{
  "url": "https://dantelabs.com/hu/genes/srsf1",
  "gene": {
    "slug": "srsf1",
    "symbol": "SRSF1",
    "name": "serine and arginine rich splicing factor 1",
    "hgnc": "HGNC:10780",
    "summary": null,
    "location": "17q22",
    "locusType": "gene with protein product",
    "aliases": [
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      "SF2",
      "SRp30a",
      "SF2p33",
      "MGC5228"
    ],
    "previousSymbols": [
      "SFRS1"
    ],
    "ensemblId": "ENSG00000136450",
    "entrezId": 6426,
    "omim": [
      "600812"
    ],
    "uniprot": [
      "Q07955"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "17",
      "start": 58000919,
      "end": 58007246,
      "strand": "-",
      "ensemblTranscript": "ENST00000258962.5",
      "refseqTranscript": "NM_006924.5",
      "ensemblProtein": "ENSP00000258962.4",
      "refseqProtein": "NP_008855.1",
      "exons": [
        {
          "start": 58000919,
          "end": 58005600
        },
        {
          "start": 58005801,
          "end": 58005973
        },
        {
          "start": 58006343,
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        {
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        }
      ],
      "cds": {
        "start": 58005406,
        "end": 58007137
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "17",
      "start": 56080721,
      "end": 56084707,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 57504083,
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      "genes": [
        {
          "symbol": "MSI2",
          "ensemblId": "ENSG00000153944",
          "biotype": "protein_coding",
          "start": 57255851,
          "end": 57684689,
          "strand": "+",
          "slug": "msi2"
        },
        {
          "symbol": "CCDC182",
          "ensemblId": "ENSG00000166329",
          "biotype": "protein_coding",
          "start": 57744495,
          "end": 57745299,
          "strand": "-",
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        },
        {
          "symbol": "MRPS23",
          "ensemblId": "ENSG00000181610",
          "biotype": "protein_coding",
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          "end": 57850076,
          "strand": "-",
          "slug": "mrps23"
        },
        {
          "symbol": "CUEDC1",
          "ensemblId": "ENSG00000180891",
          "biotype": "protein_coding",
          "start": 57861231,
          "end": 57955851,
          "strand": "-",
          "slug": "cuedc1"
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        {
          "symbol": "VEZF1",
          "ensemblId": "ENSG00000136451",
          "biotype": "protein_coding",
          "start": 57971547,
          "end": 57988389,
          "strand": "-",
          "slug": "vezf1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000266086",
          "biotype": "protein_coding",
          "start": 57989038,
          "end": 58007246,
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        },
        {
          "symbol": "DYNLL2",
          "ensemblId": "ENSG00000264364",
          "biotype": "protein_coding",
          "start": 58082825,
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          "strand": "+",
          "slug": "dynll2"
        },
        {
          "symbol": "OR4D1",
          "ensemblId": "ENSG00000141194",
          "biotype": "protein_coding",
          "start": 58148384,
          "end": 58159585,
          "strand": "+",
          "slug": "or4d1"
        },
        {
          "symbol": "OR4D2",
          "ensemblId": "ENSG00000255713",
          "biotype": "protein_coding",
          "start": 58166982,
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          "strand": "+",
          "slug": "or4d2"
        },
        {
          "symbol": "EPX",
          "ensemblId": "ENSG00000121053",
          "biotype": "protein_coding",
          "start": 58192726,
          "end": 58205174,
          "strand": "+",
          "slug": "epx"
        },
        {
          "symbol": "MKS1",
          "ensemblId": "ENSG00000011143",
          "biotype": "protein_coding",
          "start": 58205350,
          "end": 58219605,
          "strand": "-",
          "slug": "mks1"
        },
        {
          "symbol": "LPO",
          "ensemblId": "ENSG00000167419",
          "biotype": "protein_coding",
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          "end": 58268518,
          "strand": "+",
          "slug": "lpo"
        },
        {
          "symbol": "MPO",
          "ensemblId": "ENSG00000005381",
          "biotype": "protein_coding",
          "start": 58269855,
          "end": 58280935,
          "strand": "-",
          "slug": "mpo"
        },
        {
          "symbol": "TSPOAP1",
          "ensemblId": "ENSG00000005379",
          "biotype": "protein_coding",
          "start": 58301228,
          "end": 58328823,
          "strand": "-",
          "slug": "tspoap1"
        },
        {
          "symbol": "SUPT4H1",
          "ensemblId": "ENSG00000213246",
          "biotype": "protein_coding",
          "start": 58345175,
          "end": 58353099,
          "strand": "-",
          "slug": "supt4h1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000285897",
          "biotype": "protein_coding",
          "start": 58345206,
          "end": 58417595,
          "strand": "-"
        },
        {
          "symbol": "RNF43",
          "ensemblId": "ENSG00000108375",
          "biotype": "protein_coding",
          "start": 58353671,
          "end": 58417735,
          "strand": "-",
          "slug": "rnf43"
        },
        {
          "symbol": "HSF5",
          "ensemblId": "ENSG00000176160",
          "biotype": "protein_coding",
          "start": 58420167,
          "end": 58488408,
          "strand": "-",
          "slug": "hsf5"
        },
        {
          "symbol": "MTMR4",
          "ensemblId": "ENSG00000108389",
          "biotype": "protein_coding",
          "start": 58489529,
          "end": 58517905,
          "strand": "-",
          "slug": "mtmr4"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "aberrant-right-subclavian-artery",
        "name": "Aberrant right subclavian artery",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/aberrant-right-subclavian-artery"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "secondary-microcephaly",
        "name": "Development of small head that was not present at birth",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/secondary-microcephaly"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "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": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "hernia",
        "name": "Hernia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hernia"
      },
      {
        "slug": "ventricular-septal-defect",
        "name": "Hole in heart wall separating two lower heart chambers",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ventricular-septal-defect"
      },
      {
        "slug": "kyphosis",
        "name": "Hunched back",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/kyphosis"
      },
      {
        "slug": "increased-nuchal-translucency",
        "name": "Increased nuchal translucency",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-nuchal-translucency"
      },
      {
        "slug": "genu-valgum",
        "name": "Knock knees",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/genu-valgum"
      },
      {
        "slug": "decreased-fetal-movement",
        "name": "Less than 10 fetal movements in 12 hours",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-fetal-movement"
      },
      {
        "slug": "arachnodactyly",
        "name": "Long slender fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/arachnodactyly"
      },
      {
        "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": "frequent",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "genu-varum",
        "name": "Outward bow-leggedness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/genu-varum"
      },
      {
        "slug": "poor-suck",
        "name": "Poor suck",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/poor-suck"
      },
      {
        "slug": "pulmonary-hypoplasia",
        "name": "Poorly developed lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pulmonary-hypoplasia"
      },
      {
        "slug": "postaxial-polydactyly",
        "name": "Postaxial polydactyly",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/postaxial-polydactyly"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "right-aortic-arch",
        "name": "Right aortic arch",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/right-aortic-arch"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "specific-learning-disability",
        "name": "Specific learning disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/specific-learning-disability"
      },
      {
        "slug": "truncal-obesity",
        "name": "Truncal obesity",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/truncal-obesity"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/visual-impairment"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}