{ "url": "https://dantelabs.com/de/genes/rpa1", "gene": { "slug": "rpa1", "symbol": "RPA1", "name": "replication protein A1", "hgnc": "HGNC:10289", "summary": null, "location": "17p13.3", "locusType": "gene with protein product", "aliases": [ "REPA1", "RPA70", "HSSB", "RF-A", "RP-A" ], "previousSymbols": [], "ensemblId": "ENSG00000132383", "entrezId": 6117, "omim": [ "179835" ], "uniprot": [ "P27694" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "17", "start": 1830005, "end": 1900082, "strand": "+", "ensemblTranscript": "ENST00000254719.10", "refseqTranscript": "NM_002945.5", "ensemblProtein": "ENSP00000254719.4", "refseqProtein": "NP_002936.1", "exons": [ { "start": 1830005, "end": 1830126 }, { "start": 1842803, "end": 1842853 }, { "start": 1843920, "end": 1843998 }, { "start": 1844578, "end": 1844686 }, { "start": 1853101, "end": 1853189 }, { "start": 1872434, "end": 1872526 }, { "start": 1875661, "end": 1875793 }, { "start": 1877212, "end": 1877314 }, { "start": 1878993, "end": 1879061 }, { "start": 1879215, "end": 1879407 }, { "start": 1879560, "end": 1879699 }, { "start": 1880543, "end": 1880691 }, { "start": 1883812, "end": 1883944 }, { "start": 1888675, "end": 1888851 }, { "start": 1891833, "end": 1891940 }, { "start": 1895009, "end": 1895095 }, { "start": 1897071, "end": 1900082 } ], "cds": { "start": 1830094, "end": 1897175 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "17", "start": 1732996, "end": 1803376, "strand": "+" }, "neighbourhood": { "release": "116", "start": 1365044, "end": 2365043, "genes": [ { "symbol": "YWHAE", "ensemblId": "ENSG00000108953", "biotype": "protein_coding", "start": 1344275, "end": 1400326, "strand": "-", "slug": "ywhae" }, { "symbol": "CRK", "ensemblId": "ENSG00000167193", "biotype": "protein_coding", "start": 1420689, "end": 1463162, "strand": "-", "slug": "crk" }, { "symbol": "MYO1C", "ensemblId": "ENSG00000197879", "biotype": "protein_coding", "start": 1464186, "end": 1492707, "strand": "-", "slug": "myo1c" }, { "symbol": "INPP5K", "ensemblId": "ENSG00000132376", "biotype": "protein_coding", "start": 1494571, "end": 1516759, "strand": "-", "slug": "inpp5k" }, { "symbol": "PITPNA", "ensemblId": "ENSG00000174238", "biotype": "protein_coding", "start": 1517718, "end": 1562861, "strand": "-", "slug": "pitpna" }, { "symbol": "SLC43A2", "ensemblId": "ENSG00000167703", "biotype": "protein_coding", "start": 1569268, "end": 1630103, "strand": "-", "slug": "slc43a2" }, { "symbol": "SCARF1", "ensemblId": "ENSG00000074660", "biotype": "protein_coding", "start": 1633848, "end": 1646122, "strand": "-", "slug": "scarf1" }, { "symbol": "RILP", "ensemblId": "ENSG00000167705", "biotype": "protein_coding", "start": 1646138, "end": 1650083, "strand": "-", "slug": "rilp" }, { "symbol": "PRPF8", "ensemblId": "ENSG00000174231", "biotype": "protein_coding", "start": 1650624, "end": 1684909, "strand": "-", "slug": "prpf8" }, { "symbol": "TLCD2", "ensemblId": "ENSG00000185561", "biotype": "protein_coding", "start": 1688598, "end": 1710639, "strand": "-", "slug": "tlcd2" }, { "symbol": "WDR81", "ensemblId": "ENSG00000167716", "biotype": "protein_coding", "start": 1716523, "end": 1738599, "strand": "+", "slug": "wdr81" }, { "symbol": "SERPINF2", "ensemblId": "ENSG00000167711", "biotype": "protein_coding", "start": 1742069, "end": 1755271, "strand": "+", "slug": "serpinf2" }, { "symbol": "SERPINF1", "ensemblId": "ENSG00000132386", "biotype": "protein_coding", "start": 1761958, "end": 