{ "url": "https://dantelabs.com/genes/vps16", "gene": { "slug": "vps16", "symbol": "VPS16", "name": "VPS16 core subunit of CORVET and HOPS complexes", "hgnc": "HGNC:14584", "summary": null, "location": "20p13", "locusType": "gene with protein product", "aliases": [], "previousSymbols": [], "ensemblId": "ENSG00000215305", "entrezId": 64601, "omim": [ "608550" ], "uniprot": [ "Q9H269" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "20", "start": 2840745, "end": 2866732, "strand": "+", "ensemblTranscript": "ENST00000380445.8", "refseqTranscript": "NM_022575.4", "ensemblProtein": "ENSP00000369810.3", "refseqProtein": "NP_072097.2", "exons": [ { "start": 2840745, "end": 2840827 }, { "start": 2859719, "end": 2859807 }, { "start": 2860054, "end": 2860151 }, { "start": 2860239, "end": 2860367 }, { "start": 2860449, "end": 2860593 }, { "start": 2860748, "end": 2860863 }, { "start": 2860970, "end": 2861092 }, { "start": 2861225, "end": 2861280 }, { "start": 2861615, "end": 2861704 }, { "start": 2861805, "end": 2861899 }, { "start": 2862054, "end": 2862130 }, { "start": 2862579, "end": 2862710 }, { "start": 2862807, "end": 2862934 }, { "start": 2863065, "end": 2863100 }, { "start": 2863290, "end": 2863398 }, { "start": 2863949, "end": 2864083 }, { "start": 2864179, "end": 2864287 }, { "start": 2864365, "end": 2864462 }, { "start": 2864547, "end": 2864654 }, { "start": 2864978, "end": 2865055 }, { "start": 2865148, "end": 2865317 }, { "start": 2865399, "end": 2865495 }, { "start": 2866212, "end": 2866315 }, { "start": 2866430, "end": 2866732 } ], "cds": { "start": 2840775, "end": 2866574 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "20", "start": 2821349, "end": 2847378, "strand": "+" }, "neighbourhood": { "release": "116", "start": 2353739, "end": 3353738, "genes": [ { "symbol": "TGM6", "ensemblId": "ENSG00000166948", "biotype": "protein_coding", "start": 2380901, "end": 2432753, "strand": "+", "slug": "tgm6" }, { "symbol": "SNRPB", "ensemblId": "ENSG00000125835", "biotype": "protein_coding", "start": 2461634, "end": 2470884, "strand": "-", "slug": "snrpb" }, { "symbol": "", "ensemblId": "ENSG00000256566", "biotype": "protein_coding", "start": 2467212, "end": 2508907, "strand": "-" }, { "symbol": "ZNF343", "ensemblId": "ENSG00000088876", "biotype": "protein_coding", "start": 2471467, "end": 2525028, "strand": "-", "slug": "znf343" }, { "symbol": "TMC2", "ensemblId": "ENSG00000149488", "biotype": "protein_coding", "start": 2536573, "end": 2643580, "strand": "+", "slug": "tmc2" }, { "symbol": "NOP56", "ensemblId": "ENSG00000101361", "biotype": "protein_coding", "start": 2652460, "end": 2658396, "strand": "+", "slug": "nop56" }, { "symbol": "IDH3B", "ensemblId": "ENSG00000101365", "biotype": "protein_coding", "start": 2658393, "end": 2664219, "strand": "-", "slug": "idh3b" }, { "symbol": "EBF4", "ensemblId": "ENSG00000088881", "biotype": "protein_coding", "start": 2692724, "end": 2760228, "strand": "+", "slug": "ebf4" }, { "symbol": "CPXM1", "ensemblId": "ENSG00000088882", "biotype": "protein_coding", "start": 2794069, "end": 2800835, "strand": "-", "slug": "cpxm1" }, { "symbol": "", "ensemblId": "ENSG00000241690", "biotype": "protein_coding", "start": 2814968, "end": 2818066, "strand": "+" }, { "symbol": "C20orf141", "ensemblId": "ENSG00000258713", "biotype": "protein_coding", "start": 2814987, "end": 2815833, "strand": "+", "slug": "c20orf141" }, { "symbol": "TMEM239", "ensemblId": "ENSG00000198326", "biotype": "protein_coding", "start": 2816302, "end": 2820284, "strand": "+", "slug": "tmem239" }, { "symbol": "PCED1A", "ensemblId": "ENSG00000132635", "biotype": "protein_coding", "start": 2835070, "end": 2841190, "strand": "-", "slug": "pced1a" }, { "symbol": "PTPRA", "ensemblId": "ENSG00000132670", "biotype": "protein_coding", "start": 2870754, "end": 3039247, "strand": "+", "slug": "ptpra" }, { "symbol": "GNRH2", "ensemblId": "ENSG00000125787", "biotype": "protein_coding", "start": 3042814, "end": 3045747, "strand": "+", "slug": "gnrh2" }, { "symbol": "MRPS26", "ensemblId": "ENSG00000125901", "biotype": "protein_coding", "start": 3046016, "end": 3048254, "strand": "+", "slug": "mrps26" }, { "symbol": "OXT", "ensemblId": "ENSG00000101405", "biotype": "protein_coding", "start": 3071476, "end": 3072517, "strand": "+", "slug": "oxt" }, { "symbol": "AVP", "ensemblId": "ENSG00000101200", "biotype": "protein_coding", "start": 3082556, "end": 3084724, "strand": "-", "slug": "avp" }, { "symbol": "UBOX5", "ensemblId": "ENSG00000185019", "biotype": "protein_coding", "start": 3107573, "end": 3160196, "strand": "-", "slug": "ubox5" }, { "symbol": "FASTKD5", "ensemblId": "ENSG00000215251", "biotype": "protein_coding", "start": 3146519, "end": 3160196, "strand": "-", "slug": "fastkd5" }, { "symbol": "LZTS3", "ensemblId": "ENSG00000088899", "biotype": "protein_coding", "start": 3162617, "end": 3174504, "strand": "-", "slug": "lzts3" }, { "symbol": "DDRGK1", "ensemblId": "ENSG00000198171", "biotype": "protein_coding", "start": 3188734, "end": 3204700, "strand": "-", "slug": "ddrgk1" }, { "symbol": "ITPA", "ensemblId": "ENSG00000125877", "biotype": "protein_coding", "start": 3208868, "end": 