{
  "url": "https://dantelabs.com/ko/genes/cby1",
  "gene": {
    "slug": "cby1",
    "symbol": "CBY1",
    "name": "chibby 1, beta catenin antagonist",
    "hgnc": "HGNC:1307",
    "summary": null,
    "location": "22q13.1",
    "locusType": "gene with protein product",
    "aliases": [
      "PIGEA14",
      "PIGEA-14",
      "Chibby",
      "Cby",
      "Chibby1"
    ],
    "previousSymbols": [
      "C22orf2",
      "PGEA1"
    ],
    "ensemblId": "ENSG00000100211",
    "entrezId": 25776,
    "omim": [
      "607757"
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    "uniprot": [
      "Q9Y3M2"
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      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "22",
      "start": 38656638,
      "end": 38673850,
      "strand": "+",
      "ensemblTranscript": "ENST00000216029.8",
      "refseqTranscript": "NM_015373.4",
      "ensemblProtein": "ENSP00000216029.3",
      "refseqProtein": "NP_056188.1",
      "exons": [
        {
          "start": 38656638,
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        {
          "start": 38668017,
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        {
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        {
          "start": 38673159,
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      ],
      "cds": {
        "start": 38668055,
        "end": 38673236
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "22",
      "start": 39052641,
      "end": 39069859,
      "strand": "+"
    },
    "neighbourhood": {
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      "start": 38165244,
      "end": 39165243,
      "genes": [
        {
          "symbol": "PLA2G6",
          "ensemblId": "ENSG00000184381",
          "biotype": "protein_coding",
          "start": 38111495,
          "end": 38214778,
          "strand": "-",
          "slug": "pla2g6"
        },
        {
          "symbol": "MAFF",
          "ensemblId": "ENSG00000185022",
          "biotype": "protein_coding",
          "start": 38200767,
          "end": 38219321,
          "strand": "+",
          "slug": "maff"
        },
        {
          "symbol": "TMEM184B",
          "ensemblId": "ENSG00000198792",
          "biotype": "protein_coding",
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          "end": 38273805,
          "strand": "-",
          "slug": "tmem184b"
        },
        {
          "symbol": "CSNK1E",
          "ensemblId": "ENSG00000213923",
          "biotype": "protein_coding",
          "start": 38281747,
          "end": 38320044,
          "strand": "-",
          "slug": "csnk1e"
        },
        {
          "symbol": "TPTEP2-CSNK1E",
          "ensemblId": "ENSG00000283900",
          "biotype": "protein_coding",
          "start": 38291918,
          "end": 38398522,
          "strand": "-",
          "slug": "tptep2-csnk1e"
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        {
          "symbol": "KCNJ4",
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          "biotype": "protein_coding",
          "start": 38426327,
          "end": 38455902,
          "strand": "-",
          "slug": "kcnj4"
        },
        {
          "symbol": "KDELR3",
          "ensemblId": "ENSG00000100196",
          "biotype": "protein_coding",
          "start": 38468021,
          "end": 38483762,
          "strand": "+",
          "slug": "kdelr3"
        },
        {
          "symbol": "DDX17",
          "ensemblId": "ENSG00000100201",
          "biotype": "protein_coding",
          "start": 38483438,
          "end": 38507660,
          "strand": "-",
          "slug": "ddx17"
        },
        {
          "symbol": "DMC1",
          "ensemblId": "ENSG00000100206",
          "biotype": "protein_coding",
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          "end": 38570211,
          "strand": "-",
          "slug": "dmc1"
        },
        {
          "symbol": "FAM227A",
          "ensemblId": "ENSG00000184949",
          "biotype": "protein_coding",
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          "end": 38656629,
          "strand": "-",
          "slug": "fam227a"
        },
        {
          "symbol": "TOMM22",
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          "biotype": "protein_coding",
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          "strand": "+",
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        {
          "symbol": "JOSD1",
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          "biotype": "protein_coding",
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          "end": 38701556,
          "strand": "-",
          "slug": "josd1"
        },
        {
          "symbol": "GTPBP1",
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          "biotype": "protein_coding",
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          "strand": "+",
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        },
        {
          "symbol": "SUN2",
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          "strand": "-",
          "slug": "sun2"
        },
        {
          "symbol": "DNAL4",
          "ensemblId": "ENSG00000100246",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "dnal4"
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        {
          "symbol": "NPTXR",
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          "biotype": "protein_coding",
          "start": 38818452,
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          "strand": "-",
          "slug": "nptxr"
        },
        {
          "symbol": "CBX6",
          "ensemblId": "ENSG00000183741",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "cbx6"
        },
        {
          "symbol": "APOBEC3A",
          "ensemblId": "ENSG00000128383",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "apobec3a"
        },
        {
          "symbol": "APOBEC3B",
          "ensemblId": "ENSG00000179750",
          "biotype": "protein_coding",
          "start": 38982347,
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          "strand": "+",