1777627, "strand": "+", "slug": "serpinf1" }, { "symbol": "SMYD4", "ensemblId": "ENSG00000186532", "biotype": "protein_coding", "start": 1779485, "end": 1830634, "strand": "-", "slug": "smyd4" }, { "symbol": "RTN4RL1", "ensemblId": "ENSG00000185924", "biotype": "protein_coding", "start": 1934677, "end": 2025355, "strand": "-", "slug": "rtn4rl1" }, { "symbol": "DPH1", "ensemblId": "ENSG00000108963", "biotype": "protein_coding", "start": 2030136, "end": 2043898, "strand": "+", "slug": "dph1" }, { "symbol": "OVCA2", "ensemblId": "ENSG00000262664", "biotype": "protein_coding", "start": 2042022, "end": 2043898, "strand": "+", "slug": "ovca2" }, { "symbol": "HIC1", "ensemblId": "ENSG00000177374", "biotype": "protein_coding", "start": 2054154, "end": 2063241, "strand": "+", "slug": "hic1" }, { "symbol": "SMG6", "ensemblId": "ENSG00000070366", "biotype": "protein_coding", "start": 2059839, "end": 2303934, "strand": "-", "slug": "smg6" }, { "symbol": "SRR", "ensemblId": "ENSG00000167720", "biotype": "protein_coding", "start": 2303383, "end": 2326656, "strand": "+", "slug": "srr" }, { "symbol": "TSR1", "ensemblId": "ENSG00000167721", "biotype": "protein_coding", "start": 2322376, "end": 2337965, "strand": "-", "slug": "tsr1" }, { "symbol": "SGSM2", "ensemblId": "ENSG00000141258", "biotype": "protein_coding", "start": 2337488, "end": 2381058, "strand": "+", "slug": "sgsm2" } ], "truncated": false }, "reports": [ { "slug": "dyskeratosis-congenita", "name": "Dyskeratosis congenita", "diseases": [ { "mondoId": "MONDO:0100137", "name": "Telomer-Syndrome", "genes": 16, "inheritance": null, "description": "Störungen mit verkürzten Telomeren, die durch Varianten in Genen der Telomeraufrechterhaltung wie TERT, TERC, RTEL1 und PARN verursacht werden. Sie können auch ohne typische Hautsymptome zu Knochenmarkversagen, Lungenfibrose und Lebererkrankungen führen.", "management": "Es wird eine Überwachung der Blutwerte, der Lunge und der Leber empfohlen. Die Diagnose unterstützt zudem die Auswahl des Spenders und die Behandlungsentscheidungen bei einer Stammzelltransplantation.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/de/conditions/dyskeratosis-congenita" }, { "slug": "familial-pulmonary-fibrosis", "name": "Familiäre Lungenfibrose", "diseases": [ { "mondoId": "MONDO:0000148", "name": "Telomerbedingte Lungenfibrose und/oder Knochenmarkversagen", "genes": 7, "inheritance": null, "description": "Varianten in Genen zur Telomererhaltung wie TERT, TERC, RTEL1 und PARN können im Erwachsenenalter eine fortschreitende Lungenfibrose verursachen, manchmal zusammen mit einem Knochenmarkversagen oder einer Lebererkrankung.", "management": "Das Wissen kann zu einer früheren Überwachung und Behandlung der Lunge, zu Untersuchungen auf Beteiligung von Blut und Leber, zu einer sorgfältigen Behandlung mit immunsuppressiven Medikamenten im Umfeld einer Transplantation sowie zu einer sorgfältigen Auswahl verwandter Spender führen.