{
  "url": "https://dantelabs.com/genes/ctu2",
  "gene": {
    "slug": "ctu2",
    "symbol": "CTU2",
    "name": "cytosolic thiouridylase subunit 2",
    "hgnc": "HGNC:28005",
    "summary": null,
    "location": "16q24.3",
    "locusType": "gene with protein product",
    "aliases": [
      "NCS2"
    ],
    "previousSymbols": [
      "C16orf84"
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    "ensemblId": "ENSG00000174177",
    "entrezId": 348180,
    "omim": [
      "617057"
    ],
    "uniprot": [
      "Q2VPK5"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "16",
      "start": 88706503,
      "end": 88715396,
      "strand": "+",
      "ensemblTranscript": "ENST00000453996.7",
      "refseqTranscript": "NM_001012759.3",
      "ensemblProtein": "ENSP00000388320.2",
      "refseqProtein": "NP_001012777.1",
      "exons": [
        {
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      ],
      "cds": {
        "start": 88706531,
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "16",
      "start": 88772871,
      "end": 88781794,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 88210950,
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      "genes": [
        {
          "symbol": "ZNF469",
          "ensemblId": "ENSG00000225614",
          "biotype": "protein_coding",
          "start": 88382959,
          "end": 88440757,
          "strand": "+",
          "slug": "znf469"
        },
        {
          "symbol": "ZFPM1",
          "ensemblId": "ENSG00000179588",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "zfpm1"
        },
        {
          "symbol": "ZC3H18",
          "ensemblId": "ENSG00000158545",
          "biotype": "protein_coding",
          "start": 88570388,
          "end": 88631966,
          "strand": "+",
          "slug": "zc3h18"
        },
        {
          "symbol": "IL17C",
          "ensemblId": "ENSG00000124391",
          "biotype": "protein_coding",
          "start": 88638571,
          "end": 88640468,
          "strand": "+",
          "slug": "il17c"
        },
        {
          "symbol": "CYBA",
          "ensemblId": "ENSG00000051523",
          "biotype": "protein_coding",
          "start": 88643275,
          "end": 88651083,
          "strand": "-",
          "slug": "cyba"
        },
        {
          "symbol": "MVD",
          "ensemblId": "ENSG00000167508",
          "biotype": "protein_coding",
          "start": 88651934,
          "end": 88663166,
          "strand": "-",
          "slug": "mvd"
        },
        {
          "symbol": "SNAI3",
          "ensemblId": "ENSG00000185669",
          "biotype": "protein_coding",
          "start": 88674992,
          "end": 88686513,
          "strand": "-",
          "slug": "snai3"
        },
        {
          "symbol": "RNF166",
          "ensemblId": "ENSG00000158717",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "rnf166"
        },
        {
          "symbol": "PIEZO1",
          "ensemblId": "ENSG00000103335",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "piezo1"
        },
        {
          "symbol": "CDT1",
          "ensemblId": "ENSG00000167513",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "cdt1"
        },
        {
          "symbol": "APRT",
          "ensemblId": "ENSG00000198931",
          "biotype": "protein_coding",
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          "end": 88811970,
          "strand": "-",
          "slug": "aprt"
        },
        {
          "symbol": "GALNS",
          "ensemblId": "ENSG00000141012",
          "biotype": "protein_coding",
          "start": 88813733,
          "end": 88857832,
          "strand": "-",
          "slug": "galns"
        },
        {
          "symbol": "TRAPPC2L",
          "ensemblId": "ENSG00000167515",
          "biotype": "protein_coding",
          "start": 88856220,
          "end": 88862686,
          "strand": "+",
          "slug": "trappc2l"
        },
        {
          "symbol": "PABPN1L",
          "ensemblId": "ENSG00000205022",
          "biotype": "protein_coding",
          "start": 88863333,
          "end": 88866660,
          "strand": "-",
          "slug": "pabpn1l"
        },
        {
          "symbol": "CBFA2T3",
          "ensemblId": "ENSG00000129993",
          "biotype": "protein_coding",
          "start": 88874858,
          "end": 88977207,
          "strand": "-",
          "slug": "cbfa2t3"
        },
        {
          "symbol": "ACSF3",
          "ensemblId": "ENSG00000176715",
          "biotype": "protein_coding",
          "start": 89088375,
          "end": 89164121,
          "strand": "+",
          "slug": "acsf3"
        },
        {
          "symbol": "CDH15",
          "ensemblId": "ENSG00000129910",
          "biotype": "protein_coding",
          "start": 89171742,
          "end": 89195492,
          "strand": "+",
          "slug": "cdh15"
        },
        {
          "symbol": "SLC22A31",
          "ensemblId": "ENSG00000259803",
          "biotype": "protein_coding",
          "start": 89195458,
          "end": 89201692,
          "strand": "-",
          "slug": "slc22a31"
        }
      ],
      "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": "unilateral-renal-agenesis",
        "name": "Absent kidney on one side",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/unilateral-renal-agenesis"
      },
      {
        "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": "ambiguous-genitalia",
        "name": "Ambiguous external genitalia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ambiguous-genitalia"
      },
      {
        "slug": "atrial-septal-defect",
        "name": "An opening in the wall separating the top two chambers of the heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/atrial-septal-defect"
      },
      {
        "slug": "brachycephaly",
        "name": "Broad head shape",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/brachycephaly"
      },
      {
        "slug": "bilateral-talipes-equinovarus",
        "name": "Club foot on both sides",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bilateral-talipes-equinovarus"
      },
      {
        "slug": "crossed-fused-renal-ectopia",
        "name": "Crossed fused renal ectopia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/crossed-fused-renal-ectopia"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "dimple-chin",
        "name": "Dimple chin",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/dimple-chin"
      },
      {
        "slug": "enlarged-cisterna-magna",
        "name": "Enlarged cisterna magna",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/enlarged-cisterna-magna"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "lissencephaly",
        "name": "Fewer or absent grooves in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lissencephaly"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "highly-arched-eyebrow",
        "name": "Highly arched eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/highly-arched-eyebrow"
      },
      {
        "slug": "ventricular-septal-defect",
        "name": "Hole in heart wall separating two lower heart chambers",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ventricular-septal-defect"
      },
      {
        "slug": "macrotia",
        "name": "Large ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/macrotia"
      },
      {
        "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": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "narrow-forehead",
        "name": "Narrow forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/narrow-forehead"
      },
      {
        "slug": "overlapping-fingers",
        "name": "Overlapping fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/overlapping-fingers"
      },
      {
        "slug": "overlapping-toe",
        "name": "Overlapping toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/overlapping-toe"
      },
      {
        "slug": "patent-ductus-arteriosus",
        "name": "Patent ductus arteriosus",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/patent-ductus-arteriosus"
      },
      {
        "slug": "postaxial-polydactyly",
        "name": "Postaxial polydactyly",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/postaxial-polydactyly"
      },
      {
        "slug": "preaxial-polydactyly",
        "name": "Preaxial polydactyly",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/preaxial-polydactyly"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "retrognathia",
        "name": "Receding chin",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/retrognathia"
      },
      {
        "slug": "micropenis",
        "name": "Short penis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/micropenis"
      },
      {
        "slug": "hypoplastic-right-ventricle",
        "name": "Underdeveloped right heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplastic-right-ventricle"
      },
      {
        "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"
        ],
        "url": "https://dantelabs.com/traits/upslanted-palpebral-fissure"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}