{
  "url": "https://dantelabs.com/et/genes/pus1",
  "gene": {
    "slug": "pus1",
    "symbol": "PUS1",
    "name": "pseudouridine synthase 1",
    "hgnc": "HGNC:15508",
    "summary": null,
    "location": "12q24.33",
    "locusType": "gene with protein product",
    "aliases": [
      "MLASA1"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000177192",
    "entrezId": 80324,
    "omim": [
      "608109"
    ],
    "uniprot": [
      "Q9Y606"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "12",
      "start": 131929276,
      "end": 131945896,
      "strand": "+",
      "ensemblTranscript": "ENST00000376649.8",
      "refseqTranscript": "NM_025215.6",
      "ensemblProtein": "ENSP00000365837.3",
      "refseqProtein": "NP_079491.2",
      "exons": [
        {
          "start": 131929276,
          "end": 131929796
        },
        {
          "start": 131929907,
          "end": 131930135
        },
        {
          "start": 131932175,
          "end": 131932312
        },
        {
          "start": 131939173,
          "end": 131939275
        },
        {
          "start": 131941292,
          "end": 131941983
        },
        {
          "start": 131943539,
          "end": 131945896
        }
      ],
      "cds": {
        "start": 131929723,
        "end": 131943586
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "12",
      "start": 132413745,
      "end": 132428406,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 131437586,
      "end": 132437585,
      "genes": [
        {
          "symbol": "SFSWAP",
          "ensemblId": "ENSG00000061936",
          "biotype": "protein_coding",
          "start": 131711079,
          "end": 131799738,
          "strand": "+",
          "slug": "sfswap"
        },
        {
          "symbol": "MMP17",
          "ensemblId": "ENSG00000198598",
          "biotype": "protein_coding",
          "start": 131828393,
          "end": 131853860,
          "strand": "+",
          "slug": "mmp17"
        },
        {
          "symbol": "ULK1",
          "ensemblId": "ENSG00000177169",
          "biotype": "protein_coding",
          "start": 131894596,
          "end": 131923161,
          "strand": "+",
          "slug": "ulk1"
        },
        {
          "symbol": "EP400",
          "ensemblId": "ENSG00000183495",
          "biotype": "protein_coding",
          "start": 131949798,
          "end": 132080460,
          "strand": "+",
          "slug": "ep400"
        },
        {
          "symbol": "DDX51",
          "ensemblId": "ENSG00000185163",
          "biotype": "protein_coding",
          "start": 132136591,
          "end": 132144354,
          "strand": "-",
          "slug": "ddx51"
        },
        {
          "symbol": "NOC4L",
          "ensemblId": "ENSG00000184967",
          "biotype": "protein_coding",
          "start": 132144408,
          "end": 132152473,
          "strand": "+",
          "slug": "noc4l"
        },
        {
          "symbol": "GALNT9",
          "ensemblId": "ENSG00000182870",
          "biotype": "protein_coding",
          "start": 132195855,
          "end": 132329616,
          "strand": "-",
          "slug": "galnt9"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-sideroblastic-anaemias",
        "name": "Pärilikud sideroblastsed aneemiad",
        "diseases": [
          {
            "mondoId": "MONDO:0020099",
            "name": "Pärilik sideroblastne aneemia",
            "genes": 8,
            "inheritance": null,
            "description": "Haiguste rühm, mida põhjustavad muutused geenides nagu ALAS2 ja ABCB7 (X-seotud), SLC25A38, GLRX5, PUS1, YARS2 ja TRNT1 (retsessiivsed) ning HSPA9 (dominantne); mõned vormid mõjutavad ka lihaseid, närvisüsteemi või immuunsüsteemi.",
            "management": "X-seotud ALAS2 vorm reageerib sageli vitamiin B6-le (püridoksiinile) ning diagnoos juhib rauaülekoormuse jälgimist ja eristab neid haigusi omandatud müelodüsplastilisest sündroomist.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/et/conditions/hereditary-sideroblastic-anaemias"
      }
    ],
    "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": "frequent",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "cytochrome-c-oxidase-negative-muscle-fibers",
        "name": "Cytochrome C oxidase-negative muscle fibers",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cytochrome-c-oxidase-negative-muscle-fibers"
      },
      {
        "slug": "decreased-activity-of-mitochondrial-complex-i",
        "name": "Decreased activity of mitochondrial complex I",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-i"
      },
      {
        "slug": "decreased-activity-of-mitochondrial-complex-iv",
        "name": "Decreased activity of mitochondrial complex IV",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-iv"
      },
      {
        "slug": "delayed-puberty",
        "name": "Delayed puberty",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-puberty"
      },
      {
        "slug": "distichiasis",
        "name": "Distichiasis",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/distichiasis"
      },
      {
        "slug": "joint-hypermobility",
        "name": "Double-Jointed",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/joint-hypermobility"
      },
      {
        "slug": "increased-circulating-ferritin-concentration",
        "name": "Elevated serum ferritin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/increased-circulating-ferritin-concentration"
      },
      {
        "slug": "emg-abnormality",
        "name": "EMG abnormality",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/emg-abnormality"
