{
  "url": "https://dantelabs.com/el/genes/nfasc",
  "gene": {
    "slug": "nfasc",
    "symbol": "NFASC",
    "name": "neurofascin",
    "hgnc": "HGNC:29866",
    "summary": null,
    "location": "1q32.1",
    "locusType": "gene with protein product",
    "aliases": [
      "NRCAML",
      "KIAA0756",
      "FLJ46866",
      "NF"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000163531",
    "entrezId": 23114,
    "omim": [
      "609145"
    ],
    "uniprot": [
      "O94856"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 204828652,
      "end": 205022822,
      "strand": "+",
      "ensemblTranscript": "ENST00000339876.11",
      "refseqTranscript": "NM_001005388.3",
      "ensemblProtein": "ENSP00000344786.6",
      "refseqProtein": "NP_001005388.2",
      "exons": [
        {
          "start": 204828652,
          "end": 204828782
        },
        {
          "start": 204920632,
          "end": 204920740
        },
        {
          "start": 204944226,
          "end": 204944406
        },
        {
          "start": 204950557,
          "end": 204950574
        },
        {
          "start": 204952011,
          "end": 204952116
        },
        {
          "start": 204954188,
          "end": 204954384
        },
        {
          "start": 204954829,
          "end": 204954951
        },
        {
          "start": 204957656,
          "end": 204957826
        },
        {
          "start": 204968249,
          "end": 204968360
        },
        {
          "start": 204968798,
          "end": 204968982
        },
        {
          "start": 204970616,
          "end": 204970747
        },
        {
          "start": 204973276,
          "end": 204973419
        },
        {
          "start": 204974179,
          "end": 204974290
        },
        {
          "start": 204974657,
          "end": 204974823
        },
        {
          "start": 204975271,
          "end": 204975418
        },
        {
          "start": 204976671,
          "end": 204976795
        },
        {
          "start": 204977681,
          "end": 204977725
        },
        {
          "start": 204978968,
          "end": 204979069
        },
        {
          "start": 204979362,
          "end": 204979559
        },
        {
          "start": 204980370,
          "end": 204980440
        },
        {
          "start": 204981798,
          "end": 204982020
        },
        {
          "start": 204987418,
          "end": 204987540
        },
        {
          "start": 204988633,
          "end": 204988806
        },
        {
          "start": 204991292,
          "end": 204991306
        },
        {
          "start": 204997170,
          "end": 204997406
        },
        {
          "start": 205001170,
          "end": 205001286
        },
        {
          "start": 205002596,
          "end": 205002748
        },
        {
          "start": 205009557,
          "end": 205009688
        },
        {
          "start": 205012797,
          "end": 205012866
        },
        {
          "start": 205016308,
          "end": 205022822
        }
      ],
      "cds": {
        "start": 204944316,
        "end": 205016539
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 204797779,
      "end": 204991950,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 204425737,
      "end": 205425736,
      "genes": [
        {
          "symbol": "PIK3C2B",
          "ensemblId": "ENSG00000133056",
          "biotype": "protein_coding",
          "start": 204421803,
          "end": 204494858,
          "strand": "-",
          "slug": "pik3c2b"
        },
        {
          "symbol": "MDM4",
          "ensemblId": "ENSG00000198625",
          "biotype": "protein_coding",
          "start": 204516369,
          "end": 204558120,
          "strand": "+",
          "slug": "mdm4"
        },
        {
          "symbol": "LRRN2",
          "ensemblId": "ENSG00000170382",
          "biotype": "protein_coding",
          "start": 204617170,
          "end": 204685745,
          "strand": "-",
          "slug": "lrrn2"
        },
        {
          "symbol": "CNTN2",
          "ensemblId": "ENSG00000184144",
          "biotype": "protein_coding",
          "start": 205042937,
          "end": 205078289,
          "strand": "+",
          "slug": "cntn2"
        },
        {
          "symbol": "TMEM81",
          "ensemblId": "ENSG00000174529",
          "biotype": "protein_coding",
          "start": 205083129,
          "end": 205084460,
          "strand": "-",
          "slug": "tmem81"
        },
        {
          "symbol": "RBBP5",
          "ensemblId": "ENSG00000117222",
          "biotype": "protein_coding",
          "start": 205085685,
          "end": 205122263,
          "strand": "-",
          "slug": "rbbp5"
        },
        {
          "symbol": "DSTYK",
          "ensemblId": "ENSG00000133059",
          "biotype": "protein_coding",
          "start": 205142505,
          "end": 205211741,
          "strand": "-",
          "slug": "dstyk"
        },
        {
          "symbol": "TMCC2",
          "ensemblId": "ENSG00000133069",
          "biotype": "protein_coding",
          "start": 205227912,
          "end": 205285632,
          "strand": "+",
          "slug": "tmcc2"
        },
        {
          "symbol": "NUAK2",
          "ensemblId": "ENSG00000163545",
          "biotype": "protein_coding",
          "start": 205302059,
          "end": 205321781,
          "strand": "-",
          "slug": "nuak2"
        },
        {
          "symbol": "KLHDC8A",
          "ensemblId": "ENSG00000162873",
          "biotype": "protein_coding",
          "start": 205333749,
          "end": 205357324,
          "strand": "-",
          "slug": "klhdc8a"
        },
        {
          "symbol": "LEMD1",
          "ensemblId": "ENSG00000186007",
          "biotype": "protein_coding",
          "start": 205381376,
          "end": 205456415,
          "strand": "-",
          "slug": "lemd1"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "11-pairs-of-ribs",
        "name": "11 pairs of ribs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/11-pairs-of-ribs"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "aggressive-behavior",
        "name": "Aggressive behavior",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/aggressive-behavior"
      },
      {
        "slug": "anxiety",
        "name": "Anxiety",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/anxiety"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "congenital-laryngeal-stridor",
        "name": "Congenital laryngeal stridor",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/congenital-laryngeal-stridor"
      },
      {
        "slug": "decreased-nerve-conduction-velocity",
        "name": "Decreased nerve conduction velocity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-nerve-conduction-velocity"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "delayed-ability-to-walk",
        "name": "Delayed ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/delayed-ability-to-walk"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "dysdiadochokinesis",
        "name": "Difficulty performing quick and alternating movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dysdiadochokinesis"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "hyperextensibility-of-the-finger-joints",
        "name": "Finger joint hyperextensibility",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperextensibility-of-the-finger-joints"
      },
      {
        "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": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "intention-tremor",
        "name": "Intention tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/intention-tremor"
      },
      {
        "slug": "myoclonus",
        "name": "Jerking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/myoclonus"
      },
      {
        "slug": "dysmetria",
        "name": "Lack of coordination of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dysmetria"
      },
      {
        "slug": "decreased-fetal-movement",
        "name": "Less than 10 fetal movements in 12 hours",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/decreased-fetal-movement"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "neonatal-respiratory-distress",
        "name": "Neonatal respiratory distress",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/neonatal-respiratory-distress"
      },
      {
        "slug": "prominent-nasal-bridge",
        "name": "Prominent nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/prominent-nasal-bridge"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "glossoptosis",
        "name": "Retraction of the tongue",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/glossoptosis"
      },
      {
        "slug": "small-anterior-fontanelle",
        "name": "Small anterior fontanelle",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/small-anterior-fontanelle"
      },
      {
        "slug": "hypertonia",
        "name": "Spasticity and rigidity of muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertonia"
      },
      {
        "slug": "wide-nasal-bridge",
        "name": "Wide nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/wide-nasal-bridge"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}