          "slug": "apobec3b"
        },
        {
          "symbol": "APOBEC3C",
          "ensemblId": "ENSG00000244509",
          "biotype": "protein_coding",
          "start": 39014163,
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          "strand": "+",
          "slug": "apobec3c"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000284554",
          "biotype": "protein_coding",
          "start": 39014363,
          "end": 39033276,
          "strand": "+"
        },
        {
          "symbol": "APOBEC3D",
          "ensemblId": "ENSG00000243811",
          "biotype": "protein_coding",
          "start": 39020952,
          "end": 39034327,
          "strand": "+",
          "slug": "apobec3d"
        },
        {
          "symbol": "APOBEC3F",
          "ensemblId": "ENSG00000128394",
          "biotype": "protein_coding",
          "start": 39040604,
          "end": 39055972,
          "strand": "+",
          "slug": "apobec3f"
        },
        {
          "symbol": "APOBEC3G",
          "ensemblId": "ENSG00000239713",
          "biotype": "protein_coding",
          "start": 39077054,
          "end": 39087744,
          "strand": "+",
          "slug": "apobec3g"
        },
        {
          "symbol": "APOBEC3H",
          "ensemblId": "ENSG00000100298",
          "biotype": "protein_coding",
          "start": 39096257,
          "end": 39104071,
          "strand": "+",
          "slug": "apobec3h"
        },
        {
          "symbol": "CBX7",
          "ensemblId": "ENSG00000100307",
          "biotype": "protein_coding",
          "start": 39119306,
          "end": 39152719,
          "strand": "-",
          "slug": "cbx7"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cardiovascular-system-morphology",
        "name": "Abnormal cardiovascular system morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-cardiovascular-system-morphology"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-pattern-of-respiration",
        "name": "Abnormal pattern of respiration",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-pattern-of-respiration"
      },
      {
        "slug": "abnormal-vertebral-body-morphology",
        "name": "Abnormal vertebral body morphology",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-vertebral-body-morphology"
      },
      {
        "slug": "abnormality-of-neuronal-migration",
        "name": "Abnormality of neuronal migration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-neuronal-migration"
      },
      {
        "slug": "abnormality-of-the-hypothalamus-pituitary-axis",
        "name": "Abnormality of the hypothalamus-pituitary axis",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-hypothalamus-pituitary-axis"
      },
      {
        "slug": "situs-inversus-totalis",
        "name": "All organs on wrong side of body",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/situs-inversus-totalis"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-corpus-callosum",
        "name": "Aplasia/Hypoplasia of the corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "apnea",
        "name": "Apnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/apnea"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "iris-coloboma",
        "name": "Cat eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/iris-coloboma"
      },
      {
        "slug": "cerebellar-vermis-hypoplasia",
        "name": "Cerebellar vermis hypoplasia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cerebellar-vermis-hypoplasia"
      },
      {
        "slug": "orofacial-cleft",
        "name": "Cleft of the mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/orofacial-cleft"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "biparietal-narrowing",
        "name": "Decreased width of the skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/biparietal-narrowing"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "foot-polydactyly",
        "name": "Duplication of bones of the toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/foot-polydactyly"
      },
      {
        "slug": "encephalocele",
        "name": "Encephalocele",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/encephalocele"
      },
      {
        "slug": "aganglionic-megacolon",
        "name": "Enlarged colon lacking nerve cells",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aganglionic-megacolon"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "episodic-tachypnea",
        "name": "Episodic tachypnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/episodic-tachypnea"
      },
      {
        "slug": "hand-polydactyly",
        "name": "Extra finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hand-polydactyly"
      },
      {
        "slug": "feeding-difficulties-in-infancy",
        "name": "Feeding difficulties in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "highly-arched-eyebrow",
        "name": "Highly arched eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/highly-arched-eyebrow"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "long-face",
        "name": "Long face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/long-face"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "polymicrogyria",
        "name": "More grooves in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/polymicrogyria"
      },
      {
        "slug": "anteverted-nares",
        "name": "Nasal tip, upturned",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anteverted-nares"
      },
      {
        "slug": "oculomotor-apraxia",
        "name": "Oculomotor apraxia",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/oculomotor-apraxia"
      },
      {
        "slug": "prominent-nasal-bridge",
        "name": "Prominent nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/prominent-nasal-bridge"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "hydrocephalus",
        "name": "Too much cerebrospinal fluid in the brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hydrocephalus"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tremor"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}