{ "url": "https://dantelabs.com/genes/atp6v0a1", "gene": { "slug": "atp6v0a1", "symbol": "ATP6V0A1", "name": "ATPase H+ transporting V0 subunit a1", "hgnc": "HGNC:865", "summary": null, "location": "17q21.2", "locusType": "gene with protein product", "aliases": [ "a1", "Vph1", "Stv1" ], "previousSymbols": [ "VPP1", "ATP6N1", "ATP6N1A" ], "ensemblId": "ENSG00000033627", "entrezId": 535, "omim": [ "192130" ], "uniprot": [ "Q93050" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "17", "start": 42458878, "end": 42522579, "strand": "+", "ensemblTranscript": "ENST00000343619.9", "refseqTranscript": "NM_001130021.3", "ensemblProtein": "ENSP00000342951.3", "refseqProtein": "NP_001123493.1", "exons": [ { "start": 42458878, "end": 42458963 }, { "start": 42460848, "end": 42461011 }, { "start": 42466429, "end": 42466507 }, { "start": 42468010, "end": 42468107 }, { "start": 42470090, "end": 42470218 }, { "start": 42477660, "end": 42477742 }, { "start": 42478463, "end": 42478589 }, { "start": 42480667, "end": 42480749 }, { "start": 42483038, "end": 42483131 }, { "start": 42487155, "end": 42487367 }, { "start": 42490487, "end": 42490637 }, { "start": 42494334, "end": 42494473 }, { "start": 42495034, "end": 42495188 }, { "start": 42495626, "end": 42495716 }, { "start": 42498924, "end": 42499042 }, { "start": 42500707, "end": 42500923 }, { "start": 42501197, "end": 42501304 }, { "start": 42507520, "end": 42507627 }, { "start": 42508572, "end": 42508589 }, { "start": 42513861, "end": 42513978 }, { "start": 42514289, "end": 42514460 }, { "start": 42521027, "end": 42522579 } ], "cds": { "start": 42460895, "end": 42521120 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "17", "start": 40610862, "end": 40674629, "strand": "+" }, "neighbourhood": { "release": "116", "start": 41990729, "end": 42990728, "genes": [ { "symbol": "DNAJC7", "ensemblId": "ENSG00000168259", "biotype": "protein_coding", "start": 41974005, "end": 42021376, "strand": "-", "slug": "dnajc7" }, { "symbol": "NKIRAS2", "ensemblId": "ENSG00000168256", "biotype": "protein_coding", "start": 42011382, "end": 42025644, "strand": "+", "slug": "nkiras2" }, { "symbol": "ZNF385C", "ensemblId": "ENSG00000187595", "biotype": "protein_coding", "start": 42025576, "end": 42098479, "strand": "-", "slug": "znf385c" }, { "symbol": "C17orf113", "ensemblId": "ENSG00000267221", "biotype": "protein_coding", "start": 42038232, "end": 42050601, "strand": "-", "slug": "c17orf113" }, { "symbol": "DHX58", "ensemblId": "ENSG00000108771", "biotype": "protein_coding", "start": 42101404, "end": 42112735, "strand": "-", "slug": "dhx58" }, { "symbol": "KAT2A", "ensemblId": "ENSG00000108773", "biotype": "protein_coding", "start": 42113109, "end": 42121382, "strand": "-", "slug": "kat2a" }, { "symbol": "", "ensemblId": "ENSG00000267261", "biotype": "protein_coding", "start": 42119674, "end": 42154916, "strand": "-" }, { "symbol": "HSPB9", "ensemblId": "ENSG00000260325", "biotype": "protein_coding", "start": 42122804, "end": 42123352, "strand": "+", "slug": "hspb9" }, { "symbol": "RAB5C", "ensemblId": "ENSG00000108774", "biotype": "protein_coding", "start": 42124976, "end": 42155044, "strand": "-", "slug": "rab5c" }, { "symbol": "KCNH4", "ensemblId": "ENSG00000089558", "biotype": "protein_coding", "start": 42156891, "end": 42181146, "strand": "-", "slug": "kcnh4" }, { "symbol": "HCRT", "ensemblId": "ENSG00000161610", "biotype": "protein_coding", "start": 42184060, "end": 42185452, "strand": "-", "slug": "hcrt" }, { "symbol": "GHDC", "ensemblId": "ENSG00000167925", "biotype": "protein_coding", "start": 42188799, "end": 42194513, "strand": "-", "slug": "ghdc" }, { "symbol": "STAT5B", "ensemblId": "ENSG00000173757", "biotype": "protein_coding", "start": 42199176, "end": 