{
  "url": "https://dantelabs.com/pl/genes/vps4a",
  "gene": {
    "slug": "vps4a",
    "symbol": "VPS4A",
    "name": "vacuolar protein sorting 4 homolog A",
    "hgnc": "HGNC:13488",
    "summary": null,
    "location": "16q23.1",
    "locusType": "gene with protein product",
    "aliases": [
      "VPS4",
      "VPS4-1",
      "FLJ22197",
      "SKD2",
      "SKD1",
      "SKD1A"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000132612",
    "entrezId": 27183,
    "omim": [
      "609982"
    ],
    "uniprot": [
      "Q9UN37"
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    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "16",
      "start": 69311350,
      "end": 69326939,
      "strand": "+",
      "ensemblTranscript": "ENST00000254950.13",
      "refseqTranscript": "NM_013245.3",
      "ensemblProtein": "ENSP00000254950.11",
      "refseqProtein": "NP_037377.1",
      "exons": [
        {
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        },
        {
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          "end": 69316119
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        },
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        }
      ],
      "cds": {
        "start": 69311512,
        "end": 69324309
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "16",
      "start": 69345259,
      "end": 69358949,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 68819145,
      "end": 69819144,
      "genes": [
        {
          "symbol": "CDH1",
          "ensemblId": "ENSG00000039068",
          "biotype": "protein_coding",
          "start": 68737242,
          "end": 68835543,
          "strand": "+",
          "slug": "cdh1"
        },
        {
          "symbol": "TANGO6",
          "ensemblId": "ENSG00000103047",
          "biotype": "protein_coding",
          "start": 68843517,
          "end": 69086516,
          "strand": "+",
          "slug": "tango6"
        },
        {
          "symbol": "HAS3",
          "ensemblId": "ENSG00000103044",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "has3"
        },
        {
          "symbol": "DERPC",
          "ensemblId": "ENSG00000286140",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "derpc"
        },
        {
          "symbol": "CHTF8",
          "ensemblId": "ENSG00000168802",
          "biotype": "protein_coding",
          "start": 69118009,
          "end": 69132849,
          "strand": "-",
          "slug": "chtf8"
        },
        {
          "symbol": "UTP4",
          "ensemblId": "ENSG00000141076",
          "biotype": "protein_coding",
          "start": 69131291,
          "end": 69231130,
          "strand": "+",
          "slug": "utp4"
        },
        {
          "symbol": "SNTB2",
          "ensemblId": "ENSG00000168807",
          "biotype": "protein_coding",
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          "end": 69309052,
          "strand": "+",
          "slug": "sntb2"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000260914",
          "biotype": "protein_coding",
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          "strand": "+"
        },
        {
          "symbol": "COG8",
          "ensemblId": "ENSG00000213380",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "cog8"
        },
        {
          "symbol": "PDF",
          "ensemblId": "ENSG00000258429",
          "biotype": "protein_coding",
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        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000272617",
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        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000260371",
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        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000259900",
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        },
        {
          "symbol": "NIP7",
          "ensemblId": "ENSG00000132603",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "nip7"
        },
        {
          "symbol": "TMED6",
          "ensemblId": "ENSG00000157315",
          "biotype": "protein_coding",
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          "end": 69351811,
          "strand": "-",
          "slug": "tmed6"
        },
        {
          "symbol": "TERF2",
          "ensemblId": "ENSG00000132604",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "terf2"
        },
        {
          "symbol": "CYB5B",
          "ensemblId": "ENSG00000103018",
          "biotype": "protein_coding",
          "start": 69398402,
          "end": 69480778,
          "strand": "+",
          "slug": "cyb5b"
        },
        {
          "symbol": "NFAT5",
          "ensemblId": "ENSG00000102908",
          "biotype": "protein_coding",
          "start": 69565094,
          "end": 69704666,
          "strand": "+",
          "slug": "nfat5"
        },
        {
          "symbol": "NQO1",
          "ensemblId": "ENSG00000181019",
          "biotype": "protein_coding",
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          "end": 69726668,
          "strand": "-",
          "slug": "nqo1"
        },
        {
          "symbol": "NOB1",
          "ensemblId": "ENSG00000141101",
          "biotype": "protein_coding",
          "start": 69741871,
          "end": 69754943,
          "strand": "-",
          "slug": "nob1"
        },
        {
          "symbol": "WWP2",
          "ensemblId": "ENSG00000198373",
          "biotype": "protein_coding",
          "start": 69762281,
          "end": 69944553,
          "strand": "+",
          "slug": "wwp2"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "absent-speech",
        "name": "Absent speech development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absent-speech"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "retinal-dystrophy",
        "name": "Breakdown of light-sensitive cells in back of eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/retinal-dystrophy"
      },
      {
        "slug": "cerebellar-vermis-hypoplasia",
        "name": "Cerebellar vermis hypoplasia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebellar-vermis-hypoplasia"
      },
      {
        "slug": "chorea",
        "name": "Chorea",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chorea"
      },
      {
        "slug": "developmental-cataract",
        "name": "Clouding of the lens of the eye at birth",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/developmental-cataract"
      },
      {
        "slug": "hypogonadism",
        "name": "Decreased activity of gonads",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypogonadism"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "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": "sleep-disturbance",
        "name": "Difficulty sleeping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sleep-disturbance"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "cholelithiasis",
        "name": "Gallstones",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cholelithiasis"
      },
      {
        "slug": "lipodystrophy",
        "name": "Inability to make and keep healthy fat tissue",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lipodystrophy"
      },
      {
        "slug": "severe-intellectual-disability",
        "name": "Intellectual disability, severe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severe-intellectual-disability"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "microvesicular-hepatic-steatosis",
        "name": "Microvesicular hepatic steatosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microvesicular-hepatic-steatosis"
      },
      {
        "slug": "polymicrogyria",
        "name": "More grooves in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/polymicrogyria"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "pontocerebellar-atrophy",
        "name": "Pontocerebellar atrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pontocerebellar-atrophy"
      },
      {
        "slug": "recurrent-infections",
        "name": "Recurrent infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-infections"
      },
      {
        "slug": "scleral-staphyloma",
        "name": "Scleral staphyloma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scleral-staphyloma"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "severe-global-developmental-delay",
        "name": "Severe global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severe-global-developmental-delay"
      },
      {
        "slug": "cerebellar-hypoplasia",
        "name": "Small cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebellar-hypoplasia"
      },
      {
        "slug": "primary-microcephaly",
        "name": "Small head present at birth",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/primary-microcephaly"
      },
      {
        "slug": "thin-corpus-callosum",
        "name": "Thin corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thin-corpus-callosum"
      },
      {
        "slug": "visual-fixation-instability",
        "name": "Visual fixation instability",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/visual-fixation-instability"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/visual-impairment"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}