{
  "url": "https://dantelabs.com/pt/genes/scaf4",
  "gene": {
    "slug": "scaf4",
    "symbol": "SCAF4",
    "name": "SR-related CTD associated factor 4",
    "hgnc": "HGNC:19304",
    "summary": null,
    "location": "21q22.11",
    "locusType": "gene with protein product",
    "aliases": [
      "KIAA1172",
      "DKFZp434E098",
      "SRA4"
    ],
    "previousSymbols": [
      "SFRS15"
    ],
    "ensemblId": "ENSG00000156304",
    "entrezId": 57466,
    "omim": [
      "616023"
    ],
    "uniprot": [
      "O95104"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "21",
      "start": 31671000,
      "end": 31732118,
      "strand": "-",
      "ensemblTranscript": "ENST00000286835.12",
      "refseqTranscript": "NM_020706.2",
      "ensemblProtein": "ENSP00000286835.7",
      "refseqProtein": "NP_065757.1",
      "exons": [
        {
          "start": 31671000,
          "end": 31672354
        },
        {
          "start": 31685049,
          "end": 31685240
        },
        {
          "start": 31685398,
          "end": 31685484
        },
        {
          "start": 31685568,
          "end": 31685733
        },
        {
          "start": 31688307,
          "end": 31688464
        },
        {
          "start": 31690797,
          "end": 31690953
        },
        {
          "start": 31691817,
          "end": 31691930
        },
        {
          "start": 31692349,
          "end": 31692449
        },
        {
          "start": 31693294,
          "end": 31693484
        },
        {
          "start": 31694204,
          "end": 31694289
        },
        {
          "start": 31694813,
          "end": 31694980
        },
        {
          "start": 31696113,
          "end": 31696221
        },
        {
          "start": 31696569,
          "end": 31696750
        },
        {
          "start": 31700995,
          "end": 31701171
        },
        {
          "start": 31701776,
          "end": 31701918
        },
        {
          "start": 31702244,
          "end": 31702379
        },
        {
          "start": 31703765,
          "end": 31703926
        },
        {
          "start": 31705423,
          "end": 31705467
        },
        {
          "start": 31706274,
          "end": 31706357
        },
        {
          "start": 31731663,
          "end": 31732118
        }
      ],
      "cds": {
        "start": 31671399,
        "end": 31731692
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "21",
      "start": 33043346,
      "end": 33104388,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 31201559,
      "end": 32201558,
      "genes": [
        {
          "symbol": "TIAM1",
          "ensemblId": "ENSG00000156299",
          "biotype": "protein_coding",
          "start": 31117985,
          "end": 31559977,
          "strand": "-",
          "slug": "tiam1"
        },
        {
          "symbol": "SOD1",
          "ensemblId": "ENSG00000142168",
          "biotype": "protein_coding",
          "start": 31659617,
          "end": 31668931,
          "strand": "+",
          "slug": "sod1"
        },
        {
          "symbol": "HUNK",
          "ensemblId": "ENSG00000142149",
          "biotype": "protein_coding",
          "start": 31872805,
          "end": 32044633,
          "strand": "+",
          "slug": "hunk"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "tracheoesophageal-fistula",
        "name": "Abnormal connection between trachea and esophagus",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tracheoesophageal-fistula"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "anal-atresia",
        "name": "Absent anus",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anal-atresia"
      },
      {
        "slug": "unilateral-renal-agenesis",
        "name": "Absent kidney on one side",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/unilateral-renal-agenesis"
      },
      {
        "slug": "aggressive-behavior",
        "name": "Aggressive behavior",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aggressive-behavior"
      },
      {
        "slug": "bicuspid-aortic-valve",
        "name": "Aortic valve has two leaflets rather than three",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bicuspid-aortic-valve"
      },
      {
        "slug": "autistic-behavior",
        "name": "Autism spectrum disorder",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/autistic-behavior"
      },
      {
        "slug": "bulbous-nose",
        "name": "Bulbous nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bulbous-nose"
      },
      {
        "slug": "hallux-valgus",
        "name": "Bunion",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hallux-valgus"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "delayed-ability-to-walk",
        "name": "Delayed ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-ability-to-walk"
      },
      {
        "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": "joint-hypermobility",
        "name": "Double-Jointed",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/joint-hypermobility"
      },
      {
        "slug": "pes-planus",
        "name": "Dropped arches",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pes-planus"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "esodeviation",
        "name": "Esodeviation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/esodeviation"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "pectus-excavatum",
        "name": "Funnel chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pectus-excavatum"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "ventricular-septal-defect",
        "name": "Hole in heart wall separating two lower heart chambers",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ventricular-septal-defect"
      },
      {
        "slug": "kyphosis",
        "name": "Hunched back",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/kyphosis"
      },
      {
        "slug": "hydronephrosis",
        "name": "Hydronephrosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hydronephrosis"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "long-philtrum",
        "name": "Long philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/long-philtrum"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "meningocele",
        "name": "Meningocele",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/meningocele"
      },
      {
        "slug": "multicystic-kidney-dysplasia",
        "name": "Multicystic kidney dysplasia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/multicystic-kidney-dysplasia"
      },
      {
        "slug": "obesity",
        "name": "Obesity",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/obesity"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "self-injurious-behavior",
        "name": "Self-injurious behavior",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/self-injurious-behavior"
      },
      {
        "slug": "hypertonia",
        "name": "Spasticity and rigidity of muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertonia"
      },
      {
        "slug": "tethered-cord",
        "name": "Tethered cord",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tethered-cord"
      },
      {
        "slug": "hypoplastic-aortic-arch",
        "name": "Underdeveloped aortic arch",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplastic-aortic-arch"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}