42288633, "strand": "-", "slug": "stat5b" }, { "symbol": "STAT5A", "ensemblId": "ENSG00000126561", "biotype": "protein_coding", "start": 42287547, "end": 42311943, "strand": "+", "slug": "stat5a" }, { "symbol": "STAT3", "ensemblId": "ENSG00000168610", "biotype": "protein_coding", "start": 42313322, "end": 42388574, "strand": "-", "slug": "stat3" }, { "symbol": "CAVIN1", "ensemblId": "ENSG00000177469", "biotype": "protein_coding", "start": 42402449, "end": 42423322, "strand": "-", "slug": "cavin1" }, { "symbol": "NAGLU", "ensemblId": "ENSG00000108784", "biotype": "protein_coding", "start": 42536216, "end": 42544449, "strand": "+", "slug": "naglu" }, { "symbol": "HSD17B1", "ensemblId": "ENSG00000108786", "biotype": "protein_coding", "start": 42552920, "end": 42555217, "strand": "+", "slug": "hsd17b1" }, { "symbol": "COASY", "ensemblId": "ENSG00000068120", "biotype": "protein_coding", "start": 42561467, "end": 42566277, "strand": "+", "slug": "coasy" }, { "symbol": "MLX", "ensemblId": "ENSG00000108788", "biotype": "protein_coding", "start": 42567067, "end": 42573239, "strand": "+", "slug": "mlx" }, { "symbol": "PSMC3IP", "ensemblId": "ENSG00000131470", "biotype": "protein_coding", "start": 42572310, "end": 42577831, "strand": "-", "slug": "psmc3ip" }, { "symbol": "RETREG3", "ensemblId": "ENSG00000141699", "biotype": "protein_coding", "start": 42579508, "end": 42610623, "strand": "-", "slug": "retreg3" }, { "symbol": "TUBG1", "ensemblId": "ENSG00000131462", "biotype": "protein_coding", "start": 42609411, "end": 42615253, "strand": "+", "slug": "tubg1" }, { "symbol": "TUBG2", "ensemblId": "ENSG00000037042", "biotype": "protein_coding", "start": 42659223, "end": 42667007, "strand": "+", "slug": "tubg2" }, { "symbol": "PLEKHH3", "ensemblId": "ENSG00000068137", "biotype": "protein_coding", "start": 42667914, "end": 42677064, "strand": "-", "slug": "plekhh3" }, { "symbol": "CCR10", "ensemblId": "ENSG00000184451", "biotype": "protein_coding", "start": 42678889, "end": 42683917, "strand": "-", "slug": "ccr10" }, { "symbol": "CNTNAP1", "ensemblId": "ENSG00000108797", "biotype": "protein_coding", "start": 42682368, "end": 42699993, "strand": "+", "slug": "cntnap1" }, { "symbol": "EZH1", "ensemblId": "ENSG00000108799", "biotype": "protein_coding", "start": 42700270, "end": 42745069, "strand": "-", "slug": "ezh1" }, { "symbol": "RAMP2", "ensemblId": "ENSG00000131477", "biotype": "protein_coding", "start": 42758447, "end": 42763537, "strand": "+", "slug": "ramp2" }, { "symbol": "VPS25", "ensemblId": "ENSG00000131475", "biotype": "protein_coding", "start": 42773439, "end": 42779600, "strand": "+", "slug": "vps25" }, { "symbol": "WNK4", "ensemblId": "ENSG00000126562", "biotype": "protein_coding", "start": 42780593, "end": 42797066, "strand": "+", "slug": "wnk4" }, { "symbol": "COA3", "ensemblId": "ENSG00000183978", "biotype": "protein_coding", "start": 42793154, "end": 42798719, "strand": "-", "slug": "coa3" }, { "symbol": "CNTD1", "ensemblId": "ENSG00000176563", "biotype": "protein_coding", "start": 42798800, "end": 42811587, "strand": "+", "slug": "cntd1" }, { "symbol": "BECN1", "ensemblId": "ENSG00000126581", "biotype": "protein_coding", "start": 42809108, "end": 42833350, "strand": "-", "slug": "becn1" }, { "symbol": "PSME3", "ensemblId": "ENSG00000131467", "biotype": "protein_coding", "start": 42824385, "end": 42843760, "strand": "+", "slug": "psme3" }, { "symbol": "AOC2", "ensemblId": "ENSG00000131480", "biotype": "protein_coding", "start": 42844574, "end": 42850707, "strand": "+", "slug": "aoc2" }, { "symbol": "AOC3", "ensemblId": "ENSG00000131471", "biotype": "protein_coding", "start": 42851130, "end": 42858130, "strand": "+", "slug": "aoc3" }, { "symbol": "G6PC1", "ensemblId": "ENSG00000131482", "biotype": "protein_coding", "start": 