{
  "url": "https://dantelabs.com/cs/genes/sephs1",
  "gene": {
    "slug": "sephs1",
    "symbol": "SEPHS1",
    "name": "selenophosphate synthetase 1",
    "hgnc": "HGNC:19685",
    "summary": null,
    "location": "10p13",
    "locusType": "gene with protein product",
    "aliases": [
      "SPS",
      "SPS1"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000086475",
    "entrezId": 22929,
    "omim": [
      "600902"
    ],
    "uniprot": [
      "P49903"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "10",
      "start": 13317428,
      "end": 13348293,
      "strand": "-",
      "ensemblTranscript": "ENST00000327347.10",
      "refseqTranscript": "NM_012247.5",
      "ensemblProtein": "ENSP00000367893.3",
      "refseqProtein": "NP_036379.2",
      "exons": [
        {
          "start": 13317428,
          "end": 13319356
        },
        {
          "start": 13322835,
          "end": 13323047
        },
        {
          "start": 13328351,
          "end": 13328450
        },
        {
          "start": 13329698,
          "end": 13329788
        },
        {
          "start": 13333817,
          "end": 13333971
        },
        {
          "start": 13336243,
          "end": 13336350
        },
        {
          "start": 13338705,
          "end": 13338808
        },
        {
          "start": 13344758,
          "end": 13345028
        },
        {
          "start": 13348000,
          "end": 13348293
        }
      ],
      "cds": {
        "start": 13319142,
        "end": 13344950
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "10",
      "start": 13359424,
      "end": 13390297,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 12832861,
      "end": 13832860,
      "genes": [
        {
          "symbol": "CAMK1D",
          "ensemblId": "ENSG00000183049",
          "biotype": "protein_coding",
          "start": 12349513,
          "end": 12835545,
          "strand": "+",
          "slug": "camk1d"
        },
        {
          "symbol": "CCDC3",
          "ensemblId": "ENSG00000151468",
          "biotype": "protein_coding",
          "start": 12896625,
          "end": 13099652,
          "strand": "-",
          "slug": "ccdc3"
        },
        {
          "symbol": "OPTN",
          "ensemblId": "ENSG00000123240",
          "biotype": "protein_coding",
          "start": 13099442,
          "end": 13159480,
          "strand": "+",
          "slug": "optn"
        },
        {
          "symbol": "MCM10",
          "ensemblId": "ENSG00000065328",
          "biotype": "protein_coding",
          "start": 13161526,
          "end": 13211110,
          "strand": "+",
          "slug": "mcm10"
        },
        {
          "symbol": "UCMA",
          "ensemblId": "ENSG00000165623",
          "biotype": "protein_coding",
          "start": 13220609,
          "end": 13234428,
          "strand": "-",
          "slug": "ucma"
        },
        {
          "symbol": "PHYH",
          "ensemblId": "ENSG00000107537",
          "biotype": "protein_coding",
          "start": 13276854,
          "end": 13302412,
          "strand": "-",
          "slug": "phyh"
        },
        {
          "symbol": "BEND7",
          "ensemblId": "ENSG00000165626",
          "biotype": "protein_coding",
          "start": 13438484,
          "end": 13529287,
          "strand": "-",
          "slug": "bend7"
        },
        {
          "symbol": "PRPF18",
          "ensemblId": "ENSG00000165630",
          "biotype": "protein_coding",
          "start": 13586922,
          "end": 13668445,
          "strand": "+",
          "slug": "prpf18"
        },
        {
          "symbol": "FRMD4A",
          "ensemblId": "ENSG00000151474",
          "biotype": "protein_coding",
          "start": 13643706,
          "end": 14462142,
          "strand": "-",
          "slug": "frmd4a"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormality-of-the-philtrum",
        "name": "Abnormality of the philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-philtrum"
      },
      {
        "slug": "bifid-uvula",
        "name": "Bifid uvula",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bifid-uvula"
      },
      {
        "slug": "bulbous-nose",
        "name": "Bulbous nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bulbous-nose"
      },
      {
        "slug": "cupped-ear",
        "name": "Cupped ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cupped-ear"
      },
      {
        "slug": "thin-vermilion-border",
        "name": "Decreased volume of lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thin-vermilion-border"
      },
      {
        "slug": "deeply-set-eye",
        "name": "Deeply set eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/deeply-set-eye"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "entropion",
        "name": "Eyelid folded in",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/entropion"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "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": "postnatal-growth-retardation",
        "name": "Growth delay as children",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/postnatal-growth-retardation"
      },
      {
        "slug": "highly-arched-eyebrow",
        "name": "Highly arched eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/highly-arched-eyebrow"
      },
      {
        "slug": "hypoplastic-superior-helix",
        "name": "Hypoplastic superior helix",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplastic-superior-helix"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "long-eyelashes",
        "name": "Long eyelashes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/long-eyelashes"
      },
      {
        "slug": "low-hanging-columella",
        "name": "Low hanging columella",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/low-hanging-columella"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "preauricular-pit",
        "name": "Pit in front of the ear",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/preauricular-pit"
      },
      {
        "slug": "prominent-nasal-bridge",
        "name": "Prominent nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/prominent-nasal-bridge"
      },
      {
        "slug": "stahl-ear",
        "name": "Stahl ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/stahl-ear"
      },
      {
        "slug": "thick-eyebrow",
        "name": "Thick eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thick-eyebrow"
      },
      {
        "slug": "thickened-helices",
        "name": "Thickened helices",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thickened-helices"
      },
      {
        "slug": "ankyloglossia",
        "name": "Tongue tied",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ankyloglossia"
      },
      {
        "slug": "wide-nasal-bridge",
        "name": "Wide nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/wide-nasal-bridge"
      },
      {
        "slug": "widely-spaced-teeth",
        "name": "Widely spaced teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/widely-spaced-teeth"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}