{
  "url": "https://dantelabs.com/pt/genes/pus3",
  "gene": {
    "slug": "pus3",
    "symbol": "PUS3",
    "name": "pseudouridine synthase 3",
    "hgnc": "HGNC:25461",
    "summary": null,
    "location": "11q24.2",
    "locusType": "gene with protein product",
    "aliases": [
      "FKSG32",
      "DEG1"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000110060",
    "entrezId": 83480,
    "omim": [
      "616283"
    ],
    "uniprot": [
      "Q9BZE2"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "11",
      "start": 125893485,
      "end": 125903206,
      "strand": "-",
      "ensemblTranscript": "ENST00000227474.8",
      "refseqTranscript": "NM_031307.4",
      "ensemblProtein": "ENSP00000227474.3",
      "refseqProtein": "NP_112597.4",
      "exons": [
        {
          "start": 125893485,
          "end": 125894286
        },
        {
          "start": 125895224,
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        {
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        },
        {
          "start": 125903170,
          "end": 125903206
        }
      ],
      "cds": {
        "start": 125893785,
        "end": 125896284
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "11",
      "start": 125763381,
      "end": 125773116,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 125398346,
      "end": 126398345,
      "genes": [
        {
          "symbol": "PKNOX2",
          "ensemblId": "ENSG00000165495",
          "biotype": "protein_coding",
          "start": 125164537,
          "end": 125434287,
          "strand": "+",
          "slug": "pknox2"
        },
        {
          "symbol": "FEZ1",
          "ensemblId": "ENSG00000149557",
          "biotype": "protein_coding",
          "start": 125442881,
          "end": 125592578,
          "strand": "-",
          "slug": "fez1"
        },
        {
          "symbol": "EI24",
          "ensemblId": "ENSG00000149547",
          "biotype": "protein_coding",
          "start": 125536608,
          "end": 125585035,
          "strand": "+",
          "slug": "ei24"
        },
        {
          "symbol": "STT3A",
          "ensemblId": "ENSG00000134910",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "stt3a"
        },
        {
          "symbol": "CHEK1",
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          "biotype": "protein_coding",
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          "end": 125676255,
          "strand": "+",
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        },
        {
          "symbol": "ACRV1",
          "ensemblId": "ENSG00000134940",
          "biotype": "protein_coding",
          "start": 125671522,
          "end": 125680874,
          "strand": "-",
          "slug": "acrv1"
        },
        {
          "symbol": "PATE1",
          "ensemblId": "ENSG00000171053",
          "biotype": "protein_coding",
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          "end": 125749867,
          "strand": "+",
          "slug": "pate1"
        },
        {
          "symbol": "PATE2",
          "ensemblId": "ENSG00000196844",
          "biotype": "protein_coding",
          "start": 125776113,
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          "strand": "-",
          "slug": "pate2"
        },
        {
          "symbol": "PATE3",
          "ensemblId": "ENSG00000236027",
          "biotype": "protein_coding",
          "start": 125788127,
          "end": 125791600,
          "strand": "+",
          "slug": "pate3"
        },
        {
          "symbol": "PATE4",
          "ensemblId": "ENSG00000237353",
          "biotype": "protein_coding",
          "start": 125833316,
          "end": 125840072,
          "strand": "+",
          "slug": "pate4"
        },
        {
          "symbol": "HYLS1",
          "ensemblId": "ENSG00000198331",
          "biotype": "protein_coding",
          "start": 125883614,
          "end": 125900846,
          "strand": "+",
          "slug": "hyls1"
        },
        {
          "symbol": "DDX25",
          "ensemblId": "ENSG00000109832",
          "biotype": "protein_coding",
          "start": 125903348,
          "end": 125943702,
          "strand": "+",
          "slug": "ddx25"
        },
        {
          "symbol": "VSIG10L2",
          "ensemblId": "ENSG00000283703",
          "biotype": "protein_coding",
          "start": 125946044,
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          "strand": "+",
          "slug": "vsig10l2"
        },
        {
          "symbol": "CDON",
          "ensemblId": "ENSG00000064309",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "cdon"
        },
        {
          "symbol": "RPUSD4",
          "ensemblId": "ENSG00000165526",
          "biotype": "protein_coding",
          "start": 126201792,
          "end": 126211692,
          "strand": "-",
          "slug": "rpusd4"
        },
        {
          "symbol": "SIRAL1",
          "ensemblId": "ENSG00000197798",
          "biotype": "protein_coding",
          "start": 126211687,
          "end": 126265162,
          "strand": "+",
          "slug": "siral1"
        },
        {
          "symbol": "SRPRA",
          "ensemblId": "ENSG00000182934",
          "biotype": "protein_coding",
          "start": 126255132,
          "end": 126269144,
          "strand": "-",
          "slug": "srpra"
        },
        {
          "symbol": "FOXRED1",
          "ensemblId": "ENSG00000110074",
          "biotype": "protein_coding",
          "start": 126269024,
          "end": 126281756,
          "strand": "+",
          "slug": "foxred1"
        },
        {
          "symbol": "TIRAP",
          "ensemblId": "ENSG00000150455",
          "biotype": "protein_coding",
          "start": 126282497,
          "end": 126298845,
          "strand": "+",
          "slug": "tirap"
        },
        {
          "symbol": "DCPS",
          "ensemblId": "ENSG00000110063",
          "biotype": "protein_coding",
