{
  "url": "https://dantelabs.com/fi/genes/snrpe",
  "gene": {
    "slug": "snrpe",
    "symbol": "SNRPE",
    "name": "small nuclear ribonucleoprotein polypeptide E",
    "hgnc": "HGNC:11161",
    "summary": null,
    "location": "1q32.1",
    "locusType": "gene with protein product",
    "aliases": [
      "Sm-E"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000182004",
    "entrezId": 6635,
    "omim": [
      "128260"
    ],
    "uniprot": [
      "P62304"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 203861599,
      "end": 203871152,
      "strand": "+",
      "ensemblTranscript": "ENST00000414487.7",
      "refseqTranscript": "NM_003094.4",
      "ensemblProtein": "ENSP00000400591.2",
      "refseqProtein": "NP_003085.1",
      "exons": [
        {
          "start": 203861599,
          "end": 203861713
        },
        {
          "start": 203862196,
          "end": 203862222
        },
        {
          "start": 203863663,
          "end": 203863725
        },
        {
          "start": 203865041,
          "end": 203865119
        },
        {
          "start": 203869877,
          "end": 203871152
        }
      ],
      "cds": {
        "start": 203861660,
        "end": 203869932
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 203830731,
      "end": 203839678,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 203366376,
      "end": 204366375,
      "genes": [
        {
          "symbol": "PRELP",
          "ensemblId": "ENSG00000188783",
          "biotype": "protein_coding",
          "start": 203475760,
          "end": 203491352,
          "strand": "+",
          "slug": "prelp"
        },
        {
          "symbol": "OPTC",
          "ensemblId": "ENSG00000188770",
          "biotype": "protein_coding",
          "start": 203494118,
          "end": 203509238,
          "strand": "+",
          "slug": "optc"
        },
        {
          "symbol": "ATP2B4",
          "ensemblId": "ENSG00000058668",
          "biotype": "protein_coding",
          "start": 203626664,
          "end": 203744081,
          "strand": "+",
          "slug": "atp2b4"
        },
        {
          "symbol": "LAX1",
          "ensemblId": "ENSG00000122188",
          "biotype": "protein_coding",
          "start": 203765169,
          "end": 203778175,
          "strand": "+",
          "slug": "lax1"
        },
        {
          "symbol": "ZC3H11A",
          "ensemblId": "ENSG00000058673",
          "biotype": "protein_coding",
          "start": 203795562,
          "end": 203854999,
          "strand": "+",
          "slug": "zc3h11a"
        },
        {
          "symbol": "ZBED6",
          "ensemblId": "ENSG00000257315",
          "biotype": "protein_coding",
          "start": 203795623,
          "end": 203854999,
          "strand": "+",
          "slug": "zbed6"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000288644",
          "biotype": "protein_coding",
          "start": 203802094,
          "end": 203802192,
          "strand": "+"
        },
        {
          "symbol": "SOX13",
          "ensemblId": "ENSG00000143842",
          "biotype": "protein_coding",
          "start": 204073106,
          "end": 204127744,
          "strand": "+",
          "slug": "sox13"
        },
        {
          "symbol": "ETNK2",
          "ensemblId": "ENSG00000143845",
          "biotype": "protein_coding",
          "start": 204131062,
          "end": 204152184,
          "strand": "-",
          "slug": "etnk2"
        },
        {
          "symbol": "REN",
          "ensemblId": "ENSG00000143839",
          "biotype": "protein_coding",
          "start": 204154815,
          "end": 204190324,
          "strand": "-",
          "slug": "ren"
        },
        {
          "symbol": "KISS1",
          "ensemblId": "ENSG00000170498",
          "biotype": "protein_coding",
          "start": 204190337,
          "end": 204196638,
          "strand": "-",
          "slug": "kiss1"
        },
        {
          "symbol": "GOLT1A",
          "ensemblId": "ENSG00000174567",
          "biotype": "protein_coding",
          "start": 204198157,
          "end": 204214121,
          "strand": "-",
          "slug": "golt1a"
        },
        {
          "symbol": "PLEKHA6",
          "ensemblId": "ENSG00000143850",
          "biotype": "protein_coding",
          "start": 204218851,
          "end": 204378391,
          "strand": "-",
          "slug": "plekha6"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-hypotrichosis-and-hair-shaft-disorders",
        "name": "Perinnöllinen hypotrichosis, villatukka ja monilethrix",
        "diseases": [
          {
            "mondoId": "MONDO:0003037",
            "name": "Perinnöllinen hypotrichosis",
            "genes": 11,
            "inheritance": null,
            "description": "Harvat tai puuttuvat pään ja vartalon karvat lapsuudesta alkaen, mukaan lukien LIPH- ja LPAR6-geeneihin liittyvät muodot.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/hereditary-hypotrichosis-and-hair-shaft-disorders"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "absent-axillary-hair",
        "name": "Absent axillary hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/absent-axillary-hair"
      },
      {
        "slug": "alopecia-universalis",
        "name": "Alopecia universalis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/alopecia-universalis"
      },
      {
        "slug": "alopecia",
        "name": "Hair loss",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/alopecia"
      },
      {
        "slug": "sparse-body-hair",
        "name": "Sparse body hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sparse-body-hair"
      },
      {
        "slug": "sparse-eyebrow",
        "name": "Sparse eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sparse-eyebrow"
      },
      {
        "slug": "sparse-eyelashes",
        "name": "Sparse eyelashes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sparse-eyelashes"
      },
      {
        "slug": "sparse-hair",
        "name": "Sparse hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sparse-hair"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-eyebrow",
        "name": "Sparse or absent eyebrows",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-eyebrow"
      },
      {
        "slug": "sparse-or-absent-eyelashes",
        "name": "Sparse or absent eyelashes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/sparse-or-absent-eyelashes"
      },
      {
        "slug": "sparse-scalp-hair",
        "name": "Sparse scalp hair",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sparse-scalp-hair"
      }
    ],
    "related": [
      {
        "slug": "apcdd1",
        "symbol": "APCDD1",
        "name": "APC down-regulated 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/apcdd1"
      },
      {
        "slug": "c3orf52",
        "symbol": "C3orf52",
        "name": "chromosome 3 open reading frame 52",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/c3orf52"
      },
      {
        "slug": "cdh3",
        "symbol": "CDH3",
        "name": "cadherin 3",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/cdh3"
      },
      {
        "slug": "cdsn",
        "symbol": "CDSN",
        "name": "corneodesmosin",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/cdsn"
      },
      {
        "slug": "dsg4",
        "symbol": "DSG4",
        "name": "desmoglein 4",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/dsg4"
      },
      {
        "slug": "hr",
        "symbol": "HR",
        "name": "HR lysine demethylase and nuclear receptor corepressor",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/hr"
      },
      {
        "slug": "liph",
        "symbol": "LIPH",
        "name": "lipase H",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/liph"
      },
      {
        "slug": "lpar6",
        "symbol": "LPAR6",
        "name": "lysophosphatidic acid receptor 6",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/lpar6"
      },
      {
        "slug": "lss",
        "symbol": "LSS",
        "name": "lanosterol synthase",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/lss"
      },
      {
        "slug": "rpl21",
        "symbol": "RPL21",
        "name": "ribosomal protein L21",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/rpl21"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}