{
  "url": "https://dantelabs.com/lt/genes/cdt1",
  "gene": {
    "slug": "cdt1",
    "symbol": "CDT1",
    "name": "chromatin licensing and DNA replication factor 1",
    "hgnc": "HGNC:24576",
    "summary": null,
    "location": "16q24.3",
    "locusType": "gene with protein product",
    "aliases": [
      "DUP",
      "RIS2"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000167513",
    "entrezId": 81620,
    "omim": [
      "605525"
    ],
    "uniprot": [
      "Q9H211"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "16",
      "start": 88803789,
      "end": 88809258,
      "strand": "+",
      "ensemblTranscript": "ENST00000301019.9",
      "refseqTranscript": "NM_030928.4",
      "ensemblProtein": "ENSP00000301019.4",
      "refseqProtein": "NP_112190.2",
      "exons": [
        {
          "start": 88803789,
          "end": 88804059
        },
        {
          "start": 88804545,
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        {
          "start": 88804762,
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        {
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          "start": 88805724,
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        {
          "start": 88806021,
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        {
          "start": 88806486,
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        },
        {
          "start": 88807051,
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        },
        {
          "start": 88807281,
          "end": 88807482
        },
        {
          "start": 88808115,
          "end": 88809258
        }
      ],
      "cds": {
        "start": 88803832,
        "end": 88808278
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "16",
      "start": 88869621,
      "end": 88875666,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 88306524,
      "end": 89306523,
      "genes": [
        {
          "symbol": "ZNF469",
          "ensemblId": "ENSG00000225614",
          "biotype": "protein_coding",
          "start": 88382959,
          "end": 88440757,
          "strand": "+",
          "slug": "znf469"
        },
        {
          "symbol": "ZFPM1",
          "ensemblId": "ENSG00000179588",
          "biotype": "protein_coding",
          "start": 88453208,
          "end": 88537031,
          "strand": "+",
          "slug": "zfpm1"
        },
        {
          "symbol": "ZC3H18",
          "ensemblId": "ENSG00000158545",
          "biotype": "protein_coding",
          "start": 88570388,
          "end": 88631966,
          "strand": "+",
          "slug": "zc3h18"
        },
        {
          "symbol": "IL17C",
          "ensemblId": "ENSG00000124391",
          "biotype": "protein_coding",
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          "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",
          "start": 88696494,
          "end": 88706424,
          "strand": "-",
          "slug": "rnf166"
        },
        {
          "symbol": "CTU2",
          "ensemblId": "ENSG00000174177",
          "biotype": "protein_coding",
          "start": 88706470,
          "end": 88717853,
          "strand": "+",
          "slug": "ctu2"
        },
        {
          "symbol": "PIEZO1",
          "ensemblId": "ENSG00000103335",
          "biotype": "protein_coding",
          "start": 88715338,
          "end": 88785251,
          "strand": "-",
          "slug": "piezo1"
        },
        {
          "symbol": "APRT",
          "ensemblId": "ENSG00000198931",
          "biotype": "protein_coding",
          "start": 88808323,
          "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"
        },
        {
          "symbol": "ZNF778",
          "ensemblId": "ENSG00000170100",
          "biotype": "protein_coding",
          "start": 89217683,
          "end": 89237141,
          "strand": "+",
          "slug": "znf778"
        },
        {
          "symbol": "ANKRD11",
          "ensemblId": "ENSG00000167522",
          "biotype": "protein_coding",
          "start": 89267619,
          "end": 89490706,
          "strand": "-",
          "slug": "ankrd11"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-epiphysis-morphology",
        "name": "Abnormal shape of end part of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-epiphysis-morphology"
      },
      {
        "slug": "microtia-third-degree",
        "name": "Abnormal shape/structure of ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/microtia-third-degree"
      },
      {
        "slug": "abnormality-of-the-outer-ear",
        "name": "Abnormality of the outer ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-outer-ear"
      },
      {
        "slug": "abnormal-rib-morphology",
        "name": "Abnormality of the ribs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-rib-morphology"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "mandibular-aplasia",
        "name": "Absence of lower jaw bones",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/mandibular-aplasia"
      },
      {
        "slug": "breast-aplasia",
        "name": "Absent breast",
        "systems": [
          "abnormality-of-the-breast"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/breast-aplasia"
      },
      {
        "slug": "aplastic-clavicle",
        "name": "Absent collarbone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplastic-clavicle"
      },
      {
        "slug": "anotia",
        "name": "Absent ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/anotia"
      },
      {
        "slug": "atresia-of-the-external-auditory-canal",
        "name": "Absent ear canal",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/atresia-of-the-external-auditory-canal"
      },
      {
        "slug": "patellar-aplasia",
        "name": "Absent kneecap",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/patellar-aplasia"
      },
      {
