{
  "url": "https://dantelabs.com/genes/rpsa",
  "gene": {
    "slug": "rpsa",
    "symbol": "RPSA",
    "name": "ribosomal protein SA",
    "hgnc": "HGNC:6502",
    "summary": null,
    "location": "3p22.1",
    "locusType": "gene with protein product",
    "aliases": [
      "LRP",
      "37LRP",
      "p40",
      "SA",
      "uS2"
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    "previousSymbols": [
      "LAMR1"
    ],
    "ensemblId": "ENSG00000168028",
    "entrezId": 3921,
    "omim": [
      "150370"
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    "uniprot": [
      "P08865"
    ],
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      "release": "v1.5",
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      "strand": "+",
      "ensemblTranscript": "ENST00000301821.11",
      "refseqTranscript": "NM_002295.6",
      "ensemblProtein": "ENSP00000346067.4",
      "refseqProtein": "NP_002286.2",
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        {
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        },
        {
          "start": 39407621,
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        {
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        {
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        {
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        {
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        {
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      ],
      "cds": {
        "start": 39407654,
        "end": 39412368
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "3",
      "start": 39448180,
      "end": 39454033,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
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      "genes": [
        {
          "symbol": "SCN11A",
          "ensemblId": "ENSG00000168356",
          "biotype": "protein_coding",
          "start": 38845758,
          "end": 39052157,
          "strand": "-",
          "slug": "scn11a"
        },
        {
          "symbol": "WDR48",
          "ensemblId": "ENSG00000114742",
          "biotype": "protein_coding",
          "start": 39051991,
          "end": 39096671,
          "strand": "+",
          "slug": "wdr48"
        },
        {
          "symbol": "GORASP1",
          "ensemblId": "ENSG00000114745",
          "biotype": "protein_coding",
          "start": 39095222,
          "end": 39108369,
          "strand": "-",
          "slug": "gorasp1"
        },
        {
          "symbol": "TTC21A",
          "ensemblId": "ENSG00000168026",
          "biotype": "protein_coding",
          "start": 39107194,
          "end": 39140973,
          "strand": "+",
          "slug": "ttc21a"
        },
        {
          "symbol": "CSRNP1",
          "ensemblId": "ENSG00000144655",
          "biotype": "protein_coding",
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          "end": 39154852,
          "strand": "-",
          "slug": "csrnp1"
        },
        {
          "symbol": "XIRP1",
          "ensemblId": "ENSG00000168334",
          "biotype": "protein_coding",
          "start": 39183210,
          "end": 39192660,
          "strand": "-",
          "slug": "xirp1"
        },
        {
          "symbol": "CX3CR1",
          "ensemblId": "ENSG00000168329",
          "biotype": "protein_coding",
          "start": 39263495,
          "end": 39281735,
          "strand": "-",
          "slug": "cx3cr1"
        },
        {
          "symbol": "CCR8",
          "ensemblId": "ENSG00000179934",
          "biotype": "protein_coding",
          "start": 39329709,
          "end": 39336269,
          "strand": "+",
          "slug": "ccr8"
        },
        {
          "symbol": "SLC25A38",
          "ensemblId": "ENSG00000144659",
          "biotype": "protein_coding",
          "start": 39383292,
          "end": 39397426,
          "strand": "+",
          "slug": "slc25a38"
        },
        {
          "symbol": "MOBP",
          "ensemblId": "ENSG00000168314",
          "biotype": "protein_coding",
          "start": 39467172,
          "end": 39529479,
          "strand": "+",
          "slug": "mobp"
        },
        {
          "symbol": "MYRIP",
          "ensemblId": "ENSG00000170011",
          "biotype": "protein_coding",
          "start": 39808914,
          "end": 40260321,
          "strand": "+",
          "slug": "myrip"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "familial-isolated-congenital-asplenia",
        "name": "Familial Isolated Congenital Asplenia",
        "diseases": [
          {
            "mondoId": "MONDO:0010066",
            "name": "Familial isolated congenital asplenia",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "Absence of the spleen from birth, without other malformations, that greatly increases the risk of serious pneumococcal and other bacterial infections.",
            "management": "An ultrasound can confirm the absence of a spleen, and vaccination and preventive antibiotics reduce the risk of severe infection.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/conditions/familial-isolated-congenital-asplenia"
      },
      {
        "slug": "immunodeficiency-disease",
        "name": "Other Inborn Errors of Immunity",
        "diseases": [
          {
            "mondoId": "MONDO:0003778",
            "name": "Inborn error of immunity",
            "genes": 114,
            "inheritance": null,
            "description": "Inherited disorders of the immune system caused by changes in single genes, affecting how the body fights infection or regulates inflammation.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/conditions/immunodeficiency-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "asplenia",
        "name": "Absent spleen",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/asplenia"
      },
      {
        "slug": "howell-jolly-bodies",
        "name": "Howell-Jolly bodies",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/howell-jolly-bodies"
      },
      {
        "slug": "thrombocytosis",
        "name": "Increased number of platelets in blood",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thrombocytosis"
      }
    ],
    "related": [
      {
        "slug": "adar",
        "symbol": "ADAR",
        "name": "adenosine deaminase RNA specific",
        "shared": 1,
        "url": "https://dantelabs.com/genes/adar"
      },
      {
        "slug": "aicda",
        "symbol": "AICDA",
        "name": "activation induced cytidine deaminase",
        "shared": 1,
        "url": "https://dantelabs.com/genes/aicda"
      },
      {
        "slug": "ap3b1",
        "symbol": "AP3B1",
        "name": "adaptor related protein complex 3 subunit beta 1",
        "shared": 1,
        "url": "https://dantelabs.com/genes/ap3b1"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/genes/atp6ap1"
      },
      {
        "slug": "bcl10",
        "symbol": "BCL10",
        "name": "BCL10 immune signaling adaptor",
        "shared": 1,
        "url": "https://dantelabs.com/genes/bcl10"
      },
      {
        "slug": "bcl11b",
        "symbol": "BCL11B",
        "name": "BCL11 transcription factor B",
        "shared": 1,
        "url": "https://dantelabs.com/genes/bcl11b"
      },
      {
        "slug": "blnk",
        "symbol": "BLNK",
        "name": "B cell linker",
        "shared": 1,
        "url": "https://dantelabs.com/genes/blnk"
      },
      {
        "slug": "bloc1s6",
        "symbol": "BLOC1S6",
        "name": "biogenesis of lysosomal organelles complex 1 subunit 6",
        "shared": 1,
        "url": "https://dantelabs.com/genes/bloc1s6"
      },
      {
        "slug": "btk",
        "symbol": "BTK",
        "name": "Bruton tyrosine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/genes/btk"
      },
      {
        "slug": "c1qa",
        "symbol": "C1QA",
        "name": "complement C1q A chain",
        "shared": 1,
        "url": "https://dantelabs.com/genes/c1qa"
      },
      {
        "slug": "c1qb",
        "symbol": "C1QB",
        "name": "complement C1q B chain",
        "shared": 1,
        "url": "https://dantelabs.com/genes/c1qb"
      },
      {
        "slug": "c1qc",
        "symbol": "C1QC",
        "name": "complement C1q C chain",
        "shared": 1,
        "url": "https://dantelabs.com/genes/c1qc"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}