42900722, "end": 42923502, "strand": "+", "slug": "g6pc1" }, { "symbol": "AARSD1", "ensemblId": "ENSG00000266967", "biotype": "protein_coding", "start": 42950424, "end": 42964498, "strand": "-", "slug": "aarsd1" }, { "symbol": "PTGES3L-AARSD1", "ensemblId": "ENSG00000108825", "biotype": "protein_coding", "start": 42950526, "end": 42980528, "strand": "-", "slug": "ptges3l-aarsd1" }, { "symbol": "PTGES3L", "ensemblId": "ENSG00000267060", "biotype": "protein_coding", "start": 42968035, "end": 42980502, "strand": "-", "slug": "ptges3l" }, { "symbol": "RUNDC1", "ensemblId": "ENSG00000198863", "biotype": "protein_coding", "start": 42980552, "end": 42995142, "strand": "+", "slug": "rundc1" } ], "truncated": false }, "reports": [ { "slug": "epilepsy-report", "name": "Epilepsy (Full Panel)", "diseases": [ { "mondoId": "MONDO:0005027", "name": "Epilepsy", "genes": 171, "inheritance": null, "description": "A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "G2P", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/conditions/epilepsy-report" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "gastroesophageal-reflux", "name": "Acid reflux", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gastroesophageal-reflux" }, { "slug": "agitation", "name": "Agitation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/agitation" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "atrophy-degeneration-affecting-the-brainstem", "name": "Atrophy/Degeneration affecting the brainstem", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/atrophy-degeneration-affecting-the-brainstem" }, { "slug": "attention-deficit-hyperactivity-disorder", "name": "Attention deficit", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/attention-deficit-hyperactivity-disorder" }, { "slug": "autistic-behavior", "name": "Autism spectrum disorder", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/autistic-behavior" }, { "slug": "mandibular-prognathia", "name": "Big lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/mandibular-prognathia" }, { "slug": "clonic-seizure", "name": "Clonic seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/clonic-seizure" }, { "slug": "cortical-dysplasia", "name": "Cortical dysplasia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cortical-dysplasia" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "delayed-ability-to-roll-over", "name": "Delayed ability to roll over", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/delayed-ability-to-roll-over" }, { "slug": "delayed-ability-to-walk", "name": "Delayed ability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/delayed-ability-to-walk" }, { "slug": "delayed-speech-and-language-development", "name": "Delayed speech and language development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/delayed-speech-and-language-development" }, { "slug": "eeg-with-burst-suppression", "name": "EEG with burst suppression", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/eeg-with-burst-suppression" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "epileptic-spasm", "name": "Epileptic spasm", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/epileptic-spasm" }, { "slug": "erratic-myoclonus", "name": "Erratic myoclonus", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/erratic-myoclonus" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "focal-impaired-awareness-seizure", "name": "Focal impaired awareness seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/focal-impaired-awareness-seizure" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "bilateral-tonic-clonic-seizure", "name": "Grand mal seizures", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure" }, { "slug": "polyhydramnios", "name": "High