{
  "url": "https://dantelabs.com/genes/sprtn",
  "gene": {
    "slug": "sprtn",
    "symbol": "SPRTN",
    "name": "SprT-like N-terminal domain",
    "hgnc": "HGNC:25356",
    "summary": null,
    "location": "1q42.2",
    "locusType": "gene with protein product",
    "aliases": [
      "DKFZP547N043",
      "Spartan",
      "DVC1"
    ],
    "previousSymbols": [
      "C1orf124"
    ],
    "ensemblId": "ENSG00000010072",
    "entrezId": 83932,
    "omim": [
      "616086"
    ],
    "uniprot": [
      "Q9H040"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 231338293,
      "end": 231355023,
      "strand": "+",
      "ensemblTranscript": "ENST00000295050.12",
      "refseqTranscript": "NM_032018.7",
      "ensemblProtein": "ENSP00000295050.7",
      "refseqProtein": "NP_114407.3",
      "exons": [
        {
          "start": 231338293,
          "end": 231338604
        },
        {
          "start": 231339769,
          "end": 231339868
        },
        {
          "start": 231347797,
          "end": 231347925
        },
        {
          "start": 231351304,
          "end": 231351571
        },
        {
          "start": 231352610,
          "end": 231355023
        }
      ],
      "cds": {
        "start": 231338384,
        "end": 231353361
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 231472850,
      "end": 231490769,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 230846658,
      "end": 231846657,
      "genes": [
        {
          "symbol": "C1orf198",
          "ensemblId": "ENSG00000119280",
          "biotype": "protein_coding",
          "start": 230837119,
          "end": 230869589,
          "strand": "-",
          "slug": "c1orf198"
        },
        {
          "symbol": "TTC13",
          "ensemblId": "ENSG00000143643",
          "biotype": "protein_coding",
          "start": 230902936,
          "end": 230978893,
          "strand": "-",
          "slug": "ttc13"
        },
        {
          "symbol": "ARV1",
          "ensemblId": "ENSG00000173409",
          "biotype": "protein_coding",
          "start": 230978981,
          "end": 231000735,
          "strand": "+",
          "slug": "arv1"
        },
        {
          "symbol": "FAM89A",
          "ensemblId": "ENSG00000182118",
          "biotype": "protein_coding",
          "start": 230999826,
          "end": 231040270,
          "strand": "-",
          "slug": "fam89a"
        },
        {
          "symbol": "TRIM67",
          "ensemblId": "ENSG00000119283",
          "biotype": "protein_coding",
          "start": 231162058,
          "end": 231221565,
          "strand": "+",
          "slug": "trim67"
        },
        {
          "symbol": "FSAF1",
          "ensemblId": "ENSG00000143633",
          "biotype": "protein_coding",
          "start": 231223763,
          "end": 231241187,
          "strand": "-",
          "slug": "fsaf1"
        },
        {
          "symbol": "GNPAT",
          "ensemblId": "ENSG00000116906",
          "biotype": "protein_coding",
          "start": 231241184,
          "end": 231277973,
          "strand": "+",
          "slug": "gnpat"
        },
        {
          "symbol": "EXOC8",
          "ensemblId": "ENSG00000116903",
          "biotype": "protein_coding",
          "start": 231332753,
          "end": 231337852,
          "strand": "-",
          "slug": "exoc8"
        },
        {
          "symbol": "EGLN1",
          "ensemblId": "ENSG00000135766",
          "biotype": "protein_coding",
          "start": 231359560,
          "end": 231422749,
          "strand": "-",
          "slug": "egln1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000287856",
          "biotype": "protein_coding",
          "start": 231363797,
          "end": 231528603,
          "strand": "-"
        },
        {
          "symbol": "TSNAX",
          "ensemblId": "ENSG00000116918",
          "biotype": "protein_coding",
          "start": 231528541,
          "end": 231566524,
          "strand": "+",
          "slug": "tsnax"
        },
        {
          "symbol": "TSNAX-DISC1",
          "ensemblId": "ENSG00000270106",
          "biotype": "protein_coding",
          "start": 231528653,
          "end": 231819244,
          "strand": "+",
          "slug": "tsnax-disc1"
        },
        {
          "symbol": "DISC1",
          "ensemblId": "ENSG00000162946",
          "biotype": "protein_coding",
          "start": 231626663,
          "end": 232041272,
          "strand": "+",
          "slug": "disc1"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "bulbous-nose",
        "name": "Bulbous nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/bulbous-nose"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "clinodactyly",
        "name": "Curvature of digit",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/clinodactyly"
      },
      {
        "slug": "decreased-body-weight",
        "name": "Decreased body weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-body-weight"
      },
      {
        "slug": "delayed-skeletal-maturation",
        "name": "Delayed bone maturation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-skeletal-maturation"
      },
      {
        "slug": "pes-planus",
        "name": "Dropped arches",
        "systems": [
          "abnormality-of-limbs"
        ],
        "url": "https://dantelabs.com/traits/pes-planus"
      },
      {
        "slug": "elbow-flexion-contracture",
        "name": "Elbow flexion contracture",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/elbow-flexion-contracture"
      },
      {
        "slug": "frontal-bossing",
        "name": "Frontal bossing",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/frontal-bossing"
      },
      {
        "slug": "pectus-excavatum",
        "name": "Funnel chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/pectus-excavatum"
      },
      {
        "slug": "hepatocellular-carcinoma",
        "name": "Hepatocellular carcinoma",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatocellular-carcinoma"
      },
      {
        "slug": "lipodystrophy",
        "name": "Inability to make and keep healthy fat tissue",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lipodystrophy"
      },
      {
        "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": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "posterior-subcapsular-cataract",
        "name": "Posterior subcapsular cataract",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/posterior-subcapsular-cataract"
      },
      {
        "slug": "premature-graying-of-hair",
        "name": "Premature graying of hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/premature-graying-of-hair"
      },
      {
        "slug": "prominent-nasal-bridge",
        "name": "Prominent nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/prominent-nasal-bridge"
      },
      {
        "slug": "down-sloping-shoulder",
        "name": "Rounded shoulders",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/down-sloping-shoulder"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "single-transverse-palmar-crease",
        "name": "Single transverse palmar crease",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/single-transverse-palmar-crease"
      },
      {
        "slug": "thoracic-kyphoscoliosis",
        "name": "Thoracic kyphoscoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/thoracic-kyphoscoliosis"
      },
      {
        "slug": "triangular-face",
        "name": "Triangular face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/triangular-face"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}