaB signal transduction (ortholog); ASSOCIATED WITH genetic disease (ortholog); FOUND IN early endosome membrane (inferred); lysosomal membrane (inferred); membrane (inferred) 11 11 11 11341149 11361854 - 8817553 8837856 - 9076499 9097004 - 22301074;30032202 100978485 A0A2R9A3N4 MODEL JARIFH010000012;XM_003818135;XM_008971400;XM_008971401;XM_034932111;XM_055094085 XP_003818183;XP_008969648;XP_008969649;XP_054950060 A0A2R9A3N4 transmembrane protein 9B protein-coding ENSPPAG00000029153 11 8817553 8837712 - 11673212 CDK10 cyclin dependent kinase 10 ENCODES a protein that exhibits ATP binding (inferred); cyclin-dependent protein kinase activity (inferred); cyclin-dependent protein serine/threonine kinase activity (inferred); INVOLVED IN positive regulation of MAPK cascade (ortholog); regulation of cell cycle (ortholog); regulation of cell cycle G2/M phase transition (ortholog); ASSOCIATED WITH Al Kaissi Syndrome (ortholog); autosomal recessive chronic granulomatous disease 4 (ortholog); Developmental Disabilities (ortholog); FOUND IN cyclin-dependent protein kinase holoenzyme complex (ortholog) 16 16 16 105423055 105433509 + 90109448 90120119 + 70445200 70455476 + 22301074;30032202 100979052 A0A2R9A2E9;A0A2R9A2F6;A0A2R9A3I8 MODEL JARIFH010000017;XM_003804975;XM_003804976;XM_003804977;XM_008965916;XM_008965928;XM_008965935;XM_034941149;XM_034941150;XM_034941151;XM_034941152;XM_034941153;XM_034941154;XM_055100549 XP_003805023;XP_003805024;XP_003805025;XP_008964164;XP_008964176;XP_008964183;XP_034797040;XP_034797041;XP_034797042;XP_034797045;XP_054956524 A0A2R9A3I8 cyclin-dependent kinase 10 protein-coding ENSPPAG00000028904 16 90109492 90119532 + 11673250 UCKL1 uridine-cytidine kinase 1 like 1 ENCODES a protein that exhibits ATP binding (inferred); cytidine kinase activity (inferred); kinase activity (inferred); INVOLVED IN CMP biosynthetic process (inferred); CTP salvage (inferred); organonitrogen compound metabolic process (inferred); PARTICIPATES IN beta-ureidopropionase deficiency pathway; dihydropyrimidinase deficiency pathway; mitochondrial neurogastrointestinal encephalopathy syndrome pathway; ASSOCIATED WITH developmental and epileptic encephalopathy (ortholog); developmental and epileptic encephalopathy 33 (ortholog); early infantile epileptic encephalopathy (ortholog) 20 20 69743884 69768578 - 61860084 61876202 - 22301074;30032202 100979657 A0A2R9BQC6;A0A2R9BQH5;A0A2R9BQJ1;A0A2R9BZJ9 MODEL JARIFH010000021;XM_003809929;XM_008962298;XM_008962299;XM_008962300;XM_008962301;XM_024926826;XM_024926827;XM_024926828;XM_024926829;XM_024926830;XM_034952135;XM_034952136;XM_034952137;XM_034952138;XM_034952139;XM_034952140;XR_610376 XP_003809977;XP_008960546;XP_008960547;XP_024782594;XP_024782596;XP_034808026;XP_034808027;XP_034808028;XP_034808029;XP_034808030;XP_034808031 A0A2R9BZJ9 uridine-cytidine kinase-like 1 protein-coding ENSPPAG00000038781 20 61860084 61876194 - 11673281 BBIP1 BBSome interacting protein 1 INVOLVED IN eating behavior (ortholog); receptor localization to non-motile cilium (ortholog); ASSOCIATED WITH Bardet-Biedl syndrome 1 (ortholog); Bardet-Biedl syndrome 18 (ortholog); Cornelia de Lange syndrome 3 (ortholog); FOUND IN BBSome (ortholog); ciliary membrane (ortholog); cytoplasm (ortholog) 10 10 10 122786047 122805722 - 110941118 110961596 - 107492010 107512605 - 22301074;30032202 100980238 A0A2R9AK62 MODEL JARIFH010000011;XM_003825586;XM_008950904;XM_008950906;XM_055093376;XM_055093377 XP_003825634;XP_008949152;XP_054949351;XP_054949352 A0A2R9AK62 BBSome-interacting protein 1 protein-coding ENSPPAG00000030874 11673304 LOC100980372 liver carboxylesterase 1-like ENCODES a protein that exhibits hydrolase activity (inferred) 16 16 16 71073471 71099089 + 55064571 55090931 + 35959706 35985233 + 30032202 100980372 A0A2R9AHU0 MODEL JARIFH010000017;XM_008963875;XM_008963876 XP_008962124 A0A2R9AHU0 protein-coding ENSPPAG00000031542 11673321 MAN1A1 mannosidase alpha class 1A member 1 ENCODES a protein that exhibits calcium ion binding (inferred); hydrolase activity (inferred); hydrolase activity, acting on glycosyl bonds (inferred); INVOLVED IN carbohydrate metabolic process (inferred); protein targeting to ER (inferred); ubiquitin-dependent ERAD pathway (inferred); ASSOCIATED WITH epilepsy (ortholog); genetic disease (ortholog); intellectual disability (ortholog); FOUND IN Golgi membrane (ortholog) 6 6 6 137087348 137260129 - 121125027 121297408 - 116984842 117157623 - 22301074;30032202 100983605 A0A2R9BFB5 MODEL JARIFH010000007;XM_024929141 XP_024784909 A0A2R9BFB5 mannosyl-oligosaccharide 1,2-alpha-mannosidase IA protein-coding ENSPPAG00000036994 6 121127656 121298196 - 11673339 RETN resistin ENCODES a protein that exhibits hormone activity (inferred); INVOLVED IN fat cell differentiation (ortholog); negative regulation of feeding behavior (ortholog); positive regulation of collagen metabolic process (ortholog); ASSOCIATED WITH acute promyelocytic leukemia (ortholog); Albuminuria (ortholog); chronic kidney disease (ortholog); FOUND IN extracellular space (ortholog) 19 19 19 11457254 11458754 + 7812942 7814909 + 6958536 6960032 + 22301074;30032202 100984045 A0A2R9B9Z9;A0A2R9BC99 MODEL JARIFH010000020;XM_003810015 XP_003810063 A0A2R9BC99 protein-coding ENSPPAG00000036077 19 7812942 7814909 + 11673347 LOC100984097 60S ribosomal protein L12-like 2A 2A 2A 41504908 41505469 - 86487045 86487606 + 84928632 84929133 + 100984097 MODEL JARIFH010000002 60S ribosomal protein L12 pseudogene APPROVED pseudo 11673348 FCGR1A Fc gamma receptor Ia ENCODES a protein that exhibits IgG binding (ortholog); IgG receptor activity (ortholog); leukotriene receptor binding (ortholog); INVOLVED IN antibody-dependent cellular cytotoxicity (ortholog); antigen processing and presentation of exogenous antigen (ortholog); antigen processing and presentation of exogenous peptide antigen via MHC class I (ortholog); ASSOCIATED WITH Acute Lung Injury (ortholog); calcinosis (ortholog); Experimental Arthritis (ortholog); FOUND IN external side of plasma membrane (ortholog) 1 1 1 99802796 99811784 - 128805436 128815227 + 125127073 125136911 + 30032202 100984157 A0A2R9BX04;A0A2R9C625 MODEL JARIFH010000001;XM_003808794;XM_008960896 XP_003808842;XP_008959144 A0A2R9BX04 LOC100984157 Fc fragment of IgG receptor Ia;high affinity immunoglobulin gamma Fc receptor I;putative high affinity immunoglobulin gamma Fc receptor IC APPROVED protein-coding ENSPPAG00000039866 1 128805484 128814220 + 11673368 MCOLN1 mucolipin TRP cation channel 1 ENCODES a protein that exhibits NAADP-sensitive calcium-release channel activity (ortholog); INVOLVED IN autophagosome maturation (ortholog); release of sequestered calcium ion into cytosol (ortholog); PARTICIPATES IN calcium transport pathway; calcium/calcium-mediated signaling pathway; ASSOCIATED WITH Boucher-Neuhauser syndrome (ortholog); Corneal Opacity (ortholog); familial hemophagocytic lymphohistiocytosis 5 (ortholog); FOUND IN intracellular vesicle (ortholog); lysosomal membrane (ortholog) 19 19 19 11312270 11323883 + 7671704 7683093 + 6813498 6825153 + 30032202 100985054 A0A2R9B983 MODEL JARIFH010000020;XM_003810017 XP_003810065 A0A2R9B983 mucolipin 1;mucolipin-1 APPROVED protein-coding ENSPPAG00000035546 19 7671704 7683093 + 11673386 F2R coagulation factor II thrombin receptor ENCODES a protein that exhibits G protein-coupled receptor activity (inferred); G-protein alpha-subunit binding (inferred); G-protein beta-subunit binding (inferred); INVOLVED IN blood coagulation (inferred); cell-cell junction maintenance (inferred); connective tissue replacement involved in inflammatory response wound healing (inferred); PARTICIPATES IN protease mediated signaling via protease-activated receptor 1; ASSOCIATED WITH Experimental Liver Cirrhosis (ortholog); Experimental Neoplasms (ortholog); fatty liver disease (ortholog); FOUND IN caveola (inferred); cell surface (inferred); early endosome (inferred) 5 5 5 36723130 36742780 - 39008288 39024188 - 38462521 38478882 - 22301074;30032202 100985711 A0A2R9B1X8;A0A2R9B5R1 MODEL JARIFH010000006;XM_003808379 XP_003808427 A0A2R9B5R1 F2RL1 F2R like trypsin receptor 1;proteinase-activated receptor 1;proteinase-activated receptor 2 APPROVED protein-coding ENSPPAG00000023823;ENSPPAG00000034950 5;5 39110170;39006331 39129688;39024265 -;- 11673392 NT5C 5', 3'-nucleotidase, cytosolic ENCODES a protein that exhibits identical protein binding (ortholog); IMP 5'-nucleotidase activity (ortholog); nucleotidase activity (ortholog); INVOLVED IN allantoin metabolic process (ortholog); amide catabolic process (ortholog); dCMP catabolic process (ortholog); PARTICIPATES IN gemcitabine pharmacodynamics pathway; gemcitabine pharmacokinetics pathway; lamivudine pharmacokinetics pathway; ASSOCIATED WITH Colorectal Neoplasms (ortholog); genetic disease (ortholog); FOUND IN cytoplasm (ortholog); cytosol (ortholog); nucleus (ortholog) 17 17 17 95992532 95994620 - 74632846 74634136 - 69077021 69078998 - 22301074;30032202 100988435 A0A2R9AVU7 MODEL JARIFH010000018;XM_034942859;XM_034942860 XP_034798750;XP_034798751 A0A2R9AVU7 5'(3')-deoxyribonucleotidase, cytosolic type protein-coding ENSPPAG00000032713 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta ENCODES a protein that exhibits ATP binding (ortholog); IkappaB kinase activity (ortholog); protein phosphatase binding (ortholog); INVOLVED IN B cell homeostasis (ortholog); neuron projection development (ortholog); positive regulation of cell population proliferation (ortholog); PARTICIPATES IN adenosine signaling pathway; FasL mediated signaling pathway; granulocyte-macrophage colony-stimulating factor signaling pathway; ASSOCIATED WITH Alzheimer's disease (ortholog); breast cancer (ortholog); Choroidal Neovascularization (ortholog); FOUND IN CD40 receptor complex (ortholog); cytoplasm (ortholog); cytoplasmic side of plasma membrane (ortholog) 8 8 8 36441096 36501335 + 38960594 39020971 + 41515613 41576229 + 22301074;30032202 100989390 A0A2R9AXR5;A0A2R9AXT3;A0A2R9AY23;A0A2R9AY29;A0A2R9AYH1;A0A2R9B1W6;A0A2R9B3R9 MODEL JARIFH010000009;XM_008976912;XM_008976914;XM_024929847;XM_034966007;XM_034966008;XM_034966010;XM_055116512;XM_055116513;XM_057303000 XP_008975160;XP_024785615;XP_034821898;XP_034821899;XP_034821901;XP_054972487;XP_054972488;XP_057158983 A0A2R9B3R9 inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta;inhibitor of nuclear factor kappa-B kinase subunit beta protein-coding ENSPPAG00000034251 8 38960594 39020971 + 11673433 LOC100992016 olfactory receptor 1G1 ENCODES a protein that exhibits G protein-coupled receptor activity (inferred); olfactory receptor activity (inferred); INVOLVED IN detection of chemical stimulus involved in sensory perception of smell (inferred); G protein-coupled receptor signaling pathway (inferred); signal transduction (inferred); FOUND IN membrane (inferred) 17 17 17 12668034 12677534 - 3116182 3117257 - 3115068 3119575 - 22301074 100992016 A0A2R8ZE01 MODEL JARIFH010000018;XM_034941287 XP_034797178 A0A2R8ZE01 protein-coding ENSPPAG00000013731 17 3116202 3117143 - 11673437 IBSP integrin binding sialoprotein ENCODES a protein that exhibits integrin binding (inferred); small molecule binding (inferred); INVOLVED IN bone mineralization (ortholog); cell adhesion (ortholog); cellular response to growth factor stimulus (ortholog); ASSOCIATED WITH autosomal dominant polycystic kidney disease (ortholog); Breast Neoplasms (ortholog); genetic disease (ortholog); FOUND IN extracellular space (ortholog); vesicle (ortholog) 4 4 4 86068641 86081881 + 90817072 90830021 + 80061960 80105560 + 22301074;30032202 100992477 A0A2R9BPW7 MODEL JARIFH010000005;XM_003811269 XP_003811317 A0A2R9BPW7 bone sialoprotein 2 protein-coding ENSPPAG00000038769 4 90817072 90830021 + 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 ENCODES a protein that exhibits ADP binding (ortholog); ankyrin binding (ortholog); ATP binding (ortholog); INVOLVED IN cellular response to mechanical stimulus (ortholog); heart contraction (ortholog); membrane hyperpolarization (ortholog); PARTICIPATES IN acebutolol pharmacodynamics pathway; adrenergic beta receptor agonist and beta-blocker pharmacodynamics pathway; alfentanil pharmacodynamics pathway; ASSOCIATED WITH adenoma (ortholog); adrenal cortical adenoma (ortholog); catecholaminergic polymorphic ventricular tachycardia 1 (ortholog); FOUND IN caveola (ortholog); endoplasmic reticulum (ortholog); endosome (ortholog) 1 1 1 108622152 108653661 + 121212161 121232876 - 86162401 86193883 - 22301074;30032202 100992562 A0A2R9BX94;A0A2R9BXA3;A0A2R9C0M5;A0A2R9C6X8;A0A2R9C713 MODEL JARIFH010000001;XM_034929861 XP_034785752 A0A2R9C0M5 sodium/potassium-transporting ATPase subunit alpha-1 protein-coding ENSPPAG00000039938 1 121212488 121243099 - 11673474 LOC100993012 olfactory receptor 8B12 ASSOCIATED WITH Chromosome 11, Partial Trisomy 11q (ortholog); Dwarfism (ortholog); genetic disease (ortholog) 11 11 11 126341335 126342267 - 123283591 123284523 - 119367996 119368928 - 22301074;30032202 100993012 MODEL JARIFH010000012;XM_008973356 XP_008971604 protein-coding 11673477 DNAJC9 DnaJ heat shock protein family (Hsp40) member C9 ENCODES a protein that exhibits heat shock protein binding (inferred); histone binding (inferred); protein-folding chaperone binding (inferred); INVOLVED IN nucleosome assembly (inferred); ASSOCIATED WITH genetic disease (ortholog); Joubert Syndrome 36 (ortholog); FOUND IN cytoplasm (inferred); cytosol (inferred); extracellular space (inferred) 10 10 10 85358441 85428593 - 72241056 72255339 - 69790478 69796518 - 30032202 100994029 A0A2R9C4M5 MODEL JARIFH010000011;XM_003815988;XM_055092994;XM_055092995;XM_055092997;XM_055092998;XM_055092999;XM_055093000 XP_003816036;XP_054948969;XP_054948970;XP_054948972;XP_054948973;XP_054948974;XP_054948975 A0A2R9C4M5 dnaJ homolog subfamily C member 9 protein-coding ENSPPAG00000041136 10 72248454 72255339 - 11673492 SDAD1 SDA1 domain containing 1 INVOLVED IN cellular response to leukemia inhibitory factor (ortholog); ASSOCIATED WITH genetic disease (ortholog); progressive myoclonus epilepsy (ortholog); FOUND IN nucleolus (inferred); nucleoplasm (inferred); nucleus (inferred) 4 4 4 54271832 54312910 + 54052727 54093549 + 48214836 48255872 + 30032202 100994501 A0A2R9BRQ5;A0A2R9BSC6;A0A2R9BV70 MODEL JARIFH010000005;XM_003832302;XM_003832303 XP_003832350;XP_003832351 A0A2R9BSC6 protein-coding ENSPPAG00000039003 4 54052727 54093544 + 11673523 NEIL3 nei like DNA glycosylase 3 ENCODES a protein that exhibits bubble DNA binding (inferred); catalytic activity (inferred); class I DNA-(apurinic or apyrimidinic site) endonuclease activity (inferred); INVOLVED IN base-excision repair (inferred); DNA damage response (inferred); DNA repair (inferred); ASSOCIATED WITH genetic disease (ortholog); hepatocellular carcinoma (ortholog); Neurodevelopmental Disorders (ortholog); FOUND IN nucleoplasm (inferred); nucleus (inferred) 4 4 4 175420093 175472838 + 181738838 181791757 + 169503942 169556654 + 22301074;30032202 100995915 A0A2R9BAV7 MODEL JARIFH010000005;XM_003823507;XM_008977087;XM_008977088;XM_034959453 XP_003823555;XP_008975335;XP_008975336;XP_034815344 A0A2R9BAV7 endonuclease 8-like 3;nei endonuclease VIII-like 3 protein-coding ENSPPAG00000035318 4 181738803 181795082 + 11673541 LOC103782806 uncharacterized LOC103782806 10 10 10 126195025 126217846 + 114334729 114356447 + 110904715 110926860 + 103782806 MODEL JARIFH010000011;XR_004664857;XR_004664858;XR_608315 ncrna 11673546 WFDC10B WAP four-disulfide core domain 10B ASSOCIATED WITH focal epilepsy (ortholog); genetic disease (ortholog); T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations (ortholog) 20 20 20 51413315 51414927 - 43106460 43108144 - 42017712 42019309 - 22301074 103782852 A0A2R9C678 MODEL JARIFH010000021;XM_008951362;XM_057300786 XP_057156769 A0A2R9C678 LOC103782852 uncharacterized LOC103782852;uncharacterized protein LOC103782852 APPROVED protein-coding ENSPPAG00000041406 20 43106633 43107784 - 11673552 LOC103782921 uncharacterized LOC103782921 1 1 1 210756195 210778827 + 15536449 15543785 - 14542134 14550687 - 103782921 MODEL JARIFH010000001;XR_003029133;XR_004670464;XR_004670465;XR_004670469;XR_008620968;XR_008620969;XR_008620970;XR_008620972;XR_608422 ncrna 11673562 LOC103784161 zinc finger protein SNAI1-like 2B 2B 2B 112445295 112448558 + 215469901 215470674 + 97066090 97067850 + 30032202 103784161 MODEL JARIFH010000003;XM_034955050 XP_034810941 zinc finger protein SNAI1 pseudogene APPROVED protein-coding 11673569 LOC103784696 zinc finger protein 583 ASSOCIATED WITH genetic disease (ortholog) 19 19 19 64483674 64505298 + 62224853 62245327 + 53429833 53451424 + 30032202 103784696 MODEL JARIFH010000020;XM_008962200;XM_008962201;XM_008962202;XM_034944613;XM_034944614 XP_008960448;XP_008960449;XP_008960450;XP_034800504;XP_034800505 ZNF583 APPROVED protein-coding 11673609 LOC100968977 uncharacterized LOC100968977 2A 2A 2A 18352730 18353418 + 111063362 111064050 - 92295470 92296158 + 100968977 MODEL JARIFH010000002;XM_008959192 XP_008957440 uncharacterized protein LOC100968977 protein-coding 11673612 IGFBP7 insulin like growth factor binding protein 7 ENCODES a protein that exhibits insulin-like growth factor binding (inferred); INVOLVED IN cellular response to hormone stimulus (ortholog); embryo implantation (ortholog); inner ear development (ortholog); ASSOCIATED WITH Breast Neoplasms (ortholog); Burns (ortholog); Experimental Liver Cirrhosis (ortholog); FOUND IN extracellular space (ortholog) 4 4 4 72870306 72949674 + 73382745 73462087 + 66808845 66888301 + 22301074;30032202 100969086 A0A2R9AR43 MODEL JARIFH010000005;XM_003806499 XP_003806547 A0A2R9AR43 insulin-like growth factor-binding protein 7 protein-coding ENSPPAG00000032246 4 73382745 73462087 + 11673621 SPATA12 spermatogenesis associated 12 ASSOCIATED WITH genetic disease (ortholog) 3 3 3 57043707 57058452 + 58204867 58220057 + 56993763 57009075 + 100969177 A0A2R8ZFC5 MODEL JARIFH010000004;XM_003818717;XM_008972061;XR_008625009;XR_008625010 XP_003818765;XP_008970309 A0A2R8ZFC5 spermatogenesis-associated protein 12 protein-coding ENSPPAG00000015691 3 58218319 58218891 + 11673633 APH1B aph-1 homolog B, gamma-secretase subunit ENCODES a protein that exhibits endopeptidase activator activity (inferred); protein-macromolecule adaptor activity (inferred); INVOLVED IN amyloid-beta formation (ortholog); locomotory behavior (ortholog); membrane protein ectodomain proteolysis (ortholog); PARTICIPATES IN Notch signaling pathway; syndecan signaling pathway; ASSOCIATED WITH Alzheimer's disease (ortholog); Bloom syndrome (ortholog); colorectal cancer (ortholog); FOUND IN synapse (ortholog) 15 15 15 56702155 56733766 + 60520031 60551599 + 42224593 42256202 + 22301074;30032202 100969832 A0A2R8ZDL1;A0A2R8ZDL5;A0A2R8ZE37 MODEL JARIFH010000016;XM_003827938 XP_003827986 A0A2R8ZDL1 anterior pharynx defective 1 homolog B;gamma-secretase subunit APH-1B protein-coding ENSPPAG00000013129 15 60520031 60551599 + 11673643 MFSD6 major facilitator superfamily domain containing 6 ENCODES a protein that exhibits MHC class I protein binding (ortholog); MHC class I receptor activity (ortholog); INVOLVED IN antigen processing and presentation of exogenous peptide antigen via MHC class I (ortholog); ASSOCIATED WITH genetic disease (ortholog); immunodeficiency 31B (ortholog); Neurodevelopmental Disorders (ortholog); FOUND IN plasma membrane (ortholog) 2B 2B 2B 93116997 93204589 + 195640484 195720548 + 77716691 77804302 + 30032202 100970017 A0A2R9BUG5 MODEL JARIFH010000003;XM_008950610;XM_034954680;XM_034954681;XM_034954682;XM_034954683;XM_055108886;XM_055108887 XP_034810571;XP_054964861;XP_054964862 A0A2R9BUG5 major facilitator superfamily domain-containing protein 6 protein-coding ENSPPAG00000039522 2B 195658295 195720548 + 11673660 UBN2 ubinuclein 2 ASSOCIATED WITH autism spectrum disorder (ortholog); genetic disease (ortholog); pleomorphic xanthoastrocytoma (ortholog); FOUND IN nucleoplasm (inferred) 7 7 7 28044251 28121335 + 143664282 143741053 + 131179164 131256244 + 30032202 100970984 A0A2R9A3Y4 MODEL JARIFH010000008;XM_034965067;XM_034965068;XM_034965069;XM_034965070;XM_034965071;XM_055115427 XP_034820958;XP_034820959;XP_034820960;XP_034820961;XP_034820962;XP_054971402 A0A2R9A3Y4 ubinuclein-2 protein-coding ENSPPAG00000028229 7 143664596 143730647 + 11673691 COPS7A COP9 signalosome subunit 7A INVOLVED IN protein deneddylation (ortholog); ASSOCIATED WITH Disease Progression (ortholog); genetic disease (ortholog); Hyperphosphatemic Familial Tumoral Calcinosis 1 (ortholog); FOUND IN COP9 signalosome (ortholog) 12 12 12 12284103 12292039 + 6770628 6778199 + 6856119 6863999 + 22301074;30032202 100971823 A0A2R8ZKI9;A0A2R8ZKJ7;A0A2R8ZKK0;A0A2R8ZLM4;A0A2R8ZND6;A0A2R8ZRN0;A0A2R8ZRN5 MODEL JARIFH010000013;XM_003820286;XM_003820287;XM_008973681;XM_034935242;XM_055095318;XM_055095319;XM_055095320;XM_055095321 XP_003820334;XP_008971929;XP_054951293;XP_054951294;XP_054951295;XP_054951296 A0A2R8ZKI9 COP9 constitutive photomorphogenic homolog subunit 7A;COP9 signalosome complex subunit 7a protein-coding ENSPPAG00000022715 12 6770675 6778199 + 11673722 MYORG myogenesis regulating glycosidase (putative) ENCODES a protein that exhibits hydrolase activity (inferred); hydrolase activity, acting on glycosyl bonds (inferred); hydrolase activity, hydrolyzing O-glycosyl compounds (inferred); INVOLVED IN positive regulation of insulin-like growth factor receptor signaling pathway (ortholog); positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (ortholog); skeletal muscle fiber development (ortholog); ASSOCIATED WITH acromesomelic dysplasia, Maroteaux type (ortholog); anauxetic dysplasia (ortholog); distal arthrogryposis type 1A (ortholog); FOUND IN endoplasmic reticulum membrane (inferred); membrane (inferred); nuclear membrane (inferred) 9 9 9 90233136 90243691 + 35013976 35022065 - 34205177 34213351 - 22301074;30032202 100972239 A0A2R8ZJA4 MODEL JARIFH010000010;XM_008955174;XM_008955175;XR_008626567 XP_008953423 A0A2R8ZJA4 KIAA1161 KIAA1161 ortholog;myogenesis-regulating glycosidase;uncharacterized family 31 glucosidase KIAA1161 homolog APPROVED protein-coding ENSPPAG00000021000 9 35015847 35017991 - 11673730 PRRC2A proline rich coiled-coil 2A ASSOCIATED WITH genetic disease (ortholog); JMP syndrome (ortholog); megacolon (ortholog); FOUND IN cytosol (inferred); nucleoplasm (inferred); plasma membrane (inferred) 6 6 6 42059050 42076580 + 32171616 32188738 + 31281722 31298825 + 30032202 100973630 A0A2R9AMB3;A0A2R9ARU1 MODEL JARIFH010000007;XM_003831576;XM_003831577;XM_034961733;XM_055113378 XP_003831624;XP_003831625;XP_054969353 A0A2R9ARU1 protein-coding ENSPPAG00000032344 6 32171621 32188729 + 11673769 MMADHC metabolism of cobalamin associated D INVOLVED IN cobalamin metabolic process (inferred); ASSOCIATED WITH genetic disease (ortholog); inherited metabolic disorder (ortholog); methylmalonic aciduria and homocystinuria type cblC (ortholog); FOUND IN cytosol (ortholog) 2B 2B 2B 25360062 25380111 + 153924371 153942537 - 10278656 10298700 + 22301074;30032202 100973872 A0A2R9A7B0;A0A2R9ACF3 MODEL JARIFH010000003;XM_003816682 XP_003816730 A0A2R9A7B0 cobalamin trafficking protein CblD;methylmalonic aciduria and homocystinuria type D protein, mitochondrial;methylmalonic aciduria and homocystinuria, cblD type APPROVED protein-coding ENSPPAG00000029746 2B 153924371 153942537 - 11673781 TLK1 tousled like kinase 1 ENCODES a protein that exhibits ATP binding (inferred); nucleotide binding (inferred); protein kinase activity (inferred); INVOLVED IN intracellular protein transport (inferred); intracellular signal transduction (inferred); regulation of chromatin organization (inferred); ASSOCIATED WITH adenoid cystic carcinoma (ortholog); genetic disease (ortholog); Neoplasm Recurrence, Local (ortholog); FOUND IN nucleoplasm (inferred); nucleus (inferred) 2B 2B 2B 73678097 73849177 - 175732125 175903322 - 58277362 58445321 - 22301074;30032202 100974151 A0A2R8ZKX5;A0A2R8ZKZ1;A0A2R8ZLZ0;A0A2R8ZLZ4;A0A2R8ZM14 MODEL JARIFH010000003;XM_003824277;XM_034954478;XM_034954479;XM_034954480;XM_055108749;XM_055108750 XP_003824325;XP_034810369;XP_034810370;XP_034810371;XP_054964724;XP_054964725 A0A2R8ZLZ0 serine/threonine-protein kinase tousled-like 1 protein-coding ENSPPAG00000022908 2B 175735054 175903322 - 11673809 PLA2G2C phospholipase A2 group IIC ENCODES a protein that exhibits calcium-dependent phospholipase A2 activity (ortholog); INVOLVED IN arachidonic acid secretion (inferred); lipid catabolic process (inferred); lipid metabolic process (inferred); ASSOCIATED WITH 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (ortholog); chromosome 1p36 deletion syndrome (ortholog); congenital disorder of glycosylation Ir (ortholog); FOUND IN extracellular region (inferred) 1 1 1 206048484 206072513 + 20162076 20173928 - 19118341 19142668 - 22301074;30032202 100974536 A0A2R9AGZ9;A0A2R9AH04;A0A2R9ANT2 MODEL JARIFH010000001;XM_014343402;XM_034957085;XM_034957092;XM_034957100 XP_014198888 A0A2R9AGZ9 putative inactive group IIC secretory phospholipase A2 protein-coding ENSPPAG00000031431 1 20161553 20176092 - 11673815 NKX2-8 NK2 homeobox 8 ENCODES a protein that exhibits sequence-specific DNA binding (ortholog); INVOLVED IN axonogenesis (ortholog); epithelial cell proliferation (ortholog); lung development (ortholog); ASSOCIATED WITH Brain-Lung-Thyroid Syndrome (ortholog); choreatic disease (ortholog); genetic disease (ortholog); FOUND IN nucleus (inferred) 14 14 14 37109648 37112786 - 35693746 35696346 - 17332188 17335036 - 22301074;30032202 100974985 A0A2R9BXM0 MODEL JARIFH010000015;XM_003831783 XP_003831831 A0A2R9BXM0 homeobox protein Nkx-2.8 protein-coding ENSPPAG00000038570 14 35693746 35696339 - 11673821 AARSD1 alanyl-tRNA synthetase domain containing 1 ENCODES a protein that exhibits alanine-tRNA ligase activity (inferred); aminoacyl-tRNA editing activity (inferred); aminoacyl-tRNA ligase activity (inferred); INVOLVED IN aminoacyl-tRNA metabolism involved in translational fidelity (ortholog); regulation of translational fidelity (ortholog); ASSOCIATED WITH genetic disease (ortholog) 17 17 17 23913605 23929784 + 14586286 14600413 + 14358207 14372668 + 22301074;30032202 100975087 A0A2R9AN71;A0A2R9ASP7;A0A2R9AV35 MODEL JARIFH010000018;XM_008966509;XM_008966510;XM_034941789;XR_004667154;XR_004667155;XR_004667156;XR_008621565 XP_008964757;XP_008964758 A0A2R9AV35 alanyl-tRNA editing protein Aarsd1 protein-coding ENSPPAG00000032539 11673840 ERAP2 endoplasmic reticulum aminopeptidase 2 ENCODES a protein that exhibits endopeptidase activity (ortholog); INVOLVED IN proteolysis (inferred); ASSOCIATED WITH ankylosing spondylitis (ortholog); birdshot chorioretinopathy (ortholog); Crohn's disease (ortholog); FOUND IN endoplasmic reticulum lumen (inferred) 5 5 5 90276919 90323134 + 97741678 97785071 + 92186786 92231020 + 22301074;30032202 100975104 A0A2R9A7J6;A0A2R9A7K5 MODEL JARIFH010000006;XM_003817930;XM_034960263 XP_003817978;XP_034816154 A0A2R9A7J6 protein-coding ENSPPAG00000029772 5 97741678 97785071 + 11673863 MTHFR methylenetetrahydrofolate reductase ENCODES a protein that exhibits flavin adenine dinucleotide binding (ortholog); methylenetetrahydrofolate reductase (NAD(P)H) activity (ortholog); NADP binding (ortholog); INVOLVED IN heterochromatin organization (ortholog); homocysteine metabolic process (ortholog); methionine biosynthetic process (ortholog); PARTICIPATES IN altered folate cycle metabolic pathway; altered folate mediated one-carbon metabolic pathway; folate cycle metabolic pathway; ASSOCIATED WITH abdominal aortic aneurysm (ortholog); acute kidney failure (ortholog); acute lymphoblastic leukemia (ortholog) 1 1 1 215063577 215079672 + 11766334 11785645 - 10548196 10568174 - 22301074;30032202 100975693 A0A2R9BUM3 MODEL JARIFH010000001;XM_003822069;XM_008975588;XM_008975589;XM_008975590 XP_003822117;XP_008973836;XP_008973838 A0A2R9BUM3 methylenetetrahydrofolate reductase (NADPH) protein-coding ENSPPAG00000038114 1 11766334 11785419 - 11673891 ZG16 zymogen granule protein 16 ENCODES a protein that exhibits peptidoglycan binding (inferred); INVOLVED IN defense response to Gram-positive bacterium (ortholog); suppression of symbiont entry into host (ortholog); ASSOCIATED WITH 16p11.2 Deletion Syndrome (ortholog); autism spectrum disorder (ortholog); autistic disorder (ortholog); FOUND IN zymogen granule membrane (ortholog) 16 16 35693332 35698044 - 30149307 30151579 + 30032202 100978205 A0A2R9AG04 MODEL JARIFH010000017;XM_003809378 XP_003809426 A0A2R9AG04 zymogen granule membrane protein 16;zymogen granule protein 16 homolog protein-coding ENSPPAG00000031258 16 30149307 30151579 + 11673904 ARMT1 acidic residue methyltransferase 1 ENCODES a protein that exhibits enzyme binding (inferred); fructose 6-phosphate aldolase activity (inferred); fructose-1-phosphatase activity (inferred); INVOLVED IN DNA damage response (inferred); methylation (inferred); ASSOCIATED WITH genetic disease (ortholog) 6 6 6 169367160 169389701 + 153965211 153983027 + 149268840 149286618 + 30032202 100981371 A0A2R9ABL2 MODEL JARIFH010000007;XM_003811499;XM_034963098 XP_003811547;XP_034818989 A0A2R9ABL2 UPF0364 protein C6orf211-like;damage-control phosphatase ARMT1;protein-glutamate O-methyltransferase protein-coding ENSPPAG00000030485 6 153965211 153983027 + 11673916 MVB12A multivesicular body subunit 12A ENCODES a protein that exhibits lipid binding (inferred); SH3 domain binding (inferred); ubiquitin binding (inferred); INVOLVED IN protein transport (inferred); regulation of epidermal growth factor receptor signaling pathway (inferred); viral budding (inferred); ASSOCIATED WITH genetic disease (ortholog); human immunodeficiency virus infectious disease (ortholog); FOUND IN ESCRT I complex (ortholog) 19 19 19 21296143 21301414 + 17880073 17885546 + 16906449 16911717 + 22301074;30032202 100982650 A0A2R9BDD4;A0A2R9BHE4;A0A2R9BHE8 MODEL JARIFH010000020;XM_003817791 XP_003817839 A0A2R9BDD4 FAM125A family with sequence similarity 125, member A protein-coding ENSPPAG00000036251 19 17880073 17894044 + 11673929 FAM83C family with sequence similarity 83 member C ENCODES a protein that exhibits protein kinase binding (inferred); ASSOCIATED WITH genetic disease (ortholog); prostate cancer (ortholog) 20 20 20 41012553 41020045 - 32737883 32744579 - 31615066 31621860 - 30032202 100982737 A0A2R9BT29 MODEL JARIFH010000021;XM_003831844 XP_003831892 A0A2R9BT29 protein-coding ENSPPAG00000037890 20 32737883 32744579 - 11673937 LOC100982811 L-lactate dehydrogenase A chain-like 10 10 10 130798833 130800112 - 118930087 118965782 - 115505423 115506702 - 100982811 MODEL JARIFH010000011 pseudo 11673938 LOC100982983 cysteine and histidine-rich domain-containing protein 1-like 14 14 14 90099063 90100781 - 89709068 89721690 - 70355483 70357645 - 100982983 MODEL JARIFH010000015 pseudo 11673939 E2F1 E2F transcription factor 1 ENCODES a protein that exhibits molecular adaptor activity (ortholog); protein kinase binding (ortholog); sequence-specific DNA binding (ortholog); INVOLVED IN anoikis (ortholog); cellular response to fatty acid (ortholog); cellular response to hypoxia (ortholog); ASSOCIATED WITH Alzheimer's disease (ortholog); Breast Neoplasms (ortholog); Chemical and Drug Induced Liver Injury (ortholog); FOUND IN nuclear chromosome (ortholog); nucleus (ortholog); Rb-E2F complex (ortholog) 20 20 20 39359755 39370541 - 31103764 31115211 - 29963083 29973860 - 22301074;30032202 100983073 A0A2R8ZVH7 MODEL JARIFH010000021;XM_034947680 XP_034803571 A0A2R8ZVH7 transcription factor E2F1 protein-coding ENSPPAG00000025868 20 31103764 31110604 - 11673954 LOC100985288 ADP/ATP translocase 2-like 6 6 6 139534149 139536010 + 123564595 123565592 + 119432122 119433979 + 100985288 MODEL JARIFH010000007 ADP/ATP translocase 2 pseudogene APPROVED pseudo 11673955 KCTD10 potassium channel tetramerization domain containing 10 ENCODES a protein that exhibits identical protein binding (ortholog); Notch binding (ortholog); INVOLVED IN angiogenesis (ortholog); heart development (ortholog); negative regulation of Notch signaling pathway (ortholog); ASSOCIATED WITH genetic disease (ortholog); FOUND IN cytosol (ortholog); MKS complex (ortholog); nucleoplasm (ortholog) 12 12 12 117512051 117540789 - 110419859 110449017 - 107025380 107054118 - 22301074;30032202 100985313 A0A2R8ZMD8 MODEL JARIFH010000013;XM_003832507;XM_008957933;XM_008957934;XM_008957935;XM_055096097;XM_055096098;XM_055096099 XP_003832555;XP_008956182;XP_008956183;XP_054952072;XP_054952073;XP_054952074 A0A2R8ZMD8 BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 3;potassium channel tetramerisation domain containing 10 protein-coding ENSPPAG00000021243 12 110419859 110448773 - 11673988 FAM9C family with sequence similarity 9 member C ASSOCIATED WITH autistic disorder (ortholog); genetic disease (ortholog); Joubert syndrome 1 (ortholog) X X X 14822124 14832729 - 12936617 12945798 - 5647848 5657551 - 30032202 100986913 A0A2R9A0Y8 MODEL JARIFH010000024;XM_034949831;XM_055106363;XM_055106364 XP_054962338;XP_054962339 A0A2R9A0Y8 protein-coding ENSPPAG00000028467 X 12936617 12945919 - 11674006 JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase ENCODES a protein that exhibits histone demethylase activity (inferred); histone H3R2 demethylase activity (inferred); histone H4R3 demethylase activity (inferred); INVOLVED IN apoptotic cell clearance (ortholog); blood vessel development (ortholog); cell surface receptor signaling pathway (ortholog); ASSOCIATED WITH Breast Neoplasms (ortholog); genetic disease (ortholog); melanoma (ortholog); FOUND IN nucleus (ortholog) 17 17 17 97588347 97602333 - 76356142 76370117 - 70789922 70803791 - 30032202 100989138 A0A2R9A0Q2;A0A2R9A0S0;A0A2R9A1Z3;A0A2R9A688 MODEL JARIFH010000018;XM_003818295;XR_004667374;XR_004667375 XP_003818343 A0A2R9A0S0 arginine demethylase and lysine hydroxylase;bifunctional arginine demethylase and lysyl-hydroxylase JMJD6 APPROVED protein-coding ENSPPAG00000028606 17 76356142 76370117 - 11674022 SPIB Spi-B transcription factor ENCODES a protein that exhibits DNA-binding transcription activator activity, RNA polymerase II-specific (ortholog); RNA polymerase II cis-regulatory region sequence-specific DNA binding (ortholog); sequence-specific double-stranded DNA binding (ortholog); INVOLVED IN immature B cell differentiation (ortholog); macrophage differentiation (ortholog); positive regulation of transcription by RNA polymerase II (ortholog); ASSOCIATED WITH genetic disease (ortholog); Mycoplasma pneumoniae pneumonia (ortholog); primary biliary cholangitis (ortholog); FOUND IN nuclear lumen (inferred); nucleus (inferred) 19 19 19 58406052 58417098 + 56285121 56297617 + 47382653 47395178 + 22301074;30032202 100989335 A0A2R9A9N5;A0A2R9A9N8;A0A2R9AEP8;A0A2R9AEV9 MODEL JARIFH010000020;XM_003813623;XM_008966142;XM_008966143;XM_055103374;XM_055103375 XP_003813671;XP_008964390;XP_054959349;XP_054959350 transcription factor Spi-B protein-coding ENSPPAG00000030001 19 56251356 56297611 + 11674050 TBK1 TANK binding kinase 1 ENCODES a protein that exhibits ATP binding (inferred); identical protein binding (inferred); nucleic acid binding (inferred); INVOLVED IN activation of innate immune response (ortholog); defense response to Gram-positive bacterium (ortholog); dendritic cell proliferation (ortholog); PARTICIPATES IN Toll-like receptor signaling pathway; ASSOCIATED WITH amyotrophic lateral sclerosis (ortholog); ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), 8 (ortholog); frontotemporal dementia and/or amyotrophic lateral sclerosis-4 (ortholog); FOUND IN cytoplasm (ortholog); cytosol (ortholog) 12 12 12 29861685 29912320 - 24919412 24968587 - 24419271 24469164 - 22301074;30032202 100990211 A0A2R8ZIM2;A0A2R8ZIM6 MODEL JARIFH010000013;XM_034935515;XM_055096509 XP_034791406;XP_054952484 A0A2R8ZIM2 serine/threonine-protein kinase TBK1 protein-coding ENSPPAG00000015357 12 24917246 24968587 - 11674080 RPL30 ribosomal protein L30 ENCODES a protein that exhibits selenocysteine insertion sequence binding (ortholog); INVOLVED IN liver regeneration (ortholog); positive regulation of selenocysteine incorporation (ortholog); PARTICIPATES IN ribosome biogenesis pathway; translation pathway; ASSOCIATED WITH genetic disease (ortholog); herpes simplex (ortholog); FOUND IN cytosolic large ribosomal subunit (ortholog); cytosolic ribosome (ortholog); postsynaptic density (ortholog) 8 8 8 90925079 90929454 - 96863859 96867732 - 94678823 94682726 - 22301074;30032202 100990524 A0A2R9AFW1;A0A2R9BWG6 MODEL JARIFH010000009;XM_034966403 XP_034822294 A0A2R9AFW1;A0A2R9BWG6 60S ribosomal protein L30 protein-coding ENSPPAG00000031219;ENSPPAG00000038382 8 96863944 96867526 - 11674088 LHFPL4 LHFPL tetraspan subfamily member 4 ENCODES a protein that exhibits GABA receptor binding (inferred); INVOLVED IN gamma-aminobutyric acid receptor clustering (inferred); neurotransmitter receptor localization to postsynaptic specialization membrane (inferred); regulation of inhibitory synapse assembly (inferred); ASSOCIATED WITH Atrioventricular Septal Defect 2 (ortholog); genetic disease (ortholog); long QT syndrome (ortholog); FOUND IN GABA-ergic synapse (ortholog); postsynaptic specialization (ortholog) 3 3 3 9515093 9570591 - 9695091 9745722 - 9453628 9506434 - 30032202 100990810 A0A2R9CK12 MODEL JARIFH010000004;XM_034955713;XM_034955714;XM_034955715 XP_034811604;XP_034811605;XP_034811606 A0A2R9CK12 lipoma HMGIC fusion partner-like 4 APPROVED protein-coding ENSPPAG00000041973 3 9695091 9745722 - 11674095 AIMP1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 ENCODES a protein that exhibits cytokine activity (ortholog); INVOLVED IN blood vessel morphogenesis (ortholog); defense response to virus (ortholog); positive regulation of glucagon secretion (ortholog); ASSOCIATED WITH genetic disease (ortholog); hypomyelinating leukodystrophy 3 (ortholog); Muscle Hypotonia (ortholog); FOUND IN extracellular space (ortholog) 4 4 4 104709130 104742902 + 109403236 109436566 + 98796320 98830095 + 22301074 100991364 A0A2R9BMD4;A0A2R9BQV0 MODEL JARIFH010000005;XM_003829985;XM_003829987;XM_008955358;XM_034958972 XP_003830033;XP_003830035;XP_008953606 A0A2R9BMD4 aminoacyl tRNA synthase complex-interacting multifunctional protein 1 protein-coding ENSPPAG00000038355 4 109404352 109436566 + 11674117 SLC16A13 solute carrier family 16 member 13 ENCODES a protein that exhibits transmembrane transporter activity (inferred); INVOLVED IN transmembrane transport (inferred); ASSOCIATED WITH common variable immunodeficiency (ortholog); congenital myasthenic syndrome 2A (ortholog); developmental and epileptic encephalopathy 25 (ortholog); FOUND IN cytosol (inferred); Golgi apparatus (inferred); membrane (inferred) 17 17 17 16595554 16601096 + 7055038 7059170 + 7066765 7071082 + 22301074;30032202 100992027 A0A2R9BJE6 MODEL JARIFH010000018;XM_003810124;XM_034941400 XP_003810172 A0A2R9BJE6 monocarboxylate transporter 13;solute carrier family 16, member 13 (monocarboxylic acid transporter 13) protein-coding ENSPPAG00000037248 17 7055038 7059170 + 11674125 LOC100992300 phosphatidylinositol N-acetylglucosaminyltransferase subunit A-like 12 12 12 108633634 108640152 + 101562966 101564418 + 98157857 98159453 + 100992300 MODEL JARIFH010000013 phosphatidylinositol N-acetylglucosaminyltransferase subunit A pseudogene APPROVED pseudo 11674127 LOC100993013 serine protease 1 ENCODES a protein that exhibits calcium ion binding (inferred); hydrolase activity (inferred); peptidase activity (inferred); INVOLVED IN collagen catabolic process (inferred); proteolysis (inferred); FOUND IN extracellular region (inferred); extracellular space (inferred) 7 7 7 31576577 31580877 + 147201532 147205832 + 134712109 134713424 + 22301074;30032202 100993013 A0A2R9B8Z6;A0A2R9BCQ1;A0A2R9BGE5;A0A2R9BGF0;A0A2R9BGG1;A0A2R9BGV3;A0A2R9CSV7 MODEL JARIFH010000008;XM_034965133;XM_055115477;XM_055115478;XM_055115479 XP_034821024;XP_054971452;XP_054971453;XP_054971454 A0A2R9BGE5;A0A2R9BGV3 serine protease 1-like;trypsin-1-like APPROVED protein-coding ENSPPAG00000036154;ENSPPAG00000037450 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ENCODES a protein that exhibits UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (ortholog); INVOLVED IN dolichol metabolic process (ortholog); dolichol-linked oligosaccharide biosynthetic process (ortholog); UDP-N-acetylglucosamine metabolic process (ortholog); ASSOCIATED WITH acute intermittent porphyria (ortholog); acute porphyria (ortholog); CD3epsilon deficiency (ortholog); FOUND IN endoplasmic reticulum (inferred); endoplasmic reticulum membrane (inferred); intracellular membrane-bounded organelle (inferred) 11 11 11 120904998 120911981 - 117863866 117870198 - 113934705 113940535 - 22301074;30032202 100993250 A0A2R9BSI7;A0A2R9C1T0 MODEL JARIFH010000012;XM_003820011;XM_008973432;XM_008973435;XM_034933865;XM_034933866;XM_034933867;XM_034933868 XP_003820059;XP_008971680;XP_008971683;XP_034789756;XP_034789758 A0A2R9C1T0 UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase protein-coding ENSPPAG00000039196 11 117863866 117870204 - 11674157 SMIM9 small integral membrane protein 9 ASSOCIATED WITH adrenoleukodystrophy (ortholog); autistic disorder (ortholog); Barth syndrome (ortholog); FOUND IN membrane (inferred) X X X 154806178 154813787 - 154144752 154151903 - 144303611 144311226 - 100994794 A0A2R9B2Q2 MODEL JARIFH010000024;XM_014343601 XP_014199087 A0A2R9B2Q2 protein-coding ENSPPAG00000035097 X 154144752 154151903 - 11674175 LOC100995817 protein ARMCX6 ASSOCIATED WITH autistic disorder (ortholog); developmental and epileptic encephalopathy 9 (ortholog); genetic disease (ortholog); FOUND IN membrane (inferred) X X X 101215832 101218737 - 100944169 100947064 - 90815392 90818297 - 30032202 100995817 A0A2R8Z7D4 MODEL JARIFH010000024;XM_003810418;XR_004668793 XP_003810466 A0A2R8Z7D4 ARMCX6 armadillo repeat containing X-linked 6;armadillo repeat containing, X-linked 6 APPROVED protein-coding ENSPPAG00000002913 X 100944769 100945671 - 11674196 ZNF771 zinc finger protein 771 ENCODES a protein that exhibits sequence-specific double-stranded DNA binding (inferred); ASSOCIATED WITH genetic disease (ortholog); FOUND IN nucleolus (inferred); nucleoplasm (inferred) 16 16 16 38414314 38425817 + 30778598 30789501 + 24550539 24562048 - 30032202 103784251 A0A2R9B008;A0A2R9B670;A0A2R9B674 MODEL JARIFH010000017;XM_034940068;XM_034940069;XM_034940070 XP_034795959;XP_034795960;XP_034795961 A0A2R9B674 protein-coding ENSPPAG00000034587 16 30779071 30799999 + 11674204 TTC36 tetratricopeptide repeat domain 36 INVOLVED IN central nervous system neuron development (ortholog); memory (ortholog); negative regulation of peptidyl-threonine phosphorylation (ortholog); ASSOCIATED WITH CD3epsilon deficiency (ortholog); Chromosome 11, Partial Trisomy 11q (ortholog); Dwarfism (ortholog) 11 11 11 120336128 120340093 + 117295203 117298928 + 113364559 113368586 + 22301074;30032202 103786312 A0A2R9A105 MODEL JARIFH010000012;XM_008973453 XP_008971701 A0A2R9A105 tetratricopeptide repeat protein 36 protein-coding ENSPPAG00000027699 11 117295191 117298928 + 11674211 PHOSPHO2 phosphatase, orphan 2 ENCODES a protein that exhibits metal ion binding (inferred); phosphatase activity (inferred); ASSOCIATED WITH genetic disease (ortholog) 2B 2B 2B 72372162 72385009 + 174436522 174443796 + 56968836 56976115 + 22301074;30032202 103787064 A0A2R8ZP24 MODEL JARIFH010000003;XM_008978032;XM_008978033;XM_008978034;XM_008978035;XM_008978037;XM_008978039;XM_055108738;XM_055108739;XM_057301431;XR_008624536;XR_008624537 XP_008976280;XP_008976281;XP_008976282;XP_008976283;XP_008976285;XP_054964713;XP_054964714;XP_057157414 A0A2R8ZP24 pyridoxal phosphate phosphatase PHOSPHO2 protein-coding ENSPPAG00000019099 2B 174443060 174443785 + 11674241 LOC106634326 uncharacterized LOC106634326 X X X 129088484 129105321 - 129103596 129106115 - 118791847 118808658 - 106634326 MODEL JARIFH010000024;XR_001337705 ncrna 11674246 LOC106634716 uncharacterized LOC106634716 4 4 4 125125276 125135141 - 130567483 130577151 - 119259809 119269595 - 106634716 MODEL JARIFH010000005;XR_001338079 ncrna 11674251 STC1 stanniocalcin 1 ENCODES a protein that exhibits hormone activity (inferred); identical protein binding (inferred); INVOLVED IN cellular response to cAMP (ortholog); cellular response to glucocorticoid stimulus (ortholog); cellular response to hypoxia (ortholog); ASSOCIATED WITH genetic disease (ortholog); Reperfusion Injury (ortholog); FOUND IN apical plasma membrane (ortholog) 8 8 8 18071706 18084592 - 20023469 20036321 - 23089339 23102245 - 22301074;30032202 100967251 A0A2R9A5G4 MODEL JARIFH010000009;XM_003823571 XP_003823619 A0A2R9A5G4 stanniocalcin-1 protein-coding ENSPPAG00000029446 8 20023469 20036321 - 11674259 UBE2W ubiquitin conjugating enzyme E2 W ENCODES a protein that exhibits ubiquitin conjugating enzyme activity (ortholog); ubiquitin protein ligase binding (ortholog); ubiquitin-protein transferase activity (ortholog); INVOLVED IN antiviral innate immune response (ortholog); cellular response to misfolded protein (ortholog); negative regulation of TORC1 signaling (ortholog); ASSOCIATED WITH Charcot-Marie-Tooth disease axonal type 2K (ortholog); FOUND IN nucleus (ortholog) 8 8 8 65150278 65250126 - 71961890 72060302 - 70315767 70413148 - 100968686 A0A2R9C4L9;A0A2R9C756;A0A2R9CEJ6 MODEL JARIFH010000009;XM_003831319;XM_008956682;XM_034966244;XM_034966245;XM_055116660;XM_055116661;XM_057303029 XP_003831367;XP_034822136;XP_054972635;XP_054972636;XP_057159012 A0A2R9C4L9 ubiquitin conjugating enzyme E2 W (putative);ubiquitin-conjugating enzyme E2 W protein-coding ENSPPAG00000041115 11674272 CWC25 CWC25 spliceosome associated protein homolog INVOLVED IN mRNA processing (inferred); mRNA splicing, via spliceosome (inferred); ASSOCIATED WITH genetic disease (ortholog); FOUND IN nuclear speck (inferred); nucleus (inferred); U2-type catalytic step 1 spliceosome (inferred) 17 17 17 28006272 28031553 + 18719907 18745213 + 18446107 18471059 + 30032202 100968998 A0A2R8ZL90;A0A2R8ZLA2;A0A2R8ZP27 MODEL JARIFH010000018;XM_003809842 XP_003809890 A0A2R8ZL90 pre-mRNA-splicing factor CWC25 homolog protein-coding ENSPPAG00000023487 17 18719907 18745213 + 11674286 PRR14 proline rich 14 ASSOCIATED WITH branched-chain keto acid dehydrogenase kinase deficiency (ortholog); genetic disease (ortholog); FOUND IN nucleoplasm (inferred) 16 16 16 38655694 38662994 + 31019072 31024743 + 24313349 24319106 - 30032202 100969212 A0A2R9CA27 MODEL JARIFH010000017;XM_034940057;XM_034940058 XP_034795948;XP_034795949 A0A2R9CA27 proline-rich protein 14 protein-coding ENSPPAG00000042067 16 31021051 31024642 + 11674305 EXOC4 exocyst complex component 4 ENCODES a protein that exhibits ionotropic glutamate receptor binding (ortholog); PDZ domain binding (ortholog); protein-containing complex binding (ortholog); INVOLVED IN chemical synaptic transmission (ortholog); establishment of cell polarity (ortholog); Golgi to transport vesicle transport (ortholog); PARTICIPATES IN E-cadherin signaling pathway; insulin signaling pathway; ASSOCIATED WITH genetic disease (ortholog); Meckel syndrome (ortholog); pleomorphic xanthoastrocytoma (ortholog); FOUND IN cell leading edge (ortholog); dendrite (ortholog); dendritic shaft (ortholog) 7 7 7 22093854 22898347 + 137734349 138537446 + 125226107 126030486 + 22301074;30032202 100971089 A0A2R9B539;A0A2R9B544;A0A2R9B6L4 MODEL JARIFH010000008;XM_003813456 XP_003813504 A0A2R9B539 protein-coding ENSPPAG00000035477 7 137734400 138536214 + 11674327 SRL sarcalumenin ENCODES a protein that exhibits GTP binding (inferred); INVOLVED IN response to muscle activity involved in regulation of muscle adaptation (ortholog); store-operated calcium entry (ortholog); ASSOCIATED WITH epilepsy (ortholog); genetic disease (ortholog); idiopathic generalized epilepsy (ortholog); FOUND IN membrane (inferred) 16 16 16 8494762 8564430 - 4280767 4332786 - 3107619 3161180 - 22301074 100971678 A0A2R8ZN21;A0A2R8ZN33;A0A2R8ZP96 MODEL JARIFH010000017;XM_003815130;XM_024926009;XM_055100815 XP_054956790 A0A2R8ZN33 protein-coding ENSPPAG00000024919 11674338 LOC100972998 cTAGE family member 2-like 13 13 13 58634769 58639844 + 58431495 58433849 + 39700964 39703318 + 30032202 100972998 MODEL JARIFH010000014;XM_008950658 XP_008948906 cTAGE family member 5-like;endoplasmic reticulum export factor CTAGE5-like APPROVED protein-coding 11674342 BTN1A1 butyrophilin subfamily 1 member A1 INVOLVED IN negative regulation of activated T cell proliferation (ortholog); negative regulation of cytokine production (ortholog); ASSOCIATED WITH genetic disease (ortholog); FOUND IN membrane (inferred) 6 6 6 37147062 37157585 + 26990950 27001087 + 26333369 26342997 + 30032202 100974130 A0A2R9BIQ5;A0A2R9BMB2 MODEL JARIFH010000007;XM_034961611 XP_034817502 A0A2R9BIQ5 protein-coding ENSPPAG00000037786 6 26990950 27001087 + 11674359 YBX3 Y-box binding protein 3 ENCODES a protein that exhibits single-stranded DNA binding (ortholog); small GTPase binding (ortholog); INVOLVED IN animal organ regeneration (ortholog); apoptotic process (ortholog); ectopic germ cell programmed cell death (ortholog); ASSOCIATED WITH genetic disease (ortholog); Optic Nerve Injuries (ortholog); FOUND IN bicellular tight junction (ortholog); gap junction (ortholog); perinuclear region of cytoplasm (ortholog) 12 12 12 16167659 16191821 - 10994177 11018504 - 10728049 10752267 - 22301074;30032202 100974418 A0A2R9BV96;A0A2R9C0V1 MODEL JARIFH010000013;XM_008954972;XM_034935372;XM_055095394;XM_055095395 XP_008953220;XP_034791263;XP_054951369;XP_054951370 A0A2R9BV96 CSDA Y-box-binding protein 3;cold shock domain protein A protein-coding ENSPPAG00000039068 12 10996380 11018172 - 11674373 QTRT1 queuine tRNA-ribosyltransferase catalytic subunit 1 ENCODES a protein that exhibits glycosyltransferase activity (inferred); metal ion binding (inferred); pentosyltransferase activity (inferred); INVOLVED IN tRNA modification (inferred); tRNA processing (inferred); tRNA-guanine transglycosylation (inferred); ASSOCIATED WITH genetic disease (ortholog); FOUND IN mitochondrion (ortholog); transferase complex (ortholog) 19 19 19 14620632 14636228 + 10916336 10928899 + 10255479 10267367 + 22301074;30032202 100975608 A0A2R9ABY7 MODEL JARIFH010000020;XM_003809579;XM_034944907;XM_034944908;XM_034944909 XP_003809627 A0A2R9ABY7 queuine tRNA-ribosyltransferase protein-coding ENSPPAG00000030556 19 10916330 10928899 + 11674387 LOC100975640 zinc finger protein 479 ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN regulation of DNA-templated transcription (inferred) 7 7 110142503 110154272 - 63674644 63692248 + 30032202 100975640 A0A2R9B7F1 MODEL JARIFH010000008;XM_014345678;XM_034950975;XM_055115986 XP_034806866;XP_054971961 A0A2R9B7F1 putative zinc finger protein 735 APPROVED protein-coding ENSPPAG00000035647 7 63674644 63692248 + 11674393 DTL denticleless E3 ubiquitin protein ligase homolog ENCODES a protein that exhibits ubiquitin-protein transferase activity (ortholog); INVOLVED IN DNA damage response (inferred); mitotic G2 DNA damage checkpoint signaling (inferred); positive regulation of G2/M transition of mitotic cell cycle (inferred); ASSOCIATED WITH adenoid cystic carcinoma (ortholog); COVID-19 (ortholog); gastrointestinal stromal tumor (ortholog); FOUND IN centrosome (inferred); Cul4-RING E3 ubiquitin ligase complex (inferred); Cul4A-RING E3 ubiquitin ligase complex (inferred) 1 1 1 37264941 37331990 - 192466408 192535071 + 187603600 187672006 + 22301074;30032202 100975871 A0A2R9ACJ9;A0A2R9AHC2 MODEL JARIFH010000001;XM_003814190;XM_055108385 XP_003814238;XP_054964360 A0A2R9AHC2 denticleless protein homolog protein-coding ENSPPAG00000030472 1 192466408 192535071 + 11674412 NUDT1 nudix hydrolase 1 ENCODES a protein that exhibits 5'-(N(7)-methylguanosine 5'-triphospho)-[mRNA] hydrolase activity (ortholog); INVOLVED IN male gonad development (ortholog); response to cadmium ion (ortholog); ASSOCIATED WITH Alzheimer's disease (ortholog); Cadmium Poisoning (ortholog); Experimental Mammary Neoplasms (ortholog); FOUND IN acrosomal vesicle (ortholog); extracellular space (ortholog); nuclear membrane (ortholog) 7 7 7 55532679 55541894 + 2613207 2622141 + 2511573 2520643 + 22301074;30032202 100976009 A0A2R9BLI9 MODEL JARIFH010000008;XM_024929629;XM_034963528;XM_034963529;XM_034963530;XM_034963531 XP_024785397;XP_034819420;XP_034819421;XP_034819422 A0A2R9BLI9 7,8-dihydro-8-oxoguanine triphosphatase;oxidized purine nucleoside triphosphate hydrolase protein-coding ENSPPAG00000037640 7 2614005 2621997 + 11674421 PDCD6IP programmed cell death 6 interacting protein ENCODES a protein that exhibits calcium-dependent protein binding (ortholog); identical protein binding (ortholog); protein dimerization activity (ortholog); INVOLVED IN actomyosin contractile ring assembly (ortholog); bicellular tight junction assembly (ortholog); extracellular exosome biogenesis (ortholog); ASSOCIATED WITH genetic disease (ortholog); osteoarthritis (ortholog); Primary Autosomal Recessive Microcephaly 29 (ortholog); FOUND IN actomyosin (ortholog); cytosol (ortholog); endoplasmic reticulum exit site (ortholog) 3 3 3 33778883 33852381 + 34016152 34093631 + 33719603 33793301 + 22301074;30032202 100976964 A0A2R9A591 MODEL JARIFH010000004;XM_034956094;XM_034956095 XP_034811985;XP_034811986 A0A2R9A591 protein-coding ENSPPAG00000029413 3 34016474 34093631 + 11674447 LOC100977132 60S ribosomal protein L7-like 1 1 1 144969933 144971368 + 82429340 82441232 - 80296679 80297542 - 100977132 MODEL JARIFH010000001 60S ribosomal protein L7 pseudogene APPROVED pseudo 11674448 RUFY4 RUN and FYVE domain containing 4 ENCODES a protein that exhibits metal ion binding (inferred); phosphatidylinositol-3-phosphate binding (inferred); INVOLVED IN autophagosome assembly (inferred); cellular response to interleukin-4 (inferred); positive regulation of macroautophagy (inferred); ASSOCIATED WITH genetic disease (ortholog); Neurodevelopmental Disorders (ortholog); FOUND IN autophagosome (inferred) 2B 2B 2B 120719574 120741774 + 223930456 223952939 + 105331522 105353934 + 30032202 100977577 A0A2R9A3Q6;A0A2R9A7Y4 MODEL JARIFH010000003;XM_003818593 XP_003818641 A0A2R9A7Y4 RUN and FYVE domain-containing protein 4 protein-coding ENSPPAG00000028954 2B 223932041 223952939 + 11674465 DVL3 dishevelled segment polarity protein 3 ENCODES a protein that exhibits protein-macromolecule adaptor activity (ortholog); signaling receptor binding (ortholog); INVOLVED IN cochlea morphogenesis (ortholog); heart morphogenesis (ortholog); outflow tract septum morphogenesis (ortholog); PARTICIPATES IN Wnt signaling pathway; Wnt signaling, canonical pathway; Wnt signaling, non-canonical pathway; ASSOCIATED WITH 3-Methylcrotonyl-CoA carboxylase 1 deficiency (ortholog); autosomal dominant Robinow syndrome 1 (ortholog); autosomal dominant Robinow syndrome 2 (ortholog); FOUND IN cytoplasm (ortholog); glutamatergic synapse (ortholog); synapse (ortholog) 3 3 3 182031934 182049695 + 189674405 189691749 + 181190961 181207831 + 22301074;30032202 100977837 A0A2R9C8L5;A0A2R9C8M9;A0A2R9C8N2 MODEL JARIFH010000004;XM_003806587;XM_008955204;XM_034957806 XP_008953452;XP_034813697 A0A2R9C8L5 dishevelled, dsh homolog 3;segment polarity protein dishevelled homolog DVL-3 protein-coding ENSPPAG00000041835 3 189674399 189693130 + 11674488 LOC100978048 microtubule-associated protein RP/EB family member 1-like 2B 2B 2B 67961520 67962304 + 169919715 169920499 + 52560629 52561435 + 100978048 MODEL JARIFH010000003 microtubule-associated protein RP/EB family member 1 pseudogene APPROVED pseudo 11674489 SRFBP1 serum response factor binding protein 1 ASSOCIATED WITH aortic dissection (ortholog); connective tissue disease (ortholog); cutis laxa (ortholog); FOUND IN nucleus (inferred) 5 5 5 115393095 115465475 + 123134896 123196844 + 117351025 117417546 + 30032202 100978751 A0A2R9B8L8 MODEL JARIFH010000006;XM_003826702 XP_003826750 A0A2R9B8L8 serum response factor-binding protein 1 protein-coding ENSPPAG00000035848 5 123134896 123196844 + 11674501 ATRIP ATR interacting protein ENCODES a protein that exhibits K63-linked polyubiquitin modification-dependent protein binding (inferred); INVOLVED IN DNA damage checkpoint signaling (inferred); ASSOCIATED WITH Aicardi-Goutieres syndrome (ortholog); Aicardi-Goutieres Syndrome 1 (ortholog); CADASIL (ortholog); FOUND IN ATR-ATRIP complex (inferred); nucleoplasm (inferred) 3 3 3 48426376 48445271 + 49450861 49469351 + 48368775 48387698 + 30032202 100980063 A0A2R9BGS8;A0A2R9BJJ7;A0A2R9BJK1 MODEL JARIFH010000004;XM_003818409;XM_014344207;XM_014344208;XM_034956373;XM_034956374;XM_034956375 XP_003818457;XP_034812264 A0A2R9BJJ7 protein-coding ENSPPAG00000037275 3 49450991 49469351 + 11674527 LAT linker for activation of T cells ENCODES a protein that exhibits protein kinase binding (inferred); signaling receptor complex adaptor activity (inferred); INVOLVED IN gene expression (ortholog); homeostasis of number of cells (ortholog); inflammatory response (ortholog); PARTICIPATES IN Fc epsilon receptor mediated signaling pathway; ASSOCIATED WITH 16p11.2 Deletion Syndrome (ortholog); amyotrophic lateral sclerosis type 1 (ortholog); chromosome 16p11.2 deletion syndrome (ortholog); FOUND IN cell-cell junction (ortholog); COP9 signalosome (ortholog); plasma membrane (ortholog) 16 36975876 36983361 + 22301074;30032202 100983902 A0A2R9BHF1;A0A2R9BKZ0;A0A2R9BKZ7;A0A2R9BR49 MODEL JARIFH010000017;XM_008961649;XM_008961652;XM_024927438;XM_057300015 XP_008959897;XP_008959900;XP_024783206;XP_057155998 A0A2R9BKZ0 linker for activation of T-cells;linker for activation of T-cells family member 1 APPROVED protein-coding ENSPPAG00000037552 11674528 E2F2 E2F transcription factor 2 ENCODES a protein that exhibits DNA-binding transcription activator activity, RNA polymerase II-specific (ortholog); RNA polymerase II transcription regulatory region sequence-specific DNA binding (ortholog); INVOLVED IN intrinsic apoptotic signaling pathway by p53 class mediator (ortholog); lens fiber cell apoptotic process (ortholog); regulation of cell cycle (ortholog); ASSOCIATED WITH 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (ortholog); COVID-19 (ortholog); Disease Progression (ortholog); FOUND IN nucleus (inferred); RNA polymerase II transcription regulator complex (inferred); transcription regulator complex (inferred) 1 1 1 202513407 202539532 + 23683291 23707951 - 22696695 22722840 - 22301074;30032202 100984393 A0A2R9C653 MODEL JARIFH010000001;XM_003810754;XM_008963117 XP_003810802 A0A2R9C653 transcription factor E2F2 protein-coding ENSPPAG00000041397 1 23683293 23707951 - 11674543 GCNT3 glucosaminyl (N-acetyl) transferase 3, mucin type ENCODES a protein that exhibits acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (ortholog); N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (ortholog); INVOLVED IN intestinal absorption (ortholog); kidney morphogenesis (ortholog); tissue morphogenesis (ortholog); ASSOCIATED WITH Bloom syndrome (ortholog); colorectal cancer (ortholog); genetic disease (ortholog); FOUND IN Golgi membrane (inferred); membrane (inferred) 15 15 15 52972590 53067057 + 56886258 56894488 + 38580509 38589223 + 22301074;30032202 100984517 A0A2R8ZFN8 MODEL JARIFH010000016;XM_003827906;XM_055098771;XM_055098772;XM_055098773;XM_055098774 XP_003827954;XP_054954746;XP_054954747;XP_054954748;XP_054954749 A0A2R8ZFN8 beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 3 protein-coding ENSPPAG00000006538 15 56892716 56894032 + 11674554 EXTL3 exostosin like glycosyltransferase 3 ENCODES a protein that exhibits glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (inferred); glycosyltransferase activity (inferred); hexosyltransferase activity (inferred); INVOLVED IN negative regulation of cytokine production involved in inflammatory response (ortholog); negative regulation of inflammatory response (ortholog); positive regulation of cell growth (ortholog); ASSOCIATED WITH autosomal dominant nocturnal frontal lobe epilepsy (ortholog); benign familial infantile seizures 6 (ortholog); genetic disease (ortholog); FOUND IN plasma membrane (ortholog) 8 8 8 22877190 23013515 + 25079531 25233599 + 27983700 28035879 + 22301074;30032202 100984535 A0A2R9AY22;A0A2R9AY28 MODEL JARIFH010000009;XM_034965900;XM_055116401 XP_054972376 A0A2R9AY22 exostoses (multiple)-like 3;exostosin-like 3 protein-coding ENSPPAG00000033582 8 25174414 25233599 + 11674581 FZD3 frizzled class receptor 3 ENCODES a protein that exhibits G protein-coupled receptor activity (inferred); PDZ domain binding (inferred); transmembrane signaling receptor activity (inferred); INVOLVED IN cell proliferation in midbrain (ortholog); commissural neuron axon guidance (ortholog); establishment of planar polarity (ortholog); PARTICIPATES IN Wnt signaling pathway; Wnt signaling, the planar cell polarity pathway; ASSOCIATED WITH Agenesis of Corpus Callosum (ortholog); autosomal dominant nocturnal frontal lobe epilepsy (ortholog); benign familial infantile seizures 6 (ortholog); FOUND IN presynaptic active zone (ortholog) 8 8 8 22745829 22828705 + 24973644 25053388 + 27773699 27853980 + 30032202 100984879 A0A2R9AS81 MODEL JARIFH010000009;XM_003830780;XM_003830781;XM_034965899;XM_055116400 XP_003830828;XP_003830829;XP_034821790;XP_054972375 A0A2R9AS81 frizzled family receptor 3;frizzled-3 protein-coding ENSPPAG00000032462 8 24973644 25042115 + 11674594 PLCL1 phospholipase C like 1 (inactive) ENCODES a protein that exhibits GABA receptor binding (ortholog); INVOLVED IN gamma-aminobutyric acid signaling pathway (ortholog); regulation of synaptic transmission, GABAergic (ortholog); ASSOCIATED WITH Experimental Liver Neoplasms (ortholog); genetic disease (ortholog); Neurodevelopmental Disorders (ortholog) 2B 2B 2B 100438108 100786717 + 202947931 203286656 + 85054907 85397171 + 22301074;30032202 100985950 A0A2R9CC72;A0A2R9CC78;A0A2R9CCD2;A0A2R9CMZ5 MODEL JARIFH010000003;XM_003825319;XM_034954742;XM_034954743;XM_034954744;XM_034954745;XM_034954746 XP_003825367;XP_034810633;XP_034810634;XP_034810636;XP_034810637 A0A2R9CCD2 inactive phospholipase C-like protein 1;phospholipase C like 1 APPROVED protein-coding ENSPPAG00000042453 2B 202947927 203286649 + 11674604 ARHGEF10L Rho guanine nucleotide exchange factor 10 like ENCODES a protein that exhibits GTPase activator activity (inferred); guanyl-nucleotide exchange factor activity (inferred); INVOLVED IN positive regulation of stress fiber assembly (inferred); SREBP signaling pathway (inferred); ASSOCIATED WITH Cerebral Visual Impairment and Intellectual Disability (ortholog); chromosome 1p36 deletion syndrome (ortholog); genetic disease (ortholog); FOUND IN cytosol (inferred) 1 1 1 208546610 208703944 - 17521036 17697195 + 16486514 16644724 + 22301074;30032202 100986864 A0A2R9C442;A0A2R9C486;A0A2R9C6N5;A0A2R9C6Q2;A0A2R9C6R6;A0A2R9CE42 MODEL JARIFH010000001;XM_008967121;XM_008967122;XM_034956653;XM_034956656;XM_034956660;XM_034956668;XM_034956671;XM_034956677;XM_034956679;XM_034956683;XM_055097496;XM_055097507;XM_055097528;XR_008620853 XP_008965370;XP_034812559;XP_034812562;XP_034812574;XP_054953471;XP_054953482;XP_054953503 A0A2R9C6Q2 rho guanine nucleotide exchange factor 10-like protein-like protein-coding ENSPPAG00000040855 1 17580389 17697195 + 11674673 LOC100987590 glutathione peroxidase 1-like ENCODES a protein that exhibits glutathione peroxidase activity (inferred); oxidoreductase activity (inferred); peroxidase activity (inferred); INVOLVED IN cellular oxidant detoxification (inferred); response to oxidative stress (inferred) X X X 15162042 15163119 - 13275061 13275833 - 5986126 5987229 - 100987590 A0A2R8ZLT7 MODEL JARIFH010000024;XR_001337648 A0A2R8ZLT7 glutathione peroxidase 1 pseudogene APPROVED pseudo ENSPPAG00000020465 11674676 SYS1 SYS1 golgi trafficking protein INVOLVED IN protein transport (inferred); ASSOCIATED WITH focal epilepsy (ortholog); genetic disease (ortholog); multiple sclerosis (ortholog); FOUND IN Golgi apparatus (inferred); Golgi membrane (inferred); membrane (inferred) 20 20 20 51089718 51130166 + 42784190 42790045 + 41694152 41698874 + 22301074;30032202 100988963 A0A2R9BUQ0;A0A2R9BUQ5 MODEL JARIFH010000021;XM_008951345;XM_055104923 XP_008949593;XP_054960898 A0A2R9BUQ0 SYS1 Golgi-localized integral membrane protein homolog;protein SYS1 homolog APPROVED protein-coding ENSPPAG00000039458 20 42784190 42795119 + 11674684 TSPAN17 tetraspanin 17 ENCODES a protein that exhibits enzyme binding (inferred); INVOLVED IN protein maturation (ortholog); ASSOCIATED WITH Chromosome 5, Trisomy 5q (ortholog); Ehlers-Danlos syndrome dermatosparaxis type (ortholog); Ehlers-Danlos syndrome spondylodysplastic type 2 (ortholog); FOUND IN membrane (inferred) 5 5 5 169866781 169881794 + 179015641 179030941 + 171944792 171959797 + 22301074;30032202 100989057 A0A2R9BJR1;A0A2R9BTL4 MODEL JARIFH010000006;XM_003806846;XM_008958068;XM_008958086;XM_008958092;XM_008958098;XM_008958101;XM_034961036 XP_003806894;XP_008956316;XP_008956334;XP_008956340;XP_008956346;XP_008956349;XP_034816927 A0A2R9BJR1 tetraspanin-17 protein-coding ENSPPAG00000037966 5 179015641 179030941 + 11674712 MARK1 microtubule affinity regulating kinase 1 ENCODES a protein that exhibits protein kinase activity (ortholog); INVOLVED IN cytoskeleton organization (ortholog); establishment of mitochondrion localization (ortholog); negative regulation of gene expression (ortholog); ASSOCIATED WITH autistic disorder (ortholog); gastrointestinal stromal tumor (ortholog); genetic disease (ortholog); FOUND IN cytoskeleton (ortholog) 1 1 1 28697135 28833583 - 201150316 201286201 + 196114714 196251166 + 22301074;30032202 100989285 A0A2R9B216;A0A2R9B243;A0A2R9B5W9 MODEL JARIFH010000001;XM_003807176;XM_003807177;XM_008959231;XM_008959232;XM_008959233;XM_034947185;XM_034947200 XP_003807224;XP_003807225;XP_008957479;XP_008957480;XP_008957481;XP_034803091 A0A2R9B216 serine/threonine-protein kinase MARK1 protein-coding ENSPPAG00000034966 1 201150310 201286201 + 11674743 ASZ1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 INVOLVED IN cell differentiation (inferred); male meiotic nuclear division (inferred); meiotic cell cycle (inferred); ASSOCIATED WITH genetic disease (ortholog); pleomorphic xanthoastrocytoma (ortholog); Prostatic Neoplasms (ortholog); FOUND IN cytoplasm (inferred); pi-body (inferred) 7 7 7 6201171 6267635 - 122025741 122091923 - 109330983 109397864 - 22301074;30032202 100989751 A0A2R9C5P5;A0A2R9C604 MODEL JARIFH010000008;XM_003808648;XM_003808649;XM_014345784 XP_003808696 A0A2R9C604 ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1 protein-coding ENSPPAG00000041362 7 122025611 122091923 - 11674764 TMEM120B transmembrane protein 120B ENCODES a protein that exhibits monoatomic ion channel activity (ortholog); INVOLVED IN fat cell differentiation (inferred); protein heterooligomerization (inferred); ASSOCIATED WITH genetic disease (ortholog); FOUND IN membrane (inferred); nuclear inner membrane (inferred) 12 12 12 129796941 129868165 + 122684446 122750359 + 119313865 119380821 + 30032202 100990268 A0A2R9A717;A0A2R9AB41 MODEL JARIFH010000013;XM_034934683;XM_034934684 XP_034790574;XP_034790575 A0A2R9A717 protein-coding ENSPPAG00000029497 12 122684584 122748316 + 11674779 GPR174 G protein-coupled receptor 174 ENCODES a protein that exhibits bioactive lipid receptor activity (inferred); G protein-coupled receptor activity (inferred); INVOLVED IN G protein-coupled receptor signaling pathway (ortholog); T cell homeostasis (ortholog); ASSOCIATED WITH autistic disorder (ortholog); genetic disease (ortholog); syndromic X-linked intellectual disability Lubs type (ortholog); FOUND IN centriolar satellite (inferred); intracellular membrane-bounded organelle (inferred); membrane (inferred) X X X 78688192 78689193 + 78394975 78396220 + 68284983 68286466 + 22301074;30032202 100990772 A0A2R8ZG74 MODEL JARIFH010000024;XM_003824418 XP_003824466 A0A2R8ZG74 probable G-protein coupled receptor 174 protein-coding ENSPPAG00000016269 X 78395005 78396006 + 11674784 DMAC1 distal membrane arm assembly component 1 INVOLVED IN mitochondrial respiratory chain complex I assembly (inferred); ASSOCIATED WITH chromosome 9p deletion syndrome (ortholog); genetic disease (ortholog); FOUND IN mitochondrial respiratory chain complex I (ortholog) 9 9 9 116799330 116800798 + 7767675 7770980 - 7593380 7596687 - 100991665 A0A2R9C224 MODEL JARIFH010000010;XM_003823392;XM_008977030;XM_024930163 XP_003823440;XP_008975278;XP_024785931 A0A2R9C224 TMEM261 distal membrane arm assembly complex 1;distal membrane-arm assembly complex protein 1;transmembrane protein 261 APPROVED protein-coding ENSPPAG00000040685 9 7767678 7770977 - 11674793 LOC100992331 coiled-coil domain-containing protein 121-like X X X 111871145 111873413 + 111949555 111951605 + 101492807 101494655 + 100992331 MODEL JARIFH010000024;XM_008975558 pseudo 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase ENCODES a protein that exhibits alpha-tubulin binding (inferred); histone H3K36 methyltransferase activity (inferred); histone H3K36 trimethyltransferase activity (inferred); INVOLVED IN angiogenesis (ortholog); cell migration involved in vasculogenesis (ortholog); coronary vasculature morphogenesis (ortholog); PARTICIPATES IN histone modification pathway; renal cell carcinoma pathway; ASSOCIATED WITH adenoid cystic carcinoma (ortholog); Agenesis of Corpus Callosum (ortholog); autism spectrum disorder (ortholog); FOUND IN chromosome (inferred); nucleus (inferred) 3 3 3 46977530 47124822 - 48017856 48164007 - 46916615 47064046 - 22301074;30032202 100993006 A0A2R8ZRV9;A0A2R8ZXQ2 MODEL JARIFH010000004;XM_003818444;XM_034956302;XM_034956303;XM_055109801;XR_003027535;XR_004670545;XR_004670546;XR_008624730;XR_008624731 XP_003818492;XP_054965776 A0A2R8ZXQ2 SET domain containing 2;histone-lysine N-methyltransferase SETD2 APPROVED protein-coding ENSPPAG00000027015 3 48018517 48163999 - 11674832 PARD3B par-3 family cell polarity regulator beta INVOLVED IN cell division (inferred); ASSOCIATED WITH genetic disease (ortholog); Neurodevelopmental Disorders (ortholog); primary pulmonary hypertension (ortholog); FOUND IN anchoring junction (inferred); cell junction (inferred); endomembrane system (inferred) 2B 2B 2B 107162377 108236842 + 209914990 210979752 + 91774815 92848957 + 22301074;30032202 100993726 A0A2R9AW77;A0A2R9AWE3;A0A2R9AWE6;A0A2R9AWF8;A0A2R9B081;A0A2R9B086;A0A2R9B091 MODEL JARIFH010000003;XM_003820781;XM_008974231;XM_034954909 XP_003820829;XP_008972479;XP_034810800 A0A2R9B081 par-3 partitioning defective 3 homolog B;partitioning defective 3 homolog B protein-coding ENSPPAG00000033958 2B 210056697 210975405 + 11674860 ARF4 ADP ribosylation factor 4 ENCODES a protein that exhibits epidermal growth factor receptor binding (inferred); GTP binding (inferred); GTPase activity (inferred); INVOLVED IN apical protein localization (ortholog); dendritic spine development (ortholog); epidermal growth factor receptor signaling pathway (ortholog); ASSOCIATED WITH genetic disease (ortholog); Pyruvate Dehydrogenase E1-Beta Deficiency (ortholog); FOUND IN glutamatergic synapse (ortholog) 3 3 3 57544439 57571074 - 58710897 58736315 - 57504701 57530545 - 22301074;30032202 100994155 A0A2R9BC14;A0A2R9BFR6 MODEL JARIFH010000004;XM_003818706 XP_003818754 A0A2R9BFR6 ADP-ribosylation factor 4 protein-coding ENSPPAG00000036638 3 58710897 58736816 - 11674870 PDK3 pyruvate dehydrogenase kinase 3 ENCODES a protein that exhibits ATP binding (inferred); kinase activity (inferred); nucleotide binding (inferred); INVOLVED IN cellular response to fatty acid (inferred); hypoxia-inducible factor-1alpha signaling pathway (inferred); peroxisome proliferator activated receptor signaling pathway (inferred); PARTICIPATES IN pyruvate metabolic pathway; ASSOCIATED WITH autistic disorder (ortholog); Charcot-Marie-Tooth disease (ortholog); Charcot-Marie-Tooth disease X-linked dominant 6 (ortholog); FOUND IN mitochondrial matrix (inferred); mitochondrion (inferred); nucleolus (inferred) X X X 26266679 26352325 + 24430028 24514873 + 17062278 17147489 + 30032202 100995647 A0A2R9CJ87;A0A2R9CS68 MODEL JARIFH010000024;XM_003819583;XR_004668905;XR_008622894 XP_003819631 A0A2R9CS68 pyruvate dehydrogenase kinase, isozyme 3 protein-coding ENSPPAG00000043604 X 24430028 24504730 + 11674886 MEGF10 multiple EGF like domains 10 ENCODES a protein that exhibits complement component C1q complex binding (inferred); Notch binding (inferred); scavenger receptor activity (inferred); INVOLVED IN apoptotic process involved in development (ortholog); engulfment of apoptotic cell (ortholog); recognition of apoptotic cell (ortholog); ASSOCIATED WITH congenital myopathy 10B (ortholog); Deglutition Disorders (ortholog); early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome (ortholog); FOUND IN membrane (inferred); phagocytic cup (inferred); plasma membrane (inferred) 5 5 5 120674719 120910289 + 128466095 128657845 + 122639155 122877324 + 22301074;30032202 100995816 A0A2R9BLD0;A0A2R9BUG2 MODEL JARIFH010000006;XM_003826672;XM_014344998;XM_034960437;XM_034960438;XM_034960439;XM_034960441 XP_003826720;XP_034816328 A0A2R9BUG2 multiple epidermal growth factor-like domains protein 10 protein-coding ENSPPAG00000038100 5 128466095 128641043 + 11674921 LOC103784401 decreased expression in renal and prostate cancer protein-like X X X 46222591 46272025 + 44882691 44891536 + 37063597 37072884 + 103784401 MODEL JARIFH010000024 chromosome transmission fidelity protein 8 homolog isoform 2 pseudogene;chromosome transmission fidelity protein 8 homolog pseudogene APPROVED pseudo 11674931 LOC103786457 protein phosphatase 1 regulatory subunit 14B-like 4 4 4 137378615 137381734 - 142788390 142789133 - 131478036 131479178 - 22301074;30032202 103786457 MODEL JARIFH010000005;XM_034959160 XP_034815051 APPROVED protein-coding 11674938 LOC100967368 heterogeneous nuclear ribonucleoprotein H2-like 6 6 6 177713145 177720995 - 162607061 162609399 - 157594041 157598503 - 100967368 MODEL JARIFH010000007 pseudo 11674939 ARL13B ADP ribosylation factor like GTPase 13B ENCODES a protein that exhibits GTP binding (inferred); GTPase activity (inferred); nucleotide binding (inferred); INVOLVED IN cilium assembly (ortholog); determination of left/right symmetry (ortholog); dorsal/ventral pattern formation (ortholog); ASSOCIATED WITH autosomal recessive thrombophilia due to protein S deficiency (ortholog); cystic kidney disease (ortholog); genetic disease (ortholog); FOUND IN axoneme (ortholog); ciliary membrane (ortholog); motile cilium (ortholog) 3 3 3 91895366 91974311 + 97725136 97799932 + 91044332 91121686 + 22301074;30032202 100967371 A0A2R8ZLF1;A0A2R8ZLF5 MODEL JARIFH010000004;XM_003807880;XM_014344303;XM_034956971;XM_034956972;XM_034956973;XM_055110172 XP_014199789;XP_034812862;XP_034812863;XP_034812864;XP_054966147 A0A2R8ZLF1 ADP-ribosylation factor-like protein 13B protein-coding ENSPPAG00000023593 3 97725136 97799932 + 11674959 ATG10 autophagy related 10 ENCODES a protein that exhibits Atg12 transferase activity (ortholog); INVOLVED IN positive regulation of protein modification process (ortholog); PARTICIPATES IN autophagy pathway; ASSOCIATED WITH Breast Neoplasms (ortholog); genetic disease (ortholog); Neurodevelopmental Disorders (ortholog) 5 5 5 31205637 31516727 - 33345591 33632229 - 33029074 33315496 - 30032202 100967589 A0A2R9ASJ3;A0A2R9AWH2 MODEL JARIFH010000006;XM_003822249;XM_008975785;XM_034959850;XM_034959851;XM_055112242;XM_057302265 XP_003822297;XP_054968217;XP_057158248 A0A2R9AWH2 ubiquitin-like-conjugating enzyme ATG10 protein-coding ENSPPAG00000033287 5 33348306 33615883 - 11674977 LOC100967887 peptidyl-prolyl cis-trans isomerase A-like 17 17 17 26482262 26484711 - 17146688 17147178 - 16921540 16922438 - 100967887 MODEL JARIFH010000018 peptidyl-prolyl cis-trans isomerase A pseudogene APPROVED pseudo 11674978 ACSM6 acyl-CoA synthetase medium chain family member 6 ASSOCIATED WITH genetic disease (ortholog) 10 10 10 107098986 107132848 + 95309060 95341767 + 91800561 91834123 + 30032202 100968187 A0A2R9BHQ8 MODEL JARIFH010000011;XM_003825391;XM_055093169;XM_057298958 XP_054949144;XP_057154941 A0A2R9BHQ8 acyl-CoA synthetase medium-chain family member 6;acyl-coenzyme A synthetase ACSM6, mitochondrial APPROVED protein-coding ENSPPAG00000037620 10 95309060 95341767 + 11674993 GCKR glucokinase regulator ENCODES a protein that exhibits carbohydrate binding (ortholog); enzyme binding (ortholog); enzyme inhibitor activity (ortholog); INVOLVED IN intracellular glucose homeostasis (ortholog); negative regulation of hexokinase activity (ortholog); protein import into nucleus (ortholog); PARTICIPATES IN glycogen metabolic pathway; ASSOCIATED WITH end stage renal disease (ortholog); genetic disease (ortholog); Hypertriglyceridemia (ortholog); FOUND IN cytoplasm (ortholog) 2A 2A 2A 98991561 99020392 - 27587077 27613927 + 27497938 27530650 + 22301074;30032202 100968660 A0A2R8ZJS9 MODEL JARIFH010000002;XM_003827113;XM_034952847 XP_003827161 A0A2R8ZJS9 protein-coding ENSPPAG00000021734 2A 27587077 27613927 + 11675016 TSHZ3 teashirt zinc finger homeobox 3 ENCODES a protein that exhibits chromatin binding (inferred); DNA binding (inferred); metal ion binding (inferred); INVOLVED IN in utero embryonic development (ortholog); kidney morphogenesis (ortholog); kidney smooth muscle cell differentiation (ortholog); ASSOCIATED WITH autism spectrum disorder (ortholog); genetic disease (ortholog); Neurodevelopmental Disorders (ortholog); FOUND IN growth cone (ortholog) 19 19 19 39245269 39319798 - 36946685 37021525 - 28195740 28270265 - 22301074;30032202 100969039 A0A2R9BA29;A0A2R9BHU6 MODEL JARIFH010000020;XM_003816213 XP_003816261 A0A2R9BA29 teashirt homolog 3 protein-coding ENSPPAG00000036336 19 36946685 37021531 - 11675026 FRS2 fibroblast growth factor receptor substrate 2 ENCODES a protein that exhibits fibroblast growth factor receptor binding (inferred); neurotrophin TRKA receptor binding (inferred); transmembrane receptor protein tyrosine kinase adaptor activity (inferred); INVOLVED IN anterior/posterior axis specification, embryo (ortholog); cellular response to fibroblast growth factor stimulus (ortholog); fibroblast growth factor receptor signaling pathway (ortholog); PARTICIPATES IN brain-derived neurotrophic factor signaling pathway; fibroblast growth factor signaling pathway; ASSOCIATED WITH genetic disease (ortholog); renal cell carcinoma (ortholog); FOUND IN adherens junction (inferred); cell-cell junction (inferred); cytoplasm (inferred) 12 12 12 77493983 77609107 + 69767526 69878293 + 66992207 67107313 + 30032202 100971618 A0A2R8ZYP7;A0A2R9A319 MODEL JARIFH010000013;XM_003808723;XM_003808725;XM_014347234;XM_014347235;XM_055095889;XM_055095890;XM_055095891;XM_055095892;XM_055095893;XM_055095894;XM_055095895;XM_055095896 XP_003808771;XP_003808773;XP_014202720;XP_014202721;XP_054951864;XP_054951865;XP_054951866;XP_054951867;XP_054951868;XP_054951869;XP_054951870;XP_054951871 A0A2R8ZYP7 protein-coding ENSPPAG00000028068 12 69829435 69878293 + 11675046 ADM2 adrenomedullin 2 ENCODES a protein that exhibits hormone activity (inferred); protein-containing complex binding (inferred); INVOLVED IN adenylate cyclase-activating G protein-coupled receptor signaling pathway (ortholog); feeding behavior (ortholog); negative regulation of blood pressure (ortholog); ASSOCIATED WITH autism spectrum disorder (ortholog); chromosome 22q13 duplication syndrome (ortholog); congenital disorder of glycosylation Ig (ortholog); FOUND IN extracellular region (inferred) 22 22 22 63092660 63099138 + 49715342 49719989 + 30729236 30734801 + 30032202 100971642 A0A2R9BM82 MODEL JARIFH010000023;XM_003811022;XM_034948687;XM_057301000 XP_034804578;XP_057156983 A0A2R9BM82 protein-coding ENSPPAG00000037772 22 49715342 49719989 + 11675052 SPRR4 small proline rich protein 4 ASSOCIATED WITH gastrointestinal stromal tumor (ortholog); genetic disease (ortholog); immunodeficiency 42 (ortholog) 1 1 1 96624994 96626909 - 131942089 131945294 + 128312047 128315258 + 100971695 A0A2R8ZLP2 MODEL JARIFH010000001;XM_034949738;XM_057302543 XP_057158526 A0A2R8ZLP2 small proline-rich protein 4 protein-coding ENSPPAG00000015490 1 131944611 131944856 + 11675058 PATL1 PAT1 homolog 1, processing body mRNA decay factor ENCODES a protein that exhibits poly(G) binding (inferred); poly(U) RNA binding (inferred); RNA binding (inferred); INVOLVED IN deadenylation-dependent decapping of nuclear-transcribed mRNA (inferred); P-body assembly (inferred); PARTICIPATES IN microRNA pathway; ASSOCIATED WITH genetic disease (ortholog); intellectual disability (ortholog); leukocyte adhesion deficiency 3 (ortholog); FOUND IN CCR4-NOT complex (ortholog) 11 11 11 61811229 61843150 - 58311230 58342561 - 54861349 54893279 - 30032202 100971961 A0A2R9AYD9;A0A2R9AYS4 MODEL JARIFH010000012;XM_003826361;XM_008951792;XM_008951793 XP_003826409;XP_008950041 A0A2R9AYS4 protein-coding ENSPPAG00000034275 11 58311235 58342561 - 11675085 MAPK15 mitogen-activated protein kinase 15 ENCODES a protein that exhibits ATP binding (inferred); chromatin binding (inferred); kinase activity (inferred); INVOLVED IN negative regulation of DNA replication (ortholog); negative regulation of transcription by RNA polymerase II (ortholog); positive regulation of protein catabolic process (ortholog); ASSOCIATED WITH breast cancer (ortholog); Brown-Vialetto-Van Laere syndrome 2 (ortholog); epidermolysis bullosa simplex with muscular dystrophy (ortholog); FOUND IN axoneme (ortholog) 8 8 8 136716178 136722428 + 143482245 143488498 + 140468365 140474604 + 22301074;30032202 100972270 A0A2R9BF42;A0A2R9BG92 MODEL JARIFH010000009;XM_003819448;XM_034966817;XM_055116045 XP_003819496;XP_054972020 A0A2R9BF42 protein-coding ENSPPAG00000037186 8 143481567 143492859 + 11675117 KIRREL3 kirre like nephrin family adhesion molecule 3 INVOLVED IN glomerulus morphogenesis (ortholog); inter-male aggressive behavior (ortholog); neuron migration (ortholog); ASSOCIATED WITH autism spectrum disorder (ortholog); autosomal dominant intellectual developmental disorder 4 (ortholog); Chromosome 11, Partial Trisomy 11q (ortholog); FOUND IN synaptic vesicle (ortholog) 11 11 11 128213408 128798315 - 125146563 125726452 - 121236962 121821806 - 30032202 100972723 A0A2R8ZKP1;A0A2R8ZKQ5;A0A2R8ZLQ3;A0A2R8ZLS9;A0A2R8ZLT5;A0A2R8ZRT5 MODEL JARIFH010000012;XM_008973315;XM_008973316;XM_034934016;XM_034934017;XM_034934018;XM_034934020;XM_055095063 XP_008971563;XP_008971564;XP_034789907;XP_034789908;XP_034789909;XP_034789911;XP_054951038 A0A2R8ZLS9 kin of IRRE like 3;kin of IRRE like 3 (Drosophila);kin of IRRE-like protein 3 APPROVED protein-coding ENSPPAG00000022839 11 125146563 125723504 - 11675148 PRKCE protein kinase C epsilon ENCODES a protein that exhibits protein kinase binding (ortholog); protein serine/threonine kinase binding (ortholog); SH3 domain binding (ortholog); INVOLVED IN cell-substrate adhesion (ortholog); cellular response to ethanol (ortholog); cellular response to hypoxia (ortholog); PARTICIPATES IN eicosanoid signaling pathway; endothelin signaling pathway; interleukin-2 signaling pathway; ASSOCIATED WITH Cardiomegaly (ortholog); cardiomyopathy (ortholog); Colorectal Neoplasms (ortholog); FOUND IN glutamatergic synapse (ortholog); Golgi apparatus (ortholog); Golgi membrane (ortholog) 2A 2A 2A 80218154 80754448 - 46688109 47223421 + 45757629 46294064 + 22301074;30032202 100974922 A0A2R9AUU7;A0A2R9AUV5;A0A2R9AUW0 MODEL JARIFH010000002;XM_003822657;XM_034953057;XM_034953058;XM_055108017 XP_003822705;XP_034808949;XP_054963992 A0A2R9AUU7 protein-coding ENSPPAG00000032966 2A 46688436 47220313 + 11675173 TMED1 transmembrane p24 trafficking protein 1 INVOLVED IN protein transport (inferred); ASSOCIATED WITH alpha-mannosidosis (ortholog); Charcot-Marie-Tooth disease dominant intermediate B (ortholog); episodic ataxia type 2 (ortholog); FOUND IN endoplasmic reticulum (inferred); endoplasmic reticulum membrane (inferred); endoplasmic reticulum-Golgi intermediate compartment (inferred) 19 19 19 14751212 14755086 - 11107511 11111744 - 10386041 10389905 - 30032202 100975183 A0A2R9AJK0;A0A2R9ANK4;A0A2R9AQV5 MODEL JARIFH010000020;XM_003830479;XM_034944910 XP_003830527;XP_034800801 A0A2R9AJK0 transmembrane emp24 domain-containing protein 1;transmembrane emp24 protein transport domain containing 1 protein-coding ENSPPAG00000031704 19 11107511 11111744 - 11675181 LOC100975187 non-POU domain-containing octamer-binding protein-like 16 16 16 85218864 85221267 - 69518389 69521026 - 50135895 50138254 - 100975187 MODEL JARIFH010000017;XR_611082 non-POU domain-containing octamer-binding protein pseudogene APPROVED pseudo 11675187 LOC100976163 polyadenylate-binding protein 1-like 2 ENCODES a protein that exhibits nucleic acid binding (inferred); RNA binding (inferred); ASSOCIATED WITH autistic disorder (ortholog); Cornelia de Lange syndrome 5 (ortholog); syndromic X-linked intellectual disability Lubs type (ortholog) X X X 72676971 72679844 + 72365306 72367599 + 62242922 62246300 + 30032202 100976163 A0A2R8ZDB5 MODEL JARIFH010000024;XM_014343486 XP_014198972 A0A2R8ZDB5 PABPC1L2A;PABPC1L2B poly(A) binding protein cytoplasmic 1 like 2A;poly(A) binding protein cytoplasmic 1 like 2B APPROVED protein-coding ENSPPAG00000012920 11675193 LOC100977117 40S ribosomal protein S18-like 1 1 1 22053755 22054734 - 207878140 207878594 + 202892454 202892961 + 100977117 MODEL JARIFH010000001 40S ribosomal protein S18 pseudogene APPROVED pseudo 11675194 LOC100978288 UDP-glucuronosyltransferase 2A2-like 4 4 4 61188405 61191403 + 61590687 61592938 + 55134629 55137465 + 100978288 MODEL JARIFH010000005 UDP-glucuronosyltransferase 2A1-like APPROVED pseudo 11675195 MUC4 mucin 4, cell surface associated ENCODES a protein that exhibits ErbB-2 class receptor binding (ortholog); protein-containing complex binding (ortholog); INVOLVED IN cellular response to insulin stimulus (ortholog); cellular response to transforming growth factor beta stimulus (ortholog); digestive tract development (ortholog); ASSOCIATED WITH allergic conjunctivitis (ortholog); Bile Duct Neoplasms (ortholog); biliary tract benign neoplasm (ortholog); FOUND IN apical plasma membrane (ortholog); extracellular space (ortholog); microvillus membrane (ortholog) 3 3 193650060 193721162 - 193050895 193114931 - 22301074;30032202 100978833 MODEL JARIFH010000004;XM_034955652;XM_055111009 XP_054966984 mucin-4 protein-coding 11675200 LOC100979859 CCR4-NOT transcription complex subunit 7-like 1 1 1 107817107 107819511 + 122045668 122046493 - 86996550 86997346 - 100979859 MODEL JARIFH010000001 CCR4-NOT transcription complex subunit 7 pseudogene APPROVED pseudo 11675201 ESR1 estrogen receptor 1 ENCODES a protein that exhibits calmodulin binding (ortholog); DNA binding (ortholog); enzyme binding (ortholog); INVOLVED IN androgen metabolic process (ortholog); antral ovarian follicle growth (ortholog); baculum development (ortholog); PARTICIPATES IN bisphenol A response pathway; estrogen signaling pathway; follicle-stimulating hormone signaling pathway; ASSOCIATED WITH adenocarcinoma (ortholog); Alzheimer's disease (ortholog); Animal Disease Models (ortholog); FOUND IN perikaryon (ortholog); perinuclear region of cytoplasm (ortholog); plasma membrane (ortholog) 6 6 6 169722942 170016810 + 154200521 154635806 + 149507599 149918523 + 22301074 100980011 A0A2R8ZPH1;A0A2R8ZPH4;A0A2R8ZSJ5;A1YGA5;A1YGA6;A1YGA7;B6CK15 MODEL DQ977249;EU213014;JARIFH010000007;XM_003811496;XM_024929279;XM_055114250;XM_057302612 ABM54330;ABM54331;ABM54332;ABY64716;XP_024785047;XP_054970225;XP_057158595 B6CK15 estrogen receptor;estrogen receptor alpha protein-coding ENSPPAG00000025747 6 154317002 154631551 + 11675226 PQBP1 polyglutamine binding protein 1 ENCODES a protein that exhibits GTPase binding (ortholog); INVOLVED IN positive regulation of non-motile cilium assembly (ortholog); regulation of dendrite morphogenesis (ortholog); regulation of RNA splicing (ortholog); ASSOCIATED WITH atrial heart septal defect (ortholog); autism spectrum disorder (ortholog); autistic disorder (ortholog); FOUND IN centrosome (ortholog); ciliary base (ortholog) X X X 50383075 50395640 + 49046351 49058587 + 41188244 41200312 + 22301074;30032202 100980569 A0A2R9BQC2;A0A2R9BQD1;A0A2R9BZD8 MODEL DQ977309;JARIFH010000024;XM_034949786;XM_034949787;XM_034949788;XM_034949789;XM_034949790;XM_034949791;XM_055106164;XM_055106165;XM_055106166;XM_055106167;XM_055106168;XM_055106169;XM_055106170 XP_054962139;XP_054962140;XP_054962141;XP_054962142;XP_054962143;XP_054962144;XP_054962145 A0A2R9BQC2 polyglutamine-binding protein 1 protein-coding ENSPPAG00000038832 X 49053030 49058585 + 11675253 MRE11 MRE11 homolog, double strand break repair nuclease ENCODES a protein that exhibits DNA binding (ortholog); DNA helicase activity (ortholog); INVOLVED IN cell population proliferation (ortholog); chromosome organization (ortholog); DNA damage response (ortholog); PARTICIPATES IN altered p53 signaling pathway; ataxia telangiectasia-mutated (ATM) signaling pathway; homologous recombination pathway of double-strand break repair; ASSOCIATED WITH Alzheimer's disease (ortholog); Animal Disease Models (ortholog); ataxia telangiectasia (ortholog); FOUND IN BRCA1-C complex (ortholog); chromatin (ortholog); chromosome, telomeric region (ortholog) 11 11 11 96350676 96432591 - 92908403 92985966 - 89418537 89500705 - 22301074;30032202 100981052 A0A2R9B1A5;A0A2R9B1H8;A0A2R9B302;A0A2R9B5A6;A0A2R9B7T0 MODEL JARIFH010000012;XM_008966413 XP_008964661 A0A2R9B1H8 MRE11A MRE11 homolog A, double strand break repair nuclease;MRE11 meiotic recombination 11 homolog A;double-strand break repair protein MRE11;double-strand break repair protein MRE11A protein-coding ENSPPAG00000034731 11 92918549 92985966 - 11675277 RNASEH2A ribonuclease H2 subunit A ENCODES a protein that exhibits endonuclease activity (inferred); hydrolase activity (inferred); metal ion binding (inferred); INVOLVED IN mismatch repair (ortholog); ASSOCIATED WITH Aicardi-Goutieres syndrome (ortholog); Aicardi-Goutieres Syndrome 4 (ortholog); alpha-mannosidosis (ortholog); FOUND IN ribonuclease H2 complex (ortholog) 19 19 19 16733877 16742964 + 13112242 13119514 + 12363721 12375316 + 22301074;30032202 100982527 A0A2R9A386 MODEL JARIFH010000020;XM_003814822;XM_034944744 XP_003814870 A0A2R9A386 protein-coding ENSPPAG00000028092 19 13112242 13119514 + 11675289 EI24 EI24 autophagy associated transmembrane protein ENCODES a protein that exhibits importin-alpha family protein binding (inferred); INVOLVED IN autophagy (ortholog); cellular response to UV-C (ortholog); intrinsic apoptotic signaling pathway in response to DNA damage (ortholog); ASSOCIATED WITH Chromosome 11, Partial Trisomy 11q (ortholog); Dwarfism (ortholog); genetic disease (ortholog); FOUND IN cytosol (inferred); endoplasmic reticulum (inferred); Golgi apparatus (inferred) 11 11 11 127362564 127377780 + 124302289 124317346 + 120389136 120404347 + 30032202 100983318 A0A2R9A0K9;A0A2R9A4X4;A0A2R9A4X9 MODEL JARIFH010000012;XM_003819916;XM_034933990;XM_034933991;XM_034933992;XM_034933993;XM_034933994;XM_034933995;XM_055095044;XM_055095045 XP_003819964;XP_034789886;XP_054951019;XP_054951020 A0A2R9A4X4 etoposide induced 2.4 mRNA;etoposide-induced protein 2.4 homolog APPROVED protein-coding ENSPPAG00000028595 11 124302289 124317346 + 11675304 HTR3B 5-hydroxytryptamine receptor 3B ENCODES a protein that exhibits extracellular ligand-gated monoatomic ion channel activity (inferred); ligand-gated monoatomic ion channel activity (inferred); monoatomic ion channel activity (inferred); INVOLVED IN cellular response to growth factor stimulus (ortholog); positive regulation of ion transmembrane transporter activity (ortholog); ASSOCIATED WITH alcohol use disorder (ortholog); Chromosome 11, Partial Trisomy 11q (ortholog); Cocaine-Related Disorders (ortholog); FOUND IN axon (ortholog); cell surface (ortholog); neuronal cell body (ortholog) 11 11 11 115746061 115787844 + 112624935 112667552 + 108783514 108825266 + 22301074;30032202 100984587 A0A2R8ZVD5;A0A2R8ZWJ3;A0A2R8ZYV5;B3VRK6;B3VRL1;B3VRL6;B3VRM1;B3VRM6;B3VRN1;B3VRN6;B3VRP1;B3VRP6 MODEL EU796520;EU796525;EU796530;EU796535;EU796540;EU796545;EU796555;EU796560;JARIFH010000012;XM_003805483;XM_034933736;XM_034933737;XM_034933738;XM_055094858;XM_055094859;XM_055094860 ACE96224;ACE96229;ACE96239;ACE96244;ACE96249;ACE96254;ACE96259;ACE96264;XP_034789627;XP_034789629;XP_054950833;XP_054950834;XP_054950835 A0A2R8ZWJ3 5-hydroxytryptamine (serotonin) receptor 3B protein-coding ENSPPAG00000027697 11 112624864 112671439 + 11675317 BLTP1 bridge-like lipid transfer protein family member 1 INVOLVED IN endocytic recycling (ortholog); endosomal transport (ortholog); phagocytosis (ortholog); ASSOCIATED WITH Alkuraya-Kucinskas syndrome (ortholog); clubfoot (ortholog); Dandy-Walker syndrome (ortholog); FOUND IN membrane (inferred) 4 4 4 120211324 120423747 + 125482532 125694099 + 114346807 114558993 + 30032202 100985893 A0A2R9CIN8;A0A2R9CIP3;A0A2R9CIP8 MODEL JARIFH010000005;XM_003816409;XM_008969477;XM_008969479;XM_008969480;XM_024928495;XM_034959109;XM_055111801;XM_055111802;XM_055111803 XP_003816457;XP_008967725;XP_008967727;XP_008967728;XP_024784263;XP_054967776;XP_054967777;XP_054967778 A0A2R9CIP3 KIAA1109 KIAA1109 ortholog;transmembrane protein KIAA1109 homolog;uncharacterized protein KIAA1109 homolog APPROVED protein-coding ENSPPAG00000043504 4 125482532 125694099 + 11675412 KCTD19 potassium channel tetramerization domain containing 19 INVOLVED IN male meiotic nuclear division (inferred); protein homooligomerization (inferred); ASSOCIATED WITH autosomal dominant dyskeratosis congenita 6 (ortholog); Cerebral Visual Impairment and Intellectual Disability (ortholog); genetic disease (ortholog); FOUND IN nucleus (inferred) 16 16 16 82731348 82768754 - 67023849 67061230 - 47634636 47671934 - 22301074 100985974 A0A2R9BV82 MODEL JARIFH010000017;XM_003812200;XM_008964599;XM_034940420 XP_003812248;XP_008962847 A0A2R9BV82 BTB/POZ domain-containing protein KCTD19;potassium channel tetramerisation domain containing 19 protein-coding ENSPPAG00000039548 16 67023847 67061230 - 11675436 ELOVL1 ELOVL fatty acid elongase 1 ENCODES a protein that exhibits fatty acid elongase activity (inferred); transferase activity (inferred); INVOLVED IN ceramide biosynthetic process (inferred); establishment of skin barrier (inferred); fatty acid biosynthetic process (inferred); ASSOCIATED WITH Charcot-Marie-Tooth disease dominant intermediate C (ortholog); genetic disease (ortholog); ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES (ortholog); FOUND IN endoplasmic reticulum (inferred); endoplasmic reticulum membrane (inferred); membrane (inferred) 1 1 1 182566350 182588012 + 44044693 44064111 - 42664818 42686475 - 22301074;30032202 100986082 A0A2R9CAN2;A0A2R9CAQ8;A0A2R9CDD6 MODEL JARIFH010000001;XM_003812843;XM_008965347;XM_034962968;XM_034962976;XM_034962986;XM_034962990;XM_034963012 XP_003812891;XP_008963595;XP_034818859;XP_034818867;XP_034818903 A0A2R9CAN2 elongation of very long chain fatty acids protein 1 protein-coding ENSPPAG00000042208 1 44044693 44048769 - 11675461 GPR183 G protein-coupled receptor 183 ENCODES a protein that exhibits G protein-coupled receptor activity (inferred); oxysterol binding (inferred); INVOLVED IN leukocyte chemotaxis (ortholog); ASSOCIATED WITH adult T-cell leukemia/lymphoma (ortholog); Anal Atresia, Hypospadias, and Penoscrotal Inversion (ortholog); genetic disease (ortholog); FOUND IN membrane (inferred); plasma membrane (inferred) 13 13 13 99485636 99498792 - 99600695 99613671 - 80461908 80475046 - 22301074;30032202 100986764 A0A2R9AV50 MODEL JARIFH010000014;XM_003832048 XP_003832096 A0A2R9AV50 G-protein coupled receptor 183 protein-coding ENSPPAG00000032560 13 99601220 99602305 - 11675467 HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ENCODES a protein that exhibits carboxylic acid binding (ortholog); fatty-acyl-CoA binding (ortholog); hydroxymethylglutaryl-CoA lyase activity (ortholog); INVOLVED IN acyl-CoA metabolic process (ortholog); ketone body biosynthetic process (ortholog); liver development (ortholog); PARTICIPATES IN 3-hydroxy-3-methylglutaryl-CoA lyase deficiency pathway; 3-hydroxyisobutyric aciduria pathway; 3-methylcrotonyl CoA carboxylase 1 deficiency pathway; ASSOCIATED WITH 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (ortholog); amino acid metabolic disorder (ortholog); Experimental Diabetes Mellitus (ortholog); FOUND IN mitochondrion (inferred); peroxisome (inferred); protein-containing complex (inferred) 1 1 1 202217925 202242196 + 23977723 24016262 - 22993489 23017307 - 22301074;30032202 100987057 A0A2R9B522;A0A2R9BA57 MODEL JARIFH010000001;XM_008963127;XM_034958057 XP_008961375;XP_034813948 A0A2R9B522 3-hydroxymethyl-3-methylglutaryl-CoA lyase;hydroxymethylglutaryl-CoA lyase, mitochondrial APPROVED protein-coding ENSPPAG00000035201 1 23977723 24001150 - 11675484 PHKA1 phosphorylase kinase regulatory subunit alpha 1 ENCODES a protein that exhibits calmodulin binding (inferred); INVOLVED IN protein autophosphorylation (ortholog); PARTICIPATES IN glycogen degradation pathway; ASSOCIATED WITH autistic disorder (ortholog); Cornelia de Lange syndrome 5 (ortholog); Experimental Diabetes Mellitus (ortholog); FOUND IN phosphorylase kinase complex (ortholog) X X X 72258746 72389672 - 71900762 72033055 - 61816613 61949179 - 30032202 100987241 A0A2R9CAQ3;A0A2R9CAR3;A0A2R9CAS6;A0A2R9CAX2;A0A2R9CDI2 MODEL JARIFH010000024;XM_003805251;XM_003805252;XM_034949513 XP_003805299;XP_003805300 A0A2R9CAQ3 phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform protein-coding ENSPPAG00000042021 X 71900762 72033055 - 11675523 LOC100987372 glycine cleavage system H protein, mitochondrial INVOLVED IN glycine decarboxylation via glycine cleavage system (inferred); FOUND IN glycine cleavage complex (inferred); mitochondrial matrix (inferred); mitochondrion (inferred) 6 6 6 132653834 132654473 + 116626247 116627309 + 112555685 112556804 + 22301074;30032202 100987372 A0A2R8ZB44;A0A2R8ZLR5 MODEL JARIFH010000007;XM_034962732 XP_034818623 A0A2R8ZB44 glycine cleavage system H protein, mitochondrial pseudogene APPROVED protein-coding ENSPPAG00000010276 11675526 LOC100987643 nucleolar protein 56-like 6 6 6 39408569 39415683 - 29263575 29268693 - 28595816 28596318 - 100987643 MODEL JARIFH010000007;XM_034963338;XM_055114396 XP_054970371 protein-coding 11675533 CENPW centromere protein W ENCODES a protein that exhibits DNA binding (inferred); protein heterodimerization activity (inferred); INVOLVED IN chromosome organization (inferred); chromosome segregation (inferred); kinetochore assembly (inferred); ASSOCIATED WITH COVID-19 (ortholog); genetic disease (ortholog); hepatocellular carcinoma (ortholog); FOUND IN inner kinetochore (ortholog) 6 6 6 144236946 144245466 + 128242724 128389393 + 124125492 124272450 + 22301074;30032202 100988191 A0A2R8ZWY7 MODEL JARIFH010000007;XM_003827617;XM_008952960;XM_034962817;XR_608687 XP_003827665;XP_008951208;XP_034818708 A0A2R8ZWY7 protein-coding ENSPPAG00000027985 6 128242724 128251528 + 11675548 SMIM19 small integral membrane protein 19 ASSOCIATED WITH genetic disease (ortholog); Idiopathic Basal Ganglia Calcification 1 (ortholog); IMMUNODEFICIENCY 15 (ortholog); FOUND IN membrane (inferred) 8 8 8 36710528 36723858 + 39229768 39241096 + 41785396 41799520 + 100988498 A0A2R9B4S7 MODEL JARIFH010000009;XM_003823283;XM_008976907;XM_008976908;XM_034966022;XM_034966023 XP_003823331;XP_008975155;XP_008975156;XP_034821913;XP_034821914 A0A2R9B4S7 UPF0697 protein C8orf40-like protein-coding ENSPPAG00000035427 8 39229944 39241096 + 11675561 LOC100992969 luteinizing hormone subunit beta ENCODES a protein that exhibits hormone activity (inferred); signaling receptor binding (inferred); INVOLVED IN luteinizing hormone signaling pathway involved in ovarian follicle development (ortholog); organic cyclic compound metabolic process (ortholog); FOUND IN cytoplasm (ortholog) 19 19 19 57069851 57078655 + 54738139 54739424 + 46053779 46055250 + 22301074;30032202 100992969 A0A2R9AZ24 MODEL JARIFH010000020;XM_003814299;XM_024926733 XP_003814347;XP_024782501 LHB choriogonadotropin subunit beta 3;choriogonadotropin subunit beta variant 2;luteinizing hormone beta polypeptide;lutropin subunit beta APPROVED protein-coding ENSPPAG00000034358 19 54738139 54739424 + 11675573 ATCAY ATCAY kinesin light chain interacting caytaxin ENCODES a protein that exhibits kinesin binding (inferred); INVOLVED IN mitochondrion distribution (ortholog); ASSOCIATED WITH amenorrhea (ortholog); Ataxia (ortholog); Cayman type cerebellar ataxia (ortholog); FOUND IN axon (ortholog); dendrite (ortholog); mitochondrion (ortholog) 19 19 19 7509355 7557069 + 3854423 3900175 + 2905615 2953079 + 30032202 100993248 A0A2R9C6I2;A0A2R9CH40 MODEL JARIFH010000020;XM_008972621 XP_008970869 A0A2R9C6I2 ATCAY, caytaxin;caytaxin APPROVED protein-coding ENSPPAG00000041506 19 3854423 3900175 + 11675591 FKBPL FKBP prolyl isomerase like INVOLVED IN regulation of angiogenesis (ortholog); regulation of blood vessel branching (ortholog); ASSOCIATED WITH Breast Neoplasms (ortholog); genetic disease (ortholog); JMP syndrome (ortholog); FOUND IN extracellular region (inferred) 6 6 6 42552747 42555261 - 32656077 32657714 - 31775596 31777862 - 22301074 100993686 A0A2R8ZQ12 MODEL JARIFH010000007;XM_003829778;XM_034961800 XP_003829826;XP_034817691 A0A2R8ZQ12 FK506 binding protein like;FK506-binding protein-like APPROVED protein-coding ENSPPAG00000024362 6 32656101 32657150 - 11675597 SF3A3 splicing factor 3a subunit 3 ENCODES a protein that exhibits metal ion binding (inferred); nucleic acid binding (inferred); RNA binding (inferred); INVOLVED IN mRNA processing (inferred); mRNA splicing, via spliceosome (inferred); RNA splicing (inferred); PARTICIPATES IN spliceosome pathway; ASSOCIATED WITH Charcot-Marie-Tooth disease dominant intermediate C (ortholog); genetic disease (ortholog); human immunodeficiency virus infectious disease (ortholog); FOUND IN U2-type spliceosomal complex (ortholog) 1 1 1 187976253 188010323 + 38578225 38612009 - 37230553 37264167 - 22301074;30032202 100995276 A0A2R9AX82;A0A2R9AXA9;A0A2R9AXF3 MODEL JARIFH010000001;XM_003815480;XM_034961670 XP_003815528;XP_034817561 A0A2R9AX82 protein-coding ENSPPAG00000034066 1 38575122 38612009 - 11675618 GPR75 G protein-coupled receptor 75 ENCODES a protein that exhibits C-C chemokine receptor activity (inferred); G protein-coupled receptor activity (inferred); INVOLVED IN chemokine-mediated signaling pathway (inferred); G protein-coupled receptor signaling pathway (inferred); signal transduction (inferred); ASSOCIATED WITH genetic disease (ortholog); FOUND IN membrane (inferred) 2A 2A 2A 72502488 72513270 + 54908210 54915172 - 53996008 54003134 - 22301074;30032202 100995672 A0A2R8Z785 MODEL JARIFH010000002;XM_008976286 XP_008974534 A0A2R8Z785 probable G-protein coupled receptor 75 protein-coding ENSPPAG00000002907 2A 54908736 54910358 - 11675624 LOC100995884 60S ribosomal protein L13a-like 21 21 21 16409834 16414140 + 25165703 25166380 + 11817846 11818519 + 100995884 MODEL JARIFH010000022;XR_611914 60S ribosomal protein L13a pseudogene APPROVED pseudo 11675647 LOC103786210 uncharacterized LOC103786210 6 6 6 13639696 13644777 - 2950306 2952076 - 2847973 2849593 - 103786210 MODEL JARIFH010000007;XM_034961371 HIV Tat-specific factor 1 pseudogene;HIV Tat-specific factor 1-like APPROVED pseudo 11675651 SULT4A1 sulfotransferase family 4A member 1 ENCODES a protein that exhibits identical protein binding (inferred); sulfotransferase activity (inferred); transferase activity (inferred); INVOLVED IN dendrite arborization (ortholog); sulfur compound metabolic process (ortholog); ASSOCIATED WITH genetic disease (ortholog); intellectual disability (ortholog); Phelan-McDermid syndrome (ortholog); FOUND IN cytosol (inferred); mitochondrion (inferred) 22 22 22 56345149 56383037 - 42905463 42922260 - 24712960 24751078 - 22301074;30032202 100967863 A0A2R8ZD32;A0A2R8ZJD3;A0A2R8ZJD6 MODEL JARIFH010000023;XM_034949167 XP_034805058 A0A2R8ZJD3 sulfotransferase 4A1 protein-coding ENSPPAG00000011850 22 42906959 42927236 - 11675664 LOC100967937 keratin, type I cytoskeletal 18-like 6 6 6 30254387 30255660 + 19791674 19792947 + 19443864 19445137 + 100967937 MODEL JARIFH010000007 keratin, type I cytoskeletal 18 pseudogene APPROVED pseudo 11675665 SRSF6 serine and arginine rich splicing factor 6 ENCODES a protein that exhibits nucleic acid binding (inferred); pre-mRNA binding (inferred); RNA binding (inferred); INVOLVED IN negative regulation of gene expression (ortholog); negative regulation of type B pancreatic cell apoptotic process (ortholog); positive regulation of epithelial cell proliferation involved in lung morphogenesis (ortholog); PARTICIPATES IN spliceosome pathway; ASSOCIATED WITH clear cell renal cell carcinoma (ortholog); colon adenocarcinoma (ortholog); Epidermal Hyperplasia (ortholog); FOUND IN nuclear speck (inferred) 20 20 20 49186976 49196276 + 40888396 40892152 + 39795659 39801864 + 30032202 100968653 A0A2R9AZ20 MODEL JARIFH010000021;XM_034947742;XR_004668329 XP_034803633 A0A2R9AZ20 serine/arginine-rich splicing factor 6 protein-coding ENSPPAG00000034327 20 40888560 40891853 + 11675675 LOC100968681 rootletin-like 1 1 1 204615761 204642086 - 21396118 21593454 + 20614153 20629064 + 100968681 MODEL JARIFH010000001;XR_004665817 LOC117975430 PROVISIONAL pseudo 11675688 TMEM235 transmembrane protein 235 ASSOCIATED WITH genetic disease (ortholog); FOUND IN apical plasma membrane (ortholog); cytoplasm (ortholog) 17 17 17 99111226 99135104 + 77855519 77869262 + 72308950 72319358 + 30032202 100970565 MODEL JARIFH010000018;XM_034943001;XM_034943002;XM_055101112;XM_055101113;XM_057300227 XP_034798892;XP_054957087;XP_054957088;XP_057156210 LOC117976630 uncharacterized LOC117976630;uncharacterized protein LOC117976630 PROVISIONAL protein-coding 11675699 FBXL22 F-box and leucine rich repeat protein 22 ENCODES a protein that exhibits ubiquitin protein ligase activity (ortholog); INVOLVED IN proteasome-mediated ubiquitin-dependent protein catabolic process (ortholog); ASSOCIATED WITH Bloom syndrome (ortholog); colorectal cancer (ortholog); genetic disease (ortholog); FOUND IN cytosol (ortholog); nucleolus (ortholog); SCF ubiquitin ligase complex (ortholog) 15 15 15 57021343 57030221 + 60837032 60841840 + 42543909 42548938 + 22301074 100971645 A0A2R9CGD1;A0A2R9CQL4 MODEL JARIFH010000016;XM_003827944;XM_034938898 XP_003827992;XP_034794789 A0A2R9CGD1 F-box and leucine-rich protein 22 protein-coding ENSPPAG00000043136 15 60837032 60841829 + 11675705 TYROBP transmembrane immune signaling adaptor TYROBP ENCODES a protein that exhibits identical protein binding (inferred); molecular adaptor activity (inferred); protein homodimerization activity (inferred); INVOLVED IN actin cytoskeleton organization (ortholog); apoptotic cell clearance (ortholog); forebrain development (ortholog); ASSOCIATED WITH Brugada syndrome 5 (ortholog); Experimental Liver Cirrhosis (ortholog); genetic disease (ortholog); FOUND IN cell surface (ortholog) 19 19 19 43887571 43891929 - 41570674 41575226 - 32821279 32825488 - 30032202 100972146 A0A2R9C1E2;A0A2R9C1E7 MODEL JARIFH010000020;XM_003816159;XM_008969139;XM_034944962 XP_003816207;XP_008967387;XP_034800853 A0A2R9C1E2 APPROVED protein-coding ENSPPAG00000039154 19 41570683 41575226 - 11675717 DACH2 dachshund family transcription factor 2 INVOLVED IN development of primary female sexual characteristics (ortholog); ASSOCIATED WITH autistic disorder (ortholog); genetic disease (ortholog); syndromic X-linked intellectual disability Lubs type (ortholog) X X X 85630619 86304083 + 85327909 85999966 + 75219009 75892280 + 100972761 MODEL JARIFH010000024;XM_008978153;XM_008978155;XM_034950560;XM_055106836 XP_034806451;XP_054962811 dachshund homolog 2 protein-coding 11675739 CRYL1 crystallin lambda 1 ENCODES a protein that exhibits L-gulonate 3-dehydrogenase activity (inferred); NAD+ binding (inferred); oxidoreductase activity (inferred); INVOLVED IN fatty acid metabolic process (inferred); glucuronate catabolic process to xylulose 5-phosphate (inferred); ASSOCIATED WITH autosomal dominant nonsyndromic deafness 3B (ortholog); autosomal recessive nonsyndromic deafness 1A (ortholog); autosomal recessive nonsyndromic deafness 1B (ortholog); FOUND IN cytosol (ortholog) 13 13 13 11145280 11267611 - 20043630 20165344 - 1729724 1852031 - 22301074;30032202 100972837 A0A2R9CGF8;A0A2R9CGM3;A0A2R9CJ69 MODEL JARIFH010000014;XM_003833015;XM_003833016;XM_008958502;XM_034936391;XM_055097136 XP_003833063;XP_008956750;XP_054953111 A0A2R9CJ69 lambda-crystallin homolog protein-coding ENSPPAG00000043148 13 20043630 20165344 - 11675762 MIDEAS mitotic deacetylase associated SANT domain protein ASSOCIATED WITH genetic disease (ortholog); intellectual disability (ortholog); primary ciliary dyskinesia 16 (ortholog); FOUND IN nucleoplasm (inferred); nucleus (inferred) 14 14 14 74021639 74097183 - 73130955 73206272 - 54274444 54349983 - 30032202 100973459 A0A2R9CFM7 MODEL JARIFH010000015;XM_014347602;XM_034937787;XM_034937788;XM_034937789;XM_034937790;XM_034937791;XM_055097824 XP_014203088;XP_034793679;XP_034793680;XP_034793681;XP_054953799 A0A2R9CFM7 ELMSAN1 ELM2 and Myb/SANT domain containing 1;ELM2 and SANT domain-containing protein 1 APPROVED protein-coding ENSPPAG00000043022 14 73130955 73176626 - 11675792 ARHGAP42 Rho GTPase activating protein 42 ENCODES a protein that exhibits GTPase activator activity (inferred); INVOLVED IN negative regulation of Rho protein signal transduction (ortholog); negative regulation of systemic arterial blood pressure (ortholog); negative regulation of vascular associated smooth muscle contraction (ortholog); ASSOCIATED WITH ataxia telangiectasia (ortholog); genetic disease (ortholog); intellectual disability (ortholog); FOUND IN cytoplasm (inferred) 11 11 11 102585722 102891915 + 99159631 99463457 + 95655874 95962003 + 22301074;30032202 100974516 A0A2R9CG68;A0A2R9CGB4;A0A2R9CIT5 MODEL JARIFH010000012;XM_003828397;XM_034933583;XM_034933584 XP_003828445 A0A2R9CIT5 rho GTPase-activating protein 42 protein-coding ENSPPAG00000043081 11 99159634 99460060 + 11675825 SNAPC4 small nuclear RNA activating complex polypeptide 4 ENCODES a protein that exhibits DNA binding (inferred); RNA polymerase II general transcription initiation factor activity (inferred); RNA polymerase III general transcription initiation factor activity (inferred); INVOLVED IN snRNA transcription by RNA polymerase II (inferred); snRNA transcription by RNA polymerase III (inferred); PARTICIPATES IN RNA polymerase III transcription pathway; ASSOCIATED WITH Adams-Oliver Syndrome 5 (ortholog); autosomal dominant intellectual developmental disorder 8 (ortholog); autosomal dominant nocturnal frontal lobe epilepsy 5 (ortholog); FOUND IN nucleus (inferred); snRNA-activating protein complex (inferred) 9 9 9 2988380 3013308 + 136427943 136452868 - 107448180 107473022 - 100975328 A0A2R9BEA4;A0A2R9BIB2 MODEL JARIFH010000010;XM_014346344;XM_034929511;XM_034929512;XM_034929513 XP_014201830;XP_034785402;XP_034785403;XP_034785404 A0A2R9BEA4 snRNA-activating protein complex subunit 4 protein-coding ENSPPAG00000036391 9 136428732 136450653 - 11675853 PPIL1 peptidylprolyl isomerase like 1 ENCODES a protein that exhibits cyclosporin A binding (inferred); disordered domain specific binding (inferred); isomerase activity (inferred); INVOLVED IN embryonic brain development (inferred); mRNA splicing, via spliceosome (inferred); protein folding (inferred); PARTICIPATES IN spliceosome pathway; ASSOCIATED WITH genetic disease (ortholog); JMP syndrome (ortholog); microcephaly (ortholog); FOUND IN catalytic step 2 spliceosome (inferred); nucleus (inferred); spliceosomal complex (inferred) 6 6 6 47193377 47213655 - 37612722 37632942 - 36417086 36437259 - 22301074;30032202 100976464 A0A2R9ATX8 MODEL JARIFH010000007;XM_003818895 XP_003818943 A0A2R9ATX8 peptidyl-prolyl cis-trans isomerase-like 1 protein-coding ENSPPAG00000033612 6 37612724 37632942 - 11675861 RDH12 retinol dehydrogenase 12 ENCODES a protein that exhibits NAD-retinol dehydrogenase activity (inferred); NADP-retinol dehydrogenase activity (inferred); INVOLVED IN cellular detoxification of aldehyde (inferred); retinol metabolic process (inferred); visual perception (inferred); PARTICIPATES IN altered retinoid cycle metabolic pathway; retinitis pigmentosa pathway; retinoid cycle metabolic pathway; ASSOCIATED WITH cone-rod dystrophy (ortholog); Eye Abnormalities (ortholog); fundus dystrophy (ortholog); FOUND IN photoreceptor inner segment (inferred) 14 14 14 68049366 68061408 + 67180696 67192345 + 48297854 48314502 + 100976717 A0A2R9C7Y4 MODEL JARIFH010000015;XM_008977798;XM_008977799 XP_008976046;XP_008976047 A0A2R9C7Y4 retinol dehydrogenase 12 (all-trans/9-cis/11-cis) APPROVED protein-coding ENSPPAG00000041689 14 67180696 67192345 + 11675873 CLVS1 clavesin 1 ENCODES a protein that exhibits phosphatidylinositol-3,5-bisphosphate binding (inferred); INVOLVED IN lysosome organization (ortholog); ASSOCIATED WITH CHARGE syndrome (ortholog); genetic disease (ortholog); FOUND IN clathrin-coated vesicle (ortholog); trans-Golgi network (ortholog) 8 8 8 52599254 52816033 + 59414746 59630784 + 57703459 57921997 + 30032202 100977373 A0A2R9ASN8 MODEL JARIFH010000009;XM_003805105 XP_003805153 A0A2R9ASN8 clavesin-1 protein-coding ENSPPAG00000033393 8 59252291 59630784 + 11675883 ZNF174 zinc finger protein 174 ENCODES a protein that exhibits DNA-binding transcription factor activity (inferred); protein homodimerization activity (inferred); sequence-specific DNA binding (inferred); INVOLVED IN negative regulation of DNA-templated transcription (inferred); negative regulation of transcription by RNA polymerase II (inferred); ASSOCIATED WITH epilepsy (ortholog); genetic disease (ortholog); idiopathic generalized epilepsy (ortholog); FOUND IN fibrillar center (inferred); nuclear body (inferred); nucleus (inferred) 16 16 16 7712425 7720683 + 3501164 3509258 + 2324551 2332736 + 100977671 A0A2R9ASF3;A1YFW3 MODEL DQ977164;JARIFH010000017;XM_003815145;XM_008968029 ABM54188;XP_003815193;XP_008966277 A0A2R9ASF3 protein-coding ENSPPAG00000032009 16 3501164 3509258 + 11675900 MRPL14 mitochondrial ribosomal protein L14 ENCODES a protein that exhibits structural constituent of ribosome (inferred); INVOLVED IN translation (inferred); ASSOCIATED WITH genetic disease (ortholog); FOUND IN mitochondrial large ribosomal subunit (inferred); mitochondrion (inferred); ribonucleoprotein complex (inferred) 6 6 6 54488802 54502562 - 44995198 45008987 - 43710184 43724199 - 22301074;30032202 100977802 A0A2R9BD85 MODEL JARIFH010000007;XM_003833233;XM_034962172;XM_034962174 XP_003833281 A0A2R9BD85 39S ribosomal protein L14, mitochondrial protein-coding ENSPPAG00000036858 6 44995198 45008987 - 11675910 TBL2 transducin beta like 2 ENCODES a protein that exhibits phosphoprotein binding (inferred); protein kinase binding (inferred); translation initiation factor binding (inferred); INVOLVED IN cellular response to glucose starvation (inferred); cellular response to hypoxia (inferred); endoplasmic reticulum unfolded protein response (inferred); ASSOCIATED WITH autism spectrum disorder (ortholog); autistic disorder (ortholog); COVID-19 (ortholog); FOUND IN endoplasmic reticulum (inferred) 7 7 139587669 139598916 + 80721616 80730685 - 22301074;30032202 100978011 A0A2R9AMM1;A0A2R9AN86;A0A2R9AS06;A0A2R9AUL3 MODEL JARIFH010000008;XM_008968531;XM_008968532;XM_008968534;XM_008968535;XM_008968536;XM_008968537;XM_034951399;XM_055114504;XM_055114505 XP_008966780;XP_034807290;XP_054970479;XP_054970480 A0A2R9AS06 transducin beta-like protein 2 protein-coding ENSPPAG00000032412 7 80721616 80730685 - 11675946 LOC100981009 60S ribosomal protein L7-like 1 16 16 16 38544855 38550581 - 30908278 30909328 - 24430316 24431473 + 100981009 MODEL JARIFH010000017 pseudo 11675947 RNF133 ring finger protein 133 INVOLVED IN protein autoubiquitination (ortholog); ASSOCIATED WITH genetic disease (ortholog); pleomorphic xanthoastrocytoma (ortholog); FOUND IN endoplasmic reticulum membrane (ortholog) 7 7 7 11578350 11582965 - 127391684 127393125 - 114707995 114709482 - 100982257 MODEL JARIFH010000008;XM_003808632;XM_055115344 XP_054971319 E3 ubiquitin-protein ligase RNF133 protein-coding 11675952 AP1S2 adaptor related protein complex 1 subunit sigma 2 ENCODES a protein that exhibits clathrin adaptor activity (inferred); INVOLVED IN adipose tissue development (ortholog); establishment of localization in cell (ortholog); fat cell differentiation (ortholog); ASSOCIATED WITH autistic disorder (ortholog); Experimental Liver Cirrhosis (ortholog); Fanconi anemia (ortholog); FOUND IN intracellular membrane-bounded organelle (ortholog); synapse (ortholog) X X X 17625917 17655154 - 15807475 15835938 - 8449885 8478932 - 22301074;30032202 100983447 A0A2R9CCQ6;A0A2R9CCR2;A0A2R9CCX9;A0A2R9CFC4 MODEL JARIFH010000024;XM_034949935;XM_034949936;XM_034949937;XM_034949938;XM_055106770;XM_055106771;XR_004668795;XR_004668796;XR_008622882;XR_008622883;XR_008622884 XP_034805828;XP_054962745;XP_054962746 A0A2R9CCQ6 AP-1 complex subunit sigma-2;adaptor related protein complex 1 sigma 2 subunit APPROVED protein-coding ENSPPAG00000042543 X 15807476 15836172 - 11675975 HTRA1 HtrA serine peptidase 1 ENCODES a protein that exhibits molecular function activator activity (ortholog); INVOLVED IN chorionic trophoblast cell differentiation (ortholog); dentinogenesis (ortholog); negative regulation of BMP signaling pathway (ortholog); ASSOCIATED WITH age related macular degeneration (ortholog); age related macular degeneration 7 (ortholog); CADASIL (ortholog); FOUND IN collagen-containing extracellular matrix (ortholog) 10 10 10 134322279 134375624 + 122437914 122495281 + 119030409 119083682 + 22301074;30032202 100984844 A0A2R8ZBR0 MODEL JARIFH010000011;XM_034931635 XP_034787526 A0A2R8ZBR0 serine protease HTRA1 protein-coding ENSPPAG00000000055 10 122441098 122494733 + 11675989 AVPI1 arginine vasopressin induced 1 INVOLVED IN positive regulation of MAPK cascade (ortholog); ASSOCIATED WITH genetic disease (ortholog); Lung Neoplasms (ortholog) 10 10 10 109591236 109600844 - 97789444 97799081 - 94294365 94303970 - 100985048 A0A2R9ARR5 MODEL JARIFH010000011;XM_003825436 XP_003825484 A0A2R9ARR5 arginine vasopressin-induced protein 1 protein-coding ENSPPAG00000033222 10 97789444 97798935 - 11675996 THBS3 thrombospondin 3 ENCODES a protein that exhibits calcium ion binding (inferred); heparin binding (inferred); INVOLVED IN bone trabecula formation (ortholog); growth plate cartilage development (ortholog); ossification involved in bone maturation (ortholog); ASSOCIATED WITH Charcot-Marie-Tooth disease type 2 (ortholog); gastrointestinal stromal tumor (ortholog); genetic disease (ortholog); FOUND IN extracellular region (inferred); perinuclear region of cytoplasm (inferred) 1 1 1 94366817 94379866 + 134148468 134160245 - 130540486 130553534 - 22301074 100985431 A0A2R9CM44;A0A2R9CM60;A0A2R9CM69;A0A2R9CM74;A0A2R9CP20;A0A2R9CTG4 MODEL JARIFH010000001;XM_003817059;XM_008970210;XM_008970212;XM_008970213;XM_055100773;XM_055100786;XM_055100791;XM_055100795;XM_055100802;XM_055100805;XM_055100807;XM_055100810;XM_057300138;XR_004665980 XP_003817107;XP_008968458;XP_008968460;XP_008968461;XP_054956748;XP_054956761;XP_054956766;XP_054956770;XP_054956777;XP_054956780;XP_054956782;XP_054956785;XP_057156121 A0A2R9CM69 thrombospondin-3 protein-coding ENSPPAG00000044068 1 134148468 134160245 - 11676038 RPS29 ribosomal protein S29 ENCODES a protein that exhibits RNA binding (inferred); structural constituent of ribosome (inferred); zinc ion binding (inferred); INVOLVED IN cytoplasmic translation (ortholog); positive regulation of apoptotic process (ortholog); PARTICIPATES IN ribosome biogenesis pathway; translation pathway; ASSOCIATED WITH Brain-Lung-Thyroid Syndrome (ortholog); Diamond-Blackfan anemia 13 (ortholog); genetic disease (ortholog); FOUND IN cytoplasmic side of rough endoplasmic reticulum membrane (ortholog); cytosolic small ribosomal subunit (ortholog); polysomal ribosome (ortholog) 14 14 14 49918405 49927519 - 48459215 48474644 - 30155559 30164677 - 22301074;30032202 100985883 A0A2R9AK38;A0A2R9APT3;A0A2R9APU2;A0A2R9AS94 MODEL JARIFH010000015;XM_003831748;XM_003831749 XP_003831796;XP_003831797 A0A2R9APU2 LOC106635480 40S ribosomal protein S29;60S ribosomal protein L32 pseudogene;60S ribosomal protein L32-like PROVISIONAL protein-coding ENSPPAG00000031971 11676050 LOC100986063 argininosuccinate synthase-like 9 9 9 77343212 77344622 + 77029145 77030398 + 46668565 46669884 - 100986063 MODEL JARIFH010000010 LOC129393084 argininosuccinate synthase pseudogene PROVISIONAL pseudo 11676051 LSM14A LSM14A mRNA processing body assembly factor ENCODES a protein that exhibits double-stranded DNA binding (ortholog); double-stranded RNA binding (ortholog); single-stranded RNA binding (ortholog); INVOLVED IN defense response to virus (ortholog); mitotic spindle assembly (ortholog); negative regulation of translation (ortholog); ASSOCIATED WITH genetic disease (ortholog); hereditary spastic paraplegia 75 (ortholog); FOUND IN cytoplasm (ortholog); cytoplasmic ribonucleoprotein granule (ortholog); cytoplasmic stress granule (ortholog) 19 19 19 42148734 42209496 + 39831117 39891803 + 31099211 31159930 + 30032202 100986218 A0A2R9CDQ6;A0A2R9CDR2;A0A2R9CDT6;A0A2R9CDU8;A0A2R9CDX1;A0A2R9CP42;A0A2R9CP56 MODEL JARIFH010000020;XM_003816189;XM_003816190;XM_008969244;XM_034946474;XM_055104180 XP_003816237;XP_003816238;XP_034802365;XP_054960155 A0A2R9CDX1 LSM14A, SCD6 homolog A;LSM14A, mRNA processing body assembly factor APPROVED protein-coding ENSPPAG00000042618 19 39831117 39891794 + 11676085 LPL lipoprotein lipase ENCODES a protein that exhibits lipoprotein lipase activity (ortholog); triglyceride binding (ortholog); INVOLVED IN lipid catabolic process (ortholog); negative regulation of cellular response to insulin stimulus (ortholog); response to bacterium (ortholog); PARTICIPATES IN D-glycericacidemia pathway; familial lipoprotein lipase deficiency pathway; glycerol kinase deficiency pathway; ASSOCIATED WITH abdominal obesity-metabolic syndrome 1 (ortholog); Alcoholic Liver Diseases (ortholog); Animal Mammary Neoplasms (ortholog); FOUND IN catalytic complex (ortholog); extracellular space (ortholog) 8 8 8 14146772 14174992 + 16113415 16142113 + 19164541 19193100 + 22301074;30032202 100986925 A0A2R8ZTC4 MODEL JARIFH010000009;XM_003823626 XP_003823674 A0A2R8ZTC4 protein-coding ENSPPAG00000026199 8 16113415 16142966 + 11676099 RNF214 ring finger protein 214 ENCODES a protein that exhibits metal ion binding (inferred); ASSOCIATED WITH CD3epsilon deficiency (ortholog); Chromosome 11, Partial Trisomy 11q (ortholog); Dwarfism (ortholog) 11 11 11 119037886 119093591 + 116002040 116054289 + 112066666 112121051 + 30032202 100987463 A0A2R9C4P8;A0A2R9C4R3 MODEL JARIFH010000012;XM_034933792;XM_034933793;XM_055094911 XP_034789683;XP_054950886 A0A2R9C4P8 protein-coding ENSPPAG00000041137 11 116002034 116054282 + 11676117 LOC100988670 histone H2A type 1 ENCODES a protein that exhibits enzyme binding (ortholog); ASSOCIATED WITH adenoid cystic carcinoma (ortholog); genetic disease (ortholog); multiple myeloma (ortholog); FOUND IN chromosome (inferred); nucleosome (inferred); nucleus (inferred) 6 6 6 38508547 38511006 + 28369843 28370588 + 27695226 27696385 + 22301074;30032202 100988670 A0A2R8ZHX8;A0A2R8ZPT0 MODEL JARIFH010000007;XM_003829691 XP_003829739 A0A2R8ZHX8;A0A2R8ZPT0 protein-coding ENSPPAG00000010106;ENSPPAG00000017563;ENSPPAG00000024546;ENSPPAG00000025965 6 28342376 28342768 - 11676122 LOC100988689 60S ribosomal protein L7-like 12 12 12 24532967 24534181 + 19477692 19478499 + 19091972 19092788 + 100988689 MODEL JARIFH010000013;XR_611429 60S ribosomal protein L7 pseudogene APPROVED pseudo 11676125 DPH6 diphthamine biosynthesis 6 ENCODES a protein that exhibits ATP binding (inferred); diphthine-ammonia ligase activity (inferred); ligase activity (inferred); INVOLVED IN protein histidyl modification to diphthamide (inferred); ASSOCIATED WITH Bloom syndrome (ortholog); colorectal cancer (ortholog); genetic disease (ortholog) 15 15 15 28747480 28923028 - 32554276 32729455 - 14293746 14469331 - 30032202 100988692 A0A2R8Z9F9;A0A2R8ZG56 MODEL JARIFH010000016;XM_003816713;XM_008969819 XP_003816761;XP_008968067 A0A2R8ZG56 ATPBD4 ATP binding domain 4;diphthine--ammonia ligase protein-coding ENSPPAG00000007244 15 32554276 32729455 - 11676141 FOXB2 forkhead box B2 ASSOCIATED WITH genetic disease (ortholog) 9 9 9 76188253 76189640 + 75875871 75877272 + 47822895 47824296 - 30032202 100989086 MODEL JARIFH010000010;XM_003811461 XP_003811509 forkhead box protein B2 protein-coding 11676145 LOC100990228 golgin subfamily A member 2-like 15 15 15 55671326 55678377 - 59493786 59517354 - 41195045 41204566 - 100990228 MODEL JARIFH010000016;XM_034938343 pseudo 11676146 MAP3K9 mitogen-activated protein kinase kinase kinase 9 ENCODES a protein that exhibits ATP binding (inferred); kinase activity (inferred); MAP kinase kinase kinase activity (inferred); INVOLVED IN positive regulation of apoptotic process (ortholog); positive regulation of cellular process (ortholog); PARTICIPATES IN c-Jun N-terminal kinases MAPK signaling pathway; ASSOCIATED WITH genetic disease (ortholog); melanoma (ortholog) 14 14 14 71057529 71143961 - 70180583 70266544 - 51310565 51396994 - 22301074;30032202 100990426 A0A2R8ZX22;A0A2R8ZX37;A0A2R8ZX43;A0A2R8ZZF8;A0A2R9A1I1 MODEL JARIFH010000015;XM_014347632;XM_034937736;XM_034937737 XP_014203118;XP_034793627 A0A2R8ZZF8 protein-coding ENSPPAG00000027733 14 70188444 70266460 - 11676162 LOC100990438 AKT-interacting protein-like 5 5 5 84348700 84350448 - 91750795 91751952 - 86220445 86222278 - 100990438 A0A2R9BCX7 MODEL JARIFH010000006;XM_034960243 XP_034816134 A0A2R9BCX7 AKT-interacting protein pseudogene APPROVED protein-coding ENSPPAG00000036803 11676165 CCDC179 coiled-coil domain containing 179 ASSOCIATED WITH genetic disease (ortholog); intellectual disability (ortholog) 11 11 11 25106921 25110591 - 22761523 22774994 - 22854459 22868598 - 100991464 MODEL JARIFH010000012;XM_008955902 XP_008954150 coiled-coil domain-containing protein 179 protein-coding 11676173 C1S complement C1s ENCODES a protein that exhibits calcium ion binding (inferred); endopeptidase activity (inferred); hydrolase activity (inferred); INVOLVED IN glial cell differentiation (ortholog); response to cAMP (ortholog); ASSOCIATED WITH autoimmune disease (ortholog); autoimmune hepatitis (ortholog); Complement Component C1s Deficiency (ortholog); FOUND IN extracellular region (ortholog) 12 12 12 12623083 12634100 + 7107214 7117614 + 7191679 7202036 + 22301074;30032202 100991971 A0A2R9CEQ3;A0A2R9CER8;A0A2R9CEU6 MODEL JARIFH010000013;XM_003820262;XM_034935263 XP_003820310 A0A2R9CEU6 complement C1s subcomponent protein-coding ENSPPAG00000042864 12 7106157 7117614 + 11676202 LOC100993929 60S ribosomal protein L17-like 6 6 6 98355020 98357889 - 81544517 81545075 - 78273477 78274603 - 100993929 MODEL JARIFH010000007 60S ribosomal protein L17 pseudogene APPROVED pseudo 11676203 MROH1 maestro heat like repeat family member 1 ASSOCIATED WITH Brown-Vialetto-Van Laere syndrome 2 (ortholog); epidermolysis bullosa simplex with muscular dystrophy (ortholog); genetic disease (ortholog) 8 8 8 137165635 137277673 + 143904956 144015354 + 140912479 141024345 + 22301074;30032202 100994053 A0A2R9A927;A0A2R9A997;A0A2R9AAA7;A0A2R9AE43;A0A2R9AEL0 MODEL JARIFH010000009;XM_014346050;XM_034966891;XM_034966892;XM_034966893;XM_034966894;XM_034966896;XM_034966897;XM_034966898;XM_034966899;XM_034966900;XM_034966901;XM_034966902;XM_055116080;XM_055116081;XM_055116082;XM_055116083;XM_055116084;XM_055116085;XM_055116086;XM_055116087;XM_055116088;XM_055116089;XR_004673143 XP_014201536;XP_034822784;XP_034822785;XP_034822787;XP_034822788;XP_034822789;XP_034822791;XP_034822792;XP_034822793;XP_054972055;XP_054972056;XP_054972057;XP_054972058;XP_054972059;XP_054972060;XP_054972061;XP_054972062;XP_054972063;XP_054972064 A0A2R9A927 maestro heat-like repeat-containing protein family member 1 protein-coding ENSPPAG00000029926 8 143920577 144017616 + 11676279 MAGEB3 MAGE family member B3 ASSOCIATED WITH autistic disorder (ortholog); Duchenne muscular dystrophy (ortholog); genetic disease (ortholog) X X X 32032430 32035236 + 30391137 30392631 + 22820432 22837556 + 30032202 100995916 MODEL JARIFH010000024;XM_034949984;XM_055106410 XP_054962385 melanoma-associated antigen B3 protein-coding 11676284 LOC103783060 uncharacterized LOC103783060 2A 2A 2A 100213687 100223926 - 26387040 26397854 + 26293914 26308349 + 103783060 MODEL JARIFH010000002;XR_004669755;XR_008624404;XR_608573 ncrna 11676293 CCDC182 coiled-coil domain containing 182 INVOLVED IN female gonad development (inferred) 17 17 17 78729696 78730715 - 56680726 56681562 - 51822901 51823865 - 103785906 A0A2R8ZAF5 MODEL JARIFH010000018;XM_008970597 XP_008968845 A0A2R8ZAF5 coiled-coil domain-containing protein 182 protein-coding ENSPPAG00000008466 17 56681050 56681511 - 11676298 LOC106633918 60S ribosomal protein L26-like 1 1 1 83614403 83615538 - 145039631 145040068 + 141250730 141251600 + 106633918 MODEL JARIFH010000001 pseudo 11676299 LOC106634175 dnaJ homolog subfamily C member 9-like 20 20 20 11471215 11482372 - 10557279 10558614 - 10557512 10559330 - 30032202 106634175 MODEL JARIFH010000021;XM_034947446 XP_034803337 dnaJ homolog subfamily C member 9 pseudogene APPROVED protein-coding ENSPPAG00000032821 11676300 LOC100967310 YTH domain-containing family protein 2-like 14 14 14 39762403 39770046 + 38342579 38344676 + 19982497 19989509 + 100967310 MODEL JARIFH010000015;XR_609439 YTH domain-containing family protein 2 pseudogene APPROVED pseudo 11676303 C11H11orf21 chromosome 11 C11orf21 homolog ASSOCIATED WITH B-Cell Chronic Lymphocytic Leukemia (ortholog); delta beta-thalassemia (ortholog); developmental and epileptic encephalopathy (ortholog) 11 11 11 3930208 3937261 - 2360625 2367715 - 2332841 2348227 - 100967432 A0A2R8ZYV2;A0A2R8ZZZ9 MODEL JARIFH010000012;XM_008969088 XP_008967336 A0A2R8ZYV2 chromosome 11 open reading frame, human C11orf21;uncharacterized protein C11orf21 homolog APPROVED protein-coding ENSPPAG00000028313 11 2361217 2367568 - 11676314 MMACHC metabolism of cobalamin associated C ENCODES a protein that exhibits cobalamin binding (inferred); cyanocobalamin reductase (cyanide-eliminating) activity (inferred); demethylase activity (inferred); INVOLVED IN cobalamin metabolic process (inferred); demethylation (inferred); glutathione metabolic process (inferred); ASSOCIATED WITH atypical hemolytic-uremic syndrome (ortholog); Charcot-Marie-Tooth disease dominant intermediate C (ortholog); developmental and epileptic encephalopathy (ortholog); FOUND IN cytosol (ortholog) 1 1 1 180437231 180450202 - 46160364 46171672 + 44802724 44811893 + 30032202 100968335 A0A2R9CDN8 MODEL JARIFH010000001;XM_003812792;XM_024929459 XP_003812840;XP_024785227 A0A2R9CDN8 cyanocobalamin reductase / alkylcobalamin dealkylase;methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria APPROVED protein-coding ENSPPAG00000042689 1 46160364 46171662 + 11676322 ANP32B acidic nuclear phosphoprotein 32 family member B ENCODES a protein that exhibits histone binding (inferred); RNA polymerase binding (inferred); INVOLVED IN inner ear development (ortholog); negative regulation of apoptotic process (ortholog); positive regulation of cell population proliferation (ortholog); PARTICIPATES IN CRM1 export pathway; ASSOCIATED WITH congenital disorder of glycosylation Ii (ortholog); congenital disorder of glycosylation type II (ortholog); congenital myasthenic syndrome 14 (ortholog); FOUND IN nucleolus (ortholog) 9 9 9 41441855 41479153 - 97198447 97228536 + 69075972 69108178 + 30032202 100970112 A0A2R9C114 MODEL JARIFH010000010;XM_034967850;XM_034967851 XP_034823741 A0A2R9C114 acidic leucine-rich nuclear phosphoprotein 32 family member B protein-coding ENSPPAG00000040611 9 97207823 97228542 + 11676333 MRPL23 mitochondrial ribosomal protein L23 ENCODES a protein that exhibits structural constituent of ribosome (inferred); INVOLVED IN translation (inferred); ASSOCIATED WITH Beckwith-Wiedemann syndrome (ortholog); delta beta-thalassemia (ortholog); developmental and epileptic encephalopathy (ortholog); FOUND IN fibrillar center (ortholog); mitochondrial large ribosomal subunit (ortholog); mitochondrial ribosome (ortholog) 11 11 11 3585070 3600569 + 2018942 2028025 + 1988470 1997722 + 22301074;30032202 100970207 A0A2R9AYS2;A0A2R9AYS9;A0A2R9B2S5;A0A2R9B4V0 MODEL JARIFH010000012;XM_003816067;XM_055093963;XM_055093964;XM_057299060 XP_003816115;XP_054949938;XP_054949939;XP_057155043 A0A2R9B2S5 LOC100970207 39S ribosomal protein L23, mitochondrial APPROVED protein-coding ENSPPAG00000034414 11 2018942 2055546 + 11676342 LOC100970595 eukaryotic translation initiation factor 4B-like 10 10 10 33717983 33721090 + 21488086 21489897 + 21190086 21192807 + 100970595 MODEL JARIFH010000011 pseudo 11676344 ILKAP ILK associated serine/threonine phosphatase ENCODES a protein that exhibits protein serine/threonine phosphatase activity (ortholog); INVOLVED IN protein dephosphorylation (ortholog); regulation of nuclear cell cycle DNA replication (ortholog); PARTICIPATES IN integrin mediated signaling pathway; ASSOCIATED WITH Bethlem Myopathy 1 (ortholog); chromosome 2q37 deletion syndrome (ortholog); D-2-hydroxyglutaric aciduria 1 (ortholog) 2B 2B 2B 140817949 140851383 - 244253970 244278317 - 125403220 125436614 - 22301074;30032202 100970982 A0A2R9CG99;A0A2R9CGB5;A0A2R9CGG6 MODEL JARIFH010000003;XM_024927924;XM_034955471;XM_057301553 XP_034811362;XP_057157536 A0A2R9CGB5 integrin-linked kinase-associated serine/threonine phosphatase 2C protein-coding ENSPPAG00000043125 2B 244253970 244278317 - 11676359 LOC100971151 transcription factor SOX-5-like 8 8 8 80737878 80739930 - 86450181 86451233 - 84493057 84494164 - 100971151 MODEL JARIFH010000009 transcription factor SOX-5 pseudogene APPROVED pseudo 11676360 LOC100971600 interleukin-6 receptor subunit alpha-like 9 9 9 49364772 49376811 + 89219352 89231270 - 61176520 61188560 - 100971600 MODEL JARIFH010000010 interleukin-6 receptor subunit alpha pseudogene APPROVED pseudo 11676361 TNFSF4 TNF superfamily member 4 ENCODES a protein that exhibits tumor necrosis factor receptor superfamily binding (ortholog); INVOLVED IN acute inflammatory response (ortholog); CD4-positive, alpha-beta T cell costimulation (ortholog); cellular response to nitrogen dioxide (ortholog); ASSOCIATED WITH 1q24 Deletion Syndrome (ortholog); antithrombin III deficiency (ortholog); autoimmune lymphoproliferative syndrome (ortholog); FOUND IN cell surface (ortholog) 1 1 1 75929208 76396416 + 152391450 152699026 - 148684689 148989775 - 22301074;30032202 100971741 A0A2R8Z7R3;A0A2R9AKM1;A0A2R9ALB6 MODEL JARIFH010000001;XM_003824669;XM_008978314;XM_008978315;XM_008978316;XM_008978319;XM_034940844;XM_034940853;XM_055111470;XM_055111488;XM_055111496;XM_057302085;XR_004666958;XR_008625165;XR_008625168;XR_008625169 XP_003824717;XP_008976562;XP_034796744;XP_054967445;XP_054967463;XP_054967471;XP_057158068 A0A2R8Z7R3;A0A2R9AKM1 tumor necrosis factor ligand superfamily member 4;tumor necrosis factor superfamily member 4 APPROVED protein-coding ENSPPAG00000003685;ENSPPAG00000032078 1;1 152251683;152391450 152262668;152415845 -;- 11676387 LY6G5C lymphocyte antigen 6 family member G5C ENCODES a protein that exhibits identical protein binding (inferred); ASSOCIATED WITH genetic disease (ortholog); JMP syndrome (ortholog); megacolon (ortholog); FOUND IN external side of plasma membrane (ortholog) 6 6 6 42115061 42125868 - 32227629 32233058 - 31337846 31343226 - 30032202 100971900 A0A2R9CSZ1 MODEL JARIFH010000007;XM_003831574;XR_004671931;XR_609394 XP_003831622 A0A2R9CSZ1 lymphocyte antigen 6 complex locus protein G5c;lymphocyte antigen 6 complex, locus G5C APPROVED protein-coding ENSPPAG00000043902 6 32227629 32231409 - 11676399 SLC39A5 solute carrier family 39 member 5 ENCODES a protein that exhibits metal ion transmembrane transporter activity (inferred); zinc ion transmembrane transporter activity (inferred); INVOLVED IN cellular response to zinc ion starvation (ortholog); positive regulation of mRNA splicing, via spliceosome (ortholog); ASSOCIATED WITH genetic disease (ortholog); Myopia 24, Autosomal Dominant (ortholog); FOUND IN basolateral plasma membrane (inferred); membrane (inferred) 12 12 12 38090801 38098797 - 32929033 32936826 - 32677330 32685316 - 22301074;30032202 100972993 A0A2R9CDT9 MODEL JARIFH010000013;XM_003824919;XM_034935663;XM_034935664;XM_034935665;XM_057299425 XP_003824967;XP_057155408 A0A2R9CDT9 solute carrier family 39 (metal ion transporter), member 5;zinc transporter ZIP5 protein-coding ENSPPAG00000042690 12 32929033 32936158 - 11676420 PDE8B phosphodiesterase 8B ENCODES a protein that exhibits 3',5'-cyclic-AMP phosphodiesterase activity (inferred); 3',5'-cyclic-nucleotide phosphodiesterase activity (inferred); hydrolase activity (inferred); INVOLVED IN behavioral fear response (ortholog); negative regulation of insulin secretion (ortholog); negative regulation of insulin secretion involved in cellular response to glucose stimulus (ortholog); PARTICIPATES IN protein kinase A (PKA) signaling pathway; ASSOCIATED WITH basal ganglia disease (ortholog); congenital adrenal hyperplasia (ortholog); Dysarthria (ortholog) 5 5 5 36024360 36271607 - 38401194 38617737 - 37874089 38121322 - 22301074;30032202 100973493 A0A2R9BFR9;A0A2R9BFT2;A0A2R9BFT7;A0A2R9BFV2;A0A2R9BGT2;A0A2R9BGU1;A0A2R9BJL1;A0A2R9BPC9 MODEL JARIFH010000006;XM_008965078;XM_014344880;XM_014344882;XM_024928744;XM_034959916;XM_034959918;XM_034959919;XM_034959920;XM_034959921;XM_034959922;XM_057302282 XP_008963326;XP_014200366;XP_014200368;XP_024784512;XP_034815807;XP_034815809;XP_034815810;XP_034815811;XP_034815812;XP_057158265 A0A2R9BGT2 high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B protein-coding ENSPPAG00000037153 5 38402790 38617743 - 11676452 MPPE1 metallophosphoesterase 1 ENCODES a protein that exhibits hydrolase activity (inferred); phosphoric diester hydrolase activity (inferred); INVOLVED IN GPI anchor biosynthetic process (ortholog); ASSOCIATED WITH chromosome 18p deletion syndrome (ortholog); dystonia (ortholog); genetic disease (ortholog); FOUND IN endoplasmic reticulum-Golgi intermediate compartment (inferred); endoplasmic reticulum-Golgi intermediate compartment membrane (inferred); Golgi apparatus (inferred) 18 18 18 11808230 11832880 + 4662348 4686832 + 2397423 2423209 + 22301074;30032202 100975503 A0A2R8ZL51;A0A2R8ZL54;A0A2R8ZL55;A0A2R8ZL59 MODEL JARIFH010000019;XM_003811698;XM_008964096;XM_008964098;XM_034943394;XM_034943395;XM_055102558 XP_003811746;XP_008962344;XP_008962346;XP_034799285;XP_034799286;XP_054958533 A0A2R8ZL54 protein-coding ENSPPAG00000023342 18 4662348 4686262 + 11676477 HDDC3 HD domain containing 3 ENCODES a protein that exhibits metal ion binding (inferred); ASSOCIATED WITH Bloom syndrome (ortholog); D-2-hydroxyglutaric aciduria 2 (ortholog); genetic disease (ortholog) 15 15 15 84183061 84187259 - 88821307 88822950 - 69623932 69628130 - 30032202 100976950 A0A2R9BV56;A0A2R9C4X1 MODEL JARIFH010000016;XM_003807713;XM_003807714 XP_003807761 A0A2R9BV56 guanosine-3',5'-bis(diphosphate) 3'-pyrophosphohydrolase MESH1 protein-coding ENSPPAG00000039645 11676488 TRIM59 tripartite motif containing 59 ENCODES a protein that exhibits ubiquitin protein ligase activity (ortholog); INVOLVED IN innate immune response (ortholog); negative regulation of canonical NF-kappaB signal transduction (ortholog); negative regulation of viral entry into host cell (ortholog); ASSOCIATED WITH Experimental Liver Cirrhosis (ortholog); genetic disease (ortholog); FOUND IN endoplasmic reticulum (ortholog) 3 3 3 158376441 158390874 - 165507354 165520041 - 157458982 157471521 - 22301074;30032202 100976993 MODEL JARIFH010000004;XM_034957675 XP_034813566 tripartite motif-containing protein 59 protein-coding 11676495 ALLC allantoicase ENCODES a protein that exhibits allantoicase activity (inferred); INVOLVED IN allantoin catabolic process (inferred); ASSOCIATED WITH genetic disease (ortholog) 2A 2A 2A 122805762 122852172 - 3591862 3637371 + 3672945 3719340 + 22301074;30032202 100977618 A0A2R9CJV7 MODEL JARIFH010000002;XM_003807422;XM_034952535;XM_055108301 XP_003807470;XP_034808426;XP_054964276 A0A2R9CJV7 probable allantoicase;probable inactive allantoicase protein-coding ENSPPAG00000043709 2A 3591862 3637371 + 11676511 LOC100979002 ATP synthase F(0) complex subunit C2, mitochondrial-like 3 3 3 128261939 128262367 + 134709154 134709582 + 127386013 127386441 + 100979002 MODEL JARIFH010000004 ATP synthase F(0) complex subunit C2, mitochondrial pseudogene APPROVED pseudo 11676512 LOC100979159 olfactory receptor 6N1-like ENCODES a protein that exhibits G protein-coupled receptor activity (inferred); olfactory receptor activity (inferred); INVOLVED IN detection of chemical stimulus involved in sensory perception of smell (inferred); G protein-coupled receptor signaling pathway (inferred); sensory perception of smell (inferred); FOUND IN membrane (inferred); plasma membrane (inferred) 1 1 1 90781556 90784423 + 137959016 137959949 - 134167798 134168706 - 22301074 100979159 A0A2R8ZW15 MODEL JARIFH010000001;XM_034951831;XM_055112863 XP_054968838 A0A2R8ZW15 protein-coding ENSPPAG00000027802 11676516 DEFB1 defensin beta 1 ENCODES a protein that exhibits double-stranded DNA binding (ortholog); INVOLVED IN defense response to bacterium (ortholog); innate immune response (ortholog); killing of cells of another organism (ortholog); ASSOCIATED WITH Actinobacillus Infections (ortholog); asthma (ortholog); chronic obstructive pulmonary disease (ortholog); FOUND IN extracellular region (inferred); extracellular space (inferred); membrane (inferred) 8 8 6874235 6881631 - 403268 410712 + 22301074;30032202 100979165 A0A2R9C6J7 MODEL JARIFH010000027;XM_003805347 XP_003805395 A0A2R9C6J7 beta-defensin 1 protein-coding ENSPPAG00000041540 8 6874235 6881631 - 11676522 ZNF524 zinc finger protein 524 ENCODES a protein that exhibits sequence-specific double-stranded DNA binding (ortholog); ASSOCIATED WITH genetic disease (ortholog) 19 19 19 63471313 63474739 + 61332651 61335644 + 52646927 52650353 + 30032202 100979744 MODEL JARIFH010000020;XM_034946050;XM_034946051;XM_034946053 XP_034801941;XP_034801942;XP_034801944 protein-coding 11676528 LOC100979938 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial-like 17 17 17 80858438 80859313 + 58791693 58792315 + 53950603 53951852 + 100979938 MODEL JARIFH010000018 pseudo ENSPPAG00000006342 11676529 AFP alpha fetoprotein ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN animal organ regeneration (ortholog); cellular response to retinoic acid (ortholog); liver development (ortholog); PARTICIPATES IN forkhead class A signaling pathway; ASSOCIATED WITH Alpha-Fetoprotein Deficiency (ortholog); Alpha-Fetoprotein, Hereditary Persistence of (ortholog); Breast Neoplasms (ortholog); FOUND IN extracellular space (ortholog) 4 4 4 56796622 56815436 - 56571519 56590391 - 50739197 50758459 - 22301074;30032202 100980292 A0A2R9A5B3;A0A2R9A5B4 MODEL JARIFH010000005;XM_024928488;XM_034958067 XP_034813958 A0A2R9A5B3 alpha-fetoprotein protein-coding ENSPPAG00000029427 4 56571519 56590391 - 11676548 CSTB cystatin B ENCODES a protein that exhibits protease binding (ortholog); INVOLVED IN adult locomotory behavior (ortholog); amyloid fibril formation (ortholog); negative regulation of proteolysis (ortholog); ASSOCIATED WITH autistic disorder (ortholog); benign epilepsy with centrotemporal spikes (ortholog); cataract 9 multiple types (ortholog); FOUND IN cytosol (ortholog); extracellular space (ortholog); nucleolus (ortholog) 21 21 21 34630903 34633448 - 43329002 43343874 - 30030359 30032899 - 22301074;30032202 100980572 P60575 MODEL AB083087;JARIFH010000022;XM_034947958 BAC20306;P60575;XP_034803849 P60575 Cystatin-B;STFB;Stefin-B protein-coding 11676555 BNIP1 BCL2 interacting protein 1 ENCODES a protein that exhibits calcium-induced calcium release activity (inferred); SNAP receptor activity (inferred); INVOLVED IN apoptotic process (ortholog); response to activity (ortholog); response to oxygen-glucose deprivation (ortholog); PARTICIPATES IN intrinsic apoptotic pathway; ASSOCIATED WITH atrial heart septal defect 7 (ortholog); Atrial Septal Defect with Atrioventricular Conduction Defects (ortholog); Down syndrome (ortholog); FOUND IN COPI-coated vesicle (ortholog); mitochondrial outer membrane (ortholog); SNARE complex (ortholog) 5 5 5 166420434 166440476 + 175406525 175426087 + 168497889 168517790 + 22301074;30032202 100981958 A0A2R9A869;A0A2R9AD20;A0A2R9AD37;A0A2R9AD89 MODEL JARIFH010000006;XM_003814001;XM_034960974 XP_003814049;XP_034816865 A0A2R9AD37 vesicle transport protein SEC20 protein-coding ENSPPAG00000029895 5 175406525 175426087 + 11676565 TMEM179B transmembrane protein 179B ASSOCIATED WITH genetic disease (ortholog); intellectual disability (ortholog); leukocyte adhesion deficiency 3 (ortholog); FOUND IN membrane (inferred); nuclear speck (inferred); nucleolus (inferred) 11 11 11 65055181 65058043 + 61498409 61499816 + 58142806 58145668 + 100982378 A0A2R9BQR0 MODEL JARIFH010000012;XM_034932811;XM_034932812;XM_034932813 XP_034788702 A0A2R9BQR0 protein-coding ENSPPAG00000038907 11 61498409 61499816 + 11676572 APLP1 amyloid beta precursor like protein 1 ENCODES a protein that exhibits alpha-2A adrenergic receptor binding (inferred); alpha-2B adrenergic receptor binding (inferred); alpha-2C adrenergic receptor binding (inferred); INVOLVED IN cytoplasmic polyadenylation (ortholog); extracellular matrix organization (ortholog); forebrain development (ortholog); ASSOCIATED WITH Brugada syndrome 5 (ortholog); genetic disease (ortholog); hereditary spastic paraplegia 75 (ortholog); FOUND IN endomembrane system (inferred); Golgi apparatus (inferred); membrane (inferred) 19 19 19 43852723 43864012 + 41534776 41545908 + 32786362 32797728 + 22301074;30032202 100982743 A0A2R9AFI4;A0A2R9AFK0;A0A2R9AKE3;A0A2R9AMA9 MODEL JARIFH010000020;XM_003816097;XM_008969146;XM_034944184 XP_003816145;XP_008967394 A0A2R9AFK0 amyloid-like protein 1 protein-coding ENSPPAG00000031136 19 41534569 41545906 + 11676597 HK2 hexokinase 2 ENCODES a protein that exhibits ATP binding (ortholog); fructokinase activity (ortholog); glucose binding (ortholog); INVOLVED IN apoptotic mitochondrial changes (ortholog); carbohydrate phosphorylation (ortholog); cellular response to leukemia inhibitory factor (ortholog); PARTICIPATES IN altered galactose metabolic pathway; congenital sucrase-isomaltase deficiency pathway; Fanconi syndrome pathway; ASSOCIATED WITH Animal Disease Models (ortholog); Chronic Intermittent Hypoxia (ortholog); genetic disease (ortholog); FOUND IN sarcoplasmic reticulum (ortholog) 2A 2A 2A 51501345 51563782 - 76400240 76460881 + 74897914 74957234 + 22301074;30032202 100983149 A0A2R9BNP9;A0A2R9BUJ2 MODEL JARIFH010000002;XM_003810321;XM_008962671 XP_003810369;XP_008960919 A0A2R9BNP9;A0A2R9BUJ2 hexokinase-2 protein-coding ENSPPAG00000038583;ENSPPAG00000038929 2A 76400240 76460874 + 11676622 NMRAL1 NmrA like redox sensor 1 ENCODES a protein that exhibits identical protein binding (ortholog); ASSOCIATED WITH epilepsy (ortholog); genetic disease (ortholog); idiopathic generalized epilepsy (ortholog); FOUND IN nucleoplasm (ortholog) 16 16 16 8781306 8794166 - 4555519 4560209 - 3386842 3399729 - 100983526 A0A2R9A271 MODEL JARIFH010000017;XM_034939712;XM_034939713;XM_034939714;XM_034939715;XM_034939716;XM_034939717 XP_034795603;XP_034795604;XP_034795605;XP_034795606;XP_034795607;XP_034795608 LOC106633883 NmrA-like family domain containing 1;nmrA-like family domain-containing protein 1;uncharacterized LOC106633883 PROVISIONAL protein-coding ENSPPAG00000028682 11676629 VCL vinculin ENCODES a protein that exhibits actin binding (ortholog); molecular adaptor activity (ortholog); small GTPase binding (ortholog); INVOLVED IN axon extension (ortholog); cell adhesion (ortholog); lamellipodium assembly (ortholog); PARTICIPATES IN E-cadherin signaling pathway; vascular endothelial growth factor signaling pathway; ASSOCIATED WITH Acute Coronary Syndrome (ortholog); autism spectrum disorder (ortholog); cardiac arrest (ortholog); FOUND IN actin filament (ortholog); focal adhesion (ortholog); intercalated disc (ortholog) 10 10 10 86154475 86275165 + 73191384 73311301 + 70521259 70641917 + 22301074 100985400 A0A2R9CAL0;A0A2R9CAL4 MODEL JARIFH010000011;XM_003812995;XM_003812996 XP_003813043;XP_003813044 A0A2R9CAL0 protein-coding ENSPPAG00000042103 10 73191375 73311296 + 11676658 PDCD2L programmed cell death 2 like ASSOCIATED WITH genetic disease (ortholog); hereditary spastic paraplegia 75 (ortholog); FOUND IN cytoplasm (inferred) 19 19 19 42406871 42430385 + 40085562 40107785 + 31357343 31380858 + 22301074 100985553 A0A2R9BWF7 MODEL JARIFH010000020;XM_003816188 XP_003816236 A0A2R9BWF7 programmed cell death protein 2-like protein-coding ENSPPAG00000039869 19 40085562 40107785 + 11676669 LOC100987402 zinc finger protein 426 ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN regulation of DNA-templated transcription (inferred); ASSOCIATED WITH autistic disorder (ortholog); genetic disease (ortholog) 19 19 19 13422314 13437564 - 9746568 9758538 - 9059391 9071193 - 30032202 100987402 A0A2R8ZT37;A0A2R8ZT42;A0A2R8ZT48;A0A2R8ZUA2 MODEL JARIFH010000020;XM_008961899;XM_008961901;XM_055103415 XP_008960147;XP_054959390 A0A2R8ZUA2 ZNF426 APPROVED protein-coding ENSPPAG00000027305 19 9746568 9758545 - 11676688 RARG retinoic acid receptor gamma ENCODES a protein that exhibits nuclear receptor activity (ortholog); RNA polymerase II transcription regulatory region sequence-specific DNA binding (ortholog); INVOLVED IN anterior/posterior pattern specification (ortholog); apoptotic process (ortholog); bone development (ortholog); PARTICIPATES IN retinoic acid signaling pathway; ASSOCIATED WITH Cardiotoxicity (ortholog); cleft palate (ortholog); genetic disease (ortholog); FOUND IN chromatin (inferred); nucleoplasm (inferred); nucleus (inferred) 12 12 12 40950506 40972122 + 36303328 36325111 + 35521276 35542814 + 22301074;30032202 100988215 A0A2R9A2W6;A0A2R9A426;A0A2R9A7H4;A0A2R9A872;A0A2R9A880 MODEL JARIFH010000013;XM_003831024;XM_055095625;XM_055095626;XM_055095627;XM_055095628;XM_055095629 XP_003831072;XP_054951600;XP_054951601;XP_054951602;XP_054951603;XP_054951604 A0A2R9A7H4 protein-coding ENSPPAG00000028990 12 36303359 36325111 + 11676726 DLGAP5 DLG associated protein 5 INVOLVED IN signaling (inferred); ASSOCIATED WITH COVID-19 (ortholog); genetic disease (ortholog); hepatocellular carcinoma (ortholog); FOUND IN cytosol (inferred); mitotic spindle (inferred); nucleus (inferred) 14 14 14 55486160 55529716 - 54009127 54052507 - 35734973 35778569 - 22301074;30032202 100988224 A0A2R8ZTX4;A0A2R8ZTX8;A0A2R8ZXB4;A0A2R8ZZL9 MODEL JARIFH010000015;XM_003831685;XM_003831686;XM_008957044;XM_008957045;XM_055097610 XP_003831733;XP_003831734;XP_008955292;XP_054953585 A0A2R8ZTX8 disks large-associated protein 5 protein-coding ENSPPAG00000027413 14 54009127 54052437 - 11676761 SMIM8 small integral membrane protein 8 ASSOCIATED WITH genetic disease (ortholog); FOUND IN membrane (inferred) 6 6 6 105298455 105316806 + 88475495 88493123 + 85199698 85218051 + 100989506 A0A2R8ZBC0;A0A2R8ZDV9 MODEL JARIFH010000007;XM_003822852;XM_008976462;XM_034962499 XP_008974710;XP_034818390 A0A2R8ZDV9 UPF0708 protein C6orf162 homolog protein-coding ENSPPAG00000003425 11676772 TTC39A tetratricopeptide repeat domain 39A ASSOCIATED WITH genetic disease (ortholog); Liver Neoplasms (ortholog); Wolff-Parkinson-White syndrome (ortholog); FOUND IN centrosome (inferred) 1 1 1 174662551 174720458 + 52030470 52087870 - 50531607 50589515 - 22301074 100990597 A0A2R9AH31;A0A2R9AH38;A0A2R9AI07;A0A2R9ALT7 MODEL JARIFH010000001;XM_003829561;XM_008954938;XM_008954939;XM_008954940;XM_008954941;XM_008954943;XM_034964995;XM_034965000;XM_034965012;XM_034965014;XM_034965018;XM_034965026;XM_034965033;XM_034965036;XM_034965040;XM_055093020;XM_055093036;XM_055093043 XP_003829609;XP_008953186;XP_008953187;XP_008953188;XP_008953189;XP_008953191;XP_034820886;XP_034820891;XP_034820903;XP_034820917;XP_034820924;XP_034820931;XP_054948995;XP_054949011;XP_054949018 A0A2R9AH31 tetratricopeptide repeat protein 39A protein-coding ENSPPAG00000031439 1 52030470 52074328 - 11676809 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ENCODES a protein that exhibits [methionine synthase] reductase activity (inferred); FAD binding (inferred); flavin adenine dinucleotide binding (inferred); INVOLVED IN cobalamin metabolic process (ortholog); DNA methylation (ortholog); homocysteine metabolic process (ortholog); PARTICIPATES IN altered folate cycle metabolic pathway; folate cycle metabolic pathway; folate mediated one-carbon metabolic pathway; ASSOCIATED WITH abdominal aortic aneurysm (ortholog); acute lymphoblastic leukemia (ortholog); acute myeloid leukemia (ortholog); FOUND IN cytosol (ortholog) 5 5 5 6260305 6310480 + 8017373 8049322 + 8195868 8228071 + 22301074;30032202 100990677 A0A2R9CLM9;A0A2R9CNP6 MODEL JARIFH010000006;XM_003809224;XM_008961431;XM_055112163;XM_055112164;XM_057302257;XR_003028044;XR_004671399 XP_003809272;XP_008959679;XP_054968138;XP_054968139;XP_057158240 A0A2R9CNP6 LOC117980207 methionine synthase reductase;uncharacterized LOC117980207 PROVISIONAL protein-coding ENSPPAG00000043987 5 8017403 8049322 + 11676833 C19H19orf53 chromosome 19 C19orf53 homolog 19 19 19 17704276 17708325 + 14068708 14073406 + 13336420 13340471 + 100991153 A0A2R9BTN2;A0A2R9BX34 MODEL JARIFH010000020;XM_003814846 XP_003814894 A0A2R9BTN2 chromosome 19 open reading frame, human C19orf53;leydig cell tumor 10 kDa protein homolog APPROVED protein-coding ENSPPAG00000039375 19 14068721 14073406 + 11676840 LOC100991445 olfactory receptor 4A5-like 11 11 57356570 57364684 + 50425201 50451984 + 100991445 MODEL JARIFH010000012 pseudo 11676841 LOC100993963 RNA-binding motif protein, X chromosome-like 11 11 11 84788729 84789889 + 81483705 81484865 + 77871051 77872304 + 100993963 MODEL JARIFH010000012 pseudo 11676843 PRAP1 proline rich acidic protein 1 ENCODES a protein that exhibits triglyceride binding (ortholog); INVOLVED IN cellular response to X-ray (ortholog); positive regulation of intestinal lipid absorption (ortholog); positive regulation of phospholipid transport (ortholog); ASSOCIATED WITH distal 10q deletion syndrome (ortholog); genetic disease (ortholog); FOUND IN endoplasmic reticulum (ortholog); extracellular region (ortholog) 10 10 145460479 145486514 + 134248728 134268442 + 103782672 A0A2R9CJX9 MODEL JARIFH010000011;XM_008969303;XM_008969304;XM_008969305;XM_024930248;XM_055093523 XP_008967552;XP_054949498 A0A2R9CJX9 proline-rich acidic protein 1 protein-coding ENSPPAG00000041958 10 134248728 134268442 + 11676865 FZD1 frizzled class receptor 1 ENCODES a protein that exhibits frizzled binding (ortholog); identical protein binding (ortholog); PDZ domain binding (ortholog); INVOLVED IN astrocyte-dopaminergic neuron signaling (ortholog); autocrine signaling (ortholog); canonical Wnt signaling pathway (ortholog); PARTICIPATES IN Wnt signaling pathway; Wnt signaling, canonical pathway; ASSOCIATED WITH breast carcinoma (ortholog); genetic disease (ortholog); pleomorphic xanthoastrocytoma (ortholog); FOUND IN cell surface (ortholog); plasma membrane (ortholog) 7 7 7 157420947 157429695 + 96805227 96876188 + 83269906 83277608 + 30032202 103784670 MODEL JARIFH010000008;XM_034964416 XP_034820307 frizzled family receptor 1;frizzled-1 protein-coding 11676871 LOC103785280 zinc finger protein 878 19 19 19 15996683 16039825 + 12409721 12433780 + 11656545 11663838 + 30032202 103785280 MODEL JARIFH010000020;XM_034946309;XM_055103641;XM_055103642 XP_054959616;XP_054959617 ZNF788P KRAB domain-containing protein ZNF788;zinc finger family member 788, pseudogene;zinc finger protein 709;zinc finger protein 788-like APPROVED protein-coding 11676910 LOC106633988 uncharacterized LOC106633988 17 17 17 79227069 79233565 - 57176084 57181828 - 52307766 52326657 - 106633988 MODEL JARIFH010000018;XR_001337340;XR_004667271;XR_004667272 ncrna 11676915 LILRB5 leukocyte immunoglobulin like receptor B5 INVOLVED IN immune system process (inferred); ASSOCIATED WITH COVID-19 (ortholog); genetic disease (ortholog); hepatocellular carcinoma (ortholog); FOUND IN membrane (inferred) 19 19 19 62185536 62191861 - 60031057 60092581 - 51189520 51211511 - 106634140 A0A2R8ZQB6;A0A2R9CMR5;A0A2R9CSJ6 MODEL JARIFH010000020;XM_034946461;XM_055103227 XP_054959202 A0A2R8ZQB6 LOC106634140;LOC106634142 leukocyte immunoglobulin-like receptor subfamily A member 2;leukocyte immunoglobulin-like receptor subfamily B member 1;leukocyte immunoglobulin-like receptor subfamily B member 3;leukocyte immunoglobulin-like receptor subfamily B member 5 APPROVED protein-coding ENSPPAG00000025521;ENSPPAG00000043744 11676941 ND4 NADH dehydrogenase subunit 4 ENCODES a protein that exhibits NADH dehydrogenase (ubiquinone) activity (ortholog); INVOLVED IN mitochondrial electron transport, NADH to ubiquinone (ortholog); mitochondrial respiratory chain complex I assembly (ortholog); FOUND IN mitochondrial inner membrane (ortholog) MT MT MT 10179 11556 + 10179 11556 + 10179 11556 + 807875 E0XI78;E0XI91;E0XIA4;E0XIB7;E0XII2;E0YDR2;Q9T9W6 PROVISIONAL D38116 BAA85300;NP_008208 Q9T9W6 protein-coding ENSPPAG00000000028 MT 10179 11556 + 11676942 LOC100969385 ralA-binding protein 1-like 2A 2A 27802458 27805071 - 101405642 101407681 + 100969385 MODEL JARIFH010000002 ralA-binding protein 1 pseudogene APPROVED pseudo 11676943 GFER growth factor, augmenter of liver regeneration ENCODES a protein that exhibits flavin-dependent sulfhydryl oxidase activity (ortholog); INVOLVED IN cellular response to actinomycin D (ortholog); cellular response to lipopolysaccharide (ortholog); cellular response to toxic substance (ortholog); PARTICIPATES IN intermembrane space assembly pathway of mitochondrial protein import; mitochondrial iron-sulfur cluster export pathway; ASSOCIATED WITH acute kidney failure (ortholog); Acute Liver Failure (ortholog); Acute-On-Chronic Liver Failure (ortholog); FOUND IN extracellular space (ortholog) 16 16 16 6141337 6144864 - 2073064 2076592 + 716640 720196 - 30032202 100969913 A0A2R8ZHZ9;A0A2R8ZP76 MODEL JARIFH010000017;XM_003807689 XP_003807737 A0A2R8ZHZ9 FAD-linked sulfhydryl oxidase ALR protein-coding ENSPPAG00000019230 16 2073064 2076592 + 11676949 PAM peptidylglycine alpha-amidating monooxygenase ENCODES a protein that exhibits calcium ion binding (ortholog); chromatin binding (ortholog); copper ion binding (ortholog); INVOLVED IN fatty acid primary amide biosynthetic process (ortholog); heart development (ortholog); lactation (ortholog); PARTICIPATES IN melanocortin system pathway; ASSOCIATED WITH anxiety disorder (ortholog); Brain Hypoxia (ortholog); Experimental Arthritis (ortholog); FOUND IN cell surface (ortholog); chromatin (ortholog); condensed chromosome (ortholog) 5 5 5 96297289 96467871 + 103803846 104085774 + 98104058 98385157 + 22301074;30032202 100970635 A0A2R9A3K2;A0A2R9A3P7;A0A2R9A4X2;A0A2R9A8F6;A0A2R9A917;A0A2R9A925 MODEL JARIFH010000006;XM_008953692;XM_008953697;XM_014344964;XM_034960297;XM_034960298;XM_034960299;XM_034960300;XM_034960301;XM_034960302;XM_034960303;XM_034960304;XM_034960305;XM_034960306;XM_034960307 XP_008951940;XP_008951945;XP_034816189;XP_034816190;XP_034816191;XP_034816192;XP_034816193;XP_034816194;XP_034816195;XP_034816196;XP_034816197;XP_034816198 A0A2R9A3K2 peptidyl-glycine alpha-amidating monooxygenase protein-coding ENSPPAG00000029053 5 103913456 104085774 + 11676999 UTP18 UTP18 small subunit processome component INVOLVED IN ribosomal small subunit biogenesis (inferred); rRNA processing (inferred); ASSOCIATED WITH genetic disease (ortholog); FOUND IN nuclear membrane (inferred); nucleolus (inferred); nucleoplasm (inferred) 17 17 17 72255606 72293241 + 50220757 50258040 + 45350857 45388262 + 22301074;30032202 100971697 A0A2R9AVX5;A0A2R9AZQ3;A0A2R9B1P6 MODEL JARIFH010000018;XM_034942500 XP_034798391 A0A2R9AZQ3 U3 small nucleolar RNA-associated protein 18 homolog;UTP18, small subunit processome component APPROVED protein-coding ENSPPAG00000033852 17 50220865 50254218 + 11677017 HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 ENCODES a protein that exhibits acetoacetyl-CoA reductase activity (ortholog); amyloid-beta binding (ortholog); estradiol 17-beta-dehydrogenase [NAD(P)] activity (ortholog); INVOLVED IN Leydig cell differentiation (ortholog); male gonad development (ortholog); PARTICIPATES IN 3-hydroxy-3-methylglutaryl-CoA lyase deficiency pathway; 3-hydroxyacyl-CoA dehydrogenase deficiency pathway; 3-hydroxyisobutyric aciduria pathway; ASSOCIATED WITH Alzheimer's disease (ortholog); Atkin Syndrome (ortholog); autistic disorder (ortholog); FOUND IN endoplasmic reticulum (ortholog); mitochondrial ribonuclease P complex (ortholog); tRNA methyltransferase complex (ortholog) X X X 54834038 54837229 - 53754164 53757643 - 45645849 45649039 - 30032202 100971848 A0A2R9ANQ0;A0A2R9ANR6 MODEL JARIFH010000024;XM_003805899 XP_003805947 A0A2R9ANQ0 3-hydroxyacyl-CoA dehydrogenase type-2 protein-coding ENSPPAG00000032534 X 53754164 53757643 - 11677027 TEPSIN TEPSIN adaptor related protein complex 4 accessory protein ENCODES a protein that exhibits protein-containing complex binding (ortholog); ASSOCIATED WITH genetic disease (ortholog); FOUND IN AP-4 adaptor complex (ortholog); coated vesicle membrane (ortholog); cytoplasm (ortholog) 17 17 17 102707563 102718979 - 81382488 81393132 - 75653942 75665335 - 30032202 100972817 A0A2R9BPD5;A0A2R9BPD6;A0A2R9BSW3 MODEL JARIFH010000018;XM_014342266;XM_014342267;XM_034943089;XM_034943090;XM_034943091;XM_034943093;XM_034943094;XM_034943095;XM_034943096;XM_034943097;XM_055101966;XM_055101967;XM_055101969 XP_014197752;XP_034798981;XP_034798986;XP_034798988;XP_054957941;XP_054957942;XP_054957944 A0A2R9BSW3 AP-4 complex accessory subunit tepsin APPROVED protein-coding ENSPPAG00000038689 17 81382483 81393038 - 11677056 LOC100974712 prothymosin alpha-like 3 3 3 115019883 115021476 + 121074559 121075000 + 114161487 114162281 + 30032202 100974712 A0A2R9A054 MODEL JARIFH010000004;XM_003825233 XP_003825281 A0A2R9A054 protein-coding ENSPPAG00000028333 11677060 BCOR BCL6 corepressor ENCODES a protein that exhibits ubiquitin-protein transferase activity (ortholog); INVOLVED IN blastocyst hatching (ortholog); negative regulation of transcription by RNA polymerase II (ortholog); ASSOCIATED WITH acute myeloid leukemia (ortholog); adenoid cystic carcinoma (ortholog); autistic disorder (ortholog); FOUND IN BCOR complex (inferred); nucleoplasm (inferred); nucleus (inferred) X X X 41699844 41826220 - 40203565 40328788 - 32497931 32624307 - 22301074;30032202 100975198 A0A2R8ZUV0;A0A2R8ZUW3;A0A2R8ZY88;A0A2R9A0H1 MODEL JARIFH010000024;XM_003815374;XM_003815375;XM_003815376;XM_003815377;XM_008968340;XM_008968341;XM_008968344;XM_008968345;XM_034950610;XM_034950611;XM_055106159;XM_057301049;XM_057301050 XP_003815423;XP_003815424;XP_008966588;XP_008966589;XP_008966593;XP_034806501;XP_034806502;XP_054962134;XP_057157032;XP_057157033 A0A2R8ZUV0 BCL-6 corepressor protein-coding ENSPPAG00000027608 X 40202235 40249986 - 11677099 CCT3 chaperonin containing TCP1 subunit 3 ENCODES a protein that exhibits ATP binding (inferred); ATP hydrolysis activity (inferred); ATP-dependent protein folding chaperone (inferred); INVOLVED IN binding of sperm to zona pellucida (ortholog); positive regulation of protein localization to Cajal body (ortholog); positive regulation of telomerase RNA localization to Cajal body (ortholog); ASSOCIATED WITH Charcot-Marie-Tooth disease type 2 (ortholog); Chemical and Drug Induced Liver Injury (ortholog); gastrointestinal stromal tumor (ortholog); FOUND IN chaperonin-containing T-complex (ortholog) 1 1 1 93240518 93268250 + 135482012 135508983 - 131652058 131679802 - 22301074;30032202 100975912 A0A2R9CAG0;A0A2R9CAI3;A0A2R9CAM9;A0A2R9CAN9 MODEL JARIFH010000001;XM_003821055;XM_034937552;XM_034937554 XP_003821103 A0A2R9CAM9 T-complex protein 1 subunit gamma protein-coding ENSPPAG00000042161 1 135481427 135508983 - 11677117 MPEG1 macrophage expressed 1 ENCODES a protein that exhibits pore-forming activity (ortholog); INVOLVED IN antibacterial innate immune response (ortholog); antigen processing and presentation of exogenous peptide antigen (ortholog); antigen processing and presentation of exogenous peptide antigen via MHC class I (ortholog); ASSOCIATED WITH Experimental Liver Neoplasms (ortholog); genetic disease (ortholog); Immunodeficiency 77 (ortholog); FOUND IN endolysosome (ortholog); phagocytic vesicle (ortholog); phagocytic vesicle membrane (ortholog) 11 11 11 61373648 61377986 - 57877944 57882409 - 54425904 54442631 - 30032202 100977075 A0A2R8ZKT5 MODEL JARIFH010000012;XM_008951798 XP_008950046 A0A2R8ZKT5 LOC100977075 APPROVED protein-coding ENSPPAG00000022989 11 57880109 57882259 - 11677122 LOC100977427 60S ribosomal protein L26 ENCODES a protein that exhibits mRNA 5'-UTR binding (inferred); RNA binding (inferred); structural constituent of ribosome (inferred); INVOLVED IN cellular response to gamma radiation (inferred); cellular response to ionizing radiation (inferred); cellular response to UV (inferred); FOUND IN cytoplasm (inferred); cytosolic large ribosomal subunit (inferred); cytosolic ribosome (inferred) 12 12 12 67114814 67115365 + 59243357 59243889 + 56616749 56617299 + 22301074;30032202 100977427 A0A2R8ZWI6;A0A2R9CF39 MODEL JARIFH010000013;XM_003828832 XP_003828880 A0A2R8ZWI6;A0A2R9CF39 protein-coding ENSPPAG00000027325;ENSPPAG00000042502 17 48009198 48015977 + 11677127 JCAD junctional cadherin 5 associated INVOLVED IN positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis (inferred); positive regulation of cell migration involved in sprouting angiogenesis (inferred); positive regulation of MAPK cascade (inferred); ASSOCIATED WITH coronary artery disease (ortholog); genetic disease (ortholog); FOUND IN adherens junction (inferred); cell junction (inferred); cell-cell junction (inferred) 10 10 10 42688961 42791531 - 30519256 30553925 - 30163932 30266266 - 30032202 100977597 A0A2R9A5I2 MODEL JARIFH010000011;XM_034930217;XM_034930218;XM_034930219;XM_055092573;XM_055092574;XM_055092575;XM_055092576;XM_055092577 XP_034786108;XP_034786110;XP_054948548;XP_054948549;XP_054948550;XP_054948551;XP_054948552 A0A2R9A5I2 KIAA1462 KIAA1462 ortholog;junctional protein associated with coronary artery disease APPROVED protein-coding ENSPPAG00000028488 10 30528772 30553865 - 11677134 CREBZF CREB/ATF bZIP transcription factor ENCODES a protein that exhibits DNA-binding transcription factor activity (inferred); identical protein binding (inferred); INVOLVED IN negative regulation of DNA-templated transcription (inferred); negative regulation of gene expression, epigenetic (inferred); positive regulation of transcription by RNA polymerase II (inferred); ASSOCIATED WITH exudative vitreoretinopathy 1 (ortholog); genetic disease (ortholog); intellectual disability (ortholog); FOUND IN RNA polymerase II transcription regulator complex (ortholog) 11 11 11 87632824 87639194 - 84322496 84329636 - 80713916 80721085 - 22301074;30032202 100978022 A0A2R9BVU1 MODEL JARIFH010000012;XM_008958428;XM_008958429;XM_008958430;XM_008958431;XM_008958433;XM_008958435;XM_008958436;XM_008958437;XM_008958438;XM_008958439;XM_034933464;XM_034933465;XM_034933466;XM_034933467;XM_034933468;XM_034933469;XM_034933470;XM_034933471;XM_034933472;XM_034933473;XM_034933474;XM_034933475;XM_034933476;XM_034933477;XM_034933478;XM_055093791;XM_055093792;XM_057299343;XM_057299344;XM_057299345 XP_008956676;XP_008956677;XP_008956678;XP_008956679;XP_008956683;XP_008956684;XP_008956685;XP_008956686;XP_034789355;XP_034789356;XP_034789359;XP_034789360;XP_034789361;XP_034789362;XP_034789363;XP_034789364;XP_034789365;XP_054949766;XP_054949767;XP_057155326;XP_057155327;XP_057155328 A0A2R9BVU1 protein-coding ENSPPAG00000039767 11 84322496 84329636 - 11677167 PTTG1 PTTG1 regulator of sister chromatid separation, securin ENCODES a protein that exhibits cysteine-type endopeptidase inhibitor activity (ortholog); heat shock protein binding (ortholog); molecular function activator activity (ortholog); INVOLVED IN chromosome segregation (ortholog); homologous chromosome segregation (ortholog); mitotic sister chromatid cohesion (ortholog); ASSOCIATED WITH genetic disease (ortholog); hepatocellular carcinoma (ortholog); Pituitary Neoplasms (ortholog); FOUND IN cytoplasm (inferred); cytosol (inferred); nucleus (inferred) 5 5 5 153746802 153753738 + 162506954 162513869 + 155812745 155819684 + 22301074;30032202 100978415 A0A2R9ABT9;A0A2R9AFP4;A1YG96 MODEL DQ977242;JARIFH010000006;XM_003808021;XM_003808022;XM_034960912;XM_034960913 ABM54321;XP_003808069;XP_003808070;XP_034816803;XP_034816804 A0A2R9AFP4 pituitary tumor-transforming 1;securin APPROVED protein-coding ENSPPAG00000030326 5 162506832 162513869 + 11677180 LRRC10B leucine rich repeat containing 10B ASSOCIATED WITH genetic disease (ortholog); Hereditary Paraganglioma-Pheochromocytoma Syndromes (ortholog); intellectual disability (ortholog) 11 11 11 63720500 63722770 + 60170686 60172684 + 56808113 56810381 + 22301074 100978996 A0A2R9AU85 MODEL JARIFH010000012;XM_008953862 XP_008952110 A0A2R9AU85 leucine-rich repeat-containing protein 10B protein-coding ENSPPAG00000033664 11 60169003 60171543 + 11677185 FER1L5 fer-1 like family member 5 ENCODES a protein that exhibits metal ion binding (inferred); ASSOCIATED WITH genetic disease (ortholog); intellectual disability (ortholog); schizophrenia (ortholog); FOUND IN membrane (inferred); plasma membrane (inferred) 2A 2A 2A 31605604 31667909 - 97566703 97628325 + 102609108 102671106 - 22301074;30032202 100979169 A0A2R9A3Q3;A0A2R9A3U0;A0A2R9A500;A0A2R9A511 MODEL JARIFH010000002;XM_008974468;XM_055107645;XM_055107646;XM_055107647 XP_008972716;XP_054963620;XP_054963621;XP_054963622 A0A2R9A3Q3 fer-1-like 5;fer-1-like protein 5 protein-coding ENSPPAG00000029127 2A 97566703 97628314 + 11677242 VRTN vertebrae development associated ENCODES a protein that exhibits sequence-specific DNA binding (inferred); ASSOCIATED WITH genetic disease (ortholog); intellectual disability (ortholog) 14 14 14 74644310 74655923 + 73746100 73757053 + 54897123 54908748 + 22301074;30032202 100979294 A0A2R8ZG53 MODEL JARIFH010000015;XM_003824163 XP_003824211 A0A2R8ZG53 vertebrae development homolog (pig);vertnin protein-coding ENSPPAG00000016158 14 73753826 73755934 + 11677248 PHACTR1 phosphatase and actin regulator 1 ENCODES a protein that exhibits protein phosphatase 1 binding (ortholog); INVOLVED IN cellular response to mechanical stimulus (ortholog); positive regulation of gene expression (ortholog); regulation of phosphorylation (ortholog); ASSOCIATED WITH Acute Coronary Syndrome (ortholog); ARTERIAL DISSECTION (ortholog); atherosclerosis (ortholog); FOUND IN cytoplasm (ortholog); nucleus (ortholog) 6 6 6 23359830 23934840 + 12920920 13508965 + 12560862 13136126 + 30032202 100979637 A0A2R8ZXE7;A0A2R8ZYK9;A0A2R8ZYL5;A0A2R9A156 MODEL JARIFH010000007;XM_024928986;XM_034961450;XM_034961451;XM_034961452;XM_034961453;XM_034961454;XM_034961455;XM_034961456;XM_034961457;XM_034961459;XM_034961460;XM_034961461;XM_034961462;XM_034961463;XM_034961464 XP_024784754;XP_034817341;XP_034817342;XP_034817343;XP_034817344;XP_034817350;XP_034817351;XP_034817352;XP_034817355 A0A2R9A156 LOC100970457;LOC100979637 phosphatase and actin regulator 1-like PROVISIONAL protein-coding ENSPPAG00000028050 6 12922871 13505609 + 11677258 MIGA2 mitoguardin 2 ENCODES a protein that exhibits protein heterodimerization activity (inferred); protein homodimerization activity (inferred); INVOLVED IN bone development (ortholog); ASSOCIATED WITH genetic disease (ortholog); primary coenzyme Q10 deficiency 7 (ortholog); FOUND IN membrane (inferred); mitochondrion (inferred); plasma membrane (inferred) 9 9 9 10282029 10319049 - 128820773 128856977 + 100160068 100197095 + 22301074;30032202 100982789 A0A2R9ADA1 MODEL JARIFH010000010;XM_034929242;XM_034929243;XR_004664361;XR_004664362 XP_034785133;XP_034785134 A0A2R9ADA1 protein-coding ENSPPAG00000029917 9 128820773 128856977 + 11677279 EXOSC3 exosome component 3 ENCODES a protein that exhibits RNA exonuclease activity (ortholog); INVOLVED IN positive regulation of isotype switching (ortholog); ASSOCIATED WITH acromesomelic dysplasia, Maroteaux type (ortholog); distal arthrogryposis type 1A (ortholog); fetal akinesia deformation sequence syndrome 1 (ortholog); FOUND IN cytoplasm (inferred); cytoplasmic exosome (RNase complex) (inferred); cytosol (inferred) 9 9 9 86808332 86835286 + 38552659 38558075 - 37611173 37634869 - 22301074;30032202 100983326 A0A2R9A844;A0A2R9A951 MODEL JARIFH010000010;XM_003805116;XM_008967761;XM_034967452;XM_034967453;XM_055092024;XM_055092025;XM_055092026;XR_008619724;XR_008619725;XR_008619726 XP_008966009;XP_034823343;XP_034823344;XP_054947999;XP_054948000;XP_054948001 A0A2R9A844 exosome complex component RRP40 protein-coding ENSPPAG00000029897 9 38552659 38558078 - 11677292 SLX4IP SLX4 interacting protein ASSOCIATED WITH Alagille syndrome (ortholog); Bardet-Biedl syndrome (ortholog); congenital myasthenic syndrome 18 (ortholog) 20 20 20 11302285 11495706 + 10381239 10570472 + 10380226 10570766 + 100983715 A0A2R9AEE1;A0A2R9AEE6;A0A2R9AJA7 MODEL JARIFH010000021;XM_003810570 XP_003810618 A0A2R9AJA7 UPF0492 protein C20orf94-like protein-coding ENSPPAG00000030976 20 10381239 10572296 + 11677304 LOC100983832 mitochondrial intermembrane space import and assembly protein 40-like 7 7 7 158592241 158592655 + 98036498 98036912 + 84440110 84440524 + 100983832 MODEL JARIFH010000008 mitochondrial intermembrane space import and assembly protein 40 pseudogene APPROVED pseudo 11677305 ARFIP1 ADP ribosylation factor interacting protein 1 ENCODES a protein that exhibits phosphatidylinositol-4-phosphate binding (inferred); protein domain specific binding (inferred); INVOLVED IN intracellular protein transport (ortholog); regulation of protein secretion (ortholog); ASSOCIATED WITH genetic disease (ortholog); FOUND IN cytoplasm (inferred); cytosol (inferred); Golgi membrane (inferred) 4 4 4 151020811 151153701 + 156770384 156901754 + 145119881 145252601 + 22301074;30032202 100984671 A0A2R9AFL7;A0A2R9AKF2;A0A2R9AMB6 MODEL JARIFH010000005;XM_008968906;XM_008968907;XM_008968908;XM_008968909;XM_055111922;XM_055111923;XM_055111924;XM_057302185 XP_008967154;XP_008967155;XP_008967156;XP_008967157;XP_054967897;XP_054967898;XP_054967899;XP_057158168 A0A2R9AMB6 arfaptin-1 protein-coding ENSPPAG00000031157 4 156770510 156901754 + 11677325 TERF2IP TERF2 interacting protein ENCODES a protein that exhibits G-rich strand telomeric DNA binding (inferred); phosphatase binding (inferred); telomeric DNA binding (inferred); INVOLVED IN protection from non-homologous end joining at telomere (ortholog); telomeric loop formation (ortholog); FOUND IN chromosome (inferred); chromosome, telomeric region (inferred); cytoplasm (inferred) 16 16 16 91288270 91297800 + 75565090 75574701 + 56216920 56226612 + 30032202 100985189 A0A2R9CH25;A0A2R9CH83;A0A2R9CQZ1 MODEL JARIFH010000017;XM_003829548 XP_003829596 A0A2R9CH25 telomeric repeat-binding factor 2-interacting protein 1 protein-coding ENSPPAG00000043242 16 75565184 75573882 + 11677332 LOC100986792 wee1-like protein kinase 4 4 4 430378 434263 - 229478 233527 - 204635 208070 - 100986792 MODEL JARIFH010000005 wee1-like protein kinase pseudogene APPROVED pseudo 11677333 MTUS2 microtubule associated scaffold protein 2 ENCODES a protein that exhibits microtubule binding (inferred); protein homodimerization activity (inferred); ASSOCIATED WITH genetic disease (ortholog); FOUND IN centrosome (ortholog); cytoplasmic microtubule (ortholog); nucleus (ortholog) 13 13 13 19518998 20201691 + 28750773 28828688 + 10105838 10788159 + 30032202 100988587 A0A2R9ATD8;A0A2R9AVQ1 MODEL JARIFH010000014;XM_008971601;XM_034936504;XM_034936505;XM_034936506;XM_034936507 XP_008969849;XP_034792395;XP_034792396;XP_034792397 A0A2R9AVQ1 LOC100988587;LOC103786078 microtubule associated tumor suppressor candidate 2;microtubule-associated tumor suppressor candidate 2 APPROVED protein-coding ENSPPAG00000032687 13 28654370 28828688 + 11677346 MRPL42 mitochondrial ribosomal protein L42 ASSOCIATED WITH genetic disease (ortholog); FOUND IN mitochondrial large ribosomal subunit (inferred); mitochondrial small ribosomal subunit (inferred); mitochondrion (inferred) 12 12 12 101506037 101558091 + 94412398 94447500 + 91009591 91056619 + 30032202 100989595 A0A2R9BLQ1;A0A2R9BME7;A0A2R9BMF1 MODEL JARIFH010000013;XM_003816871;XM_008969981;XM_055095982;XM_055095983;XM_055095984;XM_055095986 XP_003816919;XP_008968229;XP_054951957;XP_054951958;XP_054951959;XP_054951961 A0A2R9BME7 39S ribosomal protein L42, mitochondrial protein-coding ENSPPAG00000038254 12 94412398 94447500 + 11677358 CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 ENCODES a protein that exhibits ATP binding (inferred); magnesium ion transmembrane transporter activity (inferred); transmembrane transporter activity (inferred); INVOLVED IN magnesium ion homeostasis (ortholog); magnesium ion transport (ortholog); ASSOCIATED WITH Cardiac Arrhythmias (ortholog); genetic disease (ortholog); hereditary spastic paraplegia (ortholog); FOUND IN basolateral plasma membrane (inferred); membrane (inferred); plasma membrane (inferred) 10 10 10 114810957 114976193 + 102981911 103138886 + 99519187 99687138 + 30032202 100991223 A0A2R9AH81;A0A2R9AI61;A0A2R9AP55 MODEL JARIFH010000011;XM_003825532;XM_034931394 XP_003825580;XP_034787285 A0A2R9AH81 cyclin M2;metal transporter CNNM2 protein-coding ENSPPAG00000031457 10 102982148 103137580 + 11677370 LOC100991769 olfactory receptor 6C6 ENCODES a protein that exhibits G protein-coupled receptor activity (inferred); olfactory receptor activity (inferred); INVOLVED IN detection of chemical stimulus involved in sensory perception of smell (inferred); G protein-coupled receptor signaling pathway (inferred); sensory perception of smell (inferred); FOUND IN lipid droplet (inferred); membrane (inferred); plasma membrane (inferred) 12 12 12 38888053 38891248 + 34194432 34195376 + 33465650 33466728 + 22301074;30032202 100991769 A0A2R8ZQ61 MODEL JARIFH010000013;XM_003807553 XP_003807601 A0A2R8ZQ61 protein-coding ENSPPAG00000024440 12 34194432 34195376 + 11677373 UMPS uridine monophosphate synthetase ENCODES a protein that exhibits identical protein binding (ortholog); orotate phosphoribosyltransferase activity (ortholog); orotidine-5'-phosphate decarboxylase activity (ortholog); INVOLVED IN cellular response to xenobiotic stimulus (ortholog); female pregnancy (ortholog); lactation (ortholog); PARTICIPATES IN beta-ureidopropionase deficiency pathway; de novo pyrimidine biosynthetic pathway; dihydropyrimidinase deficiency pathway; ASSOCIATED WITH alkaptonuria (ortholog); beta thalassemia (ortholog); Breast Neoplasms (ortholog); FOUND IN cytoplasm (inferred); nucleus (inferred) 3 3 3 122696194 122711035 + 128731309 128745241 + 121832758 121851707 + 22301074;30032202 100991899 A0A2R9A1L8;A0A2R9A2S8;A0A2R9A652;A0A2R9A713 MODEL JARIFH010000004;XM_003825217;XM_034957241;XM_055110367 XP_003825265;XP_054966342 A0A2R9A1L8 uridine 5'-monophosphate synthase protein-coding ENSPPAG00000028773 3 128731355 128745029 + 11677383 MGAT4C MGAT4 family member C ASSOCIATED WITH genetic disease (ortholog); FOUND IN Golgi membrane (inferred); membrane (inferred) 12 12 12 94014552 94875224 - 86739352 87211044 - 83506921 84380683 - 30032202 100992134 A0A2R9AJ55 MODEL JARIFH010000013;XM_008962233;XM_034936305;XM_034936306;XM_034936307;XM_034936308;XM_055095961;XM_055095962;XM_055095963 XP_034792197;XP_034792199;XP_054951936;XP_054951937;XP_054951938 A0A2R9AJ55 alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C;mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) protein-coding ENSPPAG00000031798 12 86745263 86793902 - 11677405 LOC100993016 telomeric repeat-binding factor 1-like 4 4 4 134615359 134616509 - 140028975 140030302 - 128708774 128710384 - 100993016 MODEL JARIFH010000005 telomeric repeat-binding factor 1 pseudogene APPROVED pseudo 11677406 CLEC11A C-type lectin domain containing 11A ENCODES a protein that exhibits carbohydrate binding (inferred); growth factor activity (inferred); INVOLVED IN positive regulation of cell population proliferation (inferred); signal transduction (inferred); ASSOCIATED WITH anemia (ortholog); carotid stenosis (ortholog); genetic disease (ortholog); FOUND IN extracellular region (inferred) 19 19 19 58686688 58713994 + 56582922 56588580 + 47682806 47690389 + 100993206 A0A2R9BRQ3 MODEL JARIFH010000020;XM_003813634;XM_008966160;XM_034944361;XM_034944363;XM_055103379 XP_003813682;XP_008964408;XP_034800252;XP_034800254;XP_054959354 A0A2R9BRQ3 C-type lectin domain family 11 member A APPROVED protein-coding ENSPPAG00000038496 19 56586183 56588580 + 11677417 LOC100993230 FLYWCH-type zinc finger-containing protein 1-like 3 3 3 178694999 178698268 - 186026219 186028061 - 177853837 177857104 - 100993230 MODEL JARIFH010000004 FLYWCH-type zinc finger-containing protein 1 pseudogene APPROVED pseudo 11677418 NELL1 neural EGFL like 1 ENCODES a protein that exhibits heparin binding (ortholog); identical protein binding (ortholog); protein kinase C binding (ortholog); INVOLVED IN positive regulation of apoptotic process (ortholog); positive regulation of ossification (ortholog); regulation of osteoblast differentiation (ortholog); ASSOCIATED WITH craniosynostosis (ortholog); esophagus adenocarcinoma (ortholog); genetic disease (ortholog); FOUND IN extracellular space (ortholog) 11 11 11 22933560 23837166 + 20607371 21508938 + 20697153 21600601 + 22301074 100994129 A0A2R9BHN0;A0A2R9BHN3;A0A2R9BHP0;A0A2R9BLA2 MODEL JARIFH010000012;XM_003830453;XM_003830454 XP_003830501;XP_003830502 A0A2R9BHN0 NEL-like 1 protein-coding ENSPPAG00000037559 11 20607526 21508486 + 11677443 DLG5 discs large MAGUK scaffold protein 5 ENCODES a protein that exhibits beta-catenin binding (inferred); cytoskeletal protein binding (inferred); INVOLVED IN apical protein localization (ortholog); epithelial tube branching involved in lung morphogenesis (ortholog); establishment or maintenance of epithelial cell apical/basal polarity (ortholog); ASSOCIATED WITH genetic disease (ortholog); Genitopatellar Syndrome (ortholog); paroxysmal nonkinesigenic dyskinesia 3 (ortholog); FOUND IN glutamatergic synapse (ortholog); postsynaptic density (ortholog) 10 10 10 89944629 90080557 - 76974106 77110109 - 74311249 74447312 - 22301074 100996192 A0A2R9CAI5 MODEL JARIFH010000011;XM_008965578;XM_008965579 XP_008963826;XP_008963827 A0A2R9CAI5 disks large homolog 5 protein-coding ENSPPAG00000041668 10 76972573 77110115 - 11677481 MIR31 microRNA mir-31 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 103026090 103026160 + 21990168 21990238 - 21373076 21373146 - 15652478;16381832 102464134 PROVISIONAL JARIFH010000010;NR_106549 ppa-mir-31 microRNA 31 APPROVED ncrna ENSPPAG00000017814 9 21990168 21990238 - 11677484 MIR183 microRNA mir-183 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 18602748 18602857 - 134258009 134258118 - 121737478 121737587 - 15652478;16381832 102464206 PROVISIONAL JARIFH010000008;NR_106606 ppa-mir-183 microRNA 183 APPROVED ncrna ENSPPAG00000001244 7 134258009 134258118 - 11677492 LOC103783235 U3 small nucleolar RNA-associated protein 6 homolog 15 15 15 45276620 45279565 - 49130210 49133150 - 30800832 30803777 - 103783235 MODEL JARIFH010000016 U3 small nucleolar RNA-associated protein 6 homolog pseudogene APPROVED pseudo 11677508 LOC103785890 tropomyosin alpha-3 chain-like 1 1 1 95375223 95385242 + 133155924 133161979 - 129546554 129547552 - 30032202 103785890 MODEL JARIFH010000001;XM_034936332 XP_034792223 protein-coding 11677530 KLHL41 kelch like family member 41 INVOLVED IN pseudopodium assembly (ortholog); regulation of skeletal muscle cell differentiation (ortholog); ASSOCIATED WITH Bardet-Biedl syndrome (ortholog); genetic disease (ortholog); hypertrophic cardiomyopathy (ortholog); FOUND IN pseudopodium (ortholog) 2B 2B 2B 72183087 72202911 + 174248884 174265508 + 56778475 56798317 + 22301074 103787065 A0A2R9AIL0 MODEL JARIFH010000003;XM_008978044;XM_034954450 XP_008976292;XP_034810341 A0A2R9AIL0 kelch-like protein 41 protein-coding ENSPPAG00000031683 2B 174248884 174265508 + 11677540 LOC106634346 40S ribosomal protein S3a-like 3 4 75499468 75501544 - 9045885 9046665 + 106634346 MODEL JARIFH010000004 LOC100971689;LOC100987734 40S ribosomal protein S3a pseudogene APPROVED pseudo 11677541 LOC106634562 uncharacterized LOC106634562 3 3 3 37143207 37177077 + 37371522 37403744 + 37082971 37116829 + 106634562 MODEL JARIFH010000004;XR_003027570;XR_003027571;XR_004670496 ncrna 11677547 LOC106635464 60S ribosomal protein L26-like 14 14 14 23339869 23341646 - 21612552 21612989 - 3512083 3513032 - 106635464 MODEL JARIFH010000015 pseudo 11677552 LOC100968488 methyl-CpG-binding domain protein 3-like 2 FOUND IN nucleus (inferred) 19 19 19 10647658 10657757 - 6968884 6971163 - 6047453 6048817 - 100968488 A0A2R9CBB9 MODEL JARIFH010000020;XM_034945397;XM_055102964 XP_054958939 A0A2R9CBB9 protein-coding ENSPPAG00000042336 11677557 TMEM184C transmembrane protein 184C ASSOCIATED WITH genetic disease (ortholog); methylmalonic acidemia cblA type (ortholog); Neurodevelopmental Disorders (ortholog); FOUND IN membrane (inferred) 4 4 4 145855474 145873330 + 151611162 151629099 + 139955785 139975738 + 30032202 100969863 A0A2R9AN83;A0A2R9ASS4 MODEL JARIFH010000005;XM_003815855;XM_008968881 XP_008967129 A0A2R9AN83 protein-coding ENSPPAG00000032567 4 151611162 151665508 + 11677579 LOC100970919 olfactory receptor 5AC1 3 3 3 95982842 95983765 + 101821226 101822149 + 95137384 95138307 + 22301074;30032202 100970919 MODEL JARIFH010000004;XM_003821888 XP_003821936 protein-coding 11677582 SUPT3H SPT3 homolog, SAGA and STAGA complex component ENCODES a protein that exhibits transcription coactivator activity (ortholog); INVOLVED IN regulation of transcription by RNA polymerase II (ortholog); PARTICIPATES IN RNA polymerase II transcription initiation pathway; ASSOCIATED WITH cleidocranial dysplasia (ortholog); genetic disease (ortholog); metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome (ortholog); FOUND IN nucleoplasm (ortholog); transcription factor TFTC complex (ortholog) 6 6 6 55185516 55738622 - 45687038 46239155 - 44406978 44960039 - 22301074;30032202 100971006 A0A2R9ADV5;A0A2R9AIQ8;A0A2R9AK80 MODEL JARIFH010000007;XM_003833215;XM_008958690;XM_008958691;XM_008958692;XM_024929277;XM_034962204;XM_055113659;XM_057302510;XR_001338235;XR_003028305;XR_008625626;XR_008955665 XP_008956939;XP_008956940;XP_034818095;XP_054969634;XP_057158493 A0A2R9AK80 suppressor of Ty 3 homolog;transcription initiation protein SPT3 homolog protein-coding ENSPPAG00000030879 11677618 LOC100971977 uncharacterized LOC100971977 6 6 6 157317851 157336355 - 141298109 141314947 - 137218475 137236813 - 100971977 MODEL JARIFH010000007;XR_608721 ncrna 11677623 LOC100972772 mitochondrial import receptor subunit TOM22 homolog 10 10 10 130509305 130511546 + 118639478 118640387 + 115216568 115217743 + 100972772 MODEL JARIFH010000011;XM_034931760 mitochondrial import receptor subunit TOM22 homolog pseudogene APPROVED pseudo 11677624 LOC100974571 cancer/testis antigen 55-like X X 134614504 134633329 + 124322317 124340314 + 100974571 MODEL JARIFH010000024;XM_003804468;XM_055106894 XP_054962869 protein-coding 11677625 COL1A2 collagen type I alpha 2 chain ENCODES a protein that exhibits extracellular matrix structural constituent (inferred); identical protein binding (inferred); platelet-derived growth factor binding (inferred); INVOLVED IN bone mineralization (ortholog); cellular response to amino acid stimulus (ortholog); cellular response to organic substance (ortholog); PARTICIPATES IN endothelin signaling pathway; interleukin-4 signaling pathway; syndecan signaling pathway; ASSOCIATED WITH Acute Liver Failure (ortholog); ARTERIAL DISSECTION (ortholog); Bruck Syndrome 1 (ortholog); FOUND IN collagen type I trimer (ortholog) 7 7 7 160497349 160533186 + 99935185 99971810 + 86344657 86381282 + 22301074 100974826 A0A2R9CE70 MODEL JARIFH010000008;XM_003809715 XP_003809763 A0A2R9CE70 collagen alpha-2(I) chain protein-coding ENSPPAG00000042352 7 99935185 99971803 + 11677681 LOC100975520 40S ribosomal protein S24-like 18 18 18 29220502 29224551 + 22961289 22966348 + 19352207 19357769 + 100975520 MODEL JARIFH010000019;XM_008955820 40S ribosomal protein S24 pseudogene;uncharacterized LOC100975520 APPROVED pseudo 11677687 ZNF385B zinc finger protein 385B ENCODES a protein that exhibits p53 binding (ortholog); INVOLVED IN intrinsic apoptotic signaling pathway by p53 class mediator (ortholog); ASSOCIATED WITH genetic disease (ortholog); FOUND IN nucleus (ortholog) 2B 2B 2B 82103722 82524850 - 184400194 184727442 - 66696635 67115011 - 22301074;30032202 100976446 A0A2R9B5A3;A0A2R9B6S1;A0A2R9B914 MODEL JARIFH010000003;XM_008968486;XM_034954594;XM_034954595;XM_034954596;XM_034954597;XM_034954598;XM_055108825;XM_055108826;XM_055108827;XM_055108829;XR_004670237 XP_034810485;XP_034810486;XP_034810487;XP_034810488;XP_034810489;XP_054964800;XP_054964801;XP_054964802;XP_054964804 A0A2R9B914 protein-coding ENSPPAG00000035510 2B 184400205 184726522 - 11677707 NOL8 nucleolar protein 8 ENCODES a protein that exhibits nucleic acid binding (inferred); RNA binding (inferred); INVOLVED IN cellular response to leukemia inhibitory factor (ortholog); ASSOCIATED WITH genetic disease (ortholog); hereditary sensory and autonomic neuropathy type 1 (ortholog); hereditary sensory neuropathy (ortholog); FOUND IN chromosome (inferred); nucleolus (inferred); nucleus (inferred) 9 9 9 47106688 47134814 + 91492883 91521466 - 63419188 63447316 - 22301074;30032202 100976629 A0A2R8Z7C8;A0A2R8Z7E0;A0A2R8Z7I4;A0A2R8ZB64;A0A2R8ZDP3 MODEL JARIFH010000010;XM_008959975;XM_008959976;XM_008959977;XM_008959978;XM_034967709;XM_034967710 XP_008958223;XP_008958224;XP_008958225;XP_008958226;XP_034823600;XP_034823601 A0A2R8ZB64 protein-coding ENSPPAG00000002204 9 91493241 91519621 - 11677738 LOC100978077 guanylate cyclase 2G-like 10 10 10 124189890 124238298 - 112339961 112388172 - 108895460 108948772 - 22301074;30032202 100978077 MODEL JARIFH010000011;XM_034929819;XM_057298783 XP_057154766 protein-coding 11677761 FAM174C family with sequence similarity 174 member C ASSOCIATED WITH cerebral creatine deficiency syndrome (ortholog); cyclic hematopoiesis (ortholog); FOUND IN cytoplasm (ortholog); extracellular region (ortholog) 19 4853961 4858344 + 100978156 MODEL JARIFH010000020;XR_004669419 LOC100978156 uncharacterized LOC100978156 APPROVED ncrna 11677762 LOC100978454 ATP synthase F(0) complex subunit C1, mitochondrial-like 10 10 10 88989628 88992255 + 76021067 76021607 + 73357750 73358938 + 100978454 MODEL JARIFH010000011 ATP synthase F(0) complex subunit C1, mitochondrial pseudogene APPROVED pseudo 11677763 LOC100979007 bromodomain-containing protein 7-like ENCODES a protein that exhibits histone binding (inferred); lysine-acetylated histone binding (inferred); p53 binding (inferred); INVOLVED IN negative regulation of DNA-templated transcription (inferred); negative regulation of G1/S transition of mitotic cell cycle (inferred); positive regulation of DNA-templated transcription (inferred); FOUND IN cytosol (inferred); nucleoplasm (inferred); nucleus (inferred) 3 3 3 158047434 158049710 + 165175013 165177126 + 157125954 157128100 + 30032202 100979007 A0A2R9BQ81;A0A2R9BQY0;A0A2R9BTQ8;A0A2R9BZ96 MODEL JARIFH010000004;XM_034957673 XP_034813564 A0A2R9BTQ8 LOC106634620 bromodomain-containing protein 7 pseudogene APPROVED protein-coding ENSPPAG00000008338;ENSPPAG00000038742 16 49463048 49514386 - 11677766 TOGARAM2 TOG array regulator of axonemal microtubules 2 INVOLVED IN regulation of cellular component organization (inferred); ASSOCIATED WITH autosomal recessive nonsyndromic deafness (ortholog); genetic disease (ortholog); Neuroblastoma 3 (ortholog) 2A 2A 2A 97457556 97553820 - 29067528 29138303 + 28988636 29060548 + 30032202 100979549 A0A2R8ZYW5 MODEL JARIFH010000002;XM_003827141;XM_003827142;XM_055108101;XM_055108102 XP_003827189;XP_054964076;XP_054964077 A0A2R8ZYW5 FAM179A TOG array regulator of axonemal microtubules protein 2;family with sequence similarity 179 member A protein-coding ENSPPAG00000027706 2A 29067528 29138303 + 11677791 BICRA BRD4 interacting chromatin remodeling complex associated protein ENCODES a protein that exhibits transcription regulator activator activity (inferred); INVOLVED IN positive regulation of DNA-templated transcription (inferred); ASSOCIATED WITH Coffin-Siris syndrome 12 (ortholog); Developmental Disease (ortholog); genetic disease (ortholog); FOUND IN nucleus (inferred); SWI/SNF complex (inferred) 19 19 19 55625824 55726687 + 53254437 53351847 + 44600696 44697643 + 30032202 100979573 A0A2R8ZEJ2 MODEL JARIFH010000020;XM_034946664;XM_055103491 XP_034802555;XP_054959466 A0A2R8ZEJ2 GLTSCR1 glioma tumor suppressor candidate region gene 1 APPROVED protein-coding ENSPPAG00000003935 19 53323064 53350987 + 11677810 PPOX protoporphyrinogen oxidase ENCODES a protein that exhibits oxygen-dependent protoporphyrinogen oxidase activity (ortholog); INVOLVED IN heme A biosynthetic process (ortholog); heme B biosynthetic process (ortholog); heme biosynthetic process (ortholog); PARTICIPATES IN acute intermittent porphyria pathway; erythropoietic porphyria pathway; heme biosynthetic pathway; ASSOCIATED WITH acute intermittent porphyria (ortholog); autoimmune interstitial lung, joint, and kidney disease (ortholog); Colorectal Neoplasms (ortholog); FOUND IN mitochondrial inner membrane (ortholog); mitochondrial intermembrane space (ortholog) 1 1 1 88351824 88376257 - 140491667 140496506 + 136578846 136590466 + 22301074;30032202 100979906 A0A2R9B3C3;A0A2R9B4Z3;A0A2R9B516;A0A2R9B771;A0A2R9B786 MODEL JARIFH010000001;XM_003811840;XM_003811841;XM_008964226;XM_024929785;XM_024929795;XM_024929798;XM_034938787;XM_034938794;XM_034938799;XM_034938803;XM_034938808;XM_034938818;XM_034938829;XM_034938835;XM_034938837;XM_034938839;XM_034938848;XM_034938853;XM_055112416;XM_057302297;XM_057302298 XP_003811888;XP_024785553;XP_034794678;XP_034794690;XP_034794726;XP_034794728;XP_034794730;XP_054968391;XP_057158280;XP_057158281 A0A2R9B4Z3 protein-coding ENSPPAG00000035169 1 140491667 140502328 + 11677837 ITPR2 inositol 1,4,5-trisphosphate receptor type 2 ENCODES a protein that exhibits calcium ion binding (ortholog); inositol 1,4,5 trisphosphate binding (ortholog); inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (ortholog); INVOLVED IN calcium ion transport (ortholog); cellular response to ethanol (ortholog); cellular response to hypoxia (ortholog); PARTICIPATES IN calcium transport pathway; calcium/calcium-mediated signaling pathway; ASSOCIATED WITH amyotrophic lateral sclerosis (ortholog); Brain Hypoxia (ortholog); Cardiomegaly (ortholog); FOUND IN axon (ortholog); endoplasmic reticulum membrane (ortholog); sarcoplasmic reticulum (ortholog) 12 12 12 69978015 70484024 + 62093208 62596018 + 59478206 59984572 + 22301074 100980378 A0A2R8ZX40;A0A2R8ZY93;A0A2R8ZYA4;A0A2R9A0U5 MODEL JARIFH010000013;XM_003828909;XM_034936144;XR_004665727 XP_003828957 A0A2R9A0U5 protein-coding ENSPPAG00000027820 12 62092241 62596018 + 11677898 FADS2 fatty acid desaturase 2 ENCODES a protein that exhibits oxidoreductase activity (inferred); oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (inferred); stearoyl-CoA 9-desaturase activity (inferred); INVOLVED IN cellular biosynthetic process (inferred); fatty acid biosynthetic process (inferred); fatty acid metabolic process (inferred); PARTICIPATES IN alpha-linolenic acid metabolic pathway; linoleic acid metabolic pathway; ASSOCIATED WITH bipolar disorder (ortholog); Chemical and Drug Induced Liver Injury (ortholog); Colorectal Neoplasms (ortholog); FOUND IN endoplasmic reticulum (inferred); endoplasmic reticulum membrane (inferred); membrane (inferred) 11 11 11 64105033 64145117 + 60552600 60591649 + 57192881 57232574 + 22301074;30032202 100980611 A0A2R9BK72;A0A2R9BKZ6;A0A2R9BTZ7;A0A2R9BU03 MODEL JARIFH010000012;XM_003828461;XM_008953880;XM_055094408 XP_003828509;XP_008952128;XP_054950383 A0A2R9BKZ6 acyl-CoA 6-desaturase protein-coding ENSPPAG00000038024 11 60476082 60591649 + 11677918 HOMER1 homer scaffold protein 1 ENCODES a protein that exhibits identical protein binding (ortholog); molecular adaptor activity (ortholog); protein-containing complex binding (ortholog); INVOLVED IN behavioral response to cocaine (ortholog); circadian rhythm (ortholog); G protein-coupled glutamate receptor signaling pathway (ortholog); ASSOCIATED WITH Cocaine-Related Disorders (ortholog); Drug-Induced Dyskinesia (ortholog); Drug-Related Side Effects and Adverse Reactions (ortholog); FOUND IN dendrite (ortholog); dendritic shaft (ortholog); dendritic spine (ortholog) 5 5 5 33939170 34080335 + 36065045 36205928 + 35794627 35936111 + 22301074;30032202 100980670 A0A2R9ALN9;A0A2R9AMA1;A0A2R9AR35;A0A2R9AR54;A0A2R9AR73;A0A2R9ATN4 MODEL JARIFH010000006;XM_003822281;XM_008975803 XP_003822329 A0A2R9ALN9 homer homolog 1;homer protein homolog 1;homer scaffolding protein 1 APPROVED protein-coding ENSPPAG00000032101 5 36064665 36205928 + 11677938 EYA4 EYA transcriptional coactivator and phosphatase 4 ENCODES a protein that exhibits transcription factor binding (ortholog); INVOLVED IN inner ear development (ortholog); middle ear morphogenesis (ortholog); sensory perception of sound (ortholog); ASSOCIATED WITH autosomal dominant nonsyndromic deafness 10 (ortholog); Colorectal Neoplasms (ortholog); congestive heart failure (ortholog); FOUND IN nucleus (inferred) 6 6 6 151130319 151419079 + 135116275 135405295 + 131016143 131306251 + 22301074;30032202 100981157 A0A2R8ZUW7;A0A2R8ZUX2;A0A2R8ZUY5;A0A2R8ZW26;A0A2R8ZY72;A0A2R8ZYA2;A0A2R9A0J5;A0A2R9A0K6 MODEL JARIFH010000007;XM_003827673;XM_008953018;XM_034962872;XM_034962874;XM_034962875;XM_055114129;XM_055114130;XM_055114131;XM_055114132;XM_055114133;XM_055114134;XM_055114135;XM_057302596 XP_003827721;XP_034818763;XP_034818766;XP_054970104;XP_054970105;XP_054970106;XP_054970107;XP_054970108;XP_054970109;XP_054970110;XP_057158579 A0A2R8ZY72 eyes absent homolog 4 protein-coding ENSPPAG00000027539 6 135116978 135404403 + 11677973 BNIP5 BCL2 interacting protein 5 ASSOCIATED WITH JMP syndrome (ortholog); prostate cancer (ortholog) 6 6 6 46647306 46665404 - 37074352 37095494 - 35873854 35888962 - 100981206 A0A2R9AW23 MODEL JARIFH010000007;XM_034961968 XP_034817859 A0A2R9AW23 C6H6orf222 chromosome 6 C6orf222 homolog;chromosome 6 open