levels of amniotic fluid", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/polyhydramnios" }, { "slug": "hypsarrhythmia", "name": "Hypsarrhythmia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypsarrhythmia" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "intermittent-diarrhea", "name": "Intermittent diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intermittent-diarrhea" }, { "slug": "myoclonus", "name": "Jerking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/myoclonus" }, { "slug": "malnutrition", "name": "Malnutrition", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/malnutrition" }, { "slug": "hyperactivity", "name": "More active than typical", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperactivity" }, { "slug": "osteoporosis", "name": "Osteoporosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/osteoporosis" }, { "slug": "poor-suck", "name": "Poor suck", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/poor-suck" }, { "slug": "recurrent-aspiration-pneumonia", "name": "Recurrent aspiration pneumonia", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/recurrent-aspiration-pneumonia" }, { "slug": "self-injurious-behavior", "name": "Self-injurious behavior", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/self-injurious-behavior" }, { "slug": "cerebellar-hypoplasia", "name": "Small cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebellar-hypoplasia" }, { "slug": "spastic-tetraplegia", "name": "Spastic tetraplegia", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/spastic-tetraplegia" }, { "slug": "tonic-seizure", "name": "Tonic seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/tonic-seizure" }, { "slug": "visual-impairment", "name": "Visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/visual-impairment" } ], "related": [ { "slug": "aars1", "symbol": "AARS1", "name": "alanyl-tRNA synthetase 1", "shared": 1, "url": "https://dantelabs.com/genes/aars1" }, { "slug": "abat", "symbol": "ABAT", "name": "4-aminobutyrate aminotransferase", "shared": 1, "url": "https://dantelabs.com/genes/abat" }, { "slug": "actl6b", "symbol": "ACTL6B", "name": "actin like 6B", "shared": 1, "url": "https://dantelabs.com/genes/actl6b" }, { "slug": "adam22", "symbol": "ADAM22", "name": "ADAM metallopeptidase domain 22", "shared": 1, "url": "https://dantelabs.com/genes/adam22" }, { "slug": "aldh7a1", "symbol": "ALDH7A1", "name": "aldehyde dehydrogenase 7 family member A1", "shared": 1, "url": "https://dantelabs.com/genes/aldh7a1" }, { "slug": "alg13", "symbol": "ALG13", "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit", "shared": 1, "url": "https://dantelabs.com/genes/alg13" }, { "slug": "ap3b2", "symbol": "AP3B2", "name": "adaptor related protein complex 3 subunit beta 2", "shared": 1, "url": "https://dantelabs.com/genes/ap3b2" }, { "slug": "arhgef9", "symbol": "ARHGEF9", "name": "Cdc42 guanine nucleotide exchange factor 9", "shared": 1, "url": "https://dantelabs.com/genes/arhgef9" }, { "slug": "arv1", "symbol": "ARV1", "name": "ARV1 fatty acid homeostasis modulator", "shared": 1, "url": "https://dantelabs.com/genes/arv1" }, { "slug": "arx", "symbol": "ARX", "name": "aristaless related homeobox", "shared": 1, "url": "https://dantelabs.com/genes/arx" }, { "slug": "atp1a2", "symbol": "ATP1A2", "name": "ATPase Na+/K+ transporting subunit alpha 2", "shared": 1, "url": "https://dantelabs.com/genes/atp1a2" }, { "slug": "atp1a3", "symbol": "ATP1A3", "name": "ATPase Na+/K+ transporting subunit alpha 3", "shared": 1, "url": "https://dantelabs.com/genes/atp1a3" } ], "sources": { "bundleId": "2026.10.19-9814e911", "panel": "2026-10-19", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }