{
  "url": "https://dantelabs.com/ko/genes/cenpf",
  "gene": {
    "slug": "cenpf",
    "symbol": "CENPF",
    "name": "centromere protein F",
    "hgnc": "HGNC:1857",
    "summary": null,
    "location": "1q41",
    "locusType": "gene with protein product",
    "aliases": [
      "hcp-1"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000117724",
    "entrezId": 1063,
    "omim": [
      "600236"
    ],
    "uniprot": [
      "P49454"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 214603195,
      "end": 214664571,
      "strand": "+",
      "ensemblTranscript": "ENST00000366955.8",
      "refseqTranscript": "NM_016343.4",
      "ensemblProtein": "ENSP00000355922.3",
      "refseqProtein": "NP_057427.3",
      "exons": [
        {
          "start": 214603195,
          "end": 214603321
        },
        {
          "start": 214613714,
          "end": 214613916
        },
        {
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        },
        {
          "start": 214618573,
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        },
        {
          "start": 214619129,
          "end": 214619220
        },
        {
          "start": 214620655,
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        },
        {
          "start": 214622079,
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        },
        {
          "start": 214629046,
          "end": 214629171
        },
        {
          "start": 214630534,
          "end": 214630662
        },
        {
          "start": 214632480,
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        },
        {
          "start": 214637866,
          "end": 214638001
        },
        {
          "start": 214639921,
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        },
        {
          "start": 214644557,
          "end": 214647400
        },
        {
          "start": 214648675,
          "end": 214648827
        },
        {
          "start": 214651710,
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        },
        {
          "start": 214652828,
          "end": 214652989
        },
        {
          "start": 214655241,
          "end": 214655403
        },
        {
          "start": 214656933,
          "end": 214657409
        },
        {
          "start": 214658850,
          "end": 214659028
        },
        {
          "start": 214663591,
          "end": 214664571
        }
      ],
      "cds": {
        "start": 214613755,
        "end": 214663794
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 214776538,
      "end": 214837931,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 214133883,
      "end": 215133882,
      "genes": [
        {
          "symbol": "SMYD2",
          "ensemblId": "ENSG00000143499",
          "biotype": "protein_coding",
          "start": 214280722,
          "end": 214338880,
          "strand": "+",
          "slug": "smyd2"
        },
        {
          "symbol": "PTPN14",
          "ensemblId": "ENSG00000152104",
          "biotype": "protein_coding",
          "start": 214348700,
          "end": 214552449,
          "strand": "-",
          "slug": "ptpn14"
        },
        {
          "symbol": "KCNK2",
          "ensemblId": "ENSG00000082482",
          "biotype": "protein_coding",
          "start": 215005775,
          "end": 215237329,
          "strand": "+",
          "slug": "kcnk2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "primary-ciliary-dyskinesia",
        "name": "원발성 섬모 운동이상증",
        "diseases": [
          {
            "mondoId": "MONDO:0016575",
            "name": "원발성 섬모 운동이상증",
            "genes": 50,
            "inheritance": "autosomal-recessive",
            "description": "만성 상기도 및 하기도 질환을 특징으로 하는 희귀 유전질환으로, 유전적 원인이 다양하며 주로 호흡기에 증상이 나타납니다. 원발성 섬모 운동이상증 환자의 약 절반에서 장기 좌우 배열 이상(완전 내장 전위증 또는 불완전 내장 전위증/이형성증)이 나타납니다.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Genomics England PanelApp",
                "Illumina",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ko/conditions/primary-ciliary-dyskinesia"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "microphthalmia",
        "name": "Abnormally small eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/microphthalmia"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "duodenal-atresia",
        "name": "Absence or narrowing of first part of small bowel",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/duodenal-atresia"
      },
      {
        "slug": "accessory-spleen",
        "name": "Accessory spleen",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/accessory-spleen"
      },
      {
        "slug": "agenesis-of-corpus-callosum",
        "name": "Agenesis of corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum"
      },
      {
        "slug": "bilateral-renal-hypoplasia",
        "name": "Bilateral renal hypoplasia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/bilateral-renal-hypoplasia"
      },
      {
        "slug": "iris-coloboma",
        "name": "Cat eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/iris-coloboma"
      },
      {
        "slug": "cerebellar-vermis-hypoplasia",
