{
  "url": "https://dantelabs.com/el/genes/svbp",
  "gene": {
    "slug": "svbp",
    "symbol": "SVBP",
    "name": "small vasohibin binding protein",
    "hgnc": "HGNC:29204",
    "summary": null,
    "location": "1p34.2",
    "locusType": "gene with protein product",
    "aliases": [
      "MGC45441"
    ],
    "previousSymbols": [
      "CCDC23"
    ],
    "ensemblId": "ENSG00000177868",
    "entrezId": 374969,
    "omim": [
      "617853"
    ],
    "uniprot": [
      "Q8N300"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 42807052,
      "end": 42817397,
      "strand": "-",
      "ensemblTranscript": "ENST00000372521.9",
      "refseqTranscript": "NM_199342.4",
      "ensemblProtein": "ENSP00000361599.4",
      "refseqProtein": "NP_955374.1",
      "exons": [
        {
          "start": 42807052,
          "end": 42807500
        },
        {
          "start": 42816431,
          "end": 42816580
        },
        {
          "start": 42817190,
          "end": 42817397
        }
      ],
      "cds": {
        "start": 42807414,
        "end": 42816544
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 43272723,
      "end": 43282954,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 42312225,
      "end": 43312224,
      "genes": [
        {
          "symbol": "FOXJ3",
          "ensemblId": "ENSG00000198815",
          "biotype": "protein_coding",
          "start": 42176535,
          "end": 42335913,
          "strand": "-",
          "slug": "foxj3"
        },
        {
          "symbol": "RIMKLA",
          "ensemblId": "ENSG00000177181",
          "biotype": "protein_coding",
          "start": 42380772,
          "end": 42424232,
          "strand": "+",
          "slug": "rimkla"
        },
        {
          "symbol": "ZMYND12",
          "ensemblId": "ENSG00000066185",
          "biotype": "protein_coding",
          "start": 42430315,
          "end": 42456253,
          "strand": "-",
          "slug": "zmynd12"
        },
        {
          "symbol": "PPCS",
          "ensemblId": "ENSG00000127125",
          "biotype": "protein_coding",
          "start": 42456117,
          "end": 42473417,
          "strand": "+",
          "slug": "ppcs"
        },
        {
          "symbol": "CCDC30",
          "ensemblId": "ENSG00000186409",
          "biotype": "protein_coding",
          "start": 42463221,
          "end": 42657190,
          "strand": "+",
          "slug": "ccdc30"
        },
        {
          "symbol": "PPIH",
          "ensemblId": "ENSG00000171960",
          "biotype": "protein_coding",
          "start": 42658185,
          "end": 42676758,
          "strand": "+",
          "slug": "ppih"
        },
        {
          "symbol": "YBX1",
          "ensemblId": "ENSG00000065978",
          "biotype": "protein_coding",
          "start": 42682144,
          "end": 42703805,
          "strand": "+",
          "slug": "ybx1"
        },
        {
          "symbol": "CLDN19",
          "ensemblId": "ENSG00000164007",
          "biotype": "protein_coding",
          "start": 42733093,
          "end": 42740286,
          "strand": "-",
          "slug": "cldn19"
        },
        {
          "symbol": "P3H1",
          "ensemblId": "ENSG00000117385",
          "biotype": "protein_coding",
          "start": 42746335,
          "end": 42767084,
          "strand": "-",
          "slug": "p3h1"
        },
        {
          "symbol": "C1orf50",
          "ensemblId": "ENSG00000164008",
          "biotype": "protein_coding",
          "start": 42767245,
          "end": 42781980,
          "strand": "+",
          "slug": "c1orf50"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000283580",
          "biotype": "protein_coding",
          "start": 42767292,
          "end": 42794493,
          "strand": "+"
        },
        {
          "symbol": "TMEM269",
          "ensemblId": "ENSG00000274386",
          "biotype": "protein_coding",
          "start": 42784991,
          "end": 42816619,
          "strand": "+",
          "slug": "tmem269"
        },
        {
          "symbol": "ERMAP",
          "ensemblId": "ENSG00000164010",
          "biotype": "protein_coding",
          "start": 42817078,
          "end": 42845920,
          "strand": "+",
          "slug": "ermap"
        },
        {
          "symbol": "ZNF691",
          "ensemblId": "ENSG00000164011",
          "biotype": "protein_coding",
          "start": 42846573,
          "end": 42854023,
          "strand": "+",
          "slug": "znf691"
        },
        {
          "symbol": "SLC2A1",
          "ensemblId": "ENSG00000117394",
          "biotype": "protein_coding",
          "start": 42925353,
          "end": 42958904,
          "strand": "-",
          "slug": "slc2a1"
        },
        {
          "symbol": "CFAP144",
          "ensemblId": "ENSG00000186973",
          "biotype": "protein_coding",
          "start": 43145153,
          "end": 43156396,
          "strand": "+",
          "slug": "cfap144"
        },
        {
          "symbol": "EBNA1BP2",
          "ensemblId": "ENSG00000117395",
          "biotype": "protein_coding",
          "start": 43162085,
