{
  "url": "https://dantelabs.com/tr/genes/pstpip1",
  "gene": {
    "slug": "pstpip1",
    "symbol": "PSTPIP1",
    "name": "proline-serine-threonine phosphatase interacting protein 1",
    "hgnc": "HGNC:9580",
    "summary": null,
    "location": "15q24.3",
    "locusType": "gene with protein product",
    "aliases": [
      "PSTPIP",
      "CD2BP1L",
      "CD2BP1",
      "CD2BP1S",
      "H-PIP",
      "PAPAS"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000140368",
    "entrezId": 9051,
    "omim": [
      "606347"
    ],
    "uniprot": [
      "O43586"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "15",
      "start": 76995126,
      "end": 77037475,
      "strand": "+",
      "ensemblTranscript": "ENST00000558012.6",
      "refseqTranscript": "NM_003978.5",
      "ensemblProtein": "ENSP00000452746.1",
      "refseqProtein": "NP_003969.2",
      "exons": [
        {
          "start": 76995126,
          "end": 76995609
        },
        {
          "start": 77018148,
          "end": 77018248
        },
        {
          "start": 77018457,
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          "start": 77025284,
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        },
        {
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        },
        {
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        },
        {
          "start": 77028554,
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        },
        {
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        },
        {
          "start": 77030502,
          "end": 77030581
        },
        {
          "start": 77031180,
          "end": 77031278
        },
        {
          "start": 77032298,
          "end": 77032394
        },
        {
          "start": 77032862,
          "end": 77032952
        },
        {
          "start": 77035508,
          "end": 77035563
        },
        {
          "start": 77035802,
          "end": 77035935
        },
        {
          "start": 77037045,
          "end": 77037475
        }
      ],
      "cds": {
        "start": 76995574,
        "end": 77037176
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "15",
      "start": 77285700,
      "end": 77329673,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 76516301,
      "end": 77516300,
      "genes": [
        {
          "symbol": "SCAPER",
          "ensemblId": "ENSG00000140386",
          "biotype": "protein_coding",
          "start": 76347904,
          "end": 76905970,
          "strand": "-",
          "slug": "scaper"
        },
        {
          "symbol": "RCN2",
          "ensemblId": "ENSG00000117906",
          "biotype": "protein_coding",
          "start": 76931649,
          "end": 76954393,
          "strand": "+",
          "slug": "rcn2"
        },
        {
          "symbol": "TSPAN3",
          "ensemblId": "ENSG00000140391",
          "biotype": "protein_coding",
          "start": 77041404,
          "end": 77083984,
          "strand": "-",
          "slug": "tspan3"
        },
        {
          "symbol": "PEAK1",
          "ensemblId": "ENSG00000173517",
          "biotype": "protein_coding",
          "start": 77100656,
          "end": 77420301,
          "strand": "-",
          "slug": "peak1"
        },
        {
          "symbol": "HMG20A",
          "ensemblId": "ENSG00000140382",
          "biotype": "protein_coding",
          "start": 77419830,
          "end": 77496554,
          "strand": "+",
          "slug": "hmg20a"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "rare-monogenic-autoinflammatory-diseases",
        "name": "Nadir Görülen Monogenik Otoinflamatuar Hastalıklar",
        "diseases": [
          {
            "mondoId": "MONDO:0011462",
            "name": "PAPA sendromu (piyojenik artrit, piyoderma gangrenozum ve akne)",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "PSTPIP1'deki varyantlardan kaynaklanan, ağır cilt ülserleri ve akneyle birlikte görülen steril eklem iltihabı atakları.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/tr/conditions/rare-monogenic-autoinflammatory-diseases"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "acne",
        "name": "Acne",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/acne"
      },
      {
        "slug": "allergy",
        "name": "Allergy",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/allergy"
      },
      {
        "slug": "arthritis",
        "name": "Arthritis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/arthritis"
      },
      {
        "slug": "cellulitis",
        "name": "Bacterial infection of skin",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cellulitis"
      },
      {
        "slug": "colitis",
        "name": "Colitis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/colitis"
      },
      {
        "slug": "crohn-s-disease",
        "name": "Crohn's disease",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/crohn-s-disease"
      },
      {
        "slug": "cystic-acne",
        "name": "Cystic acne",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cystic-acne"
      },
      {
        "slug": "immunodeficiency",
        "name": "Decreased immune function",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/immunodeficiency"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "elbow-flexion-contracture",
        "name": "Elbow flexion contracture",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elbow-flexion-contracture"
      },
      {
        "slug": "elevated-circulating-c-reactive-protein-concentration",
        "name": "Elevated circulating C-reactive protein concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-c-reactive-protein-concentration"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "hepatosplenomegaly",
        "name": "Enlarged liver and spleen",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatosplenomegaly"
      },
      {
        "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": "proteinuria",
        "name": "High urine protein levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/proteinuria"
      },
      {
        "slug": "knee-flexion-contracture",
        "name": "Inability to straighten knee",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/knee-flexion-contracture"
      },
      {
        "slug": "increased-circulating-immunoglobulin-concentration",
        "name": "Increased antibody level in blood",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-immunoglobulin-concentration"
      },
      {
        "slug": "increased-inflammatory-response",
        "name": "Increased inflammatory response",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-inflammatory-response"
      },
      {
        "slug": "thrombocytosis",
        "name": "Increased number of platelets in blood",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thrombocytosis"
      },
      {
        "slug": "increased-serum-zinc",
        "name": "Increased serum zinc",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/increased-serum-zinc"
      },
      {
        "slug": "vasculitis",
        "name": "Inflammation of blood vessel",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/vasculitis"
      },
      {
        "slug": "arthralgia",
        "name": "Joint pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/arthralgia"
      },
      {
        "slug": "limitation-of-joint-mobility",
        "name": "Limitation of joint mobility",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/limitation-of-joint-mobility"
      },
      {
        "slug": "pancytopenia",
        "name": "Low blood cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/pancytopenia"
      },
      {
        "slug": "microcytic-anemia",
        "name": "Microcytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microcytic-anemia"
      },
      {
        "slug": "myositis",
        "name": "Muscle inflammation",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myositis"
      },
      {
        "slug": "skin-ulcer",
        "name": "Open skin sore",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/skin-ulcer"
      },
      {
        "slug": "osteoporosis",
        "name": "Osteoporosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/osteoporosis"
      },
      {
        "slug": "pustule",
        "name": "Pimple",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pustule"
      },
      {
        "slug": "pyoderma-gangrenosum",
        "name": "Pyoderma gangrenosum",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pyoderma-gangrenosum"
      },
      {
        "slug": "skin-rash",
        "name": "Skin rash",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/skin-rash"
      },
      {
        "slug": "sterile-abscess",
        "name": "Sterile abscess",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/sterile-abscess"
      },
      {
        "slug": "sterile-arthritis",
        "name": "Sterile arthritis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sterile-arthritis"
      },
      {
        "slug": "lymphadenopathy",
        "name": "Swollen lymph nodes",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lymphadenopathy"
      },
      {
        "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"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}