{
  "url": "https://dantelabs.com/ro/genes/dync1i2",
  "gene": {
    "slug": "dync1i2",
    "symbol": "DYNC1I2",
    "name": "dynein cytoplasmic 1 intermediate chain 2",
    "hgnc": "HGNC:2964",
    "summary": null,
    "location": "2q31.1",
    "locusType": "gene with protein product",
    "aliases": [
      "DIC74"
    ],
    "previousSymbols": [
      "DNCI2"
    ],
    "ensemblId": "ENSG00000077380",
    "entrezId": 1781,
    "omim": [
      "603331"
    ],
    "uniprot": [
      "Q13409"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 171687469,
      "end": 171750158,
      "strand": "+",
      "ensemblTranscript": "ENST00000397119.8",
      "refseqTranscript": "NM_001378.3",
      "ensemblProtein": "ENSP00000380308.3",
      "refseqProtein": "NP_001369.1",
      "exons": [
        {
          "start": 171687469,
          "end": 171687627
        },
        {
          "start": 171690147,
          "end": 171690263
        },
        {
          "start": 171692777,
          "end": 171692894
        },
        {
          "start": 171706547,
          "end": 171706564
        },
        {
          "start": 171707287,
          "end": 171707377
        },
        {
          "start": 171712767,
          "end": 171712826
        },
        {
          "start": 171715328,
          "end": 171715443
        },
        {
          "start": 171725618,
          "end": 171725713
        },
        {
          "start": 171725919,
          "end": 171726081
        },
        {
          "start": 171726194,
          "end": 171726293
        },
        {
          "start": 171726791,
          "end": 171726916
        },
        {
          "start": 171727821,
          "end": 171727967
        },
        {
          "start": 171728305,
          "end": 171728418
        },
        {
          "start": 171728717,
          "end": 171728850
        },
        {
          "start": 171729709,
          "end": 171729853
        },
        {
          "start": 171744049,
          "end": 171744189
        },
        {
          "start": 171745802,
          "end": 171745927
        },
        {
          "start": 171747776,
          "end": 171750158
        }
      ],
      "cds": {
        "start": 171690156,
        "end": 171747889
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 172543919,
      "end": 172604930,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 171218814,
      "end": 172218813,
      "genes": [
        {
          "symbol": "TLK1",
          "ensemblId": "ENSG00000198586",
          "biotype": "protein_coding",
          "start": 170990823,
          "end": 171231314,
          "strand": "-",
          "slug": "tlk1"
        },
        {
          "symbol": "METTL8",
          "ensemblId": "ENSG00000123600",
          "biotype": "protein_coding",
          "start": 171315746,
          "end": 171434802,
          "strand": "-",
          "slug": "mettl8"
        },
        {
          "symbol": "DCAF17",
          "ensemblId": "ENSG00000115827",
          "biotype": "protein_coding",
          "start": 171434217,
          "end": 171491318,
          "strand": "+",
          "slug": "dcaf17"
        },
        {
          "symbol": "CYBRD1",
          "ensemblId": "ENSG00000071967",
          "biotype": "protein_coding",
          "start": 171522247,
          "end": 171558133,
          "strand": "+",
          "slug": "cybrd1"
        },
        {
          "symbol": "SLC25A12",
          "ensemblId": "ENSG00000115840",
          "biotype": "protein_coding",
          "start": 171781168,
          "end": 171999859,
          "strand": "-",
          "slug": "slc25a12"
        },
        {
          "symbol": "HAT1",
          "ensemblId": "ENSG00000128708",
          "biotype": "protein_coding",
          "start": 171922404,
          "end": 171986773,
          "strand": "+",
          "slug": "hat1"
        },
        {
          "symbol": "METAP1D",
          "ensemblId": "ENSG00000172878",
          "biotype": "protein_coding",
          "start": 171999935,
          "end": 172083989,
          "strand": "+",
          "slug": "metap1d"
        },
        {
          "symbol": "DLX1",
          "ensemblId": "ENSG00000144355",
          "biotype": "protein_coding",
          "start": 172084469,
          "end": 172089677,
          "strand": "+",
          "slug": "dlx1"
        },
        {
          "symbol": "DLX2",
          "ensemblId": "ENSG00000115844",
          "biotype": "protein_coding",
          "start": 172099438,
          "end": 172102909,
          "strand": "-",
          "slug": "dlx2"
        }
      ],
      "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": "absent-septum-pellucidum",
        "name": "Absent septum pellucidum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absent-septum-pellucidum"
      },
      {
        "slug": "agenesis-of-corpus-callosum",
        "name": "Agenesis of corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum"
      },
      {
        "slug": "aggressive-behavior",
        "name": "Aggressive behavior",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/aggressive-behavior"
      },
      {
        "slug": "attention-deficit-hyperactivity-disorder",
        "name": "Attention deficit",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/attention-deficit-hyperactivity-disorder"
      },
      {
        "slug": "bulbous-nose",
        "name": "Bulbous nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bulbous-nose"
      },
      {
        "slug": "proptosis",
        "name": "Bulging eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/proptosis"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cerebral-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": "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": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "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": "inability-to-walk",
        "name": "Inability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/inability-to-walk"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "severe-intellectual-disability",
        "name": "Intellectual disability, severe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severe-intellectual-disability"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "hypernasal-speech",
        "name": "Nasal speech",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "url": "https://dantelabs.com/traits/hypernasal-speech"
      },
      {
        "slug": "anteverted-nares",
        "name": "Nasal tip, upturned",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/anteverted-nares"
      },
      {
        "slug": "prominent-nose",
        "name": "Prominent nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/prominent-nose"
      },
      {
        "slug": "severe-global-developmental-delay",
        "name": "Severe global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/severe-global-developmental-delay"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "simplified-gyral-pattern",
        "name": "Simplified gyral pattern",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/simplified-gyral-pattern"
      },
      {
        "slug": "sloping-forehead",
        "name": "Sloping forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/sloping-forehead"
      },
      {
        "slug": "hypoplasia-of-the-brainstem",
        "name": "Small brainstem",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-brainstem"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "upslanted-palpebral-fissure",
        "name": "Upward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/upslanted-palpebral-fissure"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}