{"entity":{"id":"ercc4","kind":"target","name":"ERCC4","aka":["ERCC excision repair 4, endonuclease catalytic subunit","DNA repair endonuclease XPF","RAD1","FANCQ"],"tldr":"ERCC4 (DNA repair endonuclease XPF) is an enzyme. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Leukaemia, Skin cancer, Myeloproliferative neoplasms and 4 more.","summary":"Catalytic component of a structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair, and which is essential for nucleotide excision repair (NER) and interstrand cross-link (ICL) repair.\n\nCIViC holds 3 clinical evidence items and 0 assertions across 1 variant, naming Immune Checkpoint Inhibitor. Open Targets scores its association with cancer at 0.77 (direct and indirect evidence; datatypes genetic literature 0.76, affected pathway 0.61, literature 0.98, genetic association 0.63, somatic mutation 0.98).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3436","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3436"},{"label":"UniProt Q92889","url":"https://www.uniprot.org/uniprotkb/Q92889/entry"},{"label":"NCBI Gene 2072","url":"https://www.ncbi.nlm.nih.gov/gene/2072"},{"label":"Ensembl ENSG00000175595","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000175595"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["leukaemia","skin-cancer","myeloproliferative-neoplasms","colorectal","melanoma","nsclc","aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 3 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ERCC4","role":["drug-target","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3436","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3436","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q92889","url":"https://www.uniprot.org/uniprotkb/Q92889/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ERCC4","url":"https://civicdb.org/features/1740","note":"3 evidence items, 0 assertions, 1 variants; diseases: Melanoma, Lung Non-small Cell Carcinoma, Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000175595","url":"https://platform.opentargets.org/target/ENSG00000175595/associations","note":"association with cancer (MONDO_0004992) 0.77; per-cancer scores at or above 0.5: colorectal cancer 0.53, melanoma 0.54, acute myeloid leukaemia 0.53, skin cancer 0.55, myeloproliferative neoplasm 0.54, leukaemia 0.60 (GraphQL API, CC0)"}],"hgnc":"HGNC:3436","ensembl":"ENSG00000175595","uniprot":"Q92889","entrez":"2072","biology":"Catalytic component of a structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair, and which is essential for nucleotide excision repair (NER) and interstrand cross-link (ICL) repair. Location: Nucleus; Chromosome (UniProt). Locus 16p13.12 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.60 with leukaemia (MONDO_0005059)","Skin cancer: Open Targets association 0.55 with skin cancer (MONDO_0002898)","Myeloproliferative neoplasms: Open Targets association 0.54 with myeloproliferative neoplasm (MONDO_0020076)","Colorectal cancer: Open Targets association 0.53 with colorectal cancer (MONDO_0005575)","Melanoma: Open Targets association 0.54 with melanoma (MONDO_0005105); CIViC evidence names this disease","Non-small-cell lung cancer: CIViC evidence names this disease"],"targetClass":"enzyme","prevalence":[]},"route":"/targets/ercc4/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"},{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"aml","kind":"cancer","name":"Acute myeloid leukaemia","route":"/cancers/aml/"},{"id":"colorectal","kind":"cancer","name":"Colorectal cancer","route":"/cancers/colorectal/"},{"id":"leukaemia","kind":"cancer","name":"Leukaemia (all types)","route":"/cancers/leukaemia/"},{"id":"melanoma","kind":"cancer","name":"Melanoma","route":"/cancers/melanoma/"},{"id":"myeloproliferative-neoplasms","kind":"cancer","name":"Myeloproliferative neoplasms (PV, ET, myelofibrosis)","route":"/cancers/myeloproliferative-neoplasms/"},{"id":"nsclc","kind":"cancer","name":"Non-small-cell lung cancer","route":"/cancers/nsclc/"},{"id":"skin-cancer","kind":"cancer","name":"Skin cancer (all types)","route":"/cancers/skin-cancer/"}]}}