{
  "url": "https://dantelabs.com/sv/genes/ascl1",
  "gene": {
    "slug": "ascl1",
    "symbol": "ASCL1",
    "name": "achaete-scute family bHLH transcription factor 1",
    "hgnc": "HGNC:738",
    "summary": null,
    "location": "12q23.2",
    "locusType": "gene with protein product",
    "aliases": [
      "ASH1",
      "HASH1",
      "bHLHa46"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000139352",
    "entrezId": 429,
    "omim": [
      "100790"
    ],
    "uniprot": [
      "P50553"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "12",
      "start": 102957674,
      "end": 102960513,
      "strand": "+",
      "ensemblTranscript": "ENST00000266744.4",
      "refseqTranscript": "NM_004316.4",
      "ensemblProtein": "ENSP00000266744.3",
      "refseqProtein": "NP_004307.2",
      "exons": [
        {
          "start": 102957674,
          "end": 102959002
        },
        {
          "start": 102959362,
          "end": 102960513
        }
      ],
      "cds": {
        "start": 102958245,
        "end": 102958955
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "12",
      "start": 103351464,
      "end": 103354294,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 102459094,
      "end": 103459093,
      "genes": [
        {
          "symbol": "IGF1",
          "ensemblId": "ENSG00000017427",
          "biotype": "protein_coding",
          "start": 102395874,
          "end": 102481857,
          "strand": "-",
          "slug": "igf1"
        },
        {
          "symbol": "PAH",
          "ensemblId": "ENSG00000171759",
          "biotype": "protein_coding",
          "start": 102836889,
          "end": 102958410,
          "strand": "-",
          "slug": "pah"
        },
        {
          "symbol": "C12orf42",
          "ensemblId": "ENSG00000179088",
          "biotype": "protein_coding",
          "start": 103237591,
          "end": 103501754,
          "strand": "-",
          "slug": "c12orf42"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-autonomic-nervous-system-physiology",
        "name": "Abnormal autonomic nervous system physiology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-autonomic-nervous-system-physiology"
      },
      {
        "slug": "gastroesophageal-reflux",
        "name": "Acid reflux",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gastroesophageal-reflux"
      },
      {
        "slug": "breathing-dysregulation",
        "name": "Breathing dysregulation",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/breathing-dysregulation"
      },
      {
        "slug": "neuroblastoma",
        "name": "Cancer of early nerve cells",
        "systems": [
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neuroblastoma"
      },
      {
        "slug": "central-hypoventilation",
        "name": "Central hypoventilation",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/central-hypoventilation"
      },
      {
        "slug": "central-sleep-apnea",
        "name": "Central sleep apnea",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/central-sleep-apnea"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "aganglionic-megacolon",
        "name": "Enlarged colon lacking nerve cells",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aganglionic-megacolon"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "ganglioneuroma",
        "name": "Ganglioneuroma",
        "systems": [
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ganglioneuroma"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "decreased-fetal-movement",
        "name": "Less than 10 fetal movements in 12 hours",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-fetal-movement"
      },
      {
        "slug": "oligohydramnios",
        "name": "Low levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/oligohydramnios"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "small-for-gestational-age",
        "name": "Small for gestational age",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/small-for-gestational-age"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}