{
  "url": "https://dantelabs.com/lt/genes/polr3gl",
  "gene": {
    "slug": "polr3gl",
    "symbol": "POLR3GL",
    "name": "RNA polymerase III subunit GL",
    "hgnc": "HGNC:28466",
    "summary": null,
    "location": "1q21.1",
    "locusType": "gene with protein product",
    "aliases": [
      "flj32422",
      "MGC3200"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000121851",
    "entrezId": 84265,
    "omim": [
      "617457"
    ],
    "uniprot": [
      "Q9BT43"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 145964690,
      "end": 145978848,
      "strand": "+",
      "ensemblTranscript": "ENST00000369314.2",
      "refseqTranscript": "NM_032305.3",
      "ensemblProtein": "ENSP00000358320.1",
      "refseqProtein": "NP_115681.1",
      "exons": [
        {
          "start": 145964690,
          "end": 145964768
        },
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          "start": 145974825,
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        },
        {
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        }
      ],
      "cds": {
        "start": 145974866,
        "end": 145978447
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 145456236,
      "end": 145470388,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 145471769,
      "end": 146471768,
      "genes": [
        {
          "symbol": "GPHRA",
          "ensemblId": "ENSG00000117262",
          "biotype": "protein_coding",
          "start": 145607975,
          "end": 145671421,
          "strand": "+",
          "slug": "gphra"
        },
        {
          "symbol": "PDZK1",
          "ensemblId": "ENSG00000174827",
          "biotype": "protein_coding",
          "start": 145670848,
          "end": 145721615,
          "strand": "-",
          "slug": "pdzk1"
        },
        {
          "symbol": "CD160",
          "ensemblId": "ENSG00000117281",
          "biotype": "protein_coding",
          "start": 145719443,
          "end": 145740760,
          "strand": "+",
          "slug": "cd160"
        },
        {
          "symbol": "RNF115",
          "ensemblId": "ENSG00000265491",
          "biotype": "protein_coding",
          "start": 145738868,
          "end": 145824134,
          "strand": "-",
          "slug": "rnf115"
        },
        {
          "symbol": "POLR3C",
          "ensemblId": "ENSG00000186141",
          "biotype": "protein_coding",
          "start": 145823776,
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          "strand": "+",
          "slug": "polr3c"
        },
        {
          "symbol": "NUDT17",
          "ensemblId": "ENSG00000186364",
          "biotype": "protein_coding",
          "start": 145845603,
          "end": 145848954,
          "strand": "+",
          "slug": "nudt17"
        },
        {
          "symbol": "PIAS3",
          "ensemblId": "ENSG00000131788",
          "biotype": "protein_coding",
          "start": 145848521,
          "end": 145859836,
          "strand": "-",
          "slug": "pias3"
        },
        {
          "symbol": "ANKRD35",
          "ensemblId": "ENSG00000198483",
          "biotype": "protein_coding",
          "start": 145865390,
          "end": 145886088,
          "strand": "-",
          "slug": "ankrd35"
        },
        {
          "symbol": "ITGA10",
          "ensemblId": "ENSG00000143127",
          "biotype": "protein_coding",
          "start": 145891206,
          "end": 145910111,
          "strand": "-",
          "slug": "itga10"
        },
        {
          "symbol": "PEX11B",
          "ensemblId": "ENSG00000131779",
          "biotype": "protein_coding",
          "start": 145911348,
          "end": 145918747,
          "strand": "-",
          "slug": "pex11b"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000289565",
          "biotype": "protein_coding",
          "start": 145917714,
          "end": 145926741,
          "strand": "-"
        },
        {
          "symbol": "RBM8A",
          "ensemblId": "ENSG00000265241",
          "biotype": "protein_coding",
          "start": 145920935,
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          "strand": "-",
          "slug": "rbm8a"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000280778",
          "biotype": "protein_coding",
          "start": 145927258,
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          "strand": "+"
        },
        {
          "symbol": "LIX1L",
          "ensemblId": "ENSG00000271601",
          "biotype": "protein_coding",
          "start": 145933423,
          "end": 145958055,
          "strand": "-",
          "slug": "lix1l"
        },
        {
          "symbol": "ANKRD34A",
          "ensemblId": "ENSG00000272031",
          "biotype": "protein_coding",
          "start": 145959441,
          "end": 145964575,
          "strand": "-",
          "slug": "ankrd34a"
        },
        {
          "symbol": "TXNIP",
          "ensemblId": "ENSG00000265972",
          "biotype": "protein_coding",
          "start": 145992435,
          "end": 145996580,
          "strand": "-",
          "slug": "txnip"
        },
        {
          "symbol": "HJV",
          "ensemblId": "ENSG00000168509",
          "biotype": "protein_coding",
          "start": 146017468,
          "end": 146036746,
          "strand": "-",
          "slug": "hjv"
        },
        {
          "symbol": "NBPF10",
          "ensemblId": "ENSG00000271425",
          "biotype": "protein_coding",
          "start": 146064711,
          "end": 146229000,
          "strand": "-",
          "slug": "nbpf10"
        },
        {
          "symbol": "NOTCH2NLA",
          "ensemblId": "ENSG00000264343",
          "biotype": "protein_coding",
          "start": 146145524,
          "end": 146229073,
          "strand": "-",
          "slug": "notch2nla"
        },
        {
          "symbol": "PPIAL4H",
          "ensemblId": "ENSG00000270339",
          "biotype": "protein_coding",
          "start": 146344006,
          "end": 146344765,
          "strand": "-",
          "slug": "ppial4h"
        }
      ],
      "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": "frequent",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "astigmatism",
        "name": "Astigmatism",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/astigmatism"
      },
      {
        "slug": "back-pain",
        "name": "Back pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/back-pain"
      },
      {
        "slug": "bilateral-camptodactyly",
        "name": "Bilateral camptodactyly",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bilateral-camptodactyly"
      },
      {
        "slug": "proptosis",
        "name": "Bulging eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/proptosis"
      },
      {
        "slug": "cerebral-visual-impairment",
        "name": "Cerebral visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebral-visual-impairment"
      },
      {
        "slug": "talipes-equinovarus",
        "name": "Club feet",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/talipes-equinovarus"
      },
      {
        "slug": "decreased-response-to-growth-hormone-stimulation-test",
        "name": "Decreased response to growth hormone stimulation test",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-response-to-growth-hormone-stimulation-test"
      },
      {
        "slug": "delayed-puberty",
        "name": "Delayed puberty",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-puberty"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "joint-hypermobility",
        "name": "Double-Jointed",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/joint-hypermobility"
      },
      {
        "slug": "lumbar-hyperlordosis",
        "name": "Excessive inward curvature of lower spine",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lumbar-hyperlordosis"
      },
      {
        "slug": "oligodontia",
        "name": "Failure of development of more than six teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/oligodontia"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "recurrent-urinary-tract-infections",
        "name": "Frequent urinary tract infections",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-urinary-tract-infections"
      },
      {
        "slug": "toe-syndactyly",
        "name": "Fused toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/toe-syndactyly"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "amblyopia",
        "name": "Lazy eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/amblyopia"
      },
      {
        "slug": "long-hallux",
        "name": "Long big toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/long-hallux"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "motor-regression",
        "name": "Motor regression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/motor-regression"
      },
      {
        "slug": "posterior-subcapsular-cataract",
        "name": "Posterior subcapsular cataract",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/posterior-subcapsular-cataract"
      },
      {
        "slug": "progressive-hearing-impairment",
        "name": "Progressive hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/progressive-hearing-impairment"
      },
      {
        "slug": "proximal-muscle-weakness",
        "name": "Proximal neurogenic muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/proximal-muscle-weakness"
      },
      {
        "slug": "lumbar-kyphosis",
        "name": "Rounded lower back",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lumbar-kyphosis"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "smooth-philtrum",
        "name": "Smooth philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/smooth-philtrum"
      },
      {
        "slug": "spastic-paraparesis",
        "name": "Spastic paraparesis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spastic-paraparesis"
      },
      {
        "slug": "umbilical-hernia",
        "name": "Umbilical hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/umbilical-hernia"
      },
      {
        "slug": "hypothyroidism",
        "name": "Underactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypothyroidism"
      },
      {
        "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"
      },
      {
        "slug": "upslanted-palpebral-fissure",
        "name": "Upward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/upslanted-palpebral-fissure"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}