{
  "url": "https://dantelabs.com/hu/genes/arpc1b",
  "gene": {
    "slug": "arpc1b",
    "symbol": "ARPC1B",
    "name": "actin related protein 2/3 complex subunit 1B",
    "hgnc": "HGNC:704",
    "summary": null,
    "location": "7q22.1",
    "locusType": "gene with protein product",
    "aliases": [
      "ARC41",
      "p40-ARC",
      "p41-ARC"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000130429",
    "entrezId": 10095,
    "omim": [
      "604223"
    ],
    "uniprot": [
      "O15143"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "7",
      "start": 99374730,
      "end": 99394816,
      "strand": "+",
      "ensemblTranscript": "ENST00000646101.2",
      "refseqTranscript": "NM_005720.4",
      "ensemblProtein": "ENSP00000496599.1",
      "refseqProtein": "NP_005711.1",
      "exons": [
        {
          "start": 99374730,
          "end": 99374781
        },
        {
          "start": 99385702,
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        },
        {
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        {
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          "end": 99390012
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        },
        {
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        },
        {
          "start": 99394029,
          "end": 99394119
        },
        {
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          "end": 99394816
        }
      ],
      "cds": {
        "start": 99385715,
        "end": 99394489
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "7",
      "start": 98971872,
      "end": 98992424,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 98884773,
      "end": 99884772,
      "genes": [
        {
          "symbol": "TRRAP",
          "ensemblId": "ENSG00000196367",
          "biotype": "protein_coding",
          "start": 98877933,
          "end": 99050831,
          "strand": "+",
          "slug": "trrap"
        },
        {
          "symbol": "SMURF1",
          "ensemblId": "ENSG00000198742",
          "biotype": "protein_coding",
          "start": 99027435,
          "end": 99144171,
          "strand": "-",
          "slug": "smurf1"
        },
        {
          "symbol": "KPNA7",
          "ensemblId": "ENSG00000185467",
          "biotype": "protein_coding",
          "start": 99173572,
          "end": 99250075,
          "strand": "-",
          "slug": "kpna7"
        },
        {
          "symbol": "MYH16",
          "ensemblId": "ENSG00000293560",
          "biotype": "protein_coding",
          "start": 99272839,
          "end": 99311132,
          "strand": "+",
          "slug": "myh16"
        },
        {
          "symbol": "ARPC1A",
          "ensemblId": "ENSG00000241685",
          "biotype": "protein_coding",
          "start": 99325879,
          "end": 99366527,
          "strand": "+",
          "slug": "arpc1a"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000284292",
          "biotype": "protein_coding",
          "start": 99325879,
          "end": 99394653,
          "strand": "+"
        },
        {
          "symbol": "PDAP1",
          "ensemblId": "ENSG00000106244",
          "biotype": "protein_coding",
          "start": 99392048,
          "end": 99408831,
          "strand": "-",
          "slug": "pdap1"
        },
        {
          "symbol": "BUD31",
          "ensemblId": "ENSG00000106245",
          "biotype": "protein_coding",
          "start": 99408610,
          "end": 99419618,
          "strand": "+",
          "slug": "bud31"
        },
        {
          "symbol": "PTCD1",
          "ensemblId": "ENSG00000106246",
          "biotype": "protein_coding",
          "start": 99415192,
          "end": 99466201,
          "strand": "-",
          "slug": "ptcd1"
        },
        {
          "symbol": "ATP5MF-PTCD1",
          "ensemblId": "ENSG00000248919",
          "biotype": "protein_coding",
          "start": 99419749,
          "end": 99466197,
          "strand": "-",
          "slug": "atp5mf-ptcd1"
        },
        {
          "symbol": "CPSF4",
          "ensemblId": "ENSG00000160917",
          "biotype": "protein_coding",
          "start": 99438908,
          "end": 99458910,
          "strand": "+",
          "slug": "cpsf4"
        },
        {
          "symbol": "ATP5MF",
          "ensemblId": "ENSG00000241468",
          "biotype": "protein_coding",
          "start": 99448475,
          "end": 99466201,
          "strand": "-",
          "slug": "atp5mf"
        },
        {
          "symbol": "ZNF789",
          "ensemblId": "ENSG00000198556",
          "biotype": "protein_coding",
          "start": 99472794,
          "end": 99503650,
          "strand": "+",
          "slug": "znf789"
        },
        {
          "symbol": "ZNF394",
          "ensemblId": "ENSG00000160908",
          "biotype": "protein_coding",
          "start": 99473877,
          "end": 99504918,
          "strand": "-",
          "slug": "znf394"
        },
        {
          "symbol": "ZKSCAN5",
