{"entity":{"id":"ddx3x","kind":"target","name":"DDX3X","aka":["DEAD-box helicase 3 X-linked","ATP-dependent RNA helicase DDX3X","HLP2","DDX14","CAP-Rf","DDX3"],"tldr":"DDX3X (ATP-dependent RNA helicase DDX3X) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma, Leukaemia, Breast cancer and 5 more.","summary":"Multifunctional ATP-dependent RNA helicase. The ATPase activity can be stimulated by various ribo-and deoxynucleic acids indicative for a relaxed substrate specificity. In vitro can unwind partially double-stranded DNA with a preference for 5'-single-stranded DNA overhangs.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants. Open Targets scores its association with cancer at 0.67 (direct and indirect evidence; datatypes literature 0.98, affected pathway 0.28, genetic association 0.00, somatic mutation 0.85). IntOGen calls it a driver in 23 cohorts (14 activating, 9 loss-of-function), covering Burkitt Lymphoma, Invasive Breast Carcinoma, Chronic Lymphocytic Leukaemia/Small Lymphocytic Lymphoma, Diffuse Large B-Cell Lymphoma, NOS, Head and Neck Squamous Cell Carcinoma, Lymphoid Neoplasm and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2745","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2745"},{"label":"UniProt O00571","url":"https://www.uniprot.org/uniprotkb/O00571/entry"},{"label":"NCBI Gene 1654","url":"https://www.ncbi.nlm.nih.gov/gene/1654"},{"label":"Ensembl ENSG00000215301","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000215301"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["non-hodgkin-lymphoma","leukaemia","breast-cancer","mesothelioma","head-and-neck","skin-cancer","lung-cancer","medulloblastoma"],"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 14 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 9 cohorts; CIViC holds 2 clinical evidence items on its variants. 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":"DDX3X","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:2745","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2745","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O00571","url":"https://www.uniprot.org/uniprotkb/O00571/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene DDX3X","url":"https://civicdb.org/features/1417","note":"2 evidence items, 0 assertions, 2 variants; diseases: Diffuse Large B-cell Lymphoma, Burkitt Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000215301","url":"https://platform.opentargets.org/target/ENSG00000215301/associations","note":"association with cancer (MONDO_0004992) 0.67; per-cancer scores at or above 0.5: melanoma 0.64, acute lymphoblastic leukaemia 0.60, B-cell chronic lymphocytic leukaemia 0.50, non-Hodgkin lymphoma 0.73, skin cancer 0.55, medulloblastoma 0.69 (GraphQL API, CC0)"},{"label":"IntOGen DDX3X","url":"https://www.intogen.org/search?gene=DDX3X","note":"driver in 23 cohorts (Act 14, LoF 9); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA DDX3X: RNA low tissue specificity; high antibody staining in 19 normal tissues; highest cancer staining glioma (6 of 12 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Leukaemia, Breast cancer (all types), Mesothelioma, Head and neck squamous cell carcinoma, Skin cancer (all types), Lung cancer (all types) and more); Open Targets associates it with 2 specific cancer types at or above 0.5 (medulloblastoma, Burkitt lymphoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt O00571","url":"https://www.uniprot.org/uniprotkb/O00571/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene DDX3X","url":"https://civicdb.org/features/1417","note":"2 evidence items, 0 assertions, 2 variants; diseases: Diffuse Large B-cell Lymphoma, Burkitt Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen DDX3X","url":"https://www.intogen.org/search?gene=DDX3X","note":"driver in 23 cohorts (Act 14, LoF 9); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas DDX3X tissue","url":"https://www.proteinatlas.org/ENSG00000215301-DDX3X/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000215301 associations","url":"https://platform.opentargets.org/target/ENSG00000215301/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:2745","ensembl":"ENSG00000215301","uniprot":"O00571","entrez":"1654","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Chung et al, Korean J. Biochem, 1995, \"Identification of a human homolog of a putative RNA helicase gene (mDEAD3) expressed in mouse erythroid cells\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/O00571/entry","biology":"Multifunctional ATP-dependent RNA helicase. The ATPase activity can be stimulated by various ribo-and deoxynucleic acids indicative for a relaxed substrate specificity. In vitro can unwind partially double-stranded DNA with a preference for 5'-single-stranded DNA overhangs. Binds RNA G-quadruplex (rG4s) structures, including those located in the 5'-UTR of NRAS mRNA. Involved in many cellular processes, which do not necessarily require its ATPase/helicase catalytic activities. Involved in transcription regulation. Location: Cell membrane; Nucleus; Cytoplasm; Cytoplasm, Stress granule (UniProt). Locus Xp11.4 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.73 with non-Hodgkin lymphoma (MONDO_0018908); IntOGen driver in 3 cohorts (LNM, MLYM, NHL)","Leukaemia: Open Targets association 0.62 with leukaemia (MONDO_0005059)","Breast cancer: IntOGen driver in 2 cohorts (BRCA)","Mesothelioma: IntOGen driver in 2 cohorts (PLMESO)","Head and neck squamous cell carcinoma: IntOGen driver in 1 cohort (HNSC)","Skin cancer: Open Targets association 0.55 with skin cancer (MONDO_0002898)"],"targetClass":"transcription","prevalence":[]},"route":"/targets/ddx3x/","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":"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":"lung-cancer","kind":"cancer","name":"Lung cancer (all types)","route":"/cancers/lung-cancer/"},{"id":"medulloblastoma","kind":"cancer","name":"Medulloblastoma","route":"/cancers/medulloblastoma/"},{"id":"mesothelioma","kind":"cancer","name":"Mesothelioma","route":"/cancers/mesothelioma/"},{"id":"non-hodgkin-lymphoma","kind":"cancer","name":"Non-Hodgkin lymphoma (all types)","route":"/cancers/non-hodgkin-lymphoma/"},{"id":"skin-cancer","kind":"cancer","name":"Skin cancer (all types)","route":"/cancers/skin-cancer/"}]}}