      },
      {
        "slug": "erythroid-hyperplasia",
        "name": "Erythroid hyperplasia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/erythroid-hyperplasia"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "depressed-nasal-ridge",
        "name": "Flat nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/depressed-nasal-ridge"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "generalized-limb-muscle-atrophy",
        "name": "Generalized muscle wasting",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/generalized-limb-muscle-atrophy"
      },
      {
        "slug": "glaucoma",
        "name": "Glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/glaucoma"
      },
      {
        "slug": "gowers-sign",
        "name": "Gowers sign",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gowers-sign"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "increased-circulating-lactate-concentration",
        "name": "Higher than normal levels of lactate in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration"
      },
      {
        "slug": "kyphosis",
        "name": "Hunched back",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/kyphosis"
      },
      {
        "slug": "hypochromic-anemia",
        "name": "Hypochromic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/hypochromic-anemia"
      },
      {
        "slug": "hypopituitarism",
        "name": "Hypopituitarism",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypopituitarism"
      },
      {
        "slug": "lactic-acidosis",
        "name": "Increased lactate in body",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/lactic-acidosis"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "abnormality-of-metabolism-homeostasis",
        "name": "Laboratory abnormality",
        "systems": [],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-metabolism-homeostasis"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "long-philtrum",
        "name": "Long philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/long-philtrum"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "microcytic-anemia",
        "name": "Microcytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/microcytic-anemia"
      },
      {
        "slug": "mitochondrial-myopathy",
        "name": "Mitochondrial myopathy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/mitochondrial-myopathy"
      },
      {
        "slug": "myopathy",
        "name": "Muscle tissue disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/myopathy"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "pallor",
        "name": "Paleness",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/pallor"
      },
      {
        "slug": "pappenheimer-bodies",
        "name": "Pappenheimer bodies",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/pappenheimer-bodies"
      },
      {
        "slug": "pigmentary-retinopathy",
        "name": "Pigmentary retinopathy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pigmentary-retinopathy"
      },
      {
        "slug": "progressive-muscle-weakness",
        "name": "Progressive muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/progressive-muscle-weakness"
      },
      {
        "slug": "hyperlordosis",
        "name": "Prominent swayback",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperlordosis"
      },
      {
        "slug": "ragged-red-muscle-fibers",
        "name": "Ragged-red muscle fibers",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ragged-red-muscle-fibers"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "short-nose",
        "name": "Short nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-nose"
      },
      {
        "slug": "sideroblastic-anemia",
        "name": "Sideroblastic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sideroblastic-anemia"
      },
      {
        "slug": "restrictive-ventilatory-defect",
        "name": "Stiff lung or chest wall causing decreased lung volume",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/restrictive-ventilatory-defect"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertelorism"
      },
      {
        "slug": "scapular-winging",
        "name": "Winged shoulder blade",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scapular-winging"
      }
    ],
    "related": [
      {
        "slug": "abcb7",
        "symbol": "ABCB7",
        "name": "ATP binding cassette subfamily B member 7",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/abcb7"
      },
      {
        "slug": "alas2",
        "symbol": "ALAS2",
        "name": "5'-aminolevulinate synthase 2",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/alas2"
      },
      {
        "slug": "glrx5",
        "symbol": "GLRX5",
        "name": "glutaredoxin 5",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/glrx5"
      },
      {
        "slug": "hspa9",
        "symbol": "HSPA9",
        "name": "heat shock protein family A (Hsp70) member 9",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/hspa9"
      },
      {
        "slug": "slc25a38",
        "symbol": "SLC25A38",
        "name": "solute carrier family 25 member 38",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/slc25a38"
      },
      {
        "slug": "trnt1",
        "symbol": "TRNT1",
        "name": "tRNA nucleotidyl transferase 1",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/trnt1"
      },
      {
        "slug": "yars2",
        "symbol": "YARS2",
        "name": "tyrosyl-tRNA synthetase 2",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/yars2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}