{
  "url": "https://dantelabs.com/fi/genes/ctnnbl1",
  "gene": {
    "slug": "ctnnbl1",
    "symbol": "CTNNBL1",
    "name": "catenin beta like 1",
    "hgnc": "HGNC:15879",
    "summary": null,
    "location": "20q11.23",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ21108",
      "P14L",
      "P14",
      "NAP",
      "NYD-SP19"
    ],
    "previousSymbols": [
      "C20orf33"
    ],
    "ensemblId": "ENSG00000132792",
    "entrezId": 56259,
    "omim": [
      "611537"
    ],
    "uniprot": [
      "Q8WYA6"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "20",
      "start": 37694030,
      "end": 37872118,
      "strand": "+",
      "ensemblTranscript": "ENST00000361383.11",
      "refseqTranscript": "NM_030877.5",
      "ensemblProtein": "ENSP00000355050.6",
      "refseqProtein": "NP_110517.2",
      "exons": [
        {
          "start": 37694030,
          "end": 37694152
        },
        {
          "start": 37732879,
          "end": 37733067
        },
        {
          "start": 37737378,
          "end": 37737484
        },
        {
          "start": 37746468,
          "end": 37746607
        },
        {
          "start": 37757559,
          "end": 37757656
        },
        {
          "start": 37765197,
          "end": 37765290
        },
        {
          "start": 37767953,
          "end": 37768044
        },
        {
          "start": 37777345,
          "end": 37777417
        },
        {
          "start": 37777654,
          "end": 37777712
        },
        {
          "start": 37779187,
          "end": 37779335
        },
        {
          "start": 37802867,
          "end": 37803048
        },
        {
          "start": 37840102,
          "end": 37840199
        },
        {
          "start": 37842339,
          "end": 37842419
        },
        {
          "start": 37859899,
          "end": 37860036
        },
        {
          "start": 37860272,
          "end": 37860344
        },
        {
          "start": 37871925,
          "end": 37872118
        }
      ],
      "cds": {
        "start": 37694123,
        "end": 37872013
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "20",
      "start": 36322408,
      "end": 36500531,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 37283074,
      "end": 38283073,
      "genes": [
        {
          "symbol": "MANBAL",
          "ensemblId": "ENSG00000101363",
          "biotype": "protein_coding",
          "start": 37289559,
          "end": 37317260,
          "strand": "+",
          "slug": "manbal"
        },
        {
          "symbol": "SRC",
          "ensemblId": "ENSG00000197122",
          "biotype": "protein_coding",
          "start": 37344673,
          "end": 37406050,
          "strand": "+",
          "slug": "src"
        },
        {
          "symbol": "BLCAP",
          "ensemblId": "ENSG00000166619",
          "biotype": "protein_coding",
          "start": 37492472,
          "end": 37528100,
          "strand": "-",
          "slug": "blcap"
        },
        {
          "symbol": "NNAT",
          "ensemblId": "ENSG00000053438",
          "biotype": "protein_coding",
          "start": 37521201,
          "end": 37523690,
          "strand": "+",
          "slug": "nnat"
        },
        {
          "symbol": "VSTM2L",
          "ensemblId": "ENSG00000132821",
          "biotype": "protein_coding",
          "start": 37902987,
          "end": 37945354,
          "strand": "+",
          "slug": "vstm2l"
        },
        {
          "symbol": "TTI1",
          "ensemblId": "ENSG00000101407",
          "biotype": "protein_coding",
          "start": 37983007,
          "end": 38033461,
          "strand": "-",
          "slug": "tti1"
        },
        {
          "symbol": "RPRD1B",
          "ensemblId": "ENSG00000101413",
          "biotype": "protein_coding",
          "start": 38033514,
          "end": 38127780,
          "strand": "+",
          "slug": "rprd1b"
        },
        {
          "symbol": "TGM2",
          "ensemblId": "ENSG00000198959",
          "biotype": "protein_coding",
          "start": 38127385,
          "end": 38168463,
          "strand": "-",
          "slug": "tgm2"
        },
        {
          "symbol": "KIAA1755",
          "ensemblId": "ENSG00000149633",
          "biotype": "protein_coding",
          "start": 38210503,
          "end": 38261039,
          "strand": "-",
          "slug": "kiaa1755"
        },
        {
          "symbol": "BPI",
          "ensemblId": "ENSG00000101425",
          "biotype": "protein_coding",
          "start": 38260141,
          "end": 38337505,
          "strand": "+",
          "slug": "bpi"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "absent-specific-antibody-response",
        "name": "Absent specific antibody response",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/absent-specific-antibody-response"
      },
      {
        "slug": "autoimmune-thrombocytopenia",
        "name": "Autoimmune thrombocytopenia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/autoimmune-thrombocytopenia"
      },
      {
        "slug": "vitiligo",
        "name": "Blotchy loss of skin color",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/vitiligo"
      },
      {
        "slug": "decreased-total-lymphocyte-count",
        "name": "Decreased blood lymphocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "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": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-immunoglobulin-concentration"
      },
      {
        "slug": "decreased-class-switched-memory-b-cell-proportion",
        "name": "Decreased class-switched memory B cell proportion",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-class-switched-memory-b-cell-proportion"
      },
      {
        "slug": "decreased-regulatory-t-cell-proportion",
        "name": "Decreased regulatory T cell proportion",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-regulatory-t-cell-proportion"
      },
      {
        "slug": "follicular-hyperplasia",
        "name": "Follicular hyperplasia",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/follicular-hyperplasia"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "recurrent-sinopulmonary-infections",
        "name": "Recurrent sinus and lung infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-sinopulmonary-infections"
      },
      {
        "slug": "lymphadenopathy",
        "name": "Swollen lymph nodes",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lymphadenopathy"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}