reading frame, human C6orf222;uncharacterized protein C6orf222 homolog APPROVED protein-coding ENSPPAG00000033922 6 37077906 37089299 - 11677989 LOC100981537 ATP synthase F(0) complex subunit B1, mitochondrial-like 2B 2B 2B 55848173 55849030 + 157684235 157685092 + 40445854 40446711 + 100981537 MODEL JARIFH010000003 ATP synthase F(0) complex subunit B1, mitochondrial pseudogene APPROVED pseudo 11677990 LOC100981887 olfactory receptor 10Z1 ASSOCIATED WITH Elliptocytosis 2 (ortholog); gastrointestinal stromal tumor (ortholog); genetic disease (ortholog) 1 1 1 90978795 90986009 - 137756134 137757075 + 133965449 133966390 + 22301074 100981887 MODEL JARIFH010000001;XM_057302373 XP_057158356 protein-coding 11677994 LOC100984217 calponin-2-like 20 4 20 32713639 32714668 + 195617343 195618273 - 26676005 26677034 - 100984217 MODEL JARIFH010000021 calponin-2 pseudogene APPROVED pseudo 11677995 LOC100984246 CMT1A duplicated region transcript 15 like 2 ASSOCIATED WITH autistic disorder (ortholog); genetic disease (ortholog); FOUND IN membrane (inferred) 17 17 17 61851695 61854053 + 42060430 42062503 + 34687352 34689552 + 100984246 A0A2R9CG51 MODEL JARIFH010000018;XM_003805540 XP_003805588 A0A2R9CG51 CDRT15L2;LOC117976670 CMT1A duplicated region transcript 15 protein-like protein;CMT1A duplicated region transcript 15-like 2 PROVISIONAL protein-coding ENSPPAG00000043104 17 42060430 42062500 + 11678001 ZBTB9 zinc finger and BTB domain containing 9 ENCODES a protein that exhibits identical protein binding (inferred); ASSOCIATED WITH autosomal dominant intellectual developmental disorder 5 (ortholog); genetic disease (ortholog); JMP syndrome (ortholog) 6 6 6 43806761 43809761 + 34144776 34148349 + 33033213 33036926 + 22301074;30032202 100984722 A0A2R8ZJ67 MODEL JARIFH010000007;XM_003808564;XM_008960626;XM_014345325 XP_003808612;XP_008958874 A0A2R8ZJ67 zinc finger and BTB domain-containing protein 9 protein-coding ENSPPAG00000016279 6 34145906 34147327 + 11678013 C10H10orf62 chromosome 10 C10orf62 homolog ASSOCIATED WITH genetic disease (ortholog) 10 10 10 109502339 109508342 + 97701693 97703608 + 94208946 94211468 + 100985364 MODEL JARIFH010000011;XM_003825437 XP_003825485 chromosome 10 open reading frame, human C10orf62;uncharacterized protein C10orf62 homolog APPROVED protein-coding 11678018 OXR1 oxidation resistance 1 ENCODES a protein that exhibits oxidoreductase activity (inferred); INVOLVED IN adult walking behavior (ortholog); cellular response to hydroperoxide (ortholog); negative regulation of cellular response to oxidative stress (ortholog); ASSOCIATED WITH cerebellar hyplasia/atrophy, epilepsy, and global developmental delay (ortholog); cerebellar hypoplasia (ortholog); epilepsy (ortholog); FOUND IN nucleolus (inferred) 8 8 8 99150314 99639152 + 105143466 105539556 + 102904139 103392971 + 30032202 100988157 A0A2R8ZJ44;A0A2R8ZJ87;A0A2R8ZJ93;A0A2R8ZJY4;A0A2R8ZK27;A0A2R8ZK37;A0A2R8ZK48;A0A2R8ZM66;A0A2R8ZQD0 MODEL JARIFH010000009;XM_008975219;XM_008975220;XM_008975221;XM_014345984;XM_034966477;XM_034966478;XM_034966479;XM_034966480;XM_034966481;XM_057303073 XP_008973467;XP_008973468;XP_008973469;XP_014201470;XP_034822368;XP_034822369;XP_034822370;XP_034822372;XP_057159056 A0A2R8ZK27 oxidation resistance protein 1 protein-coding ENSPPAG00000020712 8 105143466 105685965 + 11678051 LOC100989047 uncharacterized LOC100989047 ASSOCIATED WITH maple syrup urine disease (ortholog) 6 6 6 97766831 97774113 - 80955812 80964446 - 77686578 77694637 - 100989047 MODEL JARIFH010000007;XM_034962424;XM_034962426;XR_004672037;XR_008625667;XR_008625668 LINC01621 long intergenic non-protein coding RNA 1621;uncharacterized protein C6H6orf7;uncharacterized protein LOC100989047 APPROVED protein-coding 11678063 LOC100989712 olfactory receptor 10T2-like 11 11 11 10091646 10092927 + 7505596 7506876 + 7821102 7824036 + 22301074 100989712 MODEL JARIFH010000012;XM_008972477 XP_008970725 protein-coding 11678068 PDHX pyruvate dehydrogenase complex component X ENCODES a protein that exhibits pyruvate dehydrogenase (NAD+) activity (ortholog); INVOLVED IN acetyl-CoA biosynthetic process from pyruvate (inferred); carboxylic acid metabolic process (inferred); PARTICIPATES IN pyruvate metabolic pathway; ASSOCIATED WITH genetic disease (ortholog); intellectual disability (ortholog); pyruvate decarboxylase deficiency (ortholog); FOUND IN mitochondrial pyruvate dehydrogenase complex (ortholog) 11 11 11 37141767 37221219 + 34764450 34844166 + 34889242 34968886 + 22301074;30032202 100991366 A0A2R9ACF8;A0A2R9AIF7 MODEL JARIFH010000012;XM_003830374;XM_008955851;XM_034932396 XP_003830422;XP_008954099 A0A2R9ACF8 pyruvate dehydrogenase protein X component, mitochondrial protein-coding ENSPPAG00000030642 11 34764450 34844166 + 11678087 ELF4 E74 like ETS transcription factor 4 ENCODES a protein that exhibits DNA binding (inferred); DNA-binding transcription activator activity, RNA polymerase II-specific (inferred); DNA-binding transcription factor activity (inferred); INVOLVED IN natural killer cell proliferation (inferred); negative regulation of inflammatory response (inferred); negative regulation of interleukin-1 beta production (inferred); ASSOCIATED WITH autistic disorder (ortholog); AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 (ortholog); genetic disease (ortholog); FOUND IN nuclear body (inferred); nucleoplasm (inferred); nucleus (inferred) X X X 129489178 129536178 - 129486097 129531764 - 119191921 119237548 - 22301074;30032202 100991633 A0A2R9CGX1;A0A2R9CJH2 MODEL JARIFH010000024;XM_003818937;XM_055106922;XM_055106923;XM_057301043 XP_003818985;XP_054962897;XP_054962898;XP_057157026 A0A2R9CGX1 ETS-related transcription factor Elf-4 protein-coding ENSPPAG00000043203 X 129486097 129531764 - 11678104 PML PML nuclear body scaffold ENCODES a protein that exhibits cobalt ion binding (ortholog); identical protein binding (ortholog); protein heterodimerization activity (ortholog); INVOLVED IN apoptotic process (ortholog); branching involved in mammary gland duct morphogenesis (ortholog); cell fate commitment (ortholog); PARTICIPATES IN mTOR signaling pathway; transforming growth factor-beta Smad dependent signaling pathway; ASSOCIATED WITH acute promyelocytic leukemia (ortholog); Bardet-Biedl syndrome (ortholog); Bloom syndrome (ortholog); FOUND IN cytosol (ortholog); heterochromatin (ortholog); nuclear matrix (ortholog) 15 15 15 67381987 67433255 + 71658884 71710883 + 52903874 52955151 + 16460575;22301074;30032202 100993007 A0A2R9A6X2;A0A2R9A6Y4;A0A2R9A6Z6;A0A2R9A800;A0A2R9AC66;Q15JE2 PROVISIONAL DQ231463;JARIFH010000016;NM_001279241;XM_008971849;XM_008971850;XM_008971851;XM_008971852;XM_008971853;XM_008971854;XM_008971855;XM_008971856;XM_008971857;XM_008971858;XM_008971861;XM_008971862;XM_008971863;XM_024925586;XM_055098136;XM_055098137;XM_055098138 ABB59718;NP_001266170;XP_008970097;XP_008970098;XP_008970099;XP_008970100;XP_008970101;XP_008970102;XP_008970103;XP_008970104;XP_008970105;XP_008970106;XP_008970110;XP_008970111;XP_024781354;XP_054954111;XP_054954112;XP_054954113 A0A2R9A800 promyelocytic leukemia;promyelocytic leukemia protein;protein PML APPROVED protein-coding ENSPPAG00000029628 15 71658884 71710883 + 11678153 LOC100993262 uncharacterized LOC100993262 17 17 61449669 61469953 + 34880899 34902796 - 100993262 MODEL JARIFH010000018;XR_004667441;XR_004667442 ZSWIM7 ncrna 11678154 ODC1 ornithine decarboxylase 1 ENCODES a protein that exhibits ornithine decarboxylase activity (ortholog); protein homodimerization activity (ortholog); INVOLVED IN cell population proliferation (ortholog); kidney development (ortholog); polyamine metabolic process (ortholog); PARTICIPATES IN polyamine metabolic pathway; putrescine metabolic pathway; spermidine metabolic pathway; ASSOCIATED WITH Colonic Neoplasms (ortholog); Colorectal Neoplasms (ortholog); genetic disease (ortholog); FOUND IN cytoplasm (ortholog); cytosol (ortholog); perinuclear region of cytoplasm (ortholog) 2A 2A 2A 116066565 116076289 + 10598125 10607152 - 10443308 10451412 - 30032202 100993312 A0A2R8ZEL7 MODEL JARIFH010000002;XM_034952603;XM_055108248;XM_055108249;XM_055108250 XP_034808494;XP_054964223;XP_054964224;XP_054964225 A0A2R8ZEL7 ornithine decarboxylase protein-coding ENSPPAG00000004476 2A 10598125 10607152 - 11678175 LY96 lymphocyte antigen 96 ENCODES a protein that exhibits lipopolysaccharide binding (inferred); lipopolysaccharide immune receptor activity (inferred); Toll-like receptor 4 binding (inferred); INVOLVED IN lipopolysaccharide-mediated signaling pathway (ortholog); positive regulation of lipopolysaccharide-mediated signaling pathway (ortholog); response to lipopolysaccharide (ortholog); PARTICIPATES IN Toll-like receptor signaling pathway; ASSOCIATED WITH Bacterial Keratitis (ortholog); carcinoma (ortholog); Charcot-Marie-Tooth disease axonal type 2K (ortholog); FOUND IN receptor complex (ortholog) 8 8 8 65362059 65408612 + 72169986 72207380 + 70525058 70567839 + 18810425;30032202 100993692 A0A2R9A3U6;B3Y6A7 PROVISIONAL AB446500;JARIFH010000009;NM_001279220;XM_008956642;XM_034965517 BAG55277;NP_001266149;XP_008954890;XP_034821408 B3Y6A7 MD2 protein-coding ENSPPAG00000028427 8 72169986 72207372 + 11678188 E2F7 E2F transcription factor 7 ENCODES a protein that exhibits cis-regulatory region sequence-specific DNA binding (inferred); DNA binding (inferred); DNA-binding transcription factor activity (inferred); INVOLVED IN negative regulation of cell population proliferation (ortholog); regulation of DNA-templated transcription (ortholog); ASSOCIATED WITH Disease Progression (ortholog); genetic disease (ortholog); lung non-small cell carcinoma (ortholog); FOUND IN nuclear speck (inferred); nucleus (inferred); transcription regulator complex (inferred) 12 12 12 85054112 85098451 - 77388950 77433262 - 74540049 74582561 - 30032202 100994943 A0A2R8Z7C7;A0A2R8Z7E6;A0A2R8ZDR3 MODEL JARIFH010000013;XM_003832879;XM_008958346;XM_008958348;XM_008958349;XM_008958350;XM_008958351 XP_003832927;XP_008956594;XP_008956598;XP_008956599 A0A2R8ZDR3 transcription factor E2F7 protein-coding ENSPPAG00000002532 12 77388950 77433262 - 11678218 MRTFA myocardin related transcription factor A ENCODES a protein that exhibits actin monomer binding (ortholog); DNA-binding transcription factor activity (ortholog); leucine zipper domain binding (ortholog); INVOLVED IN actin cytoskeleton organization (ortholog); forebrain development (ortholog); negative regulation of apoptotic signaling pathway (ortholog); ASSOCIATED WITH acute megakaryocytic leukemia (ortholog); adenylosuccinase lyase deficiency (ortholog); genetic disease (ortholog); FOUND IN cytoplasm (ortholog); nucleus (ortholog) 22 22 22 52950372 53172160 - 39411890 39581958 - 21314829 21536673 - 30032202 100995855 A0A2R8ZJ51;A0A2R8ZJ56;A0A2R8ZJ74 MODEL JARIFH010000023;XM_034948323;XM_034948324;XM_034948325;XM_034948326;XM_055105378;XM_057300975 XP_034804214;XP_034804215;XP_054961353;XP_057156958 A0A2R8ZJ74 MKL1 megakaryoblastic leukemia (translocation) 1;myocardin-related transcription factor A APPROVED protein-coding ENSPPAG00000020762 22 39413002 39467402 - 11678248 LOC103783397 uncharacterized LOC103783397 5 5 5 131746889 131749216 + 139843616 139848668 + 133711792 133715904 + 103783397 MODEL JARIFH010000006;XR_004671664;XR_008625504 oocyte-specific histone RNA stem-loop-binding protein 2-like APPROVED ncrna 11678249 LOC103783554 zinc finger protein 486-like 19 19 19 24063084 24071879 - 20589038 20754428 - 19560257 19671528 - 22301074 103783554 MODEL JARIFH010000020;XM_008970961;XM_034944159;XM_034944160;XM_055102848;XR_004667706;XR_004667707;XR_004667708;XR_004667709;XR_004667710;XR_004667711;XR_004667712 XP_054958823 LOC103785962 putative zinc finger protein 56;uncharacterized protein LOC103783554;zinc finger protein 506-like;zinc finger protein 718-like;zinc finger protein 90-like APPROVED protein-coding 11678274 ZSCAN5B zinc finger and SCAN domain containing 5B ASSOCIATED WITH genetic disease (ortholog); FOUND IN nucleus (inferred) 19 19 19 64268489 64277538 - 62011216 62014576 - 53215481 53219395 - 30032202 103784690 A0A2R8ZAP5 MODEL JARIFH010000020;XM_008962175;XM_024926569 XP_024782337 A0A2R8ZAP5 LOC103784690 zinc finger and SCAN domain-containing protein 5B APPROVED protein-coding ENSPPAG00000009603 19 62011216 62019294 - 11678291 LOC100967521 keratin, type I cytoskeletal 18-like 22 22 22 57098149 57100118 + 43650749 43651789 + 25465801 25466995 + 100967521 MODEL JARIFH010000023;XR_003026636 keratin, type I cytoskeletal 18 pseudogene APPROVED pseudo 11678292 NKIRAS1 NFKB inhibitor interacting Ras like 1 ENCODES a protein that exhibits GTP binding (inferred); GTPase activating protein binding (inferred); GTPase activity (inferred); INVOLVED IN lung alveolus development (ortholog); Ral protein signal transduction (ortholog); regulation of tumor necrosis factor-mediated signaling pathway (ortholog); ASSOCIATED WITH Diamond-Blackfan anemia 12 (ortholog); genetic disease (ortholog); FOUND IN cytosol (inferred); endoplasmic reticulum (inferred) 3 3 3 23857568 23882559 - 24128587 24152731 - 23804054 23829071 - 22301074;30032202 100968068 A0A2R9B1Q5 MODEL JARIFH010000004;XM_003826167;XM_034955970;XM_034955972;XM_055109562;XM_055109563;XM_055109564;XM_055109565;XM_057301606;XM_057301607;XM_057301608 XP_003826215;XP_034811863;XP_054965537;XP_054965538;XP_054965539;XP_054965540;XP_057157589;XP_057157590;XP_057157591 A0A2R9B1Q5 NF-kappa-B inhibitor-interacting Ras-like protein 1 protein-coding ENSPPAG00000034931 3 24128587 24146611 - 11678301 CCL5 C-C motif chemokine ligand 5 ENCODES a protein that exhibits chemokine activity (ortholog); heparin binding (ortholog); INVOLVED IN cellular response to alkyl hydroperoxide (ortholog); cellular response to amino acid stimulus (ortholog); cellular response to cytokine stimulus (ortholog); PARTICIPATES IN syndecan signaling pathway; ASSOCIATED WITH acute kidney failure (ortholog); Acute Liver Failure (ortholog); alcoholic hepatitis (ortholog); FOUND IN cytoplasm (ortholog); extracellular space (ortholog) 17 17 17 30476222 30484892 + 21210798 21219172 + 20915198 20923530 + 22301074;30032202 100968258 A0A2R9CSX1 MODEL JARIFH010000018;XM_003817975;XM_008971258 XP_003818023;XP_008969506 A0A2R9CSX1 C-C motif chemokine 5 protein-coding ENSPPAG00000043880 17 21210798 21219172 + 11678314 CYP4F12 cytochrome P450 family 4 subfamily F member 12 ENCODES a protein that exhibits heme binding (inferred); iron ion binding (inferred); metal ion binding (inferred); INVOLVED IN lipid metabolic process (inferred); FOUND IN endoplasmic reticulum membrane (inferred) 19 19 19 19579929 19600920 + 16178495 16199477 + 15195240 15216325 + 22301074 100969491 A0A2R8ZZH0 MODEL JARIFH010000020;XM_008966102 XP_008964350 A0A2R8ZZH0 LOC100969491 cytochrome P450 4F12 APPROVED protein-coding ENSPPAG00000028411 19 16178495 16199477 + 11678331 SERPINI2 serpin family I member 2 ENCODES a protein that exhibits serine-type endopeptidase inhibitor activity (ortholog); ASSOCIATED WITH genetic disease (ortholog); Shwachman-Diamond syndrome (ortholog); FOUND IN extracellular space (inferred) 3 3 3 165336556 165372424 - 172513698 172545458 - 164456089 164491001 - 30032202 100970676 A0A2R9CHD8 MODEL JARIFH010000004;XM_008970942 XP_008969190 A0A2R9CHD8 serpin I2 protein-coding ENSPPAG00000041560 3 172513698 172545458 - 11678349 SEMA6B semaphorin 6B ENCODES a protein that exhibits semaphorin receptor binding (inferred); INVOLVED IN central nervous system development (ortholog); ASSOCIATED WITH amenorrhea (ortholog); autistic disorder (ortholog); cerebellar hypoplasia (ortholog); FOUND IN membrane (inferred) 19 19 19 8166915 8205350 - 4510286 4528178 - 3562673 3600981 - 30032202 100971475 A0A2R9AIM4;A0A2R9AIM9 MODEL JARIFH010000020;XM_034946718;XM_034946719;XM_034946720;XM_034946721 XP_034802611;XP_034802612 A0A2R9AIM4 semaphorin-6B protein-coding ENSPPAG00000031679 11678371 LOC100972997 atos homolog protein B-like 3 3 3 112228034 112229655 - 118289569 118291190 - 111369338 111370959 - 100972997 MODEL JARIFH010000004 APPROVED pseudo 11678372 PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 ENCODES a protein that exhibits flavin adenine dinucleotide binding (inferred); oxidoreductase activity (inferred); INVOLVED IN cellular response to oxidative stress (inferred); ASSOCIATED WITH dilated cardiomyopathy 1O (ortholog); genetic disease (ortholog); hereditary breast ovarian cancer syndrome (ortholog); FOUND IN cytoplasm (inferred); nucleus (inferred); sarcomere (inferred) 12 12 12 75326469 75361224 - 67430708 67463996 - 64826835 64860651 - 22301074 100974290 A0A2R9AJQ0 MODEL JARIFH010000013;XM_003828896;XM_034936189;XM_034936190;XM_055095866 XP_003828944;XP_034792081;XP_054951841 A0A2R9AJQ0 pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 protein-coding ENSPPAG00000030785 12 67430716 67463996 - 11678388 TFCP2L1 transcription factor CP2 like 1 ENCODES a protein that exhibits DNA binding (inferred); DNA-binding transcription factor activity (inferred); RNA polymerase II cis-regulatory region sequence-specific DNA binding (inferred); INVOLVED IN cell morphogenesis (ortholog); cytoplasm organization (ortholog); determination of adult lifespan (ortholog); ASSOCIATED WITH chronic kidney disease (ortholog); genetic disease (ortholog); FOUND IN cytoplasm (inferred); membrane (inferred); nucleus (inferred) 2B 2B 2B 23233304 23301889 - 121729061 121791512 - 8155839 8219017 - 22301074;30032202 100974460 A0A2R8ZYZ5;A0A2R8ZZ10;A0A2R9A1Q1 MODEL JARIFH010000003;XM_003819163 XP_003819211 A0A2R8ZYZ5 transcription factor CP2-like protein 1 protein-coding ENSPPAG00000028120 2B 121729061 121792281 - 11678407 LPAR6 lysophosphatidic acid receptor 6 ENCODES a protein that exhibits G protein-coupled receptor activity (inferred); INVOLVED IN blastocyst hatching (ortholog); ASSOCIATED WITH Autosomal Recessive Woolly Hair (ortholog); chromosome 13q14 deletion syndrome (ortholog); genetic disease (ortholog); FOUND IN membrane (inferred); plasma membrane (inferred) 13 13 13 48511768 48544291 - 48262910 48295264 - 29561219 29567414 - 22301074;30032202 100974511 A0A2R8ZD42 MODEL JARIFH010000014;XM_034936720;XM_055096765;XM_055096766;XM_057299670;XM_057299671;XR_008620624;XR_008620625;XR_008620626;XR_008620627;XR_008954760;XR_008954761 XP_054952740;XP_054952741;XP_057155653;XP_057155654 A0A2R8ZD42 protein-coding ENSPPAG00000006621 13 48263254 48264291 - 11678418 LOC100974591 centromere protein C-like ENCODES a protein that exhibits centromeric DNA binding (inferred); INVOLVED IN kinetochore assembly (inferred); FOUND IN condensed chromosome, centromeric region (inferred); kinetochore (inferred); nucleus (inferred) 12 12 12 97521567 97525692 + 90347452 90350352 + 87026053 87030193 + 30032202 100974591 A0A2R8ZF84 MODEL JARIFH010000013;XM_034936311 XP_034792202 A0A2R8ZF84 centromere protein C pseudogene APPROVED protein-coding ENSPPAG00000014801 11678419 ADAL adenosine deaminase like ENCODES a protein that exhibits deaminase activity (inferred); ASSOCIATED WITH Bloom syndrome (ortholog); colorectal cancer (ortholog); genetic disease (ortholog) 15 15 15 36743736 36767399 + 40451239 40468821 + 22291939 22315830 + 30032202 100976610 A0A2R9BSF2;A0A2R9BXW2 MODEL JARIFH010000016;XM_034938621;XM_034938622;XM_034938623;XM_034938624;XM_034938625;XM_055098353;XM_055098354;XM_055098355;XM_055098356;XM_055098357;XM_055098358;XM_055098359;XM_055098360 XP_034794513;XP_034794515;XP_054954328;XP_054954329;XP_054954330;XP_054954331;XP_054954332;XP_054954333;XP_054954334;XP_054954335 A0A2R9BXW2 adenosine deaminase-like protein-like protein-coding ENSPPAG00000038604 15 40451403 40468241 + 11678433 UMOD uromodulin ENCODES a protein that exhibits calcium ion binding (inferred); IgG binding (inferred); INVOLVED IN apoptotic process (ortholog); apoptotic signaling pathway (ortholog); autophagy (ortholog); ASSOCIATED WITH Autosomal Dominant Tubulointerstitial Kidney Disease 1 (ortholog); chronic kidney disease (ortholog); essential hypertension (ortholog); FOUND IN apical part of cell (ortholog); extracellular space (ortholog) 16 16 16 26115698 26135439 - 20429822 20449266 - 17960456 17980338 + 22301074;30032202 100976884 A0A2R9BIY0 MODEL JARIFH010000017;XM_003830545;XM_003830546;XM_008956004;XM_008956005;XM_055100230;XM_055100231 XP_003830593;XP_054956205;XP_054956206 A0A2R9BIY0 protein-coding ENSPPAG00000037826 16 20430085 20449121 - 11678454 LOC100977658 transmembrane channel-like protein 6 1 1 1 183066086 183069242 + 43561350 43565166 - 42184195 42187524 - 100977658 MODEL JARIFH010000001 transmembrane channel-like protein 6 pseudogene APPROVED pseudo 11678455 POLL DNA polymerase lambda ENCODES a protein that exhibits 5'-deoxyribose-5-phosphate lyase activity (inferred); DNA binding (inferred); DNA polymerase activity (inferred); INVOLVED IN base-excision repair, gap-filling (inferred); DNA biosynthetic process (inferred); DNA damage response (inferred); PARTICIPATES IN non-homologous end joining pathway of double-strand break repair; ASSOCIATED WITH genetic disease (ortholog); split hand-foot malformation (ortholog); FOUND IN site of double-strand break (ortholog) 10 10 10 113470055 113479464 - 101653978 101663378 - 98181049 98190463 - 22301074;30032202 100978076 A0A2R9BE07;A0A2R9BHW8 MODEL JARIFH010000011;XM_003825492;XM_003825494;XM_003825495;XM_008950825;XM_008950827;XM_014346575;XM_034931332;XM_034931333;XM_055093301;XM_055093302;XM_055093303;XM_055093304;XM_055093305;XM_055093306;XM_055093307;XM_057298990 XP_003825540;XP_003825542;XP_003825543;XP_008949073;XP_008949075;XP_034787224;XP_054949276;XP_054949277;XP_054949278;XP_054949279;XP_054949280;XP_054949281;XP_054949282;XP_057154973 A0A2R9BHW8 protein-coding ENSPPAG00000036999 10 101653978 101663360 - 11678494 RGMB repulsive guidance molecule BMP co-receptor b ENCODES a protein that exhibits identical protein binding (ortholog); INVOLVED IN BMP signaling pathway (ortholog); cell adhesion (ortholog); positive regulation of DNA-templated transcription (ortholog); PARTICIPATES IN Bone morphogenetic proteins signaling pathway; ASSOCIATED WITH familial adenomatous polyposis 1 (ortholog); genetic disease (ortholog); Hereditary Neoplastic Syndromes (ortholog); FOUND IN endoplasmic reticulum-Golgi intermediate compartment (ortholog) 5 5 5 92173524 92200986 + 99639059 99661904 + 94080200 94107441 + 30032202 100978381 A0A2R8ZKD7 MODEL JARIFH010000006;XM_034960289;XM_034960290 XP_034816180;XP_034816181 A0A2R8ZKD7 RGM domain family member B;RGM domain family, member B;repulsive guidance molecule B;repulsive guidance molecule family member b APPROVED protein-coding ENSPPAG00000018256 5 99639527 99661904 + 11678501 ZNF135 zinc finger protein 135 ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN cytoskeleton organization (inferred); regulation of cell morphogenesis (inferred); regulation of DNA-templated transcription (inferred); ASSOCIATED WITH genetic disease (ortholog) 19 19 19 66126508 66136997 + 63898314 63908261 + 55071083 55081392 + 30032202 100979250 A0A2R8Z6Z6;A0A2R8Z708;A0A2R8ZAS0;A0A2R8ZD90 MODEL JARIFH010000020;XM_003816644;XM_003816648;XM_008969705;XM_008969706;XM_008969707;XM_008969708;XM_008969709;XM_034945858;XM_034945859;XM_055103946;XM_055103947 XP_003816692;XP_003816696;XP_008967953;XP_008967954;XP_008967955;XP_008967956;XP_008967957;XP_054959921;XP_054959922 A0A2R8ZAS0 LOC100979250 APPROVED protein-coding ENSPPAG00000002156 19 63898314 63908261 + 11678530 ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 ENCODES a protein that exhibits hydrolase activity (inferred); metal ion binding (inferred); metalloendopeptidase activity (inferred); INVOLVED IN collagen fibril organization (ortholog); lung development (ortholog); protein processing (ortholog); ASSOCIATED WITH COVID-19 (ortholog); Ehlers-Danlos syndrome (ortholog); Ehlers-Danlos syndrome dermatosparaxis type (ortholog); FOUND IN collagen-containing extracellular matrix (inferred); extracellular matrix (inferred); extracellular region (inferred) 5 5 5 172182352 172428715 - 181554934 181785167 - 174264811 174502817 - 22301074;30032202 100979430 A0A2R8ZRC1;A0A2R8ZUI2 MODEL JARIFH010000006;XM_034961169;XM_055112897 XP_034817060;XP_054968872 A0A2R8ZRC1 A disintegrin and metalloproteinase with thrombospondin motifs 2 protein-coding ENSPPAG00000026778 5 181557928 181786175 - 11678559 UGP2 UDP-glucose pyrophosphorylase 2 ENCODES a protein that exhibits glucose binding (ortholog); pyrimidine ribonucleotide binding (ortholog); UTP:glucose-1-phosphate uridylyltransferase activity (ortholog); INVOLVED IN glucose 1-phosphate metabolic process (ortholog); UDP-glucose metabolic process (ortholog); PARTICIPATES IN congenital sucrase-isomaltase deficiency pathway; galactokinase deficiency pathway; galactose metabolic pathway; ASSOCIATED WITH Bardet-Biedl syndrome (ortholog); developmental and epileptic encephalopathy 83 (ortholog); genetic disease (ortholog) 2A 2A 2A 62511728 62564161 - 65032218 65084510 + 63906778 63959346 + 22301074;30032202 100980155 A0A2R9BQU5;A0A2R9BQX8;A0A2R9BQY3;A0A2R9BU97;A0A2R9BUC1;A0A2R9BUG7 MODEL JARIFH010000002;XM_003830893;XM_034953259;XM_034953260;XM_034953261;XM_034953262;XM_034953263;XM_034953265 XP_003830941;XP_034809151 A0A2R9BU97 UTP--glucose-1-phosphate uridylyltransferase protein-coding ENSPPAG00000038898 2A 65043871 65084175 + 11678573 NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 ENCODES a protein that exhibits NADH dehydrogenase (ubiquinone) activity (ortholog); INVOLVED IN adult behavior (ortholog); adult walking behavior (ortholog); brain development (ortholog); ASSOCIATED WITH brain disease (ortholog); COVID-19 (ortholog); developmental coordination disorder (ortholog); FOUND IN mitochondrial respiratory chain complex I (ortholog) 5 5 5 58409645 58532287 - 61966124 62088388 - 60344363 60467008 - 22301074;30032202 100980708 A0A2R9AJJ3;A0A2R9ANH0 MODEL JARIFH010000006;XM_003827354;XM_024928894;XM_034960101;XM_055112390;XM_055112391;XM_057302301 XP_003827402;XP_054968365;XP_054968366;XP_057158284 A0A2R9ANH0 NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial protein-coding ENSPPAG00000031693 5 61966124 62088375 - 11678582 LOC100980782 olfactory receptor 52B4 ENCODES a protein that exhibits G protein-coupled receptor activity (inferred); olfactory receptor activity (inferred); INVOLVED IN cognition (inferred); detection of chemical stimulus involved in sensory perception of smell (inferred); G protein-coupled receptor signaling pathway (inferred); FOUND IN membrane (inferred); plasma membrane (inferred) 11 11 11 6814168 6815291 - 4236577 4237688 - 4570482 4571593 - 22301074 100980782 A0A2R8ZG75 MODEL JARIFH010000012;XM_003804658 XP_003804706 A0A2R8ZG75 protein-coding ENSPPAG00000011606 11 4236659 4237603 - 11678587 LOC100981506 protocadherin beta-15 5 5 5 134628928 134632059 + 142715836 142718177 + 136602170 136604569 + 22301074 100981506 MODEL JARIFH010000006;XM_008954535 XP_008952783 PCDHB13 protocadherin beta-3 APPROVED protein-coding 11678594 BFAR bifunctional apoptosis regulator ENCODES a protein that exhibits caspase binding (inferred); metal ion binding (inferred); protein-macromolecule adaptor activity (inferred); INVOLVED IN negative regulation of apoptotic process (ortholog); ASSOCIATED WITH genetic disease (ortholog); FOUND IN endoplasmic reticulum (inferred); membrane (inferred) 16 16 16 18950045 18988139 + 14980618 15018310 + 13558912 13597023 + 22301074;30032202 100985660 A0A2R9B918;A0A2R9BGJ5 MODEL JARIFH010000017;XM_003832683;XM_008958103;XM_034939827;XM_034939828 XP_003832731;XP_008956351;XP_034795718 A0A2R9BGJ5 protein-coding ENSPPAG00000036169 16 14980615 15018310 + 11678613 ARC activity regulated cytoskeleton associated protein ENCODES a protein that exhibits mRNA binding (inferred); INVOLVED IN anterior/posterior pattern specification (ortholog); endoderm development (ortholog); learning (ortholog); ASSOCIATED WITH Alzheimer's disease (ortholog); Cocaine-Related Disorders (ortholog); genetic disease (ortholog); FOUND IN actin cytoskeleton (ortholog); extracellular vesicle (ortholog); glutamatergic synapse (ortholog) 8 8 8 135570636 135574069 - 142365962 142369309 - 139320366 139323802 - 22301074;30032202 100986780 A0A2R8Z9Q0 MODEL JARIFH010000009;XM_003819486 XP_003819534 A0A2R8Z9Q0 protein-coding ENSPPAG00000000502 8 142367995 142369185 - 11678620 LOC100987887 putative pituitary tumor-transforming gene 3 protein INVOLVED IN chromosome organization (inferred); FOUND IN cytoplasm (inferred); cytosol (inferred); nucleus (inferred) 8 8 8 58146926 58148078 - 64974307 64975000 - 63310597 63311485 - 22301074;30032202 100987887 A0A2R9ABT9;A0A2R9AFP4 MODEL JARIFH010000009;XM_003831360 XP_003831408 A0A2R9AFP4 protein-coding ENSPPAG00000030326 11678625 DUSP7 dual specificity phosphatase 7 ENCODES a protein that exhibits hydrolase activity (inferred); MAP kinase tyrosine/serine/threonine phosphatase activity (inferred); myosin phosphatase activity (inferred); INVOLVED IN dephosphorylation (inferred); ASSOCIATED WITH COVID-19 (ortholog); genetic disease (ortholog); FOUND IN cytosol (inferred) 3 3 3 52047955 52055470 - 53219167 53226491 - 51990115 51997627 - 22301074;30032202 100988699 A0A2R9CJY9 MODEL JARIFH010000004;XM_003818772 XP_003818820 A0A2R9CJY9 dual specificity protein phosphatase 7 protein-coding ENSPPAG00000043720 3 53219167 53226491 - 11678632 CFAP57 cilia and flagella associated protein 57 ASSOCIATED WITH Charcot-Marie-Tooth disease dominant intermediate C (ortholog); genetic disease (ortholog); GLUT1 Deficiency Syndrome (ortholog) 1 1 1 182691118 182782092 - 43848111 43933279 + 42470987 42556101 + 22301074 100989096 A0A2R9B388;A0A2R9B725 MODEL JARIFH010000001;XM_008965360;XM_008965362;XM_034962892;XM_034962905;XM_055094335;XM_055094342;XM_055094350;XM_055094357;XM_055094359;XM_055094361;XM_055094362;XM_055094363;XM_055094366;XM_055094367;XM_055094368;XM_055094369;XM_055094370;XM_055094373;XM_055094376;XM_055094379;XM_055094382;XM_055094383 XP_008963608;XP_008963610;XP_034818783;XP_054950310;XP_054950317;XP_054950325;XP_054950332;XP_054950334;XP_054950336;XP_054950337;XP_054950338;XP_054950341;XP_054950342;XP_054950343;XP_054950344;XP_054950345;XP_054950348;XP_054950351;XP_054950354;XP_054950357;XP_054950358 A0A2R9B725 WDR65 WD repeat domain 65;cilia- and flagella-associated protein 57 protein-coding ENSPPAG00000035146 1 43848369 43933279 + 11678663 MARCHF7 membrane associated ring-CH-type finger 7 ENCODES a protein that exhibits enzyme binding (inferred); MDM2/MDM4 family protein binding (inferred); ubiquitin binding (inferred); INVOLVED IN negative regulation of T cell proliferation (ortholog); regulation of tolerance induction (ortholog); ASSOCIATED WITH autistic disorder (ortholog); genetic disease (ortholog); FOUND IN cytosol (inferred); nucleus (inferred); plasma membrane (inferred) 2B 2B 2B 62418484 62474327 + 164377538 164432907 + 47004211 47059901 + 22301074;30032202 100989371 A0A2R8ZUH8;A0A2R8ZUI4;A0A2R8ZVP7 MODEL JARIFH010000003;XM_003820951;XM_008974438;XM_008974440;XM_008974441;XM_008974443;XM_014343992;XM_014343993;XM_024928003;XM_024928004;XM_024928005;XM_024928008;XM_034954366;XM_034954367;XM_034954368;XM_034954369;XM_055108628;XM_055108629;XM_055108630;XM_055108631;XM_055108632;XM_055108633;XM_055108634;XM_055108635;XM_055108636;XM_055108637;XM_055108638;XM_055108639;XM_055108640;XM_055108641;XM_055108642;XM_055108643;XM_055108644;XM_055108645;XM_055108646;XM_055108647;XM_055108648;XM_055108649;XM_055108650;XM_055108651;XM_055108652;XM_055108653;XM_055108654;XM_055108655;XM_055108656;XM_055108657;XM_055108658;XM_055108659;XM_055108660;XM_055108661;XM_055108662;XM_055108663;XM_055108664;XM_055108665;XM_057301419 XP_003820999;XP_008972686;XP_008972688;XP_014199478;XP_014199479;XP_024783771;XP_024783772;XP_024783773;XP_034810258;XP_034810259;XP_034810260;XP_054964603;XP_054964604;XP_054964605;XP_054964606;XP_054964607;XP_054964608;XP_054964609;XP_054964610;XP_054964611;XP_054964612;XP_054964613;XP_054964614;XP_054964615;XP_054964616;XP_054964617;XP_054964618;XP_054964619;XP_054964620;XP_054964621;XP_054964622;XP_054964623;XP_054964624;XP_054964625;XP_054964626;XP_054964627;XP_054964628;XP_054964629;XP_054964630;XP_054964631;XP_054964632;XP_054964633;XP_054964634;XP_054964635;XP_054964636;XP_054964637;XP_054964638;XP_054964639;XP_054964640;XP_057157402 A0A2R8ZUH8 MARCH7 E3 ubiquitin-protein ligase MARCH7;E3 ubiquitin-protein ligase MARCHF7 APPROVED protein-coding ENSPPAG00000027546 2B 164377605 164432907 + 11678702 LOC100989442 putative zinc finger protein 66 19 19 19 24433860 24478841 + 21087815 21118136 + 20003541 20034481 + 22301074;30032202 100989442 MODEL JARIFH010000020;XM_008955513 XP_008953761 protein-coding 11678719 C12H12orf56 chromosome 12 C12orf56 homolog ASSOCIATED WITH genetic disease (ortholog) 12 12 12 29972794 30091736 + 25029679 25144588 + 24529850 24647923 + 100990888 A0A2R9BBF4;A0A2R9BDP6;A0A2R9BDQ7 MODEL JARIFH010000013;XM_003824806;XM_008978444;XM_008978445;XM_034935516 XP_003824854;XP_008976692 A0A2R9BDP6 chromosome 12 open reading frame, human C12orf56;uncharacterized protein C12orf56 homolog APPROVED protein-coding ENSPPAG00000036309 12 25029679 25147432 + 11678742 LOC100992501 6-phosphogluconate dehydrogenase, decarboxylating-like 18 18 18 35036674 35040570 + 28767822 28769265 + 25170975 25172837 + 100992501 MODEL JARIFH010000019 6-phosphogluconate dehydrogenase, decarboxylating pseudogene APPROVED pseudo 11678743 NUDCD1 NudC domain containing 1 ASSOCIATED WITH genetic disease (ortholog); FOUND IN cytoplasm (inferred); cytosol (inferred); nucleoplasm (inferred) 8 8 8 102140805 102231956 - 108038659 108129797 - 105893784 105984995 - 100992787 A0A2R9CE81;A0A2R9CEE5 MODEL JARIFH010000009;XM_003821755;XM_034966489 XP_003821803 A0A2R9CE81 nudC domain-containing protein 1 protein-coding ENSPPAG00000042778 8 108038659 108129797 - 11678770 C2BH2orf76 chromosome 2B C2orf76 homolog ASSOCIATED WITH genetic disease (ortholog) 2B 2B 2B 21304412 21390361 - 119823748 119887540 - 6224278 6309034 - 100994518 A0A2R9C7R6;A0A2R9CI96 MODEL JARIFH010000003;XM_003819138;XM_024927938;XM_024927939;XM_034953937;XM_034953938;XM_034953939;XM_034953940;XM_034953941;XM_057301385;XR_004670081;XR_004670082;XR_004670083;XR_004670084;XR_004670085;XR_004670086;XR_004670087;XR_008624472 XP_003819186;XP_034809828;XP_034809829;XP_034809830;XP_057157368 A0A2R9C7R6 UPF0538 protein C2orf76 homolog;UPF0538 protein C2orf76-like;chromosome 2B open reading frame, human C2orf76 APPROVED protein-coding ENSPPAG00000041702 2B 119823756 119887553 - 11678794 LOC100994951 ficolin-1 ENCODES a protein that exhibits carbohydrate derivative binding (ortholog); G protein-coupled receptor binding (ortholog); pattern recognition receptor activity (ortholog); INVOLVED IN cell surface pattern recognition receptor signaling pathway (ortholog); complement activation, lectin pathway (ortholog); G protein-coupled receptor signaling pathway (ortholog); ASSOCIATED WITH Adams-Oliver Syndrome 5 (ortholog); developmental and epileptic encephalopathy 14 (ortholog); Ehlers-Danlos syndrome classic type 1 (ortholog); FOUND IN plasma membrane (ortholog); serine-type endopeptidase complex (ortholog) 9 9 9 4416291 4424603 + 135040722 135049105 - 106039315 106047648 - 30032202 100994951 A0A2R8ZX36;A0A2R9A2P3 MODEL JARIFH010000010;XM_003816934 XP_003816982 A0A2R8ZX36 FCN1 ficolin 1 APPROVED protein-coding ENSPPAG00000028000 9 135040310 135049111 - 11678807 TMEM50B transmembrane protein 50B ASSOCIATED WITH amyotrophic lateral sclerosis type 1 (ortholog); autosomal dominant intellectual developmental disorder 7 (ortholog); genetic disease (ortholog); FOUND IN endoplasmic reticulum (inferred); membrane (inferred) 21 21 21 24416790 24457312 - 33163876 33219556 - 19789799 19847335 - 30032202 100995106 A0A2R8ZZI6;A0A2R9A3V3 MODEL JARIFH010000022;XM_034947939;XM_055105252;XM_055105253;XM_055105254;XR_004668423 XP_034803830;XP_054961227;XP_054961228;XP_054961229 A0A2R8ZZI6 protein-coding ENSPPAG00000028426 21 33163876 33219556 - 11678829 PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 ENCODES a protein that exhibits 6-phosphofructo-2-kinase activity (inferred); ATP binding (inferred); catalytic activity (inferred); INVOLVED IN fructose 2,6-bisphosphate metabolic process (ortholog); PARTICIPATES IN glycolysis pathway; hypoxia inducible factor pathway; ASSOCIATED WITH Acute Lung Injury (ortholog); Arsenic Poisoning (ortholog); genetic disease (ortholog); FOUND IN nucleoplasm (ortholog) 10 10 10 18703539 18812843 + 6167841 6257263 + 6185415 6294641 + 22301074;30032202 100995244 A0A2R8ZUR8;A0A2R8ZUT3;A0A2R8ZUU5;A0A2R8ZUV5;A0A2R8ZVW9;A0A2R8ZW06;A0A2R8ZY79;A0A2R8ZY94;A0A2R9A0H6;A0A2R9A0J0 MODEL JARIFH010000011;XM_003827796;XM_008953118;XM_008953119;XM_008953120;XM_008953121;XM_024930298;XM_024930299;XM_034929908;XM_034929909;XM_034929910;XM_055092389;XM_055092390;XM_057298804 XP_003827844;XP_008951366;XP_008951368;XP_008951369;XP_024786066;XP_024786067;XP_034785799;XP_034785800;XP_034785801;XP_054948364;XP_054948365;XP_057154787 A0A2R8ZUT3 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 protein-coding ENSPPAG00000027599 10 6167841 6275940 + 11678884 ZNF502 zinc finger protein 502 INVOLVED IN positive regulation by host of viral process (inferred); viral release from host cell (inferred); ASSOCIATED WITH genetic disease (ortholog); FOUND IN nucleus (inferred) 3 3 3 44669390 44680891 + 45665147 45676361 + 44607484 44618977 + 103784593 A0A2R9C377 MODEL JARIFH010000004;XM_008961541;XM_008961543;XM_034956254;XM_057301706 XP_008959789;XP_008959791;XP_057157689 A0A2R9C377 protein-coding ENSPPAG00000040893 3 45665147 45676361 + 11678894 LOC103785481 histone H2B type 2-K1 7 7 7 39640066 39643853 - 154946643 154946990 - 142794724 142798232 - 22301074;30032202 103785481 MODEL JARIFH010000008;XM_008967954 XP_008966202 histone H2B-like;late histone H2B.L4 APPROVED protein-coding 11678904 LOC106633974 40S ribosomal protein S12-like 17 17 17 37683330 37683978 - 28621275 28624034 - 28118972 28119713 - 106633974 MODEL JARIFH010000018 40S ribosomal protein S12 pseudogene APPROVED pseudo 11678911 LOC106635343 aspartate aminotransferase, mitochondrial-like 12 12 12 15129078 15130371 + 9939177 9940470 + 9689666 9690959 + 106635343 MODEL JARIFH010000013 pseudo 11678921 GPR34 G protein-coupled receptor 34 ENCODES a protein that exhibits G protein-coupled receptor activity (inferred); INVOLVED IN G protein-coupled receptor signaling pathway (inferred); signal transduction (inferred); ASSOCIATED WITH autistic disorder (ortholog); genetic disease (ortholog); Neurodevelopmental Disorders (ortholog); FOUND IN membrane (inferred); plasma membrane (inferred) X X X 43338624 43349757 + 41830125 41838336 + 34136375 34145754 + 16338117;22301074;30032202 100967768 Q3SAG9 PROVISIONAL DQ106403;JARIFH010000024;NM_001279200;XM_008968317;XM_008968319;XM_008968320;XM_008968321;XM_034949363;XM_034949364;XM_034949365;XM_057301042 AAZ99232;NP_001266129;Q3SAG9;XP_008966565;XP_008966567;XP_008966568;XP_034805254;XP_034805255;XP_034805256;XP_057157025 Q3SAG9 probable G-protein coupled receptor 34 protein-coding ENSPPAG00000041608 X 41836693 41837838 + 11678941 MINAR1 membrane integral NOTCH2 associated receptor 1 INVOLVED IN negative regulation of neuron projection development (ortholog); ASSOCIATED WITH Bloom syndrome (ortholog); colorectal cancer (ortholog); genetic disease (ortholog); FOUND IN membrane (inferred); plasma membrane (inferred) 15 15 15 72834498 72894854 + 77361433 77402138 + 58402688 58445461 + 30032202 100967851 A0A2R9BX54;A0A2R9BXS2 MODEL JARIFH010000016;XM_003810721;XM_034939256;XM_034939257;XM_055099002;XM_055099003;XM_055099004;XR_610492 XP_003810769;XP_034795147;XP_054954977;XP_054954978;XP_054954979 A0A2R9BXS2 KIAA1024 KIAA1024 ortholog;UPF0258 protein KIAA1024 homolog;major intrinsically disordered Notch2-binding receptor 1 APPROVED protein-coding ENSPPAG00000039983 15 77361433 77402124 + 11678953 LOC100968683 40S ribosomal protein S2-like 11 11 11 25750831 25753611 + 23414517 23417069 + 23509479 23510698 + 100968683 MODEL JARIFH010000012 40S ribosomal protein S2 pseudogene APPROVED pseudo 11678954 LTF lactotransferrin ENCODES a protein that exhibits cysteine-type endopeptidase inhibitor activity (inferred); heparin binding (inferred); hydrolase activity (inferred); INVOLVED IN innate immune response (ortholog); negative regulation of membrane potential (ortholog); ASSOCIATED WITH Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis (ortholog); arthropathy (ortholog); candidiasis (ortholog); FOUND IN cell surface (inferred); cytoplasm (inferred); extracellular region (inferred) 3 3 3 46399619 46428572 - 47442440 47471532 - 46337738 46367476 - 22301074;30032202 100969301 A0A161IL64;A0A2R8ZLP5 MODEL JARIFH010000004;KT006751;XM_003818456;XM_003818457 ANC33010;XP_003818504 A0A161IL64 lactoferrin protein-coding ENSPPAG00000020269 3 47442440 47471532 - 11678978 ERMN ermin ENCODES a protein that exhibits actin binding (inferred); actin filament binding (inferred); INVOLVED IN actin filament organization (ortholog); morphogenesis of a branching structure (ortholog); regulation of cell projection organization (ortholog); ASSOCIATED WITH autism spectrum disorder (ortholog); genetic disease (ortholog); FOUND IN cell cortex (inferred); cytoplasm (inferred); filopodium (inferred) 2B 2B 2B 60004009 60011294 - 161823765 161831104 - 44583336 44590623 - 22301074;30032202 100969517 A0A2R9AT88;A0A2R9AVL7 MODEL JARIFH010000003;XM_008958132 XP_008956380 A0A2R9AT88 protein-coding ENSPPAG00000032661 2B 161823765 161831104 - 11678985 RAB11FIP2 RAB11 family interacting protein 2 ENCODES a protein that exhibits identical protein binding (inferred); protein homodimerization activity (inferred); protein kinase binding (inferred); INVOLVED IN positive regulation of protein localization to plasma membrane (ortholog); PARTICIPATES IN vasopressin signaling pathway; vasopressin signaling pathway via receptor type 2; ASSOCIATED WITH genetic disease (ortholog); FOUND IN endosome (inferred); intracellular membrane-bounded organelle (inferred); membrane (inferred) 10 10 10 129870793 129912003 - 118003025 118044607 - 114577851 114619808 - 30032202 100969819 A0A2R8ZE95;A0A2R8ZKU6 MODEL JARIFH010000011;XM_003825634 XP_003825682 A0A2R8ZKU6 rab11 family-interacting protein 2 protein-coding ENSPPAG00000014110 10 117970693 118044607 - 11678994 RWDD4 RWD domain containing 4 ASSOCIATED WITH genetic disease (ortholog) 4 4 4 181738201 181757569 - 188042054 188058722 - 175816901 175836257 - 22301074 100971172 A0A2R9C991;A0A2R9CC05;A0A2R9CK02 MODEL JARIFH010000005;XM_008977099;XM_034959467;XM_034959468;XM_034959469;XM_034959470;XM_055112035;XM_055112036;XM_055112037;XR_008625276 XP_034815358;XP_034815359;XP_054968010;XP_054968011;XP_054968012 A0A2R9CK02 RWD domain-containing protein 4 protein-coding ENSPPAG00000041963 4 188043841 188058720 - 11679013 TLDC2 TBC/LysM-associated domain containing 2 INVOLVED IN negative regulation of cellular response to oxidative stress (ortholog); ASSOCIATED WITH Aicardi-Goutieres syndrome (ortholog); Aicardi-Goutieres Syndrome 5 (ortholog); Chilblain Lupus 2 (ortholog) 20 20 20 42605235 42618976 + 34321315 34342670 + 33204182 33221160 + 30032202 100972939 A0A2R9APD0 MODEL JARIFH010000021;XM_034947748;XM_034947749;XM_034947750;XM_057300819 XP_057156802 A0A2R9APD0 TLD domain-containing protein 2 protein-coding ENSPPAG00000032778 20 34321315 34342664 + 11679029 LOC100973867 alpha-actinin-4-like 1 1 1 188186411 188201533 - 38388313 38402825 + 37039842 37054484 + 100973867 MODEL JARIFH010000001 pseudo 11679030 TPK1 thiamin pyrophosphokinase 1 ENCODES a protein that exhibits ATP binding (inferred); identical protein binding (inferred); kinase activity (inferred); INVOLVED IN thiamine metabolic process (ortholog); PARTICIPATES IN thiamine metabolic pathway; ASSOCIATED WITH cortical dysplasia-focal epilepsy syndrome (ortholog); genetic disease (ortholog); Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) (ortholog); FOUND IN cytosol (ortholog) 7 7 7 33034876 33414560 - 148653898 149036602 - 136165941 136549606 - 22301074;30032202 100974231 A0A2R9CLA2;A0A2R9CLC7;A0A2R9CLE0;A0A2R9CNH7;A0A2R9CT24 MODEL JARIFH010000008;XM_003820515;XM_008973969;XM_024929695;XM_034965160;XM_034965161;XM_034965162;XM_034965163;XM_034965164;XM_055115484;XM_055115485;XM_055115486 XP_003820563;XP_008972217;XP_034821051;XP_034821054;XP_034821055;XP_054971459;XP_054971460;XP_054971461 A0A2R9CLA2 protein-coding ENSPPAG00000043939 7 148654445 149036342 - 11679046 LOC100974607 olfactory receptor 13C3 ENCODES a protein that exhibits G protein-coupled receptor activity (inferred); olfactory receptor activity (inferred); INVOLVED IN detection of chemical stimulus involved in sensory perception of smell (inferred); G protein-coupled receptor signaling pathway (inferred); sensory perception of smell (inferred); FOUND IN membrane (inferred); plasma membrane (inferred) 9 9 9 34858028 34859132 + 103831699 103832795 - 75703292 75704388 - 22301074 100974607 A0A2R8ZI48 MODEL JARIFH010000010;XM_003809246 XP_003809294 A0A2R8ZI48 protein-coding ENSPPAG00000018616 9 103831718 103832758 - 11679051 LOC100975274 PRAME family member 17-like 1 1 1 101453004 101454412 - 112244470 112245878 - 123285679 123287087 + 100975274 MODEL JARIFH010000001 PRAME family member 17 pseudogene APPROVED pseudo 11679052 TBX20 T-box transcription factor 20 ENCODES a protein that exhibits DNA binding (ortholog); DNA-binding transcription activator activity, RNA polymerase II-specific (ortholog); DNA-binding transcription factor activity (ortholog); INVOLVED IN aortic valve development (ortholog); aortic valve morphogenesis (ortholog); atrial septum morphogenesis (ortholog); ASSOCIATED WITH Animal Disease Models (ortholog); aortic valve disease 1 (ortholog); atrial heart septal defect (ortholog); FOUND IN cytoplasm (ortholog); nucleus (ortholog) 7 7 7 88350337 88401932 - 36089552 36114447 - 35855969 35878533 - 22301074;30032202 100975658 MODEL JARIFH010000008;XM_003833363;XM_055115831 XP_054971806 T-box 20;T-box transcription factor TBX20 APPROVED protein-coding 11679061 LOC100975739 uncharacterized LOC100975739 10 10 10 19132511 19142982 + 6593715 6597569 + 6610538 6621230 + 100975739 MODEL JARIFH010000011;XR_004664501;XR_008619867;XR_608741 ncrna 11679069 KCNJ6 potassium inwardly rectifying channel subfamily J member 6 ENCODES a protein that exhibits G-protein alpha-subunit binding (ortholog); potassium channel activity (ortholog); voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential (ortholog); INVOLVED IN cellular response to morphine (ortholog); response to electrical stimulus (ortholog); thyroid hormone metabolic process (ortholog); ASSOCIATED WITH alcohol use disorder (ortholog); amyotrophic lateral sclerosis type 1 (ortholog); autosomal dominant intellectual developmental disorder 7 (ortholog); FOUND IN axon (ortholog); cell surface (ortholog); dendrite (ortholog) 21 21 21 28581161 28895193 - 37339201 37634876 - 23983485 24284759 - 22301074;30032202 100975815 A0A2R9AN05;A0A2R9ASG2;A0A2R9ASI4;A0A2R9AUX6 MODEL JARIFH010000022;XM_003823940;XM_034948186;XM_034948188;XM_034948189 XP_003823988;XP_034804077 A0A2R9ASG2 G protein-activated inward rectifier potassium channel 2;potassium inwardly-rectifying channel, subfamily J, member 6;potassium voltage-gated channel subfamily J member 6 APPROVED protein-coding ENSPPAG00000032498 21 37340738 37558688 - 11679077 LOC100977002 thioredoxin-like protein 4A 2B 2B 2B 82474765 82475189 + 184770793 184771217 + 67067627 67068051 + 100977002 MODEL JARIFH010000003 thioredoxin-like protein 4A pseudogene APPROVED pseudo 11679078 FITM1 fat storage inducing transmembrane protein 1 ENCODES a protein that exhibits acyl-coenzyme A diphosphatase activity (inferred); diacylglycerol binding (inferred); triglyceride binding (inferred); INVOLVED IN lipid droplet formation (inferred); lipid droplet organization (inferred); lipid storage (inferred); ASSOCIATED WITH Brain-Lung-Thyroid Syndrome (ortholog); genetic disease (ortholog); lysinuric protein intolerance (ortholog); FOUND IN endoplasmic reticulum (inferred); endoplasmic reticulum membrane (inferred); membrane (inferred) 14 14 14 24701536 24704903 + 23031818 23033459 + 4906504 4909119 + 22301074;30032202 100977067 A0A2R9ANF5 MODEL JARIFH010000015;XM_003809085 XP_003809133 A0A2R9ANF5 fat storage-inducing transmembrane protein 1 protein-coding ENSPPAG00000032612 14 23031818 23033459 + 11679092 SLC52A1 solute carrier family 52 member 1 ENCODES a protein that exhibits riboflavin transmembrane transporter activity (inferred); INVOLVED IN riboflavin transport (inferred); ASSOCIATED WITH genetic disease (ortholog); riboflavin deficiency (ortholog); FOUND IN membrane (inferred); plasma membrane (inferred) 17 17 17 14610859 14625669 - 5070372 5073211 - 5081139 5090445 - 22301074;30032202 100979772 A0A2R9BNH2;A0A2R9BPA1 MODEL JARIFH010000018;XM_003810175;XM_003810176;XM_024926287;XM_034941368 XP_003810223 A0A2R9BPA1 solute carrier family 52, riboflavin transporter, member 1 protein-coding ENSPPAG00000038549 17 5070372 5073211 - 11679113 JUN Jun proto-oncogene, AP-1 transcription factor subunit ENCODES a protein that exhibits cAMP response element binding (ortholog); chromatin binding (ortholog); DNA binding (ortholog); INVOLVED IN angiogenesis (ortholog); apoptotic process (ortholog); axon regeneration (ortholog); PARTICIPATES IN adenosine signaling pathway; endothelin signaling pathway; fibroblast growth factor signaling pathway; ASSOCIATED WITH angiosarcoma (ortholog); Asphyxia (ortholog); Brain Injuries (ortholog); FOUND IN chromatin (ortholog); euchromatin (ortholog); nucleoplasm (ortholog) 1 1 1 167218036 167219853 + 59747129 59750446 - 58042794 58045536 - 30032202 100980908 MODEL JARIFH010000001;XM_003824222 XP_003824270 transcription factor AP-1;transcription factor Jun protein-coding 11679118 MINDY2 MINDY lysine 48 deubiquitinase 2 ENCODES a protein that exhibits cysteine-type carboxypeptidase activity (inferred); cysteine-type deubiquitinase activity (inferred); cysteine-type peptidase activity (inferred); INVOLVED IN proteolysis (inferred); ASSOCIATED WITH Bloom syndrome (ortholog); colorectal cancer (ortholog); genetic disease (ortholog); FOUND IN nucleoplasm (inferred) 15 15 15 52214742 52308610 + 56047970 56141490 + 37737665 37831501 + 22301074;30032202 100981159 A0A2R9C0C7 MODEL JARIFH010000016;XM_003827898;XM_008953221;XM_008953222;XM_055098272 XP_003827946;XP_008951469;XP_008951470;XP_054954247 A0A2R9C0C7 FAM63B family with sequence similarity 63 member B;ubiquitin carboxyl-terminal hydrolase MINDY-2 APPROVED protein-coding ENSPPAG00000040407 15 56047970 56134203 + 11679137 ALDH4A1 aldehyde dehydrogenase 4 family member A1 ENCODES a protein that exhibits 1-pyrroline-5-carboxylate dehydrogenase activity (inferred); aldehyde dehydrogenase (NAD+) activity (inferred); identical protein binding (inferred); INVOLVED IN proline catabolic process to glutamate (inferred); proline metabolic process (inferred); PARTICIPATES IN 2-hydroxyglutaric aciduria pathway; AGAT deficiency pathway; arginine and proline metabolic pathway; ASSOCIATED WITH 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (ortholog); autism spectrum disorder (ortholog); chromosome 1p36 deletion syndrome (ortholog); FOUND IN cytosol (inferred); mitochondrion (inferred) 1 1 1 207329575 207360881 + 18878421 18909615 - 17829723 17861008 - 22301074;30032202 100984082 A0A2R8ZAY2;A0A2R8ZAZ1;A0A2R8ZBE8;A0A2R8ZHN8 MODEL JARIFH010000001;XM_003814434 XP_003814482 A0A2R8ZAY2 delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial protein-coding ENSPPAG00000009277 1 18878421 18909615 - 11679156 POLE2 DNA polymerase epsilon 2, accessory subunit ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN DNA replication (inferred); DNA-templated DNA replication (inferred); PARTICIPATES IN nucleotide excision repair pathway; ASSOCIATED WITH Brain-Lung-Thyroid Syndrome (ortholog); genetic disease (ortholog); primary ciliary dyskinesia (ortholog); FOUND IN epsilon DNA polymerase complex (ortholog) 14 14 14 49985800 50032965 - 48531945 48576700 - 30222957 30268455 - 22301074;30032202 100984667 A0A2R9ATT1;A0A2R9AXR8 MODEL JARIFH010000015;XM_003831744;XM_008957116;XM_034937510;XM_034937511 XP_003831792;XP_008955364;XP_034793401;XP_034793402 A0A2R9ATT1 DNA polymerase epsilon subunit 2;polymerase (DNA directed), epsilon 2, accessory subunit protein-coding ENSPPAG00000033486 14 48531945 48576700 - 11679189 CYP19A1 cytochrome P450 family 19 subfamily A member 1 ENCODES a protein that exhibits aromatase activity (ortholog); oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (ortholog); INVOLVED IN adrenal gland development (ortholog); androgen metabolic process (ortholog); bile acid metabolic process (ortholog); PARTICIPATES IN aromatase inhibitor pathway; estradiol biosynthetic pathway; steroid hormone biosynthetic pathway; ASSOCIATED WITH adenocarcinoma (ortholog); Alzheimer's disease (ortholog); amenorrhea (ortholog); FOUND IN axon terminus (ortholog); dendritic spine (ortholog); neuronal cell body (ortholog) 15 15 15 44628633 44758666 - 48486688 48616347 - 30152924 30282854 - 22301074 100984744 A0A2R9A604;A0A2R9A611 MODEL JARIFH010000016;XM_024925627;XM_024925630;XM_024925634;XM_055098469;XM_055098470;XM_055098471 XP_024781395;XP_024781402;XP_054954444;XP_054954445;XP_054954446 A0A2R9A604 LOC100984744 aromatase APPROVED protein-coding ENSPPAG00000029532 15 48486688 48521554 - 11679204 KIDINS220 kinase D interacting substrate 220 ENCODES a protein that exhibits PDZ domain binding (ortholog); protein kinase binding (ortholog); protein kinase regulator activity (ortholog); INVOLVED IN cellular response to nerve growth factor stimulus (ortholog); dendrite morphogenesis (ortholog); in utero embryonic development (ortholog); ASSOCIATED WITH cerebral palsy (ortholog); genetic disease (ortholog); intellectual disability (ortholog); FOUND IN late endosome (ortholog); protein-containing complex (ortholog) 2A 2A 2A 117683363 117799123 + 8894686 9003320 - 8720780 8837136 - 22301074 100985723 A0A2R9C8W7;A0A2R9C908 MODEL JARIFH010000002;XM_034952558;XM_034952560;XM_034952561;XM_034952562;XM_034952563;XM_034952564;XM_034952565;XM_034952566;XM_034952567;XM_034952568;XM_034952569;XM_034952570;XM_034952571;XM_034952572;XM_034952573;XM_034952574;XM_055108270;XM_055108271;XM_055108272;XM_055108273;XM_055108274;XM_055108275;XM_055108276;XM_055108277;XM_055108278;XM_055108279;XM_055108280;XM_055108281;XM_055108282;XM_055108283;XM_055108284;XM_057301352;XR_004669664;XR_004669665;XR_004669668 XP_034808449;XP_034808451;XP_034808453;XP_034808454;XP_034808455;XP_034808456;XP_034808461;XP_034808462;XP_034808463;XP_054964245;XP_054964246;XP_054964247;XP_054964248;XP_054964249;XP_054964250;XP_054964251;XP_054964252;XP_054964253;XP_054964254;XP_054964255;XP_054964256;XP_054964257;XP_054964258;XP_054964259;XP_057157335 A0A2R9C908 LOC112438889 kinase D-interacting substrate 220kDa;kinase D-interacting substrate of 220 kDa;uncharacterized LOC112438889 PROVISIONAL protein-coding ENSPPAG00000041858 2A 8892960 8992777 - 11679237 PODN podocan ENCODES a protein that exhibits collagen binding (inferred); INVOLVED IN negative regulation of cell migration (inferred); negative regulation of cell population proliferation (inferred); ASSOCIATED WITH genetic disease (ortholog); prostate cancer (ortholog); FOUND IN cytoplasm (inferred); extracellular space (inferred) 1 1 1 172893374 172916722 - 53936781 53958710 + 52334363 52358127 + 22301074;30032202 100986206 A0A2R8ZZ95;A0A2R9A3P1;A0A2R9A3P4 MODEL JARIFH010000001;XM_008967892;XM_008967893;XM_034965442;XM_034965447 XP_034821333 A0A2R8ZZ95 protein-coding ENSPPAG00000028170 1 53940073 53955393 + 11679255 CCDC88A coiled-coil domain containing 88A ENCODES a protein that exhibits G-protein gamma-subunit binding (ortholog); microtubule binding (ortholog); protein serine/threonine kinase activator activity (ortholog); INVOLVED IN positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (ortholog); regulation of cell population proliferation (ortholog); regulation of neuron projection development (ortholog); ASSOCIATED WITH genetic disease (ortholog); microcephaly (ortholog); PEHO syndrome (ortholog); FOUND IN cell leading edge (ortholog); COPI-coated Golgi to ER transport vesicle (ortholog) 2A 2A 2A 70910212 71042397 + 56585354 56716197 - 55445060 55576479 - 22301074;30032202 100986313 A0A2R9BUN4;A0A2R9BUP4;A0A2R9BVA2;A0A2R9BVA8;A0A2R9BY42 MODEL JARIFH010000002;XM_003830842;XM_034953169;XM_034953170;XM_034953171;XM_034953172;XM_034953173;XM_034953174;XM_034953175;XM_034953176;XM_034953178;XM_055107922;XM_055107923;XM_055107924;XM_055107925;XM_055107926;XM_055107927;XM_055107928 XP_003830890;XP_034809060;XP_034809061;XP_034809062;XP_034809063;XP_034809064;XP_034809065;XP_034809066;XP_034809067;XP_034809069;XP_054963897;XP_054963898;XP_054963899;XP_054963900;XP_054963901;XP_054963902;XP_054963903 A0A2R9BUN4 girdin protein-coding ENSPPAG00000039357 2A 56589221 56715362 - 11679292 LOC100987123 zinc finger protein 595 ENCODES a protein that exhibits cis-regulatory region sequence-specific DNA binding (ortholog); sequence-specific DNA binding (ortholog); INVOLVED IN negative regulation of DNA-templated transcription (ortholog); negative regulation of transcription by RNA polymerase II (ortholog); regulation of DNA methylation (ortholog); ASSOCIATED WITH genetic disease (ortholog); Genetic Predisposition to Disease (ortholog); Lung Neoplasms (ortholog) 4 4 4 275759 330720 + 76364 117079 + 50243 92219 + 30032202 100987123 MODEL JARIFH010000005;XM_008961729;XM_034958084;XR_008625027;XR_008625028;XR_008625029 XP_008959977;XP_034813975 LOC117979889;ZNF595 uncharacterized LOC117979889 APPROVED protein-coding 11679300 JMY junction mediating and regulatory protein, p53 cofactor ENCODES a protein that exhibits transcription coactivator activity (ortholog); INVOLVED IN 'de novo' actin filament nucleation (ortholog); actin polymerization-dependent cell motility (ortholog); Arp2/3 complex-mediated actin nucleation (ortholog); ASSOCIATED WITH genetic disease (ortholog); Neurodevelopmental Disorders (ortholog); FOUND IN nucleus (ortholog) 5 5 5 34126198 34224480 - 36251080 36567564 - 35981666 36076428 - 22301074;30032202 100987239 A0A2R9BJF5 MODEL JARIFH010000006;XM_024928820;XM_024928821 XP_024784588;XP_024784589 A0A2R9BJF5 LOC100987239 PROVISIONAL protein-coding ENSPPAG00000037761 5 36261971 36567349 - 11679309 NASP nuclear autoantigenic sperm protein ENCODES a protein that exhibits histone chaperone activity (ortholog); protein-containing complex binding (ortholog); INVOLVED IN blastocyst development (ortholog); DNA replication-dependent chromatin assembly (ortholog); G1/S transition of mitotic cell cycle (ortholog); PARTICIPATES IN histone modification pathway; ASSOCIATED WITH Charcot-Marie-Tooth disease dominant intermediate C (ortholog); developmental and epileptic encephalopathy (ortholog); early infantile epileptic encephalopathy (ortholog); FOUND IN cytoplasm (ortholog) 1 1 1 180333490 180369914 - 46242482 46278736 + 44885433 44920159 + 30032202 100987867 A0A2R9AQ29;A0A2R9AQM8;A0A2R9AUM1;A0A2R9AUM6 MODEL JARIFH010000001;XM_003812759;XM_008965236;XM_034963909;XM_034963916;XM_034963920 XP_003812807;XP_008963484;XP_034819800;XP_034819807;XP_034819811 A0A2R9AUM1 LOC100969104;LOC100979960;LOC106635033 nuclear autoantigenic sperm protein pseudogene;nuclear autoantigenic sperm protein-like PROVISIONAL protein-coding ENSPPAG00000032932 1 46242841 46278737 + 11679332 LOC100988774 protocadherin beta-7 ENCODES a protein that exhibits calcium ion binding (inferred); INVOLVED IN cell adhesion (inferred); homophilic cell adhesion via plasma membrane adhesion molecules (inferred); nervous system development (inferred); ASSOCIATED WITH autosomal dominant intellectual developmental disorder 31 (ortholog); familial adenomatous polyposis 1 (ortholog); genetic disease (ortholog); FOUND IN membrane (inferred); plasma membrane (inferred) 5 5 5 134564126 134571248 + 142649582 142652437 + 136526139 136538754 + 22301074 100988774 A0A2R8ZGQ6 MODEL JARIFH010000006;XM_003829142 XP_003829190 A0A2R8ZGQ6 PCDHB7 protocadherin beta 7 APPROVED protein-coding ENSPPAG00000017091 5 142649791 142652172 + 11679337 POLK DNA polymerase kappa ENCODES a protein that exhibits molecular adaptor activity (ortholog); INVOLVED IN DNA repair (ortholog); PARTICIPATES IN nucleotide excision repair pathway; ASSOCIATED WITH autosomal dominant intellectual developmental disorder 34 (ortholog); epilepsy (ortholog); genetic disease (ortholog); FOUND IN site of DNA damage (ortholog) 5 5 5 37855476 37944159 - 40313114 40365841 - 39700659 39788727 - 22301074;30032202 100989542 A0A2R8ZQG2;A0A2R8ZQG6;A0A2R8ZRM2;A0A2R8ZRM7;A0A2R8ZTK6;A0A2R8ZW94 MODEL JARIFH010000006;XM_024928759;XM_034959931;XM_034959932;XM_034959933;XM_055112285;XM_055112286;XM_055112287;XM_055112288;XM_055112289;XM_055112290;XM_055112291;XM_055112292;XM_055112293;XM_055112294;XM_055112295;XM_055112296;XM_055112297;XM_055112298;XM_055112299;XM_055112300;XM_055112301;XM_055112302;XM_055112303;XM_055112304;XM_055112305;XM_055112306;XM_055112307;XM_055112308;XM_055112309;XM_055112310 XP_024784527;XP_034815822;XP_034815823;XP_034815824;XP_054968260;XP_054968261;XP_054968262;XP_054968263;XP_054968264;XP_054968265;XP_054968266;XP_054968267;XP_054968268;XP_054968269;XP_054968270;XP_054968271;XP_054968272;XP_054968273;XP_054968274;XP_054968275;XP_054968276;XP_054968277;XP_054968278;XP_054968279;XP_054968280;XP_054968281;XP_054968282;XP_054968283;XP_054968284;XP_054968285 A0A2R8ZRM7 protein-coding ENSPPAG00000026238 5 40311526 40401003 - 11679365 FEZ2 fasciculation and elongation protein zeta 2 INVOLVED IN negative regulation of autophagosome assembly (inferred); ASSOCIATED WITH genetic disease (ortholog); Myocardial Ischemia (ortholog); Weight Gain (ortholog) 2A 2A 2A 89883152 89929788 + 37344067 37390521 - 36581436 36628054 - 30032202 100990276 A0A2R9C151;A0A2R9C1L5;A0A2R9C451 MODEL JARIFH010000002;XM_008970905;XM_034952926;XM_034952928;XM_034952929;XR_004669783 XP_008969153;XP_034808817;XP_034808819;XP_034808820 A0A2R9C1L5 fasciculation and elongation protein zeta-2 protein-coding ENSPPAG00000040604 2A 37344973 37390525 - 11679377 SERPINA11 serpin family A member 11 ENCODES a protein that exhibits serine-type endopeptidase inhibitor activity (inferred); ASSOCIATED WITH DICER1 syndrome (ortholog); genetic disease (ortholog); Hydrops Fetalis (ortholog); FOUND IN extracellular space (inferred) 14 14 14 94807440 94818271 - 94398596 94408909 - 75065755 75076662 - 30032202 100991379 A0A2R9BAT4 MODEL JARIFH010000015;XM_008958253 XP_008956501 A0A2R9BAT4 serpin A11 protein-coding ENSPPAG00000036447 14 94398596 94408909 - 11679386 LOC100992123 T-complex protein 1 subunit zeta-like 3 3 3 188586351 188587946 + 196288986 196290581 + 187735716 187737311 + 100992123 MODEL JARIFH010000004 T-complex protein 1 subunit zeta pseudogene APPROVED pseudo 11679387 F8 coagulation factor VIII ENCODES a protein that exhibits copper ion binding (inferred); oxidoreductase activity (inferred); INVOLVED IN blood coagulation, intrinsic pathway (ortholog); PARTICIPATES IN acenocoumarol pharmacodynamics pathway; alteplase pharmacodynamics pathway; aminocaproic acid pharmacodynamics pathway; ASSOCIATED WITH adrenoleukodystrophy (ortholog); autistic disorder (ortholog); autoimmune disease (ortholog); FOUND IN extracellular space (ortholog) X X X 154820124 155004186 - 154156864 154345635 - 144316192 144505773 - 22301074 100992135 A0A2R9ATE1;A0A2R9ATQ4;A0A2R9AXP1 MODEL JARIFH010000024;XM_003809957;XM_008962334;XM_034950301;XM_034950302 XP_003810005;XP_008960582 A0A2R9ATQ4 protein-coding ENSPPAG00000033513 X 154156873 154341317 - 11679423 KIF20A kinesin family member 20A ENCODES a protein that exhibits ATP binding (inferred); cytoskeletal motor activity (inferred); microtubule binding (inferred); INVOLVED IN microtubule bundle formation (inferred); microtubule-based movement (inferred); midbody abscission (inferred); ASSOCIATED WITH autosomal dominant intellectual developmental disorder 31 (ortholog); COVID-19 (ortholog); familial adenomatous polyposis 1 (ortholog); FOUND IN cytoplasm (inferred); cytoskeleton (inferred); intercellular bridge (inferred) 5 5 5 131591982 131601019 + 139690512 139699446 + 133557456 133566089 + 22301074;30032202 100992491 A0A2R8Z7U8;A0A2R8Z7U9 MODEL JARIFH010000006;XM_008954604 XP_008952852 A0A2R8Z7U8 kinesin-like protein KIF20A protein-coding ENSPPAG00000003703 5 139690517 139699446 + 11679446 MSH5 mutS homolog 5 ENCODES a protein that exhibits ATP binding (inferred); ATP-dependent DNA damage sensor activity (inferred); DNA binding (inferred); INVOLVED IN female gamete generation (ortholog); homologous chromosome pairing at meiosis (ortholog); meiosis I (ortholog); ASSOCIATED WITH azoospermia (ortholog); genetic disease (ortholog); hepatocellular carcinoma (ortholog); FOUND IN synaptonemal complex (ortholog) 6 6 6 42178711 42201176 + 32289318 32313411 + 31401343 31424665 + 22301074;30032202 100995053 A0A2R9BYA4;A0A2R9C8B0 MODEL JARIFH010000007;XM_008956893;XM_034961773;XM_034961774;XM_055113436;XM_055113437;XM_055113438;XM_055113439;XM_055113440 XP_008955141;XP_054969411;XP_054969412;XP_054969413;XP_054969414;XP_054969415 A0A2R9BYA4 mutS protein homolog 5 protein-coding ENSPPAG00000040149 6 32290511 32311085 + 11679492 ARHGEF28 Rho guanine nucleotide exchange factor 28 ENCODES a protein that exhibits guanyl-nucleotide exchange factor activity (inferred); metal ion binding (inferred); INVOLVED IN central nervous system neuron axonogenesis (ortholog); neurofilament cytoskeleton organization (ortholog); ASSOCIATED WITH genetic disease (ortholog); Neurodevelopmental Disorders (ortholog) 5 5 5 39531655 39845848 - 41976692 42289389 - 41376631 41690868 - 22301074;30032202 100995133 A0A2R8ZV92;A0A2R8ZVA3;A0A2R8ZWH2;A0A2R8ZYR3 MODEL JARIFH010000006;XM_008962831;XM_034959953;XM_034959954;XM_034959955;XM_034959956;XM_055112317 XP_008961079;XP_034815844;XP_054968292 A0A2R8ZV92 protein-coding ENSPPAG00000027640 5 41976692 42231634 - 11679536 RNF39 ring finger protein 39 ENCODES a protein that exhibits metal ion binding (inferred); ASSOCIATED WITH cholangiocarcinoma (ortholog); Experimental Liver Cirrhosis (ortholog); genetic disease (ortholog); FOUND IN cytoplasm (inferred) 6 6 6 40626537 40632281 - 30518327 30523597 - 29848055 29853659 - 22301074 100995496 A0A2R9CIP9 MODEL JARIFH010000007;XM_024929075 XP_024784843 A0A2R9CIP9 protein-coding ENSPPAG00000041758 11679544 LOC103784311 elongation factor 1-delta-like ENCODES a protein that exhibits translation elongation factor activity (inferred); INVOLVED IN translation (inferred); translational elongation (inferred) 9 9 9 46589683 46590366 + 92031174 92033118 - 63963235 63982318 - 22301074;30032202 103784311 A0A2R9A4A2 MODEL JARIFH010000010;XM_055091777;XR_609923 XP_054947752 A0A2R9A4A2 protein-coding ENSPPAG00000028490 11679547 LOC103784368 T cell receptor alpha variable 38-2/delta variable 8-like 14 14 14 22942870 22944531 + 21219629 21454651 + 3115600 3352487 + 103784368 MODEL JARIFH010000015;XR_609988 uncharacterized LOC103784368 APPROVED gene 11679572 LOC106634556 60S ribosomal protein L24-like 3 3 3 23098646 23102233 + 23363790 23372987 + 23045003 23054197 + 106634556 MODEL JARIFH010000004 60S ribosomal protein L24 pseudogene APPROVED pseudo 11679582 UBR2 ubiquitin protein ligase E3 component n-recognin 2 ENCODES a protein that exhibits histone ubiquitin ligase activity (inferred); leucine binding (inferred); metal ion binding (inferred); INVOLVED IN male meiosis I (ortholog); spermatogenesis (ortholog); ubiquitin-dependent protein catabolic process (ortholog); ASSOCIATED WITH genetic disease (ortholog); infantile Refsum disease (ortholog); Zellweger syndrome (ortholog); FOUND IN chromatin (inferred); ubiquitin ligase complex (inferred) 6 6 6 52928203 53058177 + 43449154 43579224 + 42150409 42282486 + 22301074;30032202 100968356 A0A2R8ZZY8;A0A2R9A119 MODEL JARIFH010000007;XM_003833292;XM_008958781;XM_008958782;XM_008958783;XM_034962101;XM_055113610;XM_055113611;XR_004671978;XR_008625617 XP_003833340;XP_008957029;XP_008957031;XP_034817992;XP_054969585;XP_054969586 A0A2R9A119 E3 ubiquitin-protein ligase UBR2 protein-coding ENSPPAG00000028429 6 43449154 43579224 + 11679644 CDC42BPB CDC42 binding protein kinase beta ENCODES a protein that exhibits protein serine/threonine kinase activity (ortholog); small GTPase binding (ortholog); INVOLVED IN actin cytoskeleton organization (ortholog); protein phosphorylation (ortholog); ASSOCIATED WITH autism spectrum disorder (ortholog); Charcot-Marie-Tooth disease axonal type 2O (ortholog); CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (ortholog); FOUND IN actomyosin (inferred); cell projection (inferred); cytoplasm (inferred) 14 14 14 103301174 103429186 - 103367060 103447382 - 83551870 83679888 - 22301074;30032202 100968397 A0A2R9CHV9;A0A2R9CHX8;A0A2R9CKK4 MODEL JARIFH010000015;XM_034938203;XM_034938204;XM_034938205;XM_034938206;XR_004666344 XP_034794094;XP_034794095;XP_034794096;XP_034794097 A0A2R9CHV9 serine/threonine-protein kinase MRCK beta protein-coding ENSPPAG00000043371 14 103367060 103451989 - 11679684 ERG ETS transcription factor ERG ENCODES a protein that exhibits chromatin binding (inferred); DNA binding (inferred); DNA-binding transcription activator activity, RNA polymerase II-specific (inferred); INVOLVED IN cell migration (ortholog); endocardial cushion development (ortholog); endocardial cushion to mesenchymal transition involved in heart valve formation (ortholog); ASSOCIATED WITH acute lymphoblastic leukemia (ortholog); acute myeloid leukemia (ortholog); epilepsy (ortholog); FOUND IN cytosol (inferred); nucleoplasm (inferred); nucleus (inferred) 21 21 21 29346968 29624485 - 38087333 38366637 - 24737829 25016378 - 22301074;30032202 100969805 A0A2R9ACP1;A0A2R9ACP5;A0A2R9ACU8;A0A2R9ACY2;A0A2R9ADU3;A0A2R9ADU8;A0A2R9AHQ3;A0A2R9AHQ8 MODEL JARIFH010000022;XM_003823922;XM_003823924;XM_008977636;XM_034947822;XM_034947824;XM_034947825 XP_003823970;XP_008975884;XP_034803713 A0A2R9AHQ3 ERG, ETS transcription factor;transcriptional regulator ERG;v-ets erythroblastosis virus E26 oncogene homolog APPROVED protein-coding ENSPPAG00000030567 21 38087339 38281403 - 11679704 PCED1A PC-esterase domain containing 1A ENCODES a protein that exhibits transferase activity (inferred); ASSOCIATED WITH genetic disease (ortholog); Huntington's disease-like 1 (ortholog); pantothenate kinase-associated neurodegeneration (ortholog) 20 20 20 3804040 3809859 - 2689947 2695331 - 2926265 2932094 - 100970334 A0A2R9BBS1 MODEL JARIFH010000021;XM_003821293;XM_008974756;XM_034946991;XM_034946992 XP_003821341;XP_034802882 A0A2R9BBS1 PC-esterase domain-containing protein 1A protein-coding ENSPPAG00000035453 20 2689947 2695331 - 11679718 MMP17 matrix metallopeptidase 17 ENCODES a protein that exhibits hydrolase activity (inferred); metal ion binding (inferred); metalloendopeptidase activity (inferred); INVOLVED IN drinking behavior (ortholog); kidney development (ortholog); ASSOCIATED WITH genetic disease (ortholog); FOUND IN extracellular matrix (inferred) 12 12 12 139914706 139940301 + 133922882 133936152 + 129481501 129505696 + 22301074;30032202 100970412 A0A2R9A9E6 MODEL JARIFH010000013;XM_034934863 XP_034790754 A0A2R9A9E6 matrix metalloproteinase-17 protein-coding ENSPPAG00000029938 12 133922882 133936152 + 11679731 UNC5A unc-5 netrin receptor A ENCODES a protein that exhibits netrin receptor activity (ortholog); INVOLVED IN anterior/posterior axon guidance (ortholog); axon guidance (ortholog); neuron projection development (ortholog); ASSOCIATED WITH Chromosome 5, Trisomy 5q (ortholog); Ehlers-Danlos syndrome dermatosparaxis type (ortholog); Ehlers-Danlos syndrome spondylodysplastic type 2 (ortholog); FOUND IN neuron projection membrane (ortholog); neuronal cell body membrane (ortholog) 5 5 5 170032382 170103735 + 179170309 179248377 + 172110396 172181839 + 22301074;30032202 100971723 A0A2R9B9I6;A0A2R9BBV9;A0A2R9BFI2 MODEL JARIFH010000006;XM_034961039;XM_034961040;XM_034961041;XM_034961042 XP_034816930;XP_034816931;XP_034816932;XP_034816933 A0A2R9BFI2 netrin receptor UNC5A;unc-5 homolog A protein-coding ENSPPAG00000036000 5 179181251 179248377 + 11679752 LOC100972417 ferritin heavy chain-like 11 11 11 79715177 79718037 - 76438902 76439685 - 72798261 72801079 - 100972417 MODEL JARIFH010000012 ferritin heavy chain pseudogene APPROVED pseudo 11679753 PTGR2 prostaglandin reductase 2 ENCODES a protein that exhibits zinc ion binding (ortholog); INVOLVED IN monocarboxylic acid metabolic process (inferred); prostaglandin metabolic process (inferred); ASSOCIATED WITH genetic disease (ortholog); intellectual disability (ortholog); primary ciliary dyskinesia 16 (ortholog); FOUND IN cytoplasm (inferred) 14 14 14 74158124 74191783 + 73266484 73299378 + 54410939 54444595 + 22301074;30032202 100972632 A0A2R9CMX4;A0A2R9CMX5 MODEL JARIFH010000015;XM_008977884;XM_008977885;XM_008977886;XM_008977887;XM_034937807;XM_034937808;XM_034937809;XM_034937810;XM_055097848;XM_055097849;XM_057299757 XP_008976132;XP_008976133;XP_008976134;XP_008976135;XP_034793698;XP_034793700;XP_054953823;XP_054953824;XP_057155740 A0A2R9CMX5 protein-coding ENSPPAG00000043789 14 73266502 73299378 + 11679778 C19H19orf12 chromosome 19 C19orf12 homolog INVOLVED IN apoptotic process (inferred); autophagy (inferred); mitochondrial calcium ion homeostasis (inferred); ASSOCIATED WITH Developmental Disabilities (ortholog); dystonia (ortholog); genetic disease (ortholog); FOUND IN cytosol (inferred); endoplasmic reticulum (inferred); mitochondrial membrane (inferred) 19 19 19 37676242 37692626 - 35385878 35401969 - 26626994 26643372 - 100972704 A0A2R9A8G0;A0A2R9A8G4;A0A2R9A8G7;A0A2R9A9I7;A0A2R9A9K8;A0A2R9ADT2 MODEL JARIFH010000020;XM_003816222;XM_003816225;XM_008969280;XM_008969281;XM_014342636;XM_034945983;XM_034945984;XM_055104392;XM_055104393 XP_003816270;XP_003816273;XP_008967528;XP_008967529;XP_014198122;XP_034801874;XP_054960367;XP_054960368 A0A2R9A8G0 chromosome 19 open reading frame, human C19orf12;protein C19orf12-like APPROVED protein-coding ENSPPAG00000029958 19 35385884 35401408 - 11679805 NFKBIA NFKB inhibitor alpha ENCODES a protein that exhibits enzyme binding (ortholog); heat shock protein binding (ortholog); identical protein binding (ortholog); INVOLVED IN canonical NF-kappaB signal transduction (ortholog); cellular response to cytokine stimulus (ortholog); cellular response to organic cyclic compound (ortholog); PARTICIPATES IN adenosine signaling pathway; ceramide signaling pathway; interleukin-23 signaling pathway; ASSOCIATED WITH acute necrotizing pancreatitis (ortholog); Adenoviridae Infections (ortholog); alcoholic hepatitis (ortholog); FOUND IN cytoplasm (ortholog); plasma membrane (ortholog); protein-containing complex (ortholog) 14 14 14 35932430 35936014 - 34337307 34340225 - 16155331 16158588 - 22301074 100972867 A0A2R9C899;A0A2R9CB43;A0A2R9CIZ5;A0A2R9CJ08;A1YFX8 MODEL DQ977173;JARIFH010000015;XM_024925474 ABM54203;XP_024781242 A0A2R9CIZ5 NF-kappa-B inhibitor alpha protein-coding ENSPPAG00000041784 11679818 TSPAN11 tetraspanin 11 ASSOCIATED WITH genetic disease (ortholog); FOUND IN membrane (inferred) 12 12 12 65782194 65855580 - 57914874 57957465 - 55283377 55358044 - 22301074;30032202 100973028 A0A2R9CKF2;A0A2R9CKG8 MODEL JARIFH010000013;XM_034936094;XM_034936095;XM_034936096;XM_034936097 XP_034791986 A0A2R9CKG8 tetraspanin-11 protein-coding ENSPPAG00000043801 12 57919656 57985438 - 11679831 LIG4 DNA ligase 4 ENCODES a protein that exhibits ATP binding (ortholog); DNA binding (ortholog); DNA ligase (ATP) activity (ortholog); INVOLVED IN cellular response to lithium ion (ortholog); central nervous system development (ortholog); chromosome organization (ortholog); PARTICIPATES IN non-homologous end joining pathway of double-strand break repair; ASSOCIATED WITH Anal Atresia, Hypospadias, and Penoscrotal Inversion (ortholog); colorectal cancer (ortholog); DNA ligase IV deficiency (ortholog); FOUND IN nucleus (ortholog) 13 13 13 108374564 108385554 - 108474718 108485421 - 89336434 89347418 - 22301074;30032202 100973637 A0A2R9AQY6 MODEL JARIFH010000014;XM_003832075;XM_014347492;XM_034936966;XM_034936967;XM_034936968;XM_034936969;XM_034936970;XM_055096988;XM_055096989;XM_055096990;XM_055096991;XM_055096992;XM_055096993;XM_055096994;XM_055096995;XM_055096996;XM_055096997;XM_055096998;XM_057299615 XP_003832123;XP_014202978;XP_034792857;XP_034792858;XP_034792860;XP_054952963;XP_054952964;XP_054952965;XP_054952966;XP_054952967;XP_054952968;XP_054952969;XP_054952970;XP_054952971;XP_054952972;XP_054952973;XP_057155598 A0A2R9AQY6 protein-coding ENSPPAG00000032998 13 108475820 108478555 - 11679855 MAST2 microtubule associated serine/threonine kinase 2 ENCODES a protein that exhibits microtubule binding (ortholog); INVOLVED IN regulation of interleukin-12 production (ortholog); spermatid differentiation (ortholog); ASSOCIATED WITH amenorrhea (ortholog); Charcot-Marie-Tooth disease dominant intermediate C (ortholog); developmental and epileptic encephalopathy (ortholog); FOUND IN microtubule cytoskeleton (ortholog) 1 1 1 179911130 180151035 - 46461462 46696110 + 45105098 45341903 + 22301074;30032202 100974294 A0A2R9BXY0;A0A2R9BXZ0 MODEL JARIFH010000001;XM_008965226;XM_008965227;XM_008965228;XM_034964012;XM_055093573 XP_008963474;XP_008963475;XP_008963476;XP_034819903;XP_054949548 A0A2R9BXY0 LOC100974626 60S ribosomal protein L6-like;microtubule-associated serine/threonine-protein kinase 2 PROVISIONAL protein-coding ENSPPAG00000039968 1 46461456 46696053 + 11679901 CPXCR1 CPX chromosome region candidate 1 ASSOCIATED WITH autistic disorder (ortholog); genetic disease (ortholog); syndromic X-linked intellectual disability Lubs type (ortholog) X X X 88189724 88197875 + 87873523 87881071 + 77782925 77790478 + 100974703 A0A2R8ZM97 MODEL JARIFH010000024;XM_003824445;XM_003824446 XP_003824493;XP_003824494 A0A2R8ZM97 CPX chromosome region, candidate 1 APPROVED protein-coding ENSPPAG00000016441 X 87879705 87880610 + 11679912 PTGER4 prostaglandin E receptor 4 ENCODES a protein that exhibits prostaglandin E receptor activity (ortholog); INVOLVED IN bone development (ortholog); cellular response to glucose stimulus (ortholog); cellular response to interleukin-1 (ortholog); ASSOCIATED WITH acute kidney failure (ortholog); Alzheimer's disease (ortholog); ankylosing spondylitis (ortholog); FOUND IN neuron projection terminus (ortholog); neuronal cell body (ortholog); nuclear membrane (ortholog) 5 5 5 67797598 67810852 - 74731470 74745121 - 69686906 69700739 - 22301074;30032202 100975287 A0A2R9A7J0 MODEL JARIFH010000006;XM_003810968;XM_055112421;XM_055112422;XM_055112423;XM_055112424 XP_054968396;XP_054968397;XP_054968398;XP_054968399 A0A2R9A7J0 prostaglandin E2 receptor EP4 subtype protein-coding ENSPPAG00000029600 5 74731470 74745148 - 11679919 MBNL1 muscleblind like splicing regulator 1 ENCODES a protein that exhibits regulatory region RNA binding (ortholog); INVOLVED IN alternative mRNA splicing, via spliceosome (ortholog); embryonic limb morphogenesis (ortholog); in utero embryonic development (ortholog); PARTICIPATES IN spliceosome pathway; ASSOCIATED WITH Familial Prostate Cancer (ortholog); genetic disease (ortholog); Myotonia (ortholog); FOUND IN cytoplasm (inferred); cytoplasmic stress granule (inferred); cytosol (inferred) 3 3 3 150164008 150362863 + 156858039 157057239 + 149288323 149487635 + 22301074 100976397 A0A2R9AGJ7;A0A2R9AGN3;A0A2R9AHK5;A0A2R9AHL3;A0A2R9ALD1;A0A2R9ALE9;A0A2R9ALG2;A0A2R9ANE7;A0A2R9ANG2 MODEL JARIFH010000004;XM_003826451;XM_003826452;XM_003826453;XM_008951855;XM_008951856;XM_008951857;XM_008951861;XM_034957615;XM_034957616;XM_034957617;XM_034957618;XM_034957619;XM_034957621;XM_034957622;XM_034957623;XM_034957624;XM_034957625;XM_034957626;XM_034957627;XM_034957628;XM_034957629;XM_034957631;XM_034957632;XM_055110605;XM_055110606;XM_057301944;XM_057301945;XM_057301946;XM_057301947;XM_057301948;XM_057301949;XM_057301950;XR_004670777;XR_004670778;XR_004670779;XR_008624914 XP_003826499;XP_003826500;XP_008950103;XP_008950104;XP_008950105;XP_034813506;XP_034813508;XP_034813510;XP_034813514;XP_034813517;XP_034813519;XP_054966580;XP_054966581;XP_057157927;XP_057157928;XP_057157929;XP_057157930;XP_057157931;XP_057157932;XP_057157933 A0A2R9AGJ7 muscleblind-like protein 1 protein-coding ENSPPAG00000031243 3 156888763 157054207 + 11679962 PECAM1 platelet and endothelial cell adhesion molecule 1 ENCODES a protein that exhibits protein phosphatase binding (ortholog); INVOLVED IN angiogenesis (ortholog); cell adhesion (ortholog); cellular response to organic cyclic compound (ortholog); ASSOCIATED WITH Acute Coronary Syndrome (ortholog); Acute Lung Injury (ortholog); atherosclerosis (ortholog); FOUND IN cell periphery (ortholog); cell surface (ortholog); cell-cell contact zone (ortholog) 17 17 17 85327260 85436138 - 63511784 63601241 - 58417134 58526409 - 100977201 A0A2R8ZJX2 MODEL JARIFH010000018;XM_003811365;XM_008963781;XM_014342194;XM_034942725;XM_034942726;XM_034942727;XM_055100899 XP_008962029;XP_014197680;XP_034798616;XP_034798617;XP_034798618;XP_054956874 A0A2R8ZJX2 platelet endothelial cell adhesion molecule protein-coding ENSPPAG00000017648 17 63511784 63579067 - 11679988 PLAAT3 phospholipase A and acyltransferase 3 ENCODES a protein that exhibits acyltransferase activity (ortholog); lipid binding (ortholog); INVOLVED IN localization (ortholog); negative regulation of cell cycle (ortholog); response to bacterium (ortholog); ASSOCIATED WITH Breast Neoplasms (ortholog); genetic disease (ortholog); intellectual disability (ortholog); FOUND IN cytosol (inferred); endoplasmic reticulum (inferred); lysosome (inferred) 11 11 11 65842365 65886139 - 62282487 62322729 - 58931593 58971269 - 30032202 100977983 A0A2R9BPN4;A0A2R9BPP5;A0A2R9BPQ3 MODEL JARIFH010000012;XM_008953928;XM_034932827;XM_055094435 XP_008952176;XP_054950410 A0A2R9BPP5 PLA2G16 HRAS-like suppressor 3;phospholipase A2 group XVI APPROVED protein-coding ENSPPAG00000038739 11 62282487 62322736 - 11679997 KIAA1671 KIAA1671 ortholog ASSOCIATED WITH genetic disease (ortholog) 22 22 22 37549681 37794945 + 23633734 23817378 + 5907062 6152632 + 100979345 A0A2R9CFE1;A0A2R9CFK7;A0A2R9CI38 MODEL JARIFH010000023;XM_034948910;XM_055105444;XM_055105445;XM_055105446;XM_055105447;XM_055105448 XP_034804801;XP_054961419;XP_054961420;XP_054961421;XP_054961422;XP_054961423 A0A2R9CFK7 uncharacterized protein KIAA1671 homolog protein-coding ENSPPAG00000042972 22 23648362 23817378 + 11680014 LOC100980981 Krueppel-like factor 8 16 16 16 64088384 64089444 + 47877678 47878738 + 28988922 28989982 + 100980981 MODEL JARIFH010000017 Krueppel-like factor 8 pseudogene APPROVED pseudo 11680015 EML5 EMAP like 5 ASSOCIATED WITH Bardet-Biedl syndrome (ortholog); genetic disease (ortholog); Leber congenital amaurosis 3 (ortholog) 14 14 14 88978644 89159447 - 88590141 88772323 - 69233075 69416483 - 30032202 100982646 A0A2R8ZZL2;A0A2R9A3W4;A0A2R9A564 MODEL JARIFH010000015;XM_008958160;XM_014347688;XM_024925389;XM_024925394;XM_024925396;XM_034937969;XM_034937970;XM_034937971;XM_034937972;XM_034937973;XM_034937974;XM_034937975;XM_055097930;XM_055097931;XM_055097932;XM_055097933;XM_055097934;XR_004666270;XR_008620952;XR_008620953;XR_008620954 XP_008956408;XP_014203174;XP_034793863;XP_034793865;XP_034793866;XP_054953905;XP_054953906;XP_054953907;XP_054953908;XP_054953909 A0A2R8ZZL2 echinoderm microtubule associated protein like 5;echinoderm microtubule-associated protein-like 5 APPROVED protein-coding ENSPPAG00000028408 14 88590141 88774705 - 11680064 ABAT 4-aminobutyrate aminotransferase ENCODES a protein that exhibits 4-aminobutyrate transaminase activity (ortholog); protein homodimerization activity (ortholog); succinate-semialdehyde dehydrogenase binding (ortholog); INVOLVED IN cerebellum development (ortholog); copulation (ortholog); exploration behavior (ortholog); PARTICIPATES IN 2-hydroxyglutaric aciduria pathway; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency pathway; 3-hydroxyisobutyric aciduria pathway; ASSOCIATED WITH Abnormal Reflexes (ortholog); Alzheimer's disease (ortholog); Anorexia (ortholog); FOUND IN mitochondrial matrix (ortholog) 16 16 16 12999815 13108612 + 8850010 8958420 + 7609282 7718049 + 22301074;30032202 100983021 A0A2R8Z656;A0A2R8Z657;A0A2R8Z661 MODEL JARIFH010000017;XM_003808307;XM_003808308;XM_008960387;XM_008960388;XM_055099495;XM_055099496;XM_055099497;XM_055099498;XM_057300002 XP_003808355;XP_003808356;XP_008958635;XP_008958636;XP_054955470;XP_054955471;XP_054955472;XP_054955473;XP_057155985 A0A2R8Z657 4-aminobutyrate aminotransferase, mitochondrial protein-coding ENSPPAG00000000292 16 8888178 8958420 + 11680105 MAOA monoamine oxidase A ENCODES a protein that exhibits flavin adenine dinucleotide binding (ortholog); primary amine oxidase activity (ortholog); serotonin binding (ortholog); INVOLVED IN dopamine catabolic process (ortholog); phenylethylamine metabolic process (ortholog); positive regulation of signal transduction (ortholog); PARTICIPATES IN alkaptonuria pathway; citalopram pharmacodynamics pathway; citalopram pharmacokinetics pathway; ASSOCIATED WITH alcohol use disorder (ortholog); Alzheimer's disease (ortholog); antisocial personality disorder (ortholog); FOUND IN mitochondrial outer membrane (ortholog) X X X 45307374 45400324 + 43931198 44022199 + 36106680 36197907 + 22301074 100985360 A0A2R9AQU7;A0A2R9ARD5;Q5ULA2;Q5ULA8 MODEL AY615800;AY684851;AY684859;JARIFH010000024;XM_003808376 AAV34706;AAV34712;XP_003808424 A0A2R9ARD5 amine oxidase [flavin-containing] A protein-coding ENSPPAG00000033045 X 43931044 44022199 + 11680124 MAP7D2 MAP7 domain containing 2 INVOLVED IN microtubule cytoskeleton organization (inferred); ASSOCIATED WITH autistic disorder (ortholog); Coffin-Lowry syndrome (ortholog); developmental and epileptic encephalopathy 2 (ortholog); FOUND IN microtubule cytoskeleton (inferred) X X X 21806381 21917800 - 19985121 20096303 - 12624994 12736318 - 22301074;30032202 100985790 A0A2R9C2M0;A0A2R9C360;A0A2R9C5N1;A0A2R9C5N7 MODEL JARIFH010000024;XM_034950627;XM_034950628;XM_034950629;XM_034950630;XM_034950631;XM_034950632;XM_034950633;XM_034950634;XM_034950635;XM_034950636;XM_055106101 XP_034806518;XP_034806519;XP_034806520;XP_034806521;XP_034806522;XP_034806525;XP_034806526;XP_054962076 A0A2R9C2M0 MAP7 domain-containing protein 2 protein-coding ENSPPAG00000040804 X 19989048 20096192 - 11680146 MSMO1 methylsterol monooxygenase 1 ENCODES a protein that exhibits iron ion binding (inferred); oxidoreductase activity (inferred); INVOLVED IN lipid biosynthetic process (inferred); PARTICIPATES IN alendronate pharmacodynamics pathway; cholesterol biosynthetic pathway; cholesterol ester storage disease pathway; ASSOCIATED WITH genetic disease (ortholog); Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis (ortholog); FOUND IN membrane (inferred) 4 4 4 163430124 163450181 + 169606760 169622218 + 157523099 157538508 + 22301074;30032202 100986460 A0A2R9BHI5 MODEL JARIFH010000005;XM_003804997;XM_003804998;XM_008966101;XM_034959374 XP_003805045;XP_003805046;XP_008964349;XP_034815265 A0A2R9BHI5 protein-coding ENSPPAG00000037413 4 169606809 169622212 + 11680167 LOC100987752 actin alpha cardiac muscle 1 ENCODES a protein that exhibits ATP binding (inferred); identical protein binding (inferred); kinesin binding (inferred); INVOLVED IN actin-mediated cell contraction (ortholog); actomyosin structure organization (ortholog); cardiac muscle contraction (ortholog); ASSOCIATED WITH atrial heart septal defect (ortholog); atrial heart septal defect 5 (ortholog); Bloom syndrome (ortholog); FOUND IN glutamatergic synapse (ortholog); I band (ortholog); synapse (ortholog) 15 15 15 28151250 28162184 - 31966278 31971782 - 13707475 13712905 - 30032202 100987752 A0A2R9A7P2;A0A2R9A8N7;A0A2R9BGB5 MODEL JARIFH010000016;XM_003812134 XP_003812182 A0A2R9A8N7;A0A2R9BGB5 ACTC1 actin, alpha cardiac muscle 1;actin, alpha, cardiac muscle 1 APPROVED protein-coding ENSPPAG00000029795;ENSPPAG00000037371 15 31966278 31971782 - 11680181 MEI1 meiotic double-stranded break formation protein 1 INVOLVED IN gamete generation (ortholog); male meiosis I (ortholog); meiotic cell cycle (ortholog); ASSOCIATED WITH adenylosuccinase lyase deficiency (ortholog); common variable immunodeficiency 4 (ortholog); genetic disease (ortholog) 22 22 22 54218136 54328797 + 40678001 40777076 + 22592508 22692370 + 30032202 100988889 A0A2R9A4G4;A0A2R9A8N8 MODEL JARIFH010000023;XM_003814635 XP_003814683 A0A2R9A4G4 meiosis inhibitor 1;meiosis inhibitor protein 1 protein-coding ENSPPAG00000029081 22 40678001 40777076 + 11680216 NEFH neurofilament heavy chain ENCODES a protein that exhibits protein kinase binding (ortholog); protein-containing complex binding (ortholog); protein-macromolecule adaptor activity (ortholog); INVOLVED IN axon regeneration (ortholog); cellular response to estradiol stimulus (ortholog); cellular response to hydroperoxide (ortholog); ASSOCIATED WITH amyotrophic lateral sclerosis (ortholog); amyotrophic lateral sclerosis type 1 (ortholog); Anti-N-Methyl-D-Aspartate Receptor Encephalitis (ortholog); FOUND IN apical dendrite (ortholog); axon (ortholog); basal proximal dendrite (ortholog) 22 22 22 42155232 42166273 + 28331778 28341874 + 10525738 10536788 + 30032202 100988988 A0A2R9BXB3 MODEL JARIFH010000023;XM_034948930 XP_034804821 A0A2R9BXB3 neurofilament heavy;neurofilament heavy polypeptide APPROVED protein-coding ENSPPAG00000039424 11680225 SLC4A1 solute carrier family 4 member 1 (Diego blood group) ENCODES a protein that exhibits actin binding (ortholog); enzyme binding (ortholog); protein-containing complex binding (ortholog); INVOLVED IN bicarbonate transport (ortholog); blood coagulation (ortholog); circadian rhythm (ortholog); ASSOCIATED WITH abetalipoproteinemia (ortholog); ACANTHOCYTOSIS (ortholog); Alkalosis (ortholog); FOUND IN basolateral plasma membrane (ortholog); cell surface (ortholog); intercalated disc (ortholog) 17 17 17 22612307 22627663 + 13302796 13317312 + 13131851 13150872 + 22301074;30032202 100989276 A0A2R9BP13;A0A2R9BP37;A0A2R9BY36;A0A2R9BY47;H9LGJ6 MODEL HM065568;JARIFH010000018;XM_003805872;XM_008976146;XM_008976161 AEB80397;XP_003805920 A0A2R9BY36 solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) protein-coding ENSPPAG00000038599 17 13302796 13317312 + 11680254 PRELP proline and arginine rich end leucine rich repeat protein ENCODES a protein that exhibits heparin binding (ortholog); INVOLVED IN cellular senescence (ortholog); ASSOCIATED WITH familial adult myoclonic epilepsy 5 (ortholog); gastrointestinal stromal tumor (ortholog); genetic disease (ortholog) 1 1 1 45854053 45868942 - 183372022 183386626 + 179077892 179092796 + 22301074;30032202 100990076 A0A2R9APH9 MODEL JARIFH010000001;XM_003822987;XM_008976602 XP_003823035;XP_008974850 A0A2R9APH9 prolargin protein-coding ENSPPAG00000031486 1 183372028 183386619 + 11680264 LOC100990157 putative olfactory receptor 52L2 ENCODES a protein that exhibits G protein-coupled receptor activity (inferred); olfactory receptor activity (inferred); INVOLVED IN detection of chemical stimulus involved in sensory perception of smell (inferred); G protein-coupled receptor signaling pathway (inferred); signal transduction (inferred); FOUND IN membrane (inferred) 11 11 11 8458720 8459709 - 5872958 5873947 - 6190569 6191558 - 22301074 100990157 A0A2R9BGZ2 MODEL JARIFH010000012;XM_008972441 XP_008970689 A0A2R9BGZ2 protein-coding ENSPPAG00000036208 11680267 LOC100990610 cytochrome c oxidase assembly factor 7 ASSOCIATED WITH genetic disease (ortholog); spinocerebellar ataxia with axonal neuropathy type 3 (ortholog); FOUND IN mitochondrial intermembrane space (inferred); mitochondrion (inferred); nucleoplasm (inferred) 1 1 1 173292751 173304662 + 53554945 53566488 - 51946060 51960364 - 22301074;30032202 100990610 A0A2R9BW25 MODEL JARIFH010000001;XM_003815030 XP_003815078 A0A2R9BW25 SELRC1 Sel1 repeat containing 1 protein-coding ENSPPAG00000039694 1 53554945 53566489 - 11680274 PLD3 phospholipase D family member 3 ENCODES a protein that exhibits phospholipase D activity (ortholog); INVOLVED IN DNA metabolic process (inferred); myotube differentiation (inferred); regulation of cytokine production involved in inflammatory response (inferred); ASSOCIATED WITH Alzheimer's disease 19 (ortholog); Carpenter Syndrome 2 (ortholog); Charcot-Marie-Tooth disease (ortholog); FOUND IN early endosome membrane (inferred); endoplasmic reticulum membrane (inferred); Golgi membrane (inferred) 19 19 19 48481721 48513247 + 45910035 45939343 + 37396475 37426425 + 22301074 100990699 A0A2R8ZHK7 MODEL JARIFH010000020;XM_008964918;XM_008964921;XM_008964922;XM_034944622;XM_034944623;XM_055103215;XM_055103216;XM_055103217;XM_055103219;XM_055103220;XM_055103221;XM_055103222;XM_057300553 XP_008963166;XP_008963169;XP_008963170;XP_034800513;XP_054959190;XP_054959191;XP_054959192;XP_054959194;XP_054959195;XP_054959196;XP_054959197;XP_057156536 A0A2R8ZHK7 5'-3' exonuclease PLD3;phospholipase D3 protein-coding ENSPPAG00000018772 19 45910035 45939343 + 11680312 ETFRF1 electron transfer flavoprotein regulatory factor 1 INVOLVED IN respiratory electron transport chain (inferred); ASSOCIATED WITH genetic disease (ortholog); FOUND IN mitochondrion (inferred) 12 12 12 71608194 71617290 - 63724570 63733659 - 61108760 61117849 - 22301074;30032202 100991581 A0A2R9BVR7;A0A2R9BZ50 MODEL JARIFH010000013;XM_003828867;XM_008954302 XP_003828915;XP_008952550 A0A2R9BVR7 LYR motif-containing protein 5 protein-coding ENSPPAG00000039750 12 63720327 63733659 - 11680322 LOC100992041 caspase-12-like 11 11 11 106783810 106800504 - 103325099 103333355 - 99842205 99858868 - 22301074;30032202 100992041 MODEL JARIFH010000012;XM_034933606;XM_034933607;XR_004665230;XR_004665231 XP_034789497;XP_034789498 caspase-4-like APPROVED protein-coding 11680323 LOC100992144 sulfotransferase 1A2 ENCODES a protein that exhibits aryl sulfotransferase activity (inferred); flavonol 3-sulfotransferase activity (inferred); sulfotransferase activity (inferred); INVOLVED IN 3'-phosphoadenosine 5'-phosphosulfate metabolic process (inferred); ethanol catabolic process (inferred); phenol-containing compound metabolic process (inferred) 16 16 34888450 34897267 + 29068659 29086259 - 22301074;30032202 100992144 A0A2R9B285 MODEL JARIFH010000017;XM_003811140;XM_008963504;XM_014341723;XM_055099617 XP_003811188;XP_054955592 A0A2R9B285 sulfotransferase 1A1 APPROVED protein-coding ENSPPAG00000034744 16 29068659 29077360 - 11680340 LOC100994409 protein L-Myc-like X X X 59416248 59417112 - 58413654 58414518 - 50253000 50253864 - 100994409 MODEL JARIFH010000024 APPROVED pseudo 11680341 RGS13 regulator of G protein signaling 13 INVOLVED IN G protein-coupled receptor signaling pathway (ortholog); negative regulation of G protein-coupled receptor signaling pathway (ortholog); ASSOCIATED WITH gastrointestinal stromal tumor (ortholog); genetic disease (ortholog); Hyperparathyroidism 1 (ortholog); FOUND IN cytosol (inferred); nucleus (inferred); plasma membrane (inferred) 1 1 1 56791844 56815911 - 172395240 172419307 + 168073338 168124215 + 100994752 A0A2R9CGM8 MODEL JARIFH010000001;XM_003820593;XM_003820594;XM_034942777;XM_057301865 XP_034798668;XP_057157848 A0A2R9CGM8 regulator of G-protein signaling 13 APPROVED protein-coding ENSPPAG00000043188 1 172395240 172419307 + 11680353 ZFAND5 zinc finger AN1-type containing 5 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); zinc ion binding (inferred); INVOLVED IN face development (ortholog); fibroblast migration (ortholog); in utero embryonic development (ortholog); ASSOCIATED WITH genetic disease (ortholog); Prostatic Neoplasms (ortholog) 9 9 9 71550804 71561625 - 71144900 71154993 - 52446788 52457527 + 22301074 100995779 A0A2R8ZV85;A0A2R8ZYL6 MODEL JARIFH010000010;XM_008975747;XM_034967561 XP_008973995;XP_034823452 A0A2R8ZYL6 AN1-type zinc finger protein 5 protein-coding ENSPPAG00000027676 9 71144900 71154869 - 11680379 LOC103786855 charged multivesicular body protein 5-like 1 1 1 45533302 45537632 + 183698644 183699491 - 179409285 179410348 - 103786855 MODEL JARIFH010000001;XM_034944323 charged multivesicular body protein 5 pseudogene APPROVED pseudo 11680380 LOC103786905 ESF1 homolog 8 8 8 45333887 45337656 + 47774878 47778419 + 50398523 50400964 + 103786905 MODEL JARIFH010000009 pseudo 11680381 LOC106634988 uncharacterized LOC106634988 7 7 7 167576777 167582608 + 106682177 106684147 + 93443230 93445246 + 106634988 MODEL JARIFH010000008;XR_001338340 LOC100972076 uncharacterized LOC100972076 PROVISIONAL ncrna 11680399 CYP2C8 cytochrome P450 family 2 subfamily C member 8 ENCODES a protein that exhibits arachidonic acid 14,15-epoxygenase activity (ortholog); arachidonic acid epoxygenase activity (ortholog); caffeine oxidase activity (ortholog); INVOLVED IN arachidonic acid metabolic process (ortholog); epoxygenase P450 pathway (ortholog); estrogen metabolic process (ortholog); PARTICIPATES IN acetylsalicylic acid pharmacodynamics pathway; antipyrine drug pathway; arachidonic acid metabolic pathway; ASSOCIATED WITH acute lymphoblastic leukemia (ortholog); autism spectrum disorder (ortholog); chronic obstructive pulmonary disease (ortholog); FOUND IN intracellular membrane-bounded organelle (ortholog); plasma membrane (ortholog) 10 10 10 106944739 107134357 - 95153512 95186716 - 91646387 91679998 - 22301074;30032202 100967379 A0A2R9C194;A0A2R9CBE9 MODEL JARIFH010000011;XM_003825388;XM_034931134;XM_055093168 XP_003825436;XP_034787025;XP_054949143 A0A2R9C194 LOC100967379 cytochrome P450 2C8 APPROVED protein-coding ENSPPAG00000040639 10 95157661 95186620 - 11680416 UNC93A unc-93 homolog A ASSOCIATED WITH genetic disease (ortholog); FOUND IN membrane (inferred); plasma membrane (inferred) 6 6 6 185416087 185440675 + 170256537 170280251 + 165158007 165181841 - 100967912 A0A2R9B521;A0A2R9B7J3 MODEL JARIFH010000007;XM_003820214;XM_008973612;XM_055114437 XP_003820262;XP_054970412 A0A2R9B7J3 unc-93 homolog A (C. elegans) APPROVED protein-coding ENSPPAG00000034812 6 170256712 170279696 + 11680434 LOC100968907 ATP-binding cassette sub-family B member 10, mitochondrial-like 15 15 15 10555476 10559548 + 25789176 25791166 - 1542919 1545608 + 100968907 MODEL JARIFH010000016 ATP-binding cassette sub-family B member 10, mitochondrial pseudogene APPROVED pseudo 11680435 HCAR2 hydroxycarboxylic acid receptor 2 ENCODES a protein that exhibits nicotinic acid receptor activity (ortholog); INVOLVED IN negative regulation of lipid catabolic process (ortholog); neutrophil apoptotic process (ortholog); positive regulation of adiponectin secretion (ortholog); ASSOCIATED WITH Flushing (ortholog); genetic disease (ortholog); psoriasis (ortholog); FOUND IN plasma membrane (ortholog) 12 12 12 130791022 130796501 - 124512812 124523387 - 120305297 120308463 - 22301074 100969904 A0A2R8ZLY5;A0A4Y1JWN5 MODEL JARIFH010000013;KU285443;XM_034934721 APT70325;XP_034790612 LOC100969904 APPROVED protein-coding 11680440 PSMG4 proteasome assembly chaperone 4 ENCODES a protein that exhibits protein-containing complex binding (ortholog); ASSOCIATED WITH genetic disease (ortholog); FOUND IN protein-containing complex (ortholog) 6 6 6 13894419 13903563 + 3286677 3295747 + 3097462 3106866 + 22301074;30032202 100971938 MODEL JARIFH010000007;XM_003806700;XM_003806701 XP_003806748;XP_003806749 protein-coding 11680449 LOC100972710 