{
  "url": "https://dantelabs.com/lt/genes/adarb1",
  "gene": {
    "slug": "adarb1",
    "symbol": "ADARB1",
    "name": "adenosine deaminase RNA specific B1",
    "hgnc": "HGNC:226",
    "summary": null,
    "location": "21q22.3",
    "locusType": "gene with protein product",
    "aliases": [
      "ADAR2",
      "DRADA2",
      "ADAR2g",
      "DRABA2",
      "RED1",
      "hRED1",
      "ADAR2a-L1",
      "ADAR2a-L2",
      "ADAR2a-L3",
      "ADAR2a",
      "ADAR2b",
      "ADAR2c",
      "ADAR2d"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000197381",
    "entrezId": 104,
    "omim": [
      "601218"
    ],
    "uniprot": [
      "P78563"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "21",
      "start": 45074580,
      "end": 45226560,
      "strand": "+",
      "ensemblTranscript": "ENST00000348831.9",
      "refseqTranscript": "NM_001112.4",
      "ensemblProtein": "ENSP00000015877.6",
      "refseqProtein": "NP_001103.1",
      "exons": [
        {
          "start": 45074580,
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        {
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      ],
      "cds": {
        "start": 45171657,
        "end": 45222197
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "21",
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      "end": 46646478,
      "strand": "+"
    },
    "neighbourhood": {
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      "start": 44650570,
      "end": 45650569,
      "genes": [
        {
          "symbol": "TSPEAR",
          "ensemblId": "ENSG00000175894",
          "biotype": "protein_coding",
          "start": 44497893,
          "end": 44712286,
          "strand": "-",
          "slug": "tspear"
        },
        {
          "symbol": "KRTAP12-4",
          "ensemblId": "ENSG00000212933",
          "biotype": "protein_coding",
          "start": 44654213,
          "end": 44654659,
          "strand": "-",
          "slug": "krtap12-4"
        },
        {
          "symbol": "KRTAP12-3",
          "ensemblId": "ENSG00000205439",
          "biotype": "protein_coding",
          "start": 44657932,
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          "strand": "+",
          "slug": "krtap12-3"
        },
        {
          "symbol": "KRTAP12-2",
          "ensemblId": "ENSG00000221864",
          "biotype": "protein_coding",
          "start": 44666189,
          "end": 44666927,
          "strand": "-",
          "slug": "krtap12-2"
        },
        {
          "symbol": "KRTAP12-1",
          "ensemblId": "ENSG00000187175",
          "biotype": "protein_coding",
          "start": 44681576,
          "end": 44682163,
          "strand": "-",
          "slug": "krtap12-1"
        },
        {
          "symbol": "KRTAP10-12",
          "ensemblId": "ENSG00000189169",
          "biotype": "protein_coding",
          "start": 44697172,
          "end": 44698044,
          "strand": "+",
          "slug": "krtap10-12"
        },
        {
          "symbol": "UBE2G2",
          "ensemblId": "ENSG00000184787",
          "biotype": "protein_coding",
          "start": 44768580,
          "end": 44801826,
          "strand": "-",
          "slug": "ube2g2"
        },
        {
          "symbol": "SUMO3",
          "ensemblId": "ENSG00000184900",
          "biotype": "protein_coding",
          "start": 44805604,
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          "strand": "-",
          "slug": "sumo3"
        },
        {
          "symbol": "PTTG1IP",
          "ensemblId": "ENSG00000183255",
          "biotype": "protein_coding",
          "start": 44849585,
          "end": 44873903,
          "strand": "-",
          "slug": "pttg1ip"
        },
        {
          "symbol": "ITGB2",
          "ensemblId": "ENSG00000160255",
          "biotype": "protein_coding",
          "start": 44885948,
          "end": 44932079,
          "strand": "-",
          "slug": "itgb2"
        },
        {
          "symbol": "SLX9",
          "ensemblId": "ENSG00000160256",
          "biotype": "protein_coding",
          "start": 44939938,
          "end": 44977014,
          "strand": "+",
          "slug": "slx9"
        },
        {
          "symbol": "POFUT2",
          "ensemblId": "ENSG00000186866",
          "biotype": "protein_coding",
          "start": 45263019,
          "end": 45287898,
          "strand": "-",
          "slug": "pofut2"
        },
        {
          "symbol": "COL18A1",
          "ensemblId": "ENSG00000182871",
          "biotype": "protein_coding",
          "start": 45405118,
          "end": 45513721,
          "strand": "+",
          "slug": "col18a1"
        },
        {
          "symbol": "SLC19A1",
          "ensemblId": "ENSG00000173638",
          "biotype": "protein_coding",
          "start": 45493572,
          "end": 45573564,
          "strand": "-",
          "slug": "slc19a1"
        },
        {
          "symbol": "PCBP3",
          "ensemblId": "ENSG00000183570",
          "biotype": "protein_coding",
          "start": 45643661,
          "end": 45942454,
          "strand": "+",
          "slug": "pcbp3"
        }
      ],
      "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"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "absent-speech",
        "name": "Absent speech development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absent-speech"
      },
      {
        "slug": "plagiocephaly",
        "name": "Asymmetry of the posterior head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/plagiocephaly"
      },
      {
        "slug": "brachycephaly",
        "name": "Broad head shape",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/brachycephaly"
      },
      {
        "slug": "cerebral-visual-impairment",
        "name": "Cerebral visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebral-visual-impairment"
      },
      {
        "slug": "delayed-ability-to-walk",
        "name": "Delayed ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-ability-to-walk"
      },
      {
        "slug": "delayed-cns-myelination",
        "name": "Delayed CNS myelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-cns-myelination"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "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-anterior-hairline",
        "name": "High frontal hairline",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/high-anterior-hairline"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "increased-nuchal-translucency",
        "name": "Increased nuchal translucency",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-nuchal-translucency"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "interictal-epileptiform-activity",
        "name": "Interictal epileptiform activity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/interictal-epileptiform-activity"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "axial-hypotonia",
        "name": "Low muscle tone in trunk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/axial-hypotonia"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "exotropia",
        "name": "Outward facing eye ball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/exotropia"
      },
      {
        "slug": "oval-face",
        "name": "Oval face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/oval-face"
      },
      {
        "slug": "prominent-metopic-ridge",
        "name": "Prominent metopic ridge",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/prominent-metopic-ridge"
      },
      {
        "slug": "round-face",
        "name": "Round face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/round-face"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "laryngomalacia",
        "name": "Softening of voice box tissue",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/laryngomalacia"
      },
      {
        "slug": "temporal-cortical-atrophy",
        "name": "Temporal cortical atrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/temporal-cortical-atrophy"
      },
      {
        "slug": "thin-upper-lip-vermilion",
        "name": "Thin red part of the upper lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thin-upper-lip-vermilion"
      },
      {
        "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": "unilateral-cryptorchidism",
        "name": "Unilateral cryptorchidism",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/unilateral-cryptorchidism"
      },
      {
        "slug": "upslanted-palpebral-fissure",
        "name": "Upward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/upslanted-palpebral-fissure"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}