{
  "url": "https://dantelabs.com/fi/genes/usp27x",
  "gene": {
    "slug": "usp27x",
    "symbol": "USP27X",
    "name": "ubiquitin specific peptidase 27 X-linked",
    "hgnc": "HGNC:13486",
    "summary": null,
    "location": "Xp11.23",
    "locusType": "gene with protein product",
    "aliases": [
      "USP27"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000273820",
    "entrezId": 389856,
    "omim": [
      "300975"
    ],
    "uniprot": [
      "A6NNY8"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "X",
      "start": 49879484,
      "end": 49882558,
      "strand": "+",
      "ensemblTranscript": "ENST00000621775.2",
      "refseqTranscript": "NM_001145073.3",
      "ensemblProtein": "ENSP00000483631.1",
      "refseqProtein": "NP_001138545.1",
      "exons": [
        {
          "start": 49879484,
          "end": 49882558
        }
      ],
      "cds": {
        "start": 49880308,
        "end": 49881624
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "X",
      "start": 49644470,
      "end": 49647166,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 49381021,
      "end": 50381020,
      "genes": [
        {
          "symbol": "GAGE12B",
          "ensemblId": "ENSG00000236737",
          "biotype": "protein_coding",
          "start": 49529869,
          "end": 49529985,
          "strand": "+",
          "slug": "gage12b"
        },
        {
          "symbol": "GAGE12C",
          "ensemblId": "ENSG00000237671",
          "biotype": "protein_coding",
          "start": 49532177,
          "end": 49539541,
          "strand": "+",
          "slug": "gage12c"
        },
        {
          "symbol": "GAGE12D",
          "ensemblId": "ENSG00000227488",
          "biotype": "protein_coding",
          "start": 49541733,
          "end": 49549097,
          "strand": "+",
          "slug": "gage12d"
        },
        {
          "symbol": "GAGE12E",
          "ensemblId": "ENSG00000216649",
          "biotype": "protein_coding",
          "start": 49551289,
          "end": 49558645,
          "strand": "+",
          "slug": "gage12e"
        },
        {
          "symbol": "GAGE12F",
          "ensemblId": "ENSG00000236362",
          "biotype": "protein_coding",
          "start": 49560842,
          "end": 49568209,
          "strand": "+",
          "slug": "gage12f"
        },
        {
          "symbol": "GAGE12G",
          "ensemblId": "ENSG00000215269",
          "biotype": "protein_coding",
          "start": 49570400,
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          "strand": "+",
          "slug": "gage12g"
        },
        {
          "symbol": "GAGE12H",
          "ensemblId": "ENSG00000224902",
          "biotype": "protein_coding",
          "start": 49579945,
          "end": 49587304,
          "strand": "+",
          "slug": "gage12h"
        },
        {
          "symbol": "GAGE2A",
          "ensemblId": "ENSG00000189064",
          "biotype": "protein_coding",
          "start": 49589476,
          "end": 49596834,
          "strand": "+",
          "slug": "gage2a"
        },
        {
          "symbol": "GAGE1",
          "ensemblId": "ENSG00000205777",
          "biotype": "protein_coding",
          "start": 49599020,
          "end": 49608538,
          "strand": "+",
          "slug": "gage1"
        },
        {
          "symbol": "PAGE1",
          "ensemblId": "ENSG00000068985",
          "biotype": "protein_coding",
          "start": 49687445,
          "end": 49696024,
          "strand": "-",
          "slug": "page1"
        },
        {
          "symbol": "PAGE4",
          "ensemblId": "ENSG00000101951",
          "biotype": "protein_coding",
          "start": 49752516,
          "end": 49835255,
          "strand": "+",
          "slug": "page4"
        },
        {
          "symbol": "CLCN5",
          "ensemblId": "ENSG00000171365",
          "biotype": "protein_coding",
          "start": 49922549,
          "end": 50099235,
          "strand": "+",
          "slug": "clcn5"
        },
        {
          "symbol": "AKAP4",
          "ensemblId": "ENSG00000147081",
          "biotype": "protein_coding",
          "start": 50190777,
          "end": 50201007,
          "strand": "-",
