{
  "url": "https://dantelabs.com/sv/genes/cep55",
  "gene": {
    "slug": "cep55",
    "symbol": "CEP55",
    "name": "centrosomal protein 55",
    "hgnc": "HGNC:1161",
    "summary": null,
    "location": "10q23.33",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ10540",
      "CT111"
    ],
    "previousSymbols": [
      "C10orf3"
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    "ensemblId": "ENSG00000138180",
    "entrezId": 55165,
    "omim": [
      "610000"
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    "uniprot": [
      "Q53EZ4"
    ],
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      "release": "v1.5",
      "chrom": "10",
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      "strand": "+",
      "ensemblTranscript": "ENST00000371485.8",
      "refseqTranscript": "NM_018131.5",
      "ensemblProtein": "ENSP00000360540.3",
      "refseqProtein": "NP_060601.4",
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      ],
      "cds": {
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    },
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      "build": "GRCh37",
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      "end": 95288849,
      "strand": "+"
    },
    "neighbourhood": {
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      "genes": [
        {
          "symbol": "EXOC6",
          "ensemblId": "ENSG00000138190",
          "biotype": "protein_coding",
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          "end": 93059493,
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          "slug": "exoc6"
        },
        {
          "symbol": "CYP26C1",
          "ensemblId": "ENSG00000187553",
          "biotype": "protein_coding",
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          "end": 93069540,
          "strand": "+",
          "slug": "cyp26c1"
        },
        {
          "symbol": "CYP26A1",
          "ensemblId": "ENSG00000095596",
          "biotype": "protein_coding",
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          "strand": "+",
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        },
        {
          "symbol": "MYOF",
          "ensemblId": "ENSG00000138119",
          "biotype": "protein_coding",
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          "strand": "-",
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        {
          "symbol": "FFAR4",
          "ensemblId": "ENSG00000186188",
          "biotype": "protein_coding",
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          "end": 93605840,
          "strand": "+",
          "slug": "ffar4"
        },
        {
          "symbol": "RBP4",
          "ensemblId": "ENSG00000138207",
          "biotype": "protein_coding",
          "start": 93590170,
          "end": 93603110,
          "strand": "-",
          "slug": "rbp4"
        },
        {
          "symbol": "PDE6C",
          "ensemblId": "ENSG00000095464",
          "biotype": "protein_coding",
          "start": 93612533,
          "end": 93666010,
          "strand": "+",
          "slug": "pde6c"
        },
        {
          "symbol": "FRA10AC1",
          "ensemblId": "ENSG00000148690",
          "biotype": "protein_coding",
          "start": 93667126,
          "end": 93703294,
          "strand": "-",
          "slug": "fra10ac1"
        },
        {
          "symbol": "LGI1",
          "ensemblId": "ENSG00000108231",
          "biotype": "protein_coding",
          "start": 93757840,
          "end": 93806272,
          "strand": "+",
          "slug": "lgi1"
        },
        {
          "symbol": "SLC35G1",
          "ensemblId": "ENSG00000176273",
          "biotype": "protein_coding",
          "start": 93893918,
          "end": 93956062,
          "strand": "+",
          "slug": "slc35g1"
        },
        {
          "symbol": "PLCE1",
          "ensemblId": "ENSG00000138193",
          "biotype": "protein_coding",
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          "end": 94332823,
          "strand": "+",
          "slug": "plce1"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "arthrogryposis-multiplex-congenita",
        "name": "Arthrogryposis multiplex congenita",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/arthrogryposis-multiplex-congenita"
      },
      {
        "slug": "bulbous-nose",
        "name": "Bulbous nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/bulbous-nose"
      },
      {
        "slug": "talipes-equinovarus",
        "name": "Club feet",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/talipes-equinovarus"
      },
      {
        "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": "cutaneous-syndactyly",
        "name": "Cutaneous syndactyly",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cutaneous-syndactyly"
      },
      {
        "slug": "cystic-hygroma",
        "name": "Cystic hygroma",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cystic-hygroma"
      },
      {
        "slug": "renal-cyst",
        "name": "Cystic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/renal-cyst"
      },
      {
        "slug": "hydranencephaly",
        "name": "Hydranencephaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hydranencephaly"
      },
      {
        "slug": "oligohydramnios",
        "name": "Low levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/oligohydramnios"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "multinucleated-neuron",
        "name": "Multinucleated neuron",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/multinucleated-neuron"
      },
      {
        "slug": "narrow-palpebral-fissure",
        "name": "Narrow eyelid opening",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/narrow-palpebral-fissure"
      },
      {
        "slug": "narrow-nasal-ridge",
        "name": "Narrow nasal ridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/narrow-nasal-ridge"
      },
      {
        "slug": "choanal-stenosis",
        "name": "Narrowing of the rear opening of the nasal cavity",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/choanal-stenosis"
      },
      {
        "slug": "anteverted-nares",
        "name": "Nasal tip, upturned",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/anteverted-nares"
      },
      {
        "slug": "pulmonary-hypoplasia",
        "name": "Poorly developed lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pulmonary-hypoplasia"
      },
      {
        "slug": "potter-facies",
        "name": "Potter facies",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/potter-facies"
      },
      {
        "slug": "redundant-neck-skin",
        "name": "Redundant neck skin",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/redundant-neck-skin"
      },
      {
        "slug": "renal-dysplasia",
        "name": "Renal dysplasia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/renal-dysplasia"
      },
      {
        "slug": "brachydactyly",
        "name": "Short fingers or toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/brachydactyly"
      },
      {
        "slug": "short-neck",
        "name": "Short neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/short-neck"
      },
      {
        "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": "hypoplasia-of-the-brainstem",
        "name": "Small brainstem",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-brainstem"
      },
      {
        "slug": "cerebellar-hypoplasia",
        "name": "Small cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-hypoplasia"
      },
      {
        "slug": "renal-hypoplasia",
        "name": "Small kidneys",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/renal-hypoplasia"
      },
      {
        "slug": "microretrognathia",
        "name": "Small retruded chin",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microretrognathia"
      },
      {
        "slug": "ureteral-agenesis",
        "name": "Ureteral agenesis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ureteral-agenesis"
      },
      {
        "slug": "2-3-toe-syndactyly",
        "name": "Webbed 2nd and 3rd toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/2-3-toe-syndactyly"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}