          "ensemblId": "ENSG00000196652",
          "biotype": "protein_coding",
          "start": 99504634,
          "end": 99535360,
          "strand": "+",
          "slug": "zkscan5"
        },
        {
          "symbol": "ZBED8L",
          "ensemblId": "ENSG00000221909",
          "biotype": "protein_coding",
          "start": 99546204,
          "end": 99559392,
          "strand": "-",
          "slug": "zbed8l"
        },
        {
          "symbol": "ZNF655",
          "ensemblId": "ENSG00000197343",
          "biotype": "protein_coding",
          "start": 99558389,
          "end": 99578948,
          "strand": "+",
          "slug": "znf655"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000272647",
          "biotype": "protein_coding",
          "start": 99558695,
          "end": 99607810,
          "strand": "+"
        },
        {
          "symbol": "TMEM225B",
          "ensemblId": "ENSG00000244219",
          "biotype": "protein_coding",
          "start": 99597868,
          "end": 99611045,
          "strand": "+",
          "slug": "tmem225b"
        },
        {
          "symbol": "ZSCAN25",
          "ensemblId": "ENSG00000197037",
          "biotype": "protein_coding",
          "start": 99616623,
          "end": 99738531,
          "strand": "+",
          "slug": "zscan25"
        },
        {
          "symbol": "CYP3A5",
          "ensemblId": "ENSG00000106258",
          "biotype": "protein_coding",
          "start": 99647442,
          "end": 99680043,
          "strand": "-",
          "slug": "cyp3a5"
        },
        {
          "symbol": "CYP3A7-CYP3A51P",
          "ensemblId": "ENSG00000282301",
          "biotype": "protein_coding",
          "start": 99684957,
          "end": 99735102,
          "strand": "-",
          "slug": "cyp3a7-cyp3a51p"
        },
        {
          "symbol": "CYP3A7",
          "ensemblId": "ENSG00000160870",
          "biotype": "protein_coding",
          "start": 99704105,
          "end": 99735196,
          "strand": "-",
          "slug": "cyp3a7"
        },
        {
          "symbol": "CYP3A4",
          "ensemblId": "ENSG00000160868",
          "biotype": "protein_coding",
          "start": 99756954,
          "end": 99784327,
          "strand": "-",
          "slug": "cyp3a4"
        },
        {
          "symbol": "CYP3A43",
          "ensemblId": "ENSG00000021461",
          "biotype": "protein_coding",
          "start": 99827922,
          "end": 99867801,
          "strand": "+",
          "slug": "cyp3a43"
        },
        {
          "symbol": "OR2AE1",
          "ensemblId": "ENSG00000244623",
          "biotype": "protein_coding",
          "start": 99876062,
          "end": 99877033,
          "strand": "-",
          "slug": "or2ae1"
        },
        {
          "symbol": "TRIM4",
          "ensemblId": "ENSG00000146833",
          "biotype": "protein_coding",
          "start": 99876958,
          "end": 99919604,
          "strand": "-",
          "slug": "trim4"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "inherited-thrombocytopenias",
        "name": "Inherited Thrombocytopenias",
        "diseases": [
          {
            "mondoId": "MONDO:0100241",
            "name": "Inherited Thrombocytopenia",
            "genes": 33,
            "inheritance": null,
            "description": "A group of conditions causing a lifelong low platelet count, linked to genes such as MYH9, ANKRD26, ETV6, WAS, MPL, RBM8A, GATA1 and MECOM, and inherited in dominant, recessive or X-linked patterns.",
            "management": "A genetic diagnosis avoids misdiagnosis as immune thrombocytopenia, with unnecessary steroids or spleen removal, and guides monitoring for related kidney, hearing or blood problems.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/inherited-thrombocytopenias"
      },
      {
        "slug": "immunodeficiency-disease",
        "name": "Other Inborn Errors of Immunity",
        "diseases": [
          {
            "mondoId": "MONDO:0021094",
            "name": "Immunodeficiency Disease",
            "genes": 170,
            "inheritance": null,
            "description": "Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.",
            "management": "HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/immunodeficiency-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "antinuclear-antibody-positivity",
        "name": "Antinuclear antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/antinuclear-antibody-positivity"
      },
      {
        "slug": "cellulitis",
        "name": "Bacterial infection of skin",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cellulitis"
      },
      {
        "slug": "bloody-diarrhea",
        "name": "Bloody diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bloody-diarrhea"
      },
      {
        "slug": "colonic-eosinophilia",
        "name": "Colonic eosinophilia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/colonic-eosinophilia"
      },
      {