          "slug": "akap4"
        },
        {
          "symbol": "CCNB3",
          "ensemblId": "ENSG00000147082",
          "biotype": "protein_coding",
          "start": 50202713,
          "end": 50351914,
          "strand": "+",
          "slug": "ccnb3"
        },
        {
          "symbol": "DGKK",
          "ensemblId": "ENSG00000274588",
          "biotype": "protein_coding",
          "start": 50365405,
          "end": 50470850,
          "strand": "-",
          "slug": "dgkk"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "epilepsy-report",
        "name": "Epilepsia (laaja paneeli)",
        "diseases": [
          {
            "mondoId": "MONDO:0100148",
            "name": "X-kromosomaalisesti periytyvä monimutkainen neurokehityksellinen häiriö",
            "genes": 25,
            "inheritance": null,
            "description": "Monimutkainen neurokehityksellinen häiriö, joka periytyy X-kromosomaalisesti ja jonka tunnusomaisia piirteitä ovat älyllinen kehitysvammaisuus, autismi ja epilepsia.",
            "management": null,
            "evidence": {
              "gencc": [],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/epilepsy-report"
      },
      {
        "slug": "intellectual-disability",
        "name": "Älyllinen kehitysvammaisuus",
        "diseases": [
          {
            "mondoId": "MONDO:0001071",
            "name": "älyllinen kehitysvammaisuus",
            "genes": 233,
            "inheritance": null,
            "description": null,
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/intellectual-disability"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "absent-speech",
        "name": "Absent speech development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/absent-speech"
      },
      {
        "slug": "atypical-behavior",
        "name": "Behavioral abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/intellectual-disability"
      }
    ],
    "related": [
      {
        "slug": "arhgef9",
        "symbol": "ARHGEF9",
        "name": "Cdc42 guanine nucleotide exchange factor 9",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/arhgef9"
      },
      {
        "slug": "clcn4",
        "symbol": "CLCN4",
        "name": "Cl-/H+ antiporter 4",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/clcn4"
      },
      {
        "slug": "cnksr2",
        "symbol": "CNKSR2",
        "name": "connector enhancer of kinase suppressor of Ras 2",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/cnksr2"
      },
      {
        "slug": "frmpd4",
        "symbol": "FRMPD4",
        "name": "FERM and PDZ domain containing 4",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/frmpd4"
      },
      {
        "slug": "ftsj1",
        "symbol": "FTSJ1",
        "name": "FtsJ RNA 2'-O-methyltransferase 1",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/ftsj1"
      },
      {
        "slug": "gria3",
        "symbol": "GRIA3",
        "name": "glutamate ionotropic receptor AMPA type subunit 3",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/gria3"
      },
      {
        "slug": "hnrnph2",
        "symbol": "HNRNPH2",
        "name": "heterogeneous nuclear ribonucleoprotein H2",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/hnrnph2"
      },
      {
        "slug": "il1rapl1",
        "symbol": "IL1RAPL1",
        "name": "interleukin 1 receptor accessory protein like 1",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/il1rapl1"
      },
      {
        "slug": "iqsec2",
        "symbol": "IQSEC2",
        "name": "IQ motif and Sec7 domain ArfGEF 2",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/iqsec2"
      },
      {
        "slug": "kdm5c",
        "symbol": "KDM5C",
        "name": "lysine demethylase 5C",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/kdm5c"
      },
      {
        "slug": "nexmif",
        "symbol": "NEXMIF",
        "name": "neurite extension and migration factor",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/nexmif"
      },
      {
        "slug": "pak3",
        "symbol": "PAK3",
        "name": "p21 (RAC1) activated kinase 3",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/pak3"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}