{
  "url": "https://dantelabs.com/it/genes/sh3kbp1",
  "gene": {
    "slug": "sh3kbp1",
    "symbol": "SH3KBP1",
    "name": "SH3 domain containing kinase binding protein 1",
    "hgnc": "HGNC:13867",
    "summary": null,
    "location": "Xp22.12",
    "locusType": "gene with protein product",
    "aliases": [
      "CIN85"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000147010",
    "entrezId": 30011,
    "omim": [
      "300374"
    ],
    "uniprot": [
      "Q96B97"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "X",
      "start": 19533977,
      "end": 19887600,
      "strand": "-",
      "ensemblTranscript": "ENST00000397821.8",
      "refseqTranscript": "NM_031892.3",
      "ensemblProtein": "ENSP00000380921.3",
      "refseqProtein": "NP_114098.1",
      "exons": [
        {
          "start": 19533977,
          "end": 19536458
        },
        {
          "start": 19537717,
          "end": 19537780
        },
        {
          "start": 19541925,
          "end": 19542193
        },
        {
          "start": 19545922,
          "end": 19546050
        },
        {
          "start": 19549974,
          "end": 19550083
        },
        {
          "start": 19569103,
          "end": 19569188
        },
        {
          "start": 19588643,
          "end": 19588802
        },
        {
          "start": 19592067,
          "end": 19592147
        },
        {
          "start": 19594949,
          "end": 19595000
        },
        {
          "start": 19607938,
          "end": 19608045
        },
        {
          "start": 19631864,
          "end": 19631958
        },
        {
          "start": 19645400,
          "end": 19645475
        },
        {
          "start": 19683823,
          "end": 19684028
        },
        {
          "start": 19695612,
          "end": 19695741
        },
        {
          "start": 19706881,
          "end": 19706984
        },
        {
          "start": 19746318,
          "end": 19746441
        },
        {
          "start": 19836125,
          "end": 19836282
        },
        {
          "start": 19887307,
          "end": 19887600
        }
      ],
      "cds": {
        "start": 19536417,
        "end": 19887310
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "X",
      "start": 19552093,
      "end": 19905719,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 19180353,
      "end": 20241224,
      "genes": [
        {
          "symbol": "PDHA1",
          "ensemblId": "ENSG00000131828",
          "biotype": "protein_coding",
          "start": 19343893,
          "end": 19361718,
          "strand": "+",
          "slug": "pdha1"
        },
        {
          "symbol": "MAP3K15",
          "ensemblId": "ENSG00000180815",
          "biotype": "protein_coding",
          "start": 19360056,
          "end": 19515513,
          "strand": "-",
          "slug": "map3k15"
        },
        {
          "symbol": "BCLAF3",
          "ensemblId": "ENSG00000173681",
          "biotype": "protein_coding",
          "start": 19912860,
          "end": 19991097,
          "strand": "-",
          "slug": "bclaf3"
        },
        {
          "symbol": "MAP7D2",
          "ensemblId": "ENSG00000184368",
          "biotype": "protein_coding",
          "start": 20006713,
          "end": 20117065,
          "strand": "-",
          "slug": "map7d2"
        },
        {
          "symbol": "EIF1AX",
          "ensemblId": "ENSG00000173674",
          "biotype": "protein_coding",
          "start": 20124519,
          "end": 20141982,
          "strand": "-",
          "slug": "eif1ax"
        },
        {
          "symbol": "RPS6KA3",
          "ensemblId": "ENSG00000177189",
          "biotype": "protein_coding",
          "start": 20149911,
          "end": 20267519,
          "strand": "-",
          "slug": "rps6ka3"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "attention-deficit-hyperactivity-disorder",
        "name": "Attention deficit",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/attention-deficit-hyperactivity-disorder"
      },
      {
        "slug": "decreased-circulating-igg2-concentration",
        "name": "Decreased circulating IgG2 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-igg2-concentration"
      },
      {
        "slug": "decreased-circulating-igg4-concentration",
        "name": "Decreased circulating IgG4 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-igg4-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": "obesity",
        "name": "Obesity",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/obesity"
      },
      {
        "slug": "recurrent-bacterial-infections",
        "name": "Recurrent bacterial infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-bacterial-infections"
      },
      {
        "slug": "recurrent-otitis-media",
        "name": "Recurrent middle ear infection",
        "systems": [
          "abnormality-of-the-ear",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-otitis-media"
      },
      {
        "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"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}