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/de/conditions/familial-pulmonary-fibrosis" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormally-low-t-cell-receptor-excision-circle-level", "name": "Abnormally low T cell receptor excision circle level", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormally-low-t-cell-receptor-excision-circle-level" }, { "slug": "bone-marrow-hypocellularity", "name": "Bone marrow failure", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bone-marrow-hypocellularity" }, { "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": "decreased-circulating-immunoglobulin-concentration", "name": "Decreased circulating antibody level", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/decreased-circulating-immunoglobulin-concentration" }, { "slug": "pancytopenia", "name": "Low blood cell count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pancytopenia" }, { "slug": "myelodysplasia", "name": "Myelodysplasia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/myelodysplasia" }, { "slug": "oral-leukoplakia", "name": "Oral white patch", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/oral-leukoplakia" }, { "slug": "nail-dystrophy", "name": "Poor nail formation", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nail-dystrophy" }, { "slug": "premature-graying-of-hair", "name": "Premature graying of hair", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/premature-graying-of-hair" }, { "slug": "pulmonary-fibrosis", "name": "Pulmonary scarring", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pulmonary-fibrosis" }, { "slug": "reticular-hyperpigmentation", "name": "Reticular hyperpigmentation", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/reticular-hyperpigmentation" }, { "slug": "short-telomere-length", "name": "Short telomere length", "systems": [ "abnormal-cellular-phenotype" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-telomere-length" }, { "slug": "restrictive-ventilatory-defect", "name": "Stiff lung or chest wall causing decreased lung volume", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/restrictive-ventilatory-defect" } ], "related": [ { "slug": "naf1", "symbol": "NAF1", "name": "nuclear assembly factor 1 ribonucleoprotein", "shared": 2, "url": "https://dantelabs.com/de/genes/naf1" }, { "slug": "parn", "symbol": "PARN", "name": "poly(A)-specific ribonuclease", "shared": 2, "url": "https://dantelabs.com/de/genes/parn" }, { "slug": "pot1", "symbol": "POT1", "name": "protection of telomeres 1", "shared": 2, "url": "https://dantelabs.com/de/genes/pot1" }, { "slug": "rtel1", "symbol": "RTEL1", "name": "regulator of telomere elongation helicase 1", "shared": 2, "url": "https://dantelabs.com/de/genes/rtel1" }, { "slug": "tert", "symbol": "TERT", "name": "telomerase reverse transcriptase", "shared": 2, "url": "https://dantelabs.com/de/genes/tert" }, { "slug": "zcchc8", "symbol": "ZCCHC8", "name": "zinc finger CCHC-type containing 8", "shared": 2, "url": "https://dantelabs.com/de/genes/zcchc8" }, { "slug": "acd", "symbol": "ACD", "name": "ACD shelterin complex subunit and telomerase recruitment factor", "shared": 1, "url": "https://dantelabs.com/de/genes/acd" }, { "slug": "cdca7", "symbol": "CDCA7", "name": "cell division cycle associated 7", "shared": 1, "url": "https://dantelabs.com/de/genes/cdca7" }, { "slug": "ctc1", "symbol": "CTC1", "name": "CST telomere replication complex component 1", "shared": 1, "url": "https://dantelabs.com/de/genes/ctc1" }, { "slug": "dnmt3b", "symbol": "DNMT3B", "name": "DNA methyltransferase 3 beta", "shared": 1, "url": "https://dantelabs.com/de/genes/dnmt3b" }, { "slug": "hells", "symbol": "HELLS", "name": "helicase, lymphoid specific", "shared": 1, "url": "https://dantelabs.com/de/genes/hells" }, { "slug": "pola2", "symbol": "POLA2", "name": "DNA polymerase alpha 2, accessory subunit", "shared": 1, "url": "https://dantelabs.com/de/genes/pola2" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }