{
  "url": "https://dantelabs.com/hu/genes/uhrf1",
  "gene": {
    "slug": "uhrf1",
    "symbol": "UHRF1",
    "name": "ubiquitin like with PHD and ring finger domains 1",
    "hgnc": "HGNC:12556",
    "summary": null,
    "location": "19p13.3",
    "locusType": "gene with protein product",
    "aliases": [
      "ICBP90",
      "Np95",
      "FLJ21925",
      "RNF106",
      "TDRD22"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000276043",
    "entrezId": 29128,
    "omim": [
      "607990"
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    "uniprot": [
      "Q96T88"
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    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "19",
      "start": 4909501,
      "end": 4962154,
      "strand": "+",
      "ensemblTranscript": "ENST00000650932.1",
      "refseqTranscript": "NM_001048201.3",
      "ensemblProtein": "ENSP00000498698.1",
      "refseqProtein": "NP_001041666.1",
      "exons": [
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      "cds": {
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "19",
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      "end": 4962165,
      "strand": "+"
    },
    "neighbourhood": {
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      "genes": [
        {
          "symbol": "CHAF1A",
          "ensemblId": "ENSG00000167670",
          "biotype": "protein_coding",
          "start": 4402522,
          "end": 4445018,
          "strand": "+",
          "slug": "chaf1a"
        },
        {
          "symbol": "UBXN6",
          "ensemblId": "ENSG00000167671",
          "biotype": "protein_coding",
          "start": 4444999,
          "end": 4457794,
          "strand": "-",
          "slug": "ubxn6"
        },
        {
          "symbol": "HDGFL2",
          "ensemblId": "ENSG00000167674",
          "biotype": "protein_coding",
          "start": 4472244,
          "end": 4502225,
          "strand": "+",
          "slug": "hdgfl2"
        },
        {
          "symbol": "PLIN4",
          "ensemblId": "ENSG00000167676",
          "biotype": "protein_coding",
          "start": 4502182,
          "end": 4520379,
          "strand": "-",
          "slug": "plin4"
        },
        {
          "symbol": "PLIN5",
          "ensemblId": "ENSG00000214456",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "plin5"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000267385",
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          "end": 4540067,
          "strand": "-"
        },
        {
          "symbol": "LRG1",
          "ensemblId": "ENSG00000171236",
          "biotype": "protein_coding",
          "start": 4536402,
          "end": 4540104,
          "strand": "-",
          "slug": "lrg1"
        },
        {
          "symbol": "SEMA6B",
          "ensemblId": "ENSG00000167680",
          "biotype": "protein_coding",
          "start": 4542588,
          "end": 4581795,
          "strand": "-",
          "slug": "sema6b"
        },
        {
          "symbol": "TIPE1",
          "ensemblId": "ENSG00000185361",
          "biotype": "protein_coding",
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          "slug": "tipe1"
        },
        {
          "symbol": "MYDGF",
          "ensemblId": "ENSG00000074842",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "mydgf"
        },
        {
          "symbol": "DPP9",
          "ensemblId": "ENSG00000142002",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "dpp9"
        },
        {
          "symbol": "FEM1A",
          "ensemblId": "ENSG00000141965",
          "biotype": "protein_coding",
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          "end": 4801273,
          "strand": "+",
          "slug": "fem1a"
        },
        {
          "symbol": "TICAM1",
          "ensemblId": "ENSG00000127666",
          "biotype": "protein_coding",
          "start": 4815932,
          "end": 4831749,
          "strand": "-",
          "slug": "ticam1"
        },
        {
          "symbol": "PLIN3",
          "ensemblId": "ENSG00000105355",
          "biotype": "protein_coding",
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          "slug": "plin3"
        },
        {
          "symbol": "ARRDC5",
          "ensemblId": "ENSG00000205784",
          "biotype": "protein_coding",
          "start": 4890437,
          "end": 4902948,
          "strand": "-",
          "slug": "arrdc5"
        },
        {
          "symbol": "KDM4B",
          "ensemblId": "ENSG00000127663",
          "biotype": "protein_coding",
          "start": 4969106,
          "end": 5153611,
          "strand": "+",
          "slug": "kdm4b"
        },
        {
          "symbol": "PTPRS",
          "ensemblId": "ENSG00000105426",
          "biotype": "protein_coding",
          "start": 5158495,
          "end": 5340941,
          "strand": "-",
          "slug": "ptprs"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "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": "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": "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": "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": "protruding-tongue",
        "name": "Protruding tongue",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/protruding-tongue"
      },
      {
        "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-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": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}