3227446, "strand": "+", "slug": "itpa" }, { "symbol": "SLC4A11", "ensemblId": "ENSG00000088836", "biotype": "protein_coding", "start": 3227417, "end": 3239580, "strand": "-", "slug": "slc4a11" }, { "symbol": "DNAAF9", "ensemblId": "ENSG00000088854", "biotype": "protein_coding", "start": 3249295, "end": 3407942, "strand": "-", "slug": "dnaaf9" } ], "truncated": false }, "reports": [ { "slug": "dystonia-myotonia-paroxysmal-dyskinesia", "name": "Dystonia, Myotonia, Paroxysmal Dyskinesia", "diseases": [ { "mondoId": "MONDO:0025691", "name": "Dystonia 30", "genes": 1, "inheritance": "autosomal-dominant", "description": null, "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0044807", "name": "Inherited Dystonia", "genes": 34, "inheritance": null, "description": "Umbrella term covering inherited dystonias, including DYT-TOR1A early-onset generalized dystonia, DYT-THAP1, myoclonus-dystonia (SGCE) and KMT2B-related dystonia.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/conditions/dystonia-myotonia-paroxysmal-dyskinesia" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "aggressive-behavior", "name": "Aggressive behavior", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aggressive-behavior" }, { "slug": "arm-dystonia", "name": "Arm dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/arm-dystonia" }, { "slug": "bipolar-affective-disorder", "name": "Bipolar disorder", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bipolar-affective-disorder" }, { "slug": "diffuse-cerebral-atrophy", "name": "Diffuse cerebral atrophy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/diffuse-cerebral-atrophy" }, { "slug": "dystonia", "name": "Dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dystonia" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "globus-pallidus-hypointensity-on-susceptibility-weighted-imaging", "name": "Globus pallidus hypointensity on susceptibility-weighted imaging", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/globus-pallidus-hypointensity-on-susceptibility-weighted-imaging" }, { "slug": "hypothalamic-hamartoma", "name": "Hypothalamic hamartoma", "systems": [ "abnormality-of-the-nervous-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypothalamic-hamartoma" }, { "slug": "impulsivity", "name": "Impulsivity", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/impulsivity" }, { "slug": "mild-intellectual-disability", "name": "Intellectual disability, mild", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/mild-intellectual-disability" }, { "slug": "moderate-intellectual-disability", "name": "IQ between 34 and 49", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/moderate-intellectual-disability" }, { "slug": "leg-dystonia", "name": "Leg dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/leg-dystonia" }, { "slug": "loss-of-ambulation", "name": "Loss of ability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/loss-of-ambulation" }, { "slug": "compulsive-behaviors", "name": "Obsessive compulsive behavior", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/compulsive-behaviors" }, { "slug": "oromandibular-dystonia", "name": "Oromandibular dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/oromandibular-dystonia" }, { "slug": "writer-s-cramp", "name": "Writer's cramp", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/writer-s-cramp" }, { "slug": "torticollis", "name": "Wry neck", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/torticollis" } ], "related": [ { "slug": "actb", "symbol": "ACTB", "name": "actin beta", "shared": 1, "url": "https://dantelabs.com/genes/actb" }, { "slug": "ano3", "symbol": "ANO3", "name": "anoctamin 3", "shared": 1, "url": "https://dantelabs.com/genes/ano3" }, { "slug": "arfgef3", "symbol": "ARFGEF3", "name": "ARFGEF family member 3", "shared": 1, "url": "https://dantelabs.com/genes/arfgef3" }, { "slug": "atp1a3", "symbol": "ATP1A3", "name": "ATPase Na+/K+ transporting subunit alpha 3", "shared": 1, "url": "https://dantelabs.com/genes/atp1a3" }, { "slug": "bcap31", "symbol": "BCAP31", "name": "B cell receptor associated protein 31", "shared": 1, "url": "https://dantelabs.com/genes/bcap31" }, { "slug": "col6a3", "symbol": "COL6A3", "name": "collagen type VI alpha 3 chain", "shared": 1, "url": "https://dantelabs.com/genes/col6a3" }, { "slug": "dcaf17", "symbol": "DCAF17", "name": "DDB1 and CUL4 associated factor 17", "shared": 1, "url": "https://dantelabs.com/genes/dcaf17" }, { "slug": "gch1", "symbol": "GCH1", "name": "GTP cyclohydrolase 1", "shared": 1, "url": "https://dantelabs.com/genes/gch1" }, { "slug": "gnal", "symbol": "GNAL", "name": "G protein subunit alpha L", "shared": 1, "url": "https://dantelabs.com/genes/gnal" }, { "slug": "hpca", "symbol": "HPCA", "name": "hippocalcin", "shared": 1, "url": "https://dantelabs.com/genes/hpca" }, { "slug": "kcnj10", "symbol": "KCNJ10", "name": "potassium inwardly rectifying channel subfamily J member 10", "shared": 1, "url": "https://dantelabs.com/genes/kcnj10" }, { "slug": "kctd17", "symbol": "KCTD17", "name": "potassium channel tetramerization domain containing 17", "shared": 1, "url": "https://dantelabs.com/genes/kctd17" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }