{
  "url": "https://dantelabs.com/ko/genes/spi1",
  "gene": {
    "slug": "spi1",
    "symbol": "SPI1",
    "name": "Spi-1 proto-oncogene",
    "hgnc": "HGNC:11241",
    "summary": null,
    "location": "11p11.2",
    "locusType": "gene with protein product",
    "aliases": [
      "PU.1",
      "SPI-A",
      "OF",
      "SFPI1",
      "SPI-1"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000066336",
    "entrezId": 6688,
    "omim": [
      "165170"
    ],
    "uniprot": [
      "P17947"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "11",
      "start": 47354860,
      "end": 47378547,
      "strand": "-",
      "ensemblTranscript": "ENST00000378538.8",
      "refseqTranscript": "NM_003120.3",
      "ensemblProtein": "ENSP00000367799.4",
      "refseqProtein": "NP_003111.2",
      "exons": [
        {
          "start": 47354860,
          "end": 47355546
        },
        {
          "start": 47358844,
          "end": 47359006
        },
        {
          "start": 47359853,
          "end": 47360040
        },
        {
          "start": 47375633,
          "end": 47375729
        },
        {
          "start": 47378309,
          "end": 47378547
        }
      ],
      "cds": {
        "start": 47355227,
        "end": 47378353
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "11",
      "start": 47376411,
      "end": 47400127,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 46866704,
      "end": 47866703,
      "genes": [
        {
          "symbol": "LRP4",
          "ensemblId": "ENSG00000134569",
          "biotype": "protein_coding",
          "start": 46856717,
          "end": 46918642,
          "strand": "-",
          "slug": "lrp4"
        },
        {
          "symbol": "CSTPP1",
          "ensemblId": "ENSG00000149179",
          "biotype": "protein_coding",
          "start": 46936689,
          "end": 47165535,
          "strand": "+",
          "slug": "cstpp1"
        },
        {
          "symbol": "ARFGAP2",
          "ensemblId": "ENSG00000149182",
          "biotype": "protein_coding",
          "start": 47135667,
          "end": 47177474,
          "strand": "-",
          "slug": "arfgap2"
        },
        {
          "symbol": "PACSIN3",
          "ensemblId": "ENSG00000165912",
          "biotype": "protein_coding",
          "start": 47177511,
          "end": 47187487,
          "strand": "-",
          "slug": "pacsin3"
        },
        {
          "symbol": "DDB2",
          "ensemblId": "ENSG00000134574",
          "biotype": "protein_coding",
          "start": 47214435,
          "end": 47240555,
          "strand": "+",
          "slug": "ddb2"
        },
        {
          "symbol": "ACP2",
          "ensemblId": "ENSG00000134575",
          "biotype": "protein_coding",
          "start": 47237598,
          "end": 47249288,
          "strand": "-",
          "slug": "acp2"
        },
        {
          "symbol": "NR1H3",
          "ensemblId": "ENSG00000025434",
          "biotype": "protein_coding",
          "start": 47248300,
          "end": 47269131,
          "strand": "+",
          "slug": "nr1h3"
        },
        {
          "symbol": "MADD",
          "ensemblId": "ENSG00000110514",
          "biotype": "protein_coding",
          "start": 47269161,
          "end": 47330038,
          "strand": "+",
          "slug": "madd"
        },
        {
          "symbol": "MYBPC3",
          "ensemblId": "ENSG00000134571",
          "biotype": "protein_coding",
          "start": 47331406,
          "end": 47352702,
          "strand": "-",
          "slug": "mybpc3"
        },
        {
          "symbol": "SLC39A13",
          "ensemblId": "ENSG00000165915",
          "biotype": "protein_coding",
          "start": 47407132,
          "end": 47416587,
          "strand": "+",
          "slug": "slc39a13"
        },
        {
          "symbol": "PSMC3",
          "ensemblId": "ENSG00000165916",
          "biotype": "protein_coding",
          "start": 47418765,
          "end": 47426488,
          "strand": "-",
          "slug": "psmc3"
        },
        {
          "symbol": "RAPSN",
          "ensemblId": "ENSG00000165917",
          "biotype": "protein_coding",
          "start": 47436816,
          "end": 47449192,
          "strand": "-",
          "slug": "rapsn"
        },
        {
          "symbol": "CELF1",
          "ensemblId": "ENSG00000149187",
          "biotype": "protein_coding",
          "start": 47465933,
          "end": 47565569,
          "strand": "-",
          "slug": "celf1"
        },
        {
          "symbol": "NDUFS3",
          "ensemblId": "ENSG00000213619",
          "biotype": "protein_coding",
          "start": 47565336,
          "end": 47584565,
          "strand": "+",
          "slug": "ndufs3"
        },
        {
          "symbol": "PTPMT1",
          "ensemblId": "ENSG00000110536",
          "biotype": "protein_coding",
          "start": 47565430,
          "end": 47573461,
          "strand": "+",
          "slug": "ptpmt1"
        },
        {
          "symbol": "KBTBD4",
          "ensemblId": "ENSG00000123444",
          "biotype": "protein_coding",
          "start": 47572196,
          "end": 47578982,
          "strand": "-",
          "slug": "kbtbd4"
        },
        {
          "symbol": "FAM180B",
          "ensemblId": "ENSG00000196666",
          "biotype": "protein_coding",
          "start": 47586207,
          "end": 47589195,
          "strand": "+",
          "slug": "fam180b"
        },
        {
          "symbol": "C1QTNF4",
          "ensemblId": "ENSG00000172247",
          "biotype": "protein_coding",
          "start": 47589666,
          "end": 47595642,
          "strand": "-",
          "slug": "c1qtnf4"
        },
        {
          "symbol": "MTCH2",
          "ensemblId": "ENSG00000109919",
          "biotype": "protein_coding",
          "start": 47604339,
          "end": 47642698,
          "strand": "-",
          "slug": "mtch2"
        },
        {
          "symbol": "AGBL2",
          "ensemblId": "ENSG00000165923",
          "biotype": "protein_coding",
          "start": 47659591,
          "end": 47715389,
          "strand": "-",
          "slug": "agbl2"
        },
        {
          "symbol": "FNBP4",
          "ensemblId": "ENSG00000109920",
          "biotype": "protein_coding",
          "start": 47716494,
          "end": 47767460,
          "strand": "-",
          "slug": "fnbp4"
        },
        {
          "symbol": "NUP160",
          "ensemblId": "ENSG00000030066",
          "biotype": "protein_coding",
          "start": 47777872,
          "end": 47848561,
          "strand": "-",
          "slug": "nup160"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "agammaglobulinemia",
        "name": "무감마글로불린혈증(X 연관형 및 상염색체 유전형)",
        "diseases": [
          {
            "mondoId": "MONDO:0030529",
            "name": "무감마글로불린혈증 10형(SPI1)",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "SPI1(PU.1) 유전자 한 개 사본의 변이로 인해 B세포가 감소하고 항체 결핍이 나타나는 질환입니다.",
            "management": "평생 면역글로불린 보충 요법을 받고, 감염 시 즉시 치료하며, 생백신 접종을 피하면 대부분의 심각한 합병증을 예방할 수 있습니다.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ko/conditions/agammaglobulinemia"
      },
      {
        "slug": "immunodeficiency-disease",
        "name": "기타 선천성 면역 결핍 질환",
        "diseases": [
          {
            "mondoId": "MONDO:0003778",
            "name": "선천성 면역 결핍증",
            "genes": 114,
            "inheritance": null,
            "description": "단일 유전자의 변화로 생기는 유전성 면역계 질환으로, 감염에 맞서는 능력이나 염증 조절 기능에 영향을 줍니다.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          },
          {
            "mondoId": "MONDO:0021094",
            "name": "면역결핍 질환",
            "genes": 170,
            "inheritance": null,
            "description": "세포성 또는 체액성 면역 기전에 결핍이나 결함이 있는 질환입니다.",
            "management": "중증복합면역결핍(SCID) 및 중증 원발성 면역결핍에는 조혈모세포이식(HSCT)을, 항체 결핍에는 면역글로불린 보충요법(IVIG/SCIG)을 시행합니다. APDS에는 2023년 FDA 승인된 레니올리십(Joenja)을, ADA-SCID에는 유전자 치료를, CTLA4/LRBA 결핍에는 아바타셉트를 사용합니다. 예방적 항생제 투여와 CGD에 대한 G-CSF 치료도 함께 시행됩니다.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/ko/conditions/immunodeficiency-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-pinna-morphology",
        "name": "Abnormally shaped ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-pinna-morphology"
      },
      {
        "slug": "absent-circulating-b-cells",
        "name": "Absent circulating B cells",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/absent-circulating-b-cells"
      },
      {
        "slug": "agammaglobulinemia",
        "name": "Agammaglobulinemia",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/agammaglobulinemia"
      },
      {
        "slug": "arthritis",
        "name": "Arthritis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/arthritis"
      },
      {
        "slug": "cellulitis",
        "name": "Bacterial infection of skin",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cellulitis"
      },
      {
        "slug": "osteomyelitis",
        "name": "Bone infection",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/osteomyelitis"
      },
      {
        "slug": "chronic-otitis-media",
        "name": "Chronic infections of the middle ear",
        "systems": [
          "abnormality-of-the-ear",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/chronic-otitis-media"
      },
      {
        "slug": "cough",
        "name": "Cough",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cough"
      },
      {
        "slug": "decreased-circulating-iga-concentration",
        "name": "Decreased circulating IgA concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-iga-concentration"
      },
      {
        "slug": "decreased-circulating-igg-concentration",
        "name": "Decreased circulating IgG concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-circulating-igg-concentration"
      },
      {
        "slug": "decreased-circulating-igm-concentration",
        "name": "Decreased circulating IgM concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-igm-concentration"
      },
      {
        "slug": "immunodeficiency",
        "name": "Decreased immune function",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/immunodeficiency"
      },
      {
        "slug": "dehydration",
        "name": "Dehydration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dehydration"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "sepsis",
        "name": "Infection in blood stream",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sepsis"
      },
      {
        "slug": "hepatitis",
        "name": "Liver inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatitis"
      },
      {
        "slug": "decreased-total-neutrophil-count",
        "name": "Low blood neutrophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-total-neutrophil-count"
      },
      {
        "slug": "malabsorption",
        "name": "Malabsorption",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/malabsorption"
      },
      {
        "slug": "meningitis",
        "name": "Meningitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/meningitis"
      },
      {
        "slug": "bronchiectasis",
        "name": "Permanent enlargement of the airways of the lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bronchiectasis"
      },
      {
        "slug": "conjunctivitis",
        "name": "Pink eye",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/conjunctivitis"
      },
      {
        "slug": "recurrent-infections",
        "name": "Recurrent infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/recurrent-infections"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "recurrent-sinusitis",
        "name": "Recurrent sinus disease",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-sinusitis"
      },
      {
        "slug": "recurrent-skin-infections",
        "name": "Recurrent skin infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/recurrent-skin-infections"
      },
      {
        "slug": "sinusitis",
        "name": "Sinus disease",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sinusitis"
      },
      {
        "slug": "skin-rash",
        "name": "Skin rash",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/skin-rash"
      },
      {
        "slug": "transiently-decreased-total-neutrophil-count",
        "name": "Transiently decreased total neutrophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/transiently-decreased-total-neutrophil-count"
      },
      {
        "slug": "type-i-diabetes-mellitus",
        "name": "Type 1 diabetes",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/type-i-diabetes-mellitus"
      },
      {
        "slug": "verrucae",
        "name": "Warts",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/verrucae"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [
      {
        "slug": "aicda",
        "symbol": "AICDA",
        "name": "activation induced cytidine deaminase",
        "shared": 2,
        "url": "https://dantelabs.com/ko/genes/aicda"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 2,
        "url": "https://dantelabs.com/ko/genes/atp6ap1"
      },
      {
        "slug": "bcl10",
        "symbol": "BCL10",
        "name": "BCL10 immune signaling adaptor",
        "shared": 2,
        "url": "https://dantelabs.com/ko/genes/bcl10"
      },
      {
        "slug": "bcl11b",
        "symbol": "BCL11B",
        "name": "BCL11 transcription factor B",
        "shared": 2,
        "url": "https://dantelabs.com/ko/genes/bcl11b"
      },
      {
        "slug": "blnk",
        "symbol": "BLNK",
        "name": "B cell linker",
        "shared": 2,
        "url": "https://dantelabs.com/ko/genes/blnk"
      },
      {
        "slug": "btk",
        "symbol": "BTK",
        "name": "Bruton tyrosine kinase",
        "shared": 2,
        "url": "https://dantelabs.com/ko/genes/btk"
      },
      {
        "slug": "c1qa",
        "symbol": "C1QA",
        "name": "complement C1q A chain",
        "shared": 2,
        "url": "https://dantelabs.com/ko/genes/c1qa"
      },
      {
        "slug": "c1qb",
        "symbol": "C1QB",
        "name": "complement C1q B chain",
        "shared": 2,
        "url": "https://dantelabs.com/ko/genes/c1qb"
      },
      {
        "slug": "c1qc",
        "symbol": "C1QC",
        "name": "complement C1q C chain",
        "shared": 2,
        "url": "https://dantelabs.com/ko/genes/c1qc"
      },
      {
        "slug": "c1s",
        "symbol": "C1S",
        "name": "complement C1s",
        "shared": 2,
        "url": "https://dantelabs.com/ko/genes/c1s"
      },
      {
        "slug": "c2",
        "symbol": "C2",
        "name": "complement C2",
        "shared": 2,
        "url": "https://dantelabs.com/ko/genes/c2"
      },
      {
        "slug": "c3",
        "symbol": "C3",
        "name": "complement C3",
        "shared": 2,
        "url": "https://dantelabs.com/ko/genes/c3"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}