{
  "url": "https://dantelabs.com/fr/genes/rsrc1",
  "gene": {
    "slug": "rsrc1",
    "symbol": "RSRC1",
    "name": "arginine and serine rich coiled-coil 1",
    "hgnc": "HGNC:24152",
    "summary": null,
    "location": "3q25.32",
    "locusType": "gene with protein product",
    "aliases": [
      "MGC12197",
      "BM-011",
      "SRrp53",
      "SFRS21"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000174891",
    "entrezId": 51319,
    "omim": [
      "613352"
    ],
    "uniprot": [
      "Q96IZ7"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "3",
      "start": 158110089,
      "end": 158545730,
      "strand": "+",
      "ensemblTranscript": "ENST00000611884.5",
      "refseqTranscript": "NM_001271838.2",
      "ensemblProtein": "ENSP00000481697.1",
      "refseqProtein": "NP_001258767.1",
      "exons": [
        {
          "start": 158110089,
          "end": 158110223
        },
        {
          "start": 158122103,
          "end": 158122298
        },
        {
          "start": 158123866,
          "end": 158123991
        },
        {
          "start": 158203072,
          "end": 158203245
        },
        {
          "start": 158298039,
          "end": 158298075
        },
        {
          "start": 158354857,
          "end": 158354908
        },
        {
          "start": 158460935,
          "end": 158461003
        },
        {
          "start": 158537092,
          "end": 158537198
        },
        {
          "start": 158543335,
          "end": 158543487
        },
        {
          "start": 158544183,
          "end": 158545730
        }
      ],
      "cds": {
        "start": 158122105,
        "end": 158544275
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "3",
      "start": 157823644,
      "end": 158263519,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 157674447,
      "end": 158981372,
      "genes": [
        {
          "symbol": "SHOX2",
          "ensemblId": "ENSG00000168779",
          "biotype": "protein_coding",
          "start": 158095905,
          "end": 158106420,
          "strand": "-",
          "slug": "shox2"
        },
        {
          "symbol": "MLF1",
          "ensemblId": "ENSG00000178053",
          "biotype": "protein_coding",
          "start": 158571151,
          "end": 158607255,
          "strand": "+",
          "slug": "mlf1"
        },
        {
          "symbol": "LXN",
          "ensemblId": "ENSG00000079257",
          "biotype": "protein_coding",
          "start": 158591891,
          "end": 158672732,
          "strand": "-",
          "slug": "lxn"
        },
        {
          "symbol": "GFM1",
          "ensemblId": "ENSG00000168827",
          "biotype": "protein_coding",
          "start": 158644516,
          "end": 158695836,
          "strand": "+",
          "slug": "gfm1"
        },
        {
          "symbol": "RARRES1",
          "ensemblId": "ENSG00000118849",
          "biotype": "protein_coding",
          "start": 158689042,
          "end": 158732802,
          "strand": "-",
          "slug": "rarres1"
        },
        {
          "symbol": "MFSD1",
          "ensemblId": "ENSG00000118855",
          "biotype": "protein_coding",
          "start": 158732198,
          "end": 158885089,
          "strand": "+",
          "slug": "mfsd1"
        },
        {
          "symbol": "IQCJ-SCHIP1",
          "ensemblId": "ENSG00000283154",
          "biotype": "protein_coding",
          "start": 158962235,
          "end": 159897358,
          "strand": "+",
          "slug": "iqcj-schip1"
        },
        {
          "symbol": "IQCJ",
          "ensemblId": "ENSG00000214216",
          "biotype": "protein_coding",
          "start": 158962928,
          "end": 159266307,
          "strand": "+",
          "slug": "iqcj"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "intellectual-disability",
        "name": "Déficience intellectuelle",
        "diseases": [
          {
            "mondoId": "MONDO:0001071",
            "name": "déficience intellectuelle",
            "genes": 233,
            "inheritance": null,
            "description": null,
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/intellectual-disability"
      }
    ],
    "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": "occasional",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "attention-deficit-hyperactivity-disorder",
        "name": "Attention deficit",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/attention-deficit-hyperactivity-disorder"
      },
      {
        "slug": "autistic-behavior",
        "name": "Autism spectrum disorder",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/autistic-behavior"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "drooling",
        "name": "Drooling",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/drooling"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "febrile-seizure-within-the-age-range-of-3-months-to-6-years",
        "name": "Febrile seizure (within the age range of 3 months to 6 years)",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/febrile-seizure-within-the-age-range-of-3-months-to-6-years"
      },
      {
        "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": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "urinary-incontinence",
        "name": "Loss of bladder control",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/urinary-incontinence"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "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": "retrognathia",
        "name": "Receding chin",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/retrognathia"
      },
      {
        "slug": "severe-temper-tantrums",
        "name": "Severe temper tantrums",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severe-temper-tantrums"
      },
      {
        "slug": "wide-nasal-bridge",
        "name": "Wide nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/wide-nasal-bridge"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [
      {
        "slug": "acsl4",
        "symbol": "ACSL4",
        "name": "acyl-CoA synthetase long chain family member 4",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/acsl4"
      },
      {
        "slug": "adk",
        "symbol": "ADK",
        "name": "adenosine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/adk"
      },
      {
        "slug": "adnp",
        "symbol": "ADNP",
        "name": "activity dependent neuroprotector homeobox",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/adnp"
      },
      {
        "slug": "aff2",
        "symbol": "AFF2",
        "name": "ALF transcription elongation factor 2",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/aff2"
      },
      {
        "slug": "ahdc1",
        "symbol": "AHDC1",
        "name": "AT-hook DNA binding motif containing 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/ahdc1"
      },
      {
        "slug": "alkbh8",
        "symbol": "ALKBH8",
        "name": "alkB homolog 8, tRNA methyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/alkbh8"
      },
      {
        "slug": "ank3",
        "symbol": "ANK3",
        "name": "ankyrin 3",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/ank3"
      },
      {
        "slug": "ankrd11",
        "symbol": "ANKRD11",
        "name": "ankyrin repeat domain 11",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/ankrd11"
      },
      {
        "slug": "ap1s2",
        "symbol": "AP1S2",
        "name": "adaptor related protein complex 1 subunit sigma 2",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/ap1s2"
      },
      {
        "slug": "ap2m1",
        "symbol": "AP2M1",
        "name": "adaptor related protein complex 2 subunit mu 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/ap2m1"
      },
      {
        "slug": "arhgef9",
        "symbol": "ARHGEF9",
        "name": "Cdc42 guanine nucleotide exchange factor 9",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/arhgef9"
      },
      {
        "slug": "arid1a",
        "symbol": "ARID1A",
        "name": "AT-rich interaction domain 1A",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/arid1a"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}