          "end": 43270936,
          "strand": "-",
          "slug": "ebna1bp2"
        },
        {
          "symbol": "CFAP57",
          "ensemblId": "ENSG00000243710",
          "biotype": "protein_coding",
          "start": 43172326,
          "end": 43254358,
          "strand": "+",
          "slug": "cfap57"
        },
        {
          "symbol": "TMEM125",
          "ensemblId": "ENSG00000179178",
          "biotype": "protein_coding",
          "start": 43269976,
          "end": 43274007,
          "strand": "+",
          "slug": "tmem125"
        },
        {
          "symbol": "C1orf210",
          "ensemblId": "ENSG00000253313",
          "biotype": "protein_coding",
          "start": 43281271,
          "end": 43285908,
          "strand": "-",
          "slug": "c1orf210"
        },
        {
          "symbol": "TIE1",
          "ensemblId": "ENSG00000066056",
          "biotype": "protein_coding",
          "start": 43300958,
          "end": 43325215,
          "strand": "+",
          "slug": "tie1"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "autistic-behavior",
        "name": "Autism spectrum disorder",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/autistic-behavior"
      },
      {
        "slug": "coarse-facial-features",
        "name": "Coarse facial features",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/coarse-facial-features"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "dry-hair",
        "name": "Dry hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dry-hair"
      },
      {
        "slug": "dysplastic-corpus-callosum",
        "name": "Dysplastic corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysplastic-corpus-callosum"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "bimanual-synkinesia",
        "name": "Hand mirror movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bimanual-synkinesia"
      },
      {
        "slug": "head-banging",
        "name": "Head-banging",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/head-banging"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "intrinsic-hand-muscle-atrophy",
        "name": "Intrinsic hand muscle atrophy",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intrinsic-hand-muscle-atrophy"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "low-anterior-hairline",
        "name": "Low frontal hairline",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/low-anterior-hairline"
      },
      {
        "slug": "mongolian-blue-spot",
        "name": "Mongolian blue spot",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mongolian-blue-spot"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "muscular-ventricular-septal-defect",
        "name": "Muscular ventricular septal defect",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/muscular-ventricular-septal-defect"
      },
      {
        "slug": "prominent-forehead",
        "name": "Prominent forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/prominent-forehead"
      },
      {
        "slug": "status-epilepticus",
        "name": "Repeated seizures without recovery between them",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/status-epilepticus"
      },
      {
        "slug": "short-3rd-toe",
        "name": "Short 3rd toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-3rd-toe"
      },
      {
        "slug": "short-4th-toe",
        "name": "Short 4th toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-4th-toe"
      },
      {
        "slug": "short-thumb",
        "name": "Short thumb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-thumb"
      },
      {
        "slug": "short-3rd-metacarpal",
        "name": "Shortened 3rd long bone of hand",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-3rd-metacarpal"
      },
      {
        "slug": "short-4th-metacarpal",
        "name": "Shortened 4th long bone of hand",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-4th-metacarpal"
      },
      {
        "slug": "short-5th-metacarpal",
        "name": "Shortened 5th long bone of hand",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-5th-metacarpal"
      },
      {
        "slug": "preauricular-skin-tag",
        "name": "Skin tag in front of the ear",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/preauricular-skin-tag"
      },
      {
        "slug": "split-hand",
        "name": "Split hand",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/split-hand"
      },
      {
        "slug": "tapered-finger",
        "name": "Tapered finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tapered-finger"
      },
      {
        "slug": "hypothyroidism",
        "name": "Underactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypothyroidism"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "2-4-toe-cutaneous-syndactyly",
        "name": "Webbed 2nd, 3rd and 4th toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/2-4-toe-cutaneous-syndactyly"
      },
      {
        "slug": "wide-nasal-bridge",
        "name": "Wide nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/wide-nasal-bridge"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}