{
  "url": "https://dantelabs.com/nl/genes/arhgef1",
  "gene": {
    "slug": "arhgef1",
    "symbol": "ARHGEF1",
    "name": "Rho guanine nucleotide exchange factor 1",
    "hgnc": "HGNC:681",
    "summary": null,
    "location": "19q13.2",
    "locusType": "gene with protein product",
    "aliases": [
      "P115-RHOGEF",
      "SUB1.5",
      "LBCL2"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000076928",
    "entrezId": 9138,
    "omim": [
      "601855"
    ],
    "uniprot": [
      "Q92888"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "19",
      "start": 41883184,
      "end": 41907452,
      "strand": "+",
      "ensemblTranscript": "ENST00000354532.8",
      "refseqTranscript": "NM_004706.4",
      "ensemblProtein": "ENSP00000346532.3",
      "refseqProtein": "NP_004697.2",
      "exons": [
        {
          "start": 41883184,
          "end": 41883289
        },
        {
          "start": 41888064,
          "end": 41888106
        },
        {
          "start": 41888192,
          "end": 41888278
        },
        {
          "start": 41888752,
          "end": 41888865
        },
        {
          "start": 41892025,
          "end": 41892123
        },
        {
          "start": 41892331,
          "end": 41892373
        },
        {
          "start": 41892603,
          "end": 41892849
        },
        {
          "start": 41893274,
          "end": 41893303
        },
        {
          "start": 41894207,
          "end": 41894306
        },
        {
          "start": 41894451,
          "end": 41894547
        },
        {
          "start": 41894626,
          "end": 41894661
        },
        {
          "start": 41895349,
          "end": 41895486
        },
        {
          "start": 41896377,
          "end": 41896482
        },
        {
          "start": 41898442,
          "end": 41898587
        },
        {
          "start": 41901887,
          "end": 41902033
        },
        {
          "start": 41902274,
          "end": 41902356
        },
        {
          "start": 41902533,
          "end": 41902658
        },
        {
          "start": 41902784,
          "end": 41902898
        },
        {
          "start": 41903307,
          "end": 41903407
        },
        {
          "start": 41903707,
          "end": 41903784
        },
        {
          "start": 41904035,
          "end": 41904110
        },
        {
          "start": 41904216,
          "end": 41904383
        },
        {
          "start": 41904949,
          "end": 41905036
        },
        {
          "start": 41905175,
          "end": 41905261
        },
        {
          "start": 41905760,
          "end": 41905827
        },
        {
          "start": 41905939,
          "end": 41906025
        },
        {
          "start": 41906457,
          "end": 41906620
        },
        {
          "start": 41906703,
          "end": 41906803
        },
        {
          "start": 41907105,
          "end": 41907452
        }
      ],
      "cds": {
        "start": 41888083,
        "end": 41906786
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "19",
      "start": 42387228,
      "end": 42434302,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 41395318,
      "end": 42395317,
      "genes": [
        {
          "symbol": "",
          "ensemblId": "ENSG00000255730",
          "biotype": "protein_coding",
          "start": 41350853,
          "end": 41425001,
          "strand": "+"
        },
        {
          "symbol": "EXOSC5",
          "ensemblId": "ENSG00000077348",
          "biotype": "protein_coding",
          "start": 41367173,
          "end": 41397441,
          "strand": "-",
          "slug": "exosc5"
        },
        {
          "symbol": "BCKDHA",
          "ensemblId": "ENSG00000248098",
          "biotype": "protein_coding",
          "start": 41397792,
          "end": 41425092,
          "strand": "+",
          "slug": "bckdha"
        },
        {
          "symbol": "B3GNT8",
          "ensemblId": "ENSG00000177191",
          "biotype": "protein_coding",
          "start": 41422878,
          "end": 41428730,
          "strand": "-",
          "slug": "b3gnt8"
        },
        {
          "symbol": "DMAC2",
          "ensemblId": "ENSG00000105341",
          "biotype": "protein_coding",
          "start": 41431317,
          "end": 41440717,
          "strand": "-",
          "slug": "dmac2"
        },
        {
          "symbol": "ERICH4",
          "ensemblId": "ENSG00000204978",
          "biotype": "protein_coding",
          "start": 41443152,
          "end": 41444765,
          "strand": "+",
          "slug": "erich4"
        },
        {
          "symbol": "CEACAM21",
