{
  "url": "https://dantelabs.com/hu/genes/naf1",
  "gene": {
    "slug": "naf1",
    "symbol": "NAF1",
    "name": "nuclear assembly factor 1 ribonucleoprotein",
    "hgnc": "HGNC:25126",
    "summary": null,
    "location": "4q32.2",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000145414",
    "entrezId": 92345,
    "omim": [
      "617868"
    ],
    "uniprot": [
      "Q96HR8"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "4",
      "start": 163128669,
      "end": 163166890,
      "strand": "-",
      "ensemblTranscript": "ENST00000274054.3",
      "refseqTranscript": "NM_138386.3",
      "ensemblProtein": "ENSP00000274054.2",
      "refseqProtein": "NP_612395.2",
      "exons": [
        {
          "start": 163128669,
          "end": 163129348
        },
        {
          "start": 163133154,
          "end": 163133256
        },
        {
          "start": 163137199,
          "end": 163137250
        },
        {
          "start": 163140223,
          "end": 163140383
        },
        {
          "start": 163145782,
          "end": 163145864
        },
        {
          "start": 163148341,
          "end": 163148434
        },
        {
          "start": 163164217,
          "end": 163164391
        },
        {
          "start": 163166363,
          "end": 163166890
        }
      ],
      "cds": {
        "start": 163128897,
        "end": 163166727
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "4",
      "start": 164031225,
      "end": 164088073,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 162647780,
      "end": 163647779,
      "genes": [
        {
          "symbol": "NPY1R",
          "ensemblId": "ENSG00000164128",
          "biotype": "protein_coding",
          "start": 163323085,
          "end": 163344852,
          "strand": "-",
          "slug": "npy1r"
        },
        {
          "symbol": "NPY5R",
          "ensemblId": "ENSG00000164129",
          "biotype": "protein_coding",
          "start": 163343260,
          "end": 163352477,
          "strand": "+",
          "slug": "npy5r"
        },
        {
          "symbol": "TKTL2",
          "ensemblId": "ENSG00000151005",
          "biotype": "protein_coding",
          "start": 163471095,
          "end": 163473754,
          "strand": "-",
          "slug": "tktl2"
        },
        {
          "symbol": "TMA16",
          "ensemblId": "ENSG00000198498",
          "biotype": "protein_coding",
          "start": 163494442,
          "end": 163527120,
          "strand": "+",
          "slug": "tma16"
        },
        {
          "symbol": "MARCHF1",
          "ensemblId": "ENSG00000145416",
          "biotype": "protein_coding",
          "start": 163524298,
          "end": 164384050,
          "strand": "-",
          "slug": "marchf1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "dyskeratosis-congenita",
        "name": "Dyskeratosis Congenita",
        "diseases": [
          {
            "mondoId": "MONDO:0100137",
            "name": "Telomere syndromes",
            "genes": 16,
            "inheritance": null,
            "description": "Disorders of short telomeres caused by variants in telomere-maintenance genes such as TERT, TERC, RTEL1 and PARN, which can cause bone marrow failure, lung fibrosis and liver disease even without classic skin signs.",
            "management": "Monitoring of blood counts, lungs and liver is advised, and the diagnosis informs donor selection and treatment choices for stem cell transplantation.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/dyskeratosis-congenita"
      },
      {
        "slug": "familial-pulmonary-fibrosis",
        "name": "Familial Pulmonary Fibrosis",
        "diseases": [
          {
            "mondoId": "MONDO:0000148",
            "name": "Telomere-related Pulmonary Fibrosis and/or Bone Marrow Failure",
            "genes": 7,
            "inheritance": null,
            "description": "Variants in telomere-maintenance genes such as TERT, TERC, RTEL1 and PARN can cause progressive pulmonary fibrosis in adulthood, sometimes together with bone marrow failure or liver disease.",
            "management": "Knowing can prompt earlier lung monitoring and treatment, screening for blood and liver involvement, care with immunosuppressive drugs around transplant, and careful selection of related donors.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/familial-pulmonary-fibrosis"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "decreased-total-lymphocyte-count",
        "name": "Decreased blood lymphocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-total-lymphocyte-count"
      },
      {
        "slug": "emphysema",
        "name": "Emphysema",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/emphysema"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "myelodysplasia",
        "name": "Myelodysplasia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myelodysplasia"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "nail-dystrophy",
        "name": "Poor nail formation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nail-dystrophy"
      },
      {
        "slug": "portal-hypertension",
        "name": "Portal hypertension",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/portal-hypertension"
      },
      {
        "slug": "premature-graying-of-hair",
        "name": "Premature graying of hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/premature-graying-of-hair"
      },
      {
        "slug": "pulmonary-fibrosis",
        "name": "Pulmonary scarring",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pulmonary-fibrosis"
      },
      {
        "slug": "squamous-cell-carcinoma-of-the-skin",
        "name": "Squamous cell carcinoma of the skin",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/squamous-cell-carcinoma-of-the-skin"
      },
      {
        "slug": "type-i-diabetes-mellitus",
        "name": "Type 1 diabetes",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/type-i-diabetes-mellitus"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      }
    ],
    "related": [
      {
        "slug": "parn",
        "symbol": "PARN",
        "name": "poly(A)-specific ribonuclease",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/parn"
      },
      {
        "slug": "pot1",
        "symbol": "POT1",
        "name": "protection of telomeres 1",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/pot1"
      },
      {
        "slug": "rpa1",
        "symbol": "RPA1",
        "name": "replication protein A1",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/rpa1"
      },
      {
        "slug": "rtel1",
        "symbol": "RTEL1",
        "name": "regulator of telomere elongation helicase 1",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/rtel1"
      },
      {
        "slug": "tert",
        "symbol": "TERT",
        "name": "telomerase reverse transcriptase",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/tert"
      },
      {
        "slug": "zcchc8",
        "symbol": "ZCCHC8",
        "name": "zinc finger CCHC-type containing 8",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/zcchc8"
      },
      {
        "slug": "acd",
        "symbol": "ACD",
        "name": "ACD shelterin complex subunit and telomerase recruitment factor",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/acd"
      },
      {
        "slug": "cdca7",
        "symbol": "CDCA7",
        "name": "cell division cycle associated 7",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cdca7"
      },
      {
        "slug": "ctc1",
        "symbol": "CTC1",
        "name": "CST telomere replication complex component 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ctc1"
      },
      {
        "slug": "dnmt3b",
        "symbol": "DNMT3B",
        "name": "DNA methyltransferase 3 beta",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/dnmt3b"
      },
      {
        "slug": "hells",
        "symbol": "HELLS",
        "name": "helicase, lymphoid specific",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/hells"
      },
      {
        "slug": "pola2",
        "symbol": "POLA2",
        "name": "DNA polymerase alpha 2, accessory subunit",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/pola2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}