{
  "url": "https://dantelabs.com/da/genes/ddx11",
  "gene": {
    "slug": "ddx11",
    "symbol": "DDX11",
    "name": "DEAD/H-box helicase 11",
    "hgnc": "HGNC:2736",
    "summary": null,
    "location": "12p11.21",
    "locusType": "gene with protein product",
    "aliases": [
      "ChlR1",
      "KRG-2",
      "CHL1",
      "WABS"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000013573",
    "entrezId": 1663,
    "omim": [
      "601150"
    ],
    "uniprot": [
      "Q96FC9"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "12",
      "start": 31073860,
      "end": 31104799,
      "strand": "+",
      "ensemblTranscript": "ENST00000542838.6",
      "refseqTranscript": "NM_030653.4",
      "ensemblProtein": "ENSP00000443426.1",
      "refseqProtein": "NP_085911.2",
      "exons": [
        {
          "start": 31073860,
          "end": 31074091
        },
        {
          "start": 31078390,
          "end": 31078537
        },
        {
          "start": 31083813,
          "end": 31084061
        },
        {
          "start": 31084583,
          "end": 31084669
        },
        {
          "start": 31084969,
          "end": 31085126
        },
        {
          "start": 31087938,
          "end": 31087983
        },
        {
          "start": 31089044,
          "end": 31089151
        },
        {
          "start": 31089403,
          "end": 31089490
        },
        {
          "start": 31089886,
          "end": 31090094
        },
        {
          "start": 31091719,
          "end": 31091871
        },
        {
          "start": 31092846,
          "end": 31092892
        },
        {
          "start": 31093245,
          "end": 31093324
        },
        {
          "start": 31094590,
          "end": 31094634
        },
        {
          "start": 31094755,
          "end": 31094822
        },
        {
          "start": 31096341,
          "end": 31096379
        },
        {
          "start": 31096637,
          "end": 31096745
        },
        {
          "start": 31096859,
          "end": 31096990
        },
        {
          "start": 31097885,
          "end": 31097997
        },
        {
          "start": 31100635,
          "end": 31100707
        },
        {
          "start": 31101027,
          "end": 31101130
        },
        {
          "start": 31101833,
          "end": 31101982
        },
        {
          "start": 31102243,
          "end": 31102311
        },
        {
          "start": 31102427,
          "end": 31102527
        },
        {
          "start": 31102936,
          "end": 31103020
        },
        {
          "start": 31103317,
          "end": 31103395
        },
        {
          "start": 31103577,
          "end": 31103731
        },
        {
          "start": 31103807,
          "end": 31104799
        }
      ],
      "cds": {
        "start": 31078394,
        "end": 31103836
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "12",
      "start": 31226779,
      "end": 31257725,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 30589330,
      "end": 31589329,
      "genes": [
        {
          "symbol": "IPO8",
          "ensemblId": "ENSG00000133704",
          "biotype": "protein_coding",
          "start": 30628981,
          "end": 30695908,
          "strand": "-",
          "slug": "ipo8"
        },
        {
          "symbol": "CAPRIN2",
          "ensemblId": "ENSG00000110888",
          "biotype": "protein_coding",
          "start": 30709508,
          "end": 30823302,
          "strand": "-",
          "slug": "caprin2"
        },
        {
          "symbol": "TSPAN11",
          "ensemblId": "ENSG00000110900",
          "biotype": "protein_coding",
          "start": 30926428,
          "end": 30996602,
          "strand": "+",
          "slug": "tspan11"
        },
        {
          "symbol": "SINHCAF",
          "ensemblId": "ENSG00000139146",
          "biotype": "protein_coding",
          "start": 31280423,
          "end": 31327058,
          "strand": "-",
          "slug": "sinhcaf"
        },
        {
          "symbol": "DENND5B",
          "ensemblId": "ENSG00000170456",
          "biotype": "protein_coding",
          "start": 31377500,
          "end": 31591201,
          "strand": "-",
          "slug": "dennd5b"
        }
      ],
      "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": "cupped-ear",
        "name": "Cupped ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cupped-ear"
      },
      {
        "slug": "clinodactyly-of-the-5th-finger",
        "name": "Curvature of little finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/clinodactyly-of-the-5th-finger"
      },
      {
        "slug": "cutis-marmorata",
        "name": "Cutis marmorata",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cutis-marmorata"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "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": "postnatal-growth-retardation",
        "name": "Growth delay as children",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/postnatal-growth-retardation"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "ventricular-septal-defect",
        "name": "Hole in heart wall separating two lower heart chambers",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ventricular-septal-defect"
      },
      {
        "slug": "hypermelanotic-macule",
        "name": "Hyperpigmented skin patches",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypermelanotic-macule"
      },
      {
        "slug": "hypoplasia-of-the-cochlea",
        "name": "Hypoplasia of the cochlea",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-cochlea"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "narrow-forehead",
        "name": "Narrow forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/narrow-forehead"
      },
      {
        "slug": "optic-disc-coloboma",
        "name": "Optic disc coloboma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/optic-disc-coloboma"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "single-transverse-palmar-crease",
        "name": "Single transverse palmar crease",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/single-transverse-palmar-crease"
      },
      {
        "slug": "sloping-forehead",
        "name": "Sloping forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sloping-forehead"
      },
      {
        "slug": "small-face",
        "name": "Small face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/small-face"
      },
      {
        "slug": "tetralogy-of-fallot",
        "name": "Tetralogy of Fallot",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tetralogy-of-fallot"
      },
      {
        "slug": "2-3-toe-syndactyly",
        "name": "Webbed 2nd and 3rd toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/2-3-toe-syndactyly"
      },
      {
        "slug": "wide-mouth",
        "name": "Wide mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/wide-mouth"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}