          "ensemblId": "ENSG00000007129",
          "biotype": "protein_coding",
          "start": 41549518,
          "end": 41586844,
          "strand": "+",
          "slug": "ceacam21"
        },
        {
          "symbol": "CEACAM4",
          "ensemblId": "ENSG00000105352",
          "biotype": "protein_coding",
          "start": 41619014,
          "end": 41627082,
          "strand": "-",
          "slug": "ceacam4"
        },
        {
          "symbol": "CEACAM7",
          "ensemblId": "ENSG00000007306",
          "biotype": "protein_coding",
          "start": 41666629,
          "end": 41706976,
          "strand": "-",
          "slug": "ceacam7"
        },
        {
          "symbol": "CEACAM5",
          "ensemblId": "ENSG00000105388",
          "biotype": "protein_coding",
          "start": 41708585,
          "end": 41730519,
          "strand": "+",
          "slug": "ceacam5"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000267881",
          "biotype": "protein_coding",
          "start": 41708657,
          "end": 41756737,
          "strand": "+"
        },
        {
          "symbol": "CEACAM6",
          "ensemblId": "ENSG00000086548",
          "biotype": "protein_coding",
          "start": 41750977,
          "end": 41772211,
          "strand": "+",
          "slug": "ceacam6"
        },
        {
          "symbol": "CEACAM3",
          "ensemblId": "ENSG00000170956",
          "biotype": "protein_coding",
          "start": 41796587,
          "end": 41811557,
          "strand": "+",
          "slug": "ceacam3"
        },
        {
          "symbol": "LYPD4",
          "ensemblId": "ENSG00000273111",
          "biotype": "protein_coding",
          "start": 41837073,
          "end": 41844718,
          "strand": "-",
          "slug": "lypd4"
        },
        {
          "symbol": "DMRTC2",
          "ensemblId": "ENSG00000142025",
          "biotype": "protein_coding",
          "start": 41844743,
          "end": 41852333,
          "strand": "+",
          "slug": "dmrtc2"
        },
        {
          "symbol": "RPS19",
          "ensemblId": "ENSG00000105372",
          "biotype": "protein_coding",
          "start": 41859848,
          "end": 41872931,
          "strand": "+",
          "slug": "rps19"
        },
        {
          "symbol": "CD79A",
          "ensemblId": "ENSG00000105369",
          "biotype": "protein_coding",
          "start": 41877104,
          "end": 41881372,
          "strand": "+",
          "slug": "cd79a"
        },
        {
          "symbol": "ERFL",
          "ensemblId": "ENSG00000268041",
          "biotype": "protein_coding",
          "start": 41907704,
          "end": 41928449,
          "strand": "-",
          "slug": "erfl"
        },
        {
          "symbol": "RABAC1",
          "ensemblId": "ENSG00000105404",
          "biotype": "protein_coding",
          "start": 41956681,
          "end": 41959390,
          "strand": "-",
          "slug": "rabac1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000285505",
          "biotype": "protein_coding",
          "start": 41956879,
          "end": 41994232,
          "strand": "-"
        },
        {
          "symbol": "ATP1A3",
          "ensemblId": "ENSG00000105409",
          "biotype": "protein_coding",
          "start": 41966582,
          "end": 41997497,
          "strand": "-",
          "slug": "atp1a3"
        },
        {
          "symbol": "GRIK5",
          "ensemblId": "ENSG00000105737",
          "biotype": "protein_coding",
          "start": 41998315,
          "end": 42070240,
          "strand": "-",
          "slug": "grik5"
        },
        {
          "symbol": "ZNF574",
          "ensemblId": "ENSG00000105732",
          "biotype": "protein_coding",
          "start": 42068477,
          "end": 42083096,
          "strand": "+",
          "slug": "znf574"
        },
        {
          "symbol": "POU2F2",
          "ensemblId": "ENSG00000028277",
          "biotype": "protein_coding",
          "start": 42086110,
          "end": 42196585,
          "strand": "-",
          "slug": "pou2f2"
        },
        {
          "symbol": "DEDD2",
          "ensemblId": "ENSG00000160570",
          "biotype": "protein_coding",
          "start": 42198593,
          "end": 42220140,
          "strand": "-",
          "slug": "dedd2"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000288671",
          "biotype": "protein_coding",
          "start": 42215133,
          "end": 42232149,
          "strand": "-"
        },
        {
          "symbol": "ZNF526",
          "ensemblId": "ENSG00000167625",
          "biotype": "protein_coding",
          "start": 42216774,
          "end": 42231887,
          "strand": "+",
