{"entity":{"id":"phf6","kind":"target","name":"PHF6","aka":["PHD finger protein 6","KIAA1823","MGC14797","CENP-31"],"tldr":"PHF6 (PHD finger protein 6) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Leukaemia, Non-Hodgkin lymphoma, Myeloproliferative neoplasms and 5 more.","summary":"Transcriptional regulator that associates with ribosomal RNA promoters and suppresses ribosomal RNA (rRNA) transcription.\n\nOpen Targets scores its association with cancer at 0.71 (direct and indirect evidence; datatypes literature 0.97, animal model 0.29, genetic association 0.00, somatic mutation 0.91). IntOGen calls it a driver in 5 cohorts (2 activating, 3 loss-of-function), covering Acute Lymphoblastic Leukaemia, Acute Myeloid Leukaemia, Burkitt Lymphoma, Lung Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18145","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18145"},{"label":"UniProt Q8IWS0","url":"https://www.uniprot.org/uniprotkb/Q8IWS0/entry"},{"label":"NCBI Gene 84295","url":"https://www.ncbi.nlm.nih.gov/gene/84295"},{"label":"Ensembl ENSG00000156531","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000156531"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["leukaemia","non-hodgkin-lymphoma","myeloproliferative-neoplasms","breast-cancer","aml","all-leukemia","burkitt-lymphoma","nsclc"],"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. 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":"PHF6","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:18145","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18145","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8IWS0","url":"https://www.uniprot.org/uniprotkb/Q8IWS0/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000156531","url":"https://platform.opentargets.org/target/ENSG00000156531/associations","note":"association with cancer (MONDO_0004992) 0.71; per-cancer scores at or above 0.5: acute myeloid leukaemia 0.53, acute lymphoblastic leukaemia 0.56, non-Hodgkin lymphoma 0.61, myeloproliferative neoplasm 0.55, breast cancer 0.52, leukaemia 0.65 (GraphQL API, CC0)"},{"label":"IntOGen PHF6","url":"https://www.intogen.org/search?gene=PHF6","note":"driver in 5 cohorts (Act 2, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:18145","ensembl":"ENSG00000156531","uniprot":"Q8IWS0","entrez":"84295","biology":"Transcriptional regulator that associates with ribosomal RNA promoters and suppresses ribosomal RNA (rRNA) transcription. Location: Nucleus; Nucleus, nucleolus; Chromosome, centromere, kinetochore (UniProt). Locus Xq26.2 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.65 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.61 with non-Hodgkin lymphoma (MONDO_0018908)","Myeloproliferative neoplasms: Open Targets association 0.55 with myeloproliferative neoplasm (MONDO_0020076)","Breast cancer: Open Targets association 0.52 with breast cancer (MONDO_0007254)","Acute myeloid leukaemia: Open Targets association 0.53 with acute myeloid leukaemia (MONDO_0018874); IntOGen driver in 2 cohorts (AML)","Acute lymphoblastic leukaemia: Open Targets association 0.56 with acute lymphoblastic leukaemia (MONDO_0004967); IntOGen driver in 1 cohort (ALL)"],"targetClass":"transcription","prevalence":[]},"route":"/targets/phf6/","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":"all-leukemia","kind":"cancer","name":"Acute lymphoblastic leukaemia","route":"/cancers/all-leukemia/"},{"id":"aml","kind":"cancer","name":"Acute myeloid leukaemia","route":"/cancers/aml/"},{"id":"breast-cancer","kind":"cancer","name":"Breast cancer (all types)","route":"/cancers/breast-cancer/"},{"id":"burkitt-lymphoma","kind":"cancer","name":"Burkitt lymphoma","route":"/cancers/burkitt-lymphoma/"},{"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":"nsclc","kind":"cancer","name":"Non-small-cell lung cancer","route":"/cancers/nsclc/"}]}}