{"entity":{"id":"runx1","kind":"target","name":"RUNX1","aka":["RUNX family transcription factor 1","Runt-related transcription factor 1","PEBP2A2","AMLCR1","AML1","CBFA2"],"tldr":"RUNX1 (Runt-related transcription factor 1) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Leukaemia, Myeloproliferative neoplasms, Non-Hodgkin lymphoma and 5 more.","summary":"Forms the heterodimeric complex core-binding factor (CBF) with CBFB. RUNX members modulate the transcription of their target genes through recognising the core consensus binding sequence 5'-TGTGGT-3', or very rarely, 5'-TGCGGT-3', within their regulatory regions via their runt domain, while CBFB is a non-DNA-binding regulatory subunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX. The heterodimers bind to the core site of a number of enhancers and promoters, including murine leukaemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL3 and GM-CSF promoters.\n\nCIViC holds 18 clinical evidence items and 0 assertions across 13 variants, naming Cytarabine. Open Targets scores its association with cancer at 0.86 (direct and indirect evidence; datatypes genetic literature 0.83, affected pathway 0.44, literature 1.00, genetic association 0.83, somatic mutation 0.94, animal model 0.80). IntOGen calls it a driver in 7 cohorts (1 activating, 6 loss-of-function), covering Adenoid Cystic Carcinoma, Acute Lymphoblastic Leukaemia, Acute Myeloid Leukaemia, Invasive Breast Carcinoma, Glioblastoma Multiforme.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10471","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10471"},{"label":"UniProt Q01196","url":"https://www.uniprot.org/uniprotkb/Q01196/entry"},{"label":"NCBI Gene 861","url":"https://www.ncbi.nlm.nih.gov/gene/861"},{"label":"Ensembl ENSG00000159216","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000159216"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["leukaemia","myeloproliferative-neoplasms","non-hodgkin-lymphoma","mds","breast-cancer","salivary-gland","ovarian","lung-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["aml-signalling"],"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; IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 6 cohorts; CIViC holds 18 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene. 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":"RUNX1","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker","fusion-partner"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:10471","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10471","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q01196","url":"https://www.uniprot.org/uniprotkb/Q01196/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene RUNX1","url":"https://civicdb.org/features/43","note":"18 evidence items, 0 assertions, 13 variants; diseases: Acute Myeloid Leukaemia, Myelodysplastic Syndrome, Acute Lymphoblastic Leukaemia (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000159216","url":"https://platform.opentargets.org/target/ENSG00000159216/associations","note":"association with cancer (MONDO_0004992) 0.86; per-cancer scores at or above 0.5: ovarian cancer 0.51, acute myeloid leukaemia 0.78, acute lymphoblastic leukaemia 0.61, non-Hodgkin lymphoma 0.63, myeloproliferative neoplasm 0.83, breast cancer 0.55 (GraphQL API, CC0)"},{"label":"IntOGen RUNX1","url":"https://www.intogen.org/search?gene=RUNX1","note":"driver in 7 cohorts (Act 1, LoF 6); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:10471","ensembl":"ENSG00000159216","uniprot":"Q01196","entrez":"861","biology":"Forms the heterodimeric complex core-binding factor (CBF) with CBFB. RUNX members modulate the transcription of their target genes through recognising the core consensus binding sequence 5'-TGTGGT-3', or very rarely, 5'-TGCGGT-3', within their regulatory regions via their runt domain, while CBFB is a non-DNA-binding regulatory subunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX. The heterodimers bind to the core site of a number of enhancers and promoters, including murine leukaemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL3 and GM-CSF promoters. Essential for the development of normal haematopoiesis. Acts synergistically with ELF4 to transactivate the IL-3 promoter and with ELF2 to transactivate the BLK promoter. Inhibits KAT6B-dependent transcriptional activation. Location: Nucleus (UniProt). Locus 21q22.12 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.84 with leukaemia (MONDO_0005059)","Myeloproliferative neoplasms: Open Targets association 0.83 with myeloproliferative neoplasm (MONDO_0020076)","Non-Hodgkin lymphoma: Open Targets association 0.63 with non-Hodgkin lymphoma (MONDO_0018908)","Myelodysplastic syndromes / neoplasms: CIViC evidence names this disease","Breast cancer: Open Targets association 0.55 with breast cancer (MONDO_0007254); IntOGen driver in 2 cohorts (BRCA)","Salivary gland cancers: IntOGen driver in 1 cohort (ACYC)"],"targetClass":"transcription","prevalence":[]},"route":"/targets/runx1/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"},{"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":"leukaemia","kind":"cancer","name":"Leukaemia (all types)","route":"/cancers/leukaemia/"},{"id":"lung-cancer","kind":"cancer","name":"Lung cancer (all types)","route":"/cancers/lung-cancer/"},{"id":"mds","kind":"cancer","name":"Myelodysplastic syndromes / neoplasms (MDS)","route":"/cancers/mds/"},{"id":"myeloproliferative-neoplasms","kind":"cancer","name":"Myeloproliferative neoplasms (PV, ET, myelofibrosis)","route":"/cancers/myeloproliferative-neoplasms/"},{"id":"non-hodgkin-lymphoma","kind":"cancer","name":"Non-Hodgkin lymphoma (all types)","route":"/cancers/non-hodgkin-lymphoma/"},{"id":"ovarian","kind":"cancer","name":"Ovarian cancer","route":"/cancers/ovarian/"},{"id":"salivary-gland","kind":"cancer","name":"Salivary gland cancers","route":"/cancers/salivary-gland/"}],"pathway":[{"id":"aml-signalling","kind":"pathway","name":"Acute myeloid leukaemia (KEGG map)","route":"/pathways/aml-signalling/"}]}}