{"entity":{"id":"nsd1","kind":"target","name":"NSD1","aka":["nuclear receptor binding SET domain protein 1","Histone-lysine N-methyltransferase, H3 lysine-36 specific","ARA267","FLJ22263","KMT3B"],"tldr":"NSD1 (Histone-lysine N-methyltransferase, H3 lysine-36 specific) is a protein that switches other genes on and off. 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 Leukaemia, Myeloproliferative neoplasms, Head and neck squamous cell carcinoma and 5 more.","summary":"Histone methyltransferase that dimethylates Lys-36 of histone H3 (H3K36me2). Transcriptional intermediary factor capable of both negatively or positively influencing transcription, depending on the cellular context.\n\nOpen Targets scores its association with cancer at 0.73 (direct and indirect evidence; datatypes literature 0.97, genetic association 0.68, somatic mutation 0.74, genetic literature 0.83). IntOGen calls it a driver in 15 cohorts (3 activating, 12 loss-of-function), covering Bladder Urothelial Carcinoma, Cervical Adenocarcinoma, Oesophageal Adenocarcinoma, Head and Neck Squamous Cell Carcinoma, Lung Squamous Cell Carcinoma, Melanoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:14234","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14234"},{"label":"UniProt Q96L73","url":"https://www.uniprot.org/uniprotkb/Q96L73/entry"},{"label":"NCBI Gene 64324","url":"https://www.ncbi.nlm.nih.gov/gene/64324"},{"label":"Ensembl ENSG00000165671","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000165671"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["leukaemia","myeloproliferative-neoplasms","head-and-neck","endometrial","urothelial","cervical","esophageal","non-hodgkin-lymphoma"],"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 3 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 12 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":"NSD1","role":["oncogene-driver","tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:14234","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14234","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96L73","url":"https://www.uniprot.org/uniprotkb/Q96L73/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000165671","url":"https://platform.opentargets.org/target/ENSG00000165671/associations","note":"association with cancer (MONDO_0004992) 0.73; per-cancer scores at or above 0.5: head and neck squamous cell carcinoma 0.54, acute myeloid leukaemia 0.66, myeloproliferative neoplasm 0.66, leukaemia 0.67 (GraphQL API, CC0)"},{"label":"IntOGen NSD1","url":"https://www.intogen.org/search?gene=NSD1","note":"driver in 15 cohorts (Act 3, LoF 12); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:14234","ensembl":"ENSG00000165671","uniprot":"Q96L73","entrez":"64324","biology":"Histone methyltransferase that dimethylates Lys-36 of histone H3 (H3K36me2). Transcriptional intermediary factor capable of both negatively or positively influencing transcription, depending on the cellular context. Location: Nucleus; Chromosome (UniProt). Locus 5q35.3 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.67 with leukaemia (MONDO_0005059)","Myeloproliferative neoplasms: Open Targets association 0.66 with myeloproliferative neoplasm (MONDO_0020076)","Head and neck squamous cell carcinoma: Open Targets association 0.54 with head and neck squamous cell carcinoma (MONDO_0010150); IntOGen driver in 4 cohorts (HNSC)","Endometrial cancer: IntOGen driver in 2 cohorts (UCEC)","Bladder & urothelial cancer: IntOGen driver in 1 cohort (BLCA)","Cervical cancer: IntOGen driver in 1 cohort (CEAD)"],"targetClass":"transcription","prevalence":[]},"route":"/targets/nsd1/","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":"urothelial","kind":"cancer","name":"Bladder & urothelial cancer","route":"/cancers/urothelial/"},{"id":"cervical","kind":"cancer","name":"Cervical cancer","route":"/cancers/cervical/"},{"id":"endometrial","kind":"cancer","name":"Endometrial cancer","route":"/cancers/endometrial/"},{"id":"head-and-neck","kind":"cancer","name":"Head and neck squamous cell carcinoma","route":"/cancers/head-and-neck/"},{"id":"leukaemia","kind":"cancer","name":"Leukaemia (all types)","route":"/cancers/leukaemia/"},{"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":"esophageal","kind":"cancer","name":"Oesophageal cancer","route":"/cancers/esophageal/"}]}}