small integral membrane protein 10-like protein 2A ASSOCIATED WITH genetic disease (ortholog) 7 7 7 59646792 59666352 + 6524029 6541367 - 7094057 7113596 + 100972710 A0A2R9CAC8;A0A2R9CAK2 MODEL JARIFH010000008;XM_003832948;XM_008958399 XP_003832996;XP_008956647 A0A2R9CAK2 FAM220A;LOC112436705 family with sequence similarity 220 member A;salivary gland specific protein SAGSIN1 APPROVED protein-coding ENSPPAG00000042160 11680458 LOC100973558 uncharacterized LOC100973558 X X X 17479159 17507963 + 15584644 15614037 + 8303130 8331948 + 100973558 MODEL JARIFH010000024;XM_034950485 XP_034806376 uncharacterized protein LOC100973558 APPROVED protein-coding 11680488 DHFR dihydrofolate reductase ENCODES a protein that exhibits dihydrofolate reductase activity (ortholog); dihydrofolic acid binding (ortholog); NADP binding (ortholog); INVOLVED IN axon regeneration (ortholog); dihydrofolate metabolic process (ortholog); folic acid metabolic process (ortholog); PARTICIPATES IN altered folate cycle metabolic pathway; dopa responsive dystonia pathway; folate cycle metabolic pathway; ASSOCIATED WITH acute lymphoblastic leukemia (ortholog); autistic disorder (ortholog); Breast Neoplasms (ortholog); FOUND IN nucleus (ortholog) 5 5 5 32806994 32835542 + 34938548 34967003 + 34663210 34689467 + 22301074;30032202 100973672 A0A2R8ZTA3;A0A2R8ZWL7 MODEL JARIFH010000006;XM_003822267;XM_008975788 XP_003822315;XP_008974036 A0A2R8ZTA3 protein-coding ENSPPAG00000027338 5 34938548 34967003 + 11680509 LOC100977118 NADH-cytochrome b5 reductase-like ENCODES a protein that exhibits cytochrome-b5 reductase activity, acting on NAD(P)H (inferred); oxidoreductase activity (inferred); ASSOCIATED WITH genetic disease (ortholog); FOUND IN endoplasmic reticulum membrane (inferred); nucleoplasm (inferred) 1 1 1 171775030 171803617 + 55042138 55069550 - 53442480 53476136 - 22301074;30032202 100977118 A0A2R8ZU47;A0A2R8ZW54 MODEL JARIFH010000001;XM_003814997;XM_024928148;XM_024928159;XM_024928169;XM_034965715;XM_034965718;XM_034965740;XM_034965748;XM_055092363;XM_055092371;XR_004672828 XP_003815045;XP_054948338;XP_054948346 A0A2R8ZW54 protein-coding ENSPPAG00000027279 1 55042138 55065899 - 11680527 SLC2A10 solute carrier family 2 member 10 ENCODES a protein that exhibits D-glucose transmembrane transporter activity (inferred); dehydroascorbic acid transmembrane transporter activity (inferred); transmembrane transporter activity (inferred); INVOLVED IN artery development (ortholog); cell redox homeostasis (ortholog); embryonic skeletal joint development (ortholog); ASSOCIATED WITH arterial tortuosity syndrome (ortholog); bicuspid aortic valve disease (ortholog); Breast Neoplasms (ortholog); FOUND IN plasma membrane (ortholog) 20 20 20 52439932 52464480 + 44128837 44153154 + 43043801 43068304 + 22301074 100978426 A0A2R8ZIT9;A0A2R8ZQ09 MODEL JARIFH010000021;XM_003826011;XM_034947080 XP_003826059 A0A2R8ZIT9 solute carrier family 2, facilitated glucose transporter member 10 protein-coding ENSPPAG00000020440 20 44128837 44153148 + 11680536 ANK3 ankyrin 3 ENCODES a protein that exhibits cadherin binding (ortholog); cytoskeletal protein binding (ortholog); phosphorylation-dependent protein binding (ortholog); INVOLVED IN anterograde axonal transport (ortholog); axon development (ortholog); axon guidance (ortholog); ASSOCIATED WITH autistic disorder (ortholog); autosomal recessive intellectual developmental disorder 37 (ortholog); autosomal recessive intellectual developmental disorder 66 (ortholog); FOUND IN axon (ortholog); axon initial segment (ortholog); bicellular tight junction (ortholog) 10 10 10 72243612 72953138 - 58774451 59136990 - 56560589 57269952 - 22301074;30032202 100978708 A0A2R9BX47;A0A2R9BXQ5;A0A2R9BXR4;A0A2R9BXS8;A0A2R9BXU8;A0A2R9BXW1;A0A2R9BXW8;A0A2R9C0I2;A0A2R9C6S6 MODEL JARIFH010000011;XM_003821182;XM_034930608;XM_034930609;XM_034930610;XM_034930611;XM_034930612;XM_034930613;XM_034930615;XM_034930616;XM_034930617;XM_034930618;XM_034930619;XM_034930620;XM_034930621;XM_034930622;XM_034930623;XM_055092829;XM_055092830;XM_055092831;XM_055092832;XM_055092833;XM_055092834;XM_055092835;XM_055092836;XM_055092837;XM_055092838;XM_055092839;XM_055092840;XM_055092841;XM_055092842;XM_055092843;XM_055092844;XM_055092845;XM_055092846;XM_055092847;XM_055092848;XM_055092849;XM_055092850;XM_055092851;XM_057298898;XM_057298899 XP_003821230;XP_034786510;XP_034786512;XP_034786514;XP_054948804;XP_054948805;XP_054948806;XP_054948807;XP_054948808;XP_054948809;XP_054948810;XP_054948811;XP_054948812;XP_054948813;XP_054948814;XP_054948815;XP_054948816;XP_054948817;XP_054948818;XP_054948819;XP_054948820;XP_054948821;XP_054948822;XP_054948823;XP_054948824;XP_054948825;XP_054948826;XP_057154881;XP_057154882 A0A2R9BXS8 ankyrin-3 protein-coding ENSPPAG00000039668 10 58790696 59602954 - 11680584 KCNC3 potassium voltage-gated channel subfamily C member 3 ENCODES a protein that exhibits voltage-gated potassium channel activity (ortholog); INVOLVED IN corpus callosum development (ortholog); optic nerve development (ortholog); potassium ion transmembrane transport (ortholog); ASSOCIATED WITH genetic disease (ortholog); spinocerebellar ataxia type 13 (ortholog); FOUND IN axolemma (ortholog); axon terminus (ortholog); dendrite membrane (ortholog) 19 19 19 58298616 58315820 - 56180048 56200789 - 47275213 47296809 - 22301074;30032202 100979004 MODEL JARIFH010000020;XM_034945403;XM_034945404;XM_034945405;XM_034945406;XR_004667873;XR_008622051 XP_034801294;XP_034801295;XP_034801296;XP_034801297 potassium voltage-gated channel, Shaw-related subfamily, member 3 protein-coding 11680591 ZFP91 ZFP91 zinc finger protein, atypical E3 ubiquitin ligase ENCODES a protein that exhibits ubiquitin-protein transferase activity (inferred); INVOLVED IN protein K63-linked ubiquitination (inferred); ASSOCIATED WITH acute myeloid leukemia (ortholog); genetic disease (ortholog); Hypothermia (ortholog); FOUND IN nucleolus (inferred); nucleoplasm (inferred) 11 11 11 60769592 60812083 + 57294324 57336369 + 53833437 53875435 + 30032202 100980702 A0A2R8ZAS9;A0A2R8ZAT9 MODEL JARIFH010000012;XM_008951805;XM_034932662 XP_008950053;XP_034788553 A0A2R8ZAS9 E3 ubiquitin-protein ligase ZFP91;zinc finger protein 91 homolog APPROVED protein-coding ENSPPAG00000009518 11 57294678 57333088 + 11680606 AK5 adenylate kinase 5 ENCODES a protein that exhibits adenylate kinase activity (inferred); ATP binding (inferred); kinase activity (inferred); INVOLVED IN ATP metabolic process (inferred); nucleobase-containing compound metabolic process (inferred); nucleoside monophosphate phosphorylation (inferred); PARTICIPATES IN de novo purine biosynthetic pathway; ASSOCIATED WITH amphetamine abuse (ortholog); genetic disease (ortholog); FOUND IN centriolar satellite (inferred); cytoplasm (inferred); cytosol (inferred) 1 1 1 148492330 148772160 - 78584653 78863844 + 76499046 76778856 + 22301074;30032202 100981802 A0A2R9AW32;A0A2R9AW70 MODEL JARIFH010000001;XM_003807785;XM_008959931 XP_003807833;XP_008958179 A0A2R9AW32 adenylate kinase isoenzyme 5 protein-coding ENSPPAG00000033952 1 78584653 78863844 + 11680632 NPM3 nucleophosmin/nucleoplasmin 3 INVOLVED IN rRNA processing (ortholog); rRNA transcription (ortholog); ASSOCIATED WITH Animal Disease Models (ortholog); genetic disease (ortholog); lung adenocarcinoma (ortholog); FOUND IN actin cytoskeleton (inferred); cytosol (inferred); nucleolus (inferred) 10 10 10 113673381 113675504 - 101855759 101857843 - 98384024 98386131 - 30032202 100982150 A0A2R9C0F3 MODEL JARIFH010000011;XM_003825508 XP_003825556 A0A2R9C0F3 nucleoplasmin-3 protein-coding ENSPPAG00000040517 10 101855759 101857845 - 11680647 DSCAM DS cell adhesion molecule ENCODES a protein that exhibits netrin receptor binding (inferred); protein tyrosine kinase binding (inferred); INVOLVED IN dendrite morphogenesis (ortholog); locomotory behavior (ortholog); post-embryonic retina morphogenesis in camera-type eye (ortholog); PARTICIPATES IN forkhead class A signaling pathway; ASSOCIATED WITH autistic disorder (ortholog); esophageal atresia (ortholog); genetic disease (ortholog); FOUND IN axon (inferred); dendrite (inferred); growth cone (inferred) 21 21 21 30966996 31793715 - 39699077 40054961 - 26366295 27192617 - 30032202 100983239 A0A2R8ZGT4;A0A2R8ZMN9 MODEL JARIFH010000022;XM_034948079;XM_034948080;XM_034948081;XM_055105145 XP_034803971;XP_054961120 A0A2R8ZGT4 Down syndrome cell adhesion molecule;cell adhesion molecule DSCAM protein-coding ENSPPAG00000017108 21 39699077 40524164 - 11680682 SLC25A31 solute carrier family 25 member 31 ENCODES a protein that exhibits ATP:ADP antiporter activity (inferred); INVOLVED IN male meiosis I (inferred); mitochondrial ADP transmembrane transport (inferred); mitochondrial ATP transmembrane transport (inferred); ASSOCIATED WITH genetic disease (ortholog); neuronal ceroid lipofuscinosis 7 (ortholog); FOUND IN membrane (inferred); mitochondrial inner membrane (inferred); mitochondrial permeability transition pore complex (inferred) 4 4 4 125759835 125803989 + 131200402 131244034 + 119894274 119938168 + 22301074;30032202 100984012 A0A2R9A6Y1 MODEL JARIFH010000005;XM_003823100;XM_055111814 XP_003823148;XP_054967789 A0A2R9A6Y1 ADP/ATP translocase 4 protein-coding ENSPPAG00000029688 4 131200402 131243952 + 11680692 JAKMIP1 janus kinase and microtubule interacting protein 1 ENCODES a protein that exhibits kinesin binding (ortholog); INVOLVED IN cognition (inferred); ASSOCIATED WITH autism spectrum disorder (ortholog); autistic disorder (ortholog); genetic disease (ortholog); FOUND IN microtubule cytoskeleton (ortholog) 4 4 6224588 6401880 - 6100985 6272453 - 30032202 100985423 A0A2R9BHP4;A0A2R9BHQ2;A0A2R9BHQ9;A0A2R9BL99 MODEL JARIFH010000005;XM_003816471;XM_014344577;XM_034951924;XM_034951925;XM_034951926;XM_057302029 XP_034807815;XP_034807816;XP_034807817;XP_057158012 A0A2R9BL99 janus kinase and microtubule-interacting protein 1 protein-coding ENSPPAG00000037524 4 6100985 6191991 - 11680723 LPP LIM domain containing preferred translocation partner in lipoma ENCODES a protein that exhibits metal ion binding (inferred); PARTICIPATES IN E-cadherin signaling pathway; ASSOCIATED WITH acute myeloid leukemia (ortholog); genetic disease (ortholog); juvenile rheumatoid arthritis (ortholog); FOUND IN cytosol (inferred); focal adhesion (inferred) 3 3 3 186023356 186765299 + 193738521 194474541 + 185179432 185916477 + 30032202 100985945 A0A2R9AAS7 MODEL JARIFH010000004;XM_008978651;XM_014344489;XM_034957879;XM_034957880;XM_034957881;XM_034957883;XM_034957884;XM_034957885;XM_055110780;XM_055110781;XM_055110782 XP_008976899;XP_014199975;XP_034813770;XP_054966755;XP_054966756;XP_054966757 A0A2R9AAS7 lipoma-preferred partner protein-coding ENSPPAG00000030332 3 193991530 194462641 + 11680748 LHX1 LIM homeobox 1 ENCODES a protein that exhibits cis-regulatory region sequence-specific DNA binding (inferred); DNA binding (inferred); DNA-binding transcription factor activity (inferred); INVOLVED IN anatomical structure formation involved in morphogenesis (ortholog); anatomical structure morphogenesis (ortholog); anterior/posterior axis specification (ortholog); ASSOCIATED WITH autism spectrum disorder (ortholog); autistic disorder (ortholog); chromosome 17q12 deletion syndrome (ortholog); FOUND IN nucleus (inferred); protein-containing complex (inferred); transcription regulator complex (inferred) 17 17 17 29695186 29700812 - 20430618 20437751 - 20134308 20140652 - 22301074;30032202 100988029 A0A2R9C5I6;A1YGE8;A1YGE9 MODEL DQ977267;JARIFH010000018;XM_003817955 ABM54373;ABM54374;XP_003818003 A0A2R9C5I6 LIM/homeobox protein Lhx1 protein-coding ENSPPAG00000040860 17 20430618 20437751 - 11680757 MGAT5B alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B ENCODES a protein that exhibits alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (inferred); glycosyltransferase activity (inferred); manganese ion binding (inferred); INVOLVED IN protein N-linked glycosylation (ortholog); ASSOCIATED WITH genetic disease (ortholog); polycystic ovary syndrome (ortholog); FOUND IN Golgi apparatus (inferred); Golgi membrane (inferred); membrane (inferred) 17 17 17 97744074 97829112 + 76511932 76593194 + 70945496 71030501 + 22301074;30032202 100988030 A0A2R9CIU6;A0A2R9CIW2;A0A2R9CS08;A0A2R9CS12 MODEL JARIFH010000018;XM_003818292;XM_034942963;XM_034942964;XM_055101149;XM_055101150;XM_055101151;XM_055101152 XP_054957124;XP_054957125;XP_054957126;XP_054957127 A0A2R9CIU6 mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B APPROVED protein-coding ENSPPAG00000043540 17 76511932 76593194 + 11680786 RAX retina and anterior neural fold homeobox ENCODES a protein that exhibits DNA binding (inferred); DNA-binding transcription activator activity, RNA polymerase II-specific (inferred); DNA-binding transcription factor activity, RNA polymerase II-specific (inferred); INVOLVED IN brain development (ortholog); camera-type eye development (ortholog); hypothalamus development (ortholog); ASSOCIATED WITH Anophthalmia (ortholog); Craniofacial Abnormalities (ortholog); genetic disease (ortholog); FOUND IN nucleus (inferred) 18 18 18 62505836 62512248 - 55990984 55995469 - 52664243 52669177 - 22301074;30032202 100988188 A0A2R9B6H5 MODEL JARIFH010000019;XM_034943568 XP_034799459 A0A2R9B6H5 retinal homeobox protein Rx protein-coding ENSPPAG00000035734 18 55990984 55995469 - 11680792 GXYLT2 glucoside xylosyltransferase 2 ENCODES a protein that exhibits glycosyltransferase activity (inferred); UDP-glycosyltransferase activity (inferred); UDP-xylosyltransferase activity (inferred); INVOLVED IN O-glycan processing (inferred); ASSOCIATED WITH genetic disease (ortholog) 3 3 3 72851166 72945522 + 74718984 74843524 + 72830699 72919827 + 30032202 100988228 A0A2R9BLG4 MODEL JARIFH010000004;XM_003815801;XM_034956892;XM_034956893;XM_034956894;XM_034956895;XM_034956896 XP_003815849;XP_034812783;XP_034812785;XP_034812786;XP_034812787 A0A2R9BLG4 protein-coding ENSPPAG00000037639 3 74758183 74843524 + 11680809 LOC100989105 signal transducer and activator of transcription 5B ENCODES a protein that exhibits chromatin binding (ortholog); DNA binding (ortholog); DNA-binding transcription factor activity (ortholog); INVOLVED IN activated T cell proliferation (ortholog); acute-phase response (ortholog); B cell differentiation (ortholog); PARTICIPATES IN erythropoietin signaling pathway; fibroblast growth factor signaling pathway; granulocyte-macrophage colony-stimulating factor signaling pathway; ASSOCIATED WITH Acute-Phase Reaction (ortholog); colon adenocarcinoma (ortholog); colorectal adenocarcinoma (ortholog); FOUND IN cytoplasm (inferred); nucleus (inferred) 17 17 17 24586321 24674917 + 15306412 15338973 + 15040303 15116682 + 30032202 100989105 A0A2R9BZK1;A0A2R9BZM3 MODEL JARIFH010000018;XM_034941835;XM_034941836;XM_055102058;XM_055102059;XM_055102060;XM_055102061 XP_034797726;XP_034797727;XP_054958033;XP_054958034;XP_054958035;XP_054958036 A0A2R9BZK1 STAT5B APPROVED protein-coding ENSPPAG00000039557 17 15306418 15336463 + 11680831 LOC100989998 protein FRG1-like 11 11 11 62833578 62835066 + 59325010 59331026 + 55883454 55884238 + 100989998 MODEL JARIFH010000012 APPROVED pseudo 11680832 LOC100990187 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1-like ENCODES a protein that exhibits 3-beta-hydroxy-delta5-steroid dehydrogenase activity (inferred); oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (inferred); INVOLVED IN steroid biosynthetic process (inferred) 1 1 1 111655342 111668599 + 118105062 118112445 - 83105462 83119340 - 22301074 100990187 A0A2R9A064;A0A2R9A4F7 MODEL JARIFH010000001;XM_008952224 XP_008950472 A0A2R9A4F7 protein-coding ENSPPAG00000028516 11680837 LOC100992150 olfactory receptor 4A5-like 11 11 57496321 57500443 + 50564246 50571942 + 100992150 MODEL JARIFH010000012 pseudo 11680838 P4HA1 prolyl 4-hydroxylase subunit alpha 1 ENCODES a protein that exhibits dioxygenase activity (inferred); identical protein binding (inferred); iron ion binding (inferred); INVOLVED IN collagen fibril organization (ortholog); ASSOCIATED WITH genetic disease (ortholog); FOUND IN procollagen-proline 4-dioxygenase complex (ortholog) 10 10 10 85188541 85277170 - 72017493 72106083 - 69554722 69643765 - 22301074;30032202 100992298 A0A2R9AA41;A0A2R9AFA2;A0A2R9AFT3 MODEL JARIFH010000011;XM_034930787;XM_034930788;XM_055092983;XM_055092984 XP_054948958;XP_054948959 A0A2R9AFA2 prolyl 4-hydroxylase subunit alpha-1 protein-coding ENSPPAG00000030135 10 72017500 72106083 - 11680856 LOC100992386 trypsin-like 7 7 7 31082117 31086516 - 146684655 146689051 - 134214524 134218935 - 100992386 MODEL JARIFH010000008 pseudo 11680857 LOC100992529 heterogeneous nuclear ribonucleoproteins C1/C2-like X X X 144210045 144210949 + 144293814 144294718 + 133917140 133918044 + 100992529 MODEL JARIFH010000024 heterogeneous nuclear ribonucleoprotein C pseudogene APPROVED pseudo 11680858 SLC52A2 solute carrier family 52 member 2 ENCODES a protein that exhibits 4-hydroxybutyrate receptor activity (inferred); riboflavin transmembrane transporter activity (inferred); INVOLVED IN riboflavin transport (ortholog); vitamin transmembrane transport (ortholog); ASSOCIATED WITH Brown-Vialetto-Van Laere syndrome (ortholog); Brown-Vialetto-Van Laere syndrome 1 (ortholog); Brown-Vialetto-Van Laere syndrome 2 (ortholog); FOUND IN plasma membrane (ortholog) 8 8 8 137375495 137378378 + 144111766 144114392 + 141122292 141124985 + 22301074;30032202 100992661 A0A2R9BPR3;A0A2R9BYT8;A0A2R9BYW1 MODEL JARIFH010000009;XM_003819423;XM_003819424;XM_008972738;XM_008972739 XP_003819471;XP_003819472;XP_008970986;XP_008970987 A0A2R9BYT8 solute carrier family 52, riboflavin transporter, member 2 protein-coding ENSPPAG00000038746 8 144112498 144114319 + 11680877 ALOX12 arachidonate 12-lipoxygenase, 12S type ENCODES a protein that exhibits arachidonate 12(S)-lipoxygenase activity (inferred); arachidonate 15-lipoxygenase activity (inferred); dioxygenase activity (inferred); INVOLVED IN cellular response to lipid (ortholog); hepoxilin biosynthetic process (ortholog); leukotriene A4 metabolic process (ortholog); PARTICIPATES IN acetylsalicylic acid pharmacodynamics pathway; antipyrine drug pathway; arachidonic acid metabolic pathway; ASSOCIATED WITH Albuminuria (ortholog); autism spectrum disorder (ortholog); Bone Metastasis (ortholog); FOUND IN sarcolemma (ortholog) 17 17 17 16555472 16571790 + 7014038 7029602 + 7026839 7041598 + 22301074;30032202 100992721 A0A2R9A7K3 MODEL JARIFH010000018;XM_003810126;XM_008962484 XP_003810174 A0A2R9A7K3 arachidonate 12-lipoxygenase, 12S-type;polyunsaturated fatty acid lipoxygenase ALOX12 protein-coding ENSPPAG00000029029 17 7014591 7029602 + 11680900 DCST2 DC-STAMP domain containing 2 INVOLVED IN fusion of sperm to egg plasma membrane involved in single fertilization (ortholog); sperm-egg recognition (ortholog); ASSOCIATED WITH Charcot-Marie-Tooth disease type 2 (ortholog); gastrointestinal stromal tumor (ortholog); genetic disease (ortholog) 1 1 1 94539234 94554366 + 133975724 133991290 - 130366692 130382001 - 22301074 100992998 MODEL JARIFH010000001;XM_003817084;XM_055101016;XM_055101019 XP_003817132;XP_054956991;XP_054956994 DC-STAMP domain-containing protein 2 protein-coding 11680918 SCUBE2 signal peptide, CUB domain and EGF like domain containing 2 ENCODES a protein that exhibits calcium ion binding (inferred); hedgehog family protein binding (inferred); INVOLVED IN chondrocyte differentiation involved in endochondral bone morphogenesis (ortholog); positive regulation of chondrocyte proliferation (ortholog); positive regulation of ossification (ortholog); ASSOCIATED WITH arteriovenous malformations of the brain (ortholog); genetic disease (ortholog); FOUND IN extracellular region (inferred); extracellular space (inferred) 11 11 11 11412582 11484448 - 8887127 8959669 - 9146533 9219816 - 22301074;30032202 100993004 A0A2R9AZG4;A0A2R9B0R3;A0A2R9B5N8;A0A2R9B5T1 MODEL JARIFH010000012;XM_014346705;XM_014346706;XM_034932112;XM_034932113;XM_055094088;XM_055094089 XP_014202191;XP_014202192;XP_034788003;XP_034788004;XP_054950063;XP_054950064 A0A2R9AZG4 signal peptide, CUB and EGF-like domain-containing protein 2 protein-coding ENSPPAG00000034469 11 8888668 8959677 - 11680946 DCHS2 dachsous cadherin-related 2 ENCODES a protein that exhibits calcium ion binding (inferred); INVOLVED IN condensed mesenchymal cell proliferation (ortholog); nephron development (ortholog); ASSOCIATED WITH genetic disease (ortholog); Multiple Abnormalities (ortholog); prostate cancer (ortholog); FOUND IN membrane (inferred); plasma membrane (inferred) 4 4 4 152488207 152759391 - 158414929 158676163 - 146597168 146858314 - 22301074 100993387 A0A2R9B5E2 MODEL JARIFH010000005;XM_024928710;XM_055111946 XP_024784478;XP_054967921 A0A2R9B5E2 LOC100993387;LOC100993733 protocadherin-16-like;protocadherin-23 PROVISIONAL protein-coding ENSPPAG00000035256 11680974 SPPL3 signal peptide peptidase like 3 ENCODES a protein that exhibits aspartic endopeptidase activity, intramembrane cleaving (inferred); protein homodimerization activity (inferred); INVOLVED IN membrane protein ectodomain proteolysis (ortholog); ASSOCIATED WITH genetic disease (ortholog); FOUND IN cytoplasmic side of endoplasmic reticulum membrane (inferred); endoplasmic reticulum-Golgi intermediate compartment membrane (inferred); Golgi-associated vesicle membrane (inferred) 12 12 12 128834324 128972679 - 121723881 121858502 - 118351199 118489579 - 22301074;30032202 100994030 A0A2R9AFB9;A0A2R9AJ75 MODEL JARIFH010000013;XM_034934655;XM_034934656;XM_055096258 XP_034790546;XP_034790547;XP_054952233 A0A2R9AJ75 signal peptide peptidase-like 3 protein-coding ENSPPAG00000030929 12 121723881 121773429 - 11680994 CRB1 crumbs cell polarity complex component 1 ENCODES a protein that exhibits calcium ion binding (inferred); INVOLVED IN blood vessel remodeling (ortholog); cellular response to light stimulus (ortholog); detection of light stimulus involved in visual perception (ortholog); ASSOCIATED WITH bestrophinopathy (ortholog); cone dystrophy (ortholog); cone-rod dystrophy (ortholog); FOUND IN apical part of cell (ortholog); microvillus (ortholog); photoreceptor inner segment (ortholog) 1 1 1 51867477 52146450 - 177174431 177389289 + 172794523 173076045 + 22301074;30032202 100994311 A0A2R9BCU6;A0A2R9BCW6;A0A2R9BGM6;A0A2R9BGP3;A0A2R9BLB2 MODEL JARIFH010000001;XM_003823075;XM_003823077;XM_008976672;XM_008976673;XM_034943059;XM_034943070;XM_034943077;XM_055110111;XM_055110116;XM_055110126;XM_055110132;XR_008624762 XP_003823123;XP_003823125;XP_008974920;XP_034798950;XP_034798961;XP_034798968;XP_054966086;XP_054966091;XP_054966101;XP_054966107 A0A2R9BCU6 crumbs 1, cell polarity complex component;crumbs homolog 1 APPROVED protein-coding ENSPPAG00000036764 1 177174431 177422867 + 11681018 LOC100995121 insulin-like growth factor 2 mRNA-binding protein 2 ENCODES a protein that exhibits nucleic acid binding (inferred); RNA binding (inferred); INVOLVED IN mRNA transport (inferred); FOUND IN cytoplasmic stress granule (inferred); P-body (inferred) 12 12 12 51864912 51870405 - 47293092 47294844 - 46429207 46431074 - 30032202 100995121 A0A2R9C059 MODEL JARIFH010000013;XM_034935006 XP_034790897 A0A2R9C059 insulin-like growth factor 2 mRNA-binding protein 2 pseudogene APPROVED protein-coding ENSPPAG00000038959 11681021 PRSS55 serine protease 55 ENCODES a protein that exhibits hydrolase activity (inferred); peptidase activity (inferred); serine-type endopeptidase activity (inferred); INVOLVED IN binding of sperm to zona pellucida (inferred); flagellated sperm motility (inferred); proteolysis (inferred); ASSOCIATED WITH genetic disease (ortholog); Neurodevelopmental Disorders (ortholog); FOUND IN cytosol (ortholog) 8 8 3011250 3024572 + 8656519 8685039 - 22301074 100995318 A0A2R8ZKI5 MODEL JARIFH010000009;XM_003805330;XM_034965625 XP_003805378 A0A2R8ZKI5 protease, serine 55 APPROVED protein-coding ENSPPAG00000013693 11681022 HGH1 HGH1 homolog ASSOCIATED WITH Brown-Vialetto-Van Laere syndrome 2 (ortholog); epidermolysis bullosa simplex with muscular dystrophy (ortholog); genetic disease (ortholog) 8 8 8 137155447 137158424 + 143882676 143897001 + 140902291 140905270 + 100995763 MODEL JARIFH010000009;XM_034966889 XP_034822780 FAM203A family with sequence similarity 203, member A protein-coding 11681032 SHH sonic hedgehog signaling molecule ENCODES a protein that exhibits hydrolase activity (ortholog); INVOLVED IN alpha-beta T cell differentiation (ortholog); anatomical structure development (ortholog); anatomical structure formation involved in morphogenesis (ortholog); PARTICIPATES IN altered Hedgehog signaling pathway; forkhead class A signaling pathway; glypican signaling pathway; ASSOCIATED WITH acrocallosal syndrome (ortholog); Anorectal Malformations (ortholog); atrioventricular septal defect (ortholog); FOUND IN axon (ortholog); dendrite (ortholog); extracellular region (ortholog) 7 7 7 44237491 44251151 - 159116966 159126660 - 147400112 147414036 - 22301074;30032202 100995872 A0A2R9ATB4;A0A2R9AZM6 MODEL AY307424;JARIFH010000008;XM_034965340 XP_034821231 A0A2R9ATB4 sonic hedgehog APPROVED protein-coding ENSPPAG00000033504 7 159114666 159126651 - 11681058 LOC103787032 upstream stimulatory factor 1-like 21 21 21 24293639 24304194 + 33058704 33069253 + 19683759 19694316 + 103787032 MODEL JARIFH010000022 upstream stimulatory factor 1 pseudogene APPROVED pseudo 11681065 TIGD1 tigger transposable element derived 1 ENCODES a protein that exhibits DNA binding (inferred); nucleic acid binding (inferred); ASSOCIATED WITH contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B (ortholog); genetic disease (ortholog); Joubert syndrome 22 (ortholog); FOUND IN nucleus (inferred) 2B 2B 2B 135168414 135170189 - 238698174 238700787 - 119779452 119782065 - 22301074;30032202 130541303 A0A2R8ZUT4 MODEL JARIFH010000003;XM_014344118;XM_057301545 XP_057157528 A0A2R8ZUT4 tigger transposable element-derived protein 1 protein-coding ENSPPAG00000025445 2B 238698311 238700086 - 11681070 LOC106635101 U1 small nuclear ribonucleoprotein C-like 9 9 9 91937730 91939074 + 33261697 33262156 - 32449959 32451303 - 106635101 MODEL JARIFH010000010 U1 small nuclear ribonucleoprotein C pseudogene APPROVED pseudo 11681079 LOC100968670 olfactory receptor 7E24-like 11 11 58146522 58148333 - 51214165 51215697 - 22301074;30032202 100968670 MODEL JARIFH010000012;XM_008964321;XM_055093848 XP_054949823 protein-coding 11681084 RC3H2 ring finger and CCCH-type domains 2 ENCODES a protein that exhibits DNA binding (inferred); double-stranded RNA binding (inferred); metal ion binding (inferred); INVOLVED IN B cell homeostasis (ortholog); limb development (ortholog); lung alveolus development (ortholog); ASSOCIATED WITH genetic disease (ortholog); FOUND IN cell surface (inferred); intracellular membrane-bounded organelle (inferred); membrane (inferred) 9 9 9 16448222 16504609 + 122308725 122365106 - 93975164 94031516 - 22301074 100970890 A0A2R9B867;A0A2R9B868;A0A2R9B9M4 MODEL JARIFH010000010;XM_003833136;XM_008958642;XM_008958643;XM_008958644;XM_008958645;XM_008958647;XM_024930076 XP_003833184;XP_008956890;XP_008956891;XP_008956892;XP_008956893;XP_008956895 A0A2R9B867 roquin-2 protein-coding ENSPPAG00000036013 9 122313791 122365102 - 11681123 LOC100973339 COP9 signalosome complex subunit 8-like X X X 86270026 86270654 - 85965883 85966511 - 75858229 75858857 - 100973339 MODEL JARIFH010000024 COP9 signalosome complex subunit 8 pseudogene APPROVED pseudo 11681124 MTAP methylthioadenosine phosphorylase ENCODES a protein that exhibits S-methyl-5-thioadenosine phosphorylase activity (ortholog); INVOLVED IN methylation (ortholog); nicotinamide riboside catabolic process (ortholog); response to testosterone (ortholog); PARTICIPATES IN glycine N-methyltransferase deficiency pathway; homocystinuria pathway; hypermethioninemia pathway; ASSOCIATED WITH biliary tract benign neoplasm (ortholog); common bile duct neoplasm (ortholog); diaphyseal medullary stenosis with malignant fibrous histiocytoma (ortholog); FOUND IN cytoplasm (inferred); cytosol (inferred); nucleoplasm (inferred) 9 9 9 102623086 102762138 - 22253357 22316883 + 21637543 21769698 + 22301074;30032202 100974089 A0A2R9BP85;A0A2R9BP89 MODEL JARIFH010000010;XM_003830680;XM_003830681;XM_034967238;XM_034967239;XM_057298729 XP_003830728;XP_003830729;XP_034823129;XP_034823130;XP_057154712 A0A2R9BP85 S-methyl-5'-thioadenosine phosphorylase protein-coding ENSPPAG00000038109 9 22266376 22382218 + 11681141 KBTBD8 kelch repeat and BTB domain containing 8 INVOLVED IN neural crest cell development (inferred); neural crest formation (inferred); protein monoubiquitination (inferred); ASSOCIATED WITH genetic disease (ortholog); FOUND IN Cul3-RING ubiquitin ligase complex (inferred); cytoplasm (inferred); cytoskeleton (inferred) 3 3 3 66928611 66941635 + 68272169 68285068 + 66903965 66916924 + 22301074 100974181 A0A2R9C7L2;A0A2R9CI59 MODEL JARIFH010000004;XM_003811592;XM_008963970 XP_003811640;XP_008962218 A0A2R9C7L2 kelch repeat and BTB domain-containing protein 8 protein-coding ENSPPAG00000041680 3 68272169 68285068 + 11681153 PHTF1 putative homeodomain transcription factor 1 ASSOCIATED WITH genetic disease (ortholog); hereditary spastic paraplegia 47 (ortholog); RASopathy (ortholog); FOUND IN cis-Golgi network membrane (ortholog); endoplasmic reticulum membrane (ortholog) 1 1 1 105949211 106013480 - 123844587 123906786 + 88796456 88860464 + 30032202 100976821 A0A2R8ZZQ9;A0A2R8ZZR4;A0A2R9A411;A0A2R9A421 MODEL JARIFH010000001;XM_024925987;XM_034930316;XM_034930320;XM_034930337;XM_034930344;XM_034930347;XM_034930361;XM_034930374;XM_034930377;XM_034930379;XM_055114124;XM_055114125;XM_055114126;XM_055114137;XR_004664608;XR_004664609;XR_004664614;XR_004664616;XR_004664618 XP_024781755;XP_034786211;XP_034786235;XP_034786252;XP_034786265;XP_054970099;XP_054970100;XP_054970101;XP_054970112 A0A2R8ZZQ9 protein-coding ENSPPAG00000028420 1 123845818 123906285 + 11681176 NLRP9 NLR family pyrin domain containing 9 INVOLVED IN blastocyst development (ortholog); defense response to virus (ortholog); innate immune response (ortholog); ASSOCIATED WITH genetic disease (ortholog); FOUND IN canonical inflammasome complex (inferred) 19 19 19 63567859 63612116 - 61440710 61473249 - 52755932 52787678 - 22301074;30032202 100977281 A0A2R9CN71 MODEL JARIFH010000020;XM_003807087 XP_003807135 A0A2R9CN71 NACHT, LRR and PYD domains-containing protein 9 protein-coding ENSPPAG00000042520 19 61440710 61473249 - 11681189 ZNF623 zinc finger protein 623 ASSOCIATED WITH Brown-Vialetto-Van Laere syndrome 2 (ortholog); epidermolysis bullosa simplex with muscular dystrophy (ortholog); genetic disease (ortholog) 8 8 8 136634183 136657472 + 143405063 143420506 + 140388868 140407482 + 30032202 100977811 MODEL JARIFH010000009;XM_003819467;XM_008972795;XM_034966812;XM_034966813;XR_004673136 XP_003819515;XP_008971043;XP_034822703;XP_034822704 protein-coding 11681199 CCT6B chaperonin containing TCP1 subunit 6B ENCODES a protein that exhibits ATP binding (inferred); ATP hydrolysis activity (inferred); ATP-dependent protein folding chaperone (inferred); INVOLVED IN protein folding (inferred); ASSOCIATED WITH Burkitt lymphoma (ortholog); genetic disease (ortholog); Neurodevelopmental Disorders (ortholog); FOUND IN chaperonin-containing T-complex (inferred); cytoplasm (inferred); cytosol (inferred) 17 17 17 31366093 31420120 + 22117435 22152205 + 21825636 21875619 + 22301074;30032202 100978033 A0A2R9BEW8;A0A2R9BEW9;A0A2R9BG23;A0A2R9BG30 MODEL JARIFH010000018;XM_003817999;XM_034942094;XM_055101159;XM_055101160;XM_055101161 XP_003818047;XP_054957134;XP_054957135;XP_054957136 A0A2R9BG30 T-complex protein 1 subunit zeta-2 protein-coding ENSPPAG00000037136 17 22117492 22152205 + 11681224 NEURL4 neuralized E3 ubiquitin protein ligase 4 ASSOCIATED WITH common variable immunodeficiency (ortholog); congenital myasthenic syndrome 2A (ortholog); dyskeratosis congenita (ortholog) 17 17 17 16878360 16892037 - 7336447 7349407 - 7349739 7363419 - 30032202 100980246 A0A2R9B5D0;A0A2R9B6V4 MODEL JARIFH010000018;XM_014341925;XM_034941411;XM_034941412;XM_034941413;XR_004667117 XP_014197411;XP_034797302;XP_034797303;XP_034797304 A0A2R9B6V4 neuralized homolog 4;neuralized-like protein 4 protein-coding ENSPPAG00000035488 17 7336447 7349473 - 11681256 SF3A2 splicing factor 3a subunit 2 ENCODES a protein that exhibits nucleic acid binding (inferred); zinc ion binding (inferred); INVOLVED IN mRNA splicing, via spliceosome (ortholog); positive regulation of neuron projection development (ortholog); U2-type prespliceosome assembly (ortholog); PARTICIPATES IN spliceosome pathway; ASSOCIATED WITH genetic disease (ortholog); Neurodevelopmental Disorders (ortholog); progressive myoclonus epilepsy 9 (ortholog); FOUND IN catalytic step 2 spliceosome (ortholog); nuclear speck (ortholog); U2 snRNP (ortholog) 19 19 19 5850687 5862859 + 2219326 2231343 + 1247812 1259984 + 22301074;30032202 100980537 A0A2R9BJY9 MODEL JARIFH010000020;XM_008972586 XP_008970834 A0A2R9BJY9 protein-coding ENSPPAG00000037864 11681269 SLC26A1 solute carrier family 26 member 1 ENCODES a protein that exhibits chloride transmembrane transporter activity (ortholog); oxalate transmembrane transporter activity (ortholog); sulfate transmembrane transporter activity (ortholog); INVOLVED IN chloride transport (ortholog); oxalate transport (ortholog); sulfate transport (ortholog); ASSOCIATED WITH calcium oxalate nephrolithiasis (ortholog); Calcium Oxalate Nephrolithiasis 1 (ortholog); carbohydrate metabolic disorder (ortholog); FOUND IN basolateral plasma membrane (ortholog); plasma membrane (ortholog) 4 4 4 1273068 1293527 - 1021157 1026402 - 1102938 1112987 - 22301074;30032202 100980604 A0A2R9B154;A0A2R9B339 MODEL JARIFH010000005;XM_008963702;XM_034958122;XM_055111106;XM_055111108;XR_004670955 XP_008961950;XP_054967081;XP_054967083 A0A2R9B339 LOC117979897 solute carrier family 26 (sulfate transporter), member 1;sulfate anion transporter 1;uncharacterized LOC117979897 PROVISIONAL protein-coding ENSPPAG00000034145 4 1012920 1026402 - 11681278 PRKCSH protein kinase C substrate 80K-H ENCODES a protein that exhibits phosphoprotein binding (ortholog); protein kinase C binding (ortholog); protein-containing complex binding (ortholog); INVOLVED IN in utero embryonic development (ortholog); liver development (ortholog); N-glycan processing (ortholog); ASSOCIATED WITH alpha-mannosidosis (ortholog); Charcot-Marie-Tooth disease dominant intermediate B (ortholog); episodic ataxia type 2 (ortholog); FOUND IN glucosidase II complex (ortholog); intracellular membrane-bounded organelle (ortholog) 19 19 19 15347265 15364284 + 11693620 11707610 + 10981398 10997062 + 22301074;30032202 100981178 A0A2R9BCJ7 MODEL JARIFH010000020;XM_034945379;XM_034945380;XM_034945381;XM_034945382;XR_008622093;XR_008622094;XR_008622095 XP_034801270;XP_034801271;XP_034801272;XP_034801273 A0A2R9BCJ7 glucosidase 2 subunit beta protein-coding ENSPPAG00000035556 19 11693620 11707728 + 11681307 HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 ENCODES a protein that exhibits GTP-dependent protein binding (inferred); small GTPase binding (inferred); INVOLVED IN blood coagulation (ortholog); organelle organization (ortholog); pigmentation (ortholog); ASSOCIATED WITH genetic disease (ortholog); hemorrhagic disease (ortholog); Hermansky-Pudlak syndrome (ortholog); FOUND IN BLOC-2 complex (ortholog) 10 10 10 113959666 113962681 + 102139235 102142002 + 98670168 98672896 + 30032202 100982810 A0A2R8ZCG4 MODEL JARIFH010000011;XM_003825510 XP_003825558 A0A2R8ZCG4 BLOC-2 complex member HPS6;HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 APPROVED protein-coding ENSPPAG00000011993 10 102139439 102141766 + 11681312 FARP1 FERM, ARH/RhoGEF and pleckstrin domain protein 1 ENCODES a protein that exhibits small GTPase binding (ortholog); INVOLVED IN dendrite morphogenesis (ortholog); postsynaptic actin cytoskeleton organization (ortholog); regulation of presynapse assembly (ortholog); ASSOCIATED WITH Anal Atresia, Hypospadias, and Penoscrotal Inversion (ortholog); genetic disease (ortholog); holoprosencephaly 5 (ortholog); FOUND IN cytoplasmic side of plasma membrane (ortholog); cytosol (ortholog); dendrite (ortholog) 13 13 13 98326502 98641059 + 98452203 98762514 + 79300995 79615649 + 22301074;30032202 100983297 A0A2R8ZC12;A0A2R8ZCI4;A0A2R8ZCJ4;A0A2R8ZIT7 MODEL JARIFH010000014;XM_034936874;XM_034936875;XM_034936876;XM_034936877;XM_055096923;XM_055096925;XM_055096926 XP_034792767;XP_034792768;XP_054952898;XP_054952900;XP_054952901 A0A2R8ZCI4 FERM, ARHGEF and pleckstrin domain-containing protein 1;FERM, RhoGEF and pleckstrin domain-containing protein 1 protein-coding ENSPPAG00000011203 13 98522235 98761085 + 11681353 ATG4B autophagy related 4B cysteine peptidase ENCODES a protein that exhibits cysteine-type endopeptidase activity (inferred); cysteine-type peptidase activity (inferred); endopeptidase activity (inferred); INVOLVED IN cellular response to starvation (ortholog); otolith mineralization completed early in development (ortholog); positive regulation of protein catabolic process (ortholog); PARTICIPATES IN autophagy pathway; ASSOCIATED WITH Bethlem Myopathy 1 (ortholog); chromosome 2q37 deletion syndrome (ortholog); D-2-hydroxyglutaric aciduria 1 (ortholog); FOUND IN autophagosome membrane (ortholog) 2B 2B 2B 144360352 144395867 + 247702880 247738985 + 128913323 128950112 + 22301074 100983856 A0A2R9B6Y6;A0A2R9BAQ2;A0A2R9BEB8 MODEL JARIFH010000003;XM_003813046;XM_008965606;XM_034955583 XP_003813094;XP_034811474 A0A2R9B6Y6 cysteine protease ATG4B protein-coding ENSPPAG00000035793 2B 247702880 247738977 + 11681375 PTMS parathymosin ENCODES a protein that exhibits zinc ion binding (ortholog); ASSOCIATED WITH genetic disease (ortholog); Hyperphosphatemic Familial Tumoral Calcinosis 1 (ortholog); lymphoproliferative syndrome 2 (ortholog) 12 12 12 12325525 12330302 + 6810493 6815611 + 6897502 6902257 + 30032202 100983897 A0A2R9B042;A0A2R9B047 MODEL JARIFH010000013;XM_034935244 XP_034791135 A0A2R9B047 protein-coding ENSPPAG00000033598 12 6814264 6815101 + 11681386 LOC100984084 zinc finger protein 33A ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN regulation of DNA-templated transcription (inferred) 10 10 10 50658095 50704331 + 38617044 38663620 + 38071555 38118544 + 22301074 100984084 A0A2R8ZDT2;A0A2R8ZDX4;A0A2R8ZEA6;A0A2R8ZHH0 MODEL JARIFH010000011;XM_003814773;XM_008967536;XM_008967543;XM_008967545;XM_008967548;XM_008967553;XM_024930434;XM_034930318;XM_034930319;XM_034930321;XM_055092660;XM_055092662;XM_055092663 XP_003814821;XP_008965784;XP_008965791;XP_008965793;XP_008965796;XP_034786210;XP_054948635;XP_054948637;XP_054948638 A0A2R8ZDT2 ZNF33A protein-coding ENSPPAG00000013516 10 38617115 38669710 + 11681438 GSTK1 glutathione S-transferase kappa 1 ENCODES a protein that exhibits glutathione peroxidase activity (inferred); glutathione transferase activity (inferred); oxidoreductase activity (inferred); INVOLVED IN epithelial cell differentiation (ortholog); glutathione metabolic process (ortholog); ASSOCIATED WITH genetic disease (ortholog); osteoarthritis (ortholog); Prostatic Neoplasms (ortholog); FOUND IN mitochondrial matrix (ortholog); peroxisome (ortholog) 7 7 7 32126607 32136166 + 147749461 147755158 + 135258184 135267254 + 22301074;30032202 100984910 A0A2R8ZBU1;A0A2R8ZCB7;A0A2R8ZFR1;A0A2R8ZIL0 MODEL JARIFH010000008;XM_003820543;XM_008973997;XM_024929409;XM_055115475 XP_003820591;XP_008972245;XP_024785177;XP_054971450 A0A2R8ZFR1 protein-coding ENSPPAG00000010977 7 147749461 147755158 + 11681452 PHF7 PHD finger protein 7 ENCODES a protein that exhibits metal ion binding (inferred); ASSOCIATED WITH congenital disorder of glycosylation In (ortholog); genetic disease (ortholog); sensorineural hearing loss (ortholog); FOUND IN cytosol (inferred); Golgi apparatus (inferred); nuclear speck (inferred) 3 3 3 52410509 52423701 + 53582136 53595203 + 52352652 52365798 + 30032202 100985109 A0A2R9BB34;A0A2R9BB47;A0A2R9BB50;A0A2R9BCI2 MODEL JARIFH010000004;XM_003818760;XM_008972129;XM_008972130;XM_034956604;XM_034956605;XM_034956606;XM_055110013;XM_055110014;XM_055110015;XM_055110016;XM_055110017;XM_055110018;XM_055110019;XM_055110020 XP_003818808;XP_008970377;XP_008970378;XP_034812495;XP_034812496;XP_054965988;XP_054965989;XP_054965990;XP_054965991;XP_054965992;XP_054965993;XP_054965994;XP_054965995 A0A2R9BB34 protein-coding ENSPPAG00000036489 3 53582136 53595202 + 11681474 ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 ENCODES a protein that exhibits guanyl-nucleotide exchange factor activity (inferred); INVOLVED IN receptor clustering (ortholog); regulation of postsynaptic specialization assembly (ortholog); ASSOCIATED WITH autism spectrum disorder (ortholog); autistic disorder (ortholog); developmental and epileptic encephalopathy 1 (ortholog); FOUND IN cell cortex (ortholog); GABA-ergic synapse (ortholog); glycinergic synapse (ortholog) X X X 63191038 63358277 - 62862115 63010088 - 52779238 52946480 - 22301074 100986328 A0A2R8ZL70;A0A2R8ZL82;A0A2R8ZLA9;A0A2R8ZLD0;A0A2R8ZLD5;A0A2R8ZMA8;A0A2R8ZNZ5;A0A2R8ZP46;A0A2R8ZSB2;A0A2R8ZSE3 MODEL JARIFH010000024;XM_003816928;XM_003816929;XM_008970030;XM_008970031;XM_008970033;XM_008970034;XM_008970035;XM_008970036;XM_024927241;XM_024927242;XM_034950100;XM_034950101;XM_034950102;XM_034950103;XM_034950104;XM_034950105;XM_034950106;XM_034950107;XM_034950108;XM_034950109;XM_034950110;XM_034950111;XM_034950112;XM_034950113;XM_034950114;XM_034950115;XM_034950116;XM_034950117;XM_034950118;XM_055106744;XM_055106745;XM_055106746;XM_055106747;XM_057301170;XM_057301171;XM_057301172;XM_057301173;XM_057301174;XM_057301175;XM_057301176 XP_003816976;XP_003816977;XP_008968278;XP_008968281;XP_008968283;XP_008968284;XP_034806003;XP_034806004;XP_034806009;XP_054962719;XP_054962720;XP_054962721;XP_054962722;XP_057157153;XP_057157154;XP_057157155;XP_057157156;XP_057157157;XP_057157158;XP_057157159 A0A2R8ZLA9 rho guanine nucleotide exchange factor 9 protein-coding ENSPPAG00000023374 X 62862115 63010512 - 11681513 PPM1F protein phosphatase, Mg2+/Mn2+ dependent 1F ENCODES a protein that exhibits phosphoprotein phosphatase activity (ortholog); protein serine/threonine phosphatase activity (ortholog); INVOLVED IN protein dephosphorylation (ortholog); PARTICIPATES IN adenosine monophosphate-activated protein kinase (AMPK) signaling pathway; calcium/calmodulin dependent kinase 2 signaling pathway; ASSOCIATED WITH chromosome 22q11.2 deletion syndrome, distal (ortholog); DiGeorge syndrome (ortholog); genetic disease (ortholog); FOUND IN perinuclear region of cytoplasm (ortholog) 22 22 22 34010360 34043505 - 20520022 20553128 - 4039032 4072165 - 22301074;30032202 100987493 A0A2R9CLY1;A0A2R9CM16 MODEL JARIFH010000023;XM_003807739 XP_003807787 A0A2R9CLY1 protein-coding ENSPPAG00000044040 22 20520022 20553128 - 11681525 KDM2B lysine demethylase 2B ENCODES a protein that exhibits dioxygenase activity (inferred); DNA binding (inferred); histone H3 demethylase activity (inferred); INVOLVED IN negative regulation of transcription by RNA polymerase II (ortholog); positive regulation of cell growth (ortholog); positive regulation of stem cell population maintenance (ortholog); PARTICIPATES IN DNA modification pathway; histone modification pathway; ASSOCIATED WITH acute lymphoblastic leukemia (ortholog); Developmental Disabilities (ortholog); genetic disease (ortholog); FOUND IN nucleoplasm (inferred); nucleus (inferred); PcG protein complex (inferred) 12 12 12 129511238 129666874 - 122401296 122556980 - 119027633 119183779 - 22301074;30032202 100988129 A0A2R9B2P2;A0A2R9B2T8;A0A2R9B6K0;A0A2R9B6K9;A0A2R9B9F5 MODEL JARIFH010000013;XM_003832359;XM_008957749;XM_008957751;XM_008957754;XM_008957755;XM_008957756;XM_008957757;XM_008957758;XM_008957760;XM_008957761;XM_024931038;XM_034934671;XM_034934672;XM_034934673;XM_034934674;XM_034934675;XM_034934676;XM_034934677;XM_034934678;XM_034934679;XM_034934680;XM_055096261;XM_055096262;XM_055096263;XM_055096264;XM_055096265 XP_054952236;XP_054952237;XP_054952238;XP_054952239;XP_054952240 A0A2R9B6K0 lysine-specific demethylase 2B protein-coding ENSPPAG00000035060 12 122401296 122555246 - 11681587 NOTCH4 notch receptor 4 ENCODES a protein that exhibits Notch binding (ortholog); INVOLVED IN branching involved in blood vessel morphogenesis (ortholog); endothelial cell differentiation (ortholog); endothelial cell morphogenesis (ortholog); PARTICIPATES IN Notch signaling pathway; ASSOCIATED WITH AIDS-Associated Nephropathy (ortholog); alopecia areata (ortholog); Animal Mammary Neoplasms (ortholog); FOUND IN cytoplasmic vesicle (ortholog); endoplasmic reticulum (ortholog) 6 6 6 42619989 42648574 - 32722112 32750978 - 31842233 31871412 - 22301074;30032202 100988436 A0A2R9AC37 MODEL JARIFH010000007;XM_003829762;XM_008955130;XM_008955131 XP_003829810;XP_008953378 A0A2R9AC37 neurogenic locus notch homolog protein 4;notch 4 APPROVED protein-coding ENSPPAG00000030396 6 32722112 32750978 - 11681626 SRRD SRR1 domain containing INVOLVED IN regulation of circadian rhythm (ortholog); regulation of heme biosynthetic process (ortholog); ASSOCIATED WITH cataract 23 (ortholog); genetic disease (ortholog); FOUND IN cytoplasm (ortholog) 22 22 22 39188625 39203521 + 25268684 25276668 + 7545779 7559431 + 30032202 100988703 A0A2R9BF02 MODEL JARIFH010000023;XM_034948637;XM_034948638;XM_034948639 XP_034804528;XP_034804529 A0A2R9BF02 protein-coding ENSPPAG00000036964 22 25268727 25276402 + 11681637 SLC22A5 solute carrier family 22 member 5 ENCODES a protein that exhibits (R)-carnitine transmembrane transporter activity (ortholog); carnitine transmembrane transporter activity (ortholog); quaternary ammonium group transmembrane transporter activity (ortholog); INVOLVED IN (R)-carnitine transport (ortholog); adult heart development (ortholog); carnitine metabolic process (ortholog); ASSOCIATED WITH autism spectrum disorder (ortholog); cardiomyopathy (ortholog); carnitine palmitoyltransferase II deficiency (ortholog); FOUND IN basolateral plasma membrane (ortholog); cytoplasm (ortholog); cytosol (ortholog) 5 5 5 125826838 125852355 + 133954549 133980410 + 127791984 127817870 + 22301074 100989213 A0A2R9CAB7;A0A2R9CCS2 MODEL JARIFH010000006;XM_034960464 XP_034816355 A0A2R9CAB7 organic cation/carnitine transporter 2 protein-coding ENSPPAG00000042113 5 133954678 133979066 + 11681653 PTPRC protein tyrosine phosphatase receptor type C ENCODES a protein that exhibits ankyrin binding (inferred); heparan sulfate proteoglycan binding (inferred); heparin binding (inferred); INVOLVED IN alpha-beta T cell proliferation (ortholog); B cell differentiation (ortholog); B cell proliferation (ortholog); ASSOCIATED WITH Experimental Liver Cirrhosis (ortholog); Gastro-Enteropancreatic Neuroendocrine Tumor (ortholog); gastrointestinal stromal tumor (ortholog); FOUND IN cell surface (ortholog) 1 1 1 50578414 50696646 - 178555803 178674089 + 174246389 174364893 + 22301074;30032202 100990077 A0A2R9AZM9;A0A2R9B4U9 MODEL JARIFH010000001;XM_003823065;XM_024930523;XM_034943283;XM_034943288;XM_034943296;XM_055110059 XP_024786291;XP_034799174;XP_034799187;XP_054966034 A0A2R9B4U9 receptor-type tyrosine-protein phosphatase C APPROVED protein-coding ENSPPAG00000034398 1 178556104 178672994 + 11681695 OBSL1 obscurin like cytoskeletal adaptor 1 INVOLVED IN Golgi organization (inferred); microtubule cytoskeleton organization (inferred); positive regulation of dendrite morphogenesis (inferred); ASSOCIATED WITH 3-M syndrome (ortholog); alacrima, achalasia, and impaired intellectual development syndrome (ortholog); ankyloglossia (ortholog); FOUND IN 3M complex (inferred); centrosome (inferred); cytoplasm (inferred) 2B 2B 2B 122193304 122216801 - 225402614 225419008 - 106805441 106828937 - 22301074 100990156 A0A2R9BEW2;A0A2R9BIS1;A0A2R9BIS9 MODEL JARIFH010000003;XM_034955229;XM_034955230;XM_034955231;XM_034955232;XM_034955233;XM_034955234;XM_034955235;XM_034955236;XM_034955237;XM_034955238;XM_034955239;XM_034955240;XM_034955241;XM_057301517 XP_034811120;XP_034811121;XP_034811122;XP_034811123;XP_034811124;XP_034811125;XP_034811126;XP_034811127;XP_034811128;XP_034811130;XP_034811131;XP_034811132;XP_057157500 A0A2R9BEW2 LOC100990156;LOC103786121 obscurin like 1;obscurin-like 1;obscurin-like protein 1 PROVISIONAL protein-coding ENSPPAG00000037124 2B 225398863 225418567 - 11681719 MAGED1 MAGE family member D1 ENCODES a protein that exhibits transcription coactivator activity (ortholog); INVOLVED IN circadian regulation of gene expression (ortholog); negative regulation of DNA-templated transcription (ortholog); negative regulation of protein localization to nucleus (ortholog); ASSOCIATED WITH autistic disorder (ortholog); genetic disease (ortholog); Stocco Dos Santos type X-linked intellectual disability (ortholog); FOUND IN chromatin (ortholog); nucleus (ortholog) X X X 53195664 53294968 + 51893306 51992850 + 43999576 44098848 + 30032202 100990748 A0A2R9BHS6;A0A2R9BIQ4;A0A2R9BLC1 MODEL JARIFH010000024;XM_003804874;XM_003804875;XM_008964564;XM_055106843;XM_055106844;XM_055106845;XM_057301188;XM_057301189 XP_003804922;XP_003804923;XP_008962812;XP_054962818;XP_054962819;XP_054962820;XP_057157171;XP_057157172 A0A2R9BHS6 melanoma-associated antigen D1 protein-coding ENSPPAG00000037605 X 51984080 51992850 + 11681744 RNF169 ring finger protein 169 ENCODES a protein that exhibits K63-linked polyubiquitin modification-dependent protein binding (inferred); nucleosome binding (inferred); ubiquitin modification-dependent histone binding (inferred); INVOLVED IN DNA damage response (inferred); double-strand break repair via homologous recombination (inferred); negative regulation of double-strand break repair (inferred); ASSOCIATED WITH 3-methylglutaconic aciduria type 7b (ortholog); genetic disease (ortholog); intellectual disability (ortholog); FOUND IN cytosol (inferred); nuclear body (inferred); nucleolus (inferred) 11 11 11 76735121 76820238 + 73126127 73213002 + 69821842 69909297 + 30032202 100991152 A0A2R8ZJ36 MODEL JARIFH010000012;XM_034933377;XM_034933378 XP_034789269 A0A2R8ZJ36 E3 ubiquitin-protein ligase RNF169 protein-coding ENSPPAG00000020912 11 73126127 73207340 + 11681754 DDI2 DNA damage inducible 1 homolog 2 ENCODES a protein that exhibits aspartic-type endopeptidase activity (inferred); hydrolase activity (inferred); identical protein binding (inferred); INVOLVED IN cellular response to hydroxyurea (inferred); proteasomal protein catabolic process (inferred); protein processing (inferred); ASSOCIATED WITH chromosome 1p36 deletion syndrome (ortholog); genetic disease (ortholog); Hereditary Pancreatitis (ortholog); FOUND IN cytosol (inferred); nucleoplasm (inferred) 1 1 1 210496015 210549655 - 15749497 15795631 + 14757327 14810959 + 22301074 100991528 A0A2R9BMW9 MODEL JARIFH010000001;XM_008951750;XM_034956014 XP_008949998;XP_034811905 A0A2R9BMW9 LOC100991528 DNA-damage inducible 1 homolog 2;regulatory solute carrier protein family 1 member 1 APPROVED protein-coding ENSPPAG00000024018;ENSPPAG00000038331 1;1 15749497;15793469 15790263;15795325 +;+ 11681773 CARNMT1 carnosine N-methyltransferase 1 ENCODES a protein that exhibits carnosine N-methyltransferase activity (inferred); protein homodimerization activity (inferred); S-adenosylmethionine-dependent methyltransferase activity (inferred); INVOLVED IN carnosine metabolic process (inferred); PARTICIPATES IN histidine metabolic pathway; histidinemia pathway; ASSOCIATED WITH genetic disease (ortholog); intellectual disability (ortholog); FOUND IN cytosol (inferred); nucleus (inferred) 9 9 9 74155458 74203081 - 73837056 73885133 - 49806082 49854079 + 22301074;30032202 100992790 A0A2R9BQL8;A0A2R9BQM2 MODEL JARIFH010000010;XM_008975744;XM_008975745;XM_034967556;XM_034967557 XP_008973992;XP_008973993;XP_034823447;XP_034823448 A0A2R9BQM2 UPF0586 protein C9orf41-like;carnosine N-methyltransferase protein-coding ENSPPAG00000038872 9 73837056 73884964 - 11681799 SLC17A6 solute carrier family 17 member 6 ENCODES a protein that exhibits chloride channel activity (ortholog); potassium:proton antiporter activity (ortholog); sodium:phosphate symporter activity (ortholog); INVOLVED IN hippocampus development (ortholog); hyaloid vascular plexus regression (ortholog); neural retina development (ortholog); ASSOCIATED WITH genetic disease (ortholog); intellectual disability (ortholog); learning disability (ortholog); FOUND IN early endosome (ortholog); excitatory synapse (ortholog); neuron projection (ortholog) 11 11 11 24591980 24633414 + 22257983 22299443 + 22350537 22392009 + 22301074;30032202 100993099 A0A2R9A772;A0A2R9A8B7;A0A2R9ACE7 MODEL JARIFH010000012;XM_003830451 XP_003830499 A0A2R9ACE7 solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6;vesicular glutamate transporter 2 protein-coding ENSPPAG00000029737 11 22258011 22301944 + 11681815 NDE1 nudE neurodevelopment protein 1 ENCODES a protein that exhibits protein domain specific binding (ortholog); INVOLVED IN cerebral cortex development (ortholog); forebrain development (ortholog); microtubule nucleation (ortholog); ASSOCIATED WITH aortic aneurysm (ortholog); aortic disease (ortholog); autistic disorder (ortholog); FOUND IN centrosome (inferred); chromosome, centromeric region (inferred); cytoplasm (inferred) 16 16 19483154 19564415 + 15948881 16004208 + 30032202 100993138 A0A2R9B0A7;A0A2R9B300;A0A2R9B321;A0A2R9B325 MODEL JARIFH010000017;XM_008965463;XM_008965480;XM_008965485;XM_008965492;XM_008965504;XM_034951179;XM_034951180;XM_034951181;XM_034951182;XM_034951183;XM_055099397;XM_055099398 XP_008963711;XP_008963728;XP_008963733;XP_008963740;XP_008963752;XP_034807070;XP_034807071;XP_034807072;XP_034807073;XP_034807074;XP_054955372;XP_054955373 A0A2R9B300 nuclear distribution protein nudE homolog 1;nudE nuclear distribution E homolog 1 protein-coding ENSPPAG00000034433 16 15948881 16027986 + 11681841 GSC goosecoid homeobox ENCODES a protein that exhibits DNA binding (inferred); DNA-binding transcription factor activity, RNA polymerase II-specific (inferred); DNA-binding transcription repressor activity, RNA polymerase II-specific (inferred); INVOLVED IN anatomical structure morphogenesis (ortholog); dorsal/ventral neural tube patterning (ortholog); ear development (ortholog); ASSOCIATED WITH Craniofacial Abnormalities (ortholog); DICER1 syndrome (ortholog); genetic disease (ortholog); FOUND IN nucleus (inferred); transcription regulator complex (inferred) 14 14 14 95132298 95134186 - 94718269 94720200 - 75390119 75392050 - 18689901;22301074;30032202 100995285 A1YG57 MODEL DQ977221;JARIFH010000015;XM_003832829 A1YG57;ABM54282;XP_003832877 A1YG57 Homeobox protein goosecoid protein-coding ENSPPAG00000040766 14 94718269 94720404 - 11681848 LOC100995427 D-dopachrome tautomerase 22 22 22 36434625 36444085 - 22805524 22808736 - 4722289 4725651 - 30032202 100995427 A0A2R9AY09;A0A2R9AYG7 MODEL JARIFH010000023;XM_008961982 XP_008960230 A0A2R9AYG7 D-dopachrome decarboxylase APPROVED protein-coding ENSPPAG00000034257 22 22805705 22811057 - 11681855 SDC3 syndecan 3 ENCODES a protein that exhibits identical protein binding (inferred); INVOLVED IN cell adhesion (ortholog); regulation of cell migration (ortholog); PARTICIPATES IN melanocortin system pathway; syndecan signaling pathway; ASSOCIATED WITH genetic disease (ortholog); obesity (ortholog); FOUND IN axon (ortholog); plasma membrane (ortholog); protein-containing complex (ortholog) 1 1 1 195048132 195087879 + 31169002 31181000 - 30143050 30182795 - 30032202 100995829 A0A2R9AK95 MODEL JARIFH010000001;XM_008953449;XM_034959747;XM_034959750;XM_034959753 XP_008951697;XP_034815641;XP_034815644 A0A2R9AK95 syndecan-3 protein-coding ENSPPAG00000032002 1 31169002 31178265 - 11681896 LOC103785994 cysteine and histidine-rich domain-containing protein 1-like 18 18 18 21193357 21194774 + 13645285 13646275 + 11337640 11339051 + 103785994 MODEL JARIFH010000019 pseudo 11681897 LOC103786850 peflin-like 1 1 1 44812426 44816655 + 184417897 184419330 - 180128984 180131400 - 103786850 MODEL JARIFH010000001 peflin pseudogene APPROVED pseudo 11681903 HHLA2 HHLA2 member of B7 family INVOLVED IN positive regulation of activated T cell proliferation (inferred); positive regulation of cytokine production (inferred); T cell costimulation (inferred); ASSOCIATED WITH genetic disease (ortholog); FOUND IN membrane (inferred) 3 3 3 106204499 106365178 + 112348805 112430321 + 105348992 105496944 + 30032202 103787184 A0A2R9ATL8;A0A2R9ATM8;A0A2R9ATN3 MODEL JARIFH010000004;XM_034957055;XM_055110245;XM_055110246;XM_055110247;XM_055110248;XM_055110249;XM_055110250;XM_055110251;XM_055110252;XM_055110253;XM_055110254;XM_055110255;XM_055110256;XM_055110257;XM_055110258;XM_055110259;XM_055110260;XR_008624796;XR_008624797;XR_008624798;XR_008624799;XR_008624800;XR_008624801;XR_008624802;XR_008624803;XR_008624804;XR_008624805;XR_008624806;XR_008624807;XR_008624808;XR_008624809;XR_008624810;XR_008624811;XR_008624812;XR_008624813;XR_008624814;XR_008624815 XP_054966220;XP_054966221;XP_054966222;XP_054966223;XP_054966224;XP_054966225;XP_054966226;XP_054966227;XP_054966228;XP_054966229;XP_054966230;XP_054966231;XP_054966232;XP_054966233;XP_054966234;XP_054966235 A0A2R9ATN3 HERV-H LTR-associating 2;HERV-H LTR-associating protein 2 APPROVED protein-coding ENSPPAG00000033534 3 112380756 112430321 + 11681931 LOC106635377 60S ribosomal protein L35a-like 12 12 12 63880885 63889431 - 55959415 55967532 - 53356180 53364360 - 106635377 MODEL JARIFH010000013 60S ribosomal protein L35a pseudogene APPROVED pseudo 11681932 LOC100967319 tubulin alpha-4A chain-like 4 4 4 122476936 122493384 - 127752431 127768871 - 116611828 116628274 - 100967319 MODEL JARIFH010000005 tubulin alpha-4A chain pseudogene APPROVED pseudo 11681933 CD80 CD80 molecule ENCODES a protein that exhibits coreceptor activity (inferred); receptor ligand activity (inferred); INVOLVED IN cellular response to lipopolysaccharide (ortholog); positive regulation of alpha-beta T cell proliferation (ortholog); positive regulation of T cell proliferation (ortholog); ASSOCIATED WITH adult T-cell leukemia/lymphoma (ortholog); anti-basement membrane glomerulonephritis (ortholog); asthma (ortholog); FOUND IN cell surface (ortholog); external side of plasma membrane (ortholog) 3 3 3 117506554 117542489 - 123559559 123594870 - 116646590 116683725 - 22301074;30032202 100967832 A0A2R9BU76 MODEL JARIFH010000004;XM_003825146;XM_055110331 XP_003825194;XP_054966306 A0A2R9BU76 T-lymphocyte activation antigen CD80 protein-coding ENSPPAG00000039364 3 123559559 123594870 - 11681944 LOC100969231 zinc finger protein 676-like 19 19 19 25774538 25821641 - 24272045 24289780 - 21352668 21390408 - 30032202 100969231 MODEL JARIFH010000020;XM_034945645 XP_034801536 protein-coding 11681949 LOC100970521 RNA-binding protein 38 14 14 14 21141139 21142033 + 19342581 19343376 + 1289437 1290550 + 22301074;30032202 100970521 MODEL JARIFH010000015;XM_008964111 XP_008962359 protein-coding 11681960 LOC100971571 60S ribosomal protein L34-like 6 6 6 53680221 53701685 + 44194308 44213168 + 42902267 42921112 + 22301074;30032202 100971571 MODEL JARIFH010000007;XM_034963313 XP_034819204 60S ribosomal protein L34 pseudogene APPROVED protein-coding 11681971 LOC100974344 splicing factor 3A subunit 3-like 11 11 11 125400716 125404110 - 122346347 122347875 - 118428933 118431131 - 100974344 MODEL JARIFH010000012 splicing factor 3A subunit 3 pseudogene APPROVED pseudo 11681972 LOC100975202 calmodulin-1-like 7 7 7 108417625 108418297 - 56164048 56164495 - 55853704 55854421 - 100975202 MODEL JARIFH010000008 calmodulin pseudogene;calmodulin-like APPROVED pseudo 11681973 LOC100975324 60S ribosomal protein L9-like 10 10 10 57158629 57159209 - 44593392 44593972 - 41413319 41413899 - 100975324 MODEL JARIFH010000011 60S ribosomal protein L9 pseudogene APPROVED pseudo 11681974 RHOQ ras homolog family member Q ENCODES a protein that exhibits GBD domain binding (ortholog); GTPase activity (ortholog); profilin binding (ortholog); INVOLVED IN cellular response to insulin stimulus (ortholog); cortical actin cytoskeleton organization (ortholog); GTP metabolic process (ortholog); PARTICIPATES IN insulin responsive facilitative sugar transporter mediated glucose transport pathway; insulin signaling pathway; Rho/Rac/Cdc42 mediated signaling pathway; ASSOCIATED WITH Experimental Liver Cirrhosis (ortholog); genetic disease (ortholog); Lynch syndrome (ortholog); FOUND IN actin filament (ortholog); membrane raft (ortholog); plasma membrane (ortholog) 2A 2A 2A 79811179 79851851 - 47589343 47629200 + 46657884 46698604 + 22301074;30032202 100976495 MODEL JARIFH010000002;XM_003822660 XP_003822708 rho-related GTP-binding protein RhoQ protein-coding 11681994 LOC100978496 RNA-binding protein NOB1-like 4 4 4 136825196 136829221 + 142236704 142238091 + 130918803 130920121 + 100978496 MODEL JARIFH010000005;XR_157205 RNA-binding protein NOB1 pseudogene APPROVED pseudo 11681997 SESN3 sestrin 3 INVOLVED IN glucose homeostasis (ortholog); regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (ortholog); response to insulin (ortholog); ASSOCIATED WITH ataxia telangiectasia (ortholog); genetic disease (ortholog); intellectual disability (ortholog); FOUND IN GATOR2 complex (ortholog) 11 11 11 97116421 97183065 - 93707191 93773762 - 90184571 90249825 - 22301074;30032202 100979216 A0A2R8ZUF9;A0A2R8ZVM4;A0A2R8ZXT5 MODEL JARIFH010000012;XM_003828412;XM_055094770 XP_003828460;XP_054950745 A0A2R8ZXT5 sestrin-3 protein-coding ENSPPAG00000027541 11 93714916 93773679 - 11682014 BTNL10P Butyrophilin-like protein 10 ASSOCIATED WITH gastrointestinal stromal tumor (ortholog); parathyroid carcinoma (ortholog) 1 1 1 21032612 21036352 + 209122014 209123939 - 203912276 203914201 - 100979503 MODEL JARIFH010000001;XM_003804788;XR_008622249 BTNL10 butyrophilin like 10 APPROVED pseudo 11682020 TRIM32 tripartite motif containing 32 ENCODES a protein that exhibits identical protein binding (inferred); metal ion binding (inferred); myosin binding (inferred); INVOLVED IN actin ubiquitination (ortholog); axon development (ortholog); muscle cell cellular homeostasis (ortholog); ASSOCIATED WITH autosomal recessive limb-girdle muscular dystrophy (ortholog); autosomal recessive limb-girdle muscular dystrophy type 2H (ortholog); Bardet-Biedl syndrome (ortholog); FOUND IN cytoplasm (inferred); nucleus (inferred); striated muscle myosin thick filament (inferred) 9 9 9 22647147 22660624 - 116173546 116187300 + 87819723 87838684 + 22301074 100979593 A0A2R8ZPX3 MODEL JARIFH010000010;XM_003833083;XM_008958596;XM_008958597;XM_008958599;XM_008958601;XM_034928934;XM_034928935;XM_034928936;XM_055117704;XM_055117705;XM_055117707 XP_003833131;XP_008956844;XP_008956845;XP_008956847;XP_008956849;XP_054973679;XP_054973680;XP_054973682 A0A2R8ZPX3 E3 ubiquitin-protein ligase TRIM32 protein-coding ENSPPAG00000026037 9 116183746 116185707 + 11682049 NSUN6 NOP2/Sun RNA methyltransferase 6 ENCODES a protein that exhibits methyltransferase activity (inferred); RNA binding (inferred); S-adenosylmethionine-dependent methyltransferase activity (inferred); INVOLVED IN methylation (inferred); RNA methylation (inferred); tRNA C5-cytosine methylation (inferred); ASSOCIATED WITH Breast Neoplasms (ortholog); cardiomyopathy (ortholog); genetic disease (ortholog); FOUND IN cytoplasm (inferred) 10 10 10 31362641 31509101 - 19196248 19304089 - 18864484 18978297 - 22301074;30032202 100980371 A0A2R9CEG7 MODEL JARIFH010000011;XM_003811444;XM_024930300;XM_034930066;XM_055092453;XM_055092454;XM_055092455;XM_055092456;XM_055092457;XR_004664538 XP_003811492;XP_024786068;XP_054948428;XP_054948429;XP_054948430;XP_054948431;XP_054948432 A0A2R9CEG7 LOC117974517 NOP2/Sun RNA methyltransferase family member 6;histone-lysine N-methyltransferase SETMAR-like;putative methyltransferase NSUN6;tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 PROVISIONAL protein-coding ENSPPAG00000042405 10 19199642 19304089 - 11682072 FASTKD1 FAST kinase domains 1 INVOLVED IN mitochondrial RNA metabolic process (inferred); regulation of mitochondrial mRNA stability (inferred); ASSOCIATED WITH genetic disease (ortholog); Glaucoma 1, Open Angle, B (ortholog); FOUND IN mitochondrion (inferred) 2B 2B 2B 72203042 72247375 - 174267757 174312363 - 56798465 56843962 - 22301074;30032202 100981130 A0A2R9B1V3;A0A2R9B1V7 MODEL JARIFH010000003;XM_003824297;XM_003824298;XM_024927808;XM_024927809;XM_024927810;XM_024927811;XM_034954445;XM_034954447;XM_055108734;XM_055108735;XM_057301429;XM_057301430;XR_008624534 XP_003824345;XP_024783576;XP_024783579;XP_034810336;XP_034810338;XP_054964709;XP_054964710;XP_057157412;XP_057157413 A0A2R9B1V3 FAST kinase domain-containing protein 1;FAST kinase domain-containing protein 1, mitochondrial protein-coding ENSPPAG00000033920 2B 174267757 174312363 - 11682094 MFSD6L major facilitator superfamily domain containing 6 like ASSOCIATED WITH genetic disease (ortholog); FOUND IN membrane (inferred) 17 17 17 69758800 69761687 + 47588503 47590622 + 42855071 42857267 + 30032202 100981308 A0A2R8ZHW7 MODEL JARIFH010000018;XM_003818080 XP_003818128 A0A2R8ZHW7 major facilitator superfamily domain-containing protein 6-like protein-coding ENSPPAG00000018289 17 47588612 47590372 + 11682099 RBM10 RNA binding motif protein 10 ENCODES a protein that exhibits single-stranded RNA binding (ortholog); INVOLVED IN 3'-UTR-mediated mRNA stabilization (ortholog); cardiac muscle cell myoblast differentiation (ortholog); mRNA stabilization (ortholog); ASSOCIATED WITH autistic disorder (ortholog); Cardiomegaly (ortholog); colorectal cancer (ortholog); FOUND IN nucleolus (ortholog); nucleus (ortholog) X X X 48776537 48817658 + 47440586 47481418 + 39582480 39623749 + 22301074;30032202 100982358 A0A2R9C1M9;A0A2R9C255;A0A2R9C265 MODEL JARIFH010000024;XM_003809667;XM_008961945;XM_008961946;XM_008961947;XM_034950649;XM_034950650;XM_034950651;XM_034950652 XP_003809715;XP_008960193;XP_008960194;XP_008960195 A0A2R9C255 RNA-binding protein 10 protein-coding ENSPPAG00000040583 X 47440815 47481204 + 11682135 IL10RA interleukin 10 receptor subunit alpha ENCODES a protein that exhibits interleukin-10 binding (ortholog); interleukin-10 receptor activity (ortholog); INVOLVED IN regulation of synapse organization (ortholog); response to lipopolysaccharide (ortholog); PARTICIPATES IN Interleukin-10 signaling pathway; ASSOCIATED WITH CD3epsilon deficiency (ortholog); Chromosome 11, Partial Trisomy 11q (ortholog); COVID-19 (ortholog); FOUND IN apical plasma membrane (ortholog) 11 11 11 119791876 119807051 + 116752619 116767771 + 112820445 112835603 + 22301074 100982658 A0A2R9ANB8 MODEL JARIFH010000012;XM_003820063;XM_024930884 XP_003820111;XP_024786652 A0A2R9ANB8 interleukin-10 receptor subunit alpha protein-coding ENSPPAG00000032589 11 116752619 116767771 + 11682146 RPA4 replication protein A4 INVOLVED IN DNA damage checkpoint signaling (ortholog); DNA repair (ortholog); nuclear DNA replication (ortholog); PARTICIPATES IN mismatch repair pathway; nucleotide excision repair pathway; ASSOCIATED WITH autistic disorder (ortholog); developmental and epileptic encephalopathy 9 (ortholog); genetic disease (ortholog); FOUND IN DNA replication factor A complex (ortholog); nucleoplasm (ortholog); nucleus (ortholog) X X X 96504771 96507999 + 96266919 96268456 + 86114330 86116687 + 22301074;30032202 100982694 MODEL JARIFH010000024;XM_003810382 XP_003810430 replication protein A 30 kDa subunit protein-coding 11682152 RNF6 ring finger protein 6 ENCODES a protein that exhibits DNA binding (ortholog); ubiquitin protein ligase activity (ortholog); INVOLVED IN axon extension (ortholog); negative regulation of axon extension (ortholog); positive regulation of DNA-templated transcription (ortholog); ASSOCIATED WITH esophageal cancer (ortholog); Esophageal Neoplasms (ortholog); esophagus squamous cell carcinoma (ortholog); FOUND IN axon (ortholog); PML body (ortholog) 13 13 13 16920266 16930612 - 25774228 25865087 - 7505669 7515542 - 30032202 100984792 A0A2R9B7B4;A0A2R9BER7 MODEL JARIFH010000014;XM_003818347;XM_003818348;XM_003818349;XM_008971626;XM_055096570;XM_055096571;XM_055096572;XM_055096573;XM_055096574;XM_055096575 XP_003818395;XP_003818396;XP_003818397;XP_008969874;XP_054952545;XP_054952546;XP_054952547;XP_054952548;XP_054952549;XP_054952550 A0A2R9B7B4 E3 ubiquitin-protein ligase RNF6 protein-coding ENSPPAG00000035870 13 25854765 25864629 - 11682176 PLEKHD1 pleckstrin homology and coiled-coil domain containing D1 ASSOCIATED WITH Breast Neoplasms (ortholog); genetic disease (ortholog) 14 14 14 69826043 69872573 + 68952074 68996526 + 50079139 50125677 + 100984831 A0A2R9BG47 MODEL JARIFH010000015;XM_003824100 XP_003824148 A0A2R9BG47 pleckstrin homology domain-containing family D member 1 protein-coding ENSPPAG00000037159 14 68952074 68996526 + 11682193 RBM11 RNA binding motif protein 11 ENCODES a protein that exhibits nucleic acid binding (inferred); poly(U) RNA binding (inferred); protein homodimerization activity (inferred); INVOLVED IN cellular response to oxidative stress (ortholog); regulation of alternative mRNA splicing, via spliceosome (ortholog); ASSOCIATED WITH Alzheimer's disease (ortholog); genetic disease (ortholog); Neurodevelopmental Disorders (ortholog); FOUND IN nuclear speck (inferred); nucleoplasm (inferred); nucleus (inferred) 21 21 21 5526875 5538726 + 14309922 14322142 + 942533 954775 + 30032202 100985324 A0A2R9BHS4 MODEL JARIFH010000022;XM_003819188;XM_008972541;XM_034947959;XR_003026569 XP_003819236;XP_008970789 A0A2R9BHS4 splicing regulator RBM11 protein-coding ENSPPAG00000037461 21 14309883 14322142 + 11682210 TBC1D31 TBC1 domain family member 31 ENCODES a protein that exhibits molecular adaptor activity (inferred); INVOLVED IN cell projection organization (inferred); cilium assembly (inferred); ASSOCIATED WITH genetic disease (ortholog); trichorhinophalangeal syndrome type I (ortholog); FOUND IN cell projection (inferred); centriolar satellite (inferred); centrosome (inferred) 8 8 8 115984104 116107027 + 122521713 122601373 + 119736332 119859216 + 22301074;30032202 100986236 A0A2R9A1C1;A0A2R9A1C6;A0A2R9A1D6;A0A2R9A2J3;A0A2R9A5R0;A0A2R9A5U0;A0A2R9A5U5 MODEL JARIFH010000009;XM_003820487;XM_008973939;XM_008973940;XM_034966545;XM_034966546;XM_034966547;XM_034966548;XM_034966549;XM_034966550;XM_034966551;XM_034966552;XM_034966553;XM_034966554;XM_034966555;XM_034966556;XM_034966557;XM_034966558;XM_055116895;XM_055116896;XM_055116898;XM_055116899 XP_003820535;XP_008972187;XP_034822437;XP_034822438;XP_034822439;XP_034822440;XP_034822441;XP_034822442;XP_034822446;XP_054972870;XP_054972871;XP_054972873;XP_054972874 A0A2R9A1C1 WDR67 WD repeat domain 67 protein-coding ENSPPAG00000028732 8 122521780 122601373 + 11682247 RAB11A RAB11A, member RAS oncogene family ENCODES a protein that exhibits GTP binding (ortholog); GTPase activity (ortholog); protein domain specific binding (ortholog); INVOLVED IN melanosome transport (ortholog); neurotransmitter receptor transport, endosome to postsynaptic membrane (ortholog); positive regulation of protein localization to plasma membrane (ortholog); PARTICIPATES IN autophagy pathway; eicosanoid signaling pathway; insulin responsive facilitative sugar transporter mediated glucose transport pathway; ASSOCIATED WITH Bloom syndrome (ortholog); Chloracne (ortholog); colorectal cancer (ortholog); FOUND IN centriole (ortholog); centrosome (ortholog); cytoplasm (ortholog) 15 15 15 59288585 59308848 + 63088084 63108077 + 44810880 44833438 + 22301074;30032202 100986633 A0A2R9AFE7 MODEL JARIFH010000016;XM_003827987 XP_003828035 A0A2R9AFE7 ras-related protein Rab-11A protein-coding ENSPPAG00000030195 15 63088084 63108077 + 11682256 ARHGEF39 Rho guanine nucleotide exchange factor 39 ENCODES a protein that exhibits guanyl-nucleotide exchange factor activity (inferred); INVOLVED IN positive regulation of cell migration (inferred); ASSOCIATED WITH acromesomelic dysplasia, Maroteaux type (ortholog); anauxetic dysplasia (ortholog); distal arthrogryposis type 1A (ortholog); FOUND IN plasma membrane (inferred) 9 9 9 88926669 88934538 + 36313296 36319732 - 35510876 35517299 - 22301074;30032202 100987313 A0A2R9AUU9 MODEL JARIFH010000010;XM_024930207;XM_024930208;XM_034967394;XM_034967395;XM_034967396;XM_034967397;XM_055092054;XR_003028860;XR_004673282;XR_008619735;XR_008619736;XR_008619737 XP_024785975;XP_024785976;XP_034823285;XP_034823286;XP_034823287;XP_034823288;XP_054948029 A0A2R9AUU9 vav-like protein C9orf100-like protein-coding ENSPPAG00000033772 9 36313296 36319732 - 11682278 ADAM30 ADAM metallopeptidase domain 30 ENCODES a protein that exhibits metal ion binding (inferred); metalloendopeptidase activity (inferred); metallopeptidase activity (inferred); INVOLVED IN proteolysis (inferred); ASSOCIATED WITH genetic disease (ortholog); Hajdu-Cheney syndrome (ortholog); PHGDH deficiency (ortholog); FOUND IN external side of plasma membrane (ortholog); sperm head plasma membrane (ortholog) 1 1 1 112138361 112144504 - 117628391 117631178 + 82630734 82633448 + 22301074;30032202 100987814 A0A2R9A885 MODEL JARIFH010000001;XM_003806308 XP_003806356 A0A2R9A885 disintegrin and metalloproteinase domain-containing protein 30 protein-coding ENSPPAG00000029925 1 117628573 117631026 + 11682283 USP25 ubiquitin specific peptidase 25 ENCODES a protein that exhibits ATPase binding (inferred); cysteine-type deubiquitinase activity (inferred); SUMO binding (inferred); INVOLVED IN immune response (ortholog); interleukin-17-mediated signaling pathway (ortholog); mRNA metabolic process (ortholog); ASSOCIATED WITH Alzheimer's disease (ortholog); genetic disease (ortholog); Neurodevelopmental Disorders (ortholog); FOUND IN cytosol (inferred); endoplasmic reticulum (inferred) 21 21 21 7053528 7201118 + 15834158 15982182 + 2468993 2618200 + 22301074;30032202 100989025 A0A2R9BV93;A0A2R9BVF7;A0A2R9BVY5;A0A2R9BYP4;A0A2R9BYT7;A0A2R9BYV0;A0A2R9C547 MODEL JARIFH010000022;XM_024927004;XM_024927006;XM_034948000;XM_034948001;XM_034948002;XM_034948004;XM_055105277 XP_024782772;XP_024782774;XP_034803891;XP_034803892;XP_034803893;XP_054961252 A0A2R9BVY5 ubiquitin carboxyl-terminal hydrolase 25 protein-coding ENSPPAG00000039659 21 15724729 15982182 + 11682314 GYS1 glycogen synthase 1 ENCODES a protein that exhibits glucose binding (ortholog); glycogen (starch) synthase activity (ortholog); INVOLVED IN glycogen biosynthetic process (ortholog); glycogen metabolic process (ortholog); heart development (ortholog); PARTICIPATES IN glycogen biosynthetic pathway; insulin responsive facilitative sugar transporter mediated glucose transport pathway; ASSOCIATED WITH abdominal aortic aneurysm (ortholog); cardiovascular system disease (ortholog); genetic disease (ortholog); FOUND IN cytosol (ortholog) 19 19 19 57000160 57025295 - 54761479 54786726 + 45970127 45995269 - 22301074;30032202 100990031 A0A2R9BUD2;A0A2R9BUZ0;A0A2R9C3Z5 MODEL JARIFH010000020;XM_003814289;XM_008966909 XP_003814337;XP_008965157 A0A2R9BUZ0 glycogen [starch] synthase, muscle protein-coding ENSPPAG00000039489 19 54761479 54786726 + 11682338 SAMD8 sterile alpha motif domain containing 8 ENCODES a protein that exhibits ceramide phosphoethanolamine synthase activity (inferred); phosphotransferase activity, for other substituted phosphate groups (inferred); transferase activity (inferred); INVOLVED IN ceramide biosynthetic process (ortholog); ceramide phosphoethanolamine biosynthetic process (ortholog); ASSOCIATED WITH genetic disease (ortholog); Genitopatellar Syndrome (ortholog); FOUND IN cytosol (inferred); endoplasmic reticulum (inferred); endoplasmic reticulum membrane (inferred) 10 10 10 87273377 87343883 + 74292923 74374307 + 71640271 71710674 + 22301074;30032202 100990239 A0A2R9B5N5;A0A2R9B5P3 MODEL JARIFH010000011;XM_008965559;XM_008965560;XM_034930893 XP_008963807;XP_008963808;XP_034786784 A0A2R9B5N5 sphingomyelin synthase-related protein 1 protein-coding ENSPPAG00000034932 10 74304676 74369601 + 11682356 B3GALT4 beta-1,3-galactosyltransferase 4 ENCODES a protein that exhibits glycosyltransferase activity (inferred); hexosyltransferase activity (inferred); transferase activity (inferred); INVOLVED IN ganglioside biosynthetic process (inferred); protein glycosylation (inferred); ASSOCIATED WITH autosomal dominant intellectual developmental disorder 5 (ortholog); genetic disease (ortholog); JMP syndrome (ortholog); FOUND IN Golgi apparatus (inferred); Golgi membrane (inferred); membrane (inferred) 6 6 6 43626600 43628327 + 33963517 33965245 + 32849358 32857140 + 22301074;30032202 100990558 A0A2R9BZZ2 MODEL JARIFH010000007;XM_008960654 XP_008958902 A0A2R9BZZ2 protein-coding ENSPPAG00000040442 6 33962718 33964976 + 11682361 ATOSA atos homolog A ASSOCIATED WITH Bloom syndrome (ortholog); colorectal cancer (ortholog); genetic disease (ortholog); FOUND IN nucleus (inferred) 15 15 15 45998168 46096600 - 49848026 49944922 - 31522297 31620560 - 100990692 A0A2R9BAS3;A0A2R9BIL9;A0A2R9BIM4 MODEL JARIFH010000016;XM_003827847;XM_003827849;XM_034938777;XM_034938778;XM_034938779;XM_034938780;XM_057299943;XR_004666519;XR_608757 XP_003827895;XP_003827897;XP_034794668;XP_034794669;XP_034794670;XP_034794671;XP_057155926 A0A2R9BIM4 FAM214A atos homolog protein A;family with sequence similarity 214 member A APPROVED protein-coding ENSPPAG00000036434 15 49848026 49944808 - 11682385 EID1 EP300 interacting inhibitor of differentiation 1 ENCODES a protein that exhibits histone acetyltransferase binding (ortholog); transcription corepressor activity (ortholog); INVOLVED IN cell differentiation (ortholog); negative regulation of DNA-templated transcription (ortholog); negative regulation of transcription by RNA polymerase II (ortholog); ASSOCIATED WITH Bloom syndrome (ortholog); colorectal cancer (ortholog); genetic disease (ortholog); FOUND IN cytoplasmic ribonucleoprotein granule (ortholog); nucleoplasm (ortholog) 15 15 15 42303384 42305107 + 46150806 46153017 + 27827790 27829493 + 30032202 100991371 MODEL JARIFH010000016;XM_003831488 XP_003831536 EP300-interacting inhibitor of differentiation 1 protein-coding 11682390 LOC100991816 talanin 10 10 10 74846646 74868878 + 61484921 61513914 + 59167964 59185418 + 100991816 A0A2R8ZR04;A0A2R8ZR09 MODEL JARIFH010000011;XM_034930649 XP_034786540 A0A2R8ZR09 talanin-like APPROVED protein-coding ENSPPAG00000026642 11682400 STK35 serine/threonine kinase 35 ENCODES a protein that exhibits ATP binding (inferred); nucleotide binding (inferred); protein kinase activity (inferred); INVOLVED IN autophagy (inferred); ASSOCIATED WITH genetic disease (ortholog); Huntington's disease-like 1 (ortholog); pantothenate kinase-associated neurodegeneration (ortholog); FOUND IN nuclear body (inferred); nucleoplasm (inferred) 20 20 20 3088818 3171798 + 1981355 2028741 + 2214815 2292341 + 22301074;30032202 100993836 A0A2R9AM32 MODEL JARIFH010000021;XM_003821279;XM_034947331;XR_004668244 XP_003821327;XP_034803222 A0A2R9AM32 serine/threonine-protein kinase 35 protein-coding ENSPPAG00000031479 20 1981730 1997556 + 11682408 CCPG1 cell cycle progression 1 INVOLVED IN positive regulation of transcription by RNA polymerase II (ortholog); ASSOCIATED WITH Bloom syndrome (ortholog); colorectal cancer (ortholog); developmental and epileptic encephalopathy 80 (ortholog); FOUND IN membrane (inferred) 15 15 15 48792753 48856152 - 52647392 52704329 - 34324670 34382141 - 30032202 100994908 A0A2R9C629;A0A2R9C6E3;A0A2R9C8T9 MODEL JARIFH010000016;XM_003827857;XM_034938784;XM_034938785;XM_034938786;XM_034938788;XM_034938789;XM_034938790;XM_055098530;XM_055098531 XP_003827905;XP_054954505;XP_054954506 A0A2R9C6E3 cell cycle progression protein 1 protein-coding ENSPPAG00000041408 15 52647392 52701880 - 11682427 VAMP4 vesicle associated membrane protein 4 INVOLVED IN cellular response to type II interferon (ortholog); Golgi to plasma membrane protein transport (ortholog); regulation of Golgi to plasma membrane protein transport (ortholog); ASSOCIATED WITH 1q24 Deletion Syndrome (ortholog); autoimmune lymphoproliferative syndrome (ortholog); gastrointestinal stromal tumor (ortholog); FOUND IN phagocytic vesicle (ortholog); presynaptic endosome membrane (ortholog); SNARE complex (ortholog) 1 1 1 77687698 77732898 + 150903134 150944815 - 147192001 147233945 - 22301074;30032202 100995005 A0A2R9A3T0 MODEL JARIFH010000001;XM_003824657;XM_008978302;XR_008625177;XR_612892 XP_003824705 A0A2R9A3T0 vesicle-associated membrane protein 4 protein-coding ENSPPAG00000028975 1 150903134 150944815 - 11682445 TXNL4A thioredoxin like 4A INVOLVED IN mRNA processing (inferred); mRNA splicing, via spliceosome (inferred); RNA splicing (inferred); PARTICIPATES IN spliceosome pathway; ASSOCIATED WITH Burn-McKeown syndrome (ortholog); chromosome 18q deletion syndrome (ortholog); genetic disease (ortholog); FOUND IN cytoplasm (ortholog); U4/U6 x U5 tri-snRNP complex (ortholog) 18 18 18 83302072 83363366 - 76937460 76952428 - 73618302 73679603 - 22301074;30032202 100995317 A0A2R9B0Y0;A0A2R9B0Z1;A0A2R9B3Q5;A0A2R9B634 MODEL JARIFH010000019;XM_003805196;XM_014342378;XM_034943427;XM_055102528 XP_003805244;XP_014197864;XP_034799318;XP_054958503 A0A2R9B0Y0 thioredoxin-like protein 4A protein-coding ENSPPAG00000034563 18 76937460 76952428 - 11682458 ALS2CL ALS2 C-terminal like ENCODES a protein that exhibits guanyl-nucleotide exchange factor activity (ortholog); small GTPase binding (ortholog); INVOLVED IN protein localization (ortholog); ASSOCIATED WITH genetic disease (ortholog); Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy (ortholog); schizophrenia (ortholog); FOUND IN cytoplasmic vesicle (ortholog) 3 3 3 46630748 46653872 - 47671265 47695772 - 46568200 46591331 - 100995984 A0A2R9A6A0 MODEL JARIFH010000004;XM_003818451;XM_057301714;XR_004670537;XR_004670538;XR_004670539;XR_004670540;XR_004670541 XP_057157697 A0A2R9A6A0 ALS2 C-terminal-like protein-like protein-coding ENSPPAG00000029581 3 47671286 47695772 - 11682521 LOC103783836 uncharacterized LOC103783836 14 14 14 61943433 62000407 - 60413599 60427654 - 42155723 42253890 - 103783836 MODEL JARIFH010000015;XR_004666204;XR_004666205 ncrna 11682535 LOC103785083 uncharacterized LOC103785083 22 22 58583215 58588067 + 45117973 45126521 + 103785083 MODEL JARIFH010000023;XR_004669396;XR_610785;XR_610786 ncrna 11682565 LOC103786605 uncharacterized LOC103786605 22 22 22 47363140 47634174 - 33750580 33850359 - 15876059 16003788 - 103786605 MODEL JARIFH010000023;XR_004668609;XR_008622627;XR_008622628;XR_008622629;XR_008622630;XR_612342 ncrna ENSPPAG00000044284 11682571 LOC106634006 60S ribosomal protein L36a-like ENCODES a protein that exhibits structural constituent of ribosome (inferred); INVOLVED IN translation (inferred); FOUND IN ribosome (inferred) 17 17 17 96201010 96201579 + 74838187 74838559 + 69285415 69286011 + 22301074;30032202 106634006 A0A2R8Z5R2 MODEL JARIFH010000018;XM_014342227 XP_014197713 A0A2R8Z5R2 protein-coding ENSPPAG00000000113 11682575 LOC106635380 keratin, type II cytoskeletal 8-like 12 12 12 76718503 76722728 + 68999382 69000837 + 66216965 66219195 + 106635380 MODEL JARIFH010000013 keratin, type II cytoskeletal 8 pseudogene APPROVED pseudo 11682576 PUS10 pseudouridine synthase 10 ENCODES a protein that exhibits isomerase activity (inferred); primary miRNA binding (inferred); pseudouridine synthase activity (inferred); INVOLVED IN primary miRNA processing (inferred); pseudouridine synthesis (inferred); RNA modification (inferred); ASSOCIATED WITH genetic disease (ortholog); peroxisome biogenesis disorder 11A (ortholog); peroxisome biogenesis disorder 1A (ortholog); FOUND IN cytoplasm (inferred); nucleus (inferred) 2A 2A 2A 65363878 65440974 + 62171933 62252283 - 61031606 61108770 - 22301074;30032202 100968234 A0A2R8ZQ34;A0A2R8ZRA9;A0A2R8ZVY3;A0A2R8ZVY8 MODEL JARIFH010000002;XM_008956285;XM_034953209;XM_055108362;XM_055108363;XM_055108364;XM_055108365;XM_057301368 XP_008954533;XP_034809100;XP_054964337;XP_054964338;XP_054964339;XP_054964340;XP_057157351 A0A2R8ZVY3 pseudouridylate synthase 10;putative tRNA pseudouridine synthase Pus10;tRNA pseudouridine synthase Pus10 APPROVED protein-coding ENSPPAG00000026137 2A 62171933 62252283 - 11682607 PRAC2 PRAC2 small nuclear protein ASSOCIATED WITH genetic disease (ortholog) 17 17 17 18343517 18345089 - 8998223 8999806 - 8811987 8813558 - 100968664 MODEL JARIFH010000018;XM_003827509;XM_008952859;XM_057300218 XP_003827557;XP_057156201 prostate cancer susceptibility candidate 2;putative protein PRAC2;putative protein PRCA2 APPROVED protein-coding 11682616 PTPRN protein tyrosine phosphatase receptor type N ENCODES a protein that exhibits GTPase binding (ortholog); protein tyrosine phosphatase activity (ortholog); INVOLVED IN cytokine-mediated signaling pathway (ortholog); insulin secretion involved in cellular response to glucose stimulus (ortholog); luteinization (ortholog); ASSOCIATED WITH alacrima, achalasia, and impaired intellectual development syndrome (ortholog); cerebrotendinous xanthomatosis (ortholog); distal spinal muscular atrophy type 5 (ortholog); FOUND IN axon terminus (ortholog); endosome (ortholog); Golgi apparatus (ortholog) 2B 2B 2B 121934995 121954893 - 225138283 225158118 - 106547156 106567056 - 22301074;30032202 100968828 A0A2R9C3Q6;A0A2R9C492 MODEL JARIFH010000003;XM_034955197;XM_034955198;XM_034955199;XM_034955200;XM_034955201;XM_034955203;XM_034955204;XM_034955205;XM_034955206;XM_034955207;XM_034955208;XM_034955209;XM_034955210;XM_055109129;XM_055109130;XM_055109131 XP_034811095;XP_034811098;XP_034811101;XP_054965104;XP_054965105;XP_054965106 A0A2R9C492 receptor-type tyrosine-protein phosphatase-like N APPROVED protein-coding ENSPPAG00000041023 2B 225138887 225206700 - 11682643 EMX2 empty spiracles homeobox 2 ENCODES a protein that exhibits DNA binding (inferred); DNA-binding transcription factor activity, RNA polymerase II-specific (inferred); sequence-specific double-stranded DNA binding (inferred); INVOLVED IN anterior/posterior pattern specification (ortholog); brain development (ortholog); cell proliferation in forebrain (ortholog); ASSOCIATED WITH colorectal adenocarcinoma (ortholog); colorectal cancer (ortholog); epilepsy (ortholog); FOUND IN nucleus (inferred) 10 10 10 129417530 129424956 + 117551451 117557972 + 114124759 114132109 + 22301074;30032202 100968991 A0A2R8ZZQ7;A0A2R9A2P6 MODEL JARIFH010000011;XM_003825633;XM_008950964 XP_003825681;XP_008949212 A0A2R9A2P6 homeobox protein EMX2 protein-coding ENSPPAG00000028273 10 117551451 117557972 + 11682652 SMCR8 SMCR8-C9orf72 complex subunit ENCODES a protein that exhibits guanyl-nucleotide exchange factor activity (ortholog); INVOLVED IN negative regulation of autophagosome assembly (inferred); negative regulation of gene expression (inferred); negative regulation of macroautophagy (inferred); ASSOCIATED WITH autistic disorder (ortholog); common variable immunodeficiency 2 (ortholog); genetic disease (ortholog); FOUND IN Atg1/ULK1 kinase complex (ortholog); guanyl-nucleotide exchange factor complex (ortholog) 17 17 17 57651042 57663823 - 37884037 37897031 - 32858205 32871132 + 22301074;30032202 100969931 A0A2R8ZPV0 MODEL JARIFH010000018;XM_003809775 XP_003809823 A0A2R8ZPV0 Smith-Magenis syndrome chromosome region, candidate 8;guanine nucleotide exchange protein SMCR8 APPROVED protein-coding ENSPPAG00000024196 17 37884037 37896972 - 11682658 BNIP3 BCL2 interacting protein 3 ENCODES a protein that exhibits GTPase binding (ortholog); identical protein binding (ortholog); protein homodimerization activity (ortholog); INVOLVED IN autophagic cell death (ortholog); brown fat cell differentiation (ortholog); cardiac muscle cell apoptotic process (ortholog); PARTICIPATES IN hypoxia inducible factor pathway; intrinsic apoptotic pathway; mitochondrial autophagy pathway; ASSOCIATED WITH Chronic Intermittent Hypoxia (ortholog); chronic obstructive pulmonary disease (ortholog); congestive heart failure (ortholog); FOUND IN cytoplasm (ortholog); dendrite (ortholog); mitochondrial outer membrane (ortholog) 10 10 10 143929948 143944284 - 132857375 132871628 - 128671663 128685952 - 22301074;30032202 100970080 A0A2R9CEU1 MODEL JARIFH010000011;XM_014346627 XP_014202113 A0A2R9CEU1 BCL2/adenovirus E1B 19 kDa protein-interacting protein 3 protein-coding ENSPPAG00000042885 10 132858211 132871634 - 11682667 LOC100971467 plasminogen activator inhibitor 1 RNA-binding protein-like 1 1 1 145972445 145973584 + 81429422 81430561 - 79294239 79295468 - 100971467 MODEL JARIFH010000001 plasminogen activator inhibitor 1 RNA-binding protein pseudogene APPROVED pseudo 11682668 CCM2 CCM2 scaffold protein INVOLVED IN blood vessel development (ortholog); blood vessel endothelial cell differentiation (ortholog); cell-cell junction organization (ortholog); PARTICIPATES IN p38 MAPK signaling pathway; ASSOCIATED WITH cavernous hemangioma (ortholog); Central Nervous System Vascular Malformations (ortholog); cerebral cavernous malformation (ortholog); FOUND IN cytoplasm (inferred); mitochondrion (inferred); protein-containing complex (inferred) 7 7 7 98238476 98315074 + 45808339 45856966 + 45714413 45791016 + 30032202 100971928 A0A2R9AVG9;A0A2R9AVP7;A0A2R9AVQ8;A0A2R9AVR7;A0A2R9AZK2;A0A2R9AZK7 MODEL JARIFH010000008;XM_034964052;XM_034964053;XM_034964054;XM_034964055;XM_034964056;XM_034964057 XP_034819943;XP_034819944;XP_034819945;XP_034819946;XP_034819947;XP_034819948 A0A2R9AVP7 APPROVED protein-coding ENSPPAG00000033771 7 45808145 45858828 + 11682681 LOC100972529 olfactory receptor 9G1 ENCODES a protein that exhibits G protein-coupled receptor activity (inferred); olfactory receptor activity (inferred); INVOLVED IN detection of chemical stimulus involved in sensory perception of smell (inferred); G protein-coupled receptor signaling pathway (inferred); sensory perception of smell (inferred); FOUND IN membrane (inferred); plasma membrane (inferred) 11 11 58874670 58879464 + 51943601 51944518 + 22301074;30032202 100972529 A0A2R9AT96 MODEL JARIFH010000012;XM_057299048 XP_057155031 A0A2R9AT96 protein-coding ENSPPAG00000032189 11682682 NFIC nuclear factor I C ENCODES a protein that exhibits cis-regulatory region sequence-specific DNA binding (ortholog); DNA binding (ortholog); double-stranded DNA binding (ortholog); INVOLVED IN negative regulation of DNA-templated transcription (ortholog); negative regulation of transcription by RNA polymerase II (ortholog); odontogenesis of dentin-containing tooth (ortholog); PARTICIPATES IN forkhead class A signaling pathway; ASSOCIATED WITH genetic disease (ortholog); Neurodevelopmental Disorders (ortholog); Prostatic Neoplasms (ortholog); FOUND IN fibrillar center (inferred); nucleoplasm (inferred); nucleus (inferred) 19 19 19 6991414 7099918 + 3340343 3446810 + 2387226 2495475 + 22301074;30032202 100973303 A0A2R9BC01;A0A2R9BC36;A0A2R9BDC4;A0A2R9BFS8;A0A2R9BKC5 MODEL JARIFH010000020;XM_034945086;XM_034945087;XM_034945088;XM_034945089;XM_034945090;XM_034945091 XP_034800977;XP_034800978;XP_034800980;XP_034800982 A0A2R9BFS8 LOC106634059 myosin-K heavy chain-like;nuclear factor 1 C-type PROVISIONAL protein-coding ENSPPAG00000036536 19 3294319 3440417 + 11682697 TEX50 testis expressed 50 ASSOCIATED WITH antithrombin III deficiency (ortholog); FOUND IN membrane (inferred) 1 1 1 75760629 75764782 - 152858370 152860204 + 149153114 149155115 + 100973343 A0A2R9AL09 MODEL JARIFH010000001;XM_003824672 XP_003824720 A0A2R9AL09 LOC100973343 testis-expressed protein 50;uncharacterized LOC100973343;uncharacterized protein LOC100973343 APPROVED protein-coding ENSPPAG00000032153 1 152858593 152860204 + 11682702 CACNA1E calcium voltage-gated channel subunit alpha1 E ENCODES a protein that exhibits voltage-gated calcium channel activity (ortholog); voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels (ortholog); INVOLVED IN behavioral fear response (ortholog); behavioral response to pain (ortholog); calcium ion import (ortholog); PARTICIPATES IN calcium transport pathway; calcium/calcium-mediated signaling pathway; ASSOCIATED WITH 1q24 Deletion Syndrome (ortholog); autosomal recessive chronic granulomatous disease 2 (ortholog); Coma (ortholog); FOUND IN GABA-ergic synapse (ortholog); neuronal cell body (ortholog); perikaryon (ortholog) 1 1 1 67630599 68013823 - 160627210 160957228 + 156796855 157296987 + 22301074;30032202 100973580 A0A2R8ZYS9;A0A2R8ZYV1;A0A2R8ZYW2;A0A2R8ZZU9;A0A2R8ZZW4;A0A2R9A2Z3 MODEL JARIFH010000001;XM_003824731;XM_003824732;XM_034941894;XM_034941896;XM_034941904;XM_034941910;XM_057301979 XP_057157962 A0A2R8ZZU9 voltage-dependent R-type calcium channel subunit alpha-1E protein-coding ENSPPAG00000027818 1 160628089 160949270 + 11682756 SLC35C2 solute carrier family 35 member C2 INVOLVED IN fucosylation (ortholog); negative regulation of gene expression (ortholog); positive regulation of Notch signaling pathway (ortholog); ASSOCIATED WITH focal epilepsy (ortholog); genetic disease (ortholog); FOUND IN cis-Golgi network (inferred); endoplasmic reticulum-Golgi intermediate compartment (inferred); Golgi apparatus (inferred) 20 20 20 52082690 52097270 - 43772037 43786549 - 42686735 42701321 - 30032202 100975150 A0A2R9BG65;A0A2R9BG69 MODEL JARIFH010000021;XM_008951389;XM_008951390;XM_008951391;XM_008951392;XM_008951395;XM_034947217;XM_034947218;XM_055104770;XM_055104771;XR_608374 XP_008949637;XP_008949638;XP_008949639;XP_008949640;XP_034803109;XP_054960745;XP_054960746 A0A2R9BG65 protein-coding ENSPPAG00000037157 20 43772681 43780671 - 11682787 ST13 ST13 Hsp70 interacting protein ENCODES a protein that exhibits dATP binding (ortholog); Hsp70 protein binding (ortholog); identical protein binding (ortholog); INVOLVED IN chaperone cofactor-dependent protein refolding (ortholog); negative regulation of protein refolding (ortholog); response to bacterium (ortholog); PARTICIPATES IN androgen signaling pathway; chaperone mediated autophagy pathway; ASSOCIATED WITH adenylosuccinase lyase deficiency (ortholog); genetic disease (ortholog); Rubinstein-Taybi syndrome (ortholog); FOUND IN protein-containing complex (ortholog) 22 22 22 53355816 53387712 - 39815337 39848049 - 21719713 21751912 - 22301074;30032202 100978466 A0A2R8Z7Y4;A0A2R9C6C0 MODEL JARIFH010000023;XM_003814611 XP_003814659 A0A2R8Z7Y4;A0A2R9C6C0 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) APPROVED protein-coding ENSPPAG00000003665;ENSPPAG00000041426 22 39815337 39848049 - 11682803 RAB40C RAB40C, member RAS oncogene family ENCODES a protein that exhibits GDP binding (ortholog); GTP binding (ortholog); INVOLVED IN intracellular signal transduction (inferred); protein ubiquitination (inferred); ASSOCIATED WITH epilepsy (ortholog); genetic disease (ortholog); idiopathic generalized epilepsy (ortholog); FOUND IN Golgi apparatus (ortholog); lipid droplet (ortholog); perinuclear region of cytoplasm (ortholog) 16 16 4615216 4653206 + 600153 642365 + 22301074;30032202 100979423 A0A2R9AZR8 MODEL JARIFH010000017;XM_014341611;XM_034951520;XM_034951521;XM_034951522;XM_034951524;XM_034951525;XM_055100531;XM_057300136 XP_034807411;XP_034807412;XP_034807413;XP_034807415;XP_034807416;XP_054956506;XP_057156119 A0A2R9AZR8 ras-related protein Rab-40C protein-coding ENSPPAG00000033519 16 606023 640714 + 11682814 HNRNPUL1 heterogeneous nuclear ribonucleoprotein U like 1 ENCODES a protein that exhibits enzyme binding (inferred); ASSOCIATED WITH Carpenter Syndrome 2 (ortholog); congenital hypoplastic anemia (ortholog); craniosynostosis (ortholog); FOUND IN synapse (ortholog) 19 19 19 49340694 49386543 + 46762459 46808377 + 38255183 38300877 + 22301074 100979786 A0A2R9BKV6;A0A2R9BKW7;A0A2R9BLM5;A0A2R9BUQ8;A0A2R9BUR8;A0A2R9BUS2 MODEL JARIFH010000020;XM_003812455;XM_008964868;XM_008964869;XM_034944600;XM_034944601;XM_034944602;XM_034944603;XM_034944604;XM_034944605;XM_034944606 XP_003812503;XP_008963116;XP_008963117;XP_034800491;XP_034800492;XP_034800494;XP_034800495;XP_034800496 A0A2R9BUR8 heterogeneous nuclear ribonucleoprotein U-like protein 1 protein-coding ENSPPAG00000038140 19 46762459 46808374 + 11682846 TSC22D3 TSC22 domain family member 3 ENCODES a protein that exhibits MRF binding (ortholog); INVOLVED IN body fluid secretion (ortholog); negative regulation of activation-induced cell death of T cells (ortholog); negative regulation of skeletal muscle tissue development (ortholog); ASSOCIATED WITH autistic disorder (ortholog); Charcot-Marie-Tooth disease type X (ortholog); COVID-19 (ortholog); FOUND IN cytoplasm (ortholog) X X X 107193129 107257315 - 107179077 107242902 - 96806179 96870020 - 22301074 100980653 A0A2R9BW34;A0A2R9BW52;A0A2R9C5T0 MODEL JARIFH010000024;XM_008973095;XM_008973097;XM_008973098;XM_008973099;XM_034950707;XM_055106244;XM_055106245;XM_057301061 XP_008971343;XP_008971345;XP_008971346;XP_034806598;XP_054962219;XP_054962220;XP_057157044 A0A2R9BW34 TSC22 domain family protein 3 protein-coding ENSPPAG00000039803 X 107179077 107242902 - 11682867 TNFAIP1 TNF alpha induced protein 1 ENCODES a protein that exhibits cyclin binding (ortholog); ubiquitin-protein transferase activity (ortholog); INVOLVED IN positive regulation of DNA replication (ortholog); ASSOCIATED WITH Diabetic Nephropathies (ortholog); genetic disease (ortholog); FOUND IN Cul3-RING ubiquitin ligase complex (inferred); cytoplasm (inferred); endosome (inferred) 17 17 17 37992035 38003328 - 28929788 28941278 - 28427448 28438826 - 22301074;30032202 100980949 A0A2R8ZN02 MODEL JARIFH010000018;XM_003812662 XP_003812710 A0A2R8ZN02 BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 2 protein-coding ENSPPAG00000022135 17 28929788 28941278 - 11682878 ARPC2 actin related protein 2/3 complex subunit 2 ENCODES a protein that exhibits actin filament binding (ortholog); AP-1 adaptor complex binding (ortholog); Arp2/3 complex binding (ortholog); INVOLVED IN cellular response to epidermal growth factor stimulus (ortholog); cellular response to hydrogen peroxide (ortholog); cellular response to nerve growth factor stimulus (ortholog); PARTICIPATES IN insulin responsive facilitative sugar transporter mediated glucose transport pathway; platelet-derived growth factor signaling pathway; Rab family mediated signaling pathway; ASSOCIATED WITH alacrima, achalasia, and impaired intellectual development syndrome (ortholog); cerebrotendinous xanthomatosis (ortholog); colorectal adenocarcinoma (ortholog); FOUND IN actin filament branch point (ortholog); apical dendrite (ortholog); axon terminus (ortholog) 2B 2B 2B 120865788 120901441 + 224076356 224111643 + 105478035 105513665 + 22301074;30032202 100981873 A0A2R9BBC8;A0A2R9BBE1;A0A2R9BDR2 MODEL JARIFH010000003;XM_003818606 XP_003818654 A0A2R9BBE1 actin-related protein 2/3 complex subunit 2 protein-coding ENSPPAG00000036270 2B 224076356 224111643 + 11682893 GPR150 G protein-coupled receptor 150 ASSOCIATED WITH familial adenomatous polyposis 1 (ortholog); genetic disease (ortholog); Hereditary Neoplastic Syndromes (ortholog) 5 5 5 17909737 17915229 - 19872313 19874234 - 19726143 19730943 - 22301074;30032202 100982009 MODEL JARIFH010000006;XM_034959763;XM_057302259 XP_057158242 probable G-protein coupled receptor 150 protein-coding 11682899 LOC100983186 keratin, type II cytoskeletal 2 epidermal-like 12 12 12 41468894 41479283 + 36817246 36827633 + 36039646 36050037 + 30032202 100983186 MODEL JARIFH010000013;XM_024931156;XM_055096491 XP_054952466 keratin, type II cytoskeletal 2 oral-like APPROVED protein-coding 11682911 DPP4 dipeptidyl peptidase 4 ENCODES a protein that exhibits collagen binding (ortholog); dipeptidyl-peptidase activity (ortholog); identical protein binding (ortholog); INVOLVED IN B-1a B cell differentiation (ortholog); behavioral fear response (ortholog); locomotory exploration behavior (ortholog); ASSOCIATED WITH autistic disorder (ortholog); Coronavirus infectious disease (ortholog); esophagus squamous cell carcinoma (ortholog); FOUND IN cell surface (ortholog) 2B 2B 2B 64698715 64781341 - 166654659 166736588 - 49285685 49368056 - 22301074;30032202 100983437 A0A2R9CCY4;A0A2R9CCZ5;A0A2R9CCZ9 MODEL JARIFH010000003;XM_003820939;XM_008974411;XM_057301423 XP_003820987;XP_057157406 A0A2R9CCY4 protein-coding ENSPPAG00000042565 2B 166654659 166736588 - 11682945 MOCS1 molybdenum cofactor synthesis 1 ENCODES a protein that exhibits S-adenosyl-L-methionine binding (ortholog); INVOLVED IN molybdopterin cofactor biosynthetic process (ortholog); PARTICIPATES IN molybdenum cofactor biosynthetic pathway; ASSOCIATED WITH genetic disease (ortholog); intellectual disability (ortholog); molybdenum cofactor deficiency (ortholog); FOUND IN cytosol (inferred); molybdopterin synthase complex (inferred) 6 6 6 50263478 50296374 - 40799858 40829346 - 39489310 39519012 - 22301074;30032202 100984216 A0A2R9CEX6;A0A2R9CEZ9;A0A2R9CHL5 MODEL JARIFH010000007;XM_003833334;XM_014345369;XM_014345370;XM_014345371;XM_055113572 XP_003833382;XP_014200855;XP_014200856;XP_014200857;XP_054969547 A0A2R9CEX6 molybdenum cofactor biosynthesis protein 1 protein-coding ENSPPAG00000042908 6 40799858 40829346 - 11682968 PLA2G4F phospholipase A2 group IVF ENCODES a protein that exhibits calcium ion binding (inferred); calcium-dependent phospholipase A2 activity (inferred); carboxylic ester hydrolase activity (inferred); INVOLVED IN arachidonic acid secretion (ortholog); cellular response to antibiotic (ortholog); cellular response to organic cyclic compound (ortholog); ASSOCIATED WITH Bloom syndrome (ortholog); colorectal cancer (ortholog); genetic disease (ortholog); FOUND IN cytoplasm (inferred); cytosol (inferred); ruffle membrane (inferred) 15 15 15 35536001 35553667 - 39253819 39271482 - 21095474 21110983 - 22301074;30032202 100986585 A0A2R9AYN8;A0A2R9AYX5 MODEL JARIFH010000016;XM_003805612 XP_003805660 A0A2R9AYX5 cytosolic phospholipase A2 zeta protein-coding ENSPPAG00000034388 15 39253819 39271482 - 11682999 RBMS1 RNA binding motif single stranded interacting protein 1 ENCODES a protein that exhibits nucleic acid binding (inferred); RNA binding (inferred); ASSOCIATED WITH autistic disorder (ortholog); genetic disease (ortholog); FOUND IN cytosol (inferred); ribonucleoprotein complex (inferred) 2B 2B 2B 62981697 63200950 - 164939363 165158106 - 47568438 47787601 - 22301074;30032202 100987573 A0A2R9BYA8;A0A2R9BYB1;A0A2R9C8D2 MODEL JARIFH010000003;XM_008974426;XM_008974427;XM_034954372;XM_034954373;XM_034954375;XM_034954376;XM_034954377;XM_055108670 XP_008972674;XP_008972675;XP_034810263;XP_034810264;XP_034810266;XP_034810267;XP_034810268;XP_054964645 A0A2R9BYA8 RNA-binding motif, single-stranded-interacting protein 1 protein-coding ENSPPAG00000040083 2B 164939363 165038851 - 11683036 CREM cAMP responsive element modulator ENCODES a protein that exhibits DNA-binding transcription repressor activity, RNA polymerase II-specific (ortholog); RNA polymerase II cis-regulatory region sequence-specific DNA binding (ortholog); RNA polymerase II transcription regulatory region sequence-specific DNA binding (ortholog); INVOLVED IN circadian regulation of gene expression (ortholog); circadian rhythm (ortholog); fatty acid metabolic process (ortholog); ASSOCIATED WITH allergic contact dermatitis (ortholog); Cardiomegaly (ortholog); Chloracne (ortholog); FOUND IN cytoplasm (ortholog); transcription regulator complex (ortholog) 10 10 10 47773547 47861179 + 35824725 35912432 + 35247426 35335545 + 22301074;30032202 100988448 A0A2R9BBJ5;A0A2R9BBL0;A0A2R9BBM5;A0A2R9BBQ6;A0A2R9BBR0;A0A2R9BD03;A0A2R9BD08;A0A2R9BFD4;A0A2R9BJV5;A0A2R9BJW9;A1YG16;A1YG17 MODEL DQ977200;HM763123;JARIFH010000011;XM_003814783;XM_008967576;XM_008967577;XM_008967579;XM_008967580;XM_008967583;XM_008967584;XM_008967585;XM_008967588;XM_008967591;XM_008967594;XM_008967595;XM_008967596;XM_008967597;XM_008967598;XM_024930339;XM_024930340;XM_024930342;XM_024930343;XM_024930346;XM_024930347;XM_024930348;XM_024930350;XM_034930294;XM_034930295;XM_034930296;XM_034930297;XM_034930298;XM_034930299;XM_034930300;XM_034930301;XM_034930302;XM_034930303;XM_055092634;XM_055092635;XM_055092636;XM_055092637;XM_055092638;XM_055092639;XM_055092640;XM_055092641;XM_055092642;XM_055092643;XM_055092644;XM_055092645;XM_055092646;XM_055092647;XM_055092648;XM_057298846;XM_057298847;XM_057298848;XM_057298849 ABM54241;ABM54242;XP_008965824;XP_008965825;XP_008965827;XP_008965831;XP_008965832;XP_008965836;XP_008965842;XP_008965844;XP_008965845;XP_008965846;XP_024786107;XP_024786110;XP_024786111;XP_034786185;XP_034786186;XP_034786187;XP_034786188;XP_034786189;XP_034786192;XP_034786193;XP_054948609;XP_054948610;XP_054948611;XP_054948612;XP_054948613;XP_054948614;XP_054948615;XP_054948616;XP_054948617;XP_054948618;XP_054948619;XP_054948620;XP_054948621;XP_054948622;XP_054948623;XP_057154829;XP_057154830;XP_057154831;XP_057154832 A0A2R9BD03 cAMP-responsive element modulator protein-coding ENSPPAG00000036551 10 35825218 35912432 + 11683114 LIN37 lin-37 DREAM MuvB core complex component ASSOCIATED WITH Brugada syndrome 5 (ortholog); dystonia (ortholog); genetic disease (ortholog); FOUND IN transcription repressor complex (inferred) 19 19 19 43728143 43734123 + 41412445 41418608 + 32678141 32684305 + 22301074;30032202 100988570 A0A2R9B1A3 MODEL JARIFH010000020;XM_003816117;XM_008969164;XM_034945760 XP_003816165;XP_008967412 A0A2R9B1A3 lin-37 homolog;protein lin-37 homolog protein-coding ENSPPAG00000034832 19 41412809 41418563 + 11683130 IL24 interleukin 24 INVOLVED IN cellular response to interleukin-4 (ortholog); cellular response to lipopolysaccharide (ortholog); negative regulation of apoptotic process (ortholog); PARTICIPATES IN interleukin-23 signaling pathway; ASSOCIATED WITH autistic disorder (ortholog); Breast Neoplasms (ortholog); common variable immunodeficiency 7 (ortholog); FOUND IN endoplasmic reticulum (ortholog); extracellular space (ortholog) 1 1 1 42436439 42443132 - 186779207 186785928 + 182500680 182507098 + 100988832 A0A2R9B9T4;A0A2R9BHI7 MODEL JARIFH010000001;XM_003822913;XM_003822914;XM_008976520;XM_008976521 XP_003822961;XP_003822962;XP_008974768 A0A2R9BHI7 interleukin-24 protein-coding ENSPPAG00000036282 1 186779207 186785928 + 11683152 LOC100989945 uncharacterized LOC100989945 16 2A 16 40367216 40368734 - 37727521 37728226 - 22721128 22721844 - 100989945 MODEL JARIFH010000017 pseudo 11683153 SYNPO2 synaptopodin 2 ENCODES a protein that exhibits 14-3-3 protein binding (ortholog); muscle alpha-actinin binding (ortholog); protein-macromolecule adaptor activity (ortholog); INVOLVED IN autophagosome assembly (ortholog); chaperone-mediated autophagy (ortholog); positive regulation of actin filament bundle assembly (ortholog); ASSOCIATED WITH genetic disease (ortholog); Neurodevelopmental Disorders (ortholog); ovarian carcinoma (ortholog); FOUND IN nucleus (ortholog); vesicle tethering complex (ortholog) 4 4 4 116930410 117167109 + 121596427 121806647 + 111045007 111280880 + 30032202 100990359 A0A2R9B2D0;A0A2R9B2K2;A0A2R9B6B2;A0A2R9B6B7 MODEL JARIFH010000005;XM_003830051;XM_008955432;XM_008955433;XM_014344716;XM_014344717;XM_034959067;XM_034959068 XP_003830099;XP_008953680;XP_014200202;XP_014200203;XP_034814959 A0A2R9B2D0 synaptopodin-2 protein-coding ENSPPAG00000035039 4 121635110 121806647 + 11683173 FAM167A family with sequence similarity 167 member A ASSOCIATED WITH genetic disease (ortholog); maturity-onset diabetes of the young type 11 (ortholog); Neurodevelopmental Disorders (ortholog) 8 8 3914802 3960791 - 7735764 7781696 + 100990753 A0A2R8ZHJ3;A0A2R8ZHJ9 MODEL JARIFH010000009;XM_003805322;XM_034965617 XP_003805370;XP_034821508 A0A2R8ZHJ9 protein-coding ENSPPAG00000018742 11683174 IL1RN interleukin 1 receptor antagonist ENCODES a protein that exhibits interleukin-1 receptor binding (ortholog); INVOLVED IN acute-phase response (ortholog); carboxylic acid metabolic process (ortholog); cellular response to norepinephrine stimulus (ortholog); PARTICIPATES IN interleukin-1 signaling pathway; ASSOCIATED WITH Abscess (ortholog); acute kidney failure (ortholog); Acute Liver Failure (ortholog); FOUND IN extracellular space (ortholog) 2A 2A 2A 15059572 15065747 - 114061182 114077048 + 88991646 89008013 - 22301074;30032202 100991079 A0A2R8ZFM1;A0A2R8ZJ09;A0A2R8ZJ15;A0A2R8ZM13 MODEL JARIFH010000002;XM_008960440;XM_008960456;XM_034953538 XP_008958688 A0A2R8ZJ09 LOC100991079 APPROVED protein-coding ENSPPAG00000015989 2A 114061182 114078839 + 11683190 KLHL18 kelch like family member 18 INVOLVED IN positive regulation of mitotic cell cycle phase transition (inferred); protein ubiquitination (inferred); ASSOCIATED WITH genetic disease (ortholog); Luscan-Lumish Syndrome (ortholog); Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy (ortholog) 3 3 3 47244512 47308568 + 48282935 48346165 + 47183587 47247574 + 22301074 100991845 A0A2R8ZRG7;A0A2R8ZSN1;A0A2R8ZX93;A0A2R8ZXA0 MODEL JARIFH010000004;XM_003818441;XM_008971785;XM_034956316;XM_034956317;XM_034956318 XP_003818489;XP_008970033;XP_034812207;XP_034812208 A0A2R8ZX93 kelch-like 18;kelch-like protein 18 protein-coding ENSPPAG00000026841 3 48282935 48346165 + 11683206 LOC100992227 mitochondrial carrier homolog 2-like 3 3 3 135444618 135445290 - 142014902 142015468 - 134562156 134562857 - 100992227 MODEL JARIFH010000004 mitochondrial carrier homolog 2 pseudogene APPROVED pseudo 11683207 ZNF354B zinc finger protein 354B ENCODES a protein that exhibits chromatin binding (inferred); metal ion binding (inferred); INVOLVED IN negative regulation of transcription by RNA polymerase II (ortholog); ASSOCIATED WITH Ehlers-Danlos syndrome dermatosparaxis type (ortholog); Ehlers-Danlos syndrome spondylodysplastic type 2 (ortholog); genetic disease (ortholog) 5 5 5 171917784 171973513 + 181278382 181303119 + 174022352 174046169 + 30032202 100992908 A0A2R8ZSW7;A0A2R8ZW39 MODEL JARIFH010000006;XM_008970587;XM_024928968;XM_055112888;XM_055112889;XM_055112890;XM_055112891 XP_008968835;XP_054968863;XP_054968864;XP_054968865;XP_054968866 A0A2R8ZW39 protein-coding ENSPPAG00000027268 5 181278382 181303119 + 11683216 NOL11 nucleolar protein 11 INVOLVED IN maturation of SSU-rRNA (inferred); positive regulation of transcription of nucleolar large rRNA by RNA polymerase I (inferred); ASSOCIATED WITH Developmental Disabilities (ortholog); genetic disease (ortholog); FOUND IN nucleolus (inferred); nucleus (inferred); t-UTP complex (inferred) 17 17 17 88563056 88589027 + 66849998 66875775 + 61650662 61676657 + 22301074;30032202 100994706 A0A2R9AW31 MODEL JARIFH010000018;XM_003812361;XM_034942758 XP_003812409 A0A2R9AW31 protein-coding ENSPPAG00000032763 17 66849998 66875775 + 11683238 MTM1 myotubularin 1 ENCODES a protein that exhibits intermediate filament binding (inferred); phosphatase activity (inferred); phosphatidylinositol binding (inferred); INVOLVED IN autophagosome assembly (ortholog); mitochondrion distribution (ortholog); muscle cell cellular homeostasis (ortholog); ASSOCIATED WITH autistic disorder (ortholog); autosomal dominant centronuclear myopathy (ortholog); centronuclear myopathy (ortholog); FOUND IN cytoplasm (inferred); cytosol (inferred); filopodium (inferred) X X X 150709793 150814721 + 150174762 150255381 + 140218742 140323495 + 22301074;30032202 100995776 A0A2R9BKD5 MODEL JARIFH010000024;XM_034949406;XM_034949407;XM_034949408 XP_034805297;XP_034805298;XP_034805299 A0A2R9BKD5 myotubularin protein-coding ENSPPAG00000036663 X 150174758 150255381 + 11683296 LOC106634965 putative zinc finger protein 735 7 7 7 127485611 127513846 - 63653954 63663048 - 62190423 62199510 + 22301074 106634965 MODEL JARIFH010000008;XM_055115289 XP_054971264 zinc finger protein 736-like APPROVED protein-coding 11683304 TNFAIP2 TNF alpha induced protein 2 INVOLVED IN exocytosis (inferred); ASSOCIATED WITH Charcot-Marie-Tooth disease axonal type 2O (ortholog); genetic disease (ortholog); Mitochondrial Complex IV Deficiency, Nuclear Type 17 (ortholog); FOUND IN exocyst (inferred) 14 14 14 103492791 103508690 + 103562408 103572383 + 83745176 83759157 + 22301074;30032202 100967365 A0A2R8ZWI0;A0A2R9A070 MODEL JARIFH010000015;XM_034938213;XM_034938214;XM_034938215;XM_034938216;XM_034938217;XM_055098049;XM_055098050 XP_034794104;XP_034794107;XP_034794108;XP_054954024;XP_054954025 A0A2R9A070 LOC100967365;LOC103784174 tumor necrosis factor alpha-induced protein 2;tumor necrosis factor alpha-induced protein 2-like APPROVED protein-coding ENSPPAG00000027880 14 103561181 103570309 + 11683319 PKP3 plakophilin 3 ENCODES a protein that exhibits RNA binding (ortholog); translation regulator activity (ortholog); INVOLVED IN regulation of translation (ortholog); ASSOCIATED WITH developmental and epileptic encephalopathy (ortholog); early infantile epileptic encephalopathy (ortholog); genetic disease (ortholog); FOUND IN cornified envelope (ortholog); desmosome (ortholog) 11 11 11 1921024 1929171 + 433216 441663 + 393047 402928 + 30032202 100968732 A0A2R9C914 MODEL JARIFH010000012;XM_034931803 XP_034787694 A0A2R9C914 plakophilin-3 protein-coding ENSPPAG00000041876 11 433326 441325 + 11683335 MTMR12 myotubularin related protein 12 ASSOCIATED WITH genetic disease (ortholog); Neurodevelopmental Disorders (ortholog); FOUND IN cytoplasm (inferred) 5 5 5 76144859 76230497 + 83404193 83489556 + 78021379 78107029 + 100969404 A0A2R9AEU5;A0A2R9AEW3;A0A2R9AIQ0;A0A2R9AIS4 MODEL JARIFH010000006;XM_034960215;XM_034960216 XP_034816106;XP_034816107 A0A2R9AIQ0 myotubularin-related protein 12 protein-coding ENSPPAG00000030885 5 83419703 83490944 + 11683355 TGIF2 TGFB induced factor homeobox 2 ENCODES a protein that exhibits DNA binding (inferred); sequence-specific double-stranded DNA binding (inferred); INVOLVED IN amacrine cell differentiation (ortholog); neuron differentiation (ortholog); nodal signaling pathway (ortholog); ASSOCIATED WITH focal epilepsy (ortholog); genetic disease (ortholog); FOUND IN centrosome (inferred); nucleoplasm (inferred); nucleus (inferred) 20 20 20 42304818 42325296 + 34025859 34046354 + 32906641 32927119 + 30032202 100969635 A0A2R9B1M5 MODEL JARIFH010000021;XM_003831893;XM_003831894;XM_003831895;XM_003831896;XM_008957279;XM_034947416;XM_034947417;XM_034947418 XP_003831941;XP_003831942;XP_003831943;XP_003831944;XP_008955527;XP_034803307;XP_034803308;XP_034803309 A0A2R9B1M5 homeobox protein TGIF2 protein-coding ENSPPAG00000034660 20 34028415 34046354 + 11683374 LOC100970677 40S ribosomal protein S18-like 19 19 19 21915580 21916835 + 18502967 18503523 + 17526260 17526935 + 100970677 MODEL JARIFH010000020 40S ribosomal protein S18 pseudogene APPROVED pseudo 11683375 NES nestin ENCODES a protein that exhibits CCR5 chemokine receptor binding (ortholog); INVOLVED IN cell projection morphogenesis (ortholog); negative regulation of neuron apoptotic process (ortholog); nervous system development (ortholog); ASSOCIATED WITH acute kidney failure (ortholog); brain infarction (ortholog); brain ischemia (ortholog); FOUND IN intermediate filament (ortholog) 1 1 1 92901730 92910368 + 135835456 135844094 - 132012273 132020907 - 30032202 100971246 A0A2R9B9M3;A0A2R9B9P6 MODEL JARIFH010000001;XM_003821044;XM_034937694 XP_003821092 A0A2R9B9M3 protein-coding ENSPPAG00000036260 1 135835456 135844094 - 11683383 CLDND2 claudin domain containing 2 ASSOCIATED WITH COVID-19 (ortholog); genetic disease (ortholog); multiple acyl-CoA dehydrogenase deficiency (ortholog); FOUND IN membrane (inferred) 19 19 19 59325546 59327819 - 57187820 57189721 - 48301853 48304251 - 30032202 100971781 A0A2R9AAC1 MODEL JARIFH010000020;XM_003813656;XM_034946608;XM_034946609;XM_055104300;XM_057300726 XP_034802499;XP_034802500;XP_054960275;XP_057156709 A0A2R9AAC1 claudin domain-containing protein 2 protein-coding ENSPPAG00000030259 19 57187820 57189721 - 11683391 LOC100972185 40S ribosomal protein S3a-like 14 14 14 35998590 36000342 + 34403585 34404717 + 16221991 16222817 + 100972185 MODEL JARIFH010000015 pseudo 11683392 TAFA1 TAFA chemokine like family member 1 ENCODES a protein that exhibits receptor ligand activity (ortholog); INVOLVED IN neuroblast differentiation (ortholog); regulation of neuroblast proliferation (ortholog); ASSOCIATED WITH genetic disease (ortholog); FOUND IN endoplasmic reticulum (ortholog); extracellular space (ortholog) 3 3 3 67950168 68495891 + 69280748 69839243 + 67912677 68473580 + 30032202 100972232 MODEL JARIFH010000004;XM_003811589;XM_003811590;XM_008963969;XM_034956856 XP_003811637;XP_008962217;XP_034812747 FAM19A1 chemokine-like protein TAFA-1;family with sequence similarity 19 member A1, C-C motif chemokine like APPROVED protein-coding 11683406 LOC100972759 plasma membrane ascorbate-dependent reductase CYBRD1 ENCODES a protein that exhibits identical protein binding (inferred); oxidoreductase activity (inferred); oxidoreductase activity, acting on metal ions (inferred); INVOLVED IN response to iron ion (ortholog); PARTICIPATES IN iron uptake pathway; ASSOCIATED WITH COVID-19 (ortholog); genetic disease (ortholog); split hand-foot malformation 5 (ortholog); FOUND IN apical plasma membrane (inferred); brush border membrane (inferred); membrane (inferred) 2B 2B 2B 74214272 74252005 + 176272010 176307618 + 58813554 58849162 + 30032202 100972759 A0A2R8ZD62 MODEL JARIFH010000003;XM_003824274;XM_008978021 XP_003824322;XP_008976269 A0A2R8ZD62 cytochrome b ascorbate-dependent protein 3;cytochrome b reductase 1;lysosomal membrane ascorbate-dependent ferrireductase CYB561A3 APPROVED protein-coding ENSPPAG00000002105 2B 176272010 176307618 + 11683418 LOC100973182 olfactory receptor 52J3-like 11 11 11 7448253 7449191 + 4872505 4873443 + 5203461 5204399 + 100973182 MODEL JARIFH010000012;XM_008972418 pseudo 11683421 LOC100973238 presenilins-associated rhomboid-like protein, mitochondrial 3 3 3 118009128 118010256 + 124061707 124062835 + 117149561 117150690 + 100973238 MODEL JARIFH010000004 pseudo 11683422 TIMM8B translocase of inner mitochondrial membrane 8 homolog B INVOLVED IN protein transport (inferred); PARTICIPATES IN beta-barrel pathway of mitochondrial protein import; ASSOCIATED WITH ataxia telangiectasia (ortholog); BH4-deficient hyperphenylalaninemia A (ortholog); Carney-Stratakis syndrome (ortholog); FOUND IN mitochondrial inner membrane (inferred); mitochondrion (inferred) 11 11 11 113927766 113933506 - 110814655 110816980 - 106971579 106973226 - 100974578 A0A2R9B6T3 MODEL JARIFH010000012;XM_003805465 XP_003805513 A0A2R9B6T3 mitochondrial import inner membrane translocase subunit Tim8 B protein-coding ENSPPAG00000035790 11 110815333 110816980 - 11683428 C16H16orf90 chromosome 16 C16orf90 homolog ASSOCIATED WITH epilepsy (ortholog); idiopathic generalized epilepsy (ortholog); Rubinstein-Taybi syndrome (ortholog) 16 16 16 7797982 7807326 - 3592843 3596010 - 2415638 2419093 - 100975533 A0A2R9AM83 MODEL JARIFH010000017;XM_024925965;XM_024925967;XM_034939682;XM_055100760 XP_024781733;XP_024781735;XP_034795573;XP_054956735 A0A2R9AM83 chromosome 16 open reading frame, human C16orf90;uncharacterized protein C16orf90 homolog APPROVED protein-coding ENSPPAG00000032262 11683435 CFAP92 cilia and flagella associated protein 92 (putative) ASSOCIATED WITH alkaptonuria (ortholog); Charcot-Marie-Tooth disease type 2B (ortholog); genetic disease (ortholog) 3 3 3 126848695 126969699 - 133329303 133411383 - 125971881 126061778 - 100975972 A0A2R9CRS2 MODEL JARIFH010000004;XM_024928174;XM_034957305;XM_055110402;XM_055110403;XM_055110404;XM_055110405;XM_055110406;XM_055110407;XM_055110408;XM_055110409;XM_055110411;XM_055110412;XM_055110413;XM_055110414;XM_055110415;XM_055110416;XM_055110417;XM_055110418 XP_054966377;XP_054966378;XP_054966379;XP_054966380;XP_054966381;XP_054966382;XP_054966383;XP_054966384;XP_054966386;XP_054966387;XP_054966388;XP_054966389;XP_054966390;XP_054966391;XP_054966392;XP_054966393 KIAA1257 KIAA1257 ortholog;uncharacterized protein CFAP92;uncharacterized protein KIAA1257 homolog APPROVED protein-coding ENSPPAG00000043474 11683474 CIMAP1C ciliary microtubule associated protein 1C ASSOCIATED WITH Bloom syndrome (ortholog); chromosome 15q24 deletion syndrome (ortholog); colorectal cancer (ortholog) 15 15 15 69074677 69085215 + 74225863 74229571 + 54630808 54636066 + 30032202 100976004 A0A2R9BR66 MODEL JARIFH010000016;XM_003818965;XM_034939178 XP_003819013 A0A2R9BR66 ODF3L1 outer dense fiber of sperm tails 3 like 1;outer dense fiber protein 3-like protein 1 APPROVED protein-coding ENSPPAG00000038972 15 74225859 74229571 + 11683482 TTC4 tetratricopeptide repeat domain 4 ENCODES a protein that exhibits Hsp90 protein binding (inferred); INVOLVED IN defense response to virus (inferred); innate immune response (inferred); ASSOCIATED WITH genetic disease (ortholog); FOUND IN cytoplasm (inferred); nucleus (inferred) 1 1 1 171233183 171259181 - 55581396 55607646 + 53992074 54018030 + 22301074 100976105 A0A2R9A9P0 MODEL JARIFH010000001;XM_003814995;XM_034965860 XP_003815043;XP_034821751 A0A2R9A9P0 tetratricopeptide repeat protein 4 protein-coding ENSPPAG00000030150 1 55581396 55607646 + 11683496 CACYBP calcyclin binding protein ENCODES a protein that exhibits molecular adaptor activity (ortholog); protein domain specific binding (ortholog); INVOLVED IN cardiac muscle cell differentiation (ortholog); cellular response to calcium ion (ortholog); cellular response to leukemia inhibitory factor (ortholog); ASSOCIATED WITH 1q24 Deletion Syndrome (ortholog); antithrombin III deficiency (ortholog); gastrointestinal stromal tumor (ortholog); FOUND IN cell body (ortholog); nuclear envelope lumen (ortholog); SCF ubiquitin ligase complex (ortholog) 1 1 1 74394759 74405832 - 154209195 154220583 + 150511021 150522369 + 22301074;30032202 100977850 A0A2R9A4G2;A0A2R9A4H3;A0A2R9A5M0 MODEL JARIFH010000001;XM_003824683;XM_008978342;XM_034941077 XP_008976590;XP_034796968 A0A2R9A4G2 protein-coding ENSPPAG00000029276 1 154210001 154220583 + 11683512 CYP46A1 cytochrome P450 family 46 subfamily A member 1 ENCODES a protein that exhibits cholesterol 24-hydroxylase activity (inferred); heme binding (inferred); iron ion binding (inferred); INVOLVED IN protein localization to membrane raft (ortholog); PARTICIPATES IN bile acid biosynthetic pathway; cerebrotendinous xanthomatosis pathway; congenital bile acid synthesis defect pathway; ASSOCIATED WITH Alzheimer's disease (ortholog); chronic obstructive pulmonary disease (ortholog); genetic disease (ortholog); FOUND IN dendrite (inferred); endoplasmic reticulum membrane (inferred); postsynapse (inferred) 14 14 14 100056722 100099224 + 99628511 99671218 + 80309698 80352181 + 22301074;30032202 100978372 A0A2R9B9R6;A0A2R9BFP8 MODEL JARIFH010000015;XM_003832850;XM_034938119 XP_003832898 A0A2R9B9R6 LOC100978372 cholesterol 24-hydroxylase APPROVED protein-coding ENSPPAG00000036038 14 99628511 99671218 + 11683531 LOC100980026 RNA-binding motif protein, X chromosome-like 9 9 9 93948526 93951530 - 31253805 31255556 + 30445173 30446827 + 100980026 MODEL JARIFH010000010;XR_003028835 pseudo 11683532 FLNA filamin A ENCODES a protein that exhibits DNA-binding transcription factor binding (ortholog); Fc-gamma receptor I complex binding (ortholog); G protein-coupled receptor binding (ortholog); INVOLVED IN actin crosslink formation (ortholog); actin cytoskeleton organization (ortholog); adenylate cyclase-inhibiting dopamine receptor signaling pathway (ortholog); PARTICIPATES IN calcium signaling pathway via the calcium-sensing receptor; integrin mediated signaling pathway; Rho/Rac/Cdc42 mediated signaling pathway; ASSOCIATED WITH adrenoleukodystrophy (ortholog); Aneurysm (ortholog); aortic aneurysm (ortholog); FOUND IN actin cytoskeleton (ortholog); actin filament (ortholog); actin filament bundle (ortholog) X X 154335307 154361504 + 143799088 143825282 + 30032202 100980320 A0A2R8ZJ72 MODEL JARIFH010000024;XM_003804718;XM_034950347 XP_003804766;XP_034806238 A0A2R8ZJ72 filamin-A protein-coding ENSPPAG00000016208 11683533 LRRN4CL LRRN4 C-terminal like ASSOCIATED WITH genetic disease (ortholog); intellectual disability (ortholog); Larsen-like syndrome B3GAT3 type (ortholog) 11 11 11 64952079 64959110 - 61396743 61398946 - 58042970 58046697 - 22301074 100981380 MODEL JARIFH010000012;XM_034932800 XP_034788691 LRRN4 C-terminal-like protein-like protein-coding 11683539 CD300A CD300a molecule ENCODES a protein that exhibits phosphatase binding (ortholog); INVOLVED IN establishment of localization in cell (ortholog); mast cell degranulation (ortholog); negative regulation of mast cell degranulation (ortholog); ASSOCIATED WITH genetic disease (ortholog); FOUND IN plasma membrane (ortholog) 17 17 17 95318078 95342901 + 73963312 73984547 + 68403647 68426285 + 30032202 100981387 A0A2R9C0R2;A0A2R9C0R3;A0A2R9C0T0;A0A2R9C193;A0A2R9C3U0 MODEL JARIFH010000018;XM_024926236;XM_024926237;XM_024926238;XM_034942826;XM_034942827;XM_034942828;XM_055101474;XM_055101475;XM_057300268;XM_057300269;XM_057300270;XR_004667345;XR_004667346;XR_004667347;XR_004667348;XR_004667349;XR_610901 XP_034798717;XP_034798718;XP_034798719;XP_054957449;XP_054957450;XP_057156251;XP_057156252;XP_057156253 A0A2R9C193 CMRF35-like molecule 8 protein-coding ENSPPAG00000040554 17 73965008 73983928 + 11683564 LOC100981640 60S ribosomal protein L13a-like 8 8 8 71633535 71636177 - 78416308 78416937 - 76791501 76792476 - 100981640 MODEL JARIFH010000009 60S ribosomal protein L13a pseudogene APPROVED pseudo 11683565 MMP24 matrix metallopeptidase 24 ENCODES a protein that exhibits cadherin binding (inferred); hydrolase activity (inferred); metal ion binding (inferred); INVOLVED IN cell-cell adhesion mediated by cadherin (inferred); cell-cell adhesion via plasma-membrane adhesion molecules (inferred); detection of temperature stimulus involved in sensory perception of pain (inferred); ASSOCIATED WITH genetic disease (ortholog); Neoplasm Metastasis (ortholog); FOUND IN extracellular matrix (inferred); membrane (inferred); plasma membrane (inferred) 20 20 20 40952956 41004532 + 32686887 32729403 + 31554770 31606348 + 22301074;30032202 100981643 A0A2R9A2M0 MODEL JARIFH010000021;XM_034947074 XP_034802965 A0A2R9A2M0 matrix metalloproteinase-24 protein-coding ENSPPAG00000028979 20 32686887 32729403 + 11683580 GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 ENCODES a protein that exhibits carbohydrate binding (inferred); glycosyltransferase activity (inferred); polypeptide N-acetylgalactosaminyltransferase activity (inferred); INVOLVED IN protein glycosylation (inferred); protein O-linked glycosylation (inferred); ASSOCIATED WITH genetic disease (ortholog); Hydrops Fetalis (ortholog); intestinal volvulus (ortholog); FOUND IN Golgi apparatus (inferred); Golgi membrane (inferred); membrane (inferred) 2A 2A 2A 95364611 95592728 + 30994746 31222421 - 30923029 31150626 - 30032202 100984050 A0A2R9BJS4;A0A2R9BND1;A0A2R9BTN1 MODEL JARIFH010000002;XM_003827154;XM_024927753;XM_034952878 XP_003827202;XP_024783521 A0A2R9BTN1 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) protein-coding ENSPPAG00000037975 2A 30995180 31221784 - 11683602 PI3 peptidase inhibitor 3 ENCODES a protein that exhibits peptidase inhibitor activity (inferred); structural constituent of skin epidermis (inferred); INVOLVED IN copulation (inferred); ASSOCIATED WITH contact dermatitis (ortholog); focal epilepsy (ortholog); genetic disease (ortholog); FOUND IN cornified envelope (inferred); extracellular region (inferred) 20 20 20 50900847 50902555 + 42595572 42598033 + 41504467 41506928 + 22301074;30032202 100985495 A0A2R8ZSC7 MODEL JARIFH010000021;XM_003825950 XP_003825998 A0A2R8ZSC7 elafin protein-coding ENSPPAG00000027163 20 42595572 42598033 + 11683609 KCNK17 potassium two pore domain channel subfamily K member 17 ENCODES a protein that exhibits potassium channel activity (inferred); INVOLVED IN monoatomic ion transmembrane transport (inferred); monoatomic ion transport (inferred); potassium ion transmembrane transport (inferred); ASSOCIATED WITH genetic disease (ortholog); FOUND IN membrane (inferred) 6 6 6 49665159 49680496 - 40198769 40214082 - 38887966 38903293 - 22301074;30032202 100986329 A0A2R9CEZ0;A0A2R9CPP8 MODEL JARIFH010000007;XM_003833339;XM_034962040 XP_003833387 A0A2R9CPP8 potassium channel subfamily K member 17;potassium channel, subfamily K, member 17 protein-coding ENSPPAG00000042911 6 40198761 40214232 - 11683624 MRPL28 mitochondrial ribosomal protein L28 ENCODES a protein that exhibits structural constituent of ribosome (inferred); ASSOCIATED WITH epilepsy (ortholog); genetic disease (ortholog); idiopathic generalized epilepsy (ortholog); FOUND IN cytosol (inferred); mitochondrial large ribosomal subunit (inferred); mitochondrial ribosome (inferred) 16 16 4384774 4388553 - 358376 361566 - 22301074;30032202 100987157 A0A2R9B317 MODEL JARIFH010000017;XM_003809403;XM_008961621;XM_008961622;XM_008961623;XM_055100811;XM_055100812 XP_003809451;XP_008959869;XP_054956786;XP_054956787 A0A2R9B317 39S ribosomal protein L28, mitochondrial protein-coding ENSPPAG00000034473 16 358376 361460 - 11683643 LOC100987160 uncharacterized LOC100987160 19 19 19 64473312 64478783 + 62214003 62219894 + 53419425 53424904 + 100987160 MODEL JARIFH010000020;XR_001337512 ncrna 11683650 YY2 YY2 transcription factor ENCODES a protein that exhibits cis-regulatory region sequence-specific DNA binding (inferred); DNA-binding transcription activator activity, RNA polymerase II-specific (inferred); sequence-specific DNA binding (inferred); INVOLVED IN positive regulation of transcription by RNA polymerase II (inferred); regulation of transcription by RNA polymerase II (inferred); ASSOCIATED WITH autistic disorder (ortholog); genetic disease (ortholog); ichthyosis follicularis-alopecia-photophobia syndrome 1 (ortholog); FOUND IN nucleus (inferred) X X X 23665506 23680423 + 21842676 21844949 + 14486444 14489457 + 30032202 100988915 A0A2R9AR94 MODEL JARIFH010000024;XM_003845969;XM_055106222 XP_054962197 A0A2R9AR94 transcription factor YY2 protein-coding ENSPPAG00000033052 X 21842693 21843812 + 11683655 LOC100988948 disintegrin and metalloproteinase domain-containing protein 20-like ENCODES a protein that exhibits metal ion binding (inferred); metalloendopeptidase activity (inferred); metallopeptidase activity (inferred); INVOLVED IN proteolysis (inferred); FOUND IN membrane (inferred) 14 14 14 70806361 70810174 - 69929989 69933817 - 51059727 51063204 - 22301074;30032202 100988948 A0A2R9CL78 MODEL JARIFH010000015;XM_034937735 XP_034793626 A0A2R9CL78 protein-coding ENSPPAG00000043925 11683659 TMEM132A transmembrane protein 132A ENCODES a protein that exhibits protein homodimerization activity (inferred); INVOLVED IN cellular response to hydrogen peroxide (ortholog); negative regulation of programmed cell death (ortholog); negative regulation of protein catabolic process (ortholog); ASSOCIATED WITH genetic disease (ortholog); intellectual disability (ortholog); leukocyte adhesion deficiency 3 (ortholog); FOUND IN endoplasmic reticulum (inferred); membrane (inferred); plasma membrane (inferred) 11 11 11 63137762 63150456 + 59628353 59640910 + 56187444 56200353 + 100989310 A0A2R9C215;A0A2R9CC94 MODEL JARIFH010000012;XM_034932709;XM_034932710;XM_034932711;XM_034932712;XM_034932713 XP_034788600;XP_034788601;XP_034788602;XP_034788603 A0A2R9CC94 protein-coding ENSPPAG00000040745 11 59628534 59640658 + 11683674 IRF1 interferon regulatory factor 1 ENCODES a protein that exhibits sequence-specific DNA binding (ortholog); INVOLVED IN canonical NF-kappaB signal transduction (ortholog); CD8-positive, alpha-beta T cell differentiation (ortholog); cellular response to exogenous dsRNA (ortholog); PARTICIPATES IN interleukin-6 signaling pathway; Jak-Stat signaling pathway; nuclear factor kappa B signaling pathway; ASSOCIATED WITH allergic conjunctivitis (ortholog); asthma (ortholog); bacterial pneumonia (ortholog); FOUND IN chromatin (inferred); cytoplasm (inferred); nucleus (inferred) 5 5 5 125938753 125947988 - 134066250 134075035 - 127903887 127913843 - 30032202 100990921 A0A2R9BA20;A0A2R9BA43;A0A2R9BBG0;A0A2R9BDS6 MODEL JARIFH010000006;XM_003829304;XM_034960468;XM_034960469;XM_034960470 XP_003829352 A0A2R9BBG0 protein-coding ENSPPAG00000036300 5 134067441 134075035 - 11683688 SMARCA5 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 ENCODES a protein that exhibits histone binding (ortholog); INVOLVED IN cellular response to leukemia inhibitory factor (ortholog); chromatin organization (ortholog); chromatin remodeling (ortholog); PARTICIPATES IN ISWI family mediated chromatin remodeling pathway; ASSOCIATED WITH Developmental Disabilities (ortholog); Dwarfism (ortholog); genetic disease (ortholog); FOUND IN ACF complex (ortholog); B-WICH complex (ortholog); NoRC complex (ortholog) 4 4 4 141772592 141817851 + 147174145 147214809 + 135874888 135917096 + 22301074;30032202 100992321 A0A2R9A065;A0A2R9A088;A0A2R9A1C9;A0A2R9A4I5;A0A2R9A4J0 MODEL JARIFH010000005;XM_003820704 XP_003820752 A0A2R9A065 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5 protein-coding ENSPPAG00000028523 4 147174060 147214809 + 11683716 MCRIP1 MAPK regulated corepressor interacting protein 1 INVOLVED IN regulation of epithelial to mesenchymal transition (ortholog); ASSOCIATED WITH genetic disease (ortholog); FOUND IN cytoplasm (ortholog) 17 17 17 103258751 103269655 - 81930301 81934404 - 76227462 76238363 - 100994134 A0A2R9BQS4;A0A2R9BQS5;A0A2R9BU87;A0A2R9BUB1 MODEL JARIFH010000018;XM_003831111;XM_008956496;XM_008956497;XM_034943125;XM_034943126;XM_034943127;XM_034943128;XM_055101079;XM_055101080;XM_055101081;XM_055101082;XM_055101083;XM_057300219 XP_034799016;XP_034799018;XP_054957054;XP_054957055;XP_054957056;XP_054957057;XP_054957058;XP_057156202 A0A2R9BUB1 mapk-regulated corepressor-interacting protein 1 protein-coding ENSPPAG00000038894 11683731 LOC100994722 alpha-ketoglutarate dehydrogenase component 4-like 3 3 3 6787345 6787747 - 6819229 6819616 - 6723582 6724034 - 100994722 MODEL JARIFH010000004 28S ribosomal protein S36, mitochondrial-like APPROVED pseudo 11683732 LOC100995096 ferritin heavy chain-like 9 9 9 109032310 109033726 + 15847572 15848260 - 15343864 15344734 - 100995096 MODEL JARIFH010000010;XR_157427 ferritin heavy chain pseudogene APPROVED pseudo 11683744 LOC103785562 nuclear migration protein nudC-like 2B 2B 2B 81117107 81118163 + 183416528 183417531 + 65711955 65712894 + 103785562 MODEL JARIFH010000003;XR_611253 nuclear migration protein nudC pseudogene APPROVED pseudo 11683772 LOC106634443 60S ribosomal protein L36a-like 2A 2A 2A 102191221 102191543 - 24425886 24426211 + 24328526 24329056 + 106634443 MODEL JARIFH010000002 pseudo 11683794 MAP1LC3B microtubule associated protein 1 light chain 3 beta ENCODES a protein that exhibits ceramide binding (ortholog); microtubule binding (ortholog); phosphatidylethanolamine binding (ortholog); INVOLVED IN autophagosome maturation (ortholog); cellular response to starvation (ortholog); establishment of localization in cell (ortholog); PARTICIPATES IN autophagy pathway; ASSOCIATED WITH 16Q24.3 Microdeletion Syndrome (ortholog); Chemical and Drug Induced Liver Injury (ortholog); genetic disease (ortholog); FOUND IN autolysosome (ortholog); autophagosome (ortholog); autophagosome membrane (ortholog) 16 16 16 103065985 103080043 + 87393976 87399736 + 68063869 68076772 + 30032202 100968020 A0A2R9AC06 MODEL JARIFH010000017;XM_034940863;XM_034940864 XP_034796754;XP_034796755 A0A2R9AC06 microtubule-associated proteins 1A/1B light chain 3B protein-coding ENSPPAG00000030368 11683806 CNTROB centrobin, centriole duplication and spindle assembly protein ENCODES a protein that exhibits protein domain specific binding (inferred); INVOLVED IN centriole replication (inferred); centrosome separation (inferred); mitotic cytokinetic process (inferred); ASSOCIATED WITH common variable immunodeficiency (ortholog); cone-rod dystrophy 6 (ortholog); Diamond-Blackfan anemia (ortholog); FOUND IN centrosome (ortholog) 17 17 17 17496297 17512824 + 7953617 7970148 + 7967297 7983743 + 30032202 100969935 A0A2R9BF30 MODEL JARIFH010000018;XM_024926083;XM_024926085;XM_024926091;XM_034941481;XM_034941482;XM_034941483;XM_034941484;XM_034941485;XM_034941486;XM_034941487;XM_034941488;XM_034941489;XM_055102009;XM_055102010;XM_055102011;XM_055102012;XM_055102013;XM_055102014;XM_055102015;XM_057300345 XP_024781851;XP_024781853;XP_034797373;XP_034797379;XP_034797380;XP_054957984;XP_054957985;XP_054957986;XP_054957987;XP_054957988;XP_054957989;XP_054957990;XP_057156328 A0A2R9BF30 centrobin protein-coding ENSPPAG00000035938 17 7953660 7970148 + 11683858 HIPK3 homeodomain interacting protein kinase 3 ENCODES a protein that exhibits ATP binding (inferred); nucleotide binding (inferred); protein kinase activity (inferred); INVOLVED IN mRNA transcription (inferred); negative regulation of apoptotic process (inferred); ASSOCIATED WITH genetic disease (ortholog); intellectual disability (ortholog); FOUND IN cytoplasm (ortholog); PML body (ortholog) 11 11 11 35482178 35582117 + 33114534 33212783 + 33230731 33330617 + 22301074;30032202 100970062 A0A2R9CDN4;A0A2R9CG95 MODEL JARIFH010000012;XM_003830394;XM_003830395;XM_008955865;XM_034932379;XM_034932381 XP_003830442;XP_008954113;XP_034788270;XP_034788272 A0A2R9CDN4 homeodomain-interacting protein kinase 3 protein-coding ENSPPAG00000042665 11 33114534 33212783 + 11683884 CCDC27 coiled-coil domain containing 27 ASSOCIATED WITH chromosome 1p36 deletion syndrome (ortholog); Ehlers-Danlos syndrome spondylodysplastic type 2 (ortholog); genetic disease (ortholog) 1 1 1 223181316 223205098 - 3544901 3564122 + 2423607 2443033 + 100970124 A0A2R9B7Z5;A0A2R9BFD3 MODEL JARIFH010000001;XM_034953825 XP_034809716 A0A2R9B7Z5 coiled-coil domain-containing protein 27 protein-coding ENSPPAG00000035974 1 3544974 3564999 + 11683901 GZMM granzyme M ENCODES a protein that exhibits endopeptidase activity (ortholog); serine-type endopeptidase activity (ortholog); serine-type peptidase activity (ortholog); INVOLVED IN apoptotic process (ortholog); T cell mediated cytotoxicity (ortholog); ASSOCIATED WITH genetic disease (ortholog) 19 19 19 4108179 4116170 + 514047 521578 + 584712 591186 - 22301074 100970697 MODEL JARIFH010000020;XM_034944204 XP_034800095 protein-coding 11683908 LOC100971236 DNA-directed RNA polymerase II subunit RPB3-like 21 21 21 6076877 6083135 + 14859397 14865654 + 1492498 1498756 + 100971236 MODEL JARIFH010000022 DNA-directed RNA polymerase II subunit RPB3 pseudogene APPROVED pseudo 11683909 HIGD1A HIG1 hypoxia inducible domain family member 1A INVOLVED IN cellular response to glucose starvation (ortholog); cellular response to hypoxia (ortholog); negative regulation of apoptotic process (ortholog); ASSOCIATED WITH congenital muscular dystrophy-dystroglycanopathy type A8 (ortholog); genetic disease (ortholog); FOUND IN mitochondrion (ortholog); nucleoplasm (ortholog); nucleus (ortholog) 3 3 3 42754666 42772445 - 43754154 43773553 - 42692771 42710654 - 30032202 100972092 A0A2R8ZSI2;A0A2R8ZVR7 MODEL JARIFH010000004;XM_003809303;XM_008961493;XM_008961494;XM_055109740 XP_003809351;XP_008959741;XP_008959742;XP_054965715 A0A2R8ZSI2 HIG1 domain family member 1A, mitochondrial protein-coding ENSPPAG00000027193 3 43754154 43773460 - 11683925 CLDN34 claudin 34 ENCODES a protein that exhibits structural molecule activity (inferred); ASSOCIATED WITH autistic disorder (ortholog); genetic disease (ortholog); FOUND IN anchoring junction (inferred); bicellular tight junction (inferred); membrane (inferred) X X X 11766343 11776750 + 9850227 9850932 + 2591451 2599328 + 30032202 100973023 A0A2R8ZI17 MODEL JARIFH010000024;XM_003811948;XM_055106599;XR_004668786 XP_003811996;XP_054962574 A0A2R8ZI17 claudin-34 protein-coding ENSPPAG00000019292 X 9850227 9850871 + 11683929 VSTM2A V-set and transmembrane domain containing 2A ENCODES a protein that exhibits identical protein binding (ortholog); INVOLVED IN cellular response to BMP stimulus (ortholog); positive regulation of brown fat cell differentiation (ortholog); positive regulation of gene expression (ortholog); ASSOCIATED WITH autistic disorder (ortholog); genetic disease (ortholog); pleomorphic xanthoastrocytoma (ortholog); FOUND IN extracellular region (ortholog); nucleus (ortholog) 7 7 7 107700323 107729191 + 55447878 55477148 + 55136669 55168379 + 100973410 A0A2R8ZDS2;A0A2R8ZDS6 MODEL JARIFH010000008;XM_003815816;XM_008968833;XM_008968834;XM_008968835;XM_008968836;XM_034964121;XM_034964122;XM_034964124;XM_055115959;XM_055115960 XP_003815864;XP_008967081;XP_008967082;XP_008967083;XP_008967084;XP_034820013;XP_034820015;XP_054971934;XP_054971935 A0A2R8ZDS6 V-set and transmembrane domain-containing protein 2A protein-coding ENSPPAG00000013457 7 55447878 55477148 + 11683950 TBXT T-box transcription factor T ENCODES a protein that exhibits DNA binding (inferred); DNA-binding transcription factor activity (inferred); DNA-binding transcription factor activity, RNA polymerase II-specific (inferred); INVOLVED IN anatomical structure morphogenesis (ortholog); anterior/posterior pattern specification (ortholog); bone morphogenesis (ortholog); ASSOCIATED WITH autosomal recessive intellectual developmental disorder 40 (ortholog); chordoma (ortholog); genetic disease (ortholog); FOUND IN chromatin (inferred); cytoplasm (inferred); nucleoplasm (inferred) 6 6 6 184249368 184259217 - 169095723 169106595 - 164112117 164122253 - 22301074;30032202 100974229 A0A2R9A9Z3;A0A2R9AA09 MODEL DQ977189;JARIFH010000007;XM_008973627 ABM54222;ABM54223;XP_008971875 A0A2R9A9Z3 T T brachyury transcription factor;T, brachyury homolog APPROVED protein-coding ENSPPAG00000030203 6 169095723 169106595 - 11683971 GDAP1L1 ganglioside induced differentiation associated protein 1 like 1 ASSOCIATED WITH focal epilepsy (ortholog); genetic disease (ortholog); T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations (ortholog); FOUND IN cytoplasm (inferred); membrane (inferred) 20 20 20 49936400 50005774 + 41634240 41704495 + 40578381 40611354 + 100975386 A0A2R9AS37;A0A2R9AUH4;A0A2R9AUI4 MODEL JARIFH010000021;XM_003825919;XM_034947230;XM_034947231;XM_055104926;XM_057300902;XR_608362 XP_003825967;XP_034803121;XP_034803122;XP_054960901;XP_057156885 A0A2R9AUH4 LOC117977192 ganglioside-induced differentiation-associated protein 1-like 1;uncharacterized LOC117977192 PROVISIONAL protein-coding ENSPPAG00000032416 20 41671662 41704495 + 11683988 LRRC47 leucine rich repeat containing 47 ENCODES a protein that exhibits phenylalanine-tRNA ligase activity (inferred); RNA binding (inferred); INVOLVED IN phenylalanyl-tRNA aminoacylation (inferred); ASSOCIATED WITH chromosome 1p36 deletion syndrome (ortholog); Ehlers-Danlos syndrome spondylodysplastic type 2 (ortholog); genetic disease (ortholog) 1 1 1 223156378 223172677 + 3573386 3589523 - 2451747 2468043 - 22301074;30032202 100975801 A0A2R9BAC8 MODEL JARIFH010000001;XM_034953826 XP_034809717 A0A2R9BAC8 leucine-rich repeat-containing protein 47 protein-coding ENSPPAG00000036370 11684000 TMEM210 transmembrane protein 210 ASSOCIATED WITH Adams-Oliver Syndrome 5 (ortholog); autosomal dominant intellectual developmental disorder 8 (ortholog); developmental and epileptic encephalopathy 14 (ortholog); FOUND IN membrane (inferred) 9 9 9 2229352 2230594 + 137200480 137201612 - 108231003 108232819 - 100976680 A0A2R9AY66 MODEL JARIFH010000010;XM_003817037 XP_003817085 A0A2R9AY66 protein-coding ENSPPAG00000034325 9 137200480 137201612 - 11684023 SHOC1 shortage in chiasmata 1 ENCODES a protein that exhibits single-stranded DNA binding (ortholog); INVOLVED IN reciprocal meiotic recombination (inferred); resolution of meiotic recombination intermediates (inferred); synaptonemal complex assembly (inferred); ASSOCIATED WITH Spermatogenic Failure 75 (ortholog); FOUND IN chromosome (inferred); condensed nuclear chromosome (inferred) 9 9 9 27637541 27746362 + 110978485 111085856 - 82816269 82916515 - 22301074;30032202 100977760 A0A2R9BCX9;A0A2R9BCY9;A0A2R9BGW3 MODEL JARIFH010000010;XM_003810863;XM_034967985;XM_055117251;XM_055117252 XP_003810911;XP_034823876;XP_054973226;XP_054973227 A0A2R9BCX9 C9H9orf84 chromosome 9 C9orf84 homolog;uncharacterized protein C9orf84 homolog APPROVED protein-coding ENSPPAG00000036816 9 110978485 111085856 - 11684061 SLC30A6 solute carrier family 30 member 6 ENCODES a protein that exhibits zinc:proton antiporter activity (ortholog); INVOLVED IN Golgi to endosome transport (ortholog); zinc ion transport (ortholog); ASSOCIATED WITH Alzheimer's disease (ortholog); Autoinflammation with Infantile Enterocolitis (ortholog); familial cold autoinflammatory syndrome 4 (ortholog); FOUND IN Golgi apparatus (inferred); membrane (inferred); trans-Golgi network membrane (inferred) 2A 2A 2A 94273411 94331600 - 32896053 32953830 + 32183308 32238261 + 22301074 100977934 A0A2R9BL70;A0A2R9BLV1;A0A2R9BPQ9;A0A2R9BV01;A0A2R9BV17 MODEL JARIFH010000002;XM_003822010;XM_003822011;XM_024927667;XM_034952898;XM_034952899;XM_034952900;XM_034952901;XM_055108080;XM_055108081;XM_055108082;XM_055108083 XP_003822058;XP_003822059;XP_034808789;XP_034808791;XP_034808792;XP_054964055;XP_054964056;XP_054964057;XP_054964058 A0A2R9BV01 zinc transporter 6 protein-coding ENSPPAG00000038176 2A 32896053 32953830 + 11684086 SLC35E1 solute carrier family 35 member E1 ASSOCIATED WITH genetic disease (ortholog); FOUND IN Golgi apparatus (inferred); membrane (inferred) 19 19 19 20430524 20450775 - 17019504 17040738 - 16041019 16062568 - 30032202 100979571 A0A2R8ZWG5 MODEL JARIFH010000020;XM_003813601 XP_003813649 A0A2R8ZWG5 protein-coding ENSPPAG00000026424 19 17019504 17040744 - 11684096 C2BH2orf80 chromosome 2B C2orf80 homolog ASSOCIATED WITH genetic disease (ortholog); Neurodevelopmental Disorders (ortholog); primary pulmonary hypertension (ortholog) 2B 2B 2B 110785748 110810650 - 213519800 213544445 - 95396712 95421688 - 100979727 A0A2R9B2H6;A0A2R9B6A0;A0A2R9B939 MODEL JARIFH010000003;XM_003820819;XM_034954970;XM_034954971;XM_034954972;XM_034954973;XM_055109027;XM_055109028;XM_055109029;XM_055109030;XM_055109031;XM_055109032;XM_055109033;XM_055109034;XM_055109035;XM_055109036;XM_057301487;XR_004670300;XR_004670301;XR_004670302;XR_004670303;XR_004670304;XR_004670305;XR_008624574;XR_008624575 XP_054965002;XP_054965003;XP_054965004;XP_054965005;XP_054965006;XP_054965007;XP_054965008;XP_054965009;XP_054965010;XP_054965011;XP_057157470 A0A2R9B6A0 chromosome 2B open reading frame, human C2orf80;uncharacterized protein C2orf80 homolog APPROVED protein-coding ENSPPAG00000035033 2B 213519806 213544445 - 11684113 LOC100980190 prefoldin subunit 4-like 7 7 7 56117104 56117439 + 3187807 3188142 + 3096074 3096409 + 22301074;30032202 100980190 MODEL JARIFH010000008;XM_034963553 XP_034819444 prefoldin subunit 4 pseudogene APPROVED protein-coding ENSPPAG00000008972 11684114 MC4R melanocortin 4 receptor ENCODES a protein that exhibits hormone binding (ortholog); melanocortin receptor activity (ortholog); peptide hormone binding (ortholog); INVOLVED IN diet induced thermogenesis (ortholog); energy reserve metabolic process (ortholog); feeding behavior (ortholog); PARTICIPATES IN altered energy homeostasis pathway; altered melanocortin system pathway; G protein mediated signaling pathway via Galphas family; ASSOCIATED WITH Acute-Phase Reaction (ortholog); Binge-Eating Disorder (ortholog); Body Weight (ortholog); FOUND IN membrane (inferred); plasma membrane (inferred) 18 18 18 63588255 63592920 - 57069089 57070670 - 53744172 53747282 - 19011902;22301074;30032202 100980364 C3U0E1 MODEL FJ373050;JARIFH010000019;XM_003827262 ACO90009;XP_003827310 C3U0E1 melanocortin receptor 4 protein-coding ENSPPAG00000032218 18 57069259 57070257 - 11684119 PDPK1 3-phosphoinositide dependent protein kinase 1 ENCODES a protein that exhibits 3-phosphoinositide-dependent protein kinase activity (ortholog); insulin receptor binding (ortholog); phospholipase activator activity (ortholog); INVOLVED IN calcium-mediated signaling (ortholog); cell migration (ortholog); cellular response to brain-derived neurotrophic factor stimulus (ortholog); PARTICIPATES IN adenosine signaling pathway; angiotensin II signaling pathway; FasL mediated signaling pathway; ASSOCIATED WITH Breast Neoplasms (ortholog); congestive heart failure (ortholog); diffuse large B-cell lymphoma (ortholog); FOUND IN cell projection (ortholog); cytoplasm (ortholog); cytoplasmic vesicle (ortholog) 16 16 6820580 6889876 + 1394447 1463735 + 22301074;30032202 100981220 MODEL JARIFH010000017;XM_034940968;XM_034940969;XM_034940970;XM_034940971;XM_034940972;XM_055100651;XM_055100652;XM_055100653;XM_057300155 XP_034796859;XP_034796860;XP_034796862;XP_054956626;XP_054956627;XP_054956628;XP_057156138 LOC100981220 3-phosphoinositide-dependent protein kinase 1;3-phosphoinositide-dependent protein kinase 1-like APPROVED protein-coding 11684120 MBNL2 muscleblind like splicing regulator 2 ENCODES a protein that exhibits sequence-specific double-stranded DNA binding (ortholog); INVOLVED IN regulation of alternative mRNA splicing, via spliceosome (ortholog); regulation of RNA splicing (ortholog); ASSOCIATED WITH Anal Atresia, Hypospadias, and Penoscrotal Inversion (ortholog); genetic disease (ortholog); holoprosencephaly 5 (ortholog); FOUND IN nucleoplasm (inferred) 13 13 13 97326508 97580896 + 97538615 97711843 + 78301339 78555615 + 22301074 100981297 A0A2R9B862;A0A2R9B863;A0A2R9B882;A0A2R9B9L2;A0A2R9B9L7;A0A2R9BBY7;A0A2R9BFK7;A0A2R9BFL2 MODEL JARIFH010000014;XM_003832033;XM_003832034;XM_003832035;XM_008957399;XM_008957400;XM_008957401;XM_008957402;XM_034936869;XM_055096914;XM_055096915;XM_055096916;XM_055096917;XM_057299607;XM_057299608;XM_057299609 XP_003832081;XP_003832082;XP_003832083;XP_008955647;XP_008955648;XP_008955649;XP_008955650;XP_034792760;XP_054952889;XP_054952890;XP_054952891;XP_054952892;XP_057155590;XP_057155591;XP_057155592 A0A2R9B9L7 muscleblind-like protein 2 protein-coding ENSPPAG00000035995 13 97591686 97711843 + 11684144 GRAMD1C GRAM domain containing 1C ENCODES a protein that exhibits cholesterol binding (inferred); cholesterol transfer activity (inferred); INVOLVED IN cellular response to cholesterol (inferred); intermembrane lipid transfer (inferred); lipid transport (inferred); ASSOCIATED WITH genetic disease (ortholog); FOUND IN endoplasmic reticulum membrane (inferred); endoplasmic reticulum-plasma membrane contact site (inferred); membrane (inferred) 3 3 3 111836007 111944167 + 117898371 118006502 + 110977513 111085458 + 30032202 100981472 A0A2R9CH31;A0A2R9CH79;A0A2R9CJS9;A0A2R9CQY7 MODEL JARIFH010000004;XM_003825114;XM_008950418;XM_034957112;XM_034957113 XP_003825162;XP_034813004 A0A2R9CQY7 GRAM domain-containing protein 1C protein-coding ENSPPAG00000043239 3 117898371 118006502 + 11684169 LOC100981482 nicolin-1-like X X X 48903852 48906085 - 47568079 47569139 - 39709953 39711608 - 100981482 MODEL JARIFH010000024;XM_008961938 pseudo 11684187 LOC100981848 protein FAM98B-like 12 12 12 64800918 64802998 - 56866281 56868752 - 54275331 54277926 - 100981848 MODEL JARIFH010000013 pseudo 11684188 BCL7B BAF chromatin remodeling complex subunit BCL7B ASSOCIATED WITH autism spectrum disorder (ortholog); autistic disorder (ortholog); genetic disease (ortholog); FOUND IN SWI/SNF complex (inferred) 7 7 139608747 139630142 + 80688360 80712657 - 100982082 A0A2R9BG31;A0A2R9BJU2 MODEL JARIFH010000008;XM_008968547;XM_034951400;XM_034951401 XP_034807291;XP_034807292 A0A2R9BG31 B-cell CLL/lymphoma 7 protein family member B;BCL tumor suppressor 7B;BCL7B, BAF complex component APPROVED protein-coding ENSPPAG00000037339 11684198 ATM ATM serine/threonine kinase ENCODES a protein that exhibits 1-phosphatidylinositol-3-kinase activity (inferred); ATP binding (inferred); DNA-dependent protein kinase activity (inferred); INVOLVED IN brain development (ortholog); cellular response to ionizing radiation (ortholog); chromosome organization involved in meiotic cell cycle (ortholog); PARTICIPATES IN ataxia telangiectasia-mutated (ATM) signaling pathway; nuclear factor kappa B signaling pathway; p38 MAPK signaling pathway; ASSOCIATED WITH Acute Liver Failure (ortholog); adenocarcinoma (ortholog); adenoid cystic carcinoma (ortholog); FOUND IN chromosome, telomeric region (ortholog); peroxisomal matrix (ortholog) 11 11 11 110061127 110207606 + 106584228 106728457 + 103109979 103256405 + 22301074;30032202 100982830 A0A2R9A1D8 MODEL JARIFH010000012;XM_003828341;XM_003828342;XM_008953733;XM_008953734;XM_008953735;XM_024930596;XM_024930597;XM_024930600;XM_055094794;XM_057299233 XP_054950769;XP_057155216 A0A2R9A1D8 ataxia telangiectasia mutated;serine-protein kinase ATM protein-coding ENSPPAG00000027747 11 106584228 106727041 + 11684286 MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like ENCODES a protein that exhibits ATP binding (inferred); formate-tetrahydrofolate ligase activity (inferred); ligase activity (inferred); INVOLVED IN 10-formyltetrahydrofolate biosynthetic process (inferred); embryonic neurocranium morphogenesis (inferred); embryonic viscerocranium morphogenesis (inferred); PARTICIPATES IN folate cycle metabolic pathway; folate metabolic pathway; hereditary folate malabsorption pathway; ASSOCIATED WITH Craniofacial Abnormalities (ortholog); genetic disease (ortholog); neural tube defect (ortholog); FOUND IN mitochondrion (inferred) 6 6 6 168777226 169016733 + 153384532 153619884 + 148679587 148919002 + 22301074;30032202 100983723 A0A2R9AWQ1;A0A2R9B0N7;A0A2R9B2K3;A0A2R9B2N2 MODEL JARIFH010000007;XM_034963087;XM_034963088;XM_034963089;XM_055114224 XP_034818978;XP_034818979;XP_034818980;XP_054970199 A0A2R9AWQ1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like;monofunctional C1-tetrahydrofolate synthase, mitochondrial;monofunctional C1-tetrahydrofolate synthase, mitochondrial-like APPROVED protein-coding ENSPPAG00000034031 6 153390498 153619884 + 11684326 HTRA4 HtrA serine peptidase 4 ENCODES a protein that exhibits endopeptidase activity (inferred); hydrolase activity (inferred); identical protein binding (inferred); INVOLVED IN proteolysis (inferred); ASSOCIATED WITH autism spectrum disorder (ortholog); genetic disease (ortholog); hereditary spastic paraplegia 54 (ortholog); FOUND IN extracellular region (inferred) 8 8 8 33254067 33268537 + 35450447 35465078 + 38275582 38290058 + 22301074;30032202 100985409 A0A2R9ATF4 MODEL JARIFH010000009;XM_003830711 XP_003830759 A0A2R9ATF4 serine protease HTRA4 protein-coding ENSPPAG00000032700 8 35450447 35465078 + 11684339 SRPX2 sushi repeat containing protein X-linked 2 ENCODES a protein that exhibits hepatocyte growth factor binding (inferred); identical protein binding (inferred); signaling receptor binding (inferred); INVOLVED IN cell motility (inferred); cell-cell adhesion (inferred); positive regulation of cell migration involved in sprouting angiogenesis (inferred); ASSOCIATED WITH autistic disorder (ortholog); developmental and epileptic encephalopathy 9 (ortholog); genetic disease (ortholog); FOUND IN cell surface (ortholog); excitatory synapse (ortholog); synaptic membrane (ortholog) X X X 100253972 100285692 + 99994560 100021241 + 89854389 89886776 + 100985505 A0A2R9BTE1 MODEL JARIFH010000024;XM_003810387;XM_057301081 XP_057157064 A0A2R9BTE1 sushi repeat containing protein, X-linked 2;sushi repeat-containing protein SRPX2 APPROVED protein-coding ENSPPAG00000039226 X 99994560 100021241 + 11684354 RXFP4 relaxin family peptide/INSL5 receptor 4 ENCODES a protein that exhibits G protein-coupled receptor activity (inferred); INVOLVED IN positive regulation of feeding behavior (ortholog); ASSOCIATED WITH Charcot-Marie-Tooth disease type 2 (ortholog); gastrointestinal stromal tumor (ortholog); genetic disease (ortholog); FOUND IN membrane (inferred); plasma membrane (inferred) 1 1 1 93640167 93651884 - 135106869 135108093 + 131275631 131279593 + 22301074;30032202 100985577 A0A2R8ZC43 MODEL JARIFH010000001;XM_034937294;XM_055100456 XP_054956431 A0A2R8ZC43 relaxin-3 receptor 2;relaxin/insulin like family peptide receptor 4 APPROVED protein-coding ENSPPAG00000011483 1 135106884 135108008 + 11684359 GCLM glutamate-cysteine ligase modifier subunit ENCODES a protein that exhibits glutamate-cysteine ligase activity (ortholog); glutamate-cysteine ligase catalytic subunit binding (ortholog); protein-containing complex binding (ortholog); INVOLVED IN apoptotic mitochondrial changes (ortholog); cellular response to fibroblast growth factor stimulus (ortholog); cellular response to follicle-stimulating hormone stimulus (ortholog); PARTICIPATES IN 2-hydroxyglutaric aciduria pathway; cysteine metabolic pathway; glutamic acid/glutamate metabolic pathway; ASSOCIATED WITH berylliosis (ortholog); Chemical and Drug Induced Liver Injury (ortholog); genetic disease (ortholog); FOUND IN glutamate-cysteine ligase complex (ortholog) 1 1 1 132267567 132291710 + 95278665 95298854 - 96548850 96573273 - 30032202 100986608 A0A2R9CBK9 MODEL JARIFH010000001;XM_034931468;XM_034931476 XP_034787359;XP_034787367 A0A2R9CBK9 glutamate--cysteine ligase regulatory subunit protein-coding ENSPPAG00000042369 1 95278665 95297893 - 11684369 NMU neuromedin U ENCODES a protein that exhibits neuromedin U receptor binding (inferred); type 1 neuromedin U receptor binding (inferred); type 2 neuromedin U receptor binding (inferred); INVOLVED IN eating behavior (ortholog); gastric acid secretion (ortholog); negative regulation of eating behavior (ortholog); ASSOCIATED WITH congenital disorder of glycosylation type IIk (ortholog); genetic disease (ortholog); obesity (ortholog); FOUND IN terminal bouton (ortholog) 4 4 4 74361439 74399202 + 74866939 74904965 + 68299538 68340680 + 22301074;30032202 100988833 A0A2R9BKV9;A0A2R9BLK0;A0A2R9BUQ3 MODEL JARIFH010000005;XM_003806476;XM_008954280;XM_008954288 XP_003806524;XP_008952536 A0A2R9BKV9 neuromedin-U protein-coding ENSPPAG00000038124 4 74867364 74904965 + 11684394 UBLCP1 ubiquitin like domain containing CTD phosphatase 1 ENCODES a protein that exhibits metal ion binding (inferred); myosin phosphatase activity (inferred); phosphoprotein phosphatase activity (inferred); INVOLVED IN regulation of proteasome assembly (inferred); ASSOCIATED WITH Breast Neoplasms (ortholog); genetic disease (ortholog); FOUND IN nucleolus (inferred); nucleoplasm (inferred); nucleus (inferred) 5 5 5 152588746 152611827 + 161271839 161294639 + 154655018 154677794 + 22301074;30032202 100989253 A0A2R9AF35 MODEL JARIFH010000006;XM_003819000 XP_003819048 A0A2R9AF35 ubiquitin-like domain-containing CTD phosphatase 1 protein-coding ENSPPAG00000031061 5 161271844 161294643 + 11684409 MPDZ multiple PDZ domain crumbs cell polarity complex component INVOLVED IN cell adhesion (ortholog); dendrite development (ortholog); intracellular protein transport (ortholog); ASSOCIATED WITH autism spectrum disorder (ortholog); Congenital Hydrocephalus 2, with or without Brain or Eye Anomalies (ortholog); genetic disease (ortholog); FOUND IN apical plasma membrane (ortholog); cytoplasmic vesicle (ortholog); glutamatergic synapse (ortholog) 9 9 9 111259645 111436524 + 13390642 13564246 - 12943252 13120126 - 22301074 100989616 A0A2R9A182;A0A2R9A2A5;A0A2R9A5E9;A0A2R9A6J9 MODEL JARIFH010000010;XM_034967134;XM_034967135;XM_034967136;XM_034967137;XM_034967138;XM_034967139;XM_034967140;XM_034967141;XM_034967142;XM_034967144;XM_034967145;XM_034967146;XM_034967147;XM_034967148;XM_034967149;XM_034967150;XM_034967151;XM_034967152;XM_034967153;XM_034967155;XM_034967156;XM_034967157;XM_034967158;XM_034967159;XM_034967160;XM_034967161;XM_034967162;XM_034967163;XM_055092129;XM_055092130;XM_055092131;XM_055092132;XM_055092133;XM_057298754;XM_057298755;XM_057298756;XM_057298757;XM_057298758;XM_057298759;XM_057298760 XP_034823025;XP_034823026;XP_034823027;XP_034823028;XP_034823030;XP_034823037;XP_034823039;XP_034823041;XP_034823046;XP_034823048;XP_034823052;XP_054948104;XP_054948105;XP_054948106;XP_054948107;XP_054948108;XP_057154737;XP_057154738;XP_057154739;XP_057154740;XP_057154741;XP_057154742;XP_057154743 A0A2R9A6J9 protein-coding ENSPPAG00000028619 9 13391903 13535292 - 11684470 IL22RA1 interleukin 22 receptor subunit alpha 1 ENCODES a protein that exhibits interleukin-20 binding (inferred); interleukin-22 receptor activity (inferred); INVOLVED IN defense response to Gram-negative bacterium (ortholog); ASSOCIATED WITH 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (ortholog); genetic disease (ortholog); Rhinosinusitis (ortholog); FOUND IN membrane (inferred) 1 1 1 201883178 201914288 + 24300902 24324391 - 23322057 23345557 - 22301074 100989661 A0A2R9B5I5 MODEL JARIFH010000001;XM_003810766 XP_003810814 A0A2R9B5I5 interleukin-22 receptor subunit alpha-1 protein-coding ENSPPAG00000035561 1 24300902 24324391 - 11684481 UBXN7 UBX domain protein 7 ENCODES a protein that exhibits RNA polymerase II-specific DNA-binding transcription factor binding (inferred); ubiquitin binding (inferred); ubiquitin protein ligase binding (inferred); ASSOCIATED WITH autistic disorder (ortholog); chromosome 3q29 microdeletion syndrome (ortholog); genetic disease (ortholog); FOUND IN nucleoplasm (inferred); VCP-NPL4-UFD1 AAA ATPase complex (inferred) 3 3 3 194224593 194310043 - 203643418 203719245 - 193699924 193778452 - 30032202 100989736 A0A2R9AMC7;A0A2R9AMF7;A0A2R9AN19 MODEL JARIFH010000004;XM_003806418 XP_003806466 A0A2R9AMC7 UBX domain-containing protein 7 protein-coding ENSPPAG00000032351 3 203643126 203719317 - 11684496 TEX13C TEX13 family member C ASSOCIATED WITH autistic disorder (ortholog) X X X 124801313 124806001 + 124688171 124690283 + 114516749 114519112 + 100990309 MODEL JARIFH010000024;XM_008976719;XM_055106657 XP_008974967;XP_054962632 putative testis-expressed protein 13C protein-coding 11684499 AIFM1 apoptosis inducing factor mitochondria associated 1 ENCODES a protein that exhibits DNA binding (inferred); FAD binding (inferred); flavin adenine dinucleotide binding (inferred); INVOLVED IN cellular response to aldosterone (ortholog); cellular response to estradiol stimulus (ortholog); cellular response to hydrogen peroxide (ortholog); PARTICIPATES IN ceramide signaling pathway; ASSOCIATED WITH Alzheimer's disease (ortholog); autistic disorder (ortholog); autosomal recessive nonsyndromic deafness 9 (ortholog); FOUND IN nucleus (ortholog) X X X 129551733 129589827 - 129550287 129586271 - 119256425 119292612 - 22301074;30032202 100991065 A0A2R9AMY8;A0A2R9AMY9;A0A2R9AMZ1;A0A2R9ASH6;A0A2R9AUY0 MODEL JARIFH010000024;XM_034949662;XM_034949664;XM_034949665 XP_034805553;XP_034805555;XP_034805556 A0A2R9AMY8 apoptosis-inducing factor 1, mitochondrial protein-coding ENSPPAG00000032488 X 129550287 129586271 - 11684526 SECISBP2L SECIS binding protein 2 like ENCODES a protein that exhibits selenocysteine insertion sequence binding (inferred); ASSOCIATED WITH Bloom syndrome (ortholog); colorectal cancer (ortholog); genetic disease (ortholog) 15 15 15 42412792 42509404 - 46260387 46318035 - 27937192 28033830 - 30032202 100992289 A0A2R9BAV8;A0A2R9BEL6 MODEL JARIFH010000016;XM_003831490;XM_003831491;XM_034938731 XP_003831538;XP_003831539;XP_034794622 A0A2R9BAV8 selenocysteine insertion sequence-binding protein 2-like protein-coding ENSPPAG00000036433 15 46260387 46318036 - 11684551 AMTN amelotin INVOLVED IN odontogenesis of dentin-containing tooth (inferred); positive regulation of biomineral tissue development (inferred); positive regulation of enamel mineralization (inferred); ASSOCIATED WITH amelogenesis imperfecta type 3B (ortholog); genetic disease (ortholog); FOUND IN basement membrane (inferred); cell-cell junction (inferred); extracellular matrix (inferred) 4 4 4 59747310 59761467 - 60036818 60050965 - 53691674 53705831 - 22301074;30032202 100994564 A0A2R9C3N3;A0A2R9CDZ9 MODEL JARIFH010000005;XM_003808993;XM_008961149;XM_057302242 XP_003809041;XP_057158225 A0A2R9CDZ9 protein-coding ENSPPAG00000041027 4 60036818 60050965 - 11684566 HMGN1 high mobility group nucleosome binding domain 1 ENCODES a protein that exhibits chromatin binding (ortholog); INVOLVED IN chromatin organization (ortholog); post-embryonic camera-type eye morphogenesis (ortholog); pyrimidine dimer repair by nucleotide-excision repair (ortholog); PARTICIPATES IN nucleotide excision repair pathway; ASSOCIATED WITH autistic disorder (ortholog); genetic disease (ortholog); Neoplastic Cell Transformation (ortholog); FOUND IN female germ cell nucleus (ortholog); nucleoplasm (ortholog) 21 21 21 30295901 30302764 - 39034042 39040978 - 25695582 25702689 - 22301074;30032202 100995212 A0A2R9AL79;A0A2R9AQR9;A0A2R9AQS8 MODEL JARIFH010000022;XM_034947875;XM_034947876;XM_034947877;XM_034947878;XM_055105198 XP_034803768;XP_034803769;XP_054961173 A0A2R9AQR9 non-histone chromosomal protein HMG-14 protein-coding ENSPPAG00000032181 11684575 LOC100995812 60S ribosomal protein L23a-like 6 6 188770945 188799194 - 168759220 168778833 - 100995812 MODEL JARIFH010000007;XR_004672303 60S ribosomal protein L23a pseudogene;uncharacterized LOC100995812 APPROVED pseudo 11684576 LOC100995986 60S ribosomal protein L12-like ENCODES a protein that exhibits structural constituent of ribosome (inferred); INVOLVED IN translation (inferred); FOUND IN ribonucleoprotein complex (inferred); ribosome (inferred) 6 6 6 47428354 47431924 + 37848113 37848676 + 36653230 36653868 + 22301074;30032202 100995986 A0A2R8ZCZ6;A0A2R8ZEU6 MODEL JARIFH010000007;XM_034963347;XM_055114425 XP_054970400 A0A2R8ZCZ6;A0A2R8ZEU6 60S ribosomal protein L12 pseudogene APPROVED protein-coding ENSPPAG00000004830;ENSPPAG00000012064 11684582 LOC103785507 uncharacterized LOC103785507 20 20 20 56672984 56687204 + 48402143 48416566 + 47275850 47289781 + 103785507 MODEL JARIFH010000021;XM_034947249;XR_004668199;XR_004668200;XR_008622315;XR_008955117 arginine-fifty homeobox-like APPROVED ncrna 11684592 LOC106634347 double homeobox protein 4-like protein 4 15 19073253 19074520 + 106634347 MODEL JARIFH010000016 LOC100975347 double homeobox protein 4C-like APPROVED pseudo 11684593 LOC106634488 uncharacterized LOC106634488 2A 2A 2A 16592630 16877672 + 112424394 112425647 - 90537684 90822709 + 106634488 MODEL JARIFH010000002;XR_001337858;XR_004669962;XR_004669963;XR_004669964;XR_004669965;XR_004669966;XR_008624277;XR_008624278;XR_008624279;XR_008624280;XR_008955244 LOC100976365 uncharacterized LOC100976365 PROVISIONAL ncrna 11684598 LOC100967722 HAUS augmin-like complex subunit 4 1 1 1 79064369 79065253 + 149575270 149576159 - 145859392 145860279 - 100967722 MODEL JARIFH010000001 HAUS augmin-like complex subunit 4 pseudogene APPROVED pseudo 11684599 CEP170 centrosomal protein 170 ASSOCIATED WITH developmental and epileptic encephalopathy 54 (ortholog); gastrointestinal stromal tumor (ortholog); genetic disease (ortholog); FOUND IN centriolar subdistal appendage (inferred); centriole (inferred); centrosome (inferred) 1 1 1 6111383 6243782 + 224107145 224238990 - 218726142 218856585 - 22301074;30032202 100968055 A0A2R9BQB9;A0A2R9BQG5;A0A2R9BQH8;A0A2R9BTZ9;A0A2R9BU15 MODEL JARIFH010000001;XM_003807998;XM_003807999;XM_003808000;XM_008960096;XM_008960097;XM_008960098;XM_008960099;XM_008960102;XM_034949927;XM_055095420;XM_055095440;XM_055095467;XM_055095476;XM_055095510;XM_055095544;XM_055095565;XM_055095595;XM_055095680;XM_055095766;XM_055095841;XM_055095872;XM_055095920;XM_055095951;XM_055095974;XM_055096002;XM_055096021;XM_055096057;XM_055096081;XM_055096103;XM_055096140 XP_003808046;XP_003808047;XP_003808048;XP_008958344;XP_008958345;XP_008958346;XP_008958347;XP_008958350;XP_054951395;XP_054951415;XP_054951442;XP_054951451;XP_054951485;XP_054951519;XP_054951540;XP_054951570;XP_054951655;XP_054951741;XP_054951816;XP_054951847;XP_054951895;XP_054951926;XP_054951949;XP_054951977;XP_054951996;XP_054952032;XP_054952056;XP_054952078;XP_054952115 A0A2R9BQG5 centrosomal protein of 170 kDa protein-coding ENSPPAG00000038692 1 224107145 224238813 - 11684636 ESRP1 epithelial splicing regulatory protein 1 ENCODES a protein that exhibits mRNA binding (inferred); nucleic acid binding (inferred); RNA binding (inferred); INVOLVED IN alternative mRNA splicing, via spliceosome (ortholog); branching involved in salivary gland morphogenesis (ortholog); epithelial cell proliferation (ortholog); ASSOCIATED WITH autosomal recessive nonsyndromic deafness 109 (ortholog); genetic disease (ortholog); FOUND IN nuclear body (inferred); nucleoplasm (inferred); nucleus (inferred) 8 8 8 87507763 87574229 + 93202915 93532172 + 91261488 91327990 + 30032202 100969192 A0A2R9BFZ3;A0A2R9BGX7;A0A2R9BPJ3 MODEL JARIFH010000009;XM_008974602;XM_024929888;XM_024929889;XM_024929890;XM_024929891;XM_024929892;XM_024929893;XM_057303053;XM_057303054 XP_024785656;XP_024785657;XP_024785658;XP_024785660;XP_024785661;XP_057159036;XP_057159037 A0A2R9BPJ3 LOC100969192;LOC100973785 PROVISIONAL protein-coding ENSPPAG00000037294 8 93203198 93530653 + 11684650 SAMD3 sterile alpha motif domain containing 3 ASSOCIATED WITH genetic disease (ortholog) 6 6 6 148053804 148132247 - 132048638 132126440 - 127941052 128019570 - 22301074 100969248 A0A2R9AP27;A0A2R9APK1;A0A2R9ATJ8 MODEL JARIFH010000007;XM_003827645 XP_003827693 A0A2R9AP27 sterile alpha motif domain-containing protein 3 protein-coding ENSPPAG00000032715 6 132048638 132126440 - 11684679 CISH cytokine inducible SH2 containing protein INVOLVED IN cytokine-mediated signaling pathway (ortholog); protein kinase C-activating G protein-coupled receptor signaling pathway (ortholog); PARTICIPATES IN granulocyte-macrophage colony-stimulating factor signaling pathway; interleukin-2 signaling pathway; interleukin-3 signaling pathway; ASSOCIATED WITH allergic contact dermatitis (ortholog); Bacteremia (ortholog); developmental and epileptic encephalopathy (ortholog); FOUND IN plasma membrane (inferred) 3 3 3 50591174 50596668 - 51769194 51774548 - 50531870 50537319 - 22301074;30032202 100969527 A0A2R9BYJ5;A0A2R9C4W1 MODEL JARIFH010000004;XM_003818802;XM_057301774 XP_003818850;XP_057157757 A0A2R9BYJ5 protein-coding ENSPPAG00000039642 3 51769194 51774548 - 11684693 C20H20orf144 chromosome 20 C20orf144 homolog ASSOCIATED WITH genetic disease (ortholog); long QT syndrome (ortholog) 20 20 20 39344454 39349684 + 31090638 31092358 + 29949587 29951317 + 100971455 A0A2R9CEK9 MODEL JARIFH010000021;XM_003831812 XP_003831860 A0A2R9CEK9 chromosome 20 open reading frame, human C20orf144;uncharacterized protein C20orf144 homolog APPROVED protein-coding ENSPPAG00000042847 20 31090638 31092358 + 11684699 ORMDL3 ORMDL sphingolipid biosynthesis regulator 3 INVOLVED IN motor behavior (ortholog); myelination (ortholog); negative regulation of B cell apoptotic process (ortholog); ASSOCIATED WITH asthma (ortholog); genetic disease (ortholog); hypertrophic cardiomyopathy 25 (ortholog); FOUND IN endoplasmic reticulum (inferred); endoplasmic reticulum membrane (inferred); membrane (inferred) 17 17 17 26920795 26928871 + 17581001 17587741 + 17361624 17368194 + 22301074;30032202 100972934 A0A2R9BAU9 MODEL JARIFH010000018;XM_003831436;XM_003831439;XM_008956788 XP_003831484;XP_003831487;XP_008955036 A0A2R9BAU9 ORM1-like 3;ORM1-like protein 3 protein-coding ENSPPAG00000036453 17 17581612 17587741 + 11684714 LOC100974147 ferritin heavy chain-like 2B 2B 2B 83536223 83540659 - 185947623 185948547 - 68135175 68157098 - 100974147 MODEL JARIFH010000003;XM_024927993 ferritin heavy chain pseudogene APPROVED pseudo 11684717 CWH43 cell wall biogenesis 43 C-terminal homolog ASSOCIATED WITH genetic disease (ortholog); Lung Neoplasms (ortholog); normal pressure hydrocephalus (ortholog); FOUND IN membrane (inferred) 4 4 4 79063990 79140250 - 83820735 83896192 - 73092093 73168001 - 30032202 100974436 A0A2R9BZV0 MODEL JARIFH010000005;XM_003816002;XM_003816003 XP_003816050 A0A2R9BZV0 protein-coding ENSPPAG00000039872 4 83820733 83896296 - 11684740 GPC6 glypican 6 INVOLVED IN regulation of neurotransmitter receptor localization to postsynaptic specialization membrane (ortholog); PARTICIPATES IN Hedgehog signaling pathway; ASSOCIATED WITH Anal Atresia, Hypospadias, and Penoscrotal Inversion (ortholog); Congenital Limb Deformities (ortholog); Craniofacial Abnormalities (ortholog); FOUND IN glutamatergic synapse (ortholog); synapse (ortholog) 13 13 13 93433119 94612958 + 93556152 94744052 + 74408999 75588065 + 22301074;30032202 100975429 A0A2R9BJL7 MODEL JARIFH010000014;XM_003832020;XM_034936849 XP_003832068;XP_034792740 A0A2R9BJL7 glypican-6 protein-coding ENSPPAG00000037789 13 93874849 94739894 + 11684756 RNF41 ring finger protein 41 ENCODES a protein that exhibits erythropoietin receptor binding (inferred); identical protein binding (inferred); interleukin-3 receptor binding (inferred); INVOLVED IN negative regulation of cell migration (ortholog); negative regulation of cell population proliferation (ortholog); negative regulation of mitophagy (ortholog); ASSOCIATED WITH congenital heart disease (ortholog); genetic disease (ortholog); Myocardial Reperfusion Injury (ortholog); FOUND IN endoplasmic reticulum tubular network (inferred); perinuclear region of cytoplasm (inferred) 12 12 12 38106825 38127001 + 32944791 32962584 + 32693349 32710866 + 22301074;30032202 100975482 A0A2R9A9W7 MODEL JARIFH010000013;XM_003824926;XM_003824927;XM_008978609 XP_003824974;XP_003824975;XP_008976857 A0A2R9A9W7 E3 ubiquitin-protein ligase NRDP1 protein-coding ENSPPAG00000029406 12 32944814 32962584 + 11684773 LNPEP leucyl and cystinyl aminopeptidase ENCODES a protein that exhibits aminopeptidase activity (ortholog); INVOLVED IN neuropeptide catabolic process (ortholog); peptide catabolic process (ortholog); positive regulation of blood pressure (ortholog); PARTICIPATES IN angiotensin IV signaling pathway; insulin responsive facilitative sugar transporter mediated glucose transport pathway; long term potentiation; ASSOCIATED WITH breast cancer (ortholog); Diabetic Nephropathies (ortholog); Endometrial Neoplasms (ortholog); FOUND IN cell surface (ortholog); insulin-responsive compartment (ortholog); neuronal cell body (ortholog) 5 5 5 90338199 90476858 + 97800922 97902830 + 92247060 92348900 + 22301074;30032202 100975663 A0A2R9BS90 MODEL JARIFH010000006;XM_034960259;XM_055112495;XR_008625402;XR_008625403 XP_034816150;XP_054968470 A0A2R9BS90 leucyl-cystinyl aminopeptidase;leucyl/cystinyl aminopeptidase protein-coding ENSPPAG00000038572 5 97842110 97893876 + 11684796 LOC100976202 TBC1 domain family member 3F-like 17 17 17 38910247 38916218 - 29839920 29851768 - 29341779 29353814 - 100976202 A0A2R8Z943 MODEL JARIFH010000018 A0A2R8Z943 TBC1 domain family member 3I-like APPROVED pseudo ENSPPAG00000006117 11684798 BTRC beta-transducin repeat containing E3 ubiquitin protein ligase ENCODES a protein that exhibits beta-catenin binding (inferred); protein dimerization activity (inferred); protein phosphorylated amino acid binding (inferred); INVOLVED IN branching involved in mammary gland duct morphogenesis (ortholog); cellular response to organic cyclic compound (ortholog); mammary gland epithelial cell proliferation (ortholog); PARTICIPATES IN Hedgehog signaling pathway; nuclear factor kappa B signaling pathway; nuclear factor, erythroid 2 like 2 signaling pathway; ASSOCIATED WITH genetic disease (ortholog); split hand-foot malformation (ortholog); FOUND IN cytoplasm (inferred); nucleus (inferred); SCF ubiquitin ligase complex (inferred) 10 10 10 113247526 113448549 + 101431318 101632496 + 97958527 98159550 + 22301074 100977066 A0A2R9AZL0;A0A2R9AZQ9;A0A2R9B0L6;A0A2R9B0N4;A0A2R9B0P5;A0A2R9B3D4;A0A2R9B3J6;A0A2R9B5F3 MODEL JARIFH010000011;XM_003825488;XM_003825489;XM_008950822;XM_008950824;XM_034931326;XM_034931327;XM_034931328;XM_034931329;XM_055093294;XM_055093295;XM_055093296;XM_055093297;XM_055093298 XP_003825537;XP_008949072;XP_034787217;XP_034787218;XP_034787220;XP_054949269;XP_054949270;XP_054949271;XP_054949272;XP_054949273 A0A2R9B5F3 F-box/WD repeat-containing protein 1A protein-coding ENSPPAG00000034237 10 101431318 101632496 + 11684825 ARHGEF25 Rho guanine nucleotide exchange factor 25 ENCODES a protein that exhibits guanyl-nucleotide exchange factor activity (inferred); ASSOCIATED WITH familial melanoma (ortholog); genetic disease (ortholog); paraplegia (ortholog); FOUND IN myofibril (ortholog); plasma membrane (ortholog) 12 12 12 36720510 36726370 - 31569173 31575966 - 31309527 31316648 - 22301074;30032202 100977182 A0A2R9CH74;A0A2R9CHD5 MODEL DQ977231;JARIFH010000013;XM_008978478;XM_008978479;XM_008978480;XM_008978481;XM_008978483;XM_055095471;XM_055095472;XM_055095473 ABM54304;XP_008976731;XP_054951446;XP_054951447;XP_054951448 A0A2R9CH74 SLC26A10 protein-coding ENSPPAG00000043262 12 31569173 31575971 - 11684861 TP53RK TP53 regulating kinase ENCODES a protein that exhibits ATP binding (inferred); kinase activity (inferred); nucleotide binding (inferred); INVOLVED IN phosphorylation (inferred); tRNA processing (inferred); ASSOCIATED WITH Developmental Disabilities (ortholog); focal epilepsy (ortholog); Galloway-Mowat syndrome (ortholog); FOUND IN cytoplasm (inferred); EKC/KEOPS complex (inferred); nucleus (inferred) 20 20 20 52414926 52419262 - 44101668 44107807 - 43019398 43022445 - 22301074;30032202 100978080 A0A2R9BNQ8 MODEL JARIFH010000021;XM_003826010 XP_003826058 A0A2R9BNQ8 EKC/KEOPS complex subunit TP53RK;TP53-regulating kinase protein-coding ENSPPAG00000038588 20 44101668 44107497 - 11684867 NFKB1 nuclear factor kappa B subunit 1 ENCODES a protein that exhibits double-stranded DNA binding (ortholog); heat shock protein binding (ortholog); identical protein binding (ortholog); INVOLVED IN cellular response to brain-derived neurotrophic factor stimulus (ortholog); cellular response to carbohydrate stimulus (ortholog); cellular response to cytokine stimulus (ortholog); PARTICIPATES IN adenosine signaling pathway; ceramide signaling pathway; erythropoietin signaling pathway; ASSOCIATED WITH acute kidney failure (ortholog); adenocarcinoma (ortholog); alcoholic hepatitis (ortholog); FOUND IN NF-kappaB p50/p65 complex (ortholog); nucleus (ortholog); protein-containing complex (ortholog) 4 4 4 100871776 100987238 + 105589062 105704098 + 94925048 95040849 + 22301074;30032202 100979341 A0A2R9AKQ2;A0A2R9AST7 MODEL JARIFH010000005;XM_003829955;XM_008955333;XM_024928587;XM_034958948 XP_003830003;XP_008953581 A0A2R9AST7 nuclear factor NF-kappa-B p105 subunit protein-coding ENSPPAG00000032087 4 105589062 105704098 + 11684900 CACNA1B calcium voltage-gated channel subunit alpha1 B ENCODES a protein that exhibits high voltage-gated calcium channel activity (ortholog); protein phosphatase 2A binding (ortholog); voltage-gated calcium channel activity (ortholog); INVOLVED IN calcium ion import (ortholog); calcium ion transmembrane transport (ortholog); calcium ion transport (ortholog); PARTICIPATES IN calcium transport pathway; calcium/calcium-mediated signaling pathway; ASSOCIATED WITH Adams-Oliver Syndrome 5 (ortholog); autosomal dominant intellectual developmental disorder 8 (ortholog); brain edema (ortholog); FOUND IN axon terminus (ortholog); basolateral plasma membrane (ortholog); dendrite (ortholog) 9 9 9 1218419 1472359 - 137935165 138147969 + 108989621 109256841 + 22301074;30032202 100979369 MODEL JARIFH010000010;XM_034929684;XM_034929685;XM_034929686;XM_034929687;XM_034929688;XM_034929689;XM_034929690;XM_034929691;XM_034929693;XM_034929694;XM_034929695;XM_034929696;XM_034929697;XM_055117376;XM_055117377;XM_055117379;XM_055117380;XM_055117381;XM_055117382;XM_055117383;XM_055117384;XM_055117385;XM_055117386;XR_004664440;XR_004664441;XR_004664442;XR_004664443;XR_008626611;XR_008626612 XP_034785580;XP_034785585;XP_054973351;XP_054973352;XP_054973354;XP_054973355;XP_054973356;XP_054973357;XP_054973358;XP_054973359;XP_054973360;XP_054973361 voltage-dependent N-type calcium channel subunit alpha-1B protein-coding 11684962 LOC100984263 poly(rC)-binding protein 2-like 21 21 21 30124075 30131829 - 38871719 38872668 - 25521458 25522911 - 100984263 MODEL JARIFH010000022 poly(rC)-binding protein 2 pseudogene APPROVED pseudo 11684963 UMODL1 uromodulin like 1 ENCODES a protein that exhibits calcium ion binding (inferred); peptidase inhibitor activity (inferred); INVOLVED IN adipose tissue development (ortholog); cellular response to gonadotropin-releasing hormone (ortholog); multicellular organismal reproductive process (ortholog); ASSOCIATED WITH cataract 9 multiple types (ortholog); developmental and epileptic encephalopathy 30 (ortholog); genetic disease (ortholog); FOUND IN cell periphery (inferred); external side of plasma membrane (inferred); extracellular region (inferred) 21 21 21 32996103 33064340 + 41717761 41788042 + 28394457 28462082 + 22301074;30032202 100984485 A0A2R8ZCL1;A0A2R8ZGI6 MODEL JARIFH010000022;XM_034948201;XM_055105199 XP_054961174 A0A2R8ZGI6 uromodulin-like 1 protein-coding ENSPPAG00000011906 21 41717761 41783172 + 11684988 SIDT2 SID1 transmembrane family member 2 ENCODES a protein that exhibits AP-1 adaptor complex binding (inferred); AP-2 adaptor complex binding (inferred); double-stranded RNA binding (inferred); INVOLVED IN cell morphogenesis (ortholog); glucose homeostasis (ortholog); regulation of insulin secretion involved in cellular response to glucose stimulus (ortholog); ASSOCIATED WITH CD3epsilon deficiency (ortholog); Chromosome 11, Partial Trisomy 11q (ortholog); Dwarfism (ortholog); FOUND IN lysosomal membrane (inferred); lysosome (inferred); membrane (inferred) 11 11 11 118984406 119003060 + 115945562 115964787 + 112012734 112031403 + 22301074;30032202 100985326 A0A2R9A7R5;A0A2R9A7U3;A0A2R9ACT1;A0A2R9ACY0;A0A2R9ACY7 MODEL JARIFH010000012;XM_024930697;XM_024930698;XM_024930700;XM_034933787;XM_055094904;XM_055094905;XM_055094906;XM_055094907;XM_055094908 XP_024786465;XP_024786466;XP_024786468;XP_034789678;XP_054950879;XP_054950880;XP_054950881;XP_054950882;XP_054950883 A0A2R9ACY7 protein-coding ENSPPAG00000029761 11 115946725 115963408 + 11685019 NCLN nicalin ENCODES a protein that exhibits ribosome binding (inferred); INVOLVED IN multi-pass transmembrane protein insertion into ER membrane (inferred); protein stabilization (inferred); regulation of protein complex stability (inferred); ASSOCIATED WITH genetic disease (ortholog); Hirschsprung's disease (ortholog); Neurodevelopmental Disorders (ortholog); FOUND IN endoplasmic reticulum membrane (ortholog) 19 19 19 6815021 6838924 + 3166042 3189681 + 2211474 2235691 + 22301074;30032202 100985442 A0A2R9CID7;A0A2R9CIF4 MODEL JARIFH010000020;XM_003819248;XM_008972607;XM_034944375;XR_008622002;XR_008622003 XP_003819296;XP_008970855 A0A2R9CID7 BOS complex subunit NCLN protein-coding ENSPPAG00000043465 19 3166042 3189681 + 11685043 ULBP2 UL16 binding protein 2 ENCODES a protein that exhibits natural killer cell lectin-like receptor binding (ortholog); INVOLVED IN natural killer cell activation (ortholog); natural killer cell mediated cytotoxicity (ortholog); ASSOCIATED WITH genetic disease (ortholog); Stomach Neoplasms (ortholog); FOUND IN cell surface (ortholog); extracellular space (ortholog); intracellular membrane-bounded organelle (ortholog) 6 6 6 167822010 167851941 + 152533641 152541992 - 147744025 147751795 + 30032202 100985629 MODEL JARIFH010000007;XM_034963076;XM_034963077;XM_055114220;XM_057302610 XP_034818967;XP_054970195;XP_057158593 LOC100985629;LOC103784950;LOC117980735;RAET1L UL16-binding protein 2;UL16-binding protein 6;retinoic acid early transcript 1L;uncharacterized LOC103784950;uncharacterized LOC117980735;uncharacterized protein LOC117980735 APPROVED protein-coding ENSPPAG00000012588 11685052 ZNF207 zinc finger protein 207 ENCODES a protein that exhibits heparin binding (inferred); microtubule binding (inferred); INVOLVED IN attachment of spindle microtubules to kinetochore (ortholog); mitotic sister chromatid segregation (ortholog); mitotic spindle assembly checkpoint signaling (ortholog); ASSOCIATED WITH genetic disease (ortholog); FOUND IN kinetochore (ortholog); nucleolus (ortholog); nucleoplasm (ortholog) 17 17 17 33955086 33986713 - 24693863 24714296 - 24405632 24425868 - 30032202 100985783 A0A2R9AL51;A0A2R9AL87;A0A2R9ALE5;A0A2R9ALJ6;A0A2R9ALR8;A0A2R9AR02;A0A2R9AR06;A0A2R9AT74 MODEL JARIFH010000018;XM_003818019;XM_003818020;XM_003818021;XM_008971286;XM_034942116;XM_055101293;XM_055101294;XM_055101295;XM_055101296 XP_003818067;XP_003818068;XP_003818069;XP_008969534;XP_054957268;XP_054957269;XP_054957270;XP_054957271 A0A2R9AR02 BUB3-interacting and GLEBS motif-containing protein ZNF207 protein-coding ENSPPAG00000032098 17 24690903 24714628 - 11685079 LOC100985838 uncharacterized LOC100985838 ASSOCIATED WITH Bloom syndrome (ortholog); colorectal cancer (ortholog); genetic disease (ortholog) 15 15 15 33676107 33708805 + 37540075 37545461 + 19224767 19290520 + 100985838 MODEL JARIFH010000016;XM_008951969;XM_034938526;XR_008621053 PHGR1 proline, histidine and glycine rich 1;proline, histidine and glycine-rich protein 1 APPROVED protein-coding 11685087 CCNY cyclin Y ENCODES a protein that exhibits cyclin-dependent protein serine/threonine kinase regulator activity (inferred); protein kinase binding (inferred); INVOLVED IN G2/M transition of mitotic cell cycle (inferred); positive regulation of autophagy (inferred); regulation of canonical Wnt signaling pathway (inferred); ASSOCIATED WITH Crohn's disease (ortholog); genetic disease (ortholog); ulcerative colitis (ortholog); FOUND IN cyclin-dependent protein kinase holoenzyme complex (ortholog) 10 10 10 47895744 48224256 + 35950490 36273282 + 35458092 35698142 + 22301074;30032202 100986535 A0A2R8ZQK7;A0A2R8ZQL2;A0A2R8ZRT2;A0A2R8ZTR2 MODEL JARIFH010000011;XM_003814777;XM_008967566;XM_008967570;XM_034930293;XM_055092649;XM_055092650;XM_055092651;XM_055092652;XM_055092653;XM_055092654;XM_055092655;XM_055092656;XM_055092657 XP_003814825;XP_008965818;XP_054948624;XP_054948625;XP_054948626;XP_054948627;XP_054948628;XP_054948629;XP_054948630;XP_054948631;XP_054948632 A0A2R8ZQK7 LOC117974547 cyclin-Y;uncharacterized LOC117974547 PROVISIONAL protein-coding ENSPPAG00000026390 10 36035729 36273282 + 11685119 TIE1 tyrosine kinase with immunoglobulin like and EGF like domains 1 ENCODES a protein that exhibits ATP binding (inferred); nucleotide binding (inferred); protein kinase activity (inferred); INVOLVED IN blood vessel development (ortholog); in utero embryonic development (ortholog); lymphatic endothelial cell differentiation (ortholog); ASSOCIATED WITH Charcot-Marie-Tooth disease dominant intermediate C (ortholog); genetic disease (ortholog); Lymphatic Malformation 11 (ortholog); FOUND IN membrane (inferred); plasma membrane (inferred) 1 1 1 182628363 182650510 - 43979838 44002167 + 42602333 42624471 + 22301074;30032202 100988001 A0A2R9BCE1;A0A2R9BKS1 MODEL JARIFH010000001;XM_003812850;XM_008965351 XP_003812898;XP_008963599 A0A2R9BKS1 tyrosine-protein kinase receptor Tie-1 protein-coding ENSPPAG00000036693 1 43979838 44002167 + 11685149 LOC100989108 60S ribosomal protein L18-like 11 11 11 41343618 41440634 + 38958937 38975736 + 39090610 39107437 + 100989108 MODEL JARIFH010000012 60S ribosomal protein L18 pseudogene APPROVED pseudo 11685150 ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 ENCODES a protein that exhibits acyltransferase activity (inferred); palmitoyltransferase activity (inferred); protein-cysteine S-palmitoyltransferase activity (inferred); INVOLVED IN positive regulation by host of viral process (inferred); ASSOCIATED WITH autism spectrum disorder (ortholog); autistic disorder (ortholog); genetic disease (ortholog); FOUND IN cytosol (inferred); endoplasmic reticulum (inferred); Golgi apparatus (inferred) X X X 129230131 129270455 - 129230556 129270665 - 118932986 118973238 - 30032202 100989252 A0A2R9BRD8 MODEL JARIFH010000024;XM_003818930;XM_008972346 XP_003818978;XP_008970594 A0A2R9BRD8 palmitoyltransferase ZDHHC9;zinc finger DHHC-type containing 9 APPROVED protein-coding ENSPPAG00000038981 X 129230571 129270665 - 11685174 ESPN espin ENCODES a protein that exhibits actin filament binding (ortholog); SH3 domain binding (ortholog); INVOLVED IN actin filament bundle assembly (ortholog); locomotory behavior (ortholog); microvillar actin bundle assembly (ortholog); PARTICIPATES IN auditory mechanotransduction pathway; ASSOCIATED WITH autosomal recessive nonsyndromic deafness (ortholog); autosomal recessive nonsyndromic deafness 36 (ortholog); chromosome 1p36 deletion syndrome (ortholog); FOUND IN actin cytoskeleton (ortholog); brush border (ortholog); cytoplasm (ortholog) 1 1 1 220409018 220446247 - 6440951 6475253 + 5184666 5222473 + 30032202 100989501 MODEL JARIFH010000001;XM_034954221;XM_034954229;XM_034954231;XM_034954238;XM_034954244;XM_034954252;XM_034954260;XM_034954264;XM_034954267;XM_034954273;XM_034954280 XP_034810112;XP_034810122;XP_034810129;XP_034810135;XP_034810143;XP_034810151;XP_034810155;XP_034810164 protein-coding 11685189 NOL3 nucleolar protein 3 ENCODES a protein that exhibits calcium ion binding (ortholog); caspase binding (ortholog); cysteine-type endopeptidase inhibitor activity involved in apoptotic process (ortholog); INVOLVED IN blood vessel remodeling (ortholog); cardiac muscle cell apoptotic process (ortholog); cellular response to hydrogen peroxide (ortholog); ASSOCIATED WITH autosomal dominant dyskeratosis congenita 6 (ortholog); cataract 5 multiple types (ortholog); COVID-19 (ortholog); FOUND IN cytoplasm (ortholog); mitochondrion (ortholog); nucleolus (ortholog) 16 16 16 82612801 82618419 + 66904738 66909956 + 47516156 47521441 + 30032202 100989558 A0A2R9C0M4;A0A2R9C3N4 MODEL JARIFH010000017;XM_008964619;XM_008964621;XM_008964622;XM_014341788;XM_057300054 XP_008962867;XP_008962869;XP_008962870;XP_057156037 A0A2R9C0M4 protein-coding ENSPPAG00000040533 16 66904738 66909956 + 11685210 SERTAD1 SERTA domain containing 1 INVOLVED IN negative regulation of cell growth (ortholog); positive regulation of DNA-templated transcription (ortholog); positive regulation of transcription by RNA polymerase II (ortholog); ASSOCIATED WITH Carpenter Syndrome 2 (ortholog); Colonic Neoplasms (ortholog); congenital hypoplastic anemia (ortholog); FOUND IN cytoplasm (ortholog); nucleus (ortholog); sarcoplasm (ortholog) 19 19 19 48556224 48559746 - 45981064 45984554 - 37471006 37474528 - 30032202 100990017 MODEL JARIFH010000020;XM_024926759;XM_034945136 XP_024782527;XP_034801027 SERTA domain-containing protein 1 protein-coding 11685216 RHBDL2 rhomboid like 2 ENCODES a protein that exhibits hydrolase activity (inferred); peptidase activity (inferred); serine-type endopeptidase activity (inferred); INVOLVED IN proteolysis (inferred); ASSOCIATED WITH Charcot-Marie-Tooth disease dominant intermediate C (ortholog); genetic disease (ortholog); FOUND IN membrane (inferred); plasma membrane (inferred) 1 1 1 187021884 187084759 + 39503171 39558113 - 38157761 38214267 - 22301074;30032202 100991726 A0A2R9C7U2 MODEL JARIFH010000001;XM_008968457;XM_008968458 XP_008966705;XP_008966706 A0A2R9C7U2 rhomboid-related protein 2 protein-coding ENSPPAG00000041735 1 39503171 39543378 - 11685236 LOC100991839 eukaryotic peptide chain release factor subunit 1-like X X X 65323725 65325867 + 64977952 64986940 + 54904486 54914008 + 100991839 MODEL JARIFH010000024 pseudo 11685237 EFCAB11 EF-hand calcium binding domain 11 ENCODES a protein that exhibits calcium ion binding (inferred); metal ion binding (inferred); ASSOCIATED WITH genetic disease (ortholog) 14 14 14 90159438 90316097 - 89766772 89925341 - 70414351 70573039 - 22301074;30032202 100992187 A0A2R8ZX74;A0A2R9A0Y7 MODEL JARIFH010000015;XM_008958175;XM_008958176;XM_008958177;XM_008958179;XM_014347680;XM_014347681;XM_034938000;XR_008620955 XP_008956423;XP_014203166;XP_034793891 A0A2R8ZX74 EF-hand calcium-binding domain-containing protein 11 protein-coding ENSPPAG00000028023 14 89769013 89925224 - 11685267 PLEKHH2 pleckstrin homology, MyTH4 and FERM domain containing H2 ENCODES a protein that exhibits actin binding (inferred); INVOLVED IN negative regulation of actin filament depolymerization (inferred); ASSOCIATED WITH genetic disease (ortholog); Lynch syndrome (ortholog); FOUND IN cortical actin cytoskeleton (inferred); cytoplasm (inferred); cytoskeleton (inferred) 2A 2A 2A 82659697 82788358 - 44570356 44700272 + 43723791 43852380 + 22301074;30032202 100993299 A0A2R9AG95 MODEL JARIFH010000002;XM_003809125;XM_055108024;XM_055108025;XR_004669805;XR_008624369;XR_008624370 XP_054963999;XP_054964000 A0A2R9AG95 pleckstrin homology domain-containing family H member 2 protein-coding ENSPPAG00000031287 2A 44570356 44700272 + 11685301 LOC100994646 neuroligin-4, Y-linked ENCODES a protein that exhibits chloride ion binding (inferred); neurexin family protein binding (inferred); protein homodimerization activity (inferred); INVOLVED IN adult behavior (inferred); cell adhesion (inferred); learning (inferred); FOUND IN cell surface (inferred); dendrite (inferred); excitatory synapse (inferred) Y X 5543701 5837474 + 5753919 6094783 - 22301074;30032202 100994646 A0A2R8ZNH7;A0A2R8ZT88 MODEL JARIFH010000444;XM_003804882;XM_003804884;XM_003804886;XM_014343379;XM_014343380;XM_055106974;XM_055106975;XM_055106976;XM_055106977;XM_055106978;XM_055106979;XM_057301221 XP_003804930;XP_014198865;XP_014198866;XP_054962949;XP_054962950;XP_054962951;XP_054962952;XP_054962953;XP_054962954;XP_057157204 A0A2R8ZT88 NLGN4X neuroligin 4 X-linked;neuroligin 4, X-linked;neuroligin-4, X-linked APPROVED protein-coding ENSPPAG00000024297 X 5756699 6018008 - 11685322 NLRP7 NLR family pyrin domain containing 7 ENCODES a protein that exhibits identical protein binding (ortholog); INVOLVED IN cellular response to interleukin-1 (inferred); cellular response to lipopolysaccharide (inferred); negative regulation of cytokine production involved in inflammatory response (inferred); ASSOCIATED WITH genetic disease (ortholog); Hydatidiform Mole (ortholog); Hydatidiform Mole, Recurrent, 1 (ortholog) 19 19 19 62787184 62828805 - 60662184 60677841 - 51966886 51990971 - 22301074;30032202 100994691 A0A2R9A1M2;A0A2R9A612 MODEL JARIFH010000020;XM_008962245;XM_008962246;XM_055102906;XM_055102907;XM_055102908;XM_055102909;XM_055102910 XP_008960493;XP_008960494;XP_054958881;XP_054958882;XP_054958883;XP_054958884;XP_054958885 A0A2R9A1M2 NACHT, LRR and PYD domains-containing protein 7 protein-coding ENSPPAG00000028578 19 60662184 60677844 - 11685336 NFU1 NFU1 iron-sulfur cluster scaffold ENCODES a protein that exhibits 4 iron, 4 sulfur cluster binding (inferred); iron ion binding (inferred); iron-sulfur cluster binding (inferred); INVOLVED IN iron-sulfur cluster assembly (inferred); PARTICIPATES IN mitochondrial iron-sulfur cluster protein biogenesis pathway; ASSOCIATED WITH genetic disease (ortholog); multiple mitochondrial dysfunctions syndrome (ortholog); multiple mitochondrial dysfunctions syndrome 1 (ortholog); FOUND IN cytosol (inferred); mitochondrion (inferred); nucleoplasm (inferred) 2A 2A 2A 56980179 57021685 + 70559872 70600301 - 69438979 69480470 - 22301074;30032202 100994720 A0A2R9B582;A0A2R9BC51 MODEL JARIFH010000002;XM_003830928;XM_008956341;XM_024927759 XP_003830976;XP_008954589;XP_024783527 A0A2R9B582 NFU1 iron-sulfur cluster scaffold homolog;NFU1 iron-sulfur cluster scaffold homolog, mitochondrial protein-coding ENSPPAG00000035496 2A 70559872 70600301 - 11685351 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ENCODES a protein that exhibits beta-catenin binding (ortholog); integrin binding (ortholog); protein domain specific binding (ortholog); INVOLVED IN brain development (ortholog); cell-cell junction organization (ortholog); ectoderm development (ortholog); ASSOCIATED WITH acoustic neuroma (ortholog); breast cancer (ortholog); Breast Cancer, Familial (ortholog); FOUND IN perinuclear region of cytoplasm (ortholog); protein-containing complex (ortholog) 22 22 22 42277420 42371228 + 28454119 28544013 + 10648022 10738167 + 22301074;30032202 100994915 A0A2R9AF69;A0A2R9AF92;A0A2R9AGA4;A0A2R9AK36;A0A2R9AK44;A0A2R9ALW4;A0A2R9ALW9 MODEL JARIFH010000023;XM_003811995;XM_003811996;XM_008964392;XM_034949033;XM_034949034;XM_034949035;XM_034949037;XM_055105922;XM_055105923;XM_055105924;XR_008622646 XP_003812043;XP_003812044;XP_008962640;XP_034804924;XP_034804925;XP_034804926;XP_034804928;XP_054961897;XP_054961898;XP_054961899 A0A2R9ALW4 merlin;neurofibromin 2 APPROVED protein-coding ENSPPAG00000030883 22 28454119 28544013 + 11685378 C9H9orf50 chromosome 9 C9orf50 homolog ASSOCIATED WITH genetic disease (ortholog); primary coenzyme Q10 deficiency 7 (ortholog) 9 9 9 9731940 9741861 + 129396514 129410395 - 100734183 100747299 - 100994982 A0A2R9BQ73 MODEL JARIFH010000010;XM_034967051;XM_055117342 XP_054973317 A0A2R9BQ73 chromosome 9 open reading frame, human C9orf50;uncharacterized protein C9orf50 homolog APPROVED protein-coding ENSPPAG00000038811 11685388 LOC100995486 60S ribosomal protein L13a ENCODES a protein that exhibits structural constituent of ribosome (inferred); INVOLVED IN regulation of translation (inferred); translation (inferred); FOUND IN large ribosomal subunit (inferred); ribonucleoprotein complex (inferred); ribosome (inferred) 10 19 10 95765300 95765957 - 45386705 45387336 + 80193442 80194103 - 22301074;30032202 100995486 A0A2R9BPU7 MODEL JARIFH010000011;XM_034931009 XP_034786900 60S ribosomal protein L13a pseudogene APPROVED protein-coding 11685391 MIR154 microRNA mir-154 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 101431674 101431757 + 100994025 100994108 + 81684304 81684387 + 15652478;16381832 102464120 PROVISIONAL JARIFH010000015;NR_106537 ppa-mir-154 microRNA 154 APPROVED ncrna ENSPPAG00000015391 14 100994025 100994108 + 11685394 BHLHE40 basic helix-loop-helix family member e40 ENCODES a protein that exhibits bHLH transcription factor binding (inferred); DNA binding (inferred); DNA-binding transcription factor activity, RNA polymerase II-specific (inferred); INVOLVED IN negative regulation of DNA-templated transcription (ortholog); negative regulation of transcription by RNA polymerase II (ortholog); regulation of neuronal synaptic plasticity (ortholog); PARTICIPATES IN hypoxia inducible factor pathway; ASSOCIATED WITH advanced sleep phase syndrome (ortholog); bipolar disorder (ortholog); COVID-19 (ortholog); FOUND IN nuclear body (inferred); nucleus (inferred) 3 3 3 4990663 4996646 + 5028217 5033968 + 4927487 4933215 + 22301074;30032202 103783770 A0A2R9AQN1 MODEL JARIFH010000004;XM_008956604 XP_008954852 A0A2R9AQN1 class E basic helix-loop-helix protein 40 protein-coding ENSPPAG00000033029 3 5028515 5032470 + 11685414 LOC103786860 uncharacterized LOC103786860 4 4 4 128052152 128167536 + 133487497 133602686 + 122185447 122398879 + 103786860 MODEL JARIFH010000005;XR_001338080;XR_004671193 ncrna 11685422 LOC106635257 uncharacterized LOC106635257 11 11 11 36920088 37107647 + 34544164 34725492 + 34668465 34850289 + 106635257 MODEL JARIFH010000012;XR_001338615;XR_008620170 ncrna 11685429 TMC2 transmembrane channel like 2 ENCODES a protein that exhibits mechanosensitive monoatomic ion channel activity (inferred); voltage-gated calcium channel activity (inferred); INVOLVED IN calcium ion transmembrane transport (ortholog); detection of mechanical stimulus involved in sensory perception of sound (ortholog); regulation of calcium ion transmembrane transport (ortholog); ASSOCIATED WITH genetic disease (ortholog); Huntington's disease-like 1 (ortholog); pantothenate kinase-associated neurodegeneration (ortholog); FOUND IN membrane (inferred); plasma membrane (inferred); stereocilium tip (inferred) 20 20 20 3534135 3627448 + 2409961 2513365 + 2667175 2750058 + 30032202 100968023 A0A2R8ZW49 MODEL JARIFH010000021;XM_034947002 XP_034802893 A0A2R8ZW49 transmembrane channel-like protein 2 protein-coding ENSPPAG00000027274 20 2409961 2513365 + 11685453 RHEBL1 RHEB like 1 ENCODES a protein that exhibits GTP binding (inferred); GTPase activity (inferred); INVOLVED IN signal transduction (inferred); TOR signaling (inferred); ASSOCIATED WITH COVID-19 (ortholog); genetic disease (ortholog); FOUND IN cytoplasm (inferred); membrane (inferred) 12 12 12 45110155 45117219 + 40560179 40565758 + 39680095 39686152 + 22301074;30032202 100968306 A0A2R9AXN1 MODEL JARIFH010000013;XM_003825825;XM_003825826;XM_008951153;XM_024931273;XM_024931274;XM_034935935;XM_055095698;XM_055095699;XM_057299463 XP_003825873;XP_008949401;XP_024787041;XP_034791826;XP_054951673;XP_054951674;XP_057155446 A0A2R9AXN1 GTPase RhebL1;Ras homolog enriched in brain like 1 APPROVED protein-coding ENSPPAG00000034151 12 40560179 40565758 + 11685480 TRIOBP TRIO and F-actin binding protein ENCODES a protein that exhibits actin filament binding (inferred); ubiquitin protein ligase binding (inferred); INVOLVED IN actin filament bundle assembly (ortholog); auditory receptor cell stereocilium organization (ortholog); positive regulation of substrate adhesion-dependent cell spreading (ortholog); ASSOCIATED WITH adenylosuccinase lyase deficiency (ortholog); autosomal recessive nonsyndromic deafness (ortholog); autosomal recessive nonsyndromic deafness 28 (ortholog); FOUND IN cuticular plate (ortholog); stereocilium (ortholog); stereocilium shaft (ortholog) 22 22 22 50242516 50326567 + 36487338 36524404 + 18662794 18693138 + 30032202 100968378 A0A2R8Z662;A0A2R8Z665;A0A2R8Z9X7;A0A2R8ZCA8 MODEL JARIFH010000023;XM_034949169;XM_034949170;XM_034949171;XM_055105662;XM_055105663;XM_055105664;XM_055105665;XM_055105666 XP_034805060;XP_034805062;XP_054961637;XP_054961638;XP_054961639;XP_054961640;XP_054961641 A0A2R8Z662 LOC100968378 APPROVED protein-coding ENSPPAG00000000778 22 36451860 36522391 + 11685502 PCSK5 proprotein convertase subtilisin/kexin type 5 ENCODES a protein that exhibits endopeptidase activity (inferred); hydrolase activity (inferred); peptidase activity (inferred); INVOLVED IN cardiac septum development (ortholog); cellular response to platelet-derived growth factor stimulus (ortholog); coronary vasculature development (ortholog); ASSOCIATED WITH amenorrhea (ortholog); Anorectal Malformations (ortholog); bone development disease (ortholog); FOUND IN Golgi medial cisterna (ortholog); perikaryon (ortholog); proximal dendrite (ortholog) 9 9 9 75069756 75532735 + 74745187 75224347 + 48480607 48943331 - 22301074;30032202 100969356 A0A2R8ZTK0;A0A2R8ZTK3;A0A2R8ZWZ0 MODEL JARIFH010000010;XM_024930148;XM_034967553 XP_024785916;XP_034823444 A0A2R8ZWZ0 LOC100991196 proprotein convertase subtilisin/kexin type 5-like PROVISIONAL protein-coding ENSPPAG00000027360 9 74745761 75220502 + 11685537 B4GALT7 beta-1,4-galactosyltransferase 7 ENCODES a protein that exhibits beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (inferred); galactosyltransferase activity (inferred); glycosyltransferase activity (inferred); INVOLVED IN carbohydrate metabolic process (inferred); glycosaminoglycan biosynthetic process (inferred); negative regulation of fibroblast proliferation (inferred); ASSOCIATED WITH Craniofacial Abnormalities (ortholog); dyskeratosis congenita (ortholog); Ehlers-Danlos syndrome (ortholog); FOUND IN Golgi apparatus (inferred); Golgi cisterna membrane (inferred); Golgi membrane (inferred) 5 5 5 170827913 170838072 + 179965928 179976159 + 172905749 172915970 + 22301074;30032202 100969443 A0A2R9CIW6;A0A2R9CS16 MODEL JARIFH010000006;XM_003806871;XM_024928741;XM_024928742 XP_003806919;XP_024784510 A0A2R9CS16 protein-coding ENSPPAG00000043542 5 179965928 179976158 + 11685547 L3MBTL1 L3MBTL histone methyl-lysine binding protein 1 ENCODES a protein that exhibits chromatin binding (ortholog); histone binding (ortholog); identical protein binding (ortholog); INVOLVED IN chromatin organization (ortholog); hemopoiesis (ortholog); heterochromatin formation (ortholog); PARTICIPATES IN ataxia telangiectasia-mutated (ATM) signaling pathway; histone modification pathway; ASSOCIATED WITH breast cancer (ortholog); focal epilepsy (ortholog); genetic disease (ortholog); FOUND IN chromatin (ortholog); chromatin lock complex (ortholog); condensed chromosome (ortholog) 20 20 20 49240906 49284213 + 40947112 40984160 + 39846011 39889267 + 22301074 100969462 A0A2R9B420 MODEL JARIFH010000021;XM_008951293;XM_055104510;XM_055104511;XM_055104512 XP_008949541;XP_054960485;XP_054960486;XP_054960487 A0A2R9B420 l(3)mbt-like 1;l(3)mbt-like 1 (Drosophila);lethal(3)malignant brain tumor-like protein 1 APPROVED protein-coding ENSPPAG00000035008 20 40946487 40974309 + 11685581 CLIC5 chloride intracellular channel 5 ENCODES a protein that exhibits chloride channel activity (ortholog); INVOLVED IN auditory receptor cell stereocilium organization (ortholog); diet induced thermogenesis (ortholog); neuromuscular process controlling balance (ortholog); ASSOCIATED WITH autosomal recessive nonsyndromic deafness (ortholog); autosomal recessive nonsyndromic deafness 103 (ortholog); genetic disease (ortholog); FOUND IN actin cytoskeleton (ortholog); Golgi apparatus (ortholog); stereocilium (ortholog) 6 6 6 56253426 56371209 - 46753007 46934100 - 45474797 45592407 - 100969744 A0A2R8ZN78;A0A2R8ZN83;A0A2R8ZU67 MODEL JARIFH010000007;XM_003833212;XM_034962205;XM_034962206;XM_055113660;XM_055113661 XP_003833260;XP_054969635;XP_054969636 A0A2R8ZU67 chloride intracellular channel protein 5 protein-coding ENSPPAG00000025002 6 46753013 46934100 - 11685596 PPCDC phosphopantothenoylcysteine decarboxylase ENCODES a protein that exhibits catalytic activity (inferred); FMN binding (inferred); identical protein binding (inferred); INVOLVED IN coenzyme A biosynthetic process (inferred); PARTICIPATES IN pantothenic acid metabolic pathway; ASSOCIATED WITH Bloom syndrome (ortholog); colorectal cancer (ortholog); genetic disease (ortholog) 15 15 15 68411630 68450492 + 73579583 73606834 + 53963001 54001550 + 30032202 100970039 A0A2R8ZVI1;A0A2R8ZWM8;A0A2R8ZWP0;A0A2R8ZYX9 MODEL JARIFH010000016;XM_003811080;XM_008963455;XM_024925761;XM_034939149;XM_034939150;XM_034939151;XM_034939152;XM_034939153;XM_057299933 XP_003811128;XP_008961703;XP_034795040;XP_034795041;XP_034795042;XP_034795043;XP_057155916 A0A2R8ZYX9 protein-coding ENSPPAG00000027703 15 73579583 73606834 + 11685607 ZNF19 zinc finger protein 19 ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN regulation of DNA-templated transcription (inferred); ASSOCIATED WITH autosomal dominant dyskeratosis congenita 6 (ortholog); genetic disease (ortholog) 16 16 16 88605786 88632409 + 71311879 71401991 - 53446172 53550302 + 22301074 100971545 A0A2R8ZG28;A0A2R8ZG33 MODEL JARIFH010000017;XM_055100255;XR_004666920;XR_008954933;XR_008954934 XP_054956230 A0A2R8ZG28 protein-coding ENSPPAG00000016077 16 71311879 71326419 - 11685634 GPR143 G protein-coupled receptor 143 ENCODES a protein that exhibits dopamine binding (inferred); G protein-coupled receptor activity (inferred); L-DOPA binding (inferred); INVOLVED IN regulation of melanosome organization (ortholog); regulation of melanosome transport (ortholog); ASSOCIATED WITH Albinism (ortholog); autistic disorder (ortholog); congenital nystagmus 6 (ortholog); FOUND IN apical plasma membrane (inferred); Golgi apparatus (inferred); lysosomal membrane (inferred) X X X 11532585 11573122 - 9609597 9650069 - 2357835 2398389 - 22301074;30032202 100973722 A0A2R9C1B5 MODEL JARIFH010000024;XM_003811949;XM_008964324 XP_003811997;XP_008962572 A0A2R9C1B5 G-protein coupled receptor 143 protein-coding ENSPPAG00000040569 X 9609598 9650075 - 11685653 ARPC1B actin related protein 2/3 complex subunit 1B ENCODES a protein that exhibits actin filament binding (ortholog); protein-containing complex binding (ortholog); INVOLVED IN response to estradiol (ortholog); response to estrogen (ortholog); PARTICIPATES IN insulin responsive facilitative sugar transporter mediated glucose transport pathway; platelet-derived growth factor signaling pathway; Rab family mediated signaling pathway; ASSOCIATED WITH combined immunodeficiency (ortholog); Experimental Liver Cirrhosis (ortholog); gastritis (ortholog); FOUND IN tubulobulbar complex (ortholog) 7 7 7 165496564 165517159 + 104861582 104870382 + 91348120 91368299 + 22301074;30032202 100975648 A0A2R9A5H5 MODEL JARIFH010000008;XM_034964514;XM_055115174;XM_055115175 XP_034820405;XP_054971149;XP_054971150 A0A2R9A5H5 actin-related protein 2/3 complex subunit 1B protein-coding ENSPPAG00000029449 7 104861582 104870369 + 11685666 VAX2 ventral anterior homeobox 2 ENCODES a protein that exhibits chromatin DNA binding (inferred); DNA binding (inferred); DNA-binding transcription factor activity, RNA polymerase II-specific (inferred); INVOLVED IN axonogenesis (ortholog); camera-type eye development (ortholog); dorsal/ventral axis specification (ortholog); ASSOCIATED WITH dystonia (ortholog); genetic disease (ortholog); Methylmalonyl-CoA Epimerase Deficiency (ortholog); FOUND IN cytoplasm (inferred); nucleus (inferred) 2A 2A 2A 55458420 55491315 - 72078829 72111463 + 70964829 70997702 + 22301074;30032202 100975762 A0A2R8ZPJ5;A0A2R8ZQQ8 MODEL JARIFH010000002;XM_003830952 XP_003831000 A0A2R8ZQQ8 protein-coding ENSPPAG00000025820 2A 72078829 72111463 + 11685673 RUNDC3B RUN domain containing 3B ASSOCIATED WITH genetic disease (ortholog); pleomorphic xanthoastrocytoma (ortholog) 7 7 7 153770603 153978599 + 93270709 93477463 + 79621222 79829021 + 100975924 A0A2R9B9D1;A0A2R9B9D5;A0A2R9BD29 MODEL JARIFH010000008;XM_003822723;XM_008976308;XM_034964373;XM_034964374;XM_034964375;XM_034964376;XM_034964377;XM_055114638;XM_055114639;XM_055114640;XM_055114641;XM_055114642;XM_055114643;XM_055114644 XP_003822771;XP_008974556;XP_034820264;XP_034820265;XP_034820266;XP_034820267;XP_034820268;XP_054970613;XP_054970614;XP_054970615;XP_054970616;XP_054970617;XP_054970618;XP_054970619 A0A2R9B9D1 RUN domain-containing protein 3B protein-coding ENSPPAG00000036207 7 93270747 93477463 + 11685689 DCAF12L2 DDB1 and CUL4 associated factor 12 like 2 ASSOCIATED WITH autistic disorder (ortholog); genetic disease (ortholog); syndromic X-linked intellectual disability Lubs type (ortholog) X X X 125640617 125643504 - 125525080 125527429 - 115346153 115349054 - 22301074;30032202 100977609 MODEL JARIFH010000024;XM_034949925;XM_034949926 XP_034805816;XP_034805817 LOC100977609 DDB1 and CUL4 associated factor 12-like 2;DDB1- and CUL4-associated factor 12-like protein 2 APPROVED protein-coding 11685695 MOCS2 molybdenum cofactor synthesis 2 ENCODES a protein that exhibits identical protein binding (ortholog); molybdopterin synthase activity (ortholog); INVOLVED IN molybdopterin cofactor biosynthetic process (ortholog); PARTICIPATES IN molybdenum cofactor biosynthetic pathway; ASSOCIATED WITH genetic disease (ortholog); molybdenum cofactor deficiency (ortholog); molybdenum cofactor deficiency type A (ortholog); FOUND IN molybdopterin synthase complex (ortholog) 5 5 5 58984997 58996220 + 62539208 62550926 + 60920268 60931990 + 22301074;30032202 100979209 A0A2R9AWF2;A0A2R9AWL9;A0A2R9B0D2 MODEL JARIFH010000006;XM_003827352;XM_003827353;XM_034960107 XP_003827401 A0A2R9B0D2 molybdopterin synthase catalytic subunit protein-coding ENSPPAG00000034014 5 62539214 62550921 + 11685709 CBY1 chibby 1, beta catenin antagonist ENCODES a protein that exhibits beta-catenin binding (ortholog); identical protein binding (ortholog); protein homodimerization activity (ortholog); INVOLVED IN canonical Wnt signaling pathway (ortholog); cardiac muscle cell differentiation (ortholog); cilium assembly (ortholog); ASSOCIATED WITH adenylosuccinase lyase deficiency (ortholog); Emery-Dreifuss muscular dystrophy (ortholog); genetic disease (ortholog); FOUND IN centriole (ortholog); ciliary basal body (ortholog); nucleus (ortholog) 22 22 22 51203666 51220885 + 37389924 37406879 + 19571658 19588872 + 30032202 100979959 A0A2R9AIB6;A0A2R9AM57 MODEL JARIFH010000023;XM_003821601;XM_003821602;XM_008975097;XM_055105721;XM_055105722;XM_055105723 XP_003821649;XP_003821650;XP_054961696;XP_054961697;XP_054961698 A0A2R9AIB6 chibby family member 1, beta catenin antagonist APPROVED protein-coding ENSPPAG00000031485 22 37389948 37406879 + 11685735 LOC100980938 histone-lysine N-methyltransferase SUV39H2-like 6 6 6 85876416 85877568 + 69086872 69088024 + 65788271 65789423 + 100980938 MODEL JARIFH010000007 pseudo 11685736 RRP1B ribosomal RNA processing 1B ENCODES a protein that exhibits transcription coactivator activity (inferred); INVOLVED IN regulation of RNA splicing (ortholog); ASSOCIATED WITH autistic disorder (ortholog); cataract 9 multiple types (ortholog); developmental and epileptic encephalopathy 30 (ortholog); FOUND IN euchromatin (ortholog); heterochromatin (ortholog) 21 21 21 34516644 34553263 + 43217516 43251192 + 29916109 29952749 + 22301074;30032202 100981241 A0A2R9B7Y2;A0A2R9B7Y7 MODEL JARIFH010000022;XM_034948162;XM_034948163 XP_034804054 A0A2R9B7Y7 ribosomal RNA processing 1 homolog B;ribosomal RNA processing protein 1 homolog B protein-coding ENSPPAG00000035319 21 43217516 43251192 + 11685755 LOC100981395 60S ribosomal protein L5-like 8 8 8 22553905 22555295 + 24779176 24780073 + 27579199 27580599 + 100981395 MODEL JARIFH010000009 60S ribosomal protein L5 pseudogene APPROVED pseudo 11685756 LOC100981631 cell division control protein 42 homolog 5 5 5 166356830 166362442 - 175347942 175348819 - 168438492 168439787 - 100981631 MODEL JARIFH010000006 pseudo 11685757 VSIG1 V-set and immunoglobulin domain containing 1 INVOLVED IN epithelial cell morphogenesis (ortholog); maintenance of gastrointestinal epithelium (ortholog); ASSOCIATED WITH autistic disorder (ortholog); Charcot-Marie-Tooth disease type X (ortholog); genetic disease (ortholog); FOUND IN basolateral plasma membrane (ortholog) X X X 107529895 107563826 + 107513181 107547170 + 97030289 97177080 + 30032202 100981877 A0A2R9B5R4;A0A2R9B5S2 MODEL JARIFH010000024;XM_003819683;XM_055106891;XR_004668930;XR_004668931;XR_008622906 XP_003819731;XP_054962866 A0A2R9B5S2 LOC103786254 V-set and immunoglobulin domain-containing protein 1;uncharacterized LOC103786254 PROVISIONAL protein-coding ENSPPAG00000034532 X 107513181 107547170 + 11685772 RLN2 relaxin 2 ENCODES a protein that exhibits hormone activity (inferred); INVOLVED IN blastocyst growth (ortholog); flagellated sperm motility (ortholog); oocyte maturation (ortholog); ASSOCIATED WITH chromosome 9p deletion syndrome (ortholog); genetic disease (ortholog); Prostatic Neoplasms (ortholog); FOUND IN extracellular region (inferred) 9 9 9 119227131 119260125 + 5324368 5330184 - 5138882 5167037 - 22301074 100982014 A0A2R8ZRM0 MODEL JARIFH010000010;XM_003823372;XM_003823373;XM_008977013;XM_024930118;XM_024930119;XM_034967106;XM_034967107;XM_034967108;XM_034967109;XM_034967110;XM_034967111;XM_055092180;XM_055092181;XR_008619786 XP_003823420;XP_003823421;XP_008975261;XP_024785886;XP_034823000;XP_054948155;XP_054948156 A0A2R8ZRM0 LOC100982014 prorelaxin H2 APPROVED protein-coding ENSPPAG00000025312 9 5324368 5329081 - 11685785 LOC100982184 histone H3.3A-like ENCODES a protein that exhibits DNA binding (inferred); protein heterodimerization activity (inferred); structural constituent of chromatin (inferred); FOUND IN chromatin (inferred); nucleosome (inferred) 4 4 4 110933070 110934155 + 115615929 115616478 + 105053584 105054161 + 22301074;30032202 100982184 A0A2R9AWH1 MODEL JARIFH010000005;XM_008955401 XP_008953649 A0A2R9AWH1 histone H3.3-like APPROVED protein-coding ENSPPAG00000008685;ENSPPAG00000034007 11685790 DDIT3 DNA damage inducible transcript 3 ENCODES a protein that exhibits cAMP response element binding protein binding (ortholog); DNA binding (ortholog); DNA-binding transcription activator activity, RNA polymerase II-specific (ortholog); INVOLVED IN anterior/posterior axis specification (ortholog); apoptotic process (ortholog); artery development (ortholog); ASSOCIATED WITH acute kidney failure (ortholog); Acute Lung Injury (ortholog); Acute-Phase Reaction (ortholog); FOUND IN CHOP-ATF3 complex (ortholog); CHOP-ATF4 complex (ortholog); CHOP-C/EBP complex (ortholog) 12 12 12 36820414 36821297 + 31664766 31668699 + 31406332 31410293 + 30032202 100982590 MODEL JARIFH010000013;XM_003824863;XM_008978497;XM_008978498;XM_034935581;XM_055095485 XP_054951460 protein-coding ENSPPAG00000034304 12 31664743 31668701 + 11685810 ANKRD10 ankyrin repeat domain 10 ASSOCIATED WITH Anal Atresia, Hypospadias, and Penoscrotal Inversion (ortholog); factor X deficiency (ortholog); genetic disease (ortholog); FOUND IN nucleoplasm (inferred) 13 13 13 111058602 111105031 - 111130933 111177018 - 92017092 92053485 - 22301074 100983075 A0A2R9BQJ3;A0A2R9BQJ8;A0A2R9BQK2;A0A2R9BZM1 MODEL JARIFH010000014;XM_034936991;XM_034936993;XM_034936994;XR_004666021 XP_034792882;XP_034792884;XP_034792885 A0A2R9BZM1 ankyrin repeat domain-containing protein 10 protein-coding ENSPPAG00000038873 13 111130933 111177018 - 11685822 OTUD6B OTU deubiquitinase 6B ENCODES a protein that exhibits cysteine-type deubiquitinase activity (inferred); INVOLVED IN negative regulation of translation (ortholog); positive regulation of translation (ortholog); ASSOCIATED WITH epilepsy (ortholog); genetic disease (ortholog); Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies (ortholog); FOUND IN eukaryotic translation initiation factor 4F complex (ortholog) 8 8 8 83979464 83996406 + 89685766 89702661 + 87733597 87750481 + 30032202 100983324 A0A2R9BS51 MODEL JARIFH010000009;XM_003821139;XM_014345972;XM_055116717;XM_055116718 XP_003821187;XP_054972692;XP_054972693 A0A2R9BS51 OTU domain containing 6B;OTU domain-containing protein 6B;deubiquitinase OTUD6B APPROVED protein-coding ENSPPAG00000039145 8 89685766 89702659 + 11685838 MATR3 matrin 3 ENCODES a protein that exhibits identical protein binding (inferred); miRNA binding (inferred); nucleic acid binding (inferred); INVOLVED IN blastocyst formation (ortholog); heart valve development (ortholog); ventricular septum development (ortholog); ASSOCIATED WITH amyotrophic lateral sclerosis (ortholog); amyotrophic lateral sclerosis type 21 (ortholog); autosomal dominant intellectual developmental disorder 31 (ortholog); FOUND IN nuclear matrix (ortholog) 5 5 5 132700169 132737940 + 140788667 140825064 + 134664893 134702566 + 22301074;30032202 100985074 A0A2R8Z7I6;A0A2R8Z7J4;A0A2R8Z7N9;A0A2R8Z7R8;A0A2R8ZDQ7;A0A2R8ZDW8 MODEL JARIFH010000006;XM_003829210;XM_003829211;XM_003829212;XM_008954576;XM_008954577;XM_008954580;XM_008954581;XM_008954582;XM_055112995;XM_055112997;XM_055112999;XM_055113000;XM_055113001;XM_055113003;XM_055113005 XP_003829258;XP_003829260;XP_008952824;XP_008952825;XP_008952828;XP_008952829;XP_008952830;XP_054968970;XP_054968972;XP_054968974;XP_054968975;XP_054968976;XP_054968978;XP_054968980 A0A2R8ZDQ7 LOC100984182 matrin-3;uncharacterized LOC100984182 PROVISIONAL protein-coding ENSPPAG00000001418 5 140788709 140825064 + 11685887 ABHD12 abhydrolase domain containing 12, lysophospholipase ENCODES a protein that exhibits acylglycerol lipase activity (inferred); lysophospholipase activity (inferred); palmitoyl-(protein) hydrolase activity (inferred); INVOLVED IN adult walking behavior (ortholog); phosphatidylserine catabolic process (ortholog); response to auditory stimulus (ortholog); ASSOCIATED WITH cone dystrophy (ortholog); fundus dystrophy (ortholog); genetic disease (ortholog); FOUND IN AMPA glutamate receptor complex (inferred); cytoplasm (inferred); dendrite cytoplasm (inferred) 20 20 20 26167384 26263661 - 25644824 25741073 - 25239710 25335941 - 30032202 100985803 A0A2R9BQV1;A0A2R9BQW3;A0A2R9BQY8;A0A2R9BRK6 MODEL JARIFH010000021;XM_034947592;XM_034947593;XM_055104951;XM_055104952 XP_034803483;XP_034803484;XP_054960926;XP_054960927 A0A2R9BQV1 abhydrolase domain containing 12;lysophosphatidylserine lipase ABHD12;monoacylglycerol lipase ABHD12 APPROVED protein-coding ENSPPAG00000038923 20 25645046 25740943 - 11685910 LOC100986857 28S ribosomal protein S33, mitochondrial-like 4 4 4 113544343 113544835 + 118225487 118225808 + 107663589 107664081 + 30032202 100986857 MODEL JARIFH010000005;XM_034958079 XP_034813970 28S ribosomal protein S33, mitochondrial pseudogene APPROVED protein-coding 11685911 FBXO16 F-box protein 16 ASSOCIATED WITH autosomal dominant nocturnal frontal lobe epilepsy (ortholog); benign familial infantile seizures 6 (ortholog); genetic disease (ortholog) 8 8 8 22674586 22744934 - 24907899 24969748 - 27708114 27770216 - 22301074 100986986 A0A2R9ACS8;A0A2R9ADR2;A0A2R9AHP7;A0A2R9AIY3 MODEL JARIFH010000009;XM_008956216;XM_008956217;XM_008956218;XM_008956219;XM_008956220;XM_057302995;XR_008626366;XR_008626367 XP_008954464;XP_008954465;XP_008954466;XP_008954467;XP_057158978 A0A2R9ACS8 F-box only protein 16 protein-coding ENSPPAG00000030694 8 24907899 24969748 - 11685937 CUL2 cullin 2 ENCODES a protein that exhibits protein-containing complex binding (ortholog); INVOLVED IN protein catabolic process (ortholog); PARTICIPATES IN hypoxia inducible factor pathway; neddylation pathway; proteasome degradation pathway involving cullin-dependent ubiquitin ligases; ASSOCIATED WITH genetic disease (ortholog); inflammatory bowel disease (ortholog); FOUND IN nucleolus (ortholog); VCB complex (ortholog) 10 10 10 47655268 47736246 - 35705442 35787248 - 35127771 35210108 - 22301074;30032202 100987655 A0A2R9B8V4;A0A2R9B8W1;A0A2R9BAC0;A0A2R9BCL7;A0A2R9BCM8 MODEL JARIFH010000011;XM_003814779;XM_008967602;XM_034930288;XM_034930289;XM_055092629;XM_055092630 XP_003814827;XP_034786179;XP_034786180;XP_054948604;XP_054948605 A0A2R9BCL7 cullin-2 protein-coding ENSPPAG00000036130 10 35704964 35787014 - 11685968 LOC100988618 vasculin-like 4 4 4 156688670 156689786 + 162599132 162600338 + 150786233 150787349 + 100988618 MODEL JARIFH010000005 vasculin pseudogene APPROVED pseudo 11685969 CPPED1 calcineurin like phosphoesterase domain containing 1 ENCODES a protein that exhibits hydrolase activity (inferred); myosin phosphatase activity (inferred); protein serine/threonine phosphatase activity (inferred); ASSOCIATED WITH genetic disease (ortholog); schizophrenia (ortholog); FOUND IN cytosol (inferred); plasma membrane (inferred) 16 16 16 16969098 17113542 - 13016807 13160927 - 11589885 11734701 - 22301074 100988901 A0A2R9B663;A0A2R9B7P2 MODEL JARIFH010000017;XM_003832691;XM_008958110 XP_003832739;XP_008956358 A0A2R9B663 serine/threonine-protein phosphatase CPPED1 protein-coding ENSPPAG00000035680 16 13017311 13160927 - 11685980 RIPK1 receptor interacting serine/threonine kinase 1 ENCODES a protein that exhibits death receptor binding (ortholog); protein-containing complex binding (ortholog); signaling adaptor activity (ortholog); INVOLVED IN necroptotic process (ortholog); negative regulation of extrinsic apoptotic signaling pathway (ortholog); positive regulation of canonical NF-kappaB signal transduction (ortholog); PARTICIPATES IN ceramide signaling pathway; FasL mediated signaling pathway; Toll-like receptor signaling pathway; ASSOCIATED WITH Autoinflammation with Episodic Fever and Lymphadenopathy (ortholog); epilepsy (ortholog); genetic disease (ortholog); FOUND IN protein-containing complex (ortholog) 6 6 6 13685437 13736088 + 2997290 3046230 + 2893802 2943162 + 22301074;30032202 100991521 A0A2R8ZX03;A0A2R8ZZE3 MODEL JARIFH010000007;XM_003805555;XM_008972658;XM_034961372;XM_034961373;XM_055113144;XM_055113145;XM_055113146;XM_055113147;XM_057302673 XP_003805603;XP_034817263;XP_054969119;XP_054969120;XP_054969121;XP_054969122;XP_057158656 A0A2R8ZX03 receptor-interacting serine/threonine-protein kinase 1 protein-coding ENSPPAG00000027763 6 2997343 3045078 + 11686001 FCRL4 Fc receptor like 4 ASSOCIATED WITH gastrointestinal stromal tumor (ortholog); genetic disease (ortholog); Hydrops Fetalis (ortholog); FOUND IN cell surface (inferred); membrane (inferred) 1 1 1 91992021 92015110 + 136728473 136752838 - 132935602 132960346 - 30032202 100991749 A0A2R9BST1;A0A2R9C184 MODEL JARIFH010000001;XM_003821019;XM_055109982 XP_054965957 A0A2R9BST1 Fc receptor-like protein 4 protein-coding ENSPPAG00000039141 1 136728473 136752838 - 11686017 SMIM23 small integral membrane protein 23 5 5 5 165059779 165066703 + 174048837 174054098 + 167131772 167137236 + 100991932 A0A2R8Z9G7;A0A2R8Z9H6 MODEL JARIFH010000006;XM_008966592;XM_008966593 XP_008964841 A0A2R8Z9G7 protein-coding ENSPPAG00000006847 5 174048837 174057589 + 11686027 LRMDA leucine rich melanocyte differentiation associated INVOLVED IN melanocyte differentiation (ortholog); ASSOCIATED WITH atrial fibrillation (ortholog); Genitopatellar Syndrome (ortholog); oculocutaneous albinism type VII (ortholog) 10 10 10 87591299 88715871 + 74974055 75747123 + 71957984 73085285 + 22301074;30032202 100992390 A0A2R9AP76;A0A2R9AW18 MODEL JARIFH010000011;XM_008965574;XM_034930897;XM_034930898;XR_004664721 XP_034786789 A0A2R9AP76 C10H10orf11 chromosome 10 open reading frame, human C10orf11;leucine-rich repeat-containing protein C10orf11 homolog;leucine-rich repeat-containing protein C10orf11-like APPROVED protein-coding ENSPPAG00000032754 10 74630828 75747045 + 11686044 AMOTL2 angiomotin like 2 ENCODES a protein that exhibits identical protein binding (ortholog); ASSOCIATED WITH genetic disease (ortholog); Primary Lymphedema with Myelodysplasia (ortholog); FOUND IN apical plasma membrane (ortholog); bicellular tight junction (ortholog); cytoplasmic vesicle (ortholog) 3 3 3 132286549 132305216 - 138874302 138892913 - 131402375 131421030 - 30032202 100993631 A0A2R9CCR0;A0A2R9CNC7 MODEL JARIFH010000004;XM_003822519;XM_034957431;XM_034957432 XP_003822567;XP_034813322;XP_034813323 A0A2R9CCR0 angiomotin-like protein 2 protein-coding ENSPPAG00000042540 3 138874309 138892913 - 11686058 EARS2 glutamyl-tRNA synthetase 2, mitochondrial ENCODES a protein that exhibits aminoacyl-tRNA ligase activity (inferred); ATP binding (inferred); glutamate-tRNA ligase activity (inferred); INVOLVED IN glutamyl-tRNA aminoacylation (inferred); translation (inferred); tRNA aminoacylation (inferred); PARTICIPATES IN 2-hydroxyglutaric aciduria pathway; glutamic acid/glutamate metabolic pathway; homocarnosinosis pathway; ASSOCIATED WITH combined oxidative phosphorylation deficiency (ortholog); combined oxidative phosphorylation deficiency 12 (ortholog); congenital disorder of glycosylation type IIe (ortholog); FOUND IN mitochondrion (inferred) 16 16 16 29453430 29488681 - 23774565 23809868 - 14552664 14588022 + 22301074;30032202 100994124 A0A2R8ZY49;A0A2R8ZZ88;A0A2R9A3N6 MODEL JARIFH010000017;XM_003813707;XM_008966279;XM_055100026;XR_004666782;XR_610956 XP_003813755;XP_008964527;XP_054956001 A0A2R8ZZ88 glutamyl-tRNA synthetase 2, mitochondrial (putative);probable glutamate--tRNA ligase, mitochondrial protein-coding ENSPPAG00000028179 16 23774123 23809873 - 11686079 LOC100995460 uncharacterized LOC100995460 7 7 7 142053513 142063625 + 82557431 82614907 - 67855048 67950304 + 100995460 MODEL JARIFH010000008;XM_014345704;XM_034965395;XM_034965396;XM_034965397;XM_034965398;XM_034965399;XM_034965400;XM_034965401;XM_034965402;XM_034965403;XM_034965404;XM_034965405;XR_004672732;XR_008625869 LOC106634980 translation initiation factor IF-2;vegetative cell wall protein gp1;vegetative cell wall protein gp1-like APPROVED protein-coding 11686101 GINS4 GINS complex subunit 4 INVOLVED IN inner cell mass cell proliferation (ortholog); ASSOCIATED WITH genetic disease (ortholog); FOUND IN CMG complex (ortholog); GINS complex (ortholog) 8 8 8 35698447 35724384 + 38224907 38240562 + 40774253 40790609 + 22301074;30032202 100995559 A0A2R8ZEX8 MODEL JARIFH010000009;XM_003823301;XM_008976937 XP_003823349;XP_008975185 A0A2R8ZEX8 DNA replication complex GINS protein SLD5 protein-coding ENSPPAG00000015017 8 38224907 38240562 + 11686136 LOC103785781 heterogeneous nuclear ribonucleoprotein A3-like 10 10 10 56519031 56520194 - 43954596 43955736 - 40773717 40774914 - 103785781 MODEL JARIFH010000011;XR_611466 heterogeneous nuclear ribonucleoprotein A3 pseudogene APPROVED pseudo 11686145 OXLD1 oxidoreductase like domain containing 1 ASSOCIATED WITH genetic disease (ortholog) 17 17 17 103155379 103157018 - 81824942 81826536 - 76124275 76125889 - 30032202 100968104 A0A2R8ZVD3 MODEL JARIFH010000018;XM_003831117;XM_034943120;XR_609327 XP_003831165 A0A2R8ZVD3 oxidoreductase-like domain-containing protein 1 protein-coding ENSPPAG00000027500 17 81824942 81826536 - 11686167 MRPL47 mitochondrial ribosomal protein L47 ENCODES a protein that exhibits structural constituent of ribosome (inferred); INVOLVED IN translation (inferred); ASSOCIATED WITH Currarino syndrome (ortholog); genetic disease (ortholog); syndromic microphthalmia 3 (ortholog); FOUND IN mitochondrial large ribosomal subunit (inferred); mitochondrial ribosome (inferred); mitochondrion (inferred) 3 3 3 177461904 177477759 - 184791041 184807194 - 176620910 176636833 - 22301074;30032202 100969157 A0A2R8ZX91;A0A2R8ZYE9 MODEL JARIFH010000004;XM_003831966;XM_034957752 XP_003832014;XP_034813643 A0A2R8ZX91 39S ribosomal protein L47, mitochondrial protein-coding ENSPPAG00000028033 3 184791041 184807194 - 11686179 LOC100970262 glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1-like 12 12 12 77295375 77313790 + 69572501 69573582 + 66793580 66796531 + 100970262 MODEL JARIFH010000013 glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 pseudogene APPROVED pseudo 11686180 KLHDC8A kelch domain containing 8A ASSOCIATED WITH autistic disorder (ortholog); familial adult myoclonic epilepsy 5 (ortholog); gastrointestinal stromal tumor (ortholog) 1 1 1 43978851 44001323 + 185231575 185251695 - 180944827 180965141 - 22301074 100973328 A0A2R9BS04 MODEL JARIFH010000001;XM_003822948;XM_003822949 XP_003822996;XP_003822997 A0A2R9BS04 kelch domain-containing protein 8A protein-coding ENSPPAG00000039119 1 185232882 185239077 - 11686195 LOC100975391 olfactory receptor 5A1 ENCODES a protein that exhibits G protein-coupled receptor activity (inferred); olfactory receptor activity (inferred); INVOLVED IN detection of chemical stimulus involved in sensory perception of smell (inferred); G protein-coupled receptor signaling pathway (inferred); sensory perception of smell (inferred); ASSOCIATED WITH genetic disease (ortholog); intellectual disability (ortholog); leukocyte adhesion deficiency 3 (ortholog); FOUND IN membrane (inferred); plasma membrane (inferred) 11 11 11 61609196 61625736 + 58119285 58120228 + 54667035 54670021 + 22301074;30032202 100975391 A0A2R8Z806 MODEL JARIFH010000012;XM_057299037 XP_057155020 A0A2R8Z806 protein-coding ENSPPAG00000003966 11 58119285 58120228 + 11686198 LOC100975587 olfactory receptor 5AP2 11 11 58809871 58810822 - 51877564 51878515 - 22301074;30032202 100975587 MODEL JARIFH010000012;XM_008957732 XP_008955980 protein-coding 11686199 RIPOR2 RHO family interacting cell polarization regulator 2 ENCODES a protein that exhibits 14-3-3 protein binding (ortholog); INVOLVED IN negative regulation of establishment of T cell polarity (ortholog); negative regulation of T cell migration (ortholog); negative regulation of T cell proliferation (ortholog); ASSOCIATED WITH autosomal dominant nonsyndromic deafness 21 (ortholog); autosomal recessive nonsyndromic deafness 104 (ortholog); genetic disease (ortholog); FOUND IN apical plasma membrane (ortholog); cytoplasm (ortholog); cytoskeleton (ortholog) 6 6 6 35455205 35581073 - 24973412 25099034 - 24642239 24768074 - 100976499 A0A2R9CLI6;A0A2R9CLJ1;A0A2R9CLK7;A0A2R9CLL9;A0A2R9CNN1;A0A2R9CT61 MODEL JARIFH010000007;XM_003823206;XM_008976800;XM_008976802;XM_008976805;XM_008976806;XM_008976807;XM_008976808;XM_034961556;XM_034961558;XM_055113229;XM_055113230;XM_055113231;XM_055113232;XM_055113233 XP_003823254;XP_008975048;XP_008975050;XP_008975053;XP_008975054;XP_034817449;XP_054969204;XP_054969205;XP_054969206;XP_054969207;XP_054969208 A0A2R9CLK7 FAM65B family with sequence similarity 65 member B;rho family-interacting cell polarization regulator 2 APPROVED protein-coding ENSPPAG00000043979 6 24973412 25204745 - 11686252 FGFR3 fibroblast growth factor receptor 3 ENCODES a protein that exhibits fibroblast growth factor binding (ortholog); fibroblast growth factor receptor activity (ortholog); miRNA binding (ortholog); INVOLVED IN alveolar secondary septum development (ortholog); astrocyte differentiation (ortholog); axonogenesis involved in innervation (ortholog); PARTICIPATES IN fibroblast growth factor signaling pathway; ASSOCIATED WITH 46, XY Disorders of Sex Development (ortholog); absence epilepsy (ortholog); acanthosis nigricans (ortholog); FOUND IN cell surface (ortholog); cytoplasmic side of plasma membrane (ortholog); lysosome (ortholog) 4 4 4 2060383 2075946 + 1843780 1858635 + 1933172 1948742 + 22301074;30032202 100976551 A0A2R9AXL3;A0A2R9AXW1;A0A2R9AY68;A0A2R9AY95;A0A2R9B3N3 MODEL JARIFH010000005;XM_034958180;XM_034958181;XM_034958182;XM_034958183;XM_034958184;XM_034958185;XM_034958186;XM_034958187;XM_055111126 XP_034814071;XP_034814072;XP_034814073;XP_034814074;XP_034814075;XP_034814076;XP_034814077;XP_034814078;XP_054967101 A0A2R9AXW1 protein-coding ENSPPAG00000034154 4 1843774 1861692 + 11686289 ZNF862 zinc finger protein 862 ENCODES a protein that exhibits protein dimerization activity (inferred); INVOLVED IN regulation of DNA-templated transcription (inferred); ASSOCIATED WITH genetic disease (ortholog); gingival fibromatosis (ortholog); long QT syndrome (ortholog) 7 7 7 38405069 38434022 + 154013489 154042393 + 141541098 141570053 + 22301074 100976577 A0A2R9C8B2 MODEL JARIFH010000008;XM_003815784;XM_008968796;XM_034965201;XM_034965202;XM_034965203;XM_034965204;XM_034965205;XM_034965206;XR_008626098 XP_003815832;XP_008967044;XP_034821096;XP_034821097 A0A2R9C8B2 protein-coding ENSPPAG00000041754 7 154016309 154039291 + 11686311 KCNG4 potassium voltage-gated channel modifier subfamily G member 4 ENCODES a protein that exhibits delayed rectifier potassium channel activity (inferred); monoatomic ion channel activity (inferred); potassium channel activity (inferred); INVOLVED IN monoatomic ion transmembrane transport (inferred); monoatomic ion transport (inferred); potassium ion transmembrane transport (inferred); ASSOCIATED WITH genetic disease (ortholog); persistent fetal circulation syndrome (ortholog); FOUND IN membrane (inferred); monoatomic ion channel complex (inferred); nucleoplasm (inferred) 16 16 16 99886058 99904154 - 84228460 84246857 - 64886498 64905277 - 22301074;30032202 100977708 A0A2R9C6G9 MODEL JARIFH010000017;XM_003820866 XP_003820914 A0A2R9C6G9 potassium voltage-gated channel subfamily G member 4;potassium voltage-gated channel, subfamily G, member 4 protein-coding ENSPPAG00000041465 16 84228460 84246857 - 11686318 CPT1B carnitine palmitoyltransferase 1B ENCODES a protein that exhibits carnitine O-palmitoyltransferase activity (ortholog); INVOLVED IN long-chain fatty acid transport (ortholog); PARTICIPATES IN fatty acid beta degradation pathway; forkhead class A signaling pathway; ASSOCIATED WITH autism spectrum disorder (ortholog); Cardiomegaly (ortholog); chromosome 22q13 duplication syndrome (ortholog); FOUND IN membrane (inferred); mitochondrial outer membrane (inferred); mitochondrion (inferred) 22 22 22 63179408 63189695 - 49926405 49936633 - 30815073 30825341 - 30032202 100977928 A0A2R8ZLV8;A0A2R8ZN01;A0A2R8ZPL0 MODEL JARIFH010000023;XM_008961498;XM_008961501;XM_034948816;XM_034948817;XM_034948818;XM_055105537;XM_055105538;XM_055105539;XM_057300987;XR_004668598;XR_004668599;XR_008622498;XR_008622499;XR_008622500;XR_008622501;XR_008622502 XP_008959749;XP_054961512;XP_054961513;XP_054961514;XP_057156970 A0A2R8ZN01 carnitine O-palmitoyltransferase 1, muscle isoform protein-coding ENSPPAG00000023865 22 49926893 49935420 - 11686371 PRKN parkin RBR E3 ubiquitin protein ligase ENCODES a protein that exhibits protein kinase binding (ortholog); protein-containing complex binding (ortholog); INVOLVED IN adult locomotory behavior (ortholog); cellular response to hydrogen sulfide (ortholog); cellular response to L-glutamate (ortholog); PARTICIPATES IN altered mitochondrial autophagy pathway; mitochondrial autophagy pathway; Parkinson's disease pathway; ASSOCIATED WITH 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (ortholog); Alzheimer's disease (ortholog); Animal Disease Models (ortholog); FOUND IN axon (ortholog); dopaminergic synapse (ortholog); endoplasmic reticulum membrane (ortholog) 6 6 6 179428720 180815536 - 164498420 165678904 - 159293016 160679106 - 22301074;30032202 100978701 A0A2R9B083;A0A2R9B087;A0A2R9B0G3;A0A2R9B1Q2;A0A2R9B4B9;A0A2R9B4C4 MODEL JARIFH010000007;XM_034963207;XM_034963209;XM_034963210;XM_034963211;XM_034963212;XM_055114294;XM_055114295 XP_034819098;XP_034819100;XP_034819103;XP_054970269;XP_054970270 A0A2R9B1Q2 PARK2 E3 ubiquitin-protein ligase parkin;parkinson protein 2, E3 ubiquitin protein ligase (parkin) APPROVED protein-coding ENSPPAG00000034661 6 164314990 165678770 - 11686386 LOC100979079 60S ribosomal protein L6-like 1 1 1 7537896 7538782 - 222362570 222374509 + 217391368 217395018 + 100979079 MODEL JARIFH010000001 60S ribosomal protein L6 pseudogene APPROVED pseudo 11686387 LOC100980841 protein diaphanous homolog 1 ENCODES a protein that exhibits actin binding (ortholog); identical protein binding (ortholog); profilin binding (ortholog); INVOLVED IN actin cytoskeleton organization (ortholog); actin filament polymerization (ortholog); actin nucleation (ortholog); PARTICIPATES IN E-cadherin signaling pathway; ASSOCIATED WITH autosomal dominant intellectual developmental disorder 31 (ortholog); autosomal dominant nonsyndromic deafness 1 (ortholog); benign neonatal seizures (ortholog); FOUND IN brush border (ortholog); cytoplasm (ortholog); microtubule cytoskeleton (ortholog) 5 5 5 134960673 135007628 - 142990248 143092558 - 136876396 136980097 - 22301074;30032202 100980841 MODEL JARIFH010000006;XM_034960649;XM_034960650 XP_034816540 DIAPH1 diaphanous related formin 1 APPROVED protein-coding 11686421 CPLX1 complexin 1 ENCODES a protein that exhibits SNARE binding (ortholog); syntaxin-1 binding (ortholog); INVOLVED IN synaptic vesicle exocytosis (ortholog); ASSOCIATED WITH Ataxia (ortholog); bipolar disorder (ortholog); cherubism (ortholog); FOUND IN calyx of Held (ortholog); dendrite (ortholog); glutamatergic synapse (ortholog) 4 4 4 1057716 1098951 - 819833 858953 - 889037 930046 - 22301074;30032202 100982609 A0A2R9B3N6;A0A2R9B8K3 MODEL JARIFH010000005;XM_034958110 XP_034814001 A0A2R9B8K3 complexin-1 protein-coding ENSPPAG00000034976 4 819833 858953 - 11686428 LOC100983286 olfactory receptor 2AT4 ENCODES a protein that exhibits G protein-coupled receptor activity (inferred); olfactory receptor activity (inferred); INVOLVED IN detection of chemical stimulus involved in sensory perception of smell (inferred); G protein-coupled receptor signaling pathway (inferred); positive regulation of ERK1 and ERK2 cascade (inferred); ASSOCIATED WITH 3-methylglutaconic aciduria type 7b (ortholog); genetic disease (ortholog); intellectual disability (ortholog); FOUND IN membrane (inferred); plasma membrane (inferred) 11 11 11 77054432 77069537 - 73453301 73454264 - 70147876 70156223 - 22301074 100983286 A0A2R9CL44 MODEL JARIFH010000012;XM_008967458;XM_055094680;XM_057299204 XP_054950655;XP_057155187 A0A2R9CL44 olfactory receptor 2AT4-like APPROVED protein-coding ENSPPAG00000043903 11 73453301 73454264 - 11686431 AGBL5 AGBL carboxypeptidase 5 ENCODES a protein that exhibits metallocarboxypeptidase activity (inferred); tubulin binding (inferred); zinc ion binding (inferred); INVOLVED IN defense response to virus (inferred); proteolysis (inferred); ASSOCIATED WITH fundus dystrophy (ortholog); genetic disease (ortholog); retinitis pigmentosa (ortholog); FOUND IN cytoplasm (inferred); cytoskeleton (inferred); cytosol (inferred) 2A 2A 2A 99448879 99469813 - 27139729 27158538 + 27050510 27069661 + 22301074 100984168 A0A2R9AVJ3;A0A2R9AVW6;A0A2R9AZP4 MODEL JARIFH010000002;XM_003827074;XM_034952814;XM_034952815;XM_034952816;XM_055108138;XM_055108139;XM_055108140;XM_055108141;XM_055108142 XP_054964113;XP_054964114;XP_054964115;XP_054964116;XP_054964117 A0A2R9AZP4 ATP/GTP binding protein like 5;cytosolic carboxypeptidase-like protein 5 APPROVED protein-coding ENSPPAG00000033862 2A 27139729 27158538 + 11686474 CCNB1IP1 cyclin B1 interacting protein 1 ENCODES a protein that exhibits identical protein binding (inferred); metal ion binding (inferred); ubiquitin protein ligase activity (inferred); INVOLVED IN blastocyst formation (ortholog); chiasma assembly (ortholog); spermatid development (ortholog); FOUND IN condensed nuclear chromosome (ortholog); synaptonemal complex (ortholog) 14 14 14 21033856 21056902 - 19235987 19258704 - 1182025 1205471 - 30032202 100984966 A0A2R9AL55 MODEL JARIFH010000015;XM_003811719;XM_003811722;XM_008964108;XM_034937229;XM_034937230;XM_055097226;XM_055097227 XP_034793120;XP_034793121;XP_054953201;XP_054953202 A0A2R9AL55 E3 ubiquitin-protein ligase CCNB1IP1 protein-coding ENSPPAG00000032041 14 19235987 19258663 - 11686497 LOC100985079 zinc finger protein 44 ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN regulation of DNA-templated transcription (inferred) 19 19 19 16150138 16222952 - 12597714 12615722 - 11803873 11855042 - 30032202 100985079 A0A2R9CE03 MODEL JARIFH010000020;XM_008966348;XM_024926615;XM_034946803;XM_034946804;XM_034946805;XM_034946806;XM_034946807;XR_008622085;XR_008622086 XP_008964596;XP_034802698 A0A2R9CE03 LOC100988333;LOC103785282;ZNF44 uncharacterized LOC103785282;zinc finger protein 709;zinc finger protein ZnFP12 PROVISIONAL protein-coding ENSPPAG00000042746 19 12598310 12614197 - 11686505 ATG12 autophagy related 12 INVOLVED IN autophagy (ortholog); macroautophagy (ortholog); negative regulation of defense response to virus (ortholog); PARTICIPATES IN autophagy pathway; ASSOCIATED WITH autistic disorder (ortholog); Brain Injuries (ortholog); familial adenomatous polyposis 1 (ortholog); FOUND IN Atg12-Atg5-Atg16 complex (ortholog); autophagosome (ortholog); intracellular membrane-bounded organelle (ortholog) 5 5 5 109227800 109240196 - 116979738 116992288 - 111184617 111196038 - 22301074;30032202 100986285 A0A2R9BIJ9;A0A2R9BN57 MODEL JARIFH010000006;XM_024928793;XM_034960369 XP_024784561;XP_034816260 A0A2R9BIJ9 ubiquitin-like protein ATG12 protein-coding ENSPPAG00000037112 11686513 GLRX5 glutaredoxin 5 INVOLVED IN [2Fe-2S] cluster assembly (ortholog); protein maturation by [2Fe-2S] cluster transfer (ortholog); protein maturation by [4Fe-4S] cluster transfer (ortholog); PARTICIPATES IN mitochondrial iron-sulfur cluster protein biogenesis pathway; ASSOCIATED WITH autosomal recessive pyridoxine-refractory sideroblastic anemia 2 (ortholog); autosomal recessive pyridoxine-refractory sideroblastic anemia 3 (ortholog); Childhood-Onset Spasticity with Hyperglycinemia (ortholog); FOUND IN dendrite (ortholog); iron-sulfur cluster assembly complex (ortholog); mitochondrial matrix (ortholog) 14 14 14 95905267 95914996 + 95486818 95496438 + 76162541 76172291 + 100986326 MODEL JARIFH010000015;XM_003832923 XP_003832971 glutaredoxin-related protein 5, mitochondrial protein-coding 11686518 DGKI diacylglycerol kinase iota ENCODES a protein that exhibits ATP-dependent diacylglycerol kinase activity (ortholog); INVOLVED IN diacylglycerol metabolic process (ortholog); excitatory postsynaptic potential (ortholog); habituation (ortholog); ASSOCIATED WITH genetic disease (ortholog); pleomorphic xanthoastrocytoma (ortholog); FOUND IN axon terminus (ortholog); cytosol (ortholog); dendritic spine (ortholog) 7 7 7 26202852 26677863 - 141833815 142142262 - 129339330 129812443 - 22301074;30032202 100986855 A0A2R9ASD1;A0A2R9AYY7;A0A2R9AYZ7;A0A2R9AZ05;A0A2R9AZ10 MODEL JARIFH010000008;XM_034965048;XM_034965049;XM_034965050;XM_034965051;XM_034965052;XM_034965053;XM_034965054;XM_034965055;XM_055115416;XM_055115417;XM_055115418 XP_034820939;XP_034820940;XP_034820941;XP_034820942;XP_034820943;XP_034820944;XP_054971391;XP_054971392;XP_054971393 A0A2R9ASD1 protein-coding ENSPPAG00000033273 7 141841852 142142310 - 11686553 ASPSCR1 ASPSCR1 tether for SLC2A4, UBX domain containing INVOLVED IN glucose homeostasis (ortholog); intracellular protein transport (ortholog); regulation of glucose import (ortholog); ASSOCIATED WITH alveolar soft part sarcoma (ortholog); genetic disease (ortholog); FOUND IN cytoplasmic side of plasma membrane (inferred); cytosol (inferred); intracellular membrane-bounded organelle (inferred) 17 17 17 103412215 103453201 + 82084873 82127493 + 76381000 76422189 + 22301074 100988119 A0A2R9C0U3;A0A2R9C0X6;A0A2R9C0Y0;A0A2R9C1D4;A0A2R9C3W7;A0A2R9CB05 MODEL JARIFH010000018;XM_024926186;XM_024926187;XM_034943161;XM_034943162;XM_034943163;XM_034943164;XM_034943165;XM_034943166;XM_055100908;XM_055100909;XM_055100910;XM_055100911;XM_055100912;XM_055100913;XR_004667426;XR_008621579;XR_008621580 XP_054956883;XP_054956884;XP_054956885;XP_054956886;XP_054956887;XP_054956888 A0A2R9C1D4 ASPSCR1, UBX domain containing tether for SLC2A4;tether containing UBX domain for GLUT4 APPROVED protein-coding ENSPPAG00000040568 17 82084873 82127492 + 11686576 IFI27L2 interferon alpha inducible protein 27 like 2 INVOLVED IN apoptotic process (ortholog); response to virus (ortholog); ASSOCIATED WITH achondrogenesis type IA (ortholog); COVID-19 (ortholog); DICER1 syndrome (ortholog); FOUND IN mitochondrial membrane (ortholog) 14 14 14 94501608 94503587 - 94093082 94095062 - 74759874 74761850 - 22301074;30032202 100989352 MODEL JARIFH010000015;XM_003832813 XP_003832861 interferon alpha-inducible protein 27-like protein 2 protein-coding 11686584 FCRL3 Fc receptor like 3 ENCODES a protein that exhibits kinase binding (inferred); phosphatase binding (inferred); protein phosphatase binding (inferred); INVOLVED IN negative regulation of B cell receptor signaling pathway (inferred); negative regulation of immunoglobulin production (inferred); positive regulation of B cell proliferation (inferred); ASSOCIATED WITH autoimmune thyroiditis (ortholog); gastrointestinal stromal tumor (ortholog); genetic disease (ortholog); FOUND IN cell surface (inferred); membrane (inferred) 1 1 1 91888407 91912335 + 136830553 136855042 - 133038100 133062467 - 30032202 100990744 A0A2R9A0E7;A0A2R9A5Z3 MODEL JARIFH010000001;XM_003821016;XM_024926278;XM_034938010;XR_003026172;XR_003026173;XR_612262 XP_003821064 A0A2R9A5Z3 Fc receptor-like protein 3 protein-coding ENSPPAG00000028574 1 136830553 136855027 - 11686613 METTL9 methyltransferase 9, His-X-His N1(pi)-histidine ENCODES a protein that exhibits protein-L-histidine N-pros-methyltransferase activity (inferred); S-adenosylmethionine-dependent methyltransferase activity (inferred); ASSOCIATED WITH autosomal recessive nonsyndromic deafness 22 (ortholog); autosomal recessive nonsyndromic deafness 9 (ortholog); COVID-19 (ortholog); FOUND IN endoplasmic reticulum (ortholog) 16 16 16 28178430 28236517 + 87947539 88005316 + 15664019 15722148 - 22301074;30032202 100990855 A0A2R9AR97;A0A2R9AVS1;A0A2R9AXV8 MODEL JARIFH010000017;XM_003820831;XM_034939870;XR_004666786 XP_003820879;XP_034795761 A0A2R9AXV8 methyltransferase 9, His-X-His N1-histidine;methyltransferase like 9;methyltransferase-like protein 9;protein-L-histidine N-pros-methyltransferase APPROVED protein-coding ENSPPAG00000033160 16 87947735 88003683 + 11686622 GPM6B glycoprotein M6B INVOLVED IN negative regulation of protein localization to cell surface (ortholog); negative regulation of serotonin uptake (ortholog); ASSOCIATED WITH autistic disorder (ortholog); genetic disease (ortholog); Neurodevelopmental Disorders (ortholog); FOUND IN membrane raft (ortholog); plasma membrane (ortholog) X X X 15553884 15720741 - 13666106 13711964 - 6377913 6544826 - 30032202 100991089 A0A2R9BQI3;A0A2R9BQI8 MODEL JARIFH010000024;XM_003805695;XM_003805696;XM_003805697;XM_008974032;XM_034950001;XM_034950002;XM_034950003;XM_034950004;XM_034950005 XP_003805743;XP_003805744;XP_003805745;XP_008972280;XP_034805892;XP_034805893;XP_034805894;XP_034805895 A0A2R9BQI3 neuronal membrane glycoprotein M6-b protein-coding ENSPPAG00000038300 X 13666192 13711964 - 11686639 TMTC4 transmembrane O-mannosyltransferase targeting cadherins 4 ENCODES a protein that exhibits ATPase binding (inferred); dolichyl-phosphate-mannose-protein mannosyltransferase activity (inferred); transferase activity (inferred); INVOLVED IN endoplasmic reticulum unfolded protein response (ortholog); outer hair cell apoptotic process (ortholog); positive regulation of endoplasmic reticulum calcium ion concentration (ortholog); ASSOCIATED WITH Anal Atresia, Hypospadias, and Penoscrotal Inversion (ortholog); genetic disease (ortholog); holoprosencephaly (ortholog); FOUND IN endoplasmic reticulum (inferred); membrane (inferred) 13 13 13 100796197 100866331 - 100910362 100976186 - 81771668 81841926 - 22301074;30032202 100991268 A0A2R8ZUQ3;A0A2R8ZUR7;A0A2R8ZUS1 MODEL JARIFH010000014;XM_034936918;XM_034936919;XM_034936920;XM_055096972 XP_034792809;XP_034792810;XP_054952947 A0A2R8ZUR7 transmembrane and TPR repeat-containing protein 4;transmembrane and tetratricopeptide repeat containing 4 APPROVED protein-coding ENSPPAG00000027591 13 100910277 100976164 - 11686667 RNF208 ring finger protein 208 ENCODES a protein that exhibits metal ion binding (inferred); ubiquitin-protein transferase activity (inferred); INVOLVED IN protein autoubiquitination (inferred); ASSOCIATED WITH Adams-Oliver Syndrome 5 (ortholog); autosomal dominant intellectual developmental disorder 8 (ortholog); developmental and epileptic encephalopathy 14 (ortholog); FOUND IN cytosol (inferred); nucleoplasm (inferred) 9 9 9 2179330 2181768 + 137248585 137249788 - 108279801 108281695 - 30032202 100991383 A0A2R8Z760 MODEL JARIFH010000010;XM_034929628;XM_034929629 XP_034785519;XP_034785520 A0A2R8Z760 LOC100991383 APPROVED protein-coding ENSPPAG00000002712 9 137248765 137249550 - 11686672 PARP11 poly(ADP-ribose) polymerase family member 11 ENCODES a protein that exhibits glycosyltransferase activity (inferred); NAD+ ADP-ribosyltransferase activity (inferred); NAD+-protein ADP-ribosyltransferase activity (inferred); INVOLVED IN nuclear envelope organization (ortholog); protein auto-ADP-ribosylation (ortholog); PARTICIPATES IN ADP-ribosylation pathway, mono and poly-ribosylation; ASSOCIATED WITH genetic disease (ortholog); Hyperphosphatemic Familial Tumoral Calcinosis 1 (ortholog); FOUND IN cytosol (inferred); nuclear body (inferred); nuclear envelope (inferred) 12 12 12 9328236 9420322 - 3854338 3916318 - 3928474 3992713 - 22301074 100992206 A0A2R9BQC4;A0A2R9BQC9 MODEL JARIFH010000013;XM_003820343;XM_008973763;XM_014347075;XM_014347076;XM_014347078;XM_034935202;XM_055095261;XM_055095262;XM_055095263;XM_055095264;XR_004665569 XP_003820391;XP_008972011;XP_014202561;XP_014202562;XP_034791093;XP_054951236;XP_054951237;XP_054951238;XP_054951239 A0A2R9BQC9 poly [ADP-ribose] polymerase 11 protein-coding ENSPPAG00000038296 12 3857256 3879242 - 11686698 RELL1 RELT like 1 INVOLVED IN positive regulation of p38MAPK cascade (inferred); ASSOCIATED WITH Experimental Liver Cirrhosis (ortholog); genetic disease (ortholog); FOUND IN membrane (inferred); microtubule cytoskeleton (inferred); plasma membrane (inferred) 4 4 4 37992302 38066195 - 37798632 37869421 - 31939962 32013856 - 30032202 100992767 A0A2R9AH43 MODEL JARIFH010000005;XM_008957556 XP_008955804 A0A2R9AH43 RELT-like protein 1 protein-coding ENSPPAG00000030468 4 37798632 37869421 - 11686709 MARF1 meiosis regulator and mRNA stability factor 1 ENCODES a protein that exhibits nucleic acid binding (inferred); RNA binding (inferred); RNA nuclease activity (inferred); INVOLVED IN double-strand break repair (ortholog); female meiotic nuclear division (ortholog); ASSOCIATED WITH autistic disorder (ortholog); epilepsy (ortholog); Familial Thoracic Aortic Aneurysm 4 (ortholog); FOUND IN Golgi apparatus (inferred); intracellular membrane-bounded organelle (inferred); peroxisome (inferred) 16 16 19433673 19483079 - 15899788 15948774 - 22301074;30032202 100992785 A0A2R9C420;A0A2R9C4J0;A0A2R9C4J9;A0A2R9C4L6;A0A2R9C740 MODEL JARIFH010000017;XM_003804936;XM_008965398;XM_008965409;XM_008965424;XM_008965432;XM_008965444;XM_024925931;XM_024925932;XM_034951185;XM_055099361;XM_055099362;XM_055099363 XP_003804984;XP_008963646;XP_008963657;XP_008963680;XP_008963692;XP_034807076;XP_054955336;XP_054955337;XP_054955338 A0A2R9C740 KIAA0430 KIAA0430 ortholog;meiosis arrest female protein 1 APPROVED protein-coding ENSPPAG00000041106 16 15897323 15948774 - 11686753 SNX29 sorting nexin 29 ENCODES a protein that exhibits phosphatidylinositol binding (inferred); ASSOCIATED WITH genetic disease (ortholog); schizophrenia (ortholog) 16 16 16 16293348 16887544 + 12406883 12936191 + 10914851 11508853 + 22301074 100993353 A0A2R9BJ32;A0A2R9BJZ4 MODEL JARIFH010000017;XM_034939805;XM_034939806;XM_034939807;XM_055099501 XP_034795696;XP_034795697;XP_054955476 A0A2R9BJ32 LOC100993353 sorting nexin-29 APPROVED protein-coding ENSPPAG00000037848 16 12366908 12930480 + 11686775 ING5 inhibitor of growth family member 5 ENCODES a protein that exhibits chromatin binding (inferred); metal ion binding (inferred); methylated histone binding (inferred); INVOLVED IN apoptotic signaling pathway (ortholog); DNA replication-dependent chromatin disassembly (ortholog); fibroblast proliferation (ortholog); ASSOCIATED WITH Bethlem Myopathy 1 (ortholog); chromosome 2q37 deletion syndrome (ortholog); D-2-hydroxyglutaric aciduria 1 (ortholog); FOUND IN histone acetyltransferase complex (ortholog); MOZ/MORF histone acetyltransferase complex (ortholog); nucleoplasm (ortholog) 2B 2B 2B 144426265 144451842 + 247769128 247793902 + 128979282 129007476 + 30032202 100993789 A0A2R8ZES7;A0A2R8ZET1;A0A2R8ZIA5;A0A2R8ZLC9 MODEL JARIFH010000003;XM_034955585;XM_034955586;XM_034955587;XM_034955589;XM_055109320;XM_055109321;XM_055109322;XM_055109323;XM_055109325;XM_055109326;XM_057301572;XR_004670382;XR_004670383;XR_004670384;XR_004670385;XR_004670386;XR_004670387;XR_004670388;XR_004670389;XR_004670390;XR_004670391;XR_008624623;XR_008624624 XP_034811477;XP_054965295;XP_054965296;XP_054965297;XP_054965298;XP_054965300;XP_054965301;XP_057157555 A0A2R8ZES7 inhibitor of growth protein 5 protein-coding ENSPPAG00000014840 2B 247755552 247793893 + 11686793 LOC100994358 survival motor neuron protein-like 9 9 9 104231793 104232624 - 20785817 20786648 + 20129440 20130271 + 100994358 MODEL JARIFH010000010;XR_004664458 pseudo 11686794 PRCP prolylcarboxypeptidase ENCODES a protein that exhibits hydrolase activity (inferred); serine-type exopeptidase activity (inferred); INVOLVED IN angiogenesis involved in wound healing (ortholog); energy homeostasis (ortholog); glucose homeostasis (ortholog); PARTICIPATES IN kallikrein-kinin cascade pathway; ASSOCIATED WITH brain infarction (ortholog); genetic disease (ortholog); intellectual disability (ortholog); FOUND IN basal part of cell (inferred); intracellular membrane-bounded organelle (inferred); lysosome (inferred) 11 11 11 84807700 84884861 - 81502658 81579504 - 77890115 77967056 - 22301074;30032202 100994652 A0A2R9BCQ3 MODEL JARIFH010000012;XM_003821984;XM_034933453;XM_055093768;XM_055093770;XM_055093771;XM_055093772;XM_055093773;XM_055093774 XP_003822032;XP_034789344;XP_054949743;XP_054949745;XP_054949746;XP_054949747;XP_054949748;XP_054949749 A0A2R9BCQ3 lysosomal Pro-X carboxypeptidase protein-coding ENSPPAG00000035581 11 81502658 81578361 - 11686813 NPFFR2 neuropeptide FF receptor 2 ENCODES a protein that exhibits G protein-coupled receptor activity (inferred); neuropeptide receptor activity (inferred); opioid receptor binding (inferred); INVOLVED IN G protein-coupled receptor signaling pathway (inferred); neuropeptide signaling pathway (inferred); regulation of MAPK cascade (inferred); ASSOCIATED WITH genetic disease (ortholog); FOUND IN actin cytoskeleton (ortholog) 4 4 4 58128207 58246527 - 58393065 58412577 - 52073462 52189443 - 22301074;30032202 100994744 A0A2R9ANW4;A0A2R9ATD3;A0A2R9AVQ6 MODEL JARIFH010000005;XM_024928574;XM_055111445 XP_024784342;XP_054967420 A0A2R9ATD3 protein-coding ENSPPAG00000032694 4 58393065 58508526 - 11686832 MIR133A microRNA mir-133a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 18 18 24939885 24939972 - 18701007 18701094 - 15067933 15068020 - 15652478;16381832 102466890 PROVISIONAL JARIFH010000019;NR_106530 ppa-mir-133a microRNA 133a APPROVED ncrna ENSPPAG00000015275 18 18701007 18701094 - 11686835 LOC103783076 uncharacterized LOC103783076 18 18 18 59010011 59017072 + 52505130 52512117 + 49170441 49177683 + 103783076 MODEL JARIFH010000019;XR_608593 ncrna 11686847 LOC103783928 small nuclear ribonucleoprotein Sm D1-like 13 13 13 101285970 101286406 - 101398669 101399098 - 82261505 82261955 - 30032202 103783928 MODEL JARIFH010000014;XM_034936933 XP_034792824 small nuclear ribonucleoprotein Sm D1 pseudogene APPROVED protein-coding 11686865 LOC106634328 uncharacterized LOC106634328 X X X 130458359 130496316 - 130463313 130504896 - 120161850 120198854 - 106634328 MODEL JARIFH010000024;XR_004668809 ncrna 11686881 LOC106635504 uncharacterized LOC106635504 14 14 14 105492645 105513610 + 105524244 105530319 + 85739952 85747385 + 106635504 MODEL JARIFH010000015;XR_004666361;XR_004666362;XR_004666363;XR_004666364;XR_008620999;XR_008621000;XR_008621001;XR_008621002 ncrna 11686889 UBE2L6 ubiquitin conjugating enzyme E2 L6 ENCODES a protein that exhibits ubiquitin binding (ortholog); INVOLVED IN ISG15-protein conjugation (ortholog); modification-dependent protein catabolic process (ortholog); ASSOCIATED WITH genetic disease (ortholog); Human Influenza (ortholog); intellectual disability (ortholog) 11 11 11 59725156 59741769 - 56264204 56281045 - 52792573 52809253 - 30032202 100967273 A0A2R9CJ18 MODEL JARIFH010000012;XM_003826427;XM_008951835 XP_003826475;XP_008950083 A0A2R9CJ18 ubiquitin/ISG15-conjugating enzyme E2 L6 protein-coding ENSPPAG00000041806 11 56264907 56274733 - 11686900 ZNF512 zinc finger protein 512 ASSOCIATED WITH genetic disease (ortholog); Tatton-Brown-Rahman syndrome (ortholog) 2A 2A 2A 98897008 98937107 - 27667868 27707230 + 27580956 27620982 + 22301074 100970513 A0A2R9B7N9;A0A2R9BBF6 MODEL JARIFH010000002;XM_003827118;XM_003827119;XM_008952485;XM_008952486;XM_008952487;XM_034952851 XP_003827166;XP_008950733 A0A2R9BBF6 protein-coding ENSPPAG00000035926 2A 27667868 27707230 + 11686931 WWC1 WW and C2 domain containing 1 ENCODES a protein that exhibits protein-macromolecule adaptor activity (ortholog); INVOLVED IN cell migration (ortholog); ASSOCIATED WITH genetic disease (ortholog); immunodeficiency 40 (ortholog); malignant mesothelioma (ortholog); FOUND IN protein-containing complex (ortholog) 5 5 5 161591925 161772011 + 170420221 170602373 + 163654833 163835006 + 30032202 100970516 A0A2R8ZFM6;A0A2R8ZG17;A0A2R8ZG21 MODEL JARIFH010000006;XM_003810912;XM_008963295;XM_008963296;XM_008963297;XM_008963298;XM_008963300;XM_024928878;XM_034961317;XM_055112854 XP_003810960;XP_008961543;XP_008961544;XP_008961545;XP_008961546;XP_008961548;XP_024784646;XP_034817208;XP_054968829 A0A2R8ZG17 protein-coding ENSPPAG00000015956 5 170418414 170602373 + 11686968 LOC100971374 thioredoxin-interacting protein ENCODES a protein that exhibits enzyme inhibitor activity (ortholog); INVOLVED IN negative regulation of transcription by RNA polymerase II (ortholog); platelet-derived growth factor receptor signaling pathway (ortholog); positive regulation of apoptotic process (ortholog); ASSOCIATED WITH colorectal cancer (ortholog); Experimental Diabetes Mellitus (ortholog); Experimental Mammary Neoplasms (ortholog); FOUND IN cytoplasm (ortholog) 1 1 1 104844009 104850270 - 113902839 113906239 - 90007878 90012055 + 30032202 100971374 MODEL JARIFH010000001;XM_034930440;XM_055102257 XP_034786331;XP_054958232 TXNIP APPROVED protein-coding 11686975 PRM1 protamine 1 ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN nucleus organization (ortholog); spermatid development (ortholog); ASSOCIATED WITH Charcot-Marie-Tooth disease type 1C (ortholog); genetic disease (ortholog); Landau-Kleffner syndrome (ortholog); FOUND IN cytoplasm (ortholog); cytosol (ortholog); male germ cell nucleus (ortholog) 16 16 16 15599576 15601748 - 11444606 11445114 - 10222779 10223289 - 22301074 130540895 P35308 MODEL AH009134;JARIFH010000017;L14590;XM_008960361;XM_057300031 AAA51440;AAF34628;P35308;XP_057156014 P35308 P1;protamine Cysteine-rich protamine;Sperm protamine P1 protein-coding ENSPPAG00000028645 11686981 LOC100971768 spermine synthase-like X X X 49348311 49349616 - 48050316 48051449 - 40154333 40155638 - 100971768 MODEL JARIFH010000024 spermine synthase pseudogene APPROVED pseudo 11686992 TMEM115 transmembrane protein 115 ENCODES a protein that exhibits identical protein binding (inferred); INVOLVED IN retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum (inferred); ASSOCIATED WITH developmental and epileptic encephalopathy (ortholog); early infantile epileptic encephalopathy (ortholog); genetic disease (ortholog); FOUND IN Golgi transport complex (ortholog) 3 3 3 50340124 50344995 - 51516157 51520976 - 50280876 50285900 - 22301074;30032202 100972487 A0A2R8ZJV2 MODEL JARIFH010000004;XM_003818811 XP_003818859 A0A2R8ZJV2 protein-coding ENSPPAG00000021782 3 51516157 51520976 - 11686998 AATK apoptosis associated tyrosine kinase ENCODES a protein that exhibits ATP binding (inferred); heme binding (inferred); nucleotide binding (inferred); INVOLVED IN apoptotic process (ortholog); brain development (ortholog); neuron apoptotic process (ortholog); ASSOCIATED WITH genetic disease (ortholog); FOUND IN endoplasmic reticulum (ortholog) 17 17 17 102596003 102644734 - 81270697 81319789 - 75542565 75591208 - 22301074;30032202 100973746 A0A2R8Z5V2 MODEL JARIFH010000018;XM_003831132;XM_008956526;XM_008956527;XM_008956529;XM_008956530;XM_034943074;XM_034943075;XM_034943076 XP_003831180;XP_008954774;XP_008954775;XP_008954777;XP_008954778;XP_034798965;XP_034798966;XP_034798967 A0A2R8Z5V2 serine/threonine-protein kinase LMTK1 protein-coding ENSPPAG00000000212 17 81270707 81319789 - 11687034 PTPRE protein tyrosine phosphatase receptor type E ENCODES a protein that exhibits identical protein binding (ortholog); INVOLVED IN negative regulation of insulin receptor signaling pathway (ortholog); regulation of mast cell activation (ortholog); transmembrane receptor protein tyrosine phosphatase signaling pathway (ortholog); ASSOCIATED WITH distal 10q deletion syndrome (ortholog); genetic disease (ortholog); FOUND IN cytoplasm (inferred); membrane (inferred); nucleus (inferred) 10 10 10 139790073 139969429 + 128744234 128922584 + 124494150 124673579 + 22301074 100973870 A0A2R8ZB11;A0A2R8ZBK7;A0A2R8ZBL6 MODEL JARIFH010000011;XM_008969342;XM_008969343;XM_034931704;XM_034931705;XM_034931706;XM_034931707;XM_034931708;XM_055093475;XM_055093476;XM_055093478;XM_055093479;XM_055093480;XM_055093481 XP_008967591;XP_034787595;XP_034787596;XP_034787598;XP_054949450;XP_054949451;XP_054949453;XP_054949454;XP_054949455;XP_054949456 A0A2R8ZB11 receptor-type tyrosine-protein phosphatase epsilon APPROVED protein-coding ENSPPAG00000009555 10 128836367 128922584 + 11687069 LOC100973885 60S ribosomal protein L7-like 7 7 7 33616280 33617046 - 149242175 149242949 - 136756065 136756841 - 100973885 MODEL JARIFH010000008 60S ribosomal protein L7 pseudogene APPROVED pseudo 11687071 LOC100977527 centrosomal protein of 57 kDa 1 6 6 76031164 76044728 + 122678903 122680756 - 118539381 118542626 - 22301074;30032202 100977527 MODEL JARIFH010000001;XM_034962784;XM_055100298 XP_054956273 LOC100970845 centrosomal protein of 57 kDa pseudogene;centrosomal protein of 57 kDa-like PROVISIONAL protein-coding 11687074 LRRC32 leucine rich repeat containing 32 ENCODES a protein that exhibits transforming growth factor beta binding (inferred); INVOLVED IN negative regulation of activated T cell proliferation (ortholog); negative regulation of cytokine production (ortholog); positive regulation of gene expression (ortholog); ASSOCIATED WITH Cleft Palate, Proliferative Retinopathy, and Developmental Delay (ortholog); Developmental Disabilities (ortholog); genetic disease (ortholog); FOUND IN cell surface (inferred); membrane (inferred); nucleoplasm (inferred) 11 11 11 78624450 78637749 - 75354997 75368187 - 71708222 71721426 - 22301074;30032202 100977955 A0A2R9A4I4 MODEL JARIFH010000012;XM_003808154;XM_008960255;XM_014346939;XM_034933412;XM_034933413;XM_034933414;XM_034933415;XM_034933416;XM_057299206 XP_003808202;XP_014202425;XP_034789305;XP_034789307;XP_057155189 A0A2R9A4I4 leucine-rich repeat-containing protein 32;transforming growth factor beta activator LRRC32 protein-coding ENSPPAG00000028327 11 75354997 75367440 - 11687089 DDX39B DExD-box helicase 39B ENCODES a protein that exhibits ATP hydrolysis activity (ortholog); protein-containing complex binding (ortholog); INVOLVED IN liver development (ortholog); positive regulation of cell growth involved in cardiac muscle cell development (ortholog); positive regulation of DNA biosynthetic process (ortholog); PARTICIPATES IN NXF1-NXT1 export pathway; spliceosome pathway; ASSOCIATED WITH genetic disease (ortholog); JMP syndrome (ortholog); megacolon (ortholog); FOUND IN cytoplasm (ortholog); nuclear matrix (ortholog); protein-containing complex (ortholog) 6 6 6 41968724 41980648 - 32081210 32093135 - 31191333 31203246 - 22301074;30032202 100978005 A0A2R9CQC1;A0A2R9CQC3 MODEL JARIFH010000007;XM_003831590;XM_003831591;XM_008956949;XM_034961729;XM_034961730;XM_034961731;XM_055113377 XP_003831638;XP_003831639;XP_008955197;XP_054969352 A0A2R9CQC1 DEAD-box helicase 39B;spliceosome RNA helicase DDX39B protein-coding ENSPPAG00000043072 6 32081210 32092569 - 11687116 RUFY1 RUN and FYVE domain containing 1 ENCODES a protein that exhibits identical protein binding (ortholog); INVOLVED IN protein transport (ortholog); regulation of endocytosis (ortholog); small GTPase mediated signal transduction (ortholog); ASSOCIATED WITH Ehlers-Danlos syndrome dermatosparaxis type (ortholog); frontotemporal dementia and/or amyotrophic lateral sclerosis-1 (ortholog); genetic disease (ortholog); FOUND IN cytosol (ortholog); late endosome (ortholog) 5 5 5 172627363 172688915 + 181978596 182039825 + 174699240 174760876 + 22301074;30032202 100978432 A0A2R9A4I0 MODEL JARIFH010000006;XM_034961170;XM_034961171;XM_034961172;XM_034961173 XP_034817061;XP_034817062;XP_034817063;XP_034817064 A0A2R9A4I0 RUN and FYVE domain-containing protein 1 protein-coding ENSPPAG00000029293 5 181978601 182039332 + 11687139 ERGIC2 ERGIC and golgi 2 INVOLVED IN endoplasmic reticulum to Golgi vesicle-mediated transport (inferred); intracellular transport (inferred); retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum (inferred); ASSOCIATED WITH genetic disease (ortholog); FOUND IN endoplasmic reticulum-Golgi intermediate compartment (ortholog); retrograde transporter complex, Golgi to ER (ortholog); transporter complex (ortholog) 12 12 12 67427767 67499581 + 59553049 59596433 + 56929620 56970804 + 30032202 100978997 A0A2R9ABJ9;A0A2R9ABK3 MODEL JARIFH010000013;XM_003828835;XM_034936108;XM_055095797;XR_008620431 XP_003828883;XP_034791999;XP_054951772 A0A2R9ABJ9 endoplasmic reticulum-Golgi intermediate compartment protein 2 protein-coding ENSPPAG00000029564 12 59553049 59595953 + 11687161 PSIP1 PC4 and SRSF1 interacting protein 1 ENCODES a protein that exhibits chromatin binding (ortholog); DNA-binding transcription factor binding (ortholog); supercoiled DNA binding (ortholog); INVOLVED IN positive regulation of transcription by RNA polymerase II (ortholog); response to heat (ortholog); response to oxidative stress (ortholog); ASSOCIATED WITH acute myeloid leukemia (ortholog); genetic disease (ortholog); FOUND IN euchromatin (ortholog); heterochromatin (ortholog); nuclear periphery (ortholog) 9 9 9 109049057 109095949 + 15784740 15831449 - 15280947 15327897 - 30032202 100979736 A0A2R9ABH7;A0A2R9ABI5;A0A2R9ACK3 MODEL JARIFH010000010;XM_003822617;XM_008976205;XM_008976206;XM_024930033;XM_024930034;XM_024930035;XM_055092113;XM_055092114;XM_055092115;XM_057298739 XP_003822665;XP_008974453;XP_008974454;XP_024785802;XP_054948088;XP_054948089;XP_054948090;XP_057154722 A0A2R9ABH7 LOC100979736 PC4 and SFRS1 interacting protein 1 APPROVED protein-coding ENSPPAG00000030461 9 15784740 15831449 - 11687188 BGLAP bone gamma-carboxyglutamate protein ENCODES a protein that exhibits calcium-dependent protein binding (ortholog); hormone activity (ortholog); ion binding (ortholog); INVOLVED IN bone development (ortholog); brain development (ortholog); cellular response to BMP stimulus (ortholog); PARTICIPATES IN fibroblast growth factor signaling pathway; ASSOCIATED WITH asthma (ortholog); autosomal dominant hypocalcemia (ortholog); Bone Fractures (ortholog); FOUND IN cell projection (ortholog); collagen-containing extracellular matrix (ortholog); dendrite (ortholog) 1 1 1 93333985 93337006 - 135413871 135416432 + 131583789 131586459 + 22301074;30032202 100980319 A0A2R9CDC0;A1YG30 MODEL DQ977209;JARIFH010000001;XM_008974558 ABM54255;XP_008972806 A0A2R9CDC0 osteocalcin protein-coding ENSPPAG00000042608 1 135413871 135416432 + 11687196 C1QL2 complement C1q like 2 ENCODES a protein that exhibits identical protein binding (inferred); INVOLVED IN neurotransmitter receptor localization to postsynaptic specialization membrane (inferred); postsynaptic density assembly (inferred); regulation of synapse maturation (inferred); ASSOCIATED WITH genetic disease (ortholog); FOUND IN cerebellar climbing fiber to Purkinje cell synapse (ortholog); glutamatergic synapse (ortholog); hippocampal mossy fiber to CA3 synapse (ortholog) 2B 2B 2B 21180541 21184668 - 119679281 119682993 - 6097758 6102622 - 22301074 100980432 A0A2R9B551;A0A2R9B8W5;A0A2R9BC28 MODEL JARIFH010000003;XM_034953934 XP_034809825 A0A2R9B8W5 complement C1q-like protein 2 protein-coding ENSPPAG00000035484 2B 119679840 119686120 - 11687203 PRSS16 serine protease 16 ENCODES a protein that exhibits hydrolase activity (inferred); serine-type exopeptidase activity (inferred); INVOLVED IN proteolysis (inferred); ASSOCIATED WITH genetic disease (ortholog); FOUND IN endosome (inferred); lysosome (inferred) 6 6 6 37894289 37902998 + 27743059 27751943 + 27080376 27089098 + 22301074;30032202 100980491 A0A2R9A5V9;A0A2R9AB85 MODEL JARIFH010000007;XM_003810935;XR_004671878 XP_003810983 A0A2R9A5V9 protease, serine 16;thymus-specific serine protease APPROVED protein-coding ENSPPAG00000029526 6 27742435 27751943 + 11687219 OPRL1 opioid related nociceptin receptor 1 ENCODES a protein that exhibits G protein-coupled opioid receptor activity (inferred); G protein-coupled receptor activity (inferred); nociceptin receptor activity (inferred); INVOLVED IN calcium-mediated signaling (ortholog); conditioned place preference (ortholog); eating behavior (ortholog); ASSOCIATED WITH alcohol use disorder (ortholog); Anorexia (ortholog); autism spectrum disorder (ortholog); FOUND IN synaptic membrane (ortholog) 20 20 69894773 69914345 + 62004176 62017866 + 22301074;30032202 100981362 A0A2R9C5I3 MODEL JARIFH010000021;XM_008962315;XM_024926882;XM_034952126;XM_034952127;XM_034952128;XM_055104538;XM_057300792 XP_008960563;XP_024782650;XP_034808017;XP_034808018;XP_034808019;XP_054960513;XP_057156775 A0A2R9C5I3 nociceptin receptor protein-coding ENSPPAG00000041333 20 62004176 62017866 + 11687234 PPFIBP1 PPFIA binding protein 1 ASSOCIATED WITH epilepsy (ortholog); genetic disease (ortholog); intellectual disability (ortholog); FOUND IN plasma membrane (inferred) 12 12 12 69114862 69286156 - 61234873 61406076 - 58616002 58787280 - 22301074;30032202 100982505 A0A2R9AVD3;A0A2R9B1G1;A0A2R9B1G5 MODEL JARIFH010000013;XM_003828844;XM_003828845;XM_003828846;XM_008954278;XM_008954279;XM_008954282;XM_008954283;XM_008954284;XM_008954286;XM_034936130;XM_055095804;XM_055095805;XM_055095806;XM_055095807;XM_055095808;XM_055095809;XM_055095810 XP_003828892;XP_003828893;XP_003828894;XP_008952526;XP_008952527;XP_008952530;XP_008952531;XP_008952532;XP_008952534;XP_034792021;XP_054951779;XP_054951780;XP_054951781;XP_054951782;XP_054951783;XP_054951784;XP_054951785 A0A2R9AVD3 liprin-beta-1 protein-coding ENSPPAG00000033579 12 61234873 61296894 - 11687284 CCDC81 coiled-coil domain containing 81 ASSOCIATED WITH exudative vitreoretinopathy 1 (ortholog); genetic disease (ortholog); intellectual disability (ortholog); FOUND IN centrosome (inferred) 11 11 11 88344597 88397391 + 85038184 85086480 + 81430816 81480782 + 30032202 100983306 A0A2R9ARH6;A0A2R9AVX8 MODEL JARIFH010000012;XM_003832979;XM_055093834 XP_003833027;XP_054949809 A0A2R9ARH6 coiled-coil domain-containing protein 81 protein-coding ENSPPAG00000033187 11 85038184 85086480 + 11687309 LY86 lymphocyte antigen 86 INVOLVED IN lipopolysaccharide-mediated signaling pathway (ortholog); positive regulation of lipopolysaccharide-mediated signaling pathway (ortholog); ASSOCIATED WITH Brain Injuries (ortholog); calcinosis (ortholog); Experimental Liver Cirrhosis (ortholog) 6 6 6 17228488 17295386 + 6610431 6676696 + 6429846 6496664 + 30032202 100983338 A0A2R9AM31 MODEL JARIFH010000007;XM_003806723 XP_003806771 A0A2R9AM31 protein-coding ENSPPAG00000032346 6 6610431 6676696 + 11687318 PROB1 proline rich basic protein 1 ASSOCIATED WITH autosomal dominant intellectual developmental disorder 31 (ortholog); familial adenomatous polyposis 1 (ortholog); genetic disease (ortholog); FOUND IN nucleoplasm (inferred) 5 5 5 132797012 132802081 - 140884440 140889138 - 134761660 134767557 - 30032202 100983388 A0A2R8ZGE5 MODEL JARIFH010000006;XM_003829204 XP_003829252 A0A2R8ZGE5 proline-rich basic protein 1 protein-coding ENSPPAG00000007840 5 140885875 140888922 - 11687323 TRIM31 tripartite motif containing 31 ENCODES a protein that exhibits metal ion binding (inferred); transcription coactivator activity (inferred); ubiquitin protein ligase activity (inferred); INVOLVED IN antiviral innate immune response (inferred); defense response to virus (inferred); innate immune response (inferred); ASSOCIATED WITH genetic disease (ortholog); irritant dermatitis (ortholog); megacolon (ortholog); FOUND IN cytoplasm (inferred); mitochondrion (inferred) 6 6 6 40656853 40683843 - 30550802 30560993 - 29880668 29890905 - 22301074;30032202 100983510 A0A2R9CA71;A0A2R9CAF9;A0A2R9CCX3 MODEL JARIFH010000007;XM_034961693;XM_055113318;XM_055113319;XM_055113320;XM_055113322;XM_055113323;XM_055113324;XM_055113325 XP_054969293;XP_054969294;XP_054969295;XP_054969297;XP_054969298;XP_054969299;XP_054969300 A0A2R9CA71 E3 ubiquitin-protein ligase TRIM31 protein-coding ENSPPAG00000042134 6 30550802 30560977 - 11687348 BAP1 BRCA1 associated protein 1 ENCODES a protein that exhibits chromatin binding (inferred); chromatin DNA binding (inferred); cysteine-type deubiquitinase activity (inferred); INVOLVED IN macrophage homeostasis (ortholog); monoubiquitinated protein deubiquitination (ortholog); positive regulation of protein targeting to mitochondrion (ortholog); PARTICIPATES IN histone modification pathway; ASSOCIATED WITH adenoid cystic carcinoma (ortholog); adrenocortical carcinoma (ortholog); basal cell carcinoma (ortholog); FOUND IN PR-DUB complex (ortholog) 3 3 3 52401975 52410291 - 53573785 53581943 - 52344067 52352187 - 22301074;30032202 100985439 A0A2R9A4W5;A0A2R9A4W9 MODEL JARIFH010000004;XM_003818761;XM_014344234;XM_014344235;XM_014344236;XM_034956601 XP_003818809;XP_014199720;XP_034812492 A0A2R9A4W5 ubiquitin carboxyl-terminal hydrolase BAP1 protein-coding ENSPPAG00000028588 3 53573785 53581943 - 11687374 LOC100985648 interferon-induced transmembrane protein 3-like 8 8 8 54778020 54778658 + 61617916 61618314 + 59945374 59946026 + 30032202 100985648 MODEL JARIFH010000009;XM_034966156 XP_034822047 interferon-induced transmembrane protein 3 pseudogene APPROVED protein-coding 11687375 LOC100986421 60S ribosomal protein L7a-like 14 14 14 55871221 55881359 + 54391415 54402584 + 36118867 36130930 + 100986421 MODEL JARIFH010000015 60S ribosomal protein L7a pseudogene APPROVED pseudo 11687376 TMEM14C transmembrane protein 14C INVOLVED IN erythrocyte differentiation (ortholog); mitochondrial transport (ortholog); nitrogen compound transport (ortholog); ASSOCIATED WITH cataract 13 with adult i phenotype (ortholog); genetic disease (ortholog); FOUND IN membrane (inferred); mitochondrial inner membrane (inferred); mitochondrion (inferred) 6 6 6 21362090 21370454 + 10843062 10851278 + 10564011 10572177 + 30032202 100987518 A0A2R9BX17 MODEL JARIFH010000007;XM_003827552;XM_034961433;XM_034961434 XP_003827600;XP_034817324;XP_034817325 A0A2R9BX17 protein-coding ENSPPAG00000038469 6 10843062 10851278 + 11687395 LOC100988177 X-ray repair cross-complementing protein 6-like 10 10 10 105247560 105250702 - 93462540 93465456 - 89950522 89953655 - 100988177 MODEL JARIFH010000011;XR_003028977 pseudo 11687396 LOC100988205 hsc70-interacting protein-like 8 8 8 126312535 126313730 + 133037665 133038768 + 130063676 130064822 + 100988205 MODEL JARIFH010000009 hsc70-interacting protein pseudogene APPROVED pseudo 11687397 NFE2L1 NFE2 like bZIP transcription factor 1 ENCODES a protein that exhibits cholesterol binding (ortholog); chromatin binding (ortholog); DNA-binding transcription activator activity, RNA polymerase II-specific (ortholog); INVOLVED IN cell redox homeostasis (ortholog); cellular homeostasis (ortholog); cellular response to cholesterol (ortholog); ASSOCIATED WITH Developmental Disabilities (ortholog); genetic disease (ortholog); hepatocellular carcinoma (ortholog); FOUND IN endoplasmic reticulum (ortholog); endoplasmic reticulum membrane (ortholog); protein-containing complex (ortholog) 17 17 17 19007939 19021206 - 9657847 9671040 - 9476482 9489661 - 30032202 100988657 A0A2R9AIZ4;A0A2R9ANQ5;A0A2R9ANQ6 MODEL JARIFH010000018;XM_003827492;XM_003827493;XM_008952833;XM_008952834;XM_008952835;XM_008952836;XM_008952839;XM_008952840;XM_008952841;XM_008952843;XM_008952844;XM_055101280;XM_055101281;XM_055101282 XP_003827540;XP_003827541;XP_008951081;XP_008951082;XP_008951084;XP_008951087;XP_008951088;XP_008951092;XP_054957255;XP_054957256;XP_054957257 A0A2R9ANQ5 endoplasmic reticulum membrane sensor NFE2L1;nuclear factor (erythroid-derived 2)-like 1;nuclear factor erythroid 2-related factor 1;nuclear factor, erythroid 2 like 1 APPROVED protein-coding ENSPPAG00000031737 17 9657847 9671040 - 11687443 MRPS17 mitochondrial ribosomal protein S17 ENCODES a protein that exhibits structural constituent of ribosome (inferred); INVOLVED IN translation (inferred); ASSOCIATED WITH autistic disorder (ortholog); genetic disease (ortholog); pleomorphic xanthoastrocytoma (ortholog); FOUND IN mitochondrial small ribosomal subunit (inferred); ribosome (inferred) 7 7 7 109128544 109133564 + 56988629 56992900 + 56564787 56569715 + 22301074;30032202 100990009 A0A2R9BKT7 MODEL JARIFH010000008;XM_003811398 XP_003811446 A0A2R9BKT7 28S ribosomal protein S17, mitochondrial protein-coding ENSPPAG00000036712 7 56988778 56993467 + 11687455 ASAP1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 ENCODES a protein that exhibits GTPase activator activity (ortholog); phosphatidylinositol-3-phosphate binding (ortholog); phosphatidylinositol-4,5-bisphosphate binding (ortholog); INVOLVED IN negative regulation of dendritic spine development (ortholog); positive regulation of membrane tubulation (ortholog); positive regulation of podosome assembly (ortholog); PARTICIPATES IN Arf family mediated signaling pathway; ASSOCIATED WITH genetic disease (ortholog); juvenile rheumatoid arthritis (ortholog); pulmonary tuberculosis (ortholog); FOUND IN cell projection membrane (ortholog); cytosol (ortholog); glutamatergic synapse (ortholog) 8 8 8 122937455 123329737 - 129420586 130028270 - 126688608 127080662 - 22301074;30032202 100990513 A0A2R9CAE5;A0A2R9CAH8;A0A2R9CAK4;A0A2R9CAK9;A0A2R9CAS9;A0A2R9CD19;A0A2R9CLD8 MODEL JARIFH010000009;XM_034966599;XM_034966600;XM_034966601;XM_034966602;XM_034966603;XM_034966604;XM_034966605;XM_034966606;XM_034966607;XM_034966608;XM_034966609;XM_055116949;XM_055116950;XM_055116951;XM_055116952;XM_055116953;XM_055116954;XM_055116955;XM_055116956;XM_055116958;XM_055116959 XP_034822493;XP_034822500;XP_054972924;XP_054972925;XP_054972926;XP_054972927;XP_054972928;XP_054972929;XP_054972930;XP_054972931;XP_054972933;XP_054972934 A0A2R9CAH8 LOC103783545 arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1;arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1-like PROVISIONAL protein-coding ENSPPAG00000041936 8 129418796 130021261 - 11687489 CD209 CD209 molecule ENCODES a protein that exhibits virus receptor activity (ortholog); INVOLVED IN B cell adhesion (ortholog); positive regulation of T cell proliferation (ortholog); positive regulation of viral life cycle (ortholog); ASSOCIATED WITH acquired immunodeficiency syndrome (ortholog); aspergillosis (ortholog); asthma (ortholog); FOUND IN external side of plasma membrane (ortholog); plasma membrane (ortholog) 19 19 19 11538933 11546022 - 7884253 7901144 - 7042033 7047350 - 100990567 A0A2R9CMA7;A0A2R9CMD9;A0A2R9CP63;A0A2R9CTK3;B2BSL8 MODEL EU041926;JARIFH010000020;XM_034945315 ABW34403;XP_034801206 A0A2R9CP63 LOC100990567 CD209 antigen;CD209 antigen-like protein 2;immunity adhesion receptor CD209L2;immunity adhesion receptor DC-SIGN APPROVED protein-coding ENSPPAG00000044101 11687499 ART3 ADP-ribosyltransferase 3 (inactive) ENCODES a protein that exhibits glycosyltransferase activity (inferred); NAD+-protein-arginine ADP-ribosyltransferase activity (inferred); nucleotidyltransferase activity (inferred); ASSOCIATED WITH genetic disease (ortholog); progressive myoclonus epilepsy (ortholog); FOUND IN membrane (inferred) 4 4 4 54150391 54252086 - 53931454 54032652 - 48093339 48194785 - 22301074;30032202 100992183 A0A2R9BJ54;A0A2R9BK15;A0A2R9BMS0;A0A2R9BMS9 MODEL JARIFH010000005;XM_034958629;XM_034958630;XM_034958631;XM_034958632;XM_034958633;XM_034958634;XM_034958635;XM_034958636;XM_034958637;XM_034958638;XM_034958640;XM_034958641;XM_055111404;XM_055111405;XM_055111406;XM_055111407;XM_055111408;XM_055111409 XP_034814520;XP_034814521;XP_034814525;XP_034814526;XP_034814528;XP_034814531;XP_034814532;XP_054967379;XP_054967380;XP_054967381;XP_054967382;XP_054967383;XP_054967384 A0A2R9BJ54 ADP-ribosyltransferase 3;ecto-ADP-ribosyltransferase 3 APPROVED protein-coding ENSPPAG00000037879 4 53931454 53969512 - 11687532 LOC100992837 glyceraldehyde-3-phosphate dehydrogenase-like 12 12 12 13138038 13146369 + 7867999 7875245 + 7706557 7714228 + 100992837 MODEL JARIFH010000013 glyceraldehyde-3-phosphate dehydrogenase pseudogene APPROVED pseudo 11687533 LOC100993263 cleavage and polyadenylation specificity factor subunit 1-like 22 22 22 44910363 44927055 + 31134315 31182982 + 13279796 13328570 + 100993263 MODEL JARIFH010000023 cleavage and polyadenylation specificity factor subunit 1 pseudogene APPROVED pseudo 11687534 RPL19 ribosomal protein L19 ENCODES a protein that exhibits 5.8S rRNA binding (ortholog); large ribosomal subunit rRNA binding (ortholog); INVOLVED IN cytoplasmic translation (ortholog); liver regeneration (ortholog); PARTICIPATES IN ribosome biogenesis pathway; translation pathway; ASSOCIATED WITH Diamond-Blackfan anemia (ortholog); FOUND IN cytoplasm (ortholog); cytosol (ortholog); cytosolic large ribosomal subunit (ortholog) 17 17 17 27627713 27632224 - 18342003 18346453 - 18066656 18071158 - 22301074;30032202 100993997 A0A2R9B688;A0A2R9B697 MODEL JARIFH010000018;XM_003809836;XM_008962125 XP_003809884;XP_008960373 A0A2R9B697 60S ribosomal protein L19 protein-coding ENSPPAG00000035412 17 18342003 18346399 - 11687547 SCYL2 SCY1 like pseudokinase 2 ENCODES a protein that exhibits ATP binding (inferred); protein kinase activity (inferred); signaling receptor binding (inferred); INVOLVED IN brain development (ortholog); pyramidal neuron development (ortholog); ASSOCIATED WITH arthrogryposis multiplex congenita-4 (ortholog); genetic disease (ortholog) 12 12 12 108329559 108401253 + 101255169 101326808 + 97848852 97920561 + 22301074 100994146 A0A2R9ALN0;A0A2R9ALP4;A0A2R9AM70 MODEL JARIFH010000013;XM_003832603;XM_008958036;XM_008958037;XM_008958038;XM_034934331;XM_055096024 XP_003832651;XP_008956286;XP_054951999 A0A2R9AM70 SCY1-like 2;SCY1-like protein 2 protein-coding ENSPPAG00000032245 12 101255412 101326808 + 11687585 LOC100994383 succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial-like 3 3 3 167608274 167608858 + 174777180 174777732 + 166723336 166723909 + 100994383 MODEL JARIFH010000004;XR_611640 succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial pseudogene APPROVED pseudo 11687588 TBR1 T-box brain transcription factor 1 ENCODES a protein that exhibits chromatin DNA binding (ortholog); DNA binding (ortholog); DNA-binding transcription factor activity (ortholog); INVOLVED IN amygdala development (ortholog); cerebral cortex development (ortholog); chromatin remodeling (ortholog); ASSOCIATED WITH autism spectrum disorder (ortholog); autistic disorder (ortholog); complex cortical dysplasia with other brain malformations (ortholog); FOUND IN nucleus (ortholog) 2B 2B 2B 64119913 64132886 + 166079344 166089098 + 48709687 48719382 + 22301074;30032202 100995193 MODEL JARIFH010000003;XM_034954378 XP_034810269 T-box brain protein 1;T-box, brain 1 APPROVED protein-coding 11687599 GATD1 glutamine amidotransferase class 1 domain containing 1 ASSOCIATED WITH Chanarin-Dorfman syndrome (ortholog); delta beta-thalassemia (ortholog); developmental and epileptic encephalopathy (ortholog) 11 11 11 2374824 2385006 - 828923 839334 - 784569 794911 - 100995198 A0A2R9C823;A0A2R9CAV9 MODEL JARIFH010000012;XM_034931849;XM_034931850;XM_034931851;XM_034931852;XM_034931853;XM_034931854;XM_034931855;XM_034931856;XM_034931857;XM_034931858;XM_057299052;XM_057299053;XM_057299054;XR_004664946 XP_034787740;XP_034787741;XP_034787742;XP_034787746;XP_057155035;XP_057155036;XP_057155037 A0A2R9C823 PDDC1 Parkinson disease 7 domain containing 1;Parkinson disease 7 domain-containing protein 1;glutamine amidotransferase like class 1 domain containing 1;glutamine amidotransferase-like class 1 domain-containing protein 1 APPROVED protein-coding ENSPPAG00000041762 11 833230 839421 - 11687628 PRR20G proline rich 20G 3 3 3 125213102 125353215 - 131679443 131746394 - 124329882 124470021 - 103785500 A0A2R9BIV6 MODEL JARIFH010000004;XM_003815257;XM_034957296;XM_055110391;XR_004670704;XR_004670705;XR_004670706;XR_004670707;XR_004670708;XR_008624863;XR_008624864;XR_008624865;XR_008624866;XR_008624867;XR_008624868;XR_008955397;XR_611193 XP_054966366 A0A2R9BIV6 LOC100973511;LOC103785500 proline-rich protein 20A-like;proline-rich protein 20G;uncharacterized LOC103785500 APPROVED protein-coding ENSPPAG00000037173 3;3 131640264;131640264 131643856;131643856 -;- 11687641 LOC103786356 uncharacterized LOC103786356 6 6 6 181363583 181407387 - 166253016 166267535 - 161228868 161270656 - 103786356 MODEL JARIFH010000007;XR_004672249;XR_004672250;XR_004672251;XR_004672252;XR_004672253;XR_004672254;XR_004672255;XR_004672256;XR_008625816;XR_008625817 LOC106634929 uncharacterized LOC106634929 PROVISIONAL ncrna 11687649 LOC106634213 keratin-associated protein 19-4 21 21 21 21491418 21492078 - 30269806 30270105 - 16885320 16886071 - 106634213 MODEL JARIFH010000022;XM_014343136 XP_014198622 protein-coding 11687655 NAV2 neuron navigator 2 ENCODES a protein that exhibits 3'-5' DNA helicase activity (inferred); ATP hydrolysis activity (inferred); heparin binding (inferred); INVOLVED IN cerebellar cortex development (ortholog); glossopharyngeal nerve development (ortholog); locomotory behavior (ortholog); ASSOCIATED WITH atrial fibrillation (ortholog); genetic disease (ortholog); Hirschsprung's disease (ortholog); FOUND IN extracellular matrix (inferred); interstitial matrix (inferred); nucleoplasm (inferred) 11 11 11 21974896 22379610 + 19288369 20055758 + 19370095 20143255 + 22301074;30032202 100967989 A0A2R9AVM5;A0A2R9AVP5;A0A2R9AVU8;A0A2R9AZL6;A0A2R9B1S5;A0A2R9B1T7 MODEL JARIFH010000012;XM_003830461;XM_003830462;XM_008955910;XM_008955911;XM_008955912;XM_008955913;XM_008955914;XM_008955915;XM_034932287;XM_034932288;XM_055094235;XM_055094236;XM_057299122;XR_004665030;XR_008620161 XP_003830509;XP_008954159;XP_008954161;XP_054950210;XP_054950211;XP_057155105 A0A2R9AVU8 protein-coding ENSPPAG00000033637 11 19288598 20055758 + 11687716 FAM13A family with sequence similarity 13 member A INVOLVED IN signal transduction (inferred); ASSOCIATED WITH autosomal dominant polycystic kidney disease (ortholog); chronic obstructive pulmonary disease (ortholog); genetic disease (ortholog) 4 4 4 86989369 87376674 - 91737772 92120959 - 81015773 81400333 - 22301074 100968206 A0A2R8Z6E9;A0A2R8Z6F0 MODEL JARIFH010000005;XM_003811280;XM_008963666;XM_008963667;XM_008963668;XM_008963669;XM_008963670;XM_008963671;XM_008963673;XM_008963674;XM_008963675;XM_024928670;XM_034958912;XM_034958913;XM_055111622;XM_055111623 XP_003811328;XP_008961914;XP_008961915;XP_008961917;XP_008961918;XP_008961921;XP_008961922;XP_008961923;XP_024784438;XP_034814803;XP_034814804;XP_054967597;XP_054967598 A0A2R8Z6E9 protein-coding ENSPPAG00000001057 4 91739953 92067415 - 11687766 PPP2R2D protein phosphatase 2 regulatory subunit Bdelta ENCODES a protein that exhibits protein phosphatase regulator activity (inferred); ASSOCIATED WITH distal 10q deletion syndrome (ortholog); genetic disease (ortholog); FOUND IN protein phosphatase type 2A complex (inferred) 10 10 10 143859327 143921992 + 132794414 132846602 + 128602457 128663706 + 22301074;30032202 100968814 A0A2R8ZJJ0 MODEL JARIFH010000011;XM_008969334;XM_034931731 XP_034787622 A0A2R8ZJJ0 serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B delta isoform protein-coding ENSPPAG00000021368 11687792 NAP1L1 nucleosome assembly protein 1 like 1 ENCODES a protein that exhibits kinase binding (ortholog); INVOLVED IN cellular response to peptide hormone stimulus (ortholog); Schwann cell proliferation (ortholog); PARTICIPATES IN histone modification pathway; ASSOCIATED WITH appendiceal neoplasm (ortholog); Colorectal Neoplasms (ortholog); genetic disease (ortholog); FOUND IN cytoplasm (inferred); nucleus (inferred) 12 12 12 84063769 84102199 - 76402906 76441815 - 73549887 73589621 - 22301074;30032202 100969393 A0A2R9CHS5;A0A2R9CHS9;A0A2R9CHT4;A0A2R9CHV5;A0A2R9CHW0;A0A2R9CRA8 MODEL JARIFH010000013;XM_008958358;XM_008958359;XM_008958361;XM_034936251;XM_034936252;XM_034936253;XM_034936254;XM_034936255;XM_034936256;XM_055095921;XM_055095922 XP_008956607;XP_034792142;XP_034792143;XP_034792144;XP_034792145;XP_034792147;XP_054951896;XP_054951897 A0A2R9CHS9 nucleosome assembly protein 1-like 1 protein-coding ENSPPAG00000043344 12 76402906 76441815 - 11687820 LOC100969710 V-type proton ATPase subunit G 1-like 14 14 106213442 106213765 - 87189141 87189464 - 100969710 MODEL JARIFH010000015 V-type proton ATPase subunit G 1 pseudogene APPROVED pseudo 11687821 SPOP speckle type BTB/POZ protein ENCODES a protein that exhibits molecular function inhibitor activity (ortholog); RNA polymerase II-specific DNA-binding transcription factor binding (ortholog); INVOLVED IN glucose homeostasis (ortholog); intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (ortholog); negative regulation of transcription by RNA polymerase II (ortholog); PARTICIPATES IN Hedgehog signaling pathway; ASSOCIATED WITH colorectal cancer (ortholog); Ductal Carcinoma (ortholog); Endometrial Neoplasms (ortholog); FOUND IN Cul3-RING ubiquitin ligase complex (inferred); nuclear speck (inferred); nucleus (inferred) 17 17 17 70590547 70669645 - 48417634 48495725 - 43685913 43765277 - 30032202 100969753 A0A2R8ZSB6 MODEL JARIFH010000018;XM_003818042 XP_003818090 A0A2R8ZSB6 protein-coding ENSPPAG00000025621 17 48417634 48440623 - 11687839 USP19 ubiquitin specific peptidase 19 ENCODES a protein that exhibits K48-linked deubiquitinase activity (ortholog); ubiquitin protein ligase binding (ortholog); INVOLVED IN negative regulation of proteasomal protein catabolic process (ortholog); negative regulation of skeletal muscle tissue development (ortholog); positive regulation of cell cycle process (ortholog); ASSOCIATED WITH Aicardi-Goutieres Syndrome 1 (ortholog); Generalized Epilepsy (ortholog); genetic disease (ortholog); FOUND IN aminoacyl-tRNA synthetase multienzyme complex (inferred); cytoplasm (inferred); cytosol (inferred) 3 3 3 49091336 49104185 - 50112271 50125114 - 49032373 49045238 - 22301074 100969982 A0A2R9CET8;A0A2R9CF41;A0A2R9CHB0;A0A2R9CHY2;A0A2R9CHZ1;A0A2R9CPU1;A0A2R9CPW2 MODEL JARIFH010000004;XM_034956407;XM_034956409;XM_034956410;XM_034956412;XM_034956413;XM_034956415;XM_034956416;XM_034956417;XM_034956419;XM_034956421;XM_034956422;XM_034956423;XM_034956424;XM_034956426;XM_034956427;XM_034956428;XM_034956429;XM_034956430;XM_034956431;XM_034956432;XM_034956433;XM_034956434;XM_034956435;XM_034956437;XM_034956438;XM_034956439;XM_034956440;XM_034956441;XM_034956442;XM_034956443;XM_034956444;XM_034956445;XM_034956446;XM_034956448;XM_034956449;XM_055109892;XM_055109893;XM_055109894;XM_055109898;XM_055109899;XM_055109900;XM_055109901;XM_055109902;XM_055109905;XM_055109908;XM_055109909;XM_055109910;XM_055109911;XM_055109912;XM_055109913;XM_055109914;XM_055109915;XM_055109916;XM_055109917;XM_055109918;XM_055109919;XM_055109920;XM_055109921;XM_055109922;XM_057301755;XM_057301756;XM_057301757;XM_057301758;XM_057301759;XM_057301760;XM_057301761;XM_057301762;XM_057301763;XM_057301764;XM_057301765 XP_034812298;XP_034812300;XP_034812301;XP_034812303;XP_034812304;XP_034812306;XP_034812307;XP_034812308;XP_034812310;XP_034812312;XP_034812313;XP_034812317;XP_034812320;XP_034812326;XP_034812329;XP_054965867;XP_054965868;XP_054965869;XP_054965873;XP_054965874;XP_054965875;XP_054965876;XP_054965877;XP_054965880;XP_054965883;XP_054965884;XP_054965885;XP_054965886;XP_054965887;XP_054965888;XP_054965889;XP_054965890;XP_054965891;XP_054965892;XP_054965893;XP_054965894;XP_054965895;XP_054965896;XP_054965897;XP_057157738;XP_057157739;XP_057157740;XP_057157741;XP_057157742;XP_057157743;XP_057157744;XP_057157745;XP_057157746;XP_057157747;XP_057157748 A0A2R9CPW2 ubiquitin carboxyl-terminal hydrolase 19 protein-coding ENSPPAG00000042808 3 50100216 50125112 - 11687870 TRAF3IP1 TRAF3 interacting protein 1 ENCODES a protein that exhibits microtubule binding (inferred); INVOLVED IN cilium assembly (ortholog); defense response to virus (ortholog); embryonic camera-type eye development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Bethlem Myopathy 1 (ortholog); chromosome 2q37 deletion syndrome (ortholog); FOUND IN axoneme (ortholog); centrosome (ortholog); ciliary basal body (ortholog) 2B 2B 2B 140974690 141056604 + 244404777 244481785 + 125558537 125637733 + 30032202 100970291 A0A2R9B3A3;A0A2R9B5H9;A0A2R9B870 MODEL JARIFH010000003;XM_034955488;XM_034955489;XM_034955490;XM_034955492;XM_034955493;XM_034955494;XM_034955495;XM_055109270 XP_034811379;XP_034811381;XP_034811383;XP_034811384;XP_054965245 A0A2R9B5H9 TRAF3-interacting protein 1 protein-coding ENSPPAG00000034877 2B 244405992 244481785 + 11687902 PPM1A protein phosphatase, Mg2+/Mn2+ dependent 1A ENCODES a protein that exhibits phosphoprotein phosphatase activity (ortholog); transmembrane transporter binding (ortholog); INVOLVED IN cellular response to transforming growth factor beta stimulus (ortholog); negative regulation of BMP signaling pathway (ortholog); positive regulation of canonical NF-kappaB signal transduction (ortholog); PARTICIPATES IN Bone morphogenetic proteins signaling pathway; ASSOCIATED WITH genetic disease (ortholog); FOUND IN neuron projection (ortholog) 14 14 14 60599719 60650493 + 59117020 59169524 + 40853227 40906044 + 22301074;30032202 100970419 A0A2R9B5Q4;A0A2R9BCU8 MODEL JARIFH010000015;XM_003831639;XM_034937642;XM_034937643;XM_034937644 XP_003831687;XP_034793533;XP_034793534;XP_034793535 A0A2R9BCU8 protein-coding ENSPPAG00000035582 14 59117020 59162928 + 11687939 LOC100971010 phosphatidylinositol 4-kinase type 2-alpha-like 17 17 17 74429543 74432024 + 52393117 52394885 + 47524584 47527082 + 100971010 MODEL JARIFH010000018 pseudo 11687940 LOC100971944 BAF chromatin remodeling complex subunit BCL7C ASSOCIATED WITH branched-chain keto acid dehydrogenase kinase deficiency (ortholog); Ependymomas (ortholog); generalized epilepsy with febrile seizures plus 9 (ortholog); FOUND IN SWI/SNF complex (inferred) 16 16 16 38829941 38900859 - 31254073 31259885 - 24075296 24135637 + 100971944 A0A2R9BMF2;A0A2R9BQY5;A0A2R9BQZ2;A0A2R9BR10 MODEL JARIFH010000017;XM_003807514;XM_034940039;XM_034940040;XM_034940041;XM_034940042;XM_034940043;XM_034940044;XM_055099225;XM_055099226;XM_055099227;XM_055099228;XM_055099230;XM_055099231 XP_003807562;XP_034795931;XP_034795933;XP_034795935;XP_054955200;XP_054955201;XP_054955202;XP_054955203;XP_054955205;XP_054955206 A0A2R9BQY5 BCL7C B-cell CLL/lymphoma 7 protein family member C;BCL tumor suppressor 7C;BCL7C, BAF complex component APPROVED protein-coding ENSPPAG00000038358 16 31198675 31261837 - 11687950 BDKRB1 bradykinin receptor B1 ENCODES a protein that exhibits bradykinin receptor activity (ortholog); peptide binding (ortholog); INVOLVED IN cell migration (ortholog); cyclooxygenase pathway (ortholog); negative regulation of blood pressure (ortholog); PARTICIPATES IN G protein mediated signaling pathway via Galphai family; G protein mediated signaling pathway via Galphaq family; kallikrein-kinin cascade pathway; ASSOCIATED WITH acute myeloid leukemia (ortholog); Diabetes Complications (ortholog); diabetic angiopathy (ortholog); FOUND IN membrane (inferred); plasma membrane (inferred) 14 14 14 96629081 96641330 + 96208312 96221049 + 76885923 76894456 + 22301074;30032202 100972709 A0A2R8Z9J8 MODEL JARIFH010000015;XM_024925547;XM_034938083;XM_055097543;XM_055097544;XM_055097545 XP_034793974;XP_054953518;XP_054953519;XP_054953520 A0A2R8Z9J8 B1 bradykinin receptor protein-coding ENSPPAG00000007555 11687966 LOC100974355 cysteine and histidine-rich domain-containing protein 1-like 4 4 4 162880769 162885288 + 169021397 169025906 + 156969149 156973668 + 100974355 MODEL JARIFH010000005 pseudo 11687967 LOC100974587 thioredoxin domain-containing protein 9-like 4 4 4 73223591 73226332 + 73731456 73732125 + 67162030 67163667 + 30032202 100974587 A0A2R9CBS0 MODEL JARIFH010000005;XM_034958076 XP_034813967 A0A2R9CBS0 thioredoxin domain-containing protein 9 pseudogene APPROVED protein-coding ENSPPAG00000040689 11687968 TOP1MT DNA topoisomerase I mitochondrial ENCODES a protein that exhibits DNA binding (inferred); DNA topoisomerase activity (inferred); DNA topoisomerase type I (single strand cut, ATP-independent) activity (inferred); INVOLVED IN DNA topological change (inferred); ASSOCIATED WITH Brown-Vialetto-Van Laere syndrome 2 (ortholog); epidermolysis bullosa simplex with muscular dystrophy (ortholog); genetic disease (ortholog); FOUND IN mitochondrial nucleoid (ortholog); mitochondrion (ortholog); nucleoplasm (ortholog) 8 8 8 136303888 136354388 - 143077224 143125987 - 140056468 140106510 - 22301074;30032202 100974665 A0A2R9AZF9;A0A2R9B0T0;A0A2R9B3H0 MODEL JARIFH010000009;XM_003819457;XM_008972825;XM_008972826;XM_008972827;XM_008972829;XM_008972830;XM_034966766;XM_034966767;XM_055117058;XM_055117059;XM_055117061 XP_008971075;XP_008971078;XP_034822657;XP_034822658;XP_054973033;XP_054973034;XP_054973036 