{"entity":{"id":"faap20","kind":"target","name":"FAAP20","aka":["FA core complex associated protein 20","Fanconi anemia core complex-associated protein 20","FLJ31031","C1orf86"],"tldr":"FAAP20 (Fanconi anaemia core complex-associated protein 20) is a gene. 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.","summary":"Component of the Fanconi anaemia (FA) complex required to recruit the FA complex to DNA interstrand cross-links (ICLs) and promote ICLs repair. Following DNA damage recognises and binds 'Lys-63'-linked ubiquitin generated by RNF8 at ICLs and recruits other components of the FA complex. Promotes translesion synthesis via interaction with REV1.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 1 variant, naming Interventional Radiology Procedure and PARP Inhibitor AZD2461.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:26428","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26428"},{"label":"UniProt Q6NZ36","url":"https://www.uniprot.org/uniprotkb/Q6NZ36/entry"},{"label":"NCBI Gene 199990","url":"https://www.ncbi.nlm.nih.gov/gene/199990"},{"label":"Ensembl ENSG00000162585","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000162585"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":[],"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 2 therapies; CIViC holds 2 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":"FAAP20","role":["drug-target","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:26428","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26428","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q6NZ36","url":"https://www.uniprot.org/uniprotkb/Q6NZ36/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FAAP20","url":"https://civicdb.org/features/19896","note":"2 evidence items, 0 assertions, 1 variants; diseases: Cancer (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"not-established","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA FAAP20: RNA low tissue specificity; no normal tissue stained high; highest cancer staining colorectal cancer (5 of 11 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas FAAP20 tissue","url":"https://www.proteinatlas.org/ENSG00000162585-FAAP20/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000162585 associations","url":"https://platform.opentargets.org/target/ENSG00000162585/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:26428","ensembl":"ENSG00000162585","uniprot":"Q6NZ36","entrez":"199990","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"Component of the Fanconi anaemia (FA) complex required to recruit the FA complex to DNA interstrand cross-links (ICLs) and promote ICLs repair. Following DNA damage recognises and binds 'Lys-63'-linked ubiquitin generated by RNF8 at ICLs and recruits other components of the FA complex. Promotes translesion synthesis via interaction with REV1. Location: Nucleus; Chromosome (UniProt). Locus 1p36.33 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},"route":"/targets/faap20/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"}]}}