{
  "url": "https://dantelabs.com/tr/genes/exosc1",
  "gene": {
    "slug": "exosc1",
    "symbol": "EXOSC1",
    "name": "exosome component 1",
    "hgnc": "HGNC:17286",
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    "location": "10q24.1",
    "locusType": "gene with protein product",
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      "Csl4p",
      "CSL4",
      "Ski4p",
      "SKI4",
      "CGI-108",
      "p13"
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    "previousSymbols": [],
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    "entrezId": 51013,
    "omim": [
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      "Q9Y3B2"
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      "release": "v1.5",
      "chrom": "10",
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      "strand": "-",
      "ensemblTranscript": "ENST00000370902.8",
      "refseqTranscript": "NM_016046.5",
      "ensemblProtein": "ENSP00000359939.3",
      "refseqProtein": "NP_057130.1",
      "exons": [
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    },
    "grch37": {
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      "release": "87",
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      "strand": "-"
    },
    "neighbourhood": {
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          "ensemblId": "ENSG00000196233",
          "biotype": "protein_coding",
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          "strand": "+",
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        },
        {
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          "strand": "-",
          "slug": "slit1"
        },
        {
          "symbol": "ARHGAP19-SLIT1",
          "ensemblId": "ENSG00000269891",
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          "slug": "arhgap19-slit1"
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        {
          "symbol": "ARHGAP19",
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        {
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        {
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        {
          "symbol": "RRP12",
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        {
          "symbol": "PGAM1",
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          "biotype": "protein_coding",
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        {
          "symbol": "ZDHHC16",
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        {
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        {
          "symbol": "UBTD1",
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        {
          "symbol": "ANKRD2",
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        {
          "symbol": "HOGA1",
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        {
          "symbol": "",
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        },
        {
          "symbol": "C10orf62",
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        {
          "symbol": "MORN4",
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        {
          "symbol": "PI4K2A",
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        {
          "symbol": "AVPI1",
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        {
          "symbol": "MARVELD1",
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          "biotype": "protein_coding",
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          "strand": "+",
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        },
        {
          "symbol": "ZFYVE27",
          "ensemblId": "ENSG00000155256",
          "biotype": "protein_coding",
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        },
        {
          "symbol": "SFRP5",
          "ensemblId": "ENSG00000120057",
          "biotype": "protein_coding",
          "start": 97766751,
          "end": 97772287,
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        },
        {
          "symbol": "GOLGA7B",
          "ensemblId": "ENSG00000155265",
          "biotype": "protein_coding",
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        },
        {
          "symbol": "CRTAC1",
          "ensemblId": "ENSG00000095713",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "crtac1"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "blue-sclerae",
        "name": "Blue outer white part of eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/blue-sclerae"
      },
      {
        "slug": "telecanthus",
        "name": "Corners of eye widely separated",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/telecanthus"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "delayed-cns-myelination",
        "name": "Delayed CNS myelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-cns-myelination"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "thick-vermilion-border",
        "name": "Full lips",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thick-vermilion-border"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "high-forehead",
        "name": "High forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/high-forehead"
      },
      {
        "slug": "hypoplasia-of-the-pons",
        "name": "Hypoplasia of the pons",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-pons"
      },
      {
        "slug": "long-philtrum",
        "name": "Long philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/long-philtrum"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "anteverted-nares",
        "name": "Nasal tip, upturned",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/anteverted-nares"
      },
      {
        "slug": "retrognathia",
        "name": "Receding chin",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/retrognathia"
      },
      {
        "slug": "cerebellar-hypoplasia",
        "name": "Small cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-hypoplasia"
      },
      {
        "slug": "smooth-philtrum",
        "name": "Smooth philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/smooth-philtrum"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}