{
  "url": "https://dantelabs.com/hu/genes/pou3f3",
  "gene": {
    "slug": "pou3f3",
    "symbol": "POU3F3",
    "name": "POU class 3 homeobox 3",
    "hgnc": "HGNC:9216",
    "summary": null,
    "location": "2q12.1",
    "locusType": "gene with protein product",
    "aliases": [
      "BRN1",
      "OTF8"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000198914",
    "entrezId": 5455,
    "omim": [
      "602480"
    ],
    "uniprot": [
      "P20264"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 104854115,
      "end": 104858574,
      "strand": "+",
      "ensemblTranscript": "ENST00000361360.4",
      "refseqTranscript": "NM_006236.3",
      "ensemblProtein": "ENSP00000355001.2",
      "refseqProtein": "NP_006227.1",
      "exons": [
        {
          "start": 104854115,
          "end": 104858574
        }
      ],
      "cds": {
        "start": 104855511,
        "end": 104857013
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 105471969,
      "end": 105476929,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 104356345,
      "end": 105356344,
      "genes": [
        {
          "symbol": "MRPS9",
          "ensemblId": "ENSG00000135972",
          "biotype": "protein_coding",
          "start": 105037968,
          "end": 105099960,
          "strand": "+",
          "slug": "mrps9"
        },
        {
          "symbol": "GPR45",
          "ensemblId": "ENSG00000135973",
          "biotype": "protein_coding",
          "start": 105241743,
          "end": 105243467,
          "strand": "+",
          "slug": "gpr45"
        },
        {
          "symbol": "TGFBRAP1",
          "ensemblId": "ENSG00000135966",
          "biotype": "protein_coding",
          "start": 105264287,
          "end": 105330049,
          "strand": "-",
          "slug": "tgfbrap1"
        },
        {
          "symbol": "TSLIG2",
          "ensemblId": "ENSG00000135974",
          "biotype": "protein_coding",
          "start": 105337516,
          "end": 105360776,
          "strand": "+",
          "slug": "tslig2"
        },
        {
          "symbol": "FHL2",
          "ensemblId": "ENSG00000115641",
          "biotype": "protein_coding",
          "start": 105352159,
          "end": 105438585,
          "strand": "-",
          "slug": "fhl2"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "autistic-behavior",
        "name": "Autism spectrum disorder",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/autistic-behavior"
      },
      {
        "slug": "postural-instability",
        "name": "Balance impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/postural-instability"
      },
      {
        "slug": "choreoathetosis",
        "name": "Choreoathetosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/choreoathetosis"
      },
      {
        "slug": "cupped-ear",
        "name": "Cupped ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cupped-ear"
      },
      {
        "slug": "facial-hypotonia",
        "name": "Decreased facial muscle tone",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/facial-hypotonia"
      },
      {
        "slug": "delayed-cns-myelination",
        "name": "Delayed CNS myelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-cns-myelination"
      },
      {
        "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": "frequent",
        "url": "https://dantelabs.com/traits/sleep-disturbance"
      },
      {
        "slug": "drooling",
        "name": "Drooling",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/drooling"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "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": "hypoplasia-of-the-olfactory-bulb",
        "name": "Hypoplasia of the olfactory bulb",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-olfactory-bulb"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "opisthotonus",
        "name": "Opisthotonus",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/opisthotonus"
      },
      {
        "slug": "protruding-ear",
        "name": "Prominent ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/protruding-ear"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}