{"entity":{"id":"recql4","kind":"target","name":"RECQL4","aka":["RecQ like helicase 4","ATP-dependent DNA helicase Q4","RecQ4"],"tldr":"RECQL4 (ATP-dependent DNA helicase Q4) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Sarcomas, Gastric & gastro-oesophageal junction cancer, Breast cancer and 5 more.","summary":"An ATP-dependent DNA helicase which unwinds dsDNA with a 3'-overhang in a 3'-5' direction. Does not unwind more than 18 bp of dsDNA. May modulate chromosome segregation.\n\nOpen Targets scores its association with cancer at 0.79 (direct and indirect evidence; datatypes genetic literature 0.76, literature 0.98, genetic association 0.86, somatic mutation 0.84, animal model 0.47). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Stomach Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9949","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9949"},{"label":"UniProt O94761","url":"https://www.uniprot.org/uniprotkb/O94761/entry"},{"label":"NCBI Gene 9401","url":"https://www.ncbi.nlm.nih.gov/gene/9401"},{"label":"Ensembl ENSG00000160957","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000160957"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["sarcoma","gastric","breast-cancer","colorectal","lung-cancer","ovarian","skin-cancer","osteosarcoma"],"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: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" 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":"RECQL4","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:9949","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9949","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O94761","url":"https://www.uniprot.org/uniprotkb/O94761/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000160957","url":"https://platform.opentargets.org/target/ENSG00000160957/associations","note":"association with cancer (MONDO_0004992) 0.79; per-cancer scores at or above 0.5: colorectal cancer 0.54, gastric cancer 0.56, ovarian cancer 0.52, sarcoma 0.61, skin cancer 0.52, osteosarcoma 0.58 (GraphQL API, CC0)"},{"label":"IntOGen RECQL4","url":"https://www.intogen.org/search?gene=RECQL4","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:9949","ensembl":"ENSG00000160957","uniprot":"O94761","entrez":"9401","biology":"An ATP-dependent DNA helicase which unwinds dsDNA with a 3'-overhang in a 3'-5' direction. Does not unwind more than 18 bp of dsDNA. May modulate chromosome segregation. The N-terminal domain (residues 1-54) binds DNA Y-shaped DNA better than ss- or dsDNA. The core helicase domain binds ssDNA. Location: Cytoplasm; Nucleus (UniProt). Locus 8q24.3 (HGNC).","whereFound":["Sarcomas: Open Targets association 0.61 with sarcoma (MONDO_0005089)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.56 with gastric cancer (MONDO_0001056); IntOGen driver in 1 cohort (STAD)","Breast cancer: Open Targets association 0.56 with breast cancer (MONDO_0007254)","Colorectal cancer: Open Targets association 0.54 with colorectal cancer (MONDO_0005575)","Lung cancer: Open Targets association 0.54 with lung cancer (MONDO_0008903)","Ovarian cancer: Open Targets association 0.52 with ovarian cancer (MONDO_0008170)"],"targetClass":"tumor-suppressor","prevalence":[]},"route":"/targets/recql4/","neighbours":{"collection":[{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"},{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"breast-cancer","kind":"cancer","name":"Breast cancer (all types)","route":"/cancers/breast-cancer/"},{"id":"colorectal","kind":"cancer","name":"Colorectal cancer","route":"/cancers/colorectal/"},{"id":"gastric","kind":"cancer","name":"Gastric & gastro-oesophageal junction cancer","route":"/cancers/gastric/"},{"id":"lung-cancer","kind":"cancer","name":"Lung cancer (all types)","route":"/cancers/lung-cancer/"},{"id":"osteosarcoma","kind":"cancer","name":"Osteosarcoma","route":"/cancers/osteosarcoma/"},{"id":"ovarian","kind":"cancer","name":"Ovarian cancer","route":"/cancers/ovarian/"},{"id":"sarcoma","kind":"cancer","name":"Sarcomas (soft tissue, bone, GIST)","route":"/cancers/sarcoma/"},{"id":"skin-cancer","kind":"cancer","name":"Skin cancer (all types)","route":"/cancers/skin-cancer/"}]}}