        "slug": "elevated-circulating-c-reactive-protein-concentration",
        "name": "Elevated circulating C-reactive protein concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-c-reactive-protein-concentration"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "elevated-erythrocyte-sedimentation-rate",
        "name": "High ESR",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-erythrocyte-sedimentation-rate"
      },
      {
        "slug": "increased-total-lymphocyte-count",
        "name": "High lymphocyte count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/increased-total-lymphocyte-count"
      },
      {
        "slug": "vasculitis",
        "name": "Inflammation of blood vessel",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/vasculitis"
      },
      {
        "slug": "blepharitis",
        "name": "Inflammation of eyelids",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/blepharitis"
      },
      {
        "slug": "inflammation-of-the-large-intestine",
        "name": "Inflammation of the large intestine",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/inflammation-of-the-large-intestine"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "meningitis",
        "name": "Meningitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/meningitis"
      },
      {
        "slug": "perinuclear-antineutrophil-antibody-positivity",
        "name": "Perinuclear antineutrophil antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/perinuclear-antineutrophil-antibody-positivity"
      },
      {
        "slug": "hematochezia",
        "name": "Rectal bleeding",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hematochezia"
      },
      {
        "slug": "recurrent-infections",
        "name": "Recurrent infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-infections"
      },
      {
        "slug": "recurrent-pneumonia",
        "name": "Recurrent pneumonia",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-pneumonia"
      },
      {
        "slug": "skin-rash",
        "name": "Skin rash",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/skin-rash"
      },
      {
        "slug": "decreased-mean-platelet-volume",
        "name": "Small platelet size",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/decreased-mean-platelet-volume"
      },
      {
        "slug": "subconjunctival-hemorrhage",
        "name": "Subconjunctival hemorrhage",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/subconjunctival-hemorrhage"
      },
      {
        "slug": "lymphadenopathy",
        "name": "Swollen lymph nodes",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/lymphadenopathy"
      },
      {
        "slug": "cervical-lymphadenopathy",
        "name": "Swollen lymph nodes in the neck",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cervical-lymphadenopathy"
      },
      {
        "slug": "vasculitis-in-the-skin",
        "name": "Vasculitis in the skin",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/vasculitis-in-the-skin"
      }
    ],
    "related": [
      {
        "slug": "stim1",
        "symbol": "STIM1",
        "name": "stromal interaction molecule 1",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/stim1"
      },
      {
        "slug": "was",
        "symbol": "WAS",
        "name": "WASP actin nucleation promoting factor",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/was"
      },
      {
        "slug": "actb",
        "symbol": "ACTB",
        "name": "actin beta",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/actb"
      },
      {
        "slug": "actn1",
        "symbol": "ACTN1",
        "name": "actinin alpha 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/actn1"
      },
      {
        "slug": "ada",
        "symbol": "ADA",
        "name": "adenosine deaminase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ada"
      },
      {
        "slug": "adamts13",
        "symbol": "ADAMTS13",
        "name": "ADAM metallopeptidase with thrombospondin type 1 motif 13",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/adamts13"
      },
      {
        "slug": "aicda",
        "symbol": "AICDA",
        "name": "activation induced cytidine deaminase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/aicda"
      },
      {
        "slug": "ak2",
        "symbol": "AK2",
        "name": "adenylate kinase 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ak2"
      },
      {
        "slug": "ankrd26",
        "symbol": "ANKRD26",
        "name": "ankyrin repeat domain 26",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ankrd26"
      },
      {
        "slug": "arpc5",
        "symbol": "ARPC5",
        "name": "actin related protein 2/3 complex subunit 5",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/arpc5"
      },
      {
        "slug": "atm",
        "symbol": "ATM",
        "name": "ATM serine/threonine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/atm"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/atp6ap1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}