        "name": "Cerebellar vermis hypoplasia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cerebellar-vermis-hypoplasia"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "microcornea",
        "name": "Cornea of eye less than 10mm in diameter",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/microcornea"
      },
      {
        "slug": "deeply-set-eye",
        "name": "Deeply set eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/deeply-set-eye"
      },
      {
        "slug": "sclerocornea",
        "name": "Hardening of skin and connective tissue",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/sclerocornea"
      },
      {
        "slug": "hydronephrosis",
        "name": "Hydronephrosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/hydronephrosis"
      },
      {
        "slug": "intestinal-malrotation",
        "name": "Intestinal malrotation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/intestinal-malrotation"
      },
      {
        "slug": "jejunal-atresia",
        "name": "Jejunal atresia",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/jejunal-atresia"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "myopathy",
        "name": "Muscle tissue disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/myopathy"
      },
      {
        "slug": "optic-nerve-hypoplasia",
        "name": "Optic nerve hypoplasia",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/optic-nerve-hypoplasia"
      },
      {
        "slug": "peters-anomaly",
        "name": "Peters anomaly",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/peters-anomaly"
      },
      {
        "slug": "preaxial-polydactyly",
        "name": "Preaxial polydactyly",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/preaxial-polydactyly"
      },
      {
        "slug": "prominent-nasal-bridge",
        "name": "Prominent nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/prominent-nasal-bridge"
      },
      {
        "slug": "retinal-vascular-tortuosity",
        "name": "Retinal vascular tortuosity",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/retinal-vascular-tortuosity"
      },
      {
        "slug": "short-columella",
        "name": "Short columella",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/short-columella"
      },
      {
        "slug": "cerebellar-hypoplasia",
        "name": "Small cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cerebellar-hypoplasia"
      },
      {
        "slug": "hydrocephalus",
        "name": "Too much cerebrospinal fluid in the brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hydrocephalus"
      },
      {
        "slug": "wide-mouth",
        "name": "Wide mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/wide-mouth"
      },
      {
        "slug": "wide-nasal-bridge",
        "name": "Wide nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/wide-nasal-bridge"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [
      {
        "slug": "ccdc39",
        "symbol": "CCDC39",
        "name": "coiled-coil domain 39 molecular ruler complex subunit",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/ccdc39"
      },
      {
        "slug": "ccdc40",
        "symbol": "CCDC40",
        "name": "coiled-coil domain 40 molecular ruler complex subunit",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/ccdc40"
      },
      {
        "slug": "ccno",
        "symbol": "CCNO",
        "name": "cyclin O",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/ccno"
      },
      {
        "slug": "cfap20dc",
        "symbol": "CFAP20DC",
        "name": "CFAP20 domain containing",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/cfap20dc"
      },
      {
        "slug": "cfap221",
        "symbol": "CFAP221",
        "name": "cilia and flagella associated protein 221",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/cfap221"
      },
      {
        "slug": "cfap298",
        "symbol": "CFAP298",
        "name": "cilia and flagella associated protein 298",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/cfap298"
      },
      {
        "slug": "cfap300",
        "symbol": "CFAP300",
        "name": "cilia and flagella associated protein 300",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/cfap300"
      },
      {
        "slug": "cfap54",
        "symbol": "CFAP54",
        "name": "cilia and flagella associated protein 54",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/cfap54"
      },
      {
        "slug": "clxn",
        "symbol": "CLXN",
        "name": "calaxin",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/clxn"
      },
      {
        "slug": "daw1",
        "symbol": "DAW1",
        "name": "dynein assembly factor with WD repeats 1",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/daw1"
      },
      {
        "slug": "dnaaf1",
        "symbol": "DNAAF1",
        "name": "dynein axonemal assembly factor 1",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/dnaaf1"
      },
      {
        "slug": "dnaaf11",
        "symbol": "DNAAF11",
        "name": "dynein axonemal assembly factor 11",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/dnaaf11"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}