{
  "url": "https://dantelabs.com/et/genes/cdca7",
  "gene": {
    "slug": "cdca7",
    "symbol": "CDCA7",
    "name": "cell division cycle associated 7",
    "hgnc": "HGNC:14628",
    "summary": null,
    "location": "2q31.1",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ14736",
      "JPO1"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000144354",
    "entrezId": 83879,
    "omim": [
      "609937"
    ],
    "uniprot": [
      "Q9BWT1"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 173354872,
      "end": 173368997,
      "strand": "+",
      "ensemblTranscript": "ENST00000306721.8",
      "refseqTranscript": "NM_031942.5",
      "ensemblProtein": "ENSP00000306968.3",
      "refseqProtein": "NP_114148.3",
      "exons": [
        {
          "start": 173354872,
          "end": 173354984
        },
        {
          "start": 173358712,
          "end": 173358837
        },
        {
          "start": 173359255,
          "end": 173359491
        },
        {
          "start": 173363226,
          "end": 173363462
        },
        {
          "start": 173363818,
          "end": 173363895
        },
        {
          "start": 173364795,
          "end": 173364989
        },
        {
          "start": 173365452,
          "end": 173365592
        },
        {
          "start": 173366283,
          "end": 173366432
        },
        {
          "start": 173367150,
          "end": 173367286
        },
        {
          "start": 173367634,
          "end": 173368997
        }
      ],
      "cds": {
        "start": 173354964,
        "end": 173367664
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 174219548,
      "end": 174233725,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 172861935,
      "end": 173861934,
      "genes": [
        {
          "symbol": "RAPGEF4",
          "ensemblId": "ENSG00000091428",
          "biotype": "protein_coding",
          "start": 172735274,
          "end": 173054364,
          "strand": "+",
          "slug": "rapgef4"
        },
        {
          "symbol": "MAP3K20",
          "ensemblId": "ENSG00000091436",
          "biotype": "protein_coding",
          "start": 173057181,
          "end": 173268909,
          "strand": "+",
          "slug": "map3k20"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "dyskeratosis-congenita",
        "name": "Düskeratosis congenita",
        "diseases": [
          {
            "mondoId": "MONDO:0100137",
            "name": "Telomeeride sündroomid",
            "genes": 16,
            "inheritance": null,
            "description": "Telomeeride säilitamisega seotud geenides, nagu TERT, TERC, RTEL1 ja PARN, esinevate variantide põhjustatud lühikeste telomeeride häired, mis võivad põhjustada luuüdi talitlushäireid, kopsufibroosi ja maksahaigust ka siis, kui klassikalisi nahamuutusi ei esine.",
            "management": "Soovitatav on jälgida vereanalüüside, kopsude ja maksa seisundit ning diagnoos aitab valida doonorit ja ravi kõdusoolerakkude siirdamisel.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/et/conditions/dyskeratosis-congenita"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormality-of-chromosome-stability",
        "name": "Abnormality of chromosome stability",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-chromosome-stability"
      },
      {
        "slug": "abnormality-of-neutrophils",
        "name": "Abnormality of neutrophils",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-neutrophils"
      },
      {
        "slug": "macroglossia",
        "name": "Abnormally large tongue",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/macroglossia"
      },
      {
        "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": "agammaglobulinemia",
        "name": "Agammaglobulinemia",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/agammaglobulinemia"
      },
      {
        "slug": "macrocephaly",
        "name": "Big calvaria",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/macrocephaly"
      },
      {
        "slug": "cellular-immunodeficiency",
        "name": "Cellular immunodeficiency",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cellular-immunodeficiency"
      },
      {
        "slug": "communicating-hydrocephalus",
        "name": "Communicating hydrocephalus",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/communicating-hydrocephalus"
      },
      {
        "slug": "conductive-hearing-impairment",
        "name": "Conductive deafness",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/conductive-hearing-impairment"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "decreased-total-lymphocyte-count",
        "name": "Decreased blood lymphocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-total-lymphocyte-count"
      },
      {
        "slug": "decreased-circulating-immunoglobulin-concentration",
        "name": "Decreased circulating antibody level",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-immunoglobulin-concentration"
      },
      {
        "slug": "immunodeficiency",
        "name": "Decreased immune function",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/immunodeficiency"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "flat-face",
        "name": "Flat face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/flat-face"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "hypoplastic-ischia",
        "name": "Hypoplastic ischia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypoplastic-ischia"
      },
      {
        "slug": "hypospadias",
        "name": "Hypospadias",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/hypospadias"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "malabsorption",
        "name": "Malabsorption",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/malabsorption"
      },
      {
        "slug": "polydactyly",
        "name": "More than five fingers or toes on hands or feet",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/polydactyly"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "protruding-tongue",
        "name": "Protruding tongue",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/protruding-tongue"
      },
      {
        "slug": "recurrent-infections",
        "name": "Recurrent infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-infections"
      },
      {
        "slug": "recurrent-otitis-media",
        "name": "Recurrent middle ear infection",
        "systems": [
          "abnormality-of-the-ear",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/recurrent-otitis-media"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "short-nose",
        "name": "Short nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/short-nose"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "umbilical-hernia",
        "name": "Umbilical hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/umbilical-hernia"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [
      {
        "slug": "acd",
        "symbol": "ACD",
        "name": "ACD shelterin complex subunit and telomerase recruitment factor",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/acd"
      },
      {
        "slug": "ctc1",
        "symbol": "CTC1",
        "name": "CST telomere replication complex component 1",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/ctc1"
      },
      {
        "slug": "dnmt3b",
        "symbol": "DNMT3B",
        "name": "DNA methyltransferase 3 beta",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/dnmt3b"
      },
      {
        "slug": "hells",
        "symbol": "HELLS",
        "name": "helicase, lymphoid specific",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/hells"
      },
      {
        "slug": "naf1",
        "symbol": "NAF1",
        "name": "nuclear assembly factor 1 ribonucleoprotein",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/naf1"
      },
      {
        "slug": "parn",
        "symbol": "PARN",
        "name": "poly(A)-specific ribonuclease",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/parn"
      },
      {
        "slug": "pola2",
        "symbol": "POLA2",
        "name": "DNA polymerase alpha 2, accessory subunit",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/pola2"
      },
      {
        "slug": "pot1",
        "symbol": "POT1",
        "name": "protection of telomeres 1",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/pot1"
      },
      {
        "slug": "rpa1",
        "symbol": "RPA1",
        "name": "replication protein A1",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/rpa1"
      },
      {
        "slug": "rtel1",
        "symbol": "RTEL1",
        "name": "regulator of telomere elongation helicase 1",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/rtel1"
      },
      {
        "slug": "stn1",
        "symbol": "STN1",
        "name": "STN1 subunit of CST complex",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/stn1"
      },
      {
        "slug": "terc",
        "symbol": "TERC",
        "name": "telomerase RNA component",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/terc"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}