          "start": 126303971,
          "end": 126350005,
          "strand": "+",
          "slug": "dcps"
        },
        {
          "symbol": "ST3GAL4",
          "ensemblId": "ENSG00000110080",
          "biotype": "protein_coding",
          "start": 126354677,
          "end": 126442293,
          "strand": "+",
          "slug": "st3gal4"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "gait-imbalance",
        "name": "Abnormality of balance",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gait-imbalance"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "absent-speech",
        "name": "Absent speech development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/absent-speech"
      },
      {
        "slug": "aggressive-behavior",
        "name": "Aggressive behavior",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aggressive-behavior"
      },
      {
        "slug": "bilateral-tonic-clonic-seizure-with-focal-onset",
        "name": "Bilateral tonic-clonic seizure with focal onset",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure-with-focal-onset"
      },
      {
        "slug": "cyanosis",
        "name": "Blue discoloration of the skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cyanosis"
      },
      {
        "slug": "blue-nevus",
        "name": "Blue nevus",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/blue-nevus"
      },
      {
        "slug": "blue-sclerae",
        "name": "Blue outer white part of eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/blue-sclerae"
      },
      {
        "slug": "chronic-kidney-disease",
        "name": "Chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chronic-kidney-disease"
      },
      {
        "slug": "coarse-facial-features",
        "name": "Coarse facial features",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/coarse-facial-features"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "cerebral-cortical-atrophy",
        "name": "Decrease in size of the outer layer of the brain due to loss of brain cells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebral-cortical-atrophy"
      },
      {
        "slug": "decreased-glomerular-filtration-rate",
        "name": "Decreased glomerular filtration rate",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-glomerular-filtration-rate"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "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": "very-frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "failure-to-thrive-in-infancy",
        "name": "Faltering weight in infancy",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive-in-infancy"
      },
      {
        "slug": "arachnoid-cyst",
        "name": "Fluid-filled sac located in membrane surrounding brain or spinal cord",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/arachnoid-cyst"
      },
      {
        "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": "proteinuria",
        "name": "High urine protein levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/proteinuria"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "severe-intellectual-disability",
        "name": "Intellectual disability, severe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/severe-intellectual-disability"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "profound-intellectual-disability",
        "name": "IQ less than 20",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/profound-intellectual-disability"
      },
      {
        "slug": "genu-valgum",
        "name": "Knock knees",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/genu-valgum"
      },
      {
        "slug": "lateral-ventricle-dilatation",
        "name": "Lateral ventricle dilatation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lateral-ventricle-dilatation"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "multifocal-cerebral-white-matter-abnormalities",
        "name": "Multifocal cerebral white matter abnormalities",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/multifocal-cerebral-white-matter-abnormalities"
      },
      {
        "slug": "multifocal-hyperintensity-of-cerebral-white-matter-on-mri",
        "name": "Multifocal hyperintensity of cerebral white matter on MRI",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/multifocal-hyperintensity-of-cerebral-white-matter-on-mri"
      },
      {
        "slug": "nephrotic-syndrome",
        "name": "Nephrotic syndrome",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nephrotic-syndrome"
      },
      {
        "slug": "reduced-social-responsiveness",
        "name": "Poor social interactions",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-social-responsiveness"
      },
      {
        "slug": "poor-speech",
        "name": "Poor speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/poor-speech"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "progressive-microcephaly",
        "name": "Progressively abnormally small cranium",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/progressive-microcephaly"
      },
      {
        "slug": "pseudobulbar-affect",
        "name": "Pseudobulbar affect",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pseudobulbar-affect"
      },
      {
        "slug": "psychosis",
        "name": "Psychosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/psychosis"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "tubulointerstitial-nephritis",
        "name": "Tubulointerstitial nephritis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tubulointerstitial-nephritis"
      },
      {
        "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"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      },
      {
        "slug": "visual-hallucination",
        "name": "Visual hallucinations",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/visual-hallucination"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/visual-impairment"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}