{"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"}],"specificitySources":[],"hgnc":"HGNC:18145","ensembl":"ENSG00000156531","uniprot":"Q8IWS0","entrez":"84295","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 2001, \"Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11347906/","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/"}]}}