A0A2R9B3H0 DNA topoisomerase I, mitochondrial;topoisomerase (DNA) I, mitochondrial APPROVED protein-coding ENSPPAG00000034530 11688005 MVP major vault protein ENCODES a protein that exhibits identical protein binding (inferred); protein kinase binding (inferred); protein phosphatase binding (inferred); INVOLVED IN cell population proliferation (ortholog); protein activation cascade (ortholog); ASSOCIATED WITH 16p11.2 Deletion Syndrome (ortholog); autism spectrum disorder (ortholog); autistic disorder (ortholog); FOUND IN cytoplasm (inferred); cytoskeleton (inferred); cytosol (inferred) 16 16 35628134 35656003 - 30190929 30217971 + 30032202 100975053 A0A2R9BB37;A0A2R9BB39;A0A2R9BET3;A0A2R9BET8 MODEL JARIFH010000017;XM_003809367;XM_008961597;XM_024925809;XM_055099662 XP_003809415;XP_054955637 A0A2R9BB37 protein-coding ENSPPAG00000036492 16 30190090 30219070 + 11688027 SCT secretin ENCODES a protein that exhibits digestive hormone activity (ortholog); G protein-coupled receptor binding (ortholog); hormone activity (ortholog); INVOLVED IN dentate gyrus development (ortholog); diet induced thermogenesis (ortholog); embryonic digestive tract development (ortholog); ASSOCIATED WITH autistic disorder (ortholog); Chanarin-Dorfman syndrome (ortholog); choledochal cyst (ortholog); FOUND IN extracellular space (ortholog) 11 11 11 2221004 2222552 - 661461 662008 - 632073 634296 - 22301074;30032202 100975362 MODEL JARIFH010000012;XM_003806027 XP_003806075 protein-coding 11688033 LOC100975753 mitochondrial transcription rescue factor 1-like 21 21 21 22428915 22429669 + 31202288 31203042 + 17818774 17819883 + 100975753 MODEL JARIFH010000022 uncharacterized protein C6orf203 pseudogene APPROVED pseudo 11688034 LOC100975844 40S ribosomal protein S4, X isoform-like 12 12 12 95987410 95993359 + 88798214 88804163 + 85492400 85498349 + 100975844 MODEL JARIFH010000013 pseudo 11688035 VOPP1 VOPP1 WW domain binding protein ENCODES a protein that exhibits enzyme binding (inferred); ASSOCIATED WITH acute myeloid leukemia (ortholog); autistic disorder (ortholog); Experimental Liver Cirrhosis (ortholog); FOUND IN cytoplasmic vesicle membrane (inferred); endosome (inferred); endosome membrane (inferred) 7 7 7 108625620 108727401 - 56372027 56422495 - 56061704 56163517 - 22301074;30032202 100975889 A0A2R8ZHD4;A0A2R8ZI14;A0A2R8ZI19;A0A2R8ZKI6;A0A2R8ZNM4;A0A2R8ZNM9 MODEL JARIFH010000008;XM_034964130;XM_034964131;XM_034964132;XM_034964133;XM_034964134;XM_034964135;XM_034964136;XM_034964137;XM_034964138;XM_034964139;XM_055115964;XM_055115965;XM_055115966;XM_055115967;XM_057302879;XM_057302880 XP_034820021;XP_034820022;XP_034820024;XP_034820025;XP_034820026;XP_034820027;XP_034820028;XP_054971939;XP_054971940;XP_054971941;XP_054971942;XP_057158862;XP_057158863 A0A2R8ZNM4 VOPP1, WBP1/VOPP1 family member;vesicular, overexpressed in cancer, prosurvival protein 1 APPROVED protein-coding ENSPPAG00000018463 7 56372027 56463310 - 11688054 ZNF710 zinc finger protein 710 ASSOCIATED WITH Bloom syndrome (ortholog); colorectal cancer (ortholog); D-2-hydroxyglutaric aciduria 2 (ortholog) 15 15 15 83246788 83328780 + 87891884 87971119 + 68688203 68770188 + 100978921 A0A2R9CHT2 MODEL JARIFH010000016;XM_008973897;XM_008973898;XM_024925595;XM_034939419;XM_055098863 XP_008972145;XP_024781363;XP_034795310;XP_054954838 A0A2R9CHT2 protein-coding ENSPPAG00000043381 15 87956415 87971119 + 11688086 LOC100981767 60 kDa heat shock protein, mitochondrial-like 5 5 5 89300822 89307203 - 96772419 96773599 - 91214167 91215347 - 100981767 MODEL JARIFH010000006 60 kDa heat shock protein, mitochondrial pseudogene APPROVED pseudo 11688087 FAM47A family with sequence similarity 47 member A ASSOCIATED WITH autistic disorder (ortholog); genetic disease (ortholog); intellectual disability (ortholog) X X X 35963474 35970775 - 34300250 34302333 - 26764406 26767087 - 100982098 A0A2R9AUF8 MODEL JARIFH010000024;XM_034949488;XM_034949489 XP_034805379 A0A2R9AUF8 protein-coding ENSPPAG00000032895 11688093 PRDM6 PR/SET domain 6 ENCODES a protein that exhibits histone methyltransferase activity (inferred); identical protein binding (inferred); methyltransferase activity (inferred); INVOLVED IN negative regulation of DNA-templated transcription (ortholog); negative regulation of smooth muscle cell differentiation (ortholog); negative regulation of transcription by RNA polymerase II (ortholog); PARTICIPATES IN histone modification pathway; ASSOCIATED WITH congenital heart disease (ortholog); Congenital Lower Urinary Tract Obstruction (ortholog); familial adenomatous polyposis 1 (ortholog); FOUND IN nucleus (inferred) 5 5 5 116530191 116635440 + 124261397 124358725 + 118481141 118580190 + 22301074;30032202 100982491 A0A2R9CBF3 MODEL JARIFH010000006;XM_034960414 XP_034816305 A0A2R9CBF3 putative histone-lysine N-methyltransferase PRDM6 protein-coding ENSPPAG00000041868 11688103 SWAP70 switching B cell complex subunit SWAP70 ENCODES a protein that exhibits ATP binding (inferred); calcium ion binding (inferred); DNA binding (inferred); INVOLVED IN isotype switching (ortholog); somatic cell DNA recombination (ortholog); ASSOCIATED WITH genetic disease (ortholog); FOUND IN actin cytoskeleton (inferred); cytoplasm (inferred); nucleus (inferred) 11 11 11 12064725 12151073 + 9526752 9614422 + 9797024 9883400 + 22301074;30032202 100983644 A0A2R8Z5N5;A0A2R8Z9E2;A0A2R8ZBM3 MODEL JARIFH010000012;XM_003818145;XM_003818146 XP_003818193;XP_003818194 A0A2R8Z9E2 SWAP switching B-cell complex 70kDa subunit;SWAP switching B-cell complex subunit 70;switch-associated protein 70;switching B-cell complex subunit SWAP70 APPROVED protein-coding ENSPPAG00000000045 11 9526752 9614422 + 11688120 RPL8 ribosomal protein L8 ENCODES a protein that exhibits 5.8S rRNA binding (ortholog); INVOLVED IN cellular response to nerve growth factor stimulus (ortholog); PARTICIPATES IN ribosome biogenesis pathway; translation pathway; ASSOCIATED WITH genetic disease (ortholog); FOUND IN cytoplasm (ortholog); cytosolic large ribosomal subunit (ortholog); cytosolic ribosome (ortholog) 8 8 8 137819508 137822247 - 144543354 144546044 - 141562162 141564885 - 22301074;30032202 100984223 A0A2R9C616;A0A2R9C621;A0A2R9C8R8 MODEL JARIFH010000009;XM_003819396;XM_003819397;XM_024929827 XP_003819444;XP_003819445 A0A2R9C8R8 60S ribosomal protein L8 protein-coding ENSPPAG00000041407 8 144543354 144545974 - 11688133 TMC7 transmembrane channel like 7 INVOLVED IN monoatomic ion transmembrane transport (inferred); ASSOCIATED WITH genetic disease (ortholog); FOUND IN membrane (inferred); plasma membrane (inferred) 16 16 16 24770476 24849511 + 19092150 19168041 + 19245759 19325113 - 30032202 100985305 A0A2R8ZJY1;A0A2R8ZKV6 MODEL JARIFH010000017;XM_034939959;XM_034939960;XM_034939961;XM_034939962;XM_034939963;XM_034939964;XM_034939966;XM_055100225;XM_055100226 XP_034795850;XP_034795851;XP_034795852;XP_034795853;XP_054956200;XP_054956201 A0A2R8ZJY1 transmembrane channel-like protein 7 protein-coding ENSPPAG00000021875 16 19092280 19166704 + 11688153 ASB16 ankyrin repeat and SOCS box containing 16 INVOLVED IN intracellular signal transduction (inferred); protein ubiquitination (inferred); ASSOCIATED WITH genetic disease (ortholog); GRN-related frontotemporal lobar degeneration with TDP43 inclusions (ortholog) 17 17 17 22692645 22708427 - 13380166 13388638 - 13216586 13226101 - 22301074 100985807 A0A2R9ARQ9 MODEL JARIFH010000018;XM_003805862 XP_003805910 A0A2R9ARQ9 ankyrin repeat and SOCS box protein 16 protein-coding ENSPPAG00000032367 17 13380166 13388638 - 11688162 LOC100985902 nuclear RNA export factor 2-like X X X 102175942 102185732 + 102157152 102179936 + 91789883 91799673 + 22301074;30032202 100985902 MODEL JARIFH010000024;XM_034950312 XP_034806203 protein-coding 11688188 STX1B syntaxin 1B ENCODES a protein that exhibits protein domain specific binding (ortholog); INVOLVED IN exocytic insertion of neurotransmitter receptor to postsynaptic membrane (ortholog); protein localization to membrane (ortholog); regulation of exocytosis (ortholog); ASSOCIATED WITH branched-chain keto acid dehydrogenase kinase deficiency (ortholog); Duchenne muscular dystrophy (ortholog); epilepsy (ortholog); FOUND IN centrosome (ortholog); cytoplasm (ortholog); neuromuscular junction (ortholog) 16 16 16 38996671 39019969 - 31356907 31378864 - 23956426 23979646 + 22301074;30032202 100986144 A0A2R9C7T7;A0A2R9C7V1;A0A2R9C857 MODEL JARIFH010000017;XM_008959626 XP_008957874 A0A2R9C857 syntaxin-1B protein-coding ENSPPAG00000041683 16 31356907 31378870 - 11688202 ALKBH2 alkB homolog 2, alpha-ketoglutarate dependent dioxygenase ENCODES a protein that exhibits endonuclease activity (ortholog); exonuclease activity (ortholog); INVOLVED IN DNA dealkylation involved in DNA repair (inferred); DNA repair (inferred); ASSOCIATED WITH genetic disease (ortholog); FOUND IN nucleolus (inferred); nucleoplasm (inferred); nucleus (inferred) 12 12 12 117150371 117156460 - 110058507 110068225 - 106664678 106670558 - 30032202 100986873 A0A2R9AWA1;A0A2R9AWD5 MODEL JARIFH010000013;XM_003832511;XM_003832512;XM_008957941;XM_008957943;XM_008957944;XM_008957945;XM_057299522 XP_003832559;XP_003832560;XP_008956189;XP_008956191;XP_008956192;XP_057155505 A0A2R9AWD5 DNA oxidative demethylase ALKBH2;alkB, alkylation repair homolog 2;alpha-ketoglutarate-dependent dioxygenase alkB homolog 2 protein-coding ENSPPAG00000033974 12 110058507 110063946 - 11688228 MYG1 MYG1 exonuclease INVOLVED IN locomotory exploration behavior (ortholog); ASSOCIATED WITH triple-A syndrome (ortholog); FOUND IN mitochondrion (inferred); nucleoplasm (inferred); nucleus (inferred) 12 12 12 40875743 40882962 - 36228165 36235474 - 35447248 35454454 - 30032202 100987198 A0A2R9C926;A0A2R9CGW6 MODEL JARIFH010000013;XM_003831021 XP_003831069 A0A2R9C926 C12H12orf10 UPF0160 protein MYG1, mitochondrial;UPF0160 protein MYG1, mitochondrial-like;chromosome 12 C12orf10 homolog;chromosome 12 open reading frame, human C12orf10 APPROVED protein-coding ENSPPAG00000041478 12 36228165 36235474 - 11688239 CCDC190 coiled-coil domain containing 190 ASSOCIATED WITH gastrointestinal stromal tumor (ortholog); genetic disease (ortholog); parathyroid carcinoma (ortholog) 1 1 1 86591695 86599112 + 142065007 142071967 - 138267683 138301945 - 100987390 A0A2R9C7Y5;A0A2R9C891 MODEL JARIFH010000001;XM_008978243;XM_034939354;XM_034939356;XM_034939370;XM_055112207 XP_008976491;XP_054968182 A0A2R9C891 coiled-coil domain-containing protein 190;coiled-coil domain-containing protein C1orf110 homolog;coiled-coil domain-containing protein C1orf110-like protein-coding ENSPPAG00000041751 1 142064026 142070544 - 11688247 CRELD1 cysteine rich with EGF like domains 1 ASSOCIATED WITH Atrioventricular Septal Defect 2 (ortholog); Candidiasis, Familial, 9 (ortholog); Congenital Heart Defects, Multiple Types, 4 (ortholog) 3 3 3 9942600 9954112 + 10226983 10238210 + 9878265 9889826 + 22301074 100988402 MODEL JARIFH010000004;XM_034955747;XM_034955749;XM_034955750 XP_034811638;XP_034811640 LOC100970689 cysteine-rich with EGF-like domain protein 1;uncharacterized LOC100970689 PROVISIONAL protein-coding 11688260 PGR progesterone receptor ENCODES a protein that exhibits ATPase binding (ortholog); DNA-binding transcription activator activity, RNA polymerase II-specific (ortholog); enzyme binding (ortholog); INVOLVED IN cellular response to estrogen stimulus (ortholog); cellular response to follicle-stimulating hormone stimulus (ortholog); cellular response to gonadotropin stimulus (ortholog); PARTICIPATES IN phosphatidylinositol 3-kinase-Akt signaling pathway; ASSOCIATED WITH adenocarcinoma (ortholog); Animal Mammary Neoplasms (ortholog); ataxia telangiectasia (ortholog); FOUND IN axon (ortholog); axon terminus (ortholog); dendrite (ortholog) 11 11 11 102925904 103028120 - 99508571 99598020 - 95997677 96098866 - 22301074 100989324 A1YGB2;A1YGB3;A7X8B5 MODEL DQ234981;DQ977252;EF653841;JARIFH010000012;XM_034933585;XM_055094779 A7X8B5;ABB72141;ABM54337;ABM54338;XP_034789476;XP_054950754 A7X8B5 NR3C3;PR Nuclear receptor subfamily 3 group C member 3 protein-coding 11688272 LOC100989652 NKG2-E type II integral membrane protein-like 6 6 6 91846821 91847857 - 75049071 75049573 - 71767575 71768035 - 100989652 MODEL JARIFH010000007 NKG2-E type II integral membrane protein pseudogene APPROVED pseudo 11688273 LOC100990013 replication protein A 32 kDa subunit-like 11 11 11 102244598 102256089 + 98829482 98830304 + 95317663 95319659 + 100990013 MODEL JARIFH010000012 replication protein A 32 kDa subunit pseudogene APPROVED pseudo 11688278 OXA1L OXA1L mitochondrial inner membrane protein ENCODES a protein that exhibits mitochondrial ribosome binding (ortholog); protein homodimerization activity (ortholog); INVOLVED IN aerobic respiration (ortholog); mitochondrial proton-transporting ATP synthase complex assembly (ortholog); mitochondrial respiratory chain complex I assembly (ortholog); PARTICIPATES IN mitochondrial protein import pathway; ASSOCIATED WITH Brain-Lung-Thyroid Syndrome (ortholog); genetic disease (ortholog); lysinuric protein intolerance (ortholog); FOUND IN mitochondrial membrane (ortholog); protein-containing complex (ortholog) 14 14 14 23412869 23418009 + 21683984 21689101 + 3584220 3589360 + 30032202 100991546 A0A2R9AX51;A0A2R9AX62;A0A2R9B0Z0;A0A2R9B2W5 MODEL JARIFH010000015;XM_003808128 XP_003808176 A0A2R9AX51 mitochondrial inner membrane protein OXA1L APPROVED protein-coding ENSPPAG00000034085 14 21683983 21689101 + 11688292 PHOX2A paired like homeobox 2A ENCODES a protein that exhibits DNA-binding transcription activator activity, RNA polymerase II-specific (ortholog); RNA polymerase II cis-regulatory region sequence-specific DNA binding (ortholog); RNA polymerase II transcription regulatory region sequence-specific DNA binding (ortholog); INVOLVED IN locus ceruleus development (ortholog); midbrain development (ortholog); noradrenergic neuron differentiation (ortholog); ASSOCIATED WITH 3-methylglutaconic aciduria type 7b (ortholog); cerebral folate receptor alpha deficiency (ortholog); congenital fibrosis of the extraocular muscles 2 (ortholog); FOUND IN chromatin (ortholog); nucleus (ortholog) 11 11 11 74229581 74234688 - 70542242 70546305 - 67317747 67322850 - 22301074;30032202 100992408 MODEL JARIFH010000012;XM_024930810 XP_024786578 paired mesoderm homeobox protein 2A APPROVED protein-coding 11688298 MTCL1 microtubule crosslinking factor 1 ENCODES a protein that exhibits microtubule binding (ortholog); INVOLVED IN chromosome segregation (ortholog); establishment or maintenance of epithelial cell apical/basal polarity (ortholog); microtubule bundle formation (ortholog); ASSOCIATED WITH autosomal dominant cerebellar ataxia (ortholog); cerebellar ataxia (ortholog); chromosome 18p deletion syndrome (ortholog); FOUND IN apicolateral plasma membrane (ortholog); cytoskeleton (ortholog); kinetochore (ortholog) 18 18 18 15313886 15439578 - 7734076 7906953 - 5454320 5580020 - 22301074;30032202 100992940 A0A2R9B3J0;A0A2R9B3J5;A0A2R9B8F5 MODEL JARIFH010000019;XM_008961559;XM_024926314;XM_024926316;XM_024926317;XM_034943593;XM_034943594;XM_034943595;XM_034943596;XM_034943597 XP_008959807;XP_024782082;XP_024782084;XP_024782085;XP_034799484;XP_034799485;XP_034799486;XP_034799487;XP_034799488 A0A2R9B8F5 SOGA2 SOGA family member 2;microtubule cross-linking factor 1 protein-coding ENSPPAG00000034933 18 7737903 7906958 - 11688325 SNTA1 syntrophin alpha 1 ENCODES a protein that exhibits PDZ domain binding (ortholog); INVOLVED IN neuromuscular junction development (ortholog); regulation of vasoconstriction by circulating norepinephrine (ortholog); PARTICIPATES IN acebutolol pharmacodynamics pathway; adrenergic beta receptor agonist and beta-blocker pharmacodynamics pathway; amiodarone pharmacodynamics pathway; ASSOCIATED WITH atrial fibrillation (ortholog); Becker muscular dystrophy (ortholog); Brugada syndrome (ortholog); FOUND IN neuromuscular junction (ortholog); sarcolemma (ortholog) 20 20 20 39092798 39128921 - 30810787 30844472 - 29696137 29732258 - 22301074;30032202 100993916 A0A2R9A3K5 MODEL JARIFH010000021;XM_008967477;XM_034946923;XM_034946925;XM_034946926 XP_008965725;XP_034802814;XP_034802816;XP_034802817 A0A2R9A3K5 alpha-1-syntrophin protein-coding ENSPPAG00000029137 20 30810787 30844476 - 11688337 TNFAIP6 TNF alpha induced protein 6 ENCODES a protein that exhibits calcium ion binding (inferred); carboxylesterase activity (inferred); fibronectin binding (inferred); INVOLVED IN positive regulation of cell migration (ortholog); ASSOCIATED WITH Acute Lung Injury (ortholog); allergic contact dermatitis (ortholog); Arsenic Poisoning (ortholog); FOUND IN extracellular space (ortholog) 2B 2B 2B 54062655 54085417 + 155933842 155956382 + 38669652 38692037 + 22301074;30032202 100994633 A0A2R9ACW6 MODEL JARIFH010000003;XM_003818305 XP_003818353 A0A2R9ACW6 protein-coding ENSPPAG00000029874 2B 155933842 155956382 + 11688347 LOC103782875 uncharacterized LOC103782875 15 15 15 25692543 25739550 - 29692671 29699876 - 10651688 10659585 - 103782875 MODEL JARIFH010000016;XR_004666446;XR_008621057;XR_608380 ncrna 11688373 LOC103787092 uncharacterized LOC103787092 1 1 1 18591902 18597526 + 211377962 211383876 - 206350779 206356511 - 103787092 MODEL JARIFH010000001;XR_004668586;XR_004668587;XR_004668588;XR_004668590;XR_008622054 ncrna 11688393 MSMB microseminoprotein beta ASSOCIATED WITH genetic disease (ortholog); megacolon (ortholog); prostate cancer (ortholog); FOUND IN extracellular region (inferred) 10 10 10 58917516 58930510 - 46449077 46462065 - 43187155 43200150 - 130540531 A0A2R9AET7;Q3I206 MODEL DQ150462;JARIFH010000011;XM_003811813;XM_008964195;XM_057298872;XM_057298873 AAZ82232;XP_057154855;XP_057154856 A0A2R9AET7 beta-microseminoprotein protein-coding ENSPPAG00000030880 10 46449079 46464007 - 11688404 ZMYM5 zinc finger MYM-type containing 5 ENCODES a protein that exhibits zinc ion binding (inferred); INVOLVED IN negative regulation of transcription by RNA polymerase II (inferred); ASSOCIATED WITH genetic disease (ortholog); polycystic ovary syndrome (ortholog) 13 13 13 10532352 10603183 - 19462920 19501541 - 1147873 1187375 - 22301074 100968121 A0A2R9B1H0;A0A2R9B370;A0A2R9B5G3 MODEL JARIFH010000014;XM_003833000;XM_008958492;XM_008958493;XM_008958494;XM_008958495;XM_034936386;XM_034936387;XM_034936388;XM_055097130;XR_004665815 XP_003833048;XP_008956741;XP_008956742;XP_008956743;XP_034792277;XP_034792278;XP_034792279;XP_054953105 A0A2R9B370 zinc finger MYM-type protein 5 protein-coding ENSPPAG00000034895 13 19462306 19501541 - 11688434 PDZD8 PDZ domain containing 8 ENCODES a protein that exhibits lipid binding (inferred); metal ion binding (inferred); INVOLVED IN cytoskeleton organization (inferred); lipid transport (inferred); mitochondrial calcium ion homeostasis (inferred); ASSOCIATED WITH genetic disease (ortholog); Intellectual Developmental Disorder with Autism and Dysmorphic Facies (ortholog); FOUND IN endoplasmic reticulum membrane (inferred); mitochondria-associated endoplasmic reticulum membrane (inferred); mitochondrion (inferred) 10 10 10 129158120 129251103 - 117288123 117385317 - 113862457 113958281 - 22301074;30032202 100968304 A0A2R9CGL1 MODEL JARIFH010000011;XM_003825632;XM_008950963 XP_003825680;XP_008949211 A0A2R9CGL1 PDZ domain-containing protein 8 protein-coding ENSPPAG00000043171 10 117293877 117385317 - 11688448 LACTB lactamase beta ENCODES a protein that exhibits identical protein binding (ortholog); INVOLVED IN proteolysis (inferred); regulation of lipid metabolic process (inferred); ASSOCIATED WITH Bloom syndrome (ortholog); colorectal cancer (ortholog); genetic disease (ortholog); FOUND IN cytosol (inferred); mitochondrion (inferred) 15 15 15 56546640 56566900 + 60365427 60385185 + 42069069 42089329 + 100968558 A0A2R9AV12 MODEL JARIFH010000016;XM_003827934;XM_034938891;XR_004666537;XR_004666538 XP_003827982 A0A2R9AV12 serine beta-lactamase-like protein LACTB, mitochondrial protein-coding ENSPPAG00000032543 15 60365427 60385179 + 11688461 TMPRSS11A transmembrane serine protease 11A ENCODES a protein that exhibits hydrolase activity (inferred); peptidase activity (inferred); serine-type endopeptidase activity (inferred); INVOLVED IN proteolysis (inferred); ASSOCIATED WITH genetic disease (ortholog); FOUND IN extracellular region (inferred); membrane (inferred); plasma membrane (inferred) 4 4 4 62158564 62194333 + 62481403 62533929 + 56087123 56139951 + 22301074 100968936 A0A2R9C075;A0A2R9CAE2 MODEL JARIFH010000005;XM_003815813;XM_034958716;XM_055111484 XP_054967459 A0A2R9C075 transmembrane protease serine 11A;transmembrane protease, serine 11A APPROVED protein-coding ENSPPAG00000040487 4 62481403 62533929 + 11688477 KRTDAP keratinocyte differentiation associated protein INVOLVED IN epidermis development (ortholog); ASSOCIATED WITH Brugada syndrome 5 (ortholog); dystonia (ortholog); genetic disease (ortholog); FOUND IN extracellular region (inferred); extracellular space (inferred); lamellar body (inferred) 19 19 19 43433487 43491758 - 41170227 41173441 - 32434016 32437611 - 22301074;30032202 100970078 A0A2R8ZXV1;A0A2R9A2B1 MODEL JARIFH010000020;XM_003816153;XM_003816154;XR_008955034 XP_003816201 A0A2R8ZXV1 protein-coding ENSPPAG00000027931 19 41170227 41173441 - 11688488 PITX3 paired like homeodomain 3 ENCODES a protein that exhibits DNA-binding transcription factor activity (ortholog); sequence-specific double-stranded DNA binding (ortholog); INVOLVED IN cellular response to glial cell derived neurotrophic factor (ortholog); locomotory behavior (ortholog); midbrain development (ortholog); ASSOCIATED WITH anterior segment dysgenesis (ortholog); anterior segment dysgenesis 1 (ortholog); Aphakia (ortholog); FOUND IN chromatin (ortholog) 10 10 10 114122647 114138234 - 102301528 102302943 - 98833330 98846292 - 22301074;30032202 100970266 A0A2R8ZGP3 MODEL JARIFH010000011;XM_024930485;XM_034931372 XP_024786253 A0A2R8ZGP3 pituitary homeobox 3 protein-coding ENSPPAG00000008353 11688496 NT5DC4 5'-nucleotidase domain containing 4 ENCODES a protein that exhibits hydrolase activity (inferred); metal ion binding (inferred); ASSOCIATED WITH Filippi syndrome (ortholog); genetic disease (ortholog) 2A 2A 2A 15394727 15407309 - 113732767 113754066 + 89315647 89336907 - 30032202 100970454 A0A2R9CCF5 MODEL JARIFH010000002;XM_008960489;XM_055107405 XP_054963380 A0A2R9CCF5 5'-nucleotidase domain-containing protein 4 protein-coding ENSPPAG00000042503 2A 113732812 113753637 + 11688517 EID2B EP300 interacting inhibitor of differentiation 2B ENCODES a protein that exhibits identical protein binding (inferred); INVOLVED IN negative regulation of DNA-templated transcription (inferred); negative regulation of myoblast differentiation (inferred); ASSOCIATED WITH Carpenter Syndrome 2 (ortholog); congenital hypoplastic anemia (ortholog); craniosynostosis (ortholog); FOUND IN nucleus (inferred) 19 19 19 47694559 47699595 - 45177751 45179081 - 36629480 36631665 - 30032202 100971197 A0A2R8ZJ03 MODEL JARIFH010000020;XM_003812230 XP_003812278 A0A2R8ZJ03 EP300-interacting inhibitor of differentiation 2B protein-coding ENSPPAG00000011580 19 45178537 45179022 - 11688522 CCDC9B coiled-coil domain containing 9B ASSOCIATED WITH Bloom syndrome (ortholog); colorectal cancer (ortholog) 15 15 15 33716865 33726375 - 37520475 37529968 - 19265502 19275023 - 100971630 A0A2R9C0N8;A0A2R9C0R5;A0A2R9C0S1 MODEL JARIFH010000016;XM_003826570;XM_008951968;XM_034938524;XM_034938525;XM_055098620;XM_055098621 XP_003826618;XP_034794415;XP_034794416;XP_054954595;XP_054954596 A0A2R9C0N8 C15H15orf52 chromosome 15 open reading frame, human C15orf52;coiled-coil domain-containing protein 9B;uncharacterized protein C15orf52 homolog APPROVED protein-coding ENSPPAG00000040552 15 37520475 37529968 - 11688541 DNASE2B deoxyribonuclease 2 beta ENCODES a protein that exhibits deoxyribonuclease II activity (ortholog); INVOLVED IN DNA metabolic process (ortholog); ASSOCIATED WITH cataract (ortholog); genetic disease (ortholog); FOUND IN cytoplasm (inferred); extracellular region (inferred) 1 1 1 141681918 141698823 - 85807300 85824257 + 116946513 116963483 + 22301074;30032202 100971929 A0A2R9AF39 MODEL JARIFH010000001;XM_003805278;XM_034934077 XP_003805326 A0A2R9AF39 deoxyribonuclease-2-beta protein-coding ENSPPAG00000031087 1 85807300 85824257 + 11688551 HINT1 histidine triad nucleotide binding protein 1 ENCODES a protein that exhibits adenosine 5'-monophosphoramidase activity (inferred); catalytic activity (inferred); deSUMOylase activity (inferred); INVOLVED IN positive regulation of calcium-mediated signaling (ortholog); protein desumoylation (ortholog); ASSOCIATED WITH axonal neuropathy (ortholog); Charcot-Marie-Tooth disease (ortholog); familial adenomatous polyposis 1 (ortholog); FOUND IN cytoplasm (inferred); cytosol (inferred); histone deacetylase complex (inferred) 5 5 5 124622692 124628778 - 132755766 132761823 - 126587934 126594032 - 30032202 100972120 A0A2R9BUQ1;A0A2R9BUQ2;A0A2R9BVB5 MODEL JARIFH010000006;XM_003829332 XP_003829380 A0A2R9BUQ1 adenosine 5'-monophosphoramidase HINT1;histidine triad nucleotide-binding protein 1 protein-coding ENSPPAG00000039560 5 132755766 132761823 - 11688558 MROH8 maestro heat like repeat family member 8 ASSOCIATED WITH Aicardi-Goutieres Syndrome 5 (ortholog); congenital disorder of glycosylation (ortholog); focal epilepsy (ortholog) 20 20 20 42820859 42900468 - 34539392 34617182 - 33424051 33501927 - 30032202 100973283 A0A2R9B8S9;A0A2R9BA87;A0A2R9BCH7 MODEL JARIFH010000021;XM_003831905;XM_008957287;XM_034947622;XM_034947623;XM_034947624;XM_034947625;XM_034947626;XM_055104839;XM_055104840;XM_055104841 XP_003831953;XP_008955535;XP_034803514;XP_034803515;XP_034803516;XP_054960814;XP_054960815;XP_054960816 A0A2R9B8S9 HEAT repeat-containing protein 8-like protein-coding ENSPPAG00000036111 20 34539392 34617182 - 11688589 OS9 OS9 endoplasmic reticulum lectin ENCODES a protein that exhibits protease binding (ortholog); INVOLVED IN protein targeting (ortholog); PARTICIPATES IN hypoxia inducible factor pathway; ASSOCIATED WITH familial melanoma (ortholog); genetic disease (ortholog); FOUND IN endoplasmic reticulum (inferred); endoplasmic reticulum lumen (inferred) 12 12 12 36616212 36643728 - 31465836 31493076 - 31205239 31232769 - 30032202 100974599 A0A2R8ZRN8;A0A2R8ZRP8;A0A2R8ZRQ2;A0A2R8ZTN2;A0A2R8ZWD1;A0A2R8ZWD6 MODEL JARIFH010000013;XM_003824833;XM_003824834;XM_008978474;XM_008978476 XP_003824881;XP_003824882;XP_008976722;XP_008976724 A0A2R8ZRQ2 OS9, endoplasmic reticulum lectin APPROVED protein-coding ENSPPAG00000026298 12 31463716 31493076 - 11688619 YBEY ybeY metalloendoribonuclease ENCODES a protein that exhibits endonuclease activity (inferred); hydrolase activity (inferred); metal ion binding (inferred); INVOLVED IN rRNA processing (inferred); ASSOCIATED WITH autistic disorder (ortholog); Axenfeld-Rieger syndrome type 3 (ortholog); cataract 9 multiple types (ortholog); FOUND IN nucleus (inferred) 21 21 21 37257967 37268543 + 45879517 45888717 + 32628599 32638914 + 22301074;30032202 100975475 A0A2R9AKQ5;A0A2R9AKR2 MODEL JARIFH010000022;XM_003823800;XM_008977501;XM_008977502;XM_034948062;XR_008622377;XR_008622378 XP_003823848;XP_008975749;XP_034803953 A0A2R9AKQ5 endoribonuclease YbeY;putative ribonuclease;rRNA maturation factor homolog;ybeY metallopeptidase (putative) APPROVED protein-coding ENSPPAG00000030933 21 45879824 45888717 + 11688636 LOC100977193 chondroitin sulfate N-acetylgalactosaminyltransferase 2-like X X X 100542401 100560601 + 100291439 100298529 + 90153053 90160237 + 100977193 MODEL JARIFH010000024 chondroitin sulfate N-acetylgalactosaminyltransferase 2 pseudogene APPROVED pseudo 11688637 LOC100977460 heterogeneous nuclear ribonucleoprotein A3-like 1 1 1 144640098 144641361 - 82758510 82759773 + 80626670 80628009 + 100977460 MODEL JARIFH010000001 heterogeneous nuclear ribonucleoprotein A3 pseudogene APPROVED pseudo 11688638 MARK3 microtubule affinity regulating kinase 3 ENCODES a protein that exhibits ATP binding (inferred); nucleotide binding (inferred); protein kinase activity (inferred); INVOLVED IN negative regulation of hippo signaling (inferred); negative regulation of protein localization to nucleus (inferred); ASSOCIATED WITH Charcot-Marie-Tooth disease axonal type 2O (ortholog); genetic disease (ortholog); Mitochondrial Complex IV Deficiency, Nuclear Type 17 (ortholog); FOUND IN cell projection (inferred); cytoplasm (inferred); dendrite (inferred) 14 14 14 103761598 103879656 + 103823900 103941529 + 84012076 84130136 + 22301074;30032202 100977729 A0A2R9AEA1;A0A2R9AEC4;A0A2R9AED1;A0A2R9AJ56;A0A2R9AJ64;A0A2R9AKV3 MODEL JARIFH010000015;XM_003807019;XM_003807020;XM_003807021;XM_003807022;XM_008959080;XM_008959081;XM_008959082;XM_008959083;XM_008959085;XM_008959086;XM_008959087;XM_008959089;XM_034938223;XM_034938224;XM_055098051;XM_057299797 XP_003807067;XP_003807068;XP_003807069;XP_003807070;XP_008957328;XP_008957329;XP_008957330;XP_008957331;XP_008957333;XP_008957334;XP_008957335;XP_008957337;XP_034794114;XP_034794115;XP_054954026;XP_057155780 A0A2R9AJ64 MAP/microtubule affinity-regulating kinase 3 protein-coding ENSPPAG00000030786 14 103823900 103941529 + 11688677 RNF185 ring finger protein 185 ENCODES a protein that exhibits metal ion binding (inferred); protein-containing complex binding (inferred); transferase activity (inferred); INVOLVED IN defense response to virus (inferred); ERAD pathway (inferred); positive regulation of ERAD pathway (inferred); ASSOCIATED WITH genetic disease (ortholog); FOUND IN endoplasmic reticulum (inferred); endoplasmic reticulum membrane (inferred); membrane (inferred) 22 22 22 43813920 43860689 + 30020353 30066266 + 12183591 12230371 + 22301074;30032202 100979202 A0A2R9C7A1;A0A2R9CA07;A0A2R9CA28;A0A2R9CHX1 MODEL JARIFH010000023;XM_003826928;XM_008952280;XM_034948318;XM_034948319;XM_055105776;XM_055105777;XM_055105778;XR_001337629 XP_003826976;XP_034804209;XP_054961751;XP_054961752;XP_054961753 A0A2R9CA07 E3 ubiquitin-protein ligase RNF185 protein-coding ENSPPAG00000041622 22 30020353 30066266 + 11688697 DCAKD dephospho-CoA kinase domain containing ENCODES a protein that exhibits ATP binding (inferred); dephospho-CoA kinase activity (inferred); INVOLVED IN coenzyme A biosynthetic process (inferred); ASSOCIATED WITH genetic disease (ortholog); FOUND IN membrane (inferred) 17 17 17 21745047 21778233 + 12440176 12473099 + 12266199 12299502 + 22301074;30032202 100979975 A0A2R9CD09 MODEL JARIFH010000018;XM_003806519;XM_003806520;XM_008954702;XM_034941666;XM_055101779;XM_055101780;XM_055101781;XM_055101782;XM_057300321 XP_003806567;XP_003806568;XP_034797557;XP_054957754;XP_054957755;XP_054957756;XP_054957757;XP_057156304 A0A2R9CD09 protein-coding ENSPPAG00000042158 17 12440194 12473099 + 11688712 LOC100980370 peptidyl-prolyl cis-trans isomerase A-like 17 17 17 84450024 84465422 + 62697916 62698480 + 57550765 57551831 + 22301074 100980370 MODEL JARIFH010000018;XM_034942685;XM_055101181 XP_054957156 peptidyl-prolyl cis-trans isomerase A pseudogene APPROVED protein-coding 11688713 NDFIP1 Nedd4 family interacting protein 1 ENCODES a protein that exhibits WW domain binding (inferred); INVOLVED IN CD4-positive, alpha-beta T cell proliferation (ortholog); negative regulation of CD4-positive, alpha-beta T cell proliferation (ortholog); negative regulation of inflammatory response (ortholog); ASSOCIATED WITH familial adenomatous polyposis 1 (ortholog); genetic disease (ortholog); Hereditary Neoplastic Syndromes (ortholog); FOUND IN cell cortex (inferred); cytoplasm (inferred); endosome membrane (inferred) 5 5 5 135494488 135538959 + 143596345 143622913 + 137467161 137511569 + 22301074;30032202 100980502 A0A2R8ZS48 MODEL JARIFH010000006;XM_034960680 XP_034816571 A0A2R8ZS48 NEDD4 family-interacting protein 1 protein-coding ENSPPAG00000026599 5 143600789 143622913 + 11688727 PKP2 plakophilin 2 ENCODES a protein that exhibits alpha-catenin binding (inferred); intermediate filament binding (inferred); molecular adaptor activity (inferred); INVOLVED IN adherens junction maintenance (ortholog); cardiac muscle cell action potential (ortholog); cell-cell adhesion (ortholog); ASSOCIATED WITH arrhythmogenic right ventricular cardiomyopathy (ortholog); arrhythmogenic right ventricular dysplasia 1 (ortholog); arrhythmogenic right ventricular dysplasia 9 (ortholog); FOUND IN adherens junction (ortholog); intercalated disc (ortholog); intermediate filament (ortholog) 12 12 12 63847328 63953815 + 55925514 56030996 + 53322227 53428747 + 30032202 100980846 A0A2R9A0V0;A0A2R9A2P7;A0A2R9A2Q2 MODEL JARIFH010000013;XM_008966323;XM_034936048;XM_057299471 XP_008964571;XP_057155454 A0A2R9A0V0 plakophilin-2 protein-coding ENSPPAG00000027997 12 55925174 56030998 + 11688743 B4GALT5 beta-1,4-galactosyltransferase 5 ENCODES a protein that exhibits glycosyltransferase activity (inferred); metal ion binding (inferred); N-acetyllactosamine synthase activity (inferred); INVOLVED IN glycosylation (ortholog); poly-N-acetyllactosamine biosynthetic process (ortholog); ASSOCIATED WITH COVID-19 (ortholog); Experimental Liver Cirrhosis (ortholog); genetic disease (ortholog); FOUND IN Golgi apparatus (inferred); Golgi cisterna membrane (inferred); Golgi membrane (inferred) 20 20 20 55374468 55455125 - 47042479 47123209 - 45977801 46058429 - 22301074;30032202 100982032 A0A2R9ABP1;A0A2R9ABP6 MODEL JARIFH010000021;XM_008961466 XP_008959714 A0A2R9ABP6 protein-coding ENSPPAG00000029604 20 47041469 47123214 - 11688762 GDE1 glycerophosphodiester phosphodiesterase 1 ENCODES a protein that exhibits glycerophosphodiester phosphodiesterase activity (inferred); glycerophosphoinositol glycerophosphodiesterase activity (inferred); lysophospholipase activity (inferred); INVOLVED IN N-acylethanolamine metabolic process (ortholog); phospholipid metabolic process (ortholog); PARTICIPATES IN glycerophospholipid metabolic pathway; ASSOCIATED WITH genetic disease (ortholog); FOUND IN membrane (inferred); plasma membrane (inferred) 16 16 16 25288137 25309941 - 19602611 19623047 - 18789681 18809783 + 22301074 100982724 A0A2R9AFK3 MODEL JARIFH010000017;XM_003830563;XM_024925923 XP_003830611;XP_024781691 A0A2R9AFK3 protein-coding ENSPPAG00000031160 16 19602611 19623041 - 11688772 PKNOX2 PBX/knotted 1 homeobox 2 ENCODES a protein that exhibits actin filament binding (inferred); actin monomer binding (inferred); DNA binding (inferred); INVOLVED IN regulation of transcription by RNA polymerase II (ortholog); ASSOCIATED WITH Chromosome 11, Partial Trisomy 11q (ortholog); Dwarfism (ortholog); Familial Prostate Cancer (ortholog); FOUND IN actin cytoskeleton (inferred); cytoplasm (inferred); intercellular bridge (inferred) 11 11 11 126912553 127240365 + 123906012 124173865 + 119991916 120259800 + 30032202 100985008 A0A2R9CF88 MODEL JARIFH010000012;XM_003819921;XM_003819923;XM_003819924;XM_008973344;XM_008973345;XM_008973346;XM_034933986;XM_034933987;XM_055095037;XM_055095038;XM_055095039;XM_055095040;XM_055095042;XM_057299287;XM_057299288 XP_003819969;XP_003819971;XP_003819972;XP_008971592;XP_008971594;XP_034789877;XP_054951012;XP_054951013;XP_054951014;XP_054951015;XP_054951017;XP_057155270;XP_057155271 A0A2R9CF88 homeobox protein PKNOX2 protein-coding ENSPPAG00000042956 11 124072715 124173865 + 11688812 C6H6orf52 chromosome 6 C6orf52 homolog ASSOCIATED WITH cataract 13 with adult i phenotype (ortholog); genetic disease (ortholog) 6 6 6 21310715 21326808 - 10792736 10815260 - 10512465 10535628 - 30032202 100985286 A0A2R9A0Z1 MODEL JARIFH010000007;XM_003827545;XM_055113164;XM_055113165 XP_003827593;XP_054969139;XP_054969140 A0A2R9A0Z1 chromosome 6 open reading frame, human C6orf52;putative uncharacterized protein C6orf52 homolog;putative uncharacterized protein C6orf52-like APPROVED protein-coding ENSPPAG00000028663 6 10792736 10815257 - 11688821 TRAF1 TNF receptor associated factor 1 ENCODES a protein that exhibits identical protein binding (inferred); metal ion binding (inferred); thioesterase binding (inferred); INVOLVED IN regulation of apoptotic process (inferred); regulation of extrinsic apoptotic signaling pathway (inferred); signal transduction (inferred); PARTICIPATES IN tumor necrosis factor mediated signaling pathway; ASSOCIATED WITH genetic disease (ortholog); multiple sclerosis (ortholog); patent ductus arteriosus (ortholog); FOUND IN cytoplasm (inferred) 9 9 9 18416759 18444504 + 120376592 120403185 - 92030205 92056776 - 22301074;30032202 100985558 A0A2R9C863 MODEL JARIFH010000010;XM_003833097;XM_014346272;XM_034928955;XM_034928957;XM_034928958;XM_055117693 XP_003833145;XP_014201758;XP_034784846;XP_034784848;XP_034784849;XP_054973668 A0A2R9C863 TNF receptor-associated factor 1 protein-coding ENSPPAG00000041780 9 120376592 120402948 - 11688839 PHGDH phosphoglycerate dehydrogenase ENCODES a protein that exhibits phosphoglycerate dehydrogenase activity (ortholog); INVOLVED IN G1 to G0 transition (ortholog); gamma-aminobutyric acid metabolic process (ortholog); glial cell development (ortholog); PARTICIPATES IN dihydropyrimidine dehydrogenase deficiency pathway; dimethylglycine dehydrogenase deficiency pathway; nonketotic hyperglycinemia pathway; ASSOCIATED WITH amino acid metabolic disorder (ortholog); Breast Neoplasms (ortholog); epilepsy (ortholog) 1 1 1 111937516 111969976 + 117800843 117833462 - 82803155 82835465 - 22301074;30032202 100985690 A0A2R9BZD9;A0A2R9BZX3;A0A2R9BZY7;A0A2R9C2H1 MODEL JARIFH010000001;XM_003806303 XP_003806351 A0A2R9C2H1 D-3-phosphoglycerate dehydrogenase protein-coding ENSPPAG00000040285 1 117800843 117833462 - 11688855 LOC100986772 40S ribosomal protein S19-like 10 10 10 57817760 57820570 - 45251958 45254718 - 42072334 42075134 - 100986772 MODEL JARIFH010000011 40S ribosomal protein S19 pseudogene APPROVED pseudo 11688856 ARHGAP29 Rho GTPase activating protein 29 ENCODES a protein that exhibits metal ion binding (inferred); PDZ domain binding (inferred); INVOLVED IN regulation of small GTPase mediated signal transduction (inferred); signal transduction (inferred); ASSOCIATED WITH cleft lip (ortholog); COVID-19 (ortholog); genetic disease (ortholog); FOUND IN cytoplasm (inferred); membrane (inferred); protein-containing complex (inferred) 1 1 1 131902243 132026713 + 95561922 95640214 - 96835259 96910999 - 22301074;30032202 100986819 A0A2R8ZJE6;A0A2R8ZLN1 MODEL JARIFH010000001;XM_003808438;XM_003808439;XM_034931512;XM_055115880;XM_055115882;XM_055115884 XP_003808487;XP_054971855;XP_054971857;XP_054971859 A0A2R8ZLN1 rho GTPase-activating protein 29 protein-coding ENSPPAG00000020199 1 95561933 95640214 - 11688888 LOC100987181 serine/threonine-protein kinase 24-like X X X 135711376 135717330 - 135685887 135695688 - 125418616 125423680 - 100987181 MODEL JARIFH010000024 serine/threonine-protein kinase 24 pseudogene APPROVED pseudo 11688889 GJD2 gap junction protein delta 2 INVOLVED IN cell-cell signaling (ortholog); chemical synaptic transmission (ortholog); neuronal action potential (ortholog); ASSOCIATED WITH Bloom syndrome (ortholog); Brain Hypoxia (ortholog); colorectal cancer (ortholog); FOUND IN synapse (ortholog) 15 15 15 28115454 28119280 - 31928451 31930985 - 13668639 13672691 - 22301074;30032202 100987418 A0A2R8ZQX9 MODEL JARIFH010000016;XM_003812133;XM_034938496 XP_003812181;XP_034794387 A0A2R8ZQX9 protein-coding ENSPPAG00000026603 15 31928157 31931474 - 11688895 LOC100987759 protocadherin beta-18 5 5 5 134620613 134628328 + 142710251 142713438 + 136593949 136600805 + 22301074 100987759 MODEL JARIFH010000006;XM_003829139 XP_003829187 protein-coding 11688900 TELO2 telomere maintenance 2 ENCODES a protein that exhibits Hsp90 protein binding (inferred); molecular adaptor activity (inferred); protein kinase binding (inferred); INVOLVED IN positive regulation of TORC1 signaling (inferred); positive regulation of TORC2 signaling (inferred); protein stabilization (inferred); PARTICIPATES IN mTOR signaling pathway; ASSOCIATED WITH epilepsy (ortholog); genetic disease (ortholog); idiopathic generalized epilepsy (ortholog); FOUND IN TTT Hsp90 cochaperone complex (ortholog) 16 16 16 5542350 5560186 + 1548212 1566337 + 112856 130175 + 30032202 100988172 A0A2R9AJG3;A0A2R9AP71 MODEL JARIFH010000017;XM_003807616 XP_003807664 A0A2R9AJG3 TEL2, telomere maintenance 2, homolog;telomere length regulation protein TEL2 homolog protein-coding ENSPPAG00000031847 16 1548212 1566337 + 11688925 PSMB11 proteasome subunit beta 11 ENCODES a protein that exhibits peptidase activity (inferred); threonine-type endopeptidase activity (inferred); INVOLVED IN CD8-positive, alpha-beta T cell differentiation (ortholog); proteolysis (ortholog); T cell differentiation in thymus (ortholog); ASSOCIATED WITH Brain-Lung-Thyroid Syndrome (ortholog); genetic disease (ortholog); lysinuric protein intolerance (ortholog); FOUND IN cytoplasm (inferred); nucleus (inferred); proteasome complex (inferred) 14 14 14 23690953 23693085 + 21959074 21961189 + 3861823 3863949 + 22301074 100988845 A0A2R8Z8M2 MODEL JARIFH010000015;XM_003808120 XP_003808168 A0A2R8Z8M2 proteasome subunit beta type-11 protein-coding ENSPPAG00000005580 14 21959146 21960048 + 11688930 KCTD5 potassium channel tetramerization domain containing 5 ENCODES a protein that exhibits identical protein binding (ortholog); protein-containing complex binding (ortholog); INVOLVED IN protein homooligomerization (inferred); ASSOCIATED WITH epilepsy (ortholog); genetic disease (ortholog); idiopathic generalized epilepsy (ortholog); FOUND IN cytosol (ortholog) 16 16 16 6968567 6995206 + 2796117 2822819 + 1542488 1569044 + 22301074;30032202 100988931 A0A2R9ARX8;A0A2R9ARY2 MODEL JARIFH010000017;XM_008972550 XP_008970798 A0A2R9ARY2 BTB/POZ domain-containing protein KCTD5;potassium channel tetramerisation domain containing 5 protein-coding ENSPPAG00000033258 16 2796117 2822819 + 11688941 DOCK7 dedicator of cytokinesis 7 ENCODES a protein that exhibits guanyl-nucleotide exchange factor activity (inferred); small GTPase binding (inferred); INVOLVED IN hematopoietic progenitor cell differentiation (ortholog); interkinetic nuclear migration (ortholog); negative regulation of cold-induced thermogenesis (ortholog); ASSOCIATED WITH developmental and epileptic encephalopathy 23 (ortholog); epilepsy (ortholog); Experimental Liver Cirrhosis (ortholog); FOUND IN COP9 signalosome (ortholog); neuromuscular junction (ortholog) 1 1 1 163313398 163546558 + 63528826 63760513 - 61713217 61946371 - 30032202 100989074 A0A2R8ZG76;A0A2R8ZG82;A0A2R8ZG88 MODEL JARIFH010000001;XM_034966431;XM_034966435;XM_034966442;XM_034966450;XM_034966452;XM_034966456;XM_034966459;XM_034966461;XM_034966462;XM_034966463;XM_055091843;XM_055091862 XP_034822326;XP_034822333;XP_034822341;XP_034822343;XP_034822347;XP_034822350;XP_034822352;XP_034822353;XP_034822354;XP_054947818;XP_054947837 A0A2R8ZG82 dedicator of cytokinesis protein 7 protein-coding ENSPPAG00000016435 1 63529227 63740970 - 11689010 TM4SF18 transmembrane 4 L six family member 18 ASSOCIATED WITH genetic disease (ortholog); glycogen storage disease XV (ortholog); FOUND IN membrane (inferred) 3 3 3 147213163 147229686 - 153915585 153930910 - 146338782 146353709 - 22301074;30032202 100989767 A0A2R9BTJ9 MODEL JARIFH010000004;XM_003826483;XM_034957586 XP_003826531;XP_034813477 A0A2R9BTJ9 transmembrane 4 L6 family member 18 protein-coding ENSPPAG00000039245 3 153915585 153930910 - 11689020 LOC100989811 10 kDa heat shock protein, mitochondrial-like 14 14 14 63921876 63922465 + 62431456 62431883 + 44175376 44175845 + 100989811 MODEL JARIFH010000015 10 kDa heat shock protein, mitochondrial pseudogene APPROVED pseudo 11689021 NCCRP1 NCCRP1, F-box associated domain containing INVOLVED IN positive regulation of cell population proliferation (inferred); ASSOCIATED WITH genetic disease (ortholog); maturity-onset diabetes of the young type 1 (ortholog); type 2 diabetes mellitus (ortholog); FOUND IN cytoplasm (inferred); cytosol (inferred) 19 19 19 47363520 47367520 + 44844060 44849343 + 36295765 36300893 + 30032202 100990917 A0A2R9A048 MODEL JARIFH010000020;XM_034945766;XM_034945767;XM_055103599 XP_034801657;XP_034801658;XP_054959574 A0A2R9A048 F-box only protein 50;non-specific cytotoxic cell receptor protein 1 homolog;non-specific cytotoxic cell receptor protein 1 homolog (zebrafish) APPROVED protein-coding ENSPPAG00000027874 19 44844711 44848796 + 11689032 STK3 serine/threonine kinase 3 ENCODES a protein that exhibits ATP binding (inferred); identical protein binding (inferred); magnesium ion binding (inferred); INVOLVED IN apoptotic process (ortholog); canonical Wnt signaling pathway (ortholog); cell differentiation involved in embryonic placenta development (ortholog); ASSOCIATED WITH Cohen syndrome (ortholog); genetic disease (ortholog); FOUND IN cytoplasm (inferred); nucleus (inferred); protein-containing complex (inferred) 8 8 8 91344435 91711597 - 97278139 97592727 - 95098185 95465324 - 22301074;30032202 100992217 A0A2R9C3A7;A0A2R9C3B7;A0A2R9C6A3 MODEL JARIFH010000009;XM_034966412 XP_034822303 A0A2R9C3A7 serine/threonine-protein kinase 3 protein-coding ENSPPAG00000040970 8 97355173 97708437 - 11689046 LOC100993239 glucoside xylosyltransferase 1-like 20 4 20 32710965 32712182 - 195619812 195621029 + 26678491 26679708 + 100993239 MODEL JARIFH010000021 glucoside xylosyltransferase 1 pseudogene APPROVED pseudo 11689055 LOC103785326 uncharacterized LOC103785326 22 22 32381422 32398028 + 18637846 18652970 + 103785326 MODEL JARIFH010000023;XR_004669540;XR_611009 ncrna 11689061 LCE4A late cornified envelope 4A ENCODES a protein that exhibits identical protein binding (ortholog); INVOLVED IN epidermis development (inferred); keratinization (inferred); ASSOCIATED WITH gastrointestinal stromal tumor (ortholog); genetic disease (ortholog); immunodeficiency 42 (ortholog) 1 1 1 96886429 96886739 - 131684211 131684630 + 128053534 128053844 + 22301074 103785871 A0A2R8ZT36 MODEL JARIFH010000001;XM_014347089 XP_014202575 A0A2R8ZT36 LOC103785871 late cornified envelope protein 4A APPROVED protein-coding ENSPPAG00000024188 11689064 LOC103786398 uncharacterized LOC103786398 15 15 15 82245432 82270556 + 86893689 86917752 + 67685891 67710357 + 103786398 MODEL JARIFH010000016;XR_001337203 ncrna 11689068 LOC103786505 uncharacterized LOC103786505 16 16 16 95346246 95431933 - 79745143 79794413 - 60309602 60365504 - 103786505 MODEL JARIFH010000017;XR_004666938;XR_004666939;XR_008621537;XR_008621538;XR_008621539;XR_612238 ncrna 11689076 LOC103786515 60S ribosomal protein L10-like 2B 2B 2B 67361976 67368174 - 169323050 169324109 - 51961815 51968013 - 22301074;30032202 103786515 MODEL JARIFH010000003;XM_034954405 XP_034810296 protein-coding 11689082 LOC106635519 carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2-like 15 15 15 31838761 31839535 - 35643573 35644347 - 17387983 17389085 - 106635519 MODEL JARIFH010000016 carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2 pseudogene APPROVED pseudo 11689083 LOC100969624 interferon alpha-16 ENCODES a protein that exhibits cytokine activity (inferred); cytokine receptor binding (inferred); INVOLVED IN defense response (inferred); defense response to virus (inferred); signal transduction (inferred); FOUND IN extracellular region (inferred); extracellular space (inferred) 9 9 9 103324919 103325859 + 21691067 21691994 - 21073387 21074318 - 22301074;30032202 100969624 A0A2R8Z8Q0 MODEL JARIFH010000010;XM_003830670 XP_003830718 protein-coding 11689087 FOXE1 forkhead box E1 ENCODES a protein that exhibits DNA-binding transcription factor activity (ortholog); DNA-binding transcription factor activity, RNA polymerase II-specific (ortholog); sequence-specific DNA binding (ortholog); INVOLVED IN cell migration (ortholog); chordate pharynx development (ortholog); cranial skeletal system development (ortholog); ASSOCIATED WITH Bamforth-Lazarus syndrome (ortholog); congenital disorder of glycosylation Ii (ortholog); congenital disorder of glycosylation type II (ortholog); FOUND IN nucleus (ortholog) 9 9 9 41602840 41606327 - 97065256 97068012 + 68943747 68947226 + 30032202 100969767 MODEL JARIFH010000010;XM_034929779;XM_057303176 XP_057159159 forkhead box E1 (thyroid transcription factor 2);forkhead box protein E1 protein-coding 11689092 ARL10 ADP ribosylation factor like GTPase 10 ENCODES a protein that exhibits GTP binding (inferred); GTPase activity (inferred); nucleotide binding (inferred); ASSOCIATED WITH Ehlers-Danlos syndrome dermatosparaxis type (ortholog); genetic disease (ortholog); Sotos syndrome (ortholog); FOUND IN membrane (inferred) 5 5 5 169584106 169600534 + 178735211 178744201 + 171662241 171670512 + 22301074 100970350 A0A2R9BSL7;A0A2R9BSM9;A0A2R9BW19 MODEL JARIFH010000006;XM_034961012;XM_034961013;XM_034961014 XP_034816903;XP_034816904 A0A2R9BW19 ADP-ribosylation factor-like protein 10 protein-coding ENSPPAG00000039208 11689099 ZBBX zinc finger B-box domain containing ASSOCIATED WITH genetic disease (ortholog) 3 3 3 165138882 165279093 - 172313638 172451566 - 164254897 164422008 - 22301074;30032202 100971012 A0A2R9CNP7;A0A2R9CT71 MODEL JARIFH010000004;XM_034957692;XM_055110637;XM_055110638;XM_055110639;XM_055110640;XM_055110642;XM_055110643;XM_055110644;XM_055110645;XM_055110646;XM_055110647;XM_055110648;XM_055110649;XM_055110650;XM_055110651;XM_057301954 XP_054966612;XP_054966613;XP_054966614;XP_054966615;XP_054966617;XP_054966618;XP_054966619;XP_054966620;XP_054966621;XP_054966622;XP_054966623;XP_054966624;XP_054966625;XP_054966626;XP_057157937 A0A2R9CT71 zinc finger B-box domain-containing protein 1 protein-coding ENSPPAG00000043991 3 172313638 172451566 - 11689123 LRIF1 ligand dependent nuclear receptor interacting factor 1 ENCODES a protein that exhibits nuclear retinoic acid receptor binding (inferred); INVOLVED IN dosage compensation by inactivation of X chromosome (inferred); regulation of DNA-templated transcription (inferred); ASSOCIATED WITH autistic disorder (ortholog); Facioscapulohumeral Muscular Dystrophy 3 (ortholog); genetic disease (ortholog); FOUND IN chromosome, telomeric region (ortholog) 1 1 1 115222961 115244582 + 126736014 126822457 + 113523567 113611043 - 22301074;30032202 100973598 A0A2R9BWU3;A0A2R9BXG6 MODEL JARIFH010000001;XM_003810665;XM_008962997;XM_008962998;XM_008962999;XM_014346812;XM_034933451;XR_001338623;XR_004665179;XR_004665181 XP_003810713;XP_008961245;XP_008961247 A0A2R9BWU3 ligand-dependent nuclear receptor-interacting factor 1 protein-coding ENSPPAG00000039930 1 126736039 126752907 + 11689154 C3H3orf38 chromosome 3 C3orf38 homolog INVOLVED IN positive regulation of apoptotic process (inferred); ASSOCIATED WITH genetic disease (ortholog); FOUND IN nucleus (inferred) 3 3 3 88311795 88320125 + 90400274 90408512 + 88288113 88296373 + 100974310 A0A2R9B9I3 MODEL JARIFH010000004;XM_003831516;XM_008956862 XP_003831564;XP_008955110 A0A2R9B9I3 chromosome 3 open reading frame, human C3orf38;uncharacterized protein C3orf38 homolog APPROVED protein-coding ENSPPAG00000036241 3 90400274 90408512 + 11689165 MYLK3 myosin light chain kinase 3 ENCODES a protein that exhibits calmodulin-dependent protein kinase activity (ortholog); INVOLVED IN cardiac myofibril assembly (ortholog); positive regulation of sarcomere organization (ortholog); sarcomerogenesis (ortholog); ASSOCIATED WITH genetic disease (ortholog); glycogen storage disease IXb (ortholog); Parkinson's disease 17 (ortholog); FOUND IN actin cytoskeleton (ortholog); cytosol (ortholog) 16 16 16 62065765 62129712 - 45858723 45919859 - 26966653 27029413 - 22301074;30032202 100974667 A0A2R9A0B7 MODEL JARIFH010000017;XM_003819791;XM_014341750;XM_034940096;XM_034940097;XM_034940098;XM_055099278 XP_003819839;XP_034795989;XP_054955253 A0A2R9A0B7 protein-coding ENSPPAG00000028365 16 45863863 45905082 - 11689201 RHCG Rh family C glycoprotein ENCODES a protein that exhibits ammonium transmembrane transporter activity (inferred); ankyrin binding (inferred); carbon dioxide transmembrane transporter activity (inferred); INVOLVED IN ammonium transmembrane transport (inferred); carbon dioxide transmembrane transport (inferred); intracellular monoatomic ion homeostasis (inferred); ASSOCIATED WITH Bloom syndrome (ortholog); colorectal cancer (ortholog); D-2-hydroxyglutaric aciduria 2 (ortholog); FOUND IN apical plasma membrane (ortholog); basal plasma membrane (ortholog); basolateral plasma membrane (ortholog) 15 15 15 82726346 82755232 - 87372238 87397011 - 68165708 68190964 - 22301074;30032202 100974789 A0A2R9C1Q8;A0A2R9C290;A0A2R9C4Q8 MODEL JARIFH010000016;XM_003820424;XM_008973885;XM_034939395;XM_034939396;XM_034939397 XP_003820472 A0A2R9C1Q8 ammonium transporter Rh type C protein-coding ENSPPAG00000040713 15 87372238 87397011 - 11689224 LOC100976323 olfactory receptor 7C2 ENCODES a protein that exhibits G protein-coupled receptor activity (inferred); olfactory receptor activity (inferred); INVOLVED IN detection of chemical stimulus involved in sensory perception of smell (inferred); G protein-coupled receptor signaling pathway (inferred); sensory perception of smell (inferred); ASSOCIATED WITH genetic disease (ortholog); FOUND IN membrane (inferred); plasma membrane (inferred) 19 19 19 18874051 18876283 + 15461808 15462770 + 14490688 14491799 + 22301074;30032202 100976323 A0A2R8ZGF2 MODEL JARIFH010000020;XM_003813594 XP_003813642 A0A2R8ZGF2 protein-coding ENSPPAG00000016589 19 15461808 15462770 + 11689227 LOC100977019 eukaryotic initiation factor 4A-I-like 13 13 13 19295385 19296603 + 28224667 28225885 + 9884216 9885434 + 100977019 MODEL JARIFH010000014 eukaryotic initiation factor 4A-I pseudogene APPROVED pseudo 11689228 TMED4 transmembrane p24 trafficking protein 4 INVOLVED IN positive regulation of canonical NF-kappaB signal transduction (ortholog); ASSOCIATED WITH genetic disease (ortholog); pleomorphic xanthoastrocytoma (ortholog); FOUND IN endoplasmic reticulum (inferred); endoplasmic reticulum membrane (inferred); endoplasmic reticulum-Golgi intermediate compartment (inferred) 7 7 7 97811961 97819543 - 45358692 45366036 - 45289666 45297030 - 30032202 100977042 A0A2R9B5E4;A0A2R9B5F1 MODEL JARIFH010000008;XM_003805225;XM_008968913;XM_014345650;XM_055115902 XP_003805273;XP_008967161;XP_014201136;XP_054971877 A0A2R9B5E4 transmembrane emp24 domain-containing protein 4;transmembrane emp24 protein transport domain containing 4 protein-coding ENSPPAG00000034880 7 45361693 45366395 - 11689243 CFAP99 cilia and flagella associated protein 99 ASSOCIATED WITH genetic disease (ortholog) 4 4 4 2692154 2737601 + 2470752 2512802 + 2564809 2609964 + 100978563 A0A2R9BAF9 MODEL JARIFH010000005;XM_008965519;XM_034958213 XP_008963767 A0A2R9BAF9 cilia- and flagella-associated protein 99 protein-coding ENSPPAG00000035753 4 2478352 2513349 + 11689262 TMEM205 transmembrane protein 205 ASSOCIATED WITH alpha-mannosidosis (ortholog); Charcot-Marie-Tooth disease dominant intermediate B (ortholog); episodic ataxia type 2 (ortholog); FOUND IN membrane (inferred) 19 19 19 15255428 15259038 - 11601256 11604289 - 10890020 10893608 - 100978666 A0A2R9BS18 MODEL JARIFH010000020;XM_008955955;XM_008955956;XM_008955957;XM_034946785;XM_034946786;XM_057300721 XP_008954203;XP_008954204;XP_008954205;XP_034802676;XP_057156704 A0A2R9BS18 protein-coding ENSPPAG00000039124 19 11601256 11604203 - 11689279 VPS35L VPS35 endosomal protein sorting factor like INVOLVED IN endocytic recycling (inferred); Golgi to plasma membrane transport (inferred); protein transport (inferred); ASSOCIATED WITH Ritscher-Schinzel Syndrome 3 (ortholog); FOUND IN endosome (inferred) 16 16 16 25341646 25491299 + 19656142 19801674 + 18611371 18756113 - 30032202 100978667 A0A2R9A2Z9;A0A2R9A304;A0A2R9A317;A0A2R9A8F2 MODEL JARIFH010000017;XM_003830551;XM_034939946;XM_034939947;XM_055100228 XP_003830599;XP_054956203 A0A2R9A304 C16H16orf62 UPF0505 protein C16orf62 homolog;UPF0505 protein C16orf62-like;VPS35 endosomal protein sorting factor-like;VPS35 endosomal protein-sorting factor-like;chromosome 16 open reading frame, human C16orf62 APPROVED protein-coding ENSPPAG00000028970 16 19656142 19801198 + 11689319 CALCR calcitonin receptor ENCODES a protein that exhibits calcitonin binding (ortholog); calcitonin receptor activity (ortholog); INVOLVED IN adenylate cyclase-activating G protein-coupled receptor signaling pathway (ortholog); adenylate cyclase-modulating G protein-coupled receptor signaling pathway (ortholog); cellular response to transforming growth factor beta stimulus (ortholog); ASSOCIATED WITH genetic disease (ortholog); Herpes Simplex Encephalitis (ortholog); hypercalcemia (ortholog); FOUND IN axon (ortholog); neuronal cell body (ortholog) 7 7 7 159534252 159684366 - 98975906 99125841 - 85382167 85532562 - 22301074;30032202 100978746 A0A2R8ZPE3;A0A2R8ZQM0;A0A2R8ZSG9 MODEL JARIFH010000008;XM_003809722;XM_003809723;XM_034964461 XP_003809770 A0A2R8ZSG9 protein-coding ENSPPAG00000025678 7 98975906 99047162 - 11689347 LOC100978953 histone H2A type 1-A ENCODES a protein that exhibits DNA binding (inferred); protein heterodimerization activity (inferred); structural constituent of chromatin (inferred); INVOLVED IN chromatin organization (ortholog); ASSOCIATED WITH genetic disease (ortholog); FOUND IN chromosome (inferred); female germ cell nucleus (inferred); nucleosome (inferred) 6 6 6 36373052 36375136 - 25886573 25887064 - 25560820 25561293 - 22301074;30032202 100978953 A0A2R8ZA96;A0A2R8ZHX8 MODEL JARIFH010000007;XM_003823212 XP_003823260 A0A2R8ZA96;A0A2R8ZHX8 protein-coding ENSPPAG00000001350;ENSPPAG00000010106 6 25886620 25887015 - 11689355 CFAP210 cilia and flagella associated protein 210 ASSOCIATED WITH genetic disease (ortholog); FOUND IN axonemal microtubule (inferred) 2B 2B 2B 72318885 72372147 - 174383533 174436514 - 56915574 56968813 - 100980104 A0A2R9CBL4 MODEL JARIFH010000003;XM_003824295;XM_034954454 XP_003824343;XP_034810345 A0A2R9CBL4 CCDC173 cilia- and flagella- associated protein 210;coiled-coil domain containing 173;coiled-coil domain-containing protein 173 APPROVED protein-coding ENSPPAG00000040665 2B 174383632 174436413 - 11689373 ADAM9 ADAM metallopeptidase domain 9 ENCODES a protein that exhibits metalloendopeptidase activity involved in amyloid precursor protein catabolic process (ortholog); protein kinase C binding (ortholog); INVOLVED IN amyloid precursor protein catabolic process (ortholog); cell migration (ortholog); membrane protein ectodomain proteolysis (ortholog); PARTICIPATES IN epidermal growth factor/neuregulin signaling pathway; ASSOCIATED WITH Alzheimer's disease (ortholog); cervix uteri carcinoma in situ (ortholog); chronic obstructive pulmonary disease (ortholog); FOUND IN basolateral plasma membrane (ortholog); cell surface (ortholog); cytoplasm (ortholog) 8 8 8 33276626 33384700 + 35473280 35581192 + 38298194 38406706 + 22301074;30032202 100984660 A0A2R9ACM8;A0A2R9ACN0;A0A2R9ACN4;A0A2R9AHN6;A0A2R9AIT1 MODEL JARIFH010000009;XM_003830708;XR_004672880 XP_003830756 A0A2R9AIT1 disintegrin and metalloproteinase domain-containing protein 9 protein-coding ENSPPAG00000030625 8 35473278 35581192 + 11689399 HDDC2 HD domain containing 2 ENCODES a protein that exhibits 5'-deoxynucleotidase activity (inferred); metal ion binding (inferred); ASSOCIATED WITH genetic disease (ortholog) 6 6 6 143172278 143197594 - 127181179 127206843 - 123062566 123087717 - 30032202 100985846 A0A2R9B1N8 MODEL JARIFH010000007;XM_034962804;XM_034962805;XM_034962806 XP_034818695;XP_034818696 A0A2R9B1N8 5'-deoxynucleotidase HDDC2;HD domain-containing protein 2 protein-coding ENSPPAG00000033871 6 127181791 127205326 - 11689409 MGAT3 beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase ENCODES a protein that exhibits glycosyltransferase activity (ortholog); INVOLVED IN amyloid-beta metabolic process (ortholog); cellular response to oxidative stress (ortholog); cognition (ortholog); PARTICIPATES IN E-cadherin signaling pathway; ASSOCIATED WITH adenylosuccinase lyase deficiency (ortholog); genetic disease (ortholog); FOUND IN membrane (inferred) 22 22 22 51995998 52030835 + 38194445 38218881 + 20363244 20398471 + 22301074;30032202 100986687 A0A2R8ZNN5 MODEL JARIFH010000023;XM_008975113;XM_034949044;XM_034949045;XM_034949046;XM_034949047;XM_055105366 XP_008973361;XP_034804935;XP_034804936;XP_034804938;XP_054961341 A0A2R8ZNN5 mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase APPROVED protein-coding ENSPPAG00000025315 22 38214029 38215630 + 11689421 FCAMR Fc alpha and mu receptor ENCODES a protein that exhibits IgA binding (ortholog); IgM binding (ortholog); transmembrane signaling receptor activity (ortholog); ASSOCIATED WITH autistic disorder (ortholog); common variable immunodeficiency 7 (ortholog); gastrointestinal stromal tumor (ortholog); FOUND IN membrane (inferred) 1 1 1 42369137 42381632 + 186840337 186853189 - 182561953 182574818 - 30032202 100987379 A0A2R9AMD8 MODEL JARIFH010000001;XM_003822908;XM_034945520;XM_034945526;XM_034945529 XP_003822956;XP_034801420 A0A2R9AMD8 Fc fragment of IgA and IgM receptor;high affinity immunoglobulin alpha and immunoglobulin mu Fc receptor APPROVED protein-coding ENSPPAG00000031523 1 186841103 186852689 - 11689433 LOC100988099 intelectin-1 ENCODES a protein that exhibits calcium ion binding (inferred); identical protein binding (inferred); oligosaccharide binding (inferred); INVOLVED IN response to nematode (ortholog); ASSOCIATED WITH Arterial Occlusive Diseases (ortholog); autoimmune interstitial lung, joint, and kidney disease (ortholog); Carotid Atherosclerosis (ortholog); FOUND IN brush border membrane (ortholog); membrane raft (ortholog) 1 1 1 88703069 88712799 + 140156335 140165211 - 136233093 136242888 - 30032202 100988099 A0A2R9C9H9 MODEL JARIFH010000001;XM_003811863;XM_055112551 XP_054968526 A0A2R9C9H9 ITLN1 intelectin 1 APPROVED protein-coding ENSPPAG00000042008 1 140156335 140165211 - 11689445 MAPKBP1 mitogen-activated protein kinase binding protein 1 INVOLVED IN negative regulation of canonical NF-kappaB signal transduction (ortholog); negative regulation of defense response to bacterium (ortholog); negative regulation of interleukin-8 production (ortholog); ASSOCIATED WITH Bloom syndrome (ortholog); colorectal cancer (ortholog); genetic disease (ortholog); FOUND IN cytoplasm (ortholog); mitotic spindle pole (ortholog); nucleolus (ortholog) 15 15 15 35164434 35220010 + 38953331 38979176 + 20713859 20768224 + 22301074 100988304 MODEL JARIFH010000016;XM_034938565;XM_034938566;XM_034938567;XM_034938568;XM_034938569;XM_055098663;XR_004666483 XP_034794456;XP_034794458;XP_054954638 LOC100988304 mitogen-activated protein kinase-binding protein 1;uncharacterized LOC100988304 APPROVED protein-coding 11689463 FANCL FA complementation group L ENCODES a protein that exhibits metal ion binding (inferred); ubiquitin protein ligase activity (inferred); ubiquitin protein ligase binding (inferred); INVOLVED IN gamete generation (ortholog); regulation of cell population proliferation (ortholog); ASSOCIATED WITH 46 XX gonadal dysgenesis (ortholog); Fanconi anemia (ortholog); Fanconi anemia complementation group A (ortholog); FOUND IN chromatin (ortholog); nucleus (ortholog) 2A 2A 2A 68120135 68202535 + 59417463 59499863 - 58270620 58353001 - 30032202 100990248 A0A2R9ALJ5;A0A2R9ALK1 MODEL JARIFH010000002;XM_003830851;XM_008956272;XM_055107912;XM_055107913 XP_003830899;XP_008954520;XP_054963887;XP_054963888 A0A2R9ALJ5 E3 ubiquitin-protein ligase FANCL;Fanconi anemia complementation group L APPROVED protein-coding ENSPPAG00000031399 2A 59418265 59499496 - 11689497 LOC100990887 flavin-containing monooxygenase 5-like ENCODES a protein that exhibits flavin adenine dinucleotide binding (inferred); hypotaurine dehydrogenase activity (inferred); monooxygenase activity (inferred); INVOLVED IN lipid metabolic process (inferred); FOUND IN endoplasmic reticulum (inferred); endoplasmic reticulum membrane (inferred); membrane (inferred) 1 1 1 82814157 82824805 - 145810871 145838392 + 142040665 142051316 + 22301074;30032202 100990887 A0A2R9A337;A0A2R9A8I8 MODEL JARIFH010000001;XM_034933027 XP_034788918 A0A2R9A337 dimethylaniline monooxygenase [N-oxide-forming] 5-like APPROVED protein-coding ENSPPAG00000029061 11689508 WFDC2 WAP four-disulfide core domain 2 ENCODES a protein that exhibits aspartic-type endopeptidase inhibitor activity (inferred); peptidase inhibitor activity (inferred); serine-type endopeptidase inhibitor activity (inferred); ASSOCIATED WITH Experimental Liver Cirrhosis (ortholog); focal epilepsy (ortholog); genetic disease (ortholog); FOUND IN extracellular region (inferred) 20 20 20 51199239 51211036 + 42893345 42905122 + 41803624 41815442 + 22301074;30032202 100991558 A0A2R9AI68;A0A2R9AMX7;A0A2R9AQA0 MODEL JARIFH010000021;XM_008951356;XM_034947269 XP_008949604 A0A2R9AQA0 WAP four-disulfide core domain protein 2 protein-coding ENSPPAG00000031602 20 42893345 42905122 + 11689516 POU2AF2 POU class 2 homeobox associating factor 2 ENCODES a protein that exhibits DNA binding (inferred); POU domain binding (inferred); sequence-specific DNA binding (inferred); INVOLVED IN positive regulation of DNA-templated transcription (inferred); ASSOCIATED WITH ataxia telangiectasia (ortholog); Chromosome 11, Partial Trisomy 11q (ortholog); intellectual disability (ortholog); FOUND IN nucleus (inferred) 11 11 11 113091755 113122077 + 109981398 110011080 + 106125675 106165907 + 100991868 A0A2R9BGQ7;A0A2R9BQ92 MODEL JARIFH010000012;XM_003805429;XM_055095157 XP_054951132 A0A2R9BGQ7 C11H11orf53 POU domain class 2-associating factor 2;chromosome 11 C11orf53 homolog;chromosome 11 open reading frame, human C11orf53;uncharacterized protein C11orf53 homolog APPROVED protein-coding ENSPPAG00000037435 11 109971255 110011080 + 11689529 FKBP15 FKBP prolyl isomerase family member 15 ENCODES a protein that exhibits peptidyl-prolyl cis-trans isomerase activity (ortholog); ASSOCIATED WITH amphetamine abuse (ortholog); genetic disease (ortholog); substance-related disorder (ortholog); FOUND IN actin cytoskeleton (inferred); axon (inferred); endosome (inferred) 9 9 9 26156783 26218765 + 112636661 112691350 - 84259335 84321085 - 22301074;30032202 100993704 A0A2R9A5G5;A0A2R9AA72;A0A2R9AAS5 MODEL JARIFH010000010;XM_008958543;XM_008958544;XM_008958545;XM_008958547;XM_057303131 XP_008956792;XP_008956795;XP_057159114 A0A2R9A5G5 FK506 binding protein 15;FK506-binding protein 15;FKBP prolyl isomerase 15 APPROVED protein-coding ENSPPAG00000029425 9 112637110 112693319 - 11689573 GLB1L galactosidase beta 1 like ENCODES a protein that exhibits beta-galactosidase activity (inferred); hydrolase activity (inferred); hydrolase activity, acting on glycosyl bonds (inferred); INVOLVED IN carbohydrate metabolic process (inferred); ASSOCIATED WITH alacrima, achalasia, and impaired intellectual development syndrome (ortholog); cerebrotendinous xanthomatosis (ortholog); genetic disease (ortholog) 2B 2B 2B 121882055 121890862 - 225085154 225093644 - 106494214 106503001 - 22301074;30032202 100994959 A0A2R9BEV6 MODEL JARIFH010000003;XM_003818645;XM_008971998;XM_034955193;XM_055109126;XM_055109127 XP_003818693;XP_008970246;XP_034811084;XP_054965101;XP_054965102 A0A2R9BEV6 beta-galactosidase-1-like protein-like protein-coding ENSPPAG00000035895 2B 225085163 225093610 - 11689602 LOC100995447 nuclear receptor coactivator 4-like 14 14 14 66194426 66195731 - 65328750 65330219 - 46447526 46448993 - 100995447 MODEL JARIFH010000015 nuclear receptor coactivator 4 pseudogene APPROVED pseudo 11689603 SLC25A10 solute carrier family 25 member 10 ENCODES a protein that exhibits antiporter activity (ortholog); dicarboxylic acid transmembrane transporter activity (ortholog); malate transmembrane transporter activity (ortholog); INVOLVED IN glyceraldehyde-3-phosphate biosynthetic process (ortholog); malate transport (ortholog); phosphate ion transport (ortholog); ASSOCIATED WITH Animal Mammary Neoplasms (ortholog); carcinoma (ortholog); Experimental Mammary Neoplasms (ortholog); FOUND IN mitochondrial inner membrane (ortholog); mitochondrion (ortholog); nucleoplasm (ortholog) 17 17 17 103202842 103211573 + 81874036 81882607 + 76171759 76180484 + 22301074;30032202 100995735 A0A2R9ATI0 MODEL JARIFH010000018;XM_008956502;XM_034943122;XM_034943123 XP_008954750;XP_034799013;XP_034799014 A0A2R9ATI0 mitochondrial dicarboxylate carrier protein-coding ENSPPAG00000033525 17 81875710 81882106 + 11689621 LOC103783680 uncharacterized LOC103783680 8 8 8 31677032 31697664 - 33880378 33967349 - 36699420 36789552 - 103783680 MODEL JARIFH010000009;XR_004672868;XR_004672869;XR_004672870;XR_004672871 ncrna 11689630 LOC103783835 putative RRN3-like protein RRN3P1 16 16 27922421 27939338 + 16284003 16327473 + 22301074;30032202 103783835 MODEL JARIFH010000017;XM_034939873;XM_034939874;XM_034939875;XM_055099991;XM_055099992;XM_055099993;XM_055099994;XM_055099995;XM_055099996;XR_004666787;XR_004666788;XR_008621395;XR_008621396;XR_008621397;XR_008621398;XR_008621399 XP_054955966;XP_054955967;XP_054955968;XP_054955969;XP_054955970;XP_054955971 RNA polymerase I-specific transcription initiation factor RRN3-like;uncharacterized LOC103783835 APPROVED protein-coding 11689637 LOC103784280 uncharacterized LOC103784280 13 3 13 34621966 34819580 + 198748844 198760610 - 25198871 25400131 + 103784280 MODEL JARIFH010000014;XR_004665888;XR_004665889;XR_004665890;XR_004665891;XR_004665892;XR_008620593;XR_008620594 ncrna 11689655 LOC103784925 density-regulated protein-like 17 17 17 84322724 84323820 - 62559773 62566833 - 57413350 57420268 - 103784925 MODEL JARIFH010000018 density-regulated protein pseudogene APPROVED pseudo 11689656 CIST1 colon, intestine and stomach enriched 1 19 19 19 22114244 22121341 - 18700878 18706715 - 17725337 17731521 - 103785969 MODEL JARIFH010000020;XM_008971040 XP_008969288 LOC103785969 mucin-6-like;putative protein TPRXL;uncharacterized LOC729966 homolog APPROVED protein-coding 11689664 LOC103786294 uncharacterized LOC103786294 11 11 11 128095703 128098954 - 125021923 125029491 - 121119297 121121195 - 103786294 MODEL JARIFH010000012;XR_004665311 ncrna 11689705 PPP2R5B protein phosphatase 2 regulatory subunit B'beta ENCODES a protein that exhibits protein phosphatase regulator activity (inferred); INVOLVED IN cellular response to growth factor stimulus (ortholog); negative regulation of G0 to G1 transition (ortholog); positive regulation of neuron projection development (ortholog); ASSOCIATED WITH Bardet-Biedl syndrome (ortholog); genetic disease (ortholog); glycogen storage disease V (ortholog); FOUND IN protein phosphatase type 2A complex (inferred) 11 11 11 67194708 67204341 + 63621745 63631779 + 60280890 60290883 + 22301074;30032202 100968779 A0A2R9AP80 MODEL JARIFH010000012;XM_003828595;XM_008954024;XM_034932960 XP_003828643;XP_008952272;XP_034788851 A0A2R9AP80 serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit beta isoform protein-coding ENSPPAG00000032645 11 63621745 63631779 + 11689724 PIGQ phosphatidylinositol glycan anchor biosynthesis class Q ENCODES a protein that exhibits phosphatidylinositol N-acetylglucosaminyltransferase activity (ortholog); INVOLVED IN GPI anchor biosynthetic process (ortholog); ASSOCIATED WITH Developmental Disabilities (ortholog); epilepsy (ortholog); genetic disease (ortholog); FOUND IN endoplasmic reticulum membrane (ortholog); glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (ortholog) 16 16 4596020 4610283 + 585901 600482 + 22301074;30032202 100969226 A0A2R9C2H0;A0A2R9C2H4;A0A2R9C2H7;A0A2R9C5E5 MODEL JARIFH010000017;XM_003808806;XM_008960907;XM_034951536;XM_034951537 XP_008959155;XP_034807427;XP_034807428 A0A2R9C2H4 phosphatidylinositol N-acetylglucosaminyltransferase subunit Q protein-coding ENSPPAG00000040818 16 585901 600482 + 11689746 LOC100969966 proline-rich protein 2-like 22 22 22 54774603 54806857 + 41230640 41239334 + 23161197 23172307 + 100969966 MODEL JARIFH010000023;XM_003814659;XM_055105642 XP_054961617 wiskott-Aldrich syndrome protein homolog 1-like APPROVED protein-coding 11689752 LOC100970292 olfactory receptor 2J3-like 6 6 6 39784391 39785880 + 29664119 29665054 + 29005768 29007257 + 100970292 MODEL JARIFH010000007;XM_008955072 pseudo 11689756 HEPACAM hepatic and glial cell adhesion molecule INVOLVED IN protein localization (ortholog); ASSOCIATED WITH autism spectrum disorder (ortholog); Chromosome 11, Partial Trisomy 11q (ortholog); Dwarfism (ortholog); FOUND IN axon (inferred); cell-cell junction (inferred); membrane (inferred) 11 11 11 126720241 126737381 - 123662852 123678421 - 119746915 119764062 - 100971478 A0A2R9BFJ0 MODEL JARIFH010000012;XM_024930954;XM_034933962;XM_034933963;XM_034933964;XM_034933966;XM_034933967;XM_034933968 XP_024786722;XP_034789853;XP_034789854;XP_034789855;XP_034789857;XP_034789858;XP_034789859 A0A2R9BFJ0 hepatocyte cell adhesion molecule protein-coding ENSPPAG00000037050 11 123663210 123678015 - 11689769 LOC100974350 olfactory receptor 10J1 1 1 1 90148026 90148988 - 138592247 138593209 + 134794588 134795550 + 22301074 100974350 MODEL JARIFH010000001;XM_003820973 XP_003821021 protein-coding 11689774 MTHFD2L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2 like ENCODES a protein that exhibits methylenetetrahydrofolate dehydrogenase (NAD+) activity (ortholog); methylenetetrahydrofolate dehydrogenase (NADP+) activity (ortholog); INVOLVED IN 10-formyltetrahydrofolate metabolic process (ortholog); tetrahydrofolate interconversion (ortholog); PARTICIPATES IN folate cycle metabolic pathway; ASSOCIATED WITH genetic disease (ortholog); FOUND IN mitochondrial inner membrane (ortholog); mitochondrial matrix (ortholog) 4 4 4 55946632 56091887 - 55722237 55901553 - 49889607 50034860 - 22301074;30032202 100974548 A0A2R9BIX1;A0A2R9BIX6 MODEL JARIFH010000005;XM_003832325;XM_008957728;XM_008957730;XM_024928640;XM_024928641;XM_024928642;XM_024928643;XM_034958666;XM_034958667;XM_034958668;XM_034958669;XM_055111432;XM_055111434 XP_003832373;XP_008955978;XP_024784409;XP_024784410;XP_024784411;XP_034814558;XP_054967407;XP_054967409 A0A2R9BIX1 LOC106634687 bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial;methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like;probable bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2;probable bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2-like;uncharacterized LOC106634687 PROVISIONAL protein-coding ENSPPAG00000037827 4 55722237 55867117 - 11689795 LOC100974662 olfactory receptor 10A2 ENCODES a protein that exhibits G protein-coupled receptor activity (inferred); olfactory receptor activity (inferred); INVOLVED IN detection of chemical stimulus involved in sensory perception of smell (inferred); G protein-coupled receptor signaling pathway (inferred); sensory perception of smell (inferred); FOUND IN membrane (inferred); plasma membrane (inferred) 11 11 11 9270485 9286772 + 6689137 6690177 + 7004298 7007418 + 22301074 100974662 A0A2R8ZIY1 MODEL JARIFH010000012;XM_034932070;XM_055095174 XP_054951149 A0A2R8ZIY1 protein-coding ENSPPAG00000020673 11 6689193 6690104 + 11689800 LOC100974747 nuclear nucleic acid-binding protein C1D-like ENCODES a protein that exhibits DNA binding (inferred); RNA binding (inferred); INVOLVED IN rRNA processing (inferred); FOUND IN cytoplasm (inferred); nucleolus (inferred); nucleus (inferred) 10 10 10 91867139 91867687 + 78888856 78889278 + 76233426 76234054 + 30032202 100974747 A0A2R9BYE7 MODEL JARIFH010000011;XM_034930973 XP_034786864 A0A2R9BYE7 nuclear nucleic acid-binding protein C1D pseudogene APPROVED protein-coding ENSPPAG00000040091 11689802 UBE2O ubiquitin conjugating enzyme E2 O ENCODES a protein that exhibits ubiquitin conjugating enzyme activity (inferred); ubiquitin protein ligase activity (inferred); ubiquitin-protein transferase activity (inferred); INVOLVED IN positive regulation of BMP signaling pathway (inferred); protein K63-linked ubiquitination (inferred); protein monoubiquitination (inferred); ASSOCIATED WITH genetic disease (ortholog); FOUND IN cytoplasm (inferred); cytosol (inferred); nuclear body (inferred) 17 17 17 97257683 97321018 - 75888058 75950983 - 70337622 70400967 - 100976425 A0A2R9CCF1;A0A2R9CKJ4 MODEL JARIFH010000018;XM_003813233;XM_008965799;XM_024926177;XM_055101560 XP_003813281;XP_008964047;XP_024781945;XP_054957535 A0A2R9CKJ4 (E3-independent) E2 ubiquitin-conjugating enzyme;E2/E3 hybrid ubiquitin-protein ligase UBE2O protein-coding ENSPPAG00000042040 17 75889533 75952051 - 11689826 LOC100976943 keratin, type I cytoskeletal 18-like 5 5 5 71599695 71603461 - 78762897 78764218 - 73481362 73484460 - 100976943 MODEL JARIFH010000006 keratin, type I cytoskeletal 18 pseudogene APPROVED pseudo 11689834 LOC100977575 cytochrome b-c1 complex subunit 1, mitochondrial ENCODES a protein that exhibits protein-containing complex binding (ortholog); INVOLVED IN mitochondrial electron transport, ubiquinol to cytochrome c (ortholog); response to activity (ortholog); response to alkaloid (ortholog); PARTICIPATES IN electron transport chain pathway; ASSOCIATED WITH Aicardi-Goutieres Syndrome 1 (ortholog); Alzheimer's disease (ortholog); genetic disease (ortholog); FOUND IN mitochondrial respiratory chain complex III (ortholog) 3 3 3 48578456 48589180 - 49602770 49613717 - 48520870 48531947 - 22301074;30032202 100977575 A0A2R9B1Y2 MODEL JARIFH010000004;XM_008971711 XP_008969959 A0A2R9B1Y2 protein-coding ENSPPAG00000034955 3 49602770 49613717 - 11689851 GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) ENCODES a protein that exhibits globoside alpha-N-acetylgalactosaminyltransferase activity (ortholog); INVOLVED IN globoside metabolic process (ortholog); ASSOCIATED WITH COVID-19 (ortholog); developmental and epileptic encephalopathy 14 (ortholog); Ehlers-Danlos syndrome classic type 1 (ortholog); FOUND IN membrane (inferred) 9 9 9 6194405 6205631 + 132888427 132899352 - 104273080 104284268 - 22301074;30032202 100978291 A0A2R8ZP83;A0A2R8ZSA0;A0A2R8ZV33 MODEL JARIFH010000010;XM_008976003;XM_008976005;XM_008976007;XM_008976010;XM_008976013;XM_014346311;XM_034929390;XM_034929391;XM_034929392;XM_034929393;XM_034929395;XM_034929396;XM_034929397;XM_034929398;XM_034929399;XM_034929400;XM_034929401;XM_034929402;XM_055117521;XM_055117523;XM_055117524;XM_055117525;XM_055117526;XM_055117527;XM_055117528;XM_055117529 XP_008974261;XP_034785282;XP_034785283;XP_034785288;XP_034785291;XP_034785292;XP_054973496;XP_054973498;XP_054973499;XP_054973500;XP_054973501;XP_054973502;XP_054973503;XP_054973504 A0A2R8ZV33 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 APPROVED protein-coding ENSPPAG00000025608 9 132889064 132897832 - 11689890 SLC51B SLC51 subunit beta ENCODES a protein that exhibits bile acid transmembrane transporter activity (inferred); protein heterodimerization activity (inferred); transmembrane transporter activity (inferred); INVOLVED IN organic substance transport (ortholog); ASSOCIATED WITH Bloom syndrome (ortholog); cholestasis (ortholog); cognitive disorder (ortholog); FOUND IN basolateral plasma membrane (inferred); membrane (inferred); plasma membrane (inferred) 15 15 15 58463240 58470863 + 62268738 62277160 + 43988512 43992939 + 22301074 100979669 A0A2R9A8N4 MODEL JARIFH010000016;XM_034938942 XP_034794833 A0A2R9A8N4 organic solute transporter subunit beta;solute carrier family 51 beta subunit;solute carrier family 51 subunit beta APPROVED protein-coding ENSPPAG00000029986 15 62268738 62277160 + 11689902 IL4I1 interleukin 4 induced 1 ENCODES a protein that exhibits L-amino-acid oxidase activity (inferred); oxidoreductase activity (inferred); primary amine oxidase activity (inferred); INVOLVED IN positive regulation of transcription by RNA polymerase II (ortholog); PARTICIPATES IN Canavan disease pathway; glycine N-methyltransferase deficiency pathway; homocystinuria pathway; ASSOCIATED WITH Acute Lung Injury (ortholog); genetic disease (ortholog); Inflammation (ortholog); FOUND IN acrosomal vesicle (inferred); extracellular region (inferred); immunological synapse (inferred) 19 19 19 57925198 57965639 - 55819075 55858389 - 46902656 46942213 - 30032202 100980850 A0A2R9BWH7;A0A2R9BZW6 MODEL JARIFH010000020;XM_003814347;XM_055103356;XM_055103358;XM_055103364 XP_003814395;XP_054959331;XP_054959333;XP_054959339 A0A2R9BWH7 L-amino-acid oxidase protein-coding ENSPPAG00000039884 19 55819080 55858389 - 11689932 SOX30 SRY-box transcription factor 30 ENCODES a protein that exhibits beta-catenin binding (inferred); DNA binding (inferred); DNA-binding transcription activator activity, RNA polymerase II-specific (inferred); INVOLVED IN regulation of transcription by RNA polymerase II (ortholog); ASSOCIATED WITH genetic disease (ortholog); hepatocellular carcinoma (ortholog); Liver Metastasis (ortholog); FOUND IN chromocenter (inferred); cytoplasm (inferred); cytosol (inferred) 5 5 5 150954233 151001871 - 159642895 159688473 - 153022109 153067734 - 30032202 100984683 A0A2R9CET4;A0A2R9CHF9;A0A2R9CPM7;A0A2R9CPN3 MODEL JARIFH010000006;XM_003818991;XM_003818992;XM_008972404;XM_014345134;XM_024928976 XP_003819039;XP_003819040;XP_024784744 A0A2R9CET4 SRY-box 30;transcription factor SOX-30 APPROVED protein-coding ENSPPAG00000042889 5 159640126 159737776 - 11689950 C5H5orf46 chromosome 5 C5orf46 homolog ASSOCIATED WITH familial adenomatous polyposis 1 (ortholog); Hereditary Neoplastic Syndromes (ortholog); Neurodevelopmental Disorders (ortholog) 5 5 5 141277030 141291642 - 149342706 149357298 - 143331621 143348025 - 100986852 A0A2R9CBH9 MODEL JARIFH010000006;XM_003829062;XM_034960741 XP_003829110 A0A2R9CBH9 chromosome 5 open reading frame, human C5orf46;uncharacterized protein C5orf46 homolog APPROVED protein-coding ENSPPAG00000041880 5 149343467 149357298 - 11689961 LOC100988550 signal transducer and activator of transcription 5A ENCODES a protein that exhibits DNA-binding transcription activator activity, RNA polymerase II-specific (ortholog); DNA-binding transcription factor activity (ortholog); double-stranded DNA binding (ortholog); INVOLVED IN activated T cell proliferation (ortholog); B cell differentiation (ortholog); cell population proliferation (ortholog); PARTICIPATES IN erythropoietin signaling pathway; granulocyte-macrophage colony-stimulating factor signaling pathway; interleukin-12 signaling pathway; ASSOCIATED WITH Acute-Phase Reaction (ortholog); adenocarcinoma (ortholog); Animal Mammary Neoplasms (ortholog); FOUND IN nucleus (ortholog) 17 17 17 24563275 24586438 - 15228465 15251783 - 15005025 15029110 - 30032202 100988550 A0A2R9CAA2;A0A2R9CAH7;A0A2R9CL64 MODEL JARIFH010000018;XM_003813880;XM_008966485;XM_034941834 XP_003813928;XP_008964733;XP_034797725 A0A2R9CAH7 STAT5A APPROVED protein-coding ENSPPAG00000042087 17 15228465 15251783 - 11689987 LOC100989508 60S ribosomal protein L13a-like 1 1 1 42432375 42432983 - 186789337 186789962 + 182510822 182511450 + 100989508 MODEL JARIFH010000001 60S ribosomal protein L13a pseudogene APPROVED pseudo 11689988 PRDX5 peroxiredoxin 5 ENCODES a protein that exhibits identical protein binding (ortholog); peroxynitrite reductase activity (ortholog); signaling receptor binding (ortholog); INVOLVED IN hydrogen peroxide catabolic process (ortholog); NADPH oxidation (ortholog); positive regulation of collagen biosynthetic process (ortholog); ASSOCIATED WITH alopecia areata (ortholog); brucellosis (ortholog); Chronic Hepatitis C (ortholog); FOUND IN cytoplasm (inferred); cytoplasmic vesicle (inferred); cytosol (inferred) 11 11 11 66590326 66593993 + 63020097 63023624 + 59675138 59678804 + 22301074;30032202 100989671 A0A2R9AGM7;A0A2R9AGP8;A0A2R9ANI1 MODEL JARIFH010000012;XM_003828569;XM_008953979;XM_024930643 XP_003828617;XP_008952227;XP_024786411 A0A2R9AGM7 peroxiredoxin-5, mitochondrial protein-coding ENSPPAG00000031356 11 63020097 63023624 + 11690001 EPHB6 EPH receptor B6 ENCODES a protein that exhibits ATP binding (inferred); ephrin receptor activity (inferred); nucleotide binding (inferred); INVOLVED IN activated T cell proliferation (ortholog); positive regulation of T cell costimulation (ortholog); T cell mediated immunity (ortholog); ASSOCIATED WITH genetic disease (ortholog); malaria (ortholog); myoepithelioma (ortholog); FOUND IN cell surface (inferred); membrane (inferred); plasma membrane (inferred) 7 7 7 31713585 31729765 + 147337558 147353575 + 134845936 134862114 + 22301074;30032202 100990739 A0A2R9APK2;A0A2R9AQ56 MODEL JARIFH010000008;XM_003820560;XM_008974008;XM_014345845;XM_014345846;XM_034965121;XM_034965122;XM_034965123;XM_055115469;XM_055115470;XM_055115471 XP_003820608;XP_008972256;XP_014201331;XP_014201332;XP_034821013;XP_054971444;XP_054971445;XP_054971446 A0A2R9AQ56 ephrin type-B receptor 6 protein-coding ENSPPAG00000032825 7 147337558 147353575 + 11690036 TFR2 transferrin receptor 2 ENCODES a protein that exhibits co-receptor binding (inferred); transferrin receptor activity (inferred); INVOLVED IN acute-phase response (ortholog); multicellular organismal-level iron ion homeostasis (ortholog); ASSOCIATED WITH acute myeloid leukemia (ortholog); beta thalassemia (ortholog); genetic disease (ortholog); FOUND IN postsynapse (ortholog) 7 7 7 166796330 166818842 - 106048497 106060481 - 92647431 92669889 - 22301074;30032202 100990804 A0A2R9AU41 MODEL JARIFH010000008;XM_034964616;XM_034964617;XM_034964618;XM_055115237;XM_055115238;XM_055115239 XP_054971212;XP_054971213;XP_054971214 A0A2R9AU41 LOC103785158 transferrin receptor protein 2;transferrin receptor protein 2-like PROVISIONAL protein-coding ENSPPAG00000032823 7 106048935 106069238 - 11690053 TOX4 TOX high mobility group box family member 4 ENCODES a protein that exhibits DNA binding (inferred); ASSOCIATED WITH Brain-Lung-Thyroid Syndrome (ortholog); cone-rod dystrophy 13 (ortholog); genetic disease (ortholog); FOUND IN chromosome, telomeric region (ortholog) 14 14 14 22149066 22168973 + 20371820 20393696 + 2294892 2316901 + 30032202 100991302 A0A2R9B9J5;A0A2R9BHA1 MODEL JARIFH010000015;XM_008963320 XP_008961568 A0A2R9B9J5 protein-coding ENSPPAG00000036246 14 20371820 20393696 + 11690067 LOC100992160 protocadherin alpha-11 ENCODES a protein that exhibits calcium ion binding (inferred); INVOLVED IN cell adhesion (inferred); homophilic cell adhesion via plasma membrane adhesion molecules (inferred); nervous system development (inferred); ASSOCIATED WITH autosomal dominant intellectual developmental disorder 31 (ortholog); familial adenomatous polyposis 1 (ortholog); genetic disease (ortholog); FOUND IN endoplasmic reticulum (inferred); membrane (inferred); plasma membrane (inferred) 5 5 5 134179338 134408495 + 142280506 142491362 + 136150262 136376530 + 22301074 100992160 A0A2R8ZEY3;A0A2R8ZMF4;A0A2R8ZMG0;A0A2R8ZMG7;A0A2R8ZNN9;A0A2R8ZTC8;A0A2R8ZTD3;A0A2R9A1J5;A0A2R9A3Q0;A0A2R9A622;A0A2R9A6Z9;A0A2R9AIC3 MODEL JARIFH010000006;XM_003829157;XM_014345057;XM_014345058;XM_014345059;XM_014345060;XM_014345061;XM_014345062;XM_014345064;XM_014345066;XM_014345067;XM_014345068;XM_014345070;XM_014345071;XM_024928896;XM_034960628;XM_034960629;XM_034960630;XM_034960631;XM_034960632;XM_034960634;XM_034960635;XM_034960636;XM_034960637;XM_034960638;XM_034960639;XM_034960640;XM_034960641;XM_034960643;XM_055112720;XM_057302352;XM_057302353;XM_057302354 XP_003829205;XP_014200543;XP_014200544;XP_014200545;XP_014200546;XP_014200547;XP_014200548;XP_014200550;XP_014200552;XP_014200553;XP_024784664;XP_034816519;XP_034816521;XP_034816522;XP_034816523;XP_034816525;XP_034816526;XP_054968695;XP_057158335;XP_057158336;XP_057158337 A0A2R8ZEY3;A0A2R8ZMG7;A0A2R8ZNN9;A0A2R9A1J5;A0A2R9A3Q0;A0A2R9AIC3 LOC100992846;LOC129392987;PCDHA1;PCDHA9 protocadherin alpha 9;protocadherin alpha-1;protocadherin alpha-10;protocadherin alpha-12;protocadherin alpha-13;protocadherin alpha-2;protocadherin alpha-3;protocadherin alpha-4;protocadherin alpha-5;protocadherin alpha-6;protocadherin alpha-7;protocadherin alpha-8;protocadherin alpha-9;protocadherin alpha-C1;protocadherin alpha-C2 PROVISIONAL protein-coding ENSPPAG00000015078;ENSPPAG00000021393;ENSPPAG00000024384;ENSPPAG00000028190;ENSPPAG00000028775;ENSPPAG00000030806 5 142321070 142488986 + 11690134 OSR2 odd-skipped related transciption factor 2 ENCODES a protein that exhibits DNA-binding transcription repressor activity, RNA polymerase II-specific (ortholog); sequence-specific double-stranded DNA binding (ortholog); INVOLVED IN cell population proliferation (ortholog); embryonic skeletal system morphogenesis (ortholog); negative regulation of transcription by RNA polymerase II (ortholog); ASSOCIATED WITH Cohen syndrome (ortholog); endometriosis (ortholog); genetic disease (ortholog); FOUND IN nucleus (inferred) 8 8 8 91837037 91844694 + 97768980 97776663 + 95590753 95598491 + 30032202 100992906 A0A2R9ANS7;A0A2R9ANS9;A0A2R9ASN2 MODEL JARIFH010000009;XM_003821694;XM_008975175;XM_024929782;XM_034966413;XM_034966414;XM_034966415;XM_034966416;XM_055116768;XM_055116769;XM_055116770 XP_054972743;XP_054972744;XP_054972745 A0A2R9ANS9 odd-skipped related 2 protein-coding ENSPPAG00000032547 8 97768980 97776669 + 11690167 LOC100994017 inorganic pyrophosphatase-like ENCODES a protein that exhibits hydrolase activity (inferred); inorganic diphosphate phosphatase activity (inferred); magnesium ion binding (inferred); INVOLVED IN phosphate-containing compound metabolic process (inferred); FOUND IN cytoplasm (inferred) 5 5 5 166252497 166254573 + 175238285 175239219 + 168328211 168329707 + 22301074;30032202 100994017 A0A2R9CH95 MODEL JARIFH010000006;XM_008966602 XP_008964850 A0A2R9CH95 protein-coding ENSPPAG00000043282 11690172 LOC100994194 heterogeneous nuclear ribonucleoprotein A1-like 2B 2B 2B 76989442 76990508 - 179042755 179043717 - 61587150 61588216 - 100994194 MODEL JARIFH010000003 pseudo 11690177 LOC100995547 putative uncharacterized protein FLJ46214 16 16 16 7359274 7359915 + 3150222 3150863 + 1977949 1978590 + 100995547 MODEL JARIFH010000017;XM_008962738 XP_008960986 protein-coding 11690180 PHLDA1 pleckstrin homology like domain family A member 1 ENCODES a protein that exhibits phosphatidylinositol phosphate binding (inferred); INVOLVED IN FasL biosynthetic process (ortholog); forebrain neuron differentiation (ortholog); positive regulation of apoptotic process (ortholog); ASSOCIATED WITH allergic contact dermatitis (ortholog); atrial fibrillation (ortholog); cognitive disorder (ortholog); FOUND IN cytoplasm (inferred); nucleolus (inferred); nucleoplasm (inferred) 12 12 12 84043050 84056634 - 76382220 76390462 - 73530456 73543951 - 30032202 100995875 A0A2R9AHI9 MODEL JARIFH010000013;XM_024931192;XM_055095923 XP_054951898 A0A2R9AHI9 pleckstrin homology-like domain family A member 1 protein-coding ENSPPAG00000030521 12 76387313 76388502 - 11690187 LOC103783195 uncharacterized LOC103783195 10 10 10 23316711 23332070 - 10778875 10789856 - 10793392 10805607 - 103783195 MODEL JARIFH010000011;XR_004664507;XR_004664509;XR_008619879;XR_008619880 ncrna 11690231 SUZ12 SUZ12 polycomb repressive complex 2 subunit ENCODES a protein that exhibits chromatin binding (ortholog); chromatin DNA binding (ortholog); enzyme activator activity (ortholog); INVOLVED IN cell population proliferation (ortholog); chromatin organization (ortholog); facultative heterochromatin formation (ortholog); ASSOCIATED WITH adenoma (ortholog); cerebral palsy (ortholog); Developmental Disabilities (ortholog); FOUND IN chromatin silencing complex (ortholog); ESC/E(Z) complex (ortholog); nuclear body (ortholog) 17 17 17 34351660 34415575 - 25559017 25586616 - 24790921 24853790 - 30032202 103785028 A0A2R8ZHY8 MODEL JARIFH010000018;XM_034943240;XM_034943241 XP_034799131;XP_034799132 A0A2R8ZHY8 LOC103785028 SUZ12, polycomb repressive complex 2 subunit;polycomb protein SUZ12;uncharacterized LOC103785028 APPROVED protein-coding ENSPPAG00000018380 11690241 LOC103786819 ras GTPase-activating protein-binding protein 1-like 2B 2B 2B 39434900 39437885 + 139583238 139584635 - 24350842 24353924 + 103786819 MODEL JARIFH010000003 ras GTPase-activating protein-binding protein 1 pseudogene APPROVED pseudo 11690242 PLPP6 phospholipid phosphatase 6 ENCODES a protein that exhibits isoprenoid diphosphate phosphatase activity (ortholog); lipid phosphatase activity (ortholog); lysophosphatidic acid phosphatase activity (ortholog); INVOLVED IN farnesyl diphosphate catabolic process (ortholog); geranyl diphosphate metabolic process (ortholog); geranylgeranyl diphosphate catabolic process (ortholog); ASSOCIATED WITH chromosome 9p deletion syndrome (ortholog); genetic disease (ortholog); FOUND IN endoplasmic reticulum membrane (ortholog); nuclear membrane (ortholog) 9 9 9 119900131 119903215 - 4682531 4685484 + 4494408 4497405 + 30032202 103786928 MODEL JARIFH010000010;XM_024930068 XP_024785836 polyisoprenoid diphosphate/phosphate phosphohydrolase PLPP6;presqualene diphosphate phosphatase protein-coding 11690260 LOC106635332 endogenous retrovirus group K member 10 Np9 protein-like 1 1 1 98944940 98956574 - 129629976 129640944 + 125980983 125991908 + 106635332 MODEL JARIFH010000001;XM_014347079;XM_034934831;XM_034934832;XM_055101747;XR_001338694 XP_014202565;XP_034790723;XP_054957722 arginine-fifty homeobox-like;uncharacterized protein LOC106635332 protein-coding 11690268 PPP1R12C protein phosphatase 1 regulatory subunit 12C ENCODES a protein that exhibits phosphatase regulator activity (inferred); protein kinase binding (inferred); INVOLVED IN signal transduction (inferred); ASSOCIATED WITH genetic disease (ortholog); FOUND IN cytoplasm (inferred); stress fiber (inferred) 19 19 19 62952974 62982300 - 60822882 60846106 - 52129038 52158078 - 22301074;30032202 100967966 A0A2R9C937;A0A2R9CBW3 MODEL JARIFH010000020;XM_034944330;XM_034944331 XP_034800221;XP_034800222 A0A2R9CBW3 protein-coding ENSPPAG00000041929 19 60822882 60846795 - 11690297 LOC100968163 zona pellucida sperm-binding protein 3 receptor-like 1 1 1 42156821 42179466 - 187042376 187065065 + 182764371 182787115 + 30032202 100968163 A0A2R8ZDJ2 MODEL JARIFH010000001;XM_008976678 XP_008974926 A0A2R8ZDJ2 protein-coding ENSPPAG00000002859 11690310 LRRC63 leucine rich repeat containing 63 13 13 36168504 36234404 - 26754849 26820720 - 22301074 100969308 A0A2R9AIK6;A0A2R9AJF9;A0A2R9AJG7;A0A2R9ANE3;A0A2R9ANF3 MODEL JARIFH010000014;XM_034936703;XM_055096730 XP_034792594;XP_054952705 A0A2R9ANE3 leucine-rich repeat-containing protein 63 protein-coding ENSPPAG00000031676 11690311 GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 ENCODES a protein that exhibits carbohydrate binding (inferred); glycosyltransferase activity (inferred); polypeptide N-acetylgalactosaminyltransferase activity (inferred); INVOLVED IN protein glycosylation (inferred); protein O-linked glycosylation (inferred); ASSOCIATED WITH Attenuated Adenomatous Polyposis Coli (ortholog); Breast Neoplasms (ortholog); colorectal cancer (ortholog); FOUND IN Golgi apparatus (inferred); Golgi membrane (inferred); membrane (inferred) 9 9 9 40609621 40652088 - 98017258 98059124 + 69897793 69940252 + 30032202 100970451 A0A2R9AU98 MODEL JARIFH010000010;XM_034967869 XP_034823760 A0A2R9AU98 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) protein-coding ENSPPAG00000033671 9 98017161 98058135 + 11690337 GATA3 GATA binding protein 3 ENCODES a protein that exhibits DNA-binding transcription factor activity (ortholog); histone methyltransferase binding (ortholog); identical protein binding (ortholog); INVOLVED IN anatomical structure formation involved in morphogenesis (ortholog); aortic valve morphogenesis (ortholog); axon guidance (ortholog); PARTICIPATES IN interleukin-27 signaling pathway; Notch signaling pathway; ASSOCIATED WITH acute lymphoblastic leukemia (ortholog); adult T-cell leukemia/lymphoma (ortholog); Animal Mammary Neoplasms (ortholog); FOUND IN chromatin (inferred); nucleoplasm (inferred); nucleus (inferred) 10 10 10 20608666 20629453 + 8055853 8086271 + 8075951 8105573 + 22301074;30032202 100971194 A0A2R8ZRJ9 MODEL JARIFH010000011;XM_003827806;XM_008953129;XM_008953130;XM_008953131 XP_003827854;XP_008951379 A0A2R8ZRJ9 trans-acting T-cell-specific transcription factor GATA-3 protein-coding ENSPPAG00000026896 10 8064207 8086272 + 11690355 LOC100971990 uncharacterized LOC100971990 7 7 7 31140222 31149495 + 146743049 146752346 + 134272677 134281935 + 30032202 100971990 MODEL JARIFH010000008;XM_003812435 XP_003812483 LOC100988366 T cell receptor beta variable 4-2-like;uncharacterized LOC100988366;uncharacterized protein LOC100971990;uncharacterized protein LOC100988366 PROVISIONAL protein-coding 11690361 TERF1 telomeric repeat binding factor 1 ENCODES a protein that exhibits ankyrin repeat binding (ortholog); DNA binding, bending (ortholog); G-rich strand telomeric DNA binding (ortholog); INVOLVED IN meiotic telomere clustering (ortholog); negative regulation of DNA replication (ortholog); negative regulation of establishment of protein localization to telomere (ortholog); ASSOCIATED WITH breast cancer (ortholog); genetic disease (ortholog); squamous cell carcinoma (ortholog); FOUND IN fibrillar center (ortholog); nuclear body (ortholog); nuclear telomere cap complex (ortholog) 8 8 8 64383202 64422226 + 71192716 71231648 + 69545115 69583997 + 22301074 100972138 A0A2R9BDB3;A0A2R9BH77 MODEL JARIFH010000009;XM_008956694;XM_014345953 XP_008954942;XP_014201439 A0A2R9BDB3 telomeric repeat-binding factor 1 protein-coding ENSPPAG00000036878 11690385 KCNA3 potassium voltage-gated channel subfamily A member 3 ENCODES a protein that exhibits delayed rectifier potassium channel activity (ortholog); outward rectifier potassium channel activity (ortholog); voltage-gated potassium channel activity (ortholog); INVOLVED IN corpus callosum development (ortholog); optic nerve development (ortholog); potassium ion transmembrane transport (ortholog); ASSOCIATED WITH autistic disorder (ortholog); Developmental Disabilities (ortholog); genetic disease (ortholog); FOUND IN axon (ortholog); calyx of Held (ortholog); glutamatergic synapse (ortholog) 1 1 1 115513619 115531881 + 127021508 127042481 + 113304340 113323367 - 22301074;30032202 100973252 MODEL JARIFH010000001;XM_008962996;XM_034933398 XP_008961244;XP_034789289 potassium voltage-gated channel, shaker-related subfamily, member 3 protein-coding 11690392 ADCYAP1 adenylate cyclase activating polypeptide 1 ENCODES a protein that exhibits pituitary adenylate cyclase-activating polypeptide receptor binding (ortholog); INVOLVED IN behavioral fear response (ortholog); cellular response to glucocorticoid stimulus (ortholog); histamine secretion (ortholog); ASSOCIATED WITH acute necrotizing pancreatitis (ortholog); autistic disorder (ortholog); Brain Injuries (ortholog); FOUND IN extracellular space (ortholog); terminal bouton (ortholog) 18 18 18 23283967 23290652 - 15712078 15718693 - 13414618 13421668 - 22301074;30032202 100973430 A0A2R9AJZ0 MODEL JARIFH010000019;XM_003817884;XM_034943537;XM_034943538;XM_034943539;XM_057300398;XM_057300399 XP_003817932;XP_034799428;XP_057156381;XP_057156382 A0A2R9AJZ0 pituitary adenylate cyclase-activating polypeptide protein-coding ENSPPAG00000031943 18 15713479 15717749 - 11690402 EXOC1L exocyst complex component 1 like 4 4 4 74153524 74171478 - 74659663 74677206 - 68091792 68109741 - 100974251 A0A2R9A0B3 MODEL JARIFH010000005;XM_003806502;XM_034958792 XP_003806550;XP_034814683 A0A2R9A0B3 LOC100974251 exocyst complex component 1-like APPROVED protein-coding ENSPPAG00000028553 4 74659694 74677067 - 11690407 PLXNA4 plexin A4 ENCODES a protein that exhibits semaphorin receptor activity (inferred); INVOLVED IN anterior commissure morphogenesis (ortholog); axon guidance (ortholog); branchiomotor neuron axon guidance (ortholog); ASSOCIATED WITH genetic disease (ortholog); pleomorphic xanthoastrocytoma (ortholog); FOUND IN cerebellar climbing fiber to Purkinje cell synapse (ortholog) 7 7 7 20964479 21489269 - 136607795 137059706 - 124097028 124621504 - 22301074;30032202 100974529 A0A2R9AWF1;A0A2R9B261 MODEL JARIFH010000008;XM_003813461;XM_034965007;XM_034965008;XM_034965009;XM_057302763;XM_057302764 XP_003813509;XP_034820898;XP_057158746;XP_057158747 A0A2R9B261 plexin-A4 protein-coding ENSPPAG00000033968 7 136643657 136992405 - 11690443 MED29 mediator complex subunit 29 PARTICIPATES IN RNA polymerase II transcription pathway; ASSOCIATED WITH genetic disease (ortholog); maturity-onset diabetes of the young type 1 (ortholog); type 2 diabetes mellitus (ortholog); FOUND IN core mediator complex (ortholog) 19 19 19 47557381 47566594 + 45037266 45046717 + 36489459 36498838 + 22301074;30032202 100975169 A0A2R9BCU4;A0A2R9BE52 MODEL JARIFH010000020;XM_003812243;XM_024926811 XP_003812291;XP_024782579 A0A2R9BE52 mediator of RNA polymerase II transcription subunit 29 protein-coding ENSPPAG00000036805 19 45037228 45046717 + 11690451 ACSL1 acyl-CoA synthetase long chain family member 1 ENCODES a protein that exhibits arachidonate-CoA ligase activity (ortholog); long-chain fatty acid-CoA ligase activity (ortholog); oleoyl-CoA ligase activity (ortholog); INVOLVED IN adiponectin-activated signaling pathway (ortholog); fatty acid metabolic process (ortholog); fatty acid transport (ortholog); PARTICIPATES IN adrenoleukodystrophy pathway; carnitine palmitoyltransferase I deficiency pathway; carnitine-acylcarnitine translocase deficiency; ASSOCIATED WITH Animal Mammary Neoplasms (ortholog); carcinoma (ortholog); Chemical and Drug Induced Liver Injury (ortholog); FOUND IN mitochondrial outer membrane (ortholog); peroxisomal membrane (ortholog) 4 4 4 182841132 182912587 - 189145403 189216458 - 176920811 176991495 - 30032202 100976380 A0A2R9B702;A0A2R9B8E0;A0A2R9B8F2;A0A2R9B8F6;A0A2R9B8H0 MODEL JARIFH010000005;XM_003823467;XM_008977122;XM_008977123;XM_034959490;XM_034959491;XM_034959492;XM_034959493;XM_034959494;XM_034959495;XM_034959496;XM_055112048;XM_055112049;XM_055112050;XM_055112051;XM_055112052;XM_055112053;XM_055112054;XM_055112055;XM_055112056 XP_003823515;XP_008975370;XP_008975371;XP_034815381;XP_034815384;XP_034815385;XP_054968023;XP_054968024;XP_054968025;XP_054968026;XP_054968027;XP_054968028;XP_054968029;XP_054968030;XP_054968031 A0A2R9B8E0 acyl-CoA synthetase long-chain family member 1;long-chain-fatty-acid--CoA ligase 1 APPROVED protein-coding ENSPPAG00000035756 4 189145403 189198646 - 11690494 LOC100976667 olfactory receptor 2L8-like ENCODES a protein that exhibits G protein-coupled receptor activity (inferred); olfactory receptor activity (inferred); INVOLVED IN detection of chemical stimulus involved in sensory perception of smell (inferred); G protein-coupled receptor signaling pathway (inferred); sensory perception of smell (inferred); FOUND IN membrane (inferred); plasma membrane (inferred) 1 1 1 1371193 1372131 - 229040556 229041495 + 223592187 223593224 + 22301074 100976667 A0A2R9AAT7 MODEL JARIFH010000001;XM_034950641 XP_034806532 A0A2R9AAT7 protein-coding ENSPPAG00000030341 11690496 LOC100978550 26S proteasome non-ATPase regulatory subunit 10-like 13 13 13 73209594 73234045 + 73042650 73066159 + 54267692 54291592 + 100978550 MODEL JARIFH010000014 26S proteasome non-ATPase regulatory subunit 10 pseudogene APPROVED pseudo 11690497 TEX38 testis expressed 38 ASSOCIATED WITH genetic disease (ortholog); FOUND IN membrane (inferred) 1 1 1 179258603 179279551 - 47326627 47330823 + 45971360 45977476 + 100980019 A0A2R9AXW2 MODEL JARIFH010000001;XM_003812735;XM_008965189;XM_008965190 XP_003812783 A0A2R9AXW2 ATPAF1-AS1 ATPAF1 antisense RNA 1 (non-protein coding);testis-expressed protein 38 protein-coding ENSPPAG00000034178 1 47329061 47330808 + 11690513 PLA2G3 phospholipase A2 group III ENCODES a protein that exhibits calcium-dependent phospholipase A2 activity (inferred); phospholipase A2 activity (inferred); phospholipase activity (inferred); INVOLVED IN acrosome assembly (ortholog); cell development (ortholog); cell maturation (ortholog); ASSOCIATED WITH genetic disease (ortholog); FOUND IN centriole (inferred); extracellular region (inferred); recycling endosome (inferred) 22 22 22 43788928 43799272 - 29995364 30001160 - 12158589 12164441 - 22301074 100980595 A0A2R9A6K1 MODEL JARIFH010000023;XM_003826929;XM_055105774;XR_001337630 XP_003826977;XP_054961749 A0A2R9A6K1 group 3 secretory phospholipase A2 protein-coding ENSPPAG00000029623 22 29995364 30001160 - 11690528 YARS1 tyrosyl-tRNA synthetase 1 ENCODES a protein that exhibits aminoacyl-tRNA ligase activity (inferred); ATP binding (inferred); ligase activity (inferred); INVOLVED IN response to starvation (inferred); translation (inferred); tRNA aminoacylation for protein translation (inferred); PARTICIPATES IN phenylketonuria pathway; tyrosinemia type II pathway; tyrosinemia type III pathway; ASSOCIATED WITH Agenesis of Corpus Callosum (ortholog); Charcot-Marie-Tooth disease (ortholog); Charcot-Marie-Tooth disease dominant intermediate C (ortholog); FOUND IN cytoplasm (ortholog); cytosol (ortholog); nucleus (ortholog) 1 1 1 193126810 193166838 + 33232163 33295347 - 32068202 32108664 - 22301074;30032202 100981833 A0A2R9BAS4;A0A2R9BEC7 MODEL JARIFH010000001;XM_003812532 XP_003812580 A0A2R9BEC7 LOC100979224;LOC100981833;YARS tyrosine--tRNA ligase, cytoplasmic;tyrosine--tRNA ligase, cytoplasmic-like;tyrosyl-tRNA synthetase APPROVED protein-coding ENSPPAG00000035791 1 33232905 33294558 - 11690540 MPP4 MAGUK p55 scaffold protein 4 ENCODES a protein that exhibits signaling receptor binding (ortholog); INVOLVED IN protein localization to synapse (ortholog); ASSOCIATED WITH autoimmune lymphoproliferative syndrome type 2B (ortholog); Autoimmune Lymphoproliferative Syndrome, Type V (ortholog); common variable immunodeficiency 1 (ortholog); FOUND IN basal part of cell (ortholog); cone cell pedicle (ortholog); Golgi membrane (ortholog) 2B 2B 2B 104282562 104331984 - 207052927 207102360 - 88898091 88951597 - 22301074;30032202 100982114 A0A2R9B6P1;A0A2R9B850;A0A2R9BDT4;A0A2R9BDT9 MODEL JARIFH010000003;XM_008974194 XP_008972442 A0A2R9BDT4 MAGUK p55 subfamily member 4;membrane palmitoylated protein 4 APPROVED protein-coding ENSPPAG00000035730 2B 207053077 207102360 - 11690564 LOC100982281 60S ribosomal protein L13a-like ENCODES a protein that exhibits structural constituent of ribosome (inferred); INVOLVED IN regulation of translation (inferred); translation (inferred); FOUND IN large ribosomal subunit (inferred); ribonucleoprotein complex (inferred); ribosome (inferred) 13 13 13 54427342 54430960 - 54283289 54283959 - 35478923 35479647 - 22301074;30032202 100982281 A0A2R8ZSJ7 MODEL JARIFH010000014;XM_034936770;XM_055096825 XP_054952800 A0A2R8ZSJ7 60S ribosomal protein L13a pseudogene APPROVED protein-coding ENSPPAG00000023659 11690567 TSR1 TSR1 ribosome maturation factor INVOLVED IN ribosome biogenesis (inferred); ASSOCIATED WITH genetic disease (ortholog); Neurodevelopmental Disorders (ortholog); primary microcephaly (ortholog); FOUND IN nucleolus (inferred); nucleus (inferred) 17 17 17 11871780 11884716 - 2198132 2213193 - 2314567 2328518 - 22301074;30032202 100983887 A0A2R9BAB2 MODEL JARIFH010000018;XM_003816862 XP_003816910 A0A2R9BAB2 TSR1, ribosome maturation factor;pre-rRNA-processing protein TSR1 homolog APPROVED protein-coding ENSPPAG00000036355 17 2199023 2213193 - 11690586 SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase ENCODES a protein that exhibits hydrolase activity (inferred); myosin phosphatase activity (inferred); phosphoprotein phosphatase activity (inferred); INVOLVED IN mRNA polyadenylation (inferred); mRNA processing (inferred); regulation of transcription by RNA polymerase II (inferred); PARTICIPATES IN RNA polymerase II transcription pathway; ASSOCIATED WITH chromosome 1p36 deletion syndrome (ortholog); congenital myasthenic syndrome 8 (ortholog); dilated cardiomyopathy 1LL (ortholog); FOUND IN cytosol (inferred); nucleoplasm (inferred); nucleus (inferred) 1 1 1 225302969 225336524 + 1463184 1494797 - 301984 335634 - 22301074;30032202 100986039 A0A2R9BLM3 MODEL JARIFH010000001;XM_014344630 XP_014200116 A0A2R9BLM3 RNA polymerase II subunit A C-terminal domain phosphatase SSU72;SSU72 RNA polymerase II CTD phosphatase homolog protein-coding ENSPPAG00000038268 1 1463184 1494797 - 11690595 FCN3 ficolin 3 ENCODES a protein that exhibits carbohydrate derivative binding (ortholog); identical protein binding (ortholog); INVOLVED IN complement activation, lectin pathway (ortholog); ASSOCIATED WITH genetic disease (ortholog); hepatocellular carcinoma (ortholog); Immunodeficiency due to Ficolin 3 Deficiency (ortholog); FOUND IN serine-type endopeptidase complex (ortholog) 1 1 1 198589723 198615789 + 27676740 27683889 - 26620373 26636424 - 30032202 100986049 A0A2R9BK12;A0A2R9BKU3 MODEL JARIFH010000001;XM_003809479;XM_024927012;XM_034959187 XP_003809527 A0A2R9BK12 LOC100978556;LOC100986049 ficolin (collagen/fibrinogen domain containing) 3 (Hakata antigen);ficolin-3;ficolin-3-like PROVISIONAL protein-coding ENSPPAG00000038009 1 27676866 27683861 - 11690604 LOC100986625 U1 small nuclear ribonucleoprotein C-like 5 5 5 37080982 37081461 - 39542899 39543378 - 38926437 38926916 - 100986625 MODEL JARIFH010000006 U1 small nuclear ribonucleoprotein C pseudogene APPROVED pseudo 11690605 SDC4 syndecan 4 ENCODES a protein that exhibits fibronectin binding (ortholog); protein kinase C binding (ortholog); INVOLVED IN inner ear receptor cell stereocilium organization (ortholog); neural tube closure (ortholog); positive regulation of focal adhesion assembly (ortholog); PARTICIPATES IN syndecan signaling pathway; ASSOCIATED WITH bacterial infectious disease (ortholog); COVID-19 (ortholog); focal epilepsy (ortholog); FOUND IN cell surface (ortholog); costamere (ortholog); focal adhesion (ortholog) 20 20 20 51052007 51075147 - 42746597 42769736 - 41656406 41679549 - 30032202 100987975 A0A2R8ZRB4;A0A2R8ZSI0;A0A2R8ZX49 MODEL JARIFH010000021;XM_003825958 XP_003826006 A0A2R8ZRB4 syndecan-4 protein-coding ENSPPAG00000026773 20 42746281 42769737 - 11690614 MAGOHB mago homolog B, exon junction complex subunit INVOLVED IN mRNA splicing, via spliceosome (inferred); nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (inferred); RNA splicing (inferred); PARTICIPATES IN spliceosome pathway; ASSOCIATED WITH genetic disease (ortholog); ovarian cyst (ortholog); FOUND IN exon-exon junction subcomplex mago-y14 (ortholog); neuronal cell body (ortholog) 12 12 12 16071759 16079346 - 10898453 10906029 - 10632174 10639758 - 22301074;30032202 100988107 A0A2R9B8L0;A0A2R9B8L7;A0A2R9BCC0 MODEL JARIFH010000013;XM_034935356;XM_034935357;XM_034935358;XM_034935359 XP_034791247;XP_034791248;XP_034791249;XP_034791250 A0A2R9B8L7 mago homolog B, exon junction complex core component;mago-nashi homolog B APPROVED protein-coding ENSPPAG00000036075 12 10898716 10905958 - 11690623 ATOX1 antioxidant 1 copper chaperone ENCODES a protein that exhibits ATPase binding (ortholog); INVOLVED IN copper ion export (ortholog); copper ion transport (ortholog); intracellular copper ion homeostasis (ortholog); PARTICIPATES IN cisplatin drug pathway; ASSOCIATED WITH amyotrophic lateral sclerosis (ortholog); Chronic Hepatitis (ortholog); Colorectal Neoplasms (ortholog) 5 5 5 145111134 145126336 - 153169467 153184505 - 147166744 147181970 - 22301074;30032202 100988431 A0A2R9CB70;A0A2R9CDW9 MODEL JARIFH010000006;XM_003828987 XP_003829035 A0A2R9CDW9 ATX1 antioxidant protein 1 homolog;copper transport protein ATOX1 protein-coding ENSPPAG00000042315 5 153169467 153184505 - 11690631 RNF26 ring finger protein 26 ENCODES a protein that exhibits metal ion binding (inferred); ubiquitin protein ligase activity (inferred); INVOLVED IN endosome organization (inferred); negative regulation of defense response to virus (inferred); protein K11-linked ubiquitination (inferred); ASSOCIATED WITH CD3epsilon deficiency (ortholog); Chromosome 11, Partial Trisomy 11q (ortholog); Dwarfism (ortholog); FOUND IN endoplasmic reticulum membrane (ortholog) 11 11 11 121145774 121148583 + 118102883 118105698 + 114175586 114178379 + 30032202 100988478 A0A2R8ZGI8 MODEL JARIFH010000012;XM_003819994 XP_003820042 A0A2R8ZGI8 E3 ubiquitin-protein ligase RNF26 protein-coding ENSPPAG00000017505 11 118103505 118104806 + 11690645 SLC45A4 solute carrier family 45 member 4 ENCODES a protein that exhibits sucrose:proton symporter activity (inferred); INVOLVED IN sucrose transport (ortholog); ASSOCIATED WITH genetic disease (ortholog); FOUND IN membrane (inferred) 8 8 8 134112108 134236388 - 140966259 141064663 - 137882787 137984483 - 22301074;30032202 100989607 A0A2R9A4D9;A0A2R9A8L1 MODEL JARIFH010000009;XM_034966715;XM_034966716;XM_034966718;XM_057303098;XM_057303099;XR_008955902 XP_034822606;XP_034822607;XP_034822609;XP_057159081;XP_057159082 A0A2R9A4D9 protein-coding ENSPPAG00000029066 8 140969934 141012735 - 11690669 CD48 CD48 molecule INVOLVED IN mast cell activation (ortholog); signal transduction (ortholog); T cell activation (ortholog); ASSOCIATED WITH autoimmune interstitial lung, joint, and kidney disease (ortholog); Experimental Liver Cirrhosis (ortholog); gastrointestinal stromal tumor (ortholog); FOUND IN external side of plasma membrane (ortholog); protein-containing complex (ortholog) 1 1 1 88878472 88911732 + 139956862 139990082 - 136034278 136067533 - 100990343 A0A2R9BPM9;A0A2R9BYM8 MODEL JARIFH010000001;XM_003811871;XM_008964264 XP_003811919;XP_008962512 A0A2R9BPM9 CD48 antigen protein-coding ENSPPAG00000038743 1 139956862 139990082 - 11690696 LOC100991714 keratin-associated protein 19-5 FOUND IN intermediate filament (inferred) 21 21 21 21496097 21498155 - 30274597 30275045 - 16890089 16891742 - 100991714 A0A2R9ALW7 MODEL JARIFH010000022;XM_034947961 XP_034803852 A0A2R9ALW7 protein-coding ENSPPAG00000032202 21 30274806 30275024 - 11690701 RASGRP2 RAS guanyl releasing protein 2 ENCODES a protein that exhibits calcium ion binding (inferred); guanyl-nucleotide exchange factor activity (inferred); metal ion binding (inferred); INVOLVED IN cellular response to calcium ion (inferred); small GTPase mediated signal transduction (inferred); ASSOCIATED WITH genetic disease (ortholog); hemorrhagic disease (ortholog); high grade glioma (ortholog); FOUND IN cytosol (inferred); plasma membrane (inferred) 11 11 11 66995154 67014774 - 63423112 63443240 - 60081781 60101400 - 22301074;30032202 100993077 A0A2R9BV52;A0A2R9BVS5 MODEL JARIFH010000012;XM_003828579;XM_003828580;XM_008953996;XM_008953997;XM_008953998;XM_008953999;XM_008954000;XM_034932939;XM_034932940;XM_055094471;XM_055094472 XP_003828627;XP_008952244;XP_008952245;XP_008952246;XP_008952247;XP_008952248;XP_034788830;XP_034788831;XP_054950446;XP_054950447 A0A2R9BV52 RAS guanyl-releasing protein 2 protein-coding ENSPPAG00000039616 11 63423112 63440917 - 11690744 ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 ASSOCIATED WITH Dwarfism (ortholog); epilepsy (ortholog); genetic disease (ortholog); FOUND IN cilium (inferred); cytoplasm (inferred) 16 16 16 9015351 9053705 - 4788093 4822178 - 3621185 3659570 - 22301074;30032202 100993807 A0A2R9BSC3;A0A2R9BSE1;A0A2R9BV76;A0A2R9C0N4;A0A2R9C0R4;A0A2R9C0S7 MODEL JARIFH010000017;XM_014341655;XM_034939720;XM_034939721;XM_034939722;XM_034939723;XM_034939724;XM_034939726;XM_034939727;XM_055099885;XM_055099886;XM_055099887 XP_014197141;XP_034795611;XP_034795612;XP_034795613;XP_034795615;XP_034795618;XP_054955860;XP_054955861;XP_054955862 A0A2R9C0R4 ankyrin repeat and SAM domain-containing protein 3 protein-coding ENSPPAG00000039039 16 4788093 4820760 - 11690786 LSM6 LSM6 homolog, U6 small nuclear RNA and mRNA degradation associated ENCODES a protein that exhibits protein heterodimerization activity (inferred); RNA binding (inferred); INVOLVED IN mRNA catabolic process (ortholog); PARTICIPATES IN spliceosome pathway; ASSOCIATED WITH genetic disease (ortholog); methylmalonic acidemia cblA type (ortholog); FOUND IN U4/U6 x U5 tri-snRNP complex (ortholog) 4 4 4 144412620 144426868 + 150171597 150185947 + 138514194 138528575 + 22301074;30032202 100994728 A0A2R9BKB2 MODEL JARIFH010000005;XM_008968870;XM_008968871;XM_008968872;XM_034959213;XM_034959214 XP_008967118;XP_008967120;XP_034815104;XP_034815105 A0A2R9BKB2 LSM6 homolog, U6 small nuclear RNA associated;U6 snRNA-associated Sm-like protein LSm6 protein-coding ENSPPAG00000037929 4 150171648 150185947 + 11690806 ATP11B ATPase phospholipid transporting 11B (putative) ENCODES a protein that exhibits ATP binding (inferred); ATP hydrolysis activity (inferred); ATPase-coupled intramembrane lipid transporter activity (inferred); INVOLVED IN lipid translocation (inferred); lipid transport (inferred); phospholipid transport (inferred); ASSOCIATED WITH Currarino syndrome (ortholog); genetic disease (ortholog); FOUND IN phospholipid-translocating ATPase complex (ortholog) 3 3 3 180664448 180793637 + 188022550 188117011 + 179824180 179953379 + 22301074;30032202 100994939 A0A2R9C3I1 MODEL JARIFH010000004;XM_034957769;XM_034957771;XM_034957772;XM_034957773;XM_034957774;XM_034957775 XP_034813660;XP_034813662;XP_034813663;XP_034813664 A0A2R9C3I1 phospholipid-transporting ATPase IF;probable phospholipid-transporting ATPase IF protein-coding ENSPPAG00000039428 3 188022545 188123414 + 11690846 HADH hydroxyacyl-CoA dehydrogenase ENCODES a protein that exhibits 3-hydroxyacyl-CoA dehydrogenase activity (ortholog); identical protein binding (ortholog); INVOLVED IN fatty acid beta-oxidation (ortholog); negative regulation of insulin secretion (ortholog); response to activity (ortholog); PARTICIPATES IN 2-aminoadipic 2-oxoadipic aciduria pathway; 3-hydroxyacyl-CoA dehydrogenase deficiency pathway; butanoate metabolic pathway; ASSOCIATED WITH 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (ortholog); Congenital Hyperinsulinism (ortholog); diabetes mellitus (ortholog); FOUND IN cytoplasm (ortholog); nucleoplasm (ortholog) 4 4 4 106383480 106428851 + 111067537 111112945 + 100495205 100540589 + 22301074;30032202 100995262 A0A2R9AXU4;A0A2R9AXU9;A0A2R9AY40;A0A2R9B3U6 MODEL JARIFH010000005;XM_003829995 XP_003830043 A0A2R9AXU4 hydroxyacyl-coenzyme A dehydrogenase, mitochondrial protein-coding ENSPPAG00000034253 4 111067336 111113868 + 11690858 LOC100995520 28S ribosomal protein S33, mitochondrial-like 4 4 4 38387280 38392330 - 38189282 38189600 - 32334899 32335448 - 100995520 MODEL JARIFH010000005 pseudo 11690859 LOC100995677 26S proteasome regulatory subunit 10B-like ENCODES a protein that exhibits ATP binding (inferred); ATP hydrolysis activity (inferred); identical protein binding (inferred); FOUND IN nucleus (inferred); proteasome complex (inferred) 8 8 8 47432276 47433782 - 49866925 49868422 - 52496558 52508697 - 22301074;30032202 100995677 A0A2R9AVA9 MODEL JARIFH010000009;XM_034966116 XP_034822007 A0A2R9AVA9 26S protease regulatory subunit 10B pseudogene;26S proteasome regulatory subunit 10B pseudogene APPROVED protein-coding ENSPPAG00000000942;ENSPPAG00000033737 11690885 LOC103785461 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 3-like 1 1 1 23521216 23522654 - 206423455 206423708 + 201425444 201426103 + 103785461 MODEL JARIFH010000001 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 3 pseudogene APPROVED pseudo 11690886 LOC103786143 zinc finger protein 652-like 3 3 3 50774360 50785388 - 51952011 51953638 - 50714915 50717576 - 103786143 MODEL JARIFH010000004 zinc finger protein 652 pseudogene APPROVED pseudo 11690887 LOC103786390 protein SDA1 homolog 12 12 12 7226188 7249638 - 1756968 1787992 - 1806862 1809320 - 103786390 MODEL JARIFH010000013 APPROVED pseudo 11690888 LOC106634102 uncharacterized LOC106634102 19 19 19 37698276 37712278 + 35408126 35417548 + 26649548 26663034 + 106634102 MODEL JARIFH010000020;XR_004667955;XR_004667956;XR_004667957;XR_008622190;XR_008622191 ncrna 11690900 LOC106635002 cytochrome c, somatic-like 7 7 7 17935314 17936304 - 133595241 133595555 - 121072088 121072642 - 106635002 MODEL JARIFH010000008 cytochrome c, somatic pseudogene APPROVED pseudo 11690902 ZNF777 zinc finger protein 777 ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN negative regulation of cell population proliferation (inferred); negative regulation of DNA-templated transcription (inferred); protein heterooligomerization (inferred); ASSOCIATED WITH genetic disease (ortholog); FOUND IN nucleus (inferred) 7 7 7 38030098 38059539 - 153639560 153668723 - 141163479 141193859 - 30032202 100968369 A0A2R9AR00;A0A2R9AR05 MODEL JARIFH010000008;XM_034965182;XM_034965183 XP_034821073;XP_034821074 A0A2R9AR00 protein-coding ENSPPAG00000033110 7 153638402 153668717 - 11690913 LOC100968921 zinc finger protein 431 ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN regulation of DNA-templated transcription (inferred) 19 19 19 24777250 24819480 + 21427278 21467425 + 20346925 20389156 + 30032202 100968921 A0A2R9C1Y5;A0A2R9C4F6;A0A2R9C4G1 MODEL JARIFH010000020;XM_034944143 XP_034800034 A0A2R9C4G1 ZNF431 protein-coding ENSPPAG00000040663 11690922 SP5 Sp5 transcription factor ENCODES a protein that exhibits DNA-binding transcription repressor activity, RNA polymerase II-specific (inferred); RNA polymerase II transcription regulatory region sequence-specific DNA binding (inferred); sequence-specific DNA binding (inferred); INVOLVED IN bone morphogenesis (ortholog); cellular response to organic cyclic compound (ortholog); post-anal tail morphogenesis (ortholog); ASSOCIATED WITH genetic disease (ortholog); Prostatic Neoplasms (ortholog); split hand-foot malformation 5 (ortholog) 2B 2B 2B 73403824 73406912 + 175459656 175462341 + 58000430 58003659 + 30032202 100968982 A0A2R8Z5U1 MODEL JARIFH010000003;XM_008978030;XM_034954474 XP_008976278;XP_034810365 A0A2R8Z5U1 transcription factor Sp5 protein-coding ENSPPAG00000000279 11690928 PLPPR3 phospholipid phosphatase related 3 ASSOCIATED WITH cerebral creatine deficiency syndrome (ortholog); cyclic hematopoiesis (ortholog); genetic disease (ortholog) 19 19 19 4381214 4391015 - 780559 784980 - 309998 319779 + 30032202 100969621 MODEL JARIFH010000020;XM_034946332;XM_057300782 XP_057156765 lipid phosphate phosphatase-related protein type 3;phospholipid phosphatase-related protein type 3 protein-coding 11690937 LOC100970696 septin-7-like 7 7 7 98958211 98984843 - 46502322 46507240 - 46440040 46482503 - 30032202 100970696 MODEL JARIFH010000008;XM_034965451;XM_055115916;XR_008626229;XR_008626230;XR_008626231;XR_008626232;XR_008626233;XR_008626234 XP_034821342;XP_054971891 uncharacterized LOC100970696 APPROVED protein-coding 11690944 LOC100971371 olfactory receptor 5M9 ASSOCIATED WITH genetic disease (ortholog); intellectual disability (ortholog) 11 11 58640132 58641064 - 51707862 51708794 - 22301074;30032202 100971371 MODEL JARIFH010000012;XM_003806075 XP_003806123 protein-coding 11690945 VWA3A von Willebrand factor A domain containing 3A ASSOCIATED WITH autistic disorder (ortholog); chromosome 16p12.1 deletion syndrome (ortholog); genetic disease (ortholog) 16 16 16 27456711 27522802 + 22403709 22468186 + 16575765 16640697 - 100971393 A0A2R9AKU1;A0A2R9ALG7 MODEL JARIFH010000017;XM_024925940;XM_034939883;XM_034939884;XM_034939885;XM_034939886;XM_034939887;XM_034939888;XM_034939889;XM_034939890;XM_034939891;XM_034939892;XM_034939894;XM_034939895;XM_034939896;XM_034939897;XM_034939898;XM_055099917;XR_004666790;XR_004666791 XP_024781708;XP_034795774;XP_054955892 A0A2R9AKU1 von Willebrand factor A domain-containing protein 3A protein-coding ENSPPAG00000032106 16 22403518 22468186 + 11690984 TAF11 TATA-box binding protein associated factor 11 ENCODES a protein that exhibits DNA binding (inferred); nuclear thyroid hormone receptor binding (inferred); nuclear vitamin D receptor binding (inferred); INVOLVED IN mRNA transcription by RNA polymerase II (inferred); positive regulation by host of viral transcription (inferred); positive regulation of transcription initiation by RNA polymerase II (inferred); PARTICIPATES IN RNA polymerase II transcription initiation pathway; ASSOCIATED WITH genetic disease (ortholog); JMP syndrome (ortholog); FOUND IN transcription factor TFIID complex (ortholog) 6 6 6 45212460 45223742 - 35536614 35546805 - 34439369 34449501 - 22301074;30032202 100971864 A0A2R9C8S6;A0A2R9CGM7;A1YFX3;A1YFX4 MODEL DQ977169;JARIFH010000007;XM_003808534;XM_008960605 ABM54198;ABM54199;XP_003808582;XP_008958853 A0A2R9C8S6 transcription initiation factor TFIID subunit 11 protein-coding ENSPPAG00000041432 6 35536614 35546805 - 11690995 DNAH11 dynein axonemal heavy chain 11 ENCODES a protein that exhibits ATP binding (inferred); ATP hydrolysis activity (inferred); dynein intermediate chain binding (inferred); INVOLVED IN cardiac septum morphogenesis (ortholog); cilium movement (ortholog); determination of left/right asymmetry in nervous system (ortholog); ASSOCIATED WITH atrioventricular septal defect (ortholog); autism spectrum disorder (ortholog); cleft palate (ortholog); FOUND IN 9+0 motile cilium (inferred); 9+2 motile cilium (inferred); axoneme (inferred) 7 7 7 74731984 75089431 + 21540932 21897485 + 22228345 22585681 + 22301074;30032202 100973810 A0A2R9CJI9 MODEL JARIFH010000008;XM_034963785;XM_055115753 XP_054971728 A0A2R9CJI9 dynein heavy chain 11, axonemal protein-coding ENSPPAG00000043198 7 21540932 21897485 + 11691079 ATG3 autophagy related 3 ENCODES a protein that exhibits Atg12 transferase activity (ortholog); Atg8-family conjugating enzyme activity (ortholog); Atg8-family ligase activity (ortholog); INVOLVED IN autophagosome assembly (ortholog); autophagy (ortholog); macroautophagy (ortholog); PARTICIPATES IN autophagy pathway; ASSOCIATED WITH genetic disease (ortholog); FOUND IN Atg12-Atg5-Atg16 complex (ortholog); cytoplasm (ortholog); cytosol (ortholog) 3 3 3 110539768 110569070 - 116606467 116635209 - 109681163 109710835 - 30032202 100974819 MODEL JARIFH010000004;XM_003825094;XM_034957080 XP_003825142;XP_034812971 ubiquitin-like-conjugating enzyme ATG3 protein-coding 11691095 LOC100975722 E3 ubiquitin-protein ligase XIAP-like 10 10 10 121570028 121573782 + 109712999 109732183 + 106261426 106281232 + 100975722 MODEL JARIFH010000011 E3 ubiquitin-protein ligase XIAP pseudogene APPROVED pseudo 11691096 DKK1 dickkopf WNT signaling pathway inhibitor 1 ENCODES a protein that exhibits co-receptor binding (inferred); low-density lipoprotein particle receptor binding (inferred); receptor antagonist activity (inferred); INVOLVED IN canonical Wnt signaling pathway (ortholog); cell morphogenesis (ortholog); embryonic limb morphogenesis (ortholog); PARTICIPATES IN Wnt signaling, canonical pathway; ASSOCIATED WITH anodontia (ortholog); Bone Fractures (ortholog); Breast Neoplasms (ortholog); FOUND IN extracellular space (ortholog) 10 10 10 64615691 64619145 + 51084963 51088424 + 48950704 48953815 + 22301074;30032202 100975926 A0A2R9AYT8 MODEL JARIFH010000011;XM_003806334 XP_003806382 A0A2R9AYT8 dickkopf 1 homolog;dickkopf-related protein 1 protein-coding ENSPPAG00000034431 10 51084027 51089776 + 11691104 NFX1 nuclear transcription factor, X-box binding 1 ENCODES a protein that exhibits DNA-binding transcription factor activity (inferred); DNA-binding transcription repressor activity, RNA polymerase II-specific (inferred); metal ion binding (inferred); INVOLVED IN negative regulation of MHC class II biosynthetic process (ortholog); negative regulation of transcription by RNA polymerase II (ortholog); ASSOCIATED WITH acromesomelic dysplasia, Maroteaux type (ortholog); distal arthrogryposis type 1A (ortholog); frontotemporal dementia and/or amyotrophic lateral sclerosis-6 (ortholog); FOUND IN cytosol (inferred); nucleolus (inferred); nucleoplasm (inferred) 9 9 9 91238531 91321602 - 33876836 33959924 + 33068235 33149271 + 22301074;30032202 100976210 A0A2R8ZWK3;A0A2R8ZXQ4 MODEL JARIFH010000010;XM_003830122;XM_008955490;XM_008955491;XM_008955493;XM_055117322;XM_055117323;XM_055117324 XP_003830170;XP_008953738;XP_008953741;XP_054973297;XP_054973298;XP_054973299 A0A2R8ZWK3 transcriptional repressor NF-X1 protein-coding ENSPPAG00000027871 9 33876836 33959924 + 11691141 PRRG2 proline rich and Gla domain 2 ENCODES a protein that exhibits calcium ion binding (inferred); ASSOCIATED WITH developmental and epileptic encephalopathy 12 (ortholog); genetic disease (ortholog); FOUND IN extracellular region (inferred); membrane (inferred); plasma membrane (inferred) 19 19 19 57619731 57629319 + 55516413 55525229 + 46595628 46605897 + 22301074;30032202 100976772 A0A2R8ZAJ4 MODEL JARIFH010000020;XM_003814336;XM_034946293 XP_003814384 A0A2R8ZAJ4 transmembrane gamma-carboxyglutamic acid protein 2 protein-coding ENSPPAG00000009244 19 55516413 55525229 + 11691152 FOSL2 FOS like 2, AP-1 transcription factor subunit ENCODES a protein that exhibits DNA binding (ortholog); DNA-binding transcription factor activity (ortholog); double-stranded DNA binding (ortholog); INVOLVED IN alveolar secondary septum development (ortholog); B cell differentiation (ortholog); B cell proliferation (ortholog); ASSOCIATED WITH colon adenocarcinoma (ortholog); colorectal cancer (ortholog); genetic disease (ortholog); FOUND IN RNA polymerase II transcription regulator complex (ortholog) 2A 2A 2A 98100630 98125163 - 28485271 28498815 + 28392328 28416838 + 22301074;30032202 100977082 A0A2R8ZND5 MODEL JARIFH010000002;XM_034952867;XM_034952868 XP_034808758;XP_034808759 A0A2R8ZND5 fos-related antigen 2 protein-coding ENSPPAG00000025146 2A 28485613 28498397 + 11691167 FCHO2 FCH and mu domain containing endocytic adaptor 2 ENCODES a protein that exhibits identical protein binding (inferred); phosphatidylinositol binding (inferred); phosphatidylinositol-4,5-bisphosphate binding (inferred); INVOLVED IN clathrin coat assembly (inferred); clathrin-dependent endocytosis (inferred); membrane invagination (inferred); ASSOCIATED WITH genetic disease (ortholog); Neurodevelopmental Disorders (ortholog); FOUND IN clathrin-coated pit (ortholog); clathrin-coated vesicle (ortholog); presynaptic endocytic zone membrane (ortholog) 5 5 5 40378249 40519791 - 42822190 42958619 - 42223201 42361317 - 30032202 100979203 A0A2R8ZRZ7;A0A2R8ZS03;A0A2R8ZXT6 MODEL JARIFH010000006;XM_034959962;XM_055112318 XP_054968293 A0A2R8ZS03 F-BAR domain only protein 2;FCH domain only 2 APPROVED protein-coding ENSPPAG00000027023 5 42824621 42958565 - 11691197 IER3IP1 immediate early response 3 interacting protein 1 INVOLVED IN brain development (inferred); organ growth (inferred); positive regulation of extracellular matrix constituent secretion (inferred); ASSOCIATED WITH benign epilepsy with centrotemporal spikes (ortholog); epilepsy (ortholog); genetic disease (ortholog); FOUND IN endoplasmic reticulum (inferred); endoplasmic reticulum membrane (inferred); Golgi apparatus (inferred) 18 18 18 50382999 50404353 - 43903315 43924901 - 40543039 40564372 - 30032202 100980004 A0A2R9A3N8 MODEL JARIFH010000019;XM_003827198 XP_003827246 A0A2R9A3N8 immediate early response 3-interacting protein 1 protein-coding ENSPPAG00000029166 18 43903315 43924901 - 11691204 LOC100980311 X antigen family member 1 X X 53896884 53903593 - 44712389 44717662 - 100980311 MODEL JARIFH010000024;XM_003804187;XM_014343614 XP_003804235;XP_014199100 protein-coding 11691209 PDLIM3 PDZ and LIM domain 3 ENCODES a protein that exhibits actinin binding (ortholog); cytoskeletal protein binding (ortholog); structural constituent of muscle (ortholog); INVOLVED IN actin filament organization (ortholog); heart development (ortholog); skeletal muscle tissue development (ortholog); ASSOCIATED WITH arrhythmogenic right ventricular cardiomyopathy (ortholog); autistic disorder (ortholog); cardiomyopathy (ortholog); FOUND IN actin cytoskeleton (ortholog); Z disc (ortholog) 4 4 4 183584749 183618714 - 189880930 189914707 - 177664420 177698364 - 30032202 100981687 A0A2R9AVT7;A0A2R9AVU3;A0A2R9AZT1;A0A2R9B1T1 MODEL JARIFH010000005;XM_003823480;XM_003823481 XP_003823528;XP_003823529 A0A2R9AVU3 PDZ and LIM domain protein 3 protein-coding ENSPPAG00000033898 4 189880938 189914707 - 11691227 TFF2 trefoil factor 2 ENCODES a protein that exhibits CXCR4 chemokine receptor binding (ortholog); INVOLVED IN calcium-mediated signaling (ortholog); cell population proliferation (ortholog); chemokine-mediated signaling pathway (ortholog); ASSOCIATED WITH Acute Lung Injury (ortholog); cataract 9 multiple types (ortholog); developmental and epileptic encephalopathy 30 (ortholog); FOUND IN extracellular space (ortholog) 21 21 21 33254057 33258423 - 41973111 41977227 - 28653077 28657709 - 30032202 100981799 A0A2R9AA66 MODEL JARIFH010000022;XM_003823885 XP_003823933 A0A2R9AA66 protein-coding ENSPPAG00000030237 21 41973111 41977227 - 11691235 ACLY ATP citrate lyase ENCODES a protein that exhibits ATP citrate synthase activity (ortholog); INVOLVED IN acetyl-CoA metabolic process (ortholog); citrate metabolic process (ortholog); fatty acid biosynthetic process (ortholog); PARTICIPATES IN fatty acid biosynthetic pathway; ASSOCIATED WITH congestive heart failure (ortholog); genetic disease (ortholog); hepatocellular carcinoma (ortholog); FOUND IN cytoplasm (inferred); cytosol (inferred); nucleoplasm (inferred) 17 17 17 24943541 25005482 + 15615957 15665692 + 15385335 15447269 + 22301074;30032202 100981849 A0A2R8ZVQ2;A0A2R8ZYA0 MODEL JARIFH010000018;XM_034941849;XM_034941850;XM_034941851;XM_034941852;XM_034941853;XM_034941854;XM_034941855;XM_055100939 XP_034797740;XP_034797742;XP_034797743;XP_034797744;XP_034797745;XP_034797746;XP_054956914 A0A2R8ZYA0 ATP-citrate synthase protein-coding ENSPPAG00000027072 17 15615994 15664800 + 11691269 HAGHL hydroxyacylglutathione hydrolase like ENCODES a protein that exhibits hydrolase activity (inferred); metal ion binding (inferred); ASSOCIATED WITH epilepsy (ortholog); genetic disease (ortholog); idiopathic generalized epilepsy (ortholog) 16 16 4751488 4754200 + 740489 742780 + 22301074;30032202 100982149 A0A2R8ZRR4;A0A2R8ZSY5;A0A2R8ZXK1 MODEL JARIFH010000017;XM_008960933;XM_034951594;XM_034951595;XM_034951596;XM_034951597;XM_034951599;XM_034951600;XM_034951601;XM_057300126;XM_057300127;XM_057300128 XP_034807485;XP_034807486;XP_034807487;XP_034807488;XP_034807490;XP_034807491;XP_034807492;XP_057156109;XP_057156110;XP_057156111 A0A2R8ZSY5 hydroxyacylglutathione hydrolase-like;hydroxyacylglutathione hydrolase-like protein-like APPROVED protein-coding ENSPPAG00000026962 16 740574 742521 + 11691281 ECSCR endothelial cell surface expressed chemotaxis and apoptosis regulator INVOLVED IN negative regulation of angiogenesis (ortholog); positive regulation of endothelial cell apoptotic process (ortholog); positive regulation of proteasomal protein catabolic process (ortholog); ASSOCIATED WITH autosomal dominant intellectual developmental disorder 31 (ortholog); autosomal dominant nonsyndromic deafness 1 (ortholog); familial adenomatous polyposis 1 (ortholog); FOUND IN cytosol (inferred); intracellular membrane-bounded organelle (inferred); membrane (inferred) 5 5 5 132854965 132870071 - 140940578 140955137 - 134819568 134833508 - 30032202 100982176 A0A2R9B144 MODEL JARIFH010000006;XM_034960605;XM_034960606;XM_034960607;XM_034960608;XM_034960609 XP_034816496;XP_034816497;XP_034816498;XP_034816500 A0A2R9B144 endothelial cell-specific chemotaxis regulator protein-coding ENSPPAG00000034856 5 140940578 140955140 - 11691303 TBC1D2 TBC1 domain family member 2 ENCODES a protein that exhibits cadherin binding (inferred); GTPase activator activity (inferred); INVOLVED IN regulation of cilium assembly (ortholog); ASSOCIATED WITH congenital disorder of glycosylation Ii (ortholog); congenital disorder of glycosylation type II (ortholog); congenital myasthenic syndrome 14 (ortholog); FOUND IN cell junction (inferred); cytoplasmic vesicle (inferred); cytosol (inferred) 9 9 9 41202779 41261725 + 97409114 97466818 - 69288262 69345672 - 100982441 A0A2R9BYX5;A0A2R9BYX8 MODEL JARIFH010000010;XM_003820623;XM_008974064;XM_034967853;XM_034967854;XM_034967855;XM_034967856;XM_034967857;XR_003028853 XP_003820671;XP_008972312;XP_034823744;XP_034823745;XP_034823746 A0A2R9BYX8 TBC1 domain family member 2A protein-coding ENSPPAG00000039693 9 97409114 97466818 - 11691323 PDGFC platelet derived growth factor C ENCODES a protein that exhibits growth factor activity (inferred); platelet-derived growth factor receptor binding (inferred); protein homodimerization activity (inferred); INVOLVED IN animal organ morphogenesis (ortholog); bone development (ortholog); cellular response to amino acid stimulus (ortholog); PARTICIPATES IN platelet-derived growth factor signaling pathway; ASSOCIATED WITH COVID-19 (ortholog); genetic disease (ortholog); Mesothelioma (ortholog); FOUND IN cell surface (inferred); cytosol (inferred); extracellular region (inferred) 4 4 4 155007121 155219104 - 160921353 161132308 - 149105330 149317254 - 22301074;30032202 100982459 A0A2R9BRW3 MODEL JARIFH010000005;XM_003822558;XM_034959315;XM_034959316 XP_003822606;XP_034815207 A0A2R9BRW3 platelet-derived growth factor C protein-coding ENSPPAG00000039103 4 160922827 161131960 - 11691337 LOC100982596 notch homolog 2 N-terminal-like protein R 1 1 1 101246517 101299807 - 128473303 128508344 + 123436459 123444383 + 22301074;30032202 100982596 MODEL JARIFH010000001;XM_055102322;XM_055102323;XM_055102324;XM_055102325 XP_054958297;XP_054958298;XP_054958299;XP_054958300 myomegalin-like;notch homolog 2 N-terminal-like protein A APPROVED protein-coding 11691338 LOC100984076 inosine-5'-monophosphate dehydrogenase 1-like 7 7 7 27265888 27269182 + 142889819 142891372 + 130400808 130404114 + 100984076 MODEL JARIFH010000008 inosine-5'-monophosphate dehydrogenase 1 pseudogene APPROVED pseudo 11691339 PCGF1 polycomb group ring finger 1 ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN chromatin remodeling (inferred); PARTICIPATES IN histone modification pathway; ASSOCIATED WITH congenital disorder of glycosylation type IIb (ortholog); dystonia (ortholog); genetic disease (ortholog); FOUND IN nucleoplasm (inferred); nucleus (inferred); PcG protein complex (inferred) 2A 2A 2A 51883903 51886893 + 76077962 76080714 - 74571721 74574468 - 30032202 100986172 A0A2R9ACZ0 MODEL JARIFH010000002;XM_003810331 XP_003810379 A0A2R9ACZ0 polycomb group RING finger protein 1 protein-coding ENSPPAG00000029886 2A 76077962 76080720 - 11691352 SLC25A2 solute carrier family 25 member 2 ENCODES a protein that exhibits L-arginine transmembrane transporter activity (ortholog); L-lysine transmembrane transporter activity (ortholog); L-ornithine transmembrane transporter activity (ortholog); INVOLVED IN L-arginine transmembrane transport (ortholog); L-lysine transmembrane transport (ortholog); L-ornithine transmembrane transport (ortholog); PARTICIPATES IN 2-aminoadipic 2-oxoadipic aciduria pathway; glutaric aciduria type I pathway; hyperlysinemia pathway; ASSOCIATED WITH autosomal dominant intellectual developmental disorder 31 (ortholog); familial adenomatous polyposis 1 (ortholog); genetic disease (ortholog); FOUND IN mitochondrion (ortholog) 5 5 5 134691724 134695284 - 142778348 142779770 - 136664485 136666344 - 30032202 100986518 MODEL JARIFH010000006;XM_003829137 XP_003829185 mitochondrial ornithine transporter 2 protein-coding ENSPPAG00000002143 11691357 LOC100986596 39S ribosomal protein L35, mitochondrial-like 6 6 6 24591609 24592176 + 14162952 14163519 + 13792520 13793087 + 100986596 MODEL JARIFH010000007 39S ribosomal protein L35, mitochondrial pseudogene APPROVED pseudo 11691358 ARF5 ADP ribosylation factor 5 ENCODES a protein that exhibits GTP binding (inferred); GTPase activity (inferred); nucleotide binding (inferred); INVOLVED IN protein transport (inferred); retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum (inferred); vesicle-mediated transport (inferred); PARTICIPATES IN phosphatidylinositol 3-kinase class I signaling pathway; ASSOCIATED WITH genetic disease (ortholog); pleomorphic xanthoastrocytoma (ortholog); FOUND IN cytoplasm (inferred); Golgi apparatus (inferred); plasma membrane (inferred) 7 7 7 16457764 16461106 + 132239114 132242323 + 119583955 119587272 + 22301074;30032202 100986801 A0A2R9BSB5 MODEL JARIFH010000008;XM_003806052 XP_003806100 A0A2R9BSB5 ADP-ribosylation factor 5 protein-coding ENSPPAG00000037755 7 132239114 132242323 + 11691368 WIPF1 WAS/WASL interacting protein family member 1 ENCODES a protein that exhibits protein folding chaperone (ortholog); INVOLVED IN actin cytoskeleton organization (ortholog); actin filament-based movement (ortholog); positive regulation of protein export from nucleus (ortholog); ASSOCIATED WITH atrial fibrillation (ortholog); Experimental Liver Cirrhosis (ortholog); genetic disease (ortholog); FOUND IN actin filament (ortholog) 2B 2B 2B 77238760 77362431 - 179290685 179316694 - 61837128 61960468 - 22301074 100987142 A0A2R9BJR0 MODEL JARIFH010000003;XM_034954545;XM_034954546;XM_034954547;XM_034954548;XM_055108791;XM_057301440 XP_034810436;XP_034810437;XP_034810439;XP_054964766;XP_057157423 A0A2R9BJR0 WAS/WASL-interacting protein family member 1 protein-coding ENSPPAG00000037968 2B 179290685 179316695 - 11691378 MARVELD2 MARVEL domain containing 2 INVOLVED IN cell-cell junction organization (ortholog); sensory perception of sound (ortholog); ASSOCIATED WITH autosomal recessive nonsyndromic deafness (ortholog); autosomal recessive nonsyndromic deafness 49 (ortholog); Deafness (ortholog); FOUND IN anchoring junction (inferred); apical plasma membrane (inferred); basolateral plasma membrane (inferred) 5 5 5 42627667 42658071 - 46128408 46155981 - 44557385 44585868 - 30032202 100988729 A0A2R9AHD4;A0A2R9AHE7;A0A2R9APH4 MODEL JARIFH010000006;XM_003806783;XM_003806784;XM_008957358;XM_034959998 XP_003806831;XP_008955606 A0A2R9APH4 MARVEL domain-containing protein 2 protein-coding ENSPPAG00000031481 5 46128408 46155981 - 11691395 LOC100988799 chromosome 13 C13orf46 homolog ASSOCIATED WITH factor X deficiency (ortholog) 13 13 13 114131018 114141106 - 114095930 114116686 - 95013254 95032741 - 100988799 MODEL JARIFH010000014;XM_034936371;XM_055097071 XP_054953046 C13H13orf46 uncharacterized LOC100988799;uncharacterized protein C13orf46 homolog;uncharacterized protein LOC100988799 APPROVED protein-coding 11691409 LOC100988964 starch-binding domain-containing protein 1-like 12 12 12 46673750 46684740 + 42015865 42126836 + 41142672 41253646 + 100988964 MODEL JARIFH010000013 starch-binding domain-containing protein 1 pseudogene APPROVED pseudo 11691410 CFL2 cofilin 2 ENCODES a protein that exhibits actin binding (inferred); actin filament binding (inferred); INVOLVED IN actin filament depolymerization (ortholog); actin filament organization (ortholog); muscle cell cellular homeostasis (ortholog); ASSOCIATED WITH atrial fibrillation (ortholog); Brain-Lung-Thyroid Syndrome (ortholog); ectodermal dysplasia and immunodeficiency 2 (ortholog); FOUND IN actin cytoskeleton (inferred); I band (inferred); Z disc (inferred) 14 14 14 35245162 35249428 - 33655744 33659478 - 15468532 15473094 - 22301074;30032202 100989724 A0A2R8Z9R1 MODEL JARIFH010000015;XM_003821198;XM_034937424;XM_034937425;XM_034937426;XM_055097468;XR_004666141 XP_003821246;XP_034793315;XP_034793316;XP_034793317;XP_054953443 A0A2R8Z9R1 cofilin-2 protein-coding ENSPPAG00000007558 14 33655744 33659473 - 11691423 VIPR2 vasoactive intestinal peptide receptor 2 ENCODES a protein that exhibits vasoactive intestinal polypeptide receptor activity (ortholog); INVOLVED IN activation of adenylate cyclase activity (ortholog); negative regulation of smooth muscle cell proliferation (ortholog); ASSOCIATED WITH autistic disorder (ortholog); colitis (ortholog); genetic disease (ortholog); FOUND IN membrane (inferred); plasma membrane (inferred) 7 7 47545399 47663696 - 162306477 162425860 - 22301074;30032202 100992411 A0A2R8ZTG4;A0A2R8ZTI0;A0A2R8ZUP0;A0A2R8ZZ81 MODEL JARIFH010000008;XM_024929406;XM_034951833 XP_034807724 A0A2R8ZTG4 vasoactive intestinal polypeptide receptor 2 protein-coding ENSPPAG00000027350 7 162306477 162422788 - 11691450 FUBP3 far upstream element binding protein 3 ENCODES a protein that exhibits nucleic acid binding (inferred); RNA binding (inferred); single-stranded DNA binding (inferred); INVOLVED IN intracellular mRNA localization (ortholog); positive regulation of transcription by RNA polymerase II (ortholog); ASSOCIATED WITH citrullinemia (ortholog); genetic disease (ortholog); primary coenzyme Q10 deficiency 7 (ortholog); FOUND IN dendritic shaft (ortholog); neuronal cell body (ortholog); nucleoplasm (ortholog) 9 9 9 8716148 8774919 - 130352000 130411601 + 101703130 101762607 + 30032202 100993270 A0A2R8ZIK0;A1YG49;A1YG50;A1YG51;A1YG52 MODEL DQ977218;JARIFH010000010;XM_003822374;XM_008975936;XM_008975937;XM_008975938;XM_034929296;XM_034929297;XM_034929298;XM_055117574 ABM54274;ABM54275;ABM54276;ABM54277;XP_003822422;XP_008974184;XP_008974185;XP_054973549 A0A2R8ZIK0 far upstream element-binding protein 3 protein-coding ENSPPAG00000011103 9 130353079 130411601 + 11691483 LOC103782910 MICOS complex subunit MIC10-like 3 3 3 27166745 27167908 - 27429935 27431500 - 27102915 27103767 - 103782910 MODEL JARIFH010000004 MICOS complex subunit MIC10 pseudogene APPROVED pseudo 11691484 LOC103784124 uncharacterized LOC103784124 20 7 20 26656791 26685877 - 36770382 36786018 + 26032267 26034024 + 103784124 MODEL JARIFH010000021;XM_034947166 XP_034803057 LOC117977193 uncharacterized protein LOC103784124 APPROVED protein-coding 11691489 LOC103785154 translation machinery-associated protein 16-like 1 1 1 180087680 180102377 + 46506233 46507185 - 45150911 45165323 - 103785154 MODEL JARIFH010000001 translation machinery-associated protein 16 pseudogene APPROVED pseudo 11691499 LOC106635469 ubiquitin-40S ribosomal protein S27a-like 14 14 14 27807593 27808110 - 26132965 26133482 - 8011703 8012220 - 106635469 MODEL JARIFH010000015 ubiquitin-40S ribosomal protein S27a pseudogene APPROVED pseudo 11691500 FGF19 fibroblast growth factor 19 ENCODES a protein that exhibits fibroblast growth factor receptor binding (inferred); growth factor activity (inferred); INVOLVED IN bile acid and bile salt transport (ortholog); fibroblast growth factor receptor signaling pathway (ortholog); heart development (ortholog); PARTICIPATES IN fibroblast growth factor signaling pathway; ASSOCIATED WITH Aicardi-Goutieres Syndrome 3 (ortholog); alcoholic hepatitis (ortholog); colitis (ortholog); FOUND IN extracellular region (inferred) 11 11 11 71707114 71712996 - 68085306 68090028 - 64794157 64800512 - 22301074;30032202 100967291 A0A2R8ZQ68 MODEL JARIFH010000012;XM_014346846 XP_014202332 A0A2R8ZQ68 protein-coding ENSPPAG00000025447 11 68085306 68090028 - 11691507 PERP p53 apoptosis effector related to PMP22 INVOLVED IN amelogenesis (ortholog); desmosome organization (ortholog); heterotypic cell-cell adhesion (ortholog); ASSOCIATED WITH Erythrokeratodermia Variabilis et Progressiva 7 (ortholog); Familial Behcet-Like Autoinflammatory Syndrome (ortholog); genetic disease (ortholog); FOUND IN Golgi apparatus (ortholog); mitochondrion (ortholog); plasma membrane (ortholog) 6 6 6 155949703 155967511 - 139931031 139947785 - 135845845 135863603 - 22301074;30032202 100967395 A0A2R9BV32 MODEL JARIFH010000007;XM_003827701 XP_003827749 A0A2R9BV32 PERP, TP53 apoptosis effector;p53 apoptosis effector related to PMP-22 APPROVED protein-coding ENSPPAG00000039047 6 139931031 139947792 - 11691514 CDH6 cadherin 6 ENCODES a protein that exhibits calcium ion binding (inferred); metal ion binding (inferred); INVOLVED IN female gonad development (ortholog); Notch signaling pathway (ortholog); ASSOCIATED WITH Cachexia (ortholog); genetic disease (ortholog); Neurodevelopmental Disorders (ortholog); FOUND IN glutamatergic synapse (ortholog); synapse (ortholog) 5 5 5 77140291 77280100 - 84398468 84529567 - 79013970 79152645 - 22301074;30032202 100967674 A0A2R9AUM4 MODEL JARIFH010000006;XM_008971846;XM_034960236;XM_034960237;XM_055112480 XP_008970094;XP_034816127;XP_054968455 A0A2R9AUM4 cadherin-6 protein-coding ENSPPAG00000033662 5 84398474 84456013 - 11691533 LOC100968348 5-hydroxytryptamine receptor 3C-like 3 3 3 181951433 181960839 + 189277455 189285512 + 181111990 181120073 + 22301074;30032202 100968348 MODEL JARIFH010000004;XM_055110882 XP_054966857 protein-coding 11691534 MOGAT3 monoacylglycerol O-acyltransferase 3 ENCODES a protein that exhibits 2-acylglycerol O-acyltransferase activity (inferred); acyltransferase activity (inferred); diacylglycerol O-acyltransferase activity (inferred); INVOLVED IN monoacylglycerol biosynthetic process (inferred); triglyceride biosynthetic process (inferred); ASSOCIATED WITH genetic disease (ortholog); Plasminogen Activator Inhibitor-1 Deficiency (ortholog); pleomorphic xanthoastrocytoma (ortholog); FOUND IN endoplasmic reticulum (inferred); endoplasmic reticulum membrane (inferred); membrane (inferred) 7 7 7 167470084 167479290 - 106577727 106582799 - 93337040 93342822 - 30032202 100969446 A0A2R9CLU9;A0A2R9CS57 MODEL JARIFH010000008;XM_003807198;XM_008959248 XP_003807246;XP_008957496 A0A2R9CS57 2-acylglycerol O-acyltransferase 3 protein-coding ENSPPAG00000043591 7 106577727 106582799 - 11691550 PROS1 protein S ENCODES a protein that exhibits protein-containing complex binding (ortholog); INVOLVED IN liver development (ortholog); negative regulation of coagulation (ortholog); positive regulation of phagocytosis (ortholog); PARTICIPATES IN protein C anticoagulant pathway; ASSOCIATED WITH adult respiratory distress syndrome (ortholog); autosomal dominant thrombophilia due to protein S deficiency (ortholog); autosomal recessive thrombophilia due to protein S deficiency (ortholog); FOUND IN extracellular space (ortholog); protein-containing complex (ortholog) 3 3 3 91785656 91890489 - 97615734 97719057 - 90934641 91039059 - 22301074;30032202 100969680 A0A2R8ZSS4;A0A2R8ZST8;A0A2R8ZTZ0 MODEL JARIFH010000004;XM_034956969;XM_034956970;XM_055110171 XP_034812861;XP_054966146 A0A2R8ZST8 LOC100969680 vitamin K-dependent protein S APPROVED protein-coding ENSPPAG00000027232 3 97615734 97718756 - 11691570 SLC5A9 solute carrier family 5 member 9 ENCODES a protein that exhibits transmembrane transporter activity (inferred); INVOLVED IN transmembrane transport (inferred); ASSOCIATED WITH genetic disease (ortholog); FOUND IN membrane (inferred); plasma membrane (inferred) 1 1 1 177718087 177743695 - 49019177 49044563 + 47509220 47534884 + 22301074;30032202 100970530 A0A2R9B0B9;A0A2R9B474;A0A2R9B6K4;A0A2R9B6K8 MODEL JARIFH010000001;XM_003829576;XM_014345177 XP_014200663 A0A2R9B6K4 sodium/glucose cotransporter 4;solute carrier family 5 (sodium/glucose cotransporter), member 9 protein-coding ENSPPAG00000034646 1 49019210 49044563 + 11691591 EOGT EGF domain specific O-linked N-acetylglucosamine transferase ENCODES a protein that exhibits glycosyltransferase activity (inferred); protein O-acetylglucosaminyltransferase activity (inferred); transferase activity (inferred); INVOLVED IN protein O-linked glycosylation (inferred); ASSOCIATED WITH Adams-Oliver syndrome (ortholog); Adams-Oliver Syndrome 4 (ortholog); genetic disease (ortholog) 3 3 3 68935557 68975490 - 70277052 70317471 - 68910100 68950816 - 30032202 100970968 A0A2R9BZ03;A0A2R9C1Q2 MODEL JARIFH010000004;XM_003811586;XM_014344261;XM_014344262;XM_014344263;XM_055110134 XP_003811634;XP_014199747;XP_014199749;XP_054966109 A0A2R9BZ03 EGF domain-specific O-linked N-acetylglucosamine transferase protein-coding ENSPPAG00000040173 3 70277450 70317465 - 11691622 LOC100972205 40S ribosomal protein S15 ENCODES a protein that exhibits RNA binding (inferred); structural constituent of ribosome (inferred); INVOLVED IN translation (inferred); FOUND IN ribonucleoprotein complex (inferred); ribosome (inferred); small ribosomal subunit (inferred) 2B 2B 2B 74211251 74211773 - 176266908 176267429 - 58808429 58808949 - 22301074;30032202 100972205 A0A2R8ZG01 MODEL JARIFH010000003;XM_008978022 XP_008976270 A0A2R8ZG01 protein-coding ENSPPAG00000015902 11691627 HOXA2 homeobox A2 ENCODES a protein that exhibits DNA-binding transcription repressor activity, RNA polymerase II-specific (ortholog); RNA polymerase II cis-regulatory region sequence-specific DNA binding (ortholog); sequence-specific DNA binding (ortholog); INVOLVED IN anterior/posterior pattern specification (ortholog); brain segmentation (ortholog); cell fate commitment (ortholog); ASSOCIATED WITH Athabaskan brainstem dysgenesis syndrome (ortholog); Congenital Microtia (ortholog); genetic disease (ortholog); FOUND IN intracellular membrane-bounded organelle (inferred); nucleoplasm (inferred); nucleus (inferred) 7 7 7 80250959 80256546 - 27344100 27346794 - 27745138 27747129 - 22301074 100973461 A0A2R9B7T2;A0A2R9BDF7 MODEL JARIFH010000008;XM_034963840 XP_034819731 A0A2R9BDF7 homeobox protein Hox-A2 protein-coding ENSPPAG00000035694 7 27344469 27346789 - 11691634 NOX5 NADPH oxidase 5 ENCODES a protein that exhibits superoxide-generating NAD(P)H oxidase activity (ortholog); INVOLVED IN angiogenesis (ortholog); positive regulation of reactive oxygen species metabolic process (ortholog); ASSOCIATED WITH Bloom syndrome (ortholog); colorectal cancer (ortholog); genetic disease (ortholog); FOUND IN endoplasmic reticulum (ortholog); plasma membrane (ortholog) 15 15 15 62422026 62488392 + 66651277 66777037 + 47961085 48003529 + 22301074;30032202 100973653 A0A2R9BPS1 MODEL JARIFH010000016;XM_003818526;XM_055098990;XM_055098992 XP_003818574;XP_054954965;XP_054954967 A0A2R9BPS1 protein-coding ENSPPAG00000038195 15 66734521 66777037 + 11691661 ACTR8 actin related protein 8 ENCODES a protein that exhibits ATP binding (inferred); nucleotide binding (inferred); INVOLVED IN chromatin remodeling (inferred); DNA damage response (inferred); DNA recombination (inferred); PARTICIPATES IN INO80 family mediated chromatin remodeling pathway; ASSOCIATED WITH genetic disease (ortholog); FOUND IN Ino80 complex (ortholog) 3 3 3 53856918 53878891 - 55023876 55041182 - 53802916 53820244 - 30032202 100973773 A0A2R9ACB9 MODEL JARIFH010000004;XM_003818725;XM_008972087;XM_034956672;XM_034956673;XM_055110062;XM_055110063;XM_055110064;XM_055110066 XP_003818773;XP_008970335;XP_054966037;XP_054966038;XP_054966039;XP_054966041 A0A2R9ACB9 ARP8 actin related protein 8 homolog;ARP8 actin-related protein 8 homolog;actin-related protein 8 APPROVED protein-coding ENSPPAG00000029719 3 55027468 55041182 - 11691691 LOC100974720 prohibitin-2-like 10 10 10 121416293 121419119 + 109578644 109579548 + 106125144 106127254 + 100974720 MODEL JARIFH010000011 prohibitin-2 pseudogene APPROVED pseudo 11691692 ZNF683 zinc finger protein 683 ENCODES a protein that exhibits promoter-specific chromatin binding (ortholog); RNA polymerase II cis-regulatory region sequence-specific DNA binding (ortholog); INVOLVED IN cellular response to ionomycin (ortholog); natural killer cell differentiation (ortholog); negative regulation of transcription by RNA polymerase II (ortholog); ASSOCIATED WITH autosomal recessive hypercholesterolemia (ortholog); Chloracne (ortholog); COVID-19 (ortholog) 1 1 1 199585427 199608336 + 26690359 26703755 - 25622548 25636106 - 30032202 100974721 A0A2R9BPK7;A0A2R9BYK3 MODEL JARIFH010000001;XM_003809445;XM_008961668;XM_008961669;XM_008961670;XM_008961671;XM_008961672;XM_024930194;XM_034958943;XM_055103655 XP_008959916;XP_008959919;XP_024785962;XP_054959630 A0A2R9BPK7 tissue-resident T-cell transcription regulator protein ZNF683 protein-coding ENSPPAG00000038727 1 26690359 26703755 - 11691718 MROH2A maestro heat like repeat family member 2A ASSOCIATED WITH Joubert syndrome 22 (ortholog); Perlman syndrome (ortholog) 2B 2B 2B 136446070 136485895 + 239902553 239945303 + 121034266 121074112 + 30032202 100975416 A0A2R9CP78 MODEL JARIFH010000003;XM_034953889;XM_055108404 XP_054964379 A0A2R9CP78 HEATR7B1 HEAT repeat containing 7B1;maestro heat-like repeat-containing protein family member 2A protein-coding ENSPPAG00000044111 11691751 TMEM127 transmembrane protein 127 ENCODES a protein that exhibits small GTPase binding (inferred); INVOLVED IN endosome organization (ortholog); regulation of TOR signaling (ortholog); ASSOCIATED WITH acute myeloid leukemia (ortholog); acute promyelocytic leukemia (ortholog); Hereditary Neoplastic Syndromes (ortholog); FOUND IN cytoplasm (inferred); early endosome (inferred); membrane (inferred) 2A 2A 2A 32045577 32059977 + 97174322 97189177 - 103049655 103065116 + 30032202 100976030 A0A2R9C0B0 MODEL JARIFH010000002;XM_003805729;XM_003805730;XM_055107664;XM_055107665 XP_003805777;XP_003805778;XP_054963639;XP_054963640 A0A2R9C0B0 LOC103786486 uncharacterized LOC103786486 PROVISIONAL protein-coding ENSPPAG00000038982 2A 97174322 97189171 - 11691763 CCDC59 coiled-coil domain containing 59 ASSOCIATED WITH genetic disease (ortholog) 12 12 12 90392986 90399103 - 82976079 82981650 - 79864105 79873182 - 30032202 100976189 A0A2R9AAH0 MODEL JARIFH010000013;XM_003811649 XP_003811697 A0A2R9AAH0 thyroid transcription factor 1-associated protein 26 protein-coding ENSPPAG00000030113 12 82976079 82981650 - 11691771 SLCO1B1 solute carrier organic anion transporter family member 1B1 ENCODES a protein that exhibits organic anion transmembrane transporter activity (inferred); prostaglandin transmembrane transporter activity (inferred); transmembrane transporter activity (inferred); INVOLVED IN monoatomic ion transport (inferred); organic anion transport (inferred); prostaglandin transport (inferred); PARTICIPATES IN axitinib pharmacokinetics pathway; irinotecan pharmacodynamics pathway; irinotecan pharmacokinetics pathway; ASSOCIATED WITH Breast Neoplasms (ortholog); Chemical and Drug Induced Liver Injury (ortholog); Drug-Related Side Effects and Adverse Reactions (ortholog); FOUND IN basal plasma membrane (inferred); membrane (inferred); plasma membrane (inferred) 12 12 12 75558008 75672623 - 67656212 67771073 - 65052177 65169075 - 22301074;30032202 100976318 A0A2R9AN29 MODEL JARIFH010000013;XM_003828901 XP_003828949 A0A2R9AN29 protein-coding ENSPPAG00000031308 12 67656212 67771073 - 11691790 ST8SIA2 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 ENCODES a protein that exhibits sialyltransferase activity (ortholog); INVOLVED IN neuron differentiation (ortholog); neuron projection extension (ortholog); positive regulation of neuron apoptotic process (ortholog); ASSOCIATED WITH autistic disorder (ortholog); genetic disease (ortholog); FOUND IN perinuclear region of cytoplasm (ortholog) 15 15 15 85644544 85725911 + 90279509 90354173 + 71082491 71158038 + 22301074;30032202 100976676 A0A2R9CEW5;A0A2R9CF06;A0A2R9CPN6 MODEL JARIFH010000016;XM_003816786;XM_003816787;XM_034939453 XP_003816834 A0A2R9CF06 alpha-2,8-sialyltransferase 8B protein-coding ENSPPAG00000042880 15 90279509 90354173 + 11691802 NCAPG2 non-SMC condensin II complex subunit G2 ENCODES a protein that exhibits bHLH transcription factor binding (inferred); methylated histone binding (inferred); INVOLVED IN erythrocyte differentiation (ortholog); inner cell mass cell proliferation (ortholog); transcription by RNA polymerase II (ortholog); ASSOCIATED WITH autistic disorder (ortholog); genetic disease (ortholog); holoprosencephaly 3 (ortholog); FOUND IN nucleus (ortholog) 7 7 7 47129161 47201491 - 161905762 161977093 - 150441385 150513391 - 22301074;30032202 100977342 A0A2R9C7N1;A0A2R9C7P1;A0A2R9C7Y8 MODEL JARIFH010000008;XM_003816335;XM_008969402;XM_034965371;XM_034965372 XP_003816383;XP_008967650;XP_034821262;XP_034821263 A0A2R9C7Y8 condensin-2 complex subunit G2 protein-coding ENSPPAG00000041688 7 161905762 161977093 - 11691840 TARS2 threonyl-tRNA synthetase 2, mitochondrial ENCODES a protein that exhibits aminoacyl-tRNA editing activity (inferred); aminoacyl-tRNA ligase activity (inferred); ATP binding (inferred); INVOLVED IN aminoacyl-tRNA metabolism involved in translational fidelity (inferred); threonyl-tRNA aminoacylation (inferred); translation (inferred); ASSOCIATED WITH combined oxidative phosphorylation deficiency 21 (ortholog); Failure to Thrive (ortholog); gastrointestinal stromal tumor (ortholog); FOUND IN cytoplasm (inferred) 1 1 1 99084610 99104911 - 129480818 129501639 + 125832693 125852918 + 22301074;30032202 100978264 A0A2R9C9N8;A0A2R9C9N9;A0A2R9CCD5;A0A2R9CCF6;A0A2R9CKJ9 MODEL JARIFH010000001;XM_003817303;XM_008970473;XM_055101769 XP_003817351;XP_008968721;XP_054957744 A0A2R9C9N8 threonine--tRNA ligase, mitochondrial;threonyl-tRNA synthetase 2, mitochondrial (putative) APPROVED protein-coding ENSPPAG00000042011 1 129480824 129501639 + 11691866 LOC100978335 adhesion G protein-coupled receptor A3-like 18 18 18 11657651 11662221 + 4509215 4513465 + 2247428 2251865 + 22301074;30032202 100978335 MODEL JARIFH010000019;XM_034943918 XP_034799809 adhesion G protein-coupled receptor A3 pseudogene APPROVED protein-coding 11691867 PHYHIP phytanoyl-CoA 2-hydroxylase interacting protein ENCODES a protein that exhibits protein tyrosine kinase binding (inferred); INVOLVED IN protein localization (inferred); ASSOCIATED WITH Conotruncal Cardiac Defects (ortholog); genetic disease (ortholog); FOUND IN cytoplasm (inferred) 8 8 8 16446632 16459269 - 18404176 18417035 - 21464544 21477197 - 22301074;30032202 100978626 A0A2R9A0U4 MODEL JARIFH010000009;XM_003823601;XM_034965808 XP_003823649;XP_034821699 A0A2R9A0U4 protein-coding ENSPPAG00000028451 8 18404176 18417035 - 11691879 THAP12 THAP domain containing 12 ENCODES a protein that exhibits DNA binding (inferred); protein dimerization activity (inferred); ASSOCIATED WITH genetic disease (ortholog); intellectual disability (ortholog); FOUND IN nucleus (ortholog) 11 11 11 78317857 78349054 - 75108589 75124592 + 71401581 71432779 - 22301074 100978854 A0A2R8ZCN0 MODEL JARIFH010000012;XM_034933397 XP_034789288 A0A2R8ZCN0 52 kDa repressor of the inhibitor of the protein kinase protein-coding ENSPPAG00000005479 11 75108586 75124592 + 11691894 WASF2 WASP family member 2 ENCODES a protein that exhibits actin binding (inferred); protein kinase A binding (inferred); SH3 domain binding (inferred); INVOLVED IN actin cytoskeleton organization (ortholog); actin filament-based movement (ortholog); ameboidal-type cell migration (ortholog); PARTICIPATES IN E-cadherin signaling pathway; platelet-derived growth factor signaling pathway; ASSOCIATED WITH genetic disease (ortholog); FOUND IN cell-cell junction (ortholog); early endosome (ortholog); ruffle (ortholog) 1 1 1 198479506 198564582 + 27713611 27796304 - 26665853 26750618 - 22301074;30032202 100979214 A0A2R9C9E8;A0A2R9CK50 MODEL JARIFH010000001;XM_003828070;XM_034959185;XM_055096244 XP_003828118;XP_034815076;XP_054952219 A0A2R9CK50 WAS protein family member 2;actin-binding protein WASF2;wiskott-Aldrich syndrome protein family member 2 APPROVED protein-coding ENSPPAG00000041993 1 27717538 27737316 - 11691907 TPX2 TPX2 microtubule nucleation factor ENCODES a protein that exhibits importin-alpha family protein binding (inferred); protein kinase binding (inferred); INVOLVED IN cell division (inferred); microtubule nucleation (inferred); mitotic spindle assembly (inferred); ASSOCIATED WITH COVID-19 (ortholog); genetic disease (ortholog); hepatocellular carcinoma (ortholog); FOUND IN spindle pole (ortholog) 20 20 20 37427939 37491425 + 29163312 29225860 + 28032663 28095223 + 30032202 100979234 A0A2R9ACH6;A0A2R9ADI4;A0A2R9AHE2 MODEL JARIFH010000021;XM_003814760;XM_008967520;XM_008967521;XM_008967522;XM_008967523;XM_055105042;XM_055105043;XM_055105044 XP_003814808;XP_008965768;XP_008965769;XP_008965770;XP_008965771;XP_054961017;XP_054961018;XP_054961019 A0A2R9ADI4 TPX2, microtubule nucleation factor;TPX2, microtubule-associated, homolog;targeting protein for Xklp2 APPROVED protein-coding ENSPPAG00000030616 20 29163312 29225860 + 11691944 KATNAL2 katanin catalytic subunit A1 like 2 ENCODES a protein that exhibits ATP binding (inferred); ATP hydrolysis activity (inferred); isomerase activity (inferred); INVOLVED IN microtubule severing (inferred); ASSOCIATED WITH autistic disorder (ortholog); genetic disease (ortholog); intellectual disability (ortholog); FOUND IN cytoplasm (inferred); cytoskeleton (inferred); microtubule (inferred) 18 18 18 50031871 50330194 + 43729436 43850517 + 40196170 40492175 + 22301074;30032202 100979314 A0A2R8ZI16;A0A2R8ZI24;A0A2R8ZP89;A0A2R8ZP95 MODEL JARIFH010000019;XM_003827196;XM_024926388;XM_024926389;XM_024926390;XM_024926391;XM_034943628;XM_034943629;XM_034943630;XM_034943631;XM_055102405;XM_055102406;XM_055102407;XM_055102408;XM_055102409;XM_055102411;XM_055102412;XM_057300394 XP_003827244;XP_024782156;XP_024782157;XP_034799520;XP_034799521;XP_054958380;XP_054958381;XP_054958382;XP_054958383;XP_054958384;XP_054958386;XP_054958387;XP_057156377 A0A2R8ZP89 katanin p60 ATPase-containing subunit A-like 2 protein-coding ENSPPAG00000019290 18 43758249 43850517 + 11691969 LOC100979850 RNA transcription, translation and transport factor protein-like 2A 2A 2A 16138779 16140723 + 113072748 113073487 - 90066798 90068200 + 100979850 MODEL JARIFH010000002;XR_610611 RNA transcription, translation and transport factor protein pseudogene;UPF0568 protein C14orf166 pseudogene APPROVED pseudo 11691972 LOC100979879 endosome-associated-trafficking regulator 1-like 1 1 1 74358654 74359962 + 154255521 154256607 - 150557259 150558450 - 100979879 MODEL JARIFH010000001 serologically defined colon cancer antigen 3 pseudogene APPROVED pseudo 11691973 LOC100980447 heterogeneous nuclear ribonucleoprotein Q-like 20 20 20 7132957 7135261 + 5991802 5993831 + 6209620 6211625 + 100980447 MODEL JARIFH010000021;XR_612307 heterogeneous nuclear ribonucleoprotein Q pseudogene APPROVED pseudo 11691976 ELP2 elongator acetyltransferase complex subunit 2 ENCODES a protein that exhibits RNA polymerase II complex binding (ortholog); INVOLVED IN regulation of receptor signaling pathway via JAK-STAT (ortholog); ASSOCIATED WITH autism spectrum disorder (ortholog); autosomal recessive intellectual developmental disorder 48 (ortholog); autosomal recessive intellectual developmental disorder 58 (ortholog); FOUND IN elongator holoenzyme complex (ortholog) 18 18 18 39217955 39266518 + 32941125 32986191 + 29382531 29428212 + 22301074;30032202 100981283 A0A2R9A8V6 MODEL JARIFH010000019;XM_003830220;XM_034943476;XR_609164 XP_003830268;XP_034799367 A0A2R9A8V6 elongation protein 2 homolog;elongator complex protein 2 protein-coding ENSPPAG00000029226 18 32941122 32986191 + 11692009 EQTN equatorin INVOLVED IN acrosomal vesicle exocytosis (ortholog); endocytosis (ortholog); establishment of localization in cell (ortholog); ASSOCIATED WITH genetic disease (ortholog); FOUND IN acrosomal membrane (ortholog); cytoplasm (ortholog); early endosome (ortholog) 9 9 9 97252601 97265190 + 27738315 27750736 - 27109424 27144789 - 22301074;30032202 100981393 A0A2R9CA29 MODEL JARIFH010000010;XM_003830701;XM_034967273;XM_057298720;XM_057298721 XP_003830749;XP_057154703;XP_057154704 A0A2R9CA29 acrosome formation-associated factor-like protein-coding ENSPPAG00000042132 9 27737861 27750736 - 11692021 SERTAD4 SERTA domain containing 4 ASSOCIATED WITH gastrointestinal stromal tumor (ortholog); genetic disease (ortholog); parathyroid carcinoma (ortholog); FOUND IN nucleus (inferred) 1 1 1 39134527 39148088 - 190663690 190672669 + 185789513 185803679 + 30032202 100983745 A0A2R9BG12 MODEL JARIFH010000001;XM_003814211;XM_034946043;XM_034946052;XM_034946055;XM_034946059;XM_034946068;XM_034946077;XM_034946081;XM_034946087;XM_034946092;XM_034946097;XM_055108535 XP_034801934;XP_034801946;XP_034801959;XP_054964510 A0A2R9BG12 SERTA domain-containing protein 4 protein-coding ENSPPAG00000037327 1 190663690 190672666 + 11692029 PNPLA6 patatin like phospholipase domain containing 6 ENCODES a protein that exhibits hydrolase activity (inferred); lysophospholipase activity (inferred); phosphatidyl phospholipase B activity (inferred); INVOLVED IN angiogenesis (ortholog); animal organ morphogenesis (ortholog); ASSOCIATED WITH amenorrhea (ortholog); amyotrophic lateral sclerosis (ortholog); Boucher-Neuhauser syndrome (ortholog); FOUND IN cytosol (inferred); endoplasmic reticulum (inferred); endoplasmic reticulum membrane (inferred) 19 19 19 11324029 11351648 + 7683241 7710444 + 6825299 6852900 + 22301074;30032202 100984736 A0A2R9C3D5;A0A2R9C3F0;A0A2R9CDV0 MODEL JARIFH010000020;XM_008962378;XM_034945799;XM_034945800;XM_034945801;XM_055103333;XM_055103334;XM_055103335 XP_008960626;XP_034801690;XP_034801691;XP_034801692;XP_054959308;XP_054959309;XP_054959310 A0A2R9CDV0 patatin-like phospholipase domain-containing protein 6 protein-coding ENSPPAG00000040772 19 7683789 7710241 + 11692069 ZNF318 zinc finger protein 318 ENCODES a protein that exhibits protein heterodimerization activity (ortholog); INVOLVED IN negative regulation of DNA-templated transcription (inferred); positive regulation of DNA-templated transcription (inferred); ASSOCIATED WITH genetic disease (ortholog); infantile Refsum disease (ortholog); Zellweger syndrome (ortholog); FOUND IN cytosol (inferred); nucleoplasm (inferred); nucleus (inferred) 6 6 6 53706000 53739592 - 44219827 44252553 - 42928050 42961639 - 22301074;30032202 100986434 A0A2R9ACZ3 MODEL JARIFH010000007;XM_003833261;XM_055113626 XP_003833309;XP_054969601 A0A2R9ACZ3 protein-coding ENSPPAG00000029882 6 44219827 44252610 - 11692083 CYLD CYLD lysine 63 deubiquitinase ENCODES a protein that exhibits Met1-linked polyubiquitin deubiquitinase activity (ortholog); INVOLVED IN CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (ortholog); homeostasis of number of cells (ortholog); necroptotic process (ortholog); PARTICIPATES IN nuclear factor kappa B signaling pathway; tumor necrosis factor mediated signaling pathway; ASSOCIATED WITH Brooke-Spiegler syndrome (ortholog); Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-8 (ortholog); genetic disease (ortholog); FOUND IN cytoplasmic microtubule (ortholog); cytoplasmic side of plasma membrane (ortholog); midbody (ortholog) 16 16 16 66104132 66168240 + 49882751 49942629 + 31004393 31064546 + 22301074;30032202 100986446 A0A2R8ZWT8;A0A2R8ZWU5;A0A2R9A0J2;A0A2R9A2C5;A0A2R9A2D3 MODEL JARIFH010000017;XM_003819816;XM_008973219;XM_008973220;XM_034940144;XM_034940145;XM_034940146;XM_034940147;XM_034940148;XM_034940149;XM_055100459;XM_057300129;XR_004666841;XR_004666842;XR_004666843;XR_008621483;XR_008621484;XR_008621485 XP_003819864;XP_034796036;XP_034796037;XP_034796040;XP_054956434;XP_057156112 A0A2R9A2D3 ubiquitin carboxyl-terminal hydrolase CYLD protein-coding ENSPPAG00000027949 16 49882751 49942629 + 11692112 LOC100987278 ubiquitin-conjugating enzyme E2 D4-like 1 1 1 99839635 99840105 + 128777087 128777496 - 125098761 125099231 - 100987278 MODEL JARIFH010000001 ubiquitin-conjugating enzyme E2 D4 pseudogene APPROVED pseudo 11692113 LOC100987671 putative ubiquitin-conjugating enzyme E2 N-like ENCODES a protein that exhibits ATP binding (inferred); nucleotide binding (inferred); transferase activity (inferred); INVOLVED IN protein K63-linked ubiquitination (inferred); protein modification by small protein conjugation (inferred); ubiquitin-dependent protein catabolic process (inferred); FOUND IN nucleus (inferred) X X X 143299703 143300889 + 143388703 143389876 + 133006851 133008001 + 30032202 100987671 A0A2R9A3B8 MODEL JARIFH010000024;XM_003816807 XP_003816855 A0A2R9A3B8 UBE2NL ubiquitin-conjugating enzyme E2N-like protein-coding ENSPPAG00000028330 11692118 JADE1 jade family PHD finger 1 ENCODES a protein that exhibits histone H3K14 acetyltransferase activity (ortholog); histone H4K12 acetyltransferase activity (ortholog); histone H4K16 acetyltransferase activity (ortholog); INVOLVED IN negative regulation of G1/S transition of mitotic cell cycle (ortholog); ASSOCIATED WITH genetic disease (ortholog); FOUND IN cytosol (ortholog); histone acetyltransferase complex (ortholog) 4 4 4 126836180 126901814 + 132271559 132336620 + 120969668 121035282 + 30032202 100988167 A0A2R8ZVI5;A0A2R8ZVJ6;A0A2R9A138 MODEL JARIFH010000005;XM_003823110;XM_003823111;XM_008976713;XM_008976715;XM_014344728;XM_014344729;XM_014344730;XM_014344732;XM_034959134;XM_034959135;XM_034959136;XM_034959137;XM_034959138;XM_055111828 XP_003823158;XP_003823159;XP_008974961;XP_008974963;XP_014200214;XP_014200215;XP_014200216;XP_014200218;XP_034815025;XP_034815028;XP_034815029;XP_054967803 A0A2R8ZVI5 PHF17 PHD finger protein 17 protein-coding ENSPPAG00000027693 4 132272642 132336620 + 11692163 SFXN1 sideroflexin 1 ENCODES a protein that exhibits L-alanine transmembrane transporter activity (inferred); L-serine transmembrane transporter activity (inferred); monoatomic ion transmembrane transporter activity (inferred); INVOLVED IN erythrocyte differentiation (ortholog); iron ion transport (ortholog); one-carbon metabolic process (ortholog); ASSOCIATED WITH Animal Disease Models (ortholog); Colorectal Neoplasms (ortholog); genetic disease (ortholog); FOUND IN membrane (inferred); mitochondrial inner membrane (inferred); mitochondrial membrane (inferred) 5 5 5 168748446 168798866 + 177726518 177776344 + 170825507 170876741 + 22301074;30032202 100988675 A0A2R9BAN6 MODEL JARIFH010000006;XM_034960984;XM_034960985;XM_034960986;XM_034960987;XM_034960988;XM_034960989;XM_057302380 XP_034816875;XP_034816876;XP_034816877;XP_034816879;XP_057158363 A0A2R9BAN6 sideroflexin-1 protein-coding ENSPPAG00000036199 5 177738961 177775212 + 11692181 ZNF555 zinc finger protein 555 ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN regulation of DNA-templated transcription (inferred); ASSOCIATED WITH genetic disease (ortholog); Neurodevelopmental Disorders (ortholog) 19 19 19 6468324 6487392 + 2844288 2853162 + 1891975 1903601 + 30032202 100989713 A0A2R9CP88 MODEL JARIFH010000020;XM_055103660;XM_055103661;XM_057300618 XP_054959635;XP_054959636;XP_057156601 A0A2R9CP88 ZNF556 zinc finger protein 556 APPROVED protein-coding ENSPPAG00000015477;ENSPPAG00000042762 19;19 2817142;2844288 2831994;2853150 +;+ 11692191 HSPB1 heat shock protein family B (small) member 1 ENCODES a protein that exhibits ubiquitin binding (ortholog); INVOLVED IN cellular response to butyrate (ortholog); cellular response to hydrogen peroxide (ortholog); cellular response to interleukin-11 (ortholog); ASSOCIATED WITH acute myeloid leukemia (ortholog); Alzheimer's disease (ortholog); Brain Injuries (ortholog); FOUND IN axon (ortholog); cardiac myofibril (ortholog); cornified envelope (ortholog) 7 7 7 141913908 141916004 - 82751385 82753109 + 67716021 67717762 - 30032202 100989754 A0A2R9BIJ2 MODEL JARIFH010000008;XM_003846008 XP_003846056 A0A2R9BIJ2 heat shock protein beta-1 protein-coding ENSPPAG00000037757 7 82751523 82752984 + 11692198 WWP1 WW domain containing E3 ubiquitin protein ligase 1 ENCODES a protein that exhibits transferase activity (inferred); ubiquitin protein ligase activity (inferred); ubiquitin-protein transferase activity (inferred); INVOLVED IN negative regulation of DNA-templated transcription (ortholog); proteasome-mediated ubiquitin-dependent protein catabolic process (ortholog); PARTICIPATES IN transforming growth factor-beta Smad dependent signaling pathway; ASSOCIATED WITH genetic disease (ortholog); Wolff-Parkinson-White syndrome (ortholog) 8 8 8 79285404 79410164 + 85009945 85134671 + 83039632 83165010 + 22301074 100990521 A0A2R9BAH3;A0A2R9BBW4 MODEL JARIFH010000009;XM_003821155;XM_008974632;XM_008974633 XP_003821203;XP_008972880;XP_008972881 A0A2R9BAH3 NEDD4-like E3 ubiquitin-protein ligase WWP1 protein-coding ENSPPAG00000036385 8 85009951 85134671 + 11692234 ZDHHC1 zinc finger DHHC-type containing 1 ENCODES a protein that exhibits acyltransferase activity (inferred); palmitoyltransferase activity (inferred); protein-cysteine S-palmitoyltransferase activity (inferred); INVOLVED IN antiviral innate immune response (inferred); positive regulation of defense response to virus by host (inferred); positive regulation of protein localization to endosome (inferred); ASSOCIATED WITH autosomal dominant dyskeratosis congenita 6 (ortholog); genetic disease (ortholog); FOUND IN endoplasmic reticulum (ortholog); endoplasmic reticulum membrane (ortholog); Golgi apparatus (ortholog) 16 16 16 82836755 82858767 - 67129090 67150646 - 47739857 47761887 - 30032202 100993439 A0A2R9AC46 MODEL JARIFH010000017;XM_034940431;XM_034940432;XM_034940433;XM_034940434;XM_034940435;XM_055100329;XM_055100330;XM_055100331 XP_034796322;XP_034796323;XP_034796324;XP_054956304;XP_054956305;XP_054956306 A0A2R9AC46 palmitoyltransferase ZDHHC1;probable palmitoyltransferase ZDHHC1 protein-coding ENSPPAG00000030585 16 67129091 67142001 - 11692253 CLDN6 claudin 6 ENCODES a protein that exhibits virus receptor activity (ortholog); INVOLVED IN cell-cell junction organization (ortholog); ASSOCIATED WITH epilepsy (ortholog); genetic disease (ortholog); idiopathic generalized epilepsy (ortholog); FOUND IN apicolateral plasma membrane (ortholog); bicellular tight junction (ortholog); plasma membrane (ortholog) 16 16 16 7337886 7341507 - 3128951 3132503 - 1956556 1960177 - 22301074;30032202 100993728 MODEL JARIFH010000017;XM_003804688 XP_003804736 claudin-6 protein-coding 11692259 NEFL neurofilament light chain ENCODES a protein that exhibits phospholipase binding (ortholog); protein domain specific binding (ortholog); protein-containing complex binding (ortholog); INVOLVED IN axonogenesis (ortholog); cerebral cortex development (ortholog); hippocampus development (ortholog); ASSOCIATED WITH acute disseminated encephalomyelitis (ortholog); AIDS Dementia Complex (ortholog); Alzheimer's disease (ortholog); FOUND IN axon (ortholog); cholinergic synapse (ortholog); growth cone (ortholog) 8 8 8 19192463 19198032 - 21134533 21140694 - 24218510 24224627 - 22301074;30032202 100993744 A0A2R9BTF6;A0A2R9BTG3 MODEL JARIFH010000009;XM_003823564 XP_003823612 A0A2R9BTF6 neurofilament light;neurofilament light polypeptide;neurofilament, light polypeptide APPROVED protein-coding ENSPPAG00000039333 8 21134533 21140694 - 11692268 MIR95 microRNA mir-95 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 8214550 8214630 - 8069273 8069353 - 15652478;16381832 102466286 PROVISIONAL JARIFH010000005;NR_106552 ppa-mir-95 microRNA 95 APPROVED ncrna ENSPPAG00000009896 4 8069273 8069353 - 11692277 LOC103785172 uncharacterized LOC103785172 10 10 10 90327035 90477407 + 77426166 77430186 + 74762774 74843911 + 103785172 MODEL JARIFH010000011;XR_004664726;XR_610861 LOC117974646 uncharacterized LOC117974646 PROVISIONAL ncrna 11692281 LOC103785636 triosephosphate isomerase-like 4 4 4 79109472 79110103 + 83865329 83865837 + 73137120 73137751 + 103785636 MODEL JARIFH010000005 pseudo 11692282 LOC106634466 uncharacterized LOC106634466 2A 2A 2A 59063448 59072075 - 68521780 68524104 + 67398929 67401254 + 106634466 MODEL JARIFH010000002;XR_001337844;XR_008624345;XR_008624346 LOC106634465 uncharacterized LOC106634465 PROVISIONAL ncrna 11692286 LOC106635415 cytochrome c-like 13 13 13 10211628 10211945 - 19114956 19115273 - 796073 796390 - 22301074;30032202 106635415 MODEL JARIFH010000014;XM_014347383 XP_014202869 protein-coding 11692289 LOC100967393 60S ribosomal protein L9-like 17 17 17 18376638 18377273 + 9030732 9031323 + 8845119 8845741 + 100967393 MODEL JARIFH010000018 pseudo 11692290 MSI2 musashi RNA binding protein 2 ENCODES a protein that exhibits identical protein binding (inferred); nucleic acid binding (inferred); poly(U) RNA binding (inferred); INVOLVED IN stem cell development (inferred); ASSOCIATED WITH genetic disease (ortholog); intellectual disability (ortholog); Joubert syndrome 1 (ortholog); FOUND IN cytoplasm (inferred); cytosol (inferred); intracellular membrane-bounded organelle (inferred) 17 17 17 78242455 78670376 + 56194337 56621330 + 51335550 51763572 + 22301074;30032202 100967782 A0A2R9BIE0;A0A2R9BJ72;A0A2R9BS58 MODEL JARIFH010000018;XM_034942534;XM_034942535;XM_034942536;XM_034942537;XM_034942538;XM_034942539;XM_055102159;XM_055102160;XR_004667262;XR_004667263 XP_034798425;XP_034798426;XP_034798427;XP_034798428;XP_034798430;XP_054958134;XP_054958135 A0A2R9BIE0 RNA-binding protein Musashi homolog 2;musashi homolog 2 protein-coding ENSPPAG00000037697 17 56194360 56613698 + 11692314 PGBD4 piggyBac transposable element derived 4 ASSOCIATED WITH Bloom syndrome (ortholog); colorectal cancer (ortholog); genetic disease (ortholog) 15 15 15 27606786 27611880 + 31446355 31448735 + 12611489 12617110 + 100968845 MODEL JARIFH010000016;XM_003804951 XP_003804999 piggyBac transposable element-derived protein 4 protein-coding 11692319 ZMYND12 zinc finger MYND-type containing 12 ENCODES a protein that exhibits metal ion binding (inferred); ASSOCIATED WITH Charcot-Marie-Tooth disease dominant intermediate C (ortholog); genetic disease (ortholog) 1 1 1 183497096 183525030 + 43110204 43136487 - 41725736 41756324 - 22301074 100969022 A0A2R9B9S1;A0A2R9B9S4 MODEL JARIFH010000001;XM_003812878;XM_034962715;XM_057299200;XR_004672118;XR_610843 XP_003812926;XP_057155183 A0A2R9B9S1 zinc finger MYND domain-containing protein 12 protein-coding ENSPPAG00000036047 1 43110890 43136487 - 11692338 ZNF662 zinc finger protein 662 ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN regulation of DNA-templated transcription (inferred); ASSOCIATED WITH congenital muscular dystrophy-dystroglycanopathy type A8 (ortholog); genetic disease (ortholog) 3 3 3 42870900 42884990 + 43871977 43883719 + 42809150 42823194 + 30032202 100969582 A0A2R9CB85;A0A2R9CB97;A0A2R9CDZ5 MODEL JARIFH010000004;XM_014344200;XM_034956218;XM_034956219;XM_034956220;XM_034956222;XM_034956223;XM_034956224;XM_034956225;XM_034956226;XM_055109741 XP_014199686;XP_034812109;XP_034812110;XP_034812111;XP_034812113;XP_034812114;XP_034812116;XP_034812117;XP_054965716 A0A2R9CB85 protein-coding ENSPPAG00000042324 3 43872164 43883699 + 11692346 ECE1 endothelin converting enzyme 1 ENCODES a protein that exhibits identical protein binding (ortholog); INVOLVED IN blood vessel diameter maintenance (ortholog); pharyngeal system development (ortholog); positive regulation of cAMP-mediated signaling (ortholog); PARTICIPATES IN endothelin signaling pathway; ASSOCIATED WITH 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (ortholog); acute kidney failure (ortholog); Alzheimer's disease (ortholog); FOUND IN early endosome (ortholog); plasma membrane (ortholog); secretory granule (ortholog) 1 1 1 204895167 205022339 + 21206199 21278909 - 20166019 20290803 - 22301074;30032202 100969625 A0A2R8ZZ60;A0A2R8ZZ71;A0A2R9A0A0 MODEL JARIFH010000001;XM_003814395;XM_034957437 XP_003814443;XP_034813328 A0A2R8ZZ60 endothelin-converting enzyme 1 protein-coding ENSPPAG00000028307 1 21206199 21278909 - 11692368 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha ENCODES a protein that exhibits cAMP binding (ortholog); cAMP-dependent protein kinase regulator activity (ortholog); INVOLVED IN cardiac muscle cell proliferation (ortholog); female meiotic nuclear division (ortholog); heart development (ortholog); PARTICIPATES IN acebutolol pharmacodynamics pathway; adrenergic beta receptor agonist and beta-blocker pharmacodynamics pathway; amiodarone pharmacodynamics pathway; ASSOCIATED WITH acrodysostosis (ortholog); Acrodysostosis 1, with or without Hormone Resistance (ortholog); acute promyelocytic leukemia (ortholog); FOUND IN axoneme (ortholog); cAMP-dependent protein kinase complex (ortholog); cytoplasm (ortholog) 17 17 17 89361347 89382523 + 67838484 67859610 + 62448718 62488493 + 22301074 100969690 A0A2R9AQD9;A0A2R9AX54 MODEL JARIFH010000018;XM_003808936;XM_003808937;XM_003808938;XM_008961088;XM_034942785 XP_003808984;XP_003808985;XP_003808986;XP_008959336 A0A2R9AQD9 cAMP-dependent protein kinase type I-alpha regulatory subunit;protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1) protein-coding ENSPPAG00000032989 17 67838484 67877943 + 11692391 LOC100970807 tubulin beta-8 chain-like 1 7 226069127 226131820 - 162609782 162613331 - 22301074;30032202 100970807 MODEL JARIFH010000001;XM_055100140;XM_055100144;XM_055100147;XM_055100155;XM_055100162;XM_055100170;XM_055100176;XR_001338372 XP_054956115;XP_054956119;XP_054956122;XP_054956130;XP_054956137;XP_054956145;XP_054956151 LOC100975989 tubulin beta chain-like;uncharacterized LOC100975989 APPROVED protein-coding 11692392 CPNE7 copine 7 ENCODES a protein that exhibits calcium-dependent phospholipid binding (inferred); INVOLVED IN cellular response to calcium ion (inferred); ASSOCIATED WITH 16Q24.3 Microdeletion Syndrome (ortholog); autosomal recessive chronic granulomatous disease 4 (ortholog); Fanconi anemia (ortholog); FOUND IN cytoplasm (inferred); nucleus (inferred); plasma membrane (inferred) 16 16 16 105276736 105298863 + 89937091 89951891 + 70327952 70349898 + 30032202 100972517 A0A2R9AQC6;A0A2R9AQY1 MODEL JARIFH010000017;XM_034941120;XM_034941121;XM_055099325;XR_004667049 XP_034797011;XP_034797012;XP_054955300 A0A2R9AQC6 LOC100972517;LOC112437426 copine-7;copine-7-like APPROVED protein-coding ENSPPAG00000032990 16 89936172 89955115 + 11692410 TMEM131 transmembrane protein 131 ASSOCIATED WITH genetic disease (ortholog); FOUND IN membrane (inferred) 2A 2A 2A 30459938 30702089 + 98655806 98829968 - 101324486 101566669 + 30032202 100973219 A0A2R8ZUT0;A0A2R9A0F1 MODEL JARIFH010000002;XM_034953707;XM_034953708;XM_034953709;XM_055107628 XP_034809598;XP_034809599;XP_034809600;XP_054963603 A0A2R8ZUT0 protein-coding ENSPPAG00000027555 2A 98656578 98830023 - 11692456 LOC100973530 olfactory receptor 8B2-like ENCODES a protein that exhibits G protein-coupled receptor activity (inferred); olfactory receptor activity (inferred); INVOLVED IN detection of chemical stimulus involved in sensory perception of smell (inferred); G protein-coupled receptor signaling pathway (inferred); sensory perception of smell (inferred); FOUND IN membrane (inferred); plasma membrane (inferred) 11 11 11 126182415 126184521 - 123124759 123139653 - 119209077 119241801 - 22301074;30032202 100973530 A0A2R8ZQM8 MODEL JARIFH010000012;XM_024930840;XM_034933940;XM_057299283 XP_057155266 A0A2R8ZQM8 protein-coding ENSPPAG00000025773 11692465 NEK5 NIMA related kinase 5 ENCODES a protein that exhibits ATP binding (inferred); nucleotide binding (inferred); protein kinase activity (inferred); INVOLVED IN positive regulation of striated muscle cell differentiation (ortholog); ASSOCIATED WITH chromosome 13q14 deletion syndrome (ortholog); genetic disease (ortholog); intellectual disability (ortholog) 13 13 13 52114834 52208481 - 51938293 51999960 - 33166069 33260990 - 22301074;30032202 100973939 A0A2R9C9D1 MODEL JARIFH010000014;XM_034936746;XM_034936747;XM_055096809;XM_055096810 XP_034792637;XP_034792638;XP_054952784;XP_054952785 A0A2R9C9D1 serine/threonine-protein kinase Nek5 protein-coding ENSPPAG00000041915 13 51938342 51998357 - 11692490 SDHC succinate dehydrogenase complex subunit C ENCODES a protein that exhibits heme binding (ortholog); INVOLVED IN electron transport chain (inferred); tricarboxylic acid cycle (inferred); PARTICIPATES IN citric acid cycle pathway; electron transport chain pathway; fumaric aciduria pathway; ASSOCIATED WITH autoimmune interstitial lung, joint, and kidney disease (ortholog); breast cancer (ortholog); Carney Triad (ortholog); FOUND IN mitochondrial inner membrane (ortholog); mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) (ortholog); mitochondrion (ortholog) 1 1 1 88181669 88232415 - 140635250 140683390 + 136724663 136773038 + 22301074;30032202 100974183 A0A2R9A5E7;A0A2R9A6J7;A0A2R9A6K0;A0A2R9AAN5 MODEL JARIFH010000001;XM_003811822;XM_008964205;XM_008964207;XM_008964209;XM_055112347;XM_057302285 XP_003811870;XP_008962453;XP_008962455;XP_008962457;XP_054968322;XP_057158268 A0A2R9A6K0 succinate dehydrogenase cytochrome b560 subunit, mitochondrial protein-coding ENSPPAG00000029435 1 140635685 140682736 + 11692509 SLC22A10 solute carrier family 22 member 10 ENCODES a protein that exhibits transmembrane transporter activity (inferred); INVOLVED IN transmembrane transport (inferred); ASSOCIATED WITH genetic disease (ortholog); glioblastoma (ortholog); hepatocellular carcinoma (ortholog); FOUND IN membrane (inferred) 11 11 11 65560382 65633341 + 61997163 62019507 + 58573286 58668946 + 22301074;30032202 100974185 A0A2R9C0P2;A0A2R9CA90 MODEL JARIFH010000012;XM_034932815;XM_055094430;XM_057299166 XP_054950405;XP_057155149 A0A2R9CA90 protein-coding ENSPPAG00000040455 11 61997429 62018738 + 11692532 LOC100974468 cilia- and flagella-associated protein 144-like 2A 2A 2A 25663237 25664714 + 103299805 103300774 - 99512809 99513641 - 100974468 MODEL JARIFH010000002 APPROVED pseudo 11692533 LOC100974891 homeobox protein NANOG-like 14 14 14 91968445 91970388 - 91574217 91575134 - 72229074 72230299 - 100974891 MODEL JARIFH010000015 homeobox protein NANOG pseudogene APPROVED pseudo 11692534 C2CD4C C2 calcium dependent domain containing 4C ASSOCIATED WITH genetic disease (ortholog); FOUND IN cytosol (ortholog) 19 19 3956193 3960811 - 356073 359067 - 100975121 A0A2R8ZDE8 MODEL JARIFH010000020;XM_003821655;XM_034950970;XM_055103177 XP_034806861;XP_054959152 A0A2R8ZDE8 C2 calcium-dependent domain-containing protein 4C protein-coding ENSPPAG00000002609 19 357716 358981 - 11692539 WASHC5 WASH complex subunit 5 INVOLVED IN lysosome organization (ortholog); positive regulation of neuron projection development (ortholog); protein-containing complex localization (ortholog); PARTICIPATES IN retromer-mediated pathway; ASSOCIATED WITH genetic disease (ortholog); hereditary spastic paraplegia (ortholog); hereditary spastic paraplegia 10 (ortholog); FOUND IN neuronal cell body (ortholog) 8 8 8 117958154 118026003 - 124461424 124529262 - 121710118 121777977 - 22301074;30032202 100975560 A0A2R9BF54;A0A2R9BHS1 MODEL JARIFH010000009;XM_003820458;XM_008973917;XM_055116944;XR_004673068 XP_003820506;XP_008972165;XP_054972919 A0A2R9BF54 KIAA0196 WASH complex subunit strumpellin protein-coding ENSPPAG00000036975 8 124461424 124529262 - 11692580 COL4A1 collagen type IV alpha 1 chain ENCODES a protein that exhibits extracellular matrix structural constituent (inferred); extracellular matrix structural constituent conferring tensile strength (inferred); platelet-derived growth factor binding (inferred); INVOLVED IN cellular response to amino acid stimulus (ortholog); collagen-activated tyrosine kinase receptor signaling pathway (ortholog); epithelial cell differentiation (ortholog); PARTICIPATES IN syndecan signaling pathway; ASSOCIATED WITH Agenesis of Corpus Callosum (ortholog); Anal Atresia, Hypospadias, and Penoscrotal Inversion (ortholog); anterior segment dysgenesis (ortholog); FOUND IN basement membrane (inferred); collagen trimer (inferred); collagen type IV trimer (inferred) 13 13 13 110324917 110482747 - 110407009 110562529 - 91282617 91440187 - 22301074 100976901 A0A2R8ZQ62 MODEL JARIFH010000014;XM_003832082;XM_034936976;XM_034936977 XP_003832130;XP_034792867;XP_034792868 A0A2R8ZQ62 collagen alpha-1(IV) chain protein-coding ENSPPAG00000026177 13 110407009 110562529 - 11692646 NUDT5 nudix hydrolase 5 ENCODES a protein that exhibits 5'-(N(7)-methylguanosine 5'-triphospho)-[mRNA] hydrolase activity (ortholog); nucleoside diphosphate phosphatase activity (ortholog); snoRNA binding (ortholog); INVOLVED IN nucleobase-containing compound metabolic process (ortholog); PARTICIPATES IN adenine phoshoribosyltransferase deficiency pathway; adenosine monophosphate deaminase deficiency pathway; adenylosuccinate lyase deficiency pathway; ASSOCIATED WITH genetic disease (ortholog); hypoparathyroidism-deafness-renal disease syndrome (ortholog); FOUND IN nucleus (inferred) 10 10 10 24705260 24733527 - 12155747 12186679 - 12177922 12206435 - 30032202 100977876 A0A2R9B364;A0A2R9B4Q2 MODEL JARIFH010000011;XM_003827817;XM_034929950;XM_055092410;XM_055092411 XP_003827865;XP_054948385;XP_054948386 A0A2R9B4Q2 ADP-sugar pyrophosphatase protein-coding ENSPPAG00000035132 10 12158106 12176533 - 11692660 TMEM126A transmembrane protein 126A INVOLVED IN toll-like receptor 4 signaling pathway (ortholog); ASSOCIATED WITH exudative vitreoretinopathy 1 (ortholog); genetic disease (ortholog); Hereditary Optic Atrophies (ortholog); FOUND IN membrane (inferred); mitochondrion (inferred); plasma membrane (inferred) 11 11 11 87620767 87630548 + 84312434 84321037 + 80703855 80712459 + 30032202 100978373 A0A2R9AB75 MODEL JARIFH010000012;XM_003832963;XM_034933479 XP_003833011;XP_034789370 A0A2R9AB75 protein-coding ENSPPAG00000030419 11 84312434 84321037 + 11692669 DPH7 diphthamide biosynthesis 7 INVOLVED IN protein histidyl modification to diphthamide (inferred); ASSOCIATED WITH Adams-Oliver Syndrome 5 (ortholog); autosomal dominant intellectual developmental disorder 8 (ortholog); developmental and epileptic encephalopathy 14 (ortholog) 9 9 9 1781197 1826439 + 137597629 137627000 - 108635082 108680315 - 22301074 100978692 A0A2R9AU22;A0A2R9AY04 MODEL JARIFH010000010;XM_003817043;XM_008970149;XM_024930100;XM_034929658;XM_034929659;XM_034929660;XM_034929661;XM_034929662 XP_003817091;XP_008968397;XP_024785868;XP_034785549;XP_034785550;XP_034785551;XP_034785553 A0A2R9AU22 WDR85 WD repeat domain 85;diphthine methyltransferase protein-coding ENSPPAG00000033565 9 137597639 137627279 - 11692686 TCAP titin-cap ENCODES a protein that exhibits molecular adaptor activity (ortholog); INVOLVED IN adult heart development (inferred); cardiac muscle cell development (inferred); cardiac muscle contraction (inferred); ASSOCIATED WITH autosomal recessive limb-girdle muscular dystrophy type 2G (ortholog); Brugada syndrome (ortholog); cardiomyopathy (ortholog); FOUND IN I band (inferred); Z disc (inferred) 17 17 17 27183653 27186577 - 17839139 17841500 - 17622318 17625252 - 30032202 100979581 A0A2R8ZJI7;A0A2R8ZMI6 MODEL JARIFH010000018;XM_008956814 XP_008955062 A0A2R8ZJI7 telethonin;titin-cap (telethonin) protein-coding ENSPPAG00000021451 17 17839139 17842727 - 11692692 USP26 ubiquitin specific peptidase 26 ENCODES a protein that exhibits cysteine-type deubiquitinase activity (inferred); cysteine-type peptidase activity (inferred); deubiquitinase activity (inferred); INVOLVED IN negative regulation of proteasomal ubiquitin-dependent protein catabolic process (inferred); proteolysis (inferred); regulation of androgen receptor signaling pathway (inferred); ASSOCIATED WITH autistic disorder (ortholog); genetic disease (ortholog); syndromic X-linked intellectual disability Lubs type (ortholog); FOUND IN cytosol (inferred); nucleoplasm (inferred); nucleus (inferred) X X X 132436775 132497371 - 132463139 132465933 - 122155933 122160000 - 22301074 100979806 A0A2R8ZF88 MODEL JARIFH010000024;XM_003814497 XP_003814545 A0A2R8ZF88 ubiquitin carboxyl-terminal hydrolase 26 protein-coding ENSPPAG00000005589 X 132463140 132465887 - 11692697 IFTAP intraflagellar transport associated protein ENCODES a protein that exhibits intraciliary transport particle A binding (inferred); INVOLVED IN acrosome reaction (ortholog); fertilization (ortholog); spermatogenesis (ortholog); ASSOCIATED WITH combined cellular and humoral immune defects with granulomas (ortholog); COVID-19 (ortholog); histiocytic sarcoma (ortholog); FOUND IN 9+0 non-motile cilium (inferred); cytosol (inferred) 11 11 11 38813337 38876353 + 36433550 36496487 + 36560918 36623870 + 30032202 100982065 A0A2R8ZN05 MODEL JARIFH010000012;XM_003830351;XM_008955825;XM_008955826;XM_008955827;XM_008955829;XM_008955831;XM_008955832;XM_057299142;XM_057299143 XP_003830399;XP_008954073;XP_008954074;XP_008954075;XP_008954077;XP_057155125;XP_057155126 A0A2R8ZN05 C11H11orf74 chromosome 11 C11orf74 homolog;uncharacterized protein C11orf74 homolog APPROVED protein-coding ENSPPAG00000024881 11 36433630 36496483 + 11692726 HAUS2 HAUS augmin like complex subunit 2 INVOLVED IN centrosome cycle (inferred); microtubule organizing center organization (inferred); spindle assembly (inferred); ASSOCIATED WITH Bloom syndrome (ortholog); colorectal cancer (ortholog); genetic disease (ortholog); FOUND IN HAUS complex (ortholog) 15 15 15 35956633 35978105 + 39666043 39683322 + 21510173 21531733 + 22301074;30032202 100982889 A0A2R9BP96;A0A2R9BPB1;A0A2R9BPB6;A0A2R9BQ02;A0A2R9BQ06 MODEL JARIFH010000016;XM_003805601;XM_008973193;XM_024925651;XM_034938585;XM_034938586;XM_034938587;XM_034938589;XM_034938590;XM_034938591;XM_055098326;XM_055098327;XM_055098328;XR_004666488 XP_003805649;XP_008971441;XP_024781419;XP_034794478;XP_034794481;XP_054954301;XP_054954302;XP_054954303 A0A2R9BP96 HAUS augmin-like complex subunit 2 protein-coding ENSPPAG00000038683 15 39666043 39683322 + 11692739 LOC100983018 PEST proteolytic signal-containing nuclear protein-like X X X 75193245 75194702 - 74903086 74904243 - 64791049 64792506 - 100983018 MODEL JARIFH010000024 pseudo 11692741 ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase ENCODES a protein that exhibits alpha-1,3-mannosyltransferase activity (inferred); calcium-dependent protein binding (inferred); GDP-Man:Man1GlcNAc2-PP-Dol alpha-1,3-mannosyltransferase activity (inferred); INVOLVED IN dolichol-linked oligosaccharide biosynthetic process (inferred); protein glycosylation (inferred); response to calcium ion (inferred); ASSOCIATED WITH congenital disorder of glycosylation (ortholog); congenital disorder of glycosylation Ii (ortholog); congenital disorder of glycosylation type II (ortholog); FOUND IN cytoplasm (inferred); membrane (inferred); nucleus (inferred) 9 9 9 40238131 40242676 + 98424958 98430698 - 70306294 70311897 - 30032202 100984805 A0A2R8ZUZ7;A0A2R8ZYD4 MODEL JARIFH010000010;XM_003820631 XP_003820679 A0A2R8ZYD4 ALG2, alpha-1,3/1,6-mannosyltransferase;alpha-1,3/1,6-mannosyltransferase ALG2;asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog APPROVED protein-coding ENSPPAG00000027633 9 98424958 98430698 - 11692747 CLINT1 clathrin interactor 1 ENCODES a protein that exhibits clathrin binding (ortholog); INVOLVED IN clathrin coat assembly (ortholog); ASSOCIATED WITH genetic disease (ortholog); FOUND IN clathrin-coated vesicle (ortholog) 5 5 5 151109395 151185594 - 159794802 159870778 - 153174681 153251104 - 30032202 100986231 A0A2R9AWL3;A0A2R9B2B6 MODEL JARIFH010000006;XM_003818995;XM_003818996 XP_003819043;XP_003819044 A0A2R9AWL3 protein-coding ENSPPAG00000033967 5 159794802 159871293 - 11692772 MBTPS2 membrane bound transcription factor peptidase, site 2 ENCODES a protein that exhibits metalloendopeptidase activity (inferred); INVOLVED IN bone maturation (inferred); membrane protein intracellular domain proteolysis (inferred); mitotic G2 DNA damage checkpoint signaling (inferred); PARTICIPATES IN sterol regulatory element-binding protein signaling pathway; ASSOCIATED WITH autistic disorder (ortholog); genetic disease (ortholog); hepatocellular carcinoma (ortholog); FOUND IN cytoplasm (inferred); membrane (inferred) X X X 23651590 23713273 + 21825780 21871381 + 14470268 14529854 + 22301074;30032202 100988592 A0A2R9ARM8;A0A2R9AY97 MODEL JARIFH010000024;XM_003819564;XM_034950718;XM_057301060 XP_034806609;XP_057157043 A0A2R9AY97 membrane-bound transcription factor site-2 protease protein-coding ENSPPAG00000033207 X 21825780 21883550 + 11692787 LOC100991406 POTE ankyrin domain family member G 2B 2B 2B 45539535 45578049 + 131300285 131429033 - 29074877 29342769 - 30032202 100991406 MODEL JARIFH010000003;XM_034954171;XM_055109399;XM_055109400 XP_054965374;XP_054965375 POTEI POTE ankyrin domain family member E;POTE ankyrin domain family, member I;putative POTE ankyrin domain family member M APPROVED protein-coding 11692792 POMT2 protein O-mannosyltransferase 2 ENCODES a protein that exhibits dolichyl-phosph