{"entity":{"id":"col1a1","kind":"target","name":"COL1A1","aka":["collagen type I alpha 1 chain","Collagen alpha-1(I) chain","OI4"],"tldr":"COL1A1 (Collagen alpha-1(I) chain) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver, a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Sarcomas, Anal cancer, Pancreatic ductal adenocarcinoma and 3 more.","summary":"Type I collagen is a member of group I collagen (fibrillar forming collagen).\n\nOpen Targets scores its association with cancer at 0.67 (direct and indirect evidence; datatypes literature 0.98, animal model 0.57, genetic association 0.00, somatic mutation 0.79). IntOGen calls it a driver in 5 cohorts (2 activating, 3 loss-of-function), covering Anal Squamous Cell Carcinoma, Glioblastoma Multiforme, Melanoma, Pancreatic Adenocarcinoma, Plasma Cell Myeloma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2197","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2197"},{"label":"UniProt P02452","url":"https://www.uniprot.org/uniprotkb/P02452/entry"},{"label":"NCBI Gene 1277","url":"https://www.ncbi.nlm.nih.gov/gene/1277"},{"label":"Ensembl ENSG00000108821","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000108821"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["sarcoma","anal","pancreatic","multiple-myeloma","glioblastoma","melanoma"],"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 an activating (Act) driver in 2 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts; UniProt disease notes describe a translocation or gene fusion involving the gene. 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":"COL1A1","role":["oncogene-driver","tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:2197","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2197","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P02452","url":"https://www.uniprot.org/uniprotkb/P02452/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000108821","url":"https://platform.opentargets.org/target/ENSG00000108821/associations","note":"association with cancer (MONDO_0004992) 0.67; per-cancer scores at or above 0.5: sarcoma 0.59 (GraphQL API, CC0)"},{"label":"IntOGen COL1A1","url":"https://www.intogen.org/search?gene=COL1A1","note":"driver in 5 cohorts (Act 2, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:2197","ensembl":"ENSG00000108821","uniprot":"P02452","entrez":"1277","biology":"Type I collagen is a member of group I collagen (fibrillar forming collagen). Location: Secreted, extracellular space, extracellular matrix (UniProt). Locus 17q21.33 (HGNC).","whereFound":["Sarcomas: Open Targets association 0.59 with sarcoma (MONDO_0005089)","Anal cancer: IntOGen driver in 1 cohort (ANSC)","Pancreatic ductal adenocarcinoma: IntOGen driver in 1 cohort (PAAD)","Multiple myeloma: IntOGen driver in 1 cohort (PCM)","Glioma & glioblastoma: IntOGen driver in 1 cohort (GBM)","Melanoma: IntOGen driver in 1 cohort (MEL)"],"targetClass":"tumor-suppressor","prevalence":[]},"route":"/targets/col1a1/","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":"anal","kind":"cancer","name":"Anal cancer (squamous cell carcinoma)","route":"/cancers/anal/"},{"id":"glioblastoma","kind":"cancer","name":"Glioma & glioblastoma","route":"/cancers/glioblastoma/"},{"id":"melanoma","kind":"cancer","name":"Melanoma","route":"/cancers/melanoma/"},{"id":"multiple-myeloma","kind":"cancer","name":"Multiple myeloma","route":"/cancers/multiple-myeloma/"},{"id":"pancreatic","kind":"cancer","name":"Pancreatic ductal adenocarcinoma","route":"/cancers/pancreatic/"},{"id":"sarcoma","kind":"cancer","name":"Sarcomas (soft tissue, bone, GIST)","route":"/cancers/sarcoma/"}]}}