          "slug": "znf526"
        },
        {
          "symbol": "GSK3A",
          "ensemblId": "ENSG00000105723",
          "biotype": "protein_coding",
          "start": 42226225,
          "end": 42242625,
          "strand": "-",
          "slug": "gsk3a"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000268643",
          "biotype": "protein_coding",
          "start": 42234583,
          "end": 42255132,
          "strand": "-"
        },
        {
          "symbol": "ERF",
          "ensemblId": "ENSG00000105722",
          "biotype": "protein_coding",
          "start": 42247569,
          "end": 42255172,
          "strand": "-",
          "slug": "erf"
        },
        {
          "symbol": "CIC",
          "ensemblId": "ENSG00000079432",
          "biotype": "protein_coding",
          "start": 42268508,
          "end": 42295801,
          "strand": "+",
          "slug": "cic"
        },
        {
          "symbol": "PAFAH1B3",
          "ensemblId": "ENSG00000079462",
          "biotype": "protein_coding",
          "start": 42297023,
          "end": 42303546,
          "strand": "-",
          "slug": "pafah1b3"
        },
        {
          "symbol": "PRR19",
          "ensemblId": "ENSG00000188368",
          "biotype": "protein_coding",
          "start": 42302098,
          "end": 42310821,
          "strand": "+",
          "slug": "prr19"
        },
        {
          "symbol": "TMEM145",
          "ensemblId": "ENSG00000167619",
          "biotype": "protein_coding",
          "start": 42313299,
          "end": 42325064,
          "strand": "+",
          "slug": "tmem145"
        },
        {
          "symbol": "MEGF8",
          "ensemblId": "ENSG00000105429",
          "biotype": "protein_coding",
          "start": 42325518,
          "end": 42378769,
          "strand": "+",
          "slug": "megf8"
        },
        {
          "symbol": "CNFN",
          "ensemblId": "ENSG00000105427",
          "biotype": "protein_coding",
          "start": 42387019,
          "end": 42390299,
          "strand": "-",
          "slug": "cnfn"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "autoimmune-thrombocytopenia",
        "name": "Autoimmune thrombocytopenia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/autoimmune-thrombocytopenia"
      },
      {
        "slug": "complete-or-near-complete-absence-of-specific-antibody-response-to-tetanus-vaccine",
        "name": "Complete or near-complete absence of specific antibody response to tetanus vaccine",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/complete-or-near-complete-absence-of-specific-antibody-response-to-tetanus-vaccine"
      },
      {
        "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"
        ],
        "frequency": "obligate",
        "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": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-igm-concentration"
      },
      {
        "slug": "decreased-circulating-isohemagglutinin-concentration",
        "name": "Decreased circulating isohemagglutinin concentration",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-isohemagglutinin-concentration"
      },
      {
        "slug": "decreased-memory-b-cell-proportion",
        "name": "Decreased memory B cell proportion",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-memory-b-cell-proportion"
      },
      {
        "slug": "increased-transitional-b-cell-proportion",
        "name": "Increased transitional B cell proportion",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-transitional-b-cell-proportion"
      },
      {
        "slug": "decreased-total-b-cell-count",
        "name": "Low B cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-total-b-cell-count"
      },
      {
        "slug": "bronchiectasis",
        "name": "Permanent enlargement of the airways of the lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bronchiectasis"
      },
      {
        "slug": "recurrent-lower-respiratory-tract-infections",
        "name": "Recurrent chest infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-lower-respiratory-tract-infections"
      },
      {
        "slug": "recurrent-upper-respiratory-tract-infections",
        "name": "Recurrent colds",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-upper-respiratory-tract-infections"
      },
      {
        "slug": "severe-recurrent-varicella",
        "name": "Severe recurrent varicella",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severe-recurrent-varicella"
      },
      {
        "slug": "recurrent-herpes",
        "name": "Susceptibility to herpesvirus",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-herpes"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}