{"entity":{"id":"dot1l","kind":"target","name":"DOT1L","aka":["DOT1 like histone lysine methyltransferase","Histone-lysine N-methyltransferase, H3 lysine-79 specific","KIAA1814","DOT1","KMT4"],"tldr":"DOT1L (Histone-lysine N-methyltransferase, H3 lysine-79 specific) 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 Diffuse large B-cell lymphoma and Neuroblastoma.","summary":"Histone methyltransferase that methylates 'Lys-79' of histone H3. Histones in nucleosomes are preferred as substrate compared to free histones. Binds to DNA.\n\nIntOGen calls it a driver in 2 cohorts (0 activating, 2 loss-of-function), covering Diffuse Large B-Cell Lymphoma, NOS, Neuroblastoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:24948","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24948"},{"label":"UniProt Q8TEK3","url":"https://www.uniprot.org/uniprotkb/Q8TEK3/entry"},{"label":"NCBI Gene 84444","url":"https://www.ncbi.nlm.nih.gov/gene/84444"},{"label":"Ensembl ENSG00000104885","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000104885"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["dlbcl","neuroblastoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["menin-kmt2a"],"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 2 cohorts. 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":"DOT1L","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:24948","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24948","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8TEK3","url":"https://www.uniprot.org/uniprotkb/Q8TEK3/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen DOT1L","url":"https://www.intogen.org/search?gene=DOT1L","note":"driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:24948","ensembl":"ENSG00000104885","uniprot":"Q8TEK3","entrez":"84444","biology":"Histone methyltransferase that methylates 'Lys-79' of histone H3. Histones in nucleosomes are preferred as substrate compared to free histones. Binds to DNA. Together with MLLT3/AF9, is involved in SCNN1A transcriptional repression following H3K79 hypermethylation at the promoter. Location: Nucleus; Cytoplasm (UniProt). Locus 19p13.3 (HGNC).","whereFound":["Diffuse large B-cell lymphoma: IntOGen driver in 1 cohort (DLBCLNOS)","Neuroblastoma: IntOGen driver in 1 cohort (NBL)"],"targetClass":"tumor-suppressor","prevalence":[]},"route":"/targets/dot1l/","neighbours":{"collection":[{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"}],"cancer":[{"id":"dlbcl","kind":"cancer","name":"Diffuse large B-cell lymphoma","route":"/cancers/dlbcl/"},{"id":"neuroblastoma","kind":"cancer","name":"Neuroblastoma (paediatric)","route":"/cancers/neuroblastoma/"}],"pathway":[{"id":"menin-kmt2a","kind":"pathway","name":"Menin / KMT2A (HOXA9-MEIS1 axis)","route":"/pathways/menin-kmt2a/"}]}}