        "slug": "genu-recurvatum",
        "name": "Back knee",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/genu-recurvatum"
      },
      {
        "slug": "bifid-uvula",
        "name": "Bifid uvula",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bifid-uvula"
      },
      {
        "slug": "birth-length-less-than-3rd-percentile",
        "name": "Birth length less than 3rd percentile",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/birth-length-less-than-3rd-percentile"
      },
      {
        "slug": "respiratory-distress",
        "name": "Breathing difficulties",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/respiratory-distress"
      },
      {
        "slug": "dyspnea",
        "name": "Breathing difficulty",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dyspnea"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "clinodactyly-of-the-5th-finger",
        "name": "Curvature of little finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/clinodactyly-of-the-5th-finger"
      },
      {
        "slug": "hypoplasia-of-the-maxilla",
        "name": "Decreased size of maxilla",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-maxilla"
      },
      {
        "slug": "craniosynostosis",
        "name": "Deformity of the skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/craniosynostosis"
      },
      {
        "slug": "delayed-skeletal-maturation",
        "name": "Delayed bone maturation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/delayed-skeletal-maturation"
      },
      {
        "slug": "joint-hypermobility",
        "name": "Double-Jointed",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/joint-hypermobility"
      },
      {
        "slug": "posteriorly-rotated-ears",
        "name": "Ears rotated toward back of head",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/posteriorly-rotated-ears"
      },
      {
        "slug": "elbow-dislocation",
        "name": "Elbow dislocation",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elbow-dislocation"
      },
      {
        "slug": "emphysema",
        "name": "Emphysema",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/emphysema"
      },
      {
        "slug": "clitoral-hypertrophy",
        "name": "Enlarged clitoris",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/clitoral-hypertrophy"
      },
      {
        "slug": "epispadias",
        "name": "Epispadias",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/epispadias"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "thick-vermilion-border",
        "name": "Full lips",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thick-vermilion-border"
      },
      {
        "slug": "thick-lower-lip-vermilion",
        "name": "Full lower lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/thick-lower-lip-vermilion"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "high-narrow-palate",
        "name": "High, narrow palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/high-narrow-palate"
      },
      {
        "slug": "lateral-clavicle-hook",
        "name": "Hook-shaped collarbone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/lateral-clavicle-hook"
      },
      {
        "slug": "hypospadias",
        "name": "Hypospadias",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypospadias"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "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": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "narrow-mouth",
        "name": "Narrow mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/narrow-mouth"
      },
      {
        "slug": "camptodactyly-of-finger",
        "name": "Permanent flexion of the finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/camptodactyly-of-finger"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-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": "very-frequent",
        "url": "https://dantelabs.com/traits/retrognathia"
      },
      {
        "slug": "respiratory-failure",
        "name": "Respiratory failure",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/respiratory-failure"
      },
      {
        "slug": "severe-short-stature",
        "name": "Severe short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/severe-short-stature"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "slender-long-bone",
        "name": "Slender long bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/slender-long-bone"
      },
      {
        "slug": "clitoral-hypoplasia",
        "name": "Small clitoris",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/clitoral-hypoplasia"
      },
      {
        "slug": "microtia",
        "name": "Small ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microtia"
      },
      {
        "slug": "hypoplastic-labia-majora",
        "name": "Small labia majora",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplastic-labia-majora"
      },
      {
        "slug": "specific-learning-disability",
        "name": "Specific learning disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/specific-learning-disability"
      },
      {
        "slug": "submucous-cleft-hard-palate",
        "name": "Submucous cleft hard palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/submucous-cleft-hard-palate"
      },
      {
        "slug": "breast-hypoplasia",
        "name": "Underdeveloped breasts",
        "systems": [
          "abnormality-of-the-breast"
        ],
        "url": "https://dantelabs.com/traits/breast-hypoplasia"
      },
      {
        "slug": "hypoplastic-labia-minora",
        "name": "Underdeveloped inner lips",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplastic-labia-minora"
      },
      {
        "slug": "hypoplasia-of-penis",
        "name": "Underdeveloped penis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplasia-of-penis"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}