{"entity":{"id":"dicer1","kind":"target","name":"DICER1","aka":["dicer 1, ribonuclease III","Endoribonuclease Dicer","Dicer","KIAA0928","K12H4.8-LIKE","HERNA","MNG1"],"tldr":"DICER1 (Endoribonuclease Dicer) is an enzyme. 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 Lung cancer, Sarcomas, Brain and spinal cord tumours and 5 more.","summary":"Double-stranded RNA (dsRNA) endoribonuclease playing a central role in short dsRNA-mediated post-transcriptional gene silencing. Cleaves naturally occurring long dsRNAs and short hairpin pre-microRNAs (miRNA) into fragments of twenty-one to twenty-three nucleotides with 3' overhang of two nucleotides, producing respectively short interfering RNAs (siRNA) and mature microRNAs. SiRNAs and miRNAs serve as guide to direct the RNA-induced silencing complex (RISC) to complementary RNAs to degrade them or prevent their translation.\n\nCIViC holds 31 clinical evidence items and 3 assertions across 15 variants. Open Targets scores its association with cancer at 0.87 (direct and indirect evidence; datatypes literature 0.99, genetic association 0.80, somatic mutation 0.85, genetic literature 0.92). IntOGen calls it a driver in 4 cohorts (1 activating, 3 loss-of-function), covering Colorectal Adenocarcinoma, Cutaneous Squamous Cell Carcinoma, Melanoma, Endometrial Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:17098","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17098"},{"label":"UniProt Q9UPY3","url":"https://www.uniprot.org/uniprotkb/Q9UPY3/entry"},{"label":"NCBI Gene 23405","url":"https://www.ncbi.nlm.nih.gov/gene/23405"},{"label":"Ensembl ENSG00000100697","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000100697"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["lung-cancer","sarcoma","brain-tumours","ovarian","skin-cancer","colorectal","endometrial","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 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts; CIViC holds 31 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.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Sertoli-Leydig Cell Tumour; Gynandroblastoma; Anaplastic Sarcoma Of The Kidney; Pleuropulmonary Blastoma; Glandular Pattern Ovarian Yolk Sac Tumour; Pituitary Blastoma; Granulosa Cell Tumour; Mature Teratoma Of The Ovary."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DICER1","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:17098","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17098","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UPY3","url":"https://www.uniprot.org/uniprotkb/Q9UPY3/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene DICER1","url":"https://civicdb.org/features/9533","note":"31 evidence items, 3 assertions, 15 variants; diseases: Sertoli-Leydig Cell Tumour, Gynandroblastoma, Anaplastic Sarcoma Of The Kidney, Pleuropulmonary Blastoma, Glandular Pattern Ovarian Yolk Sac Tumour and 3 more (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000100697","url":"https://platform.opentargets.org/target/ENSG00000100697/associations","note":"association with cancer (MONDO_0004992) 0.87; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.79, colorectal cancer 0.56, ovarian cancer 0.62, endometrial cancer 0.54, melanoma 0.62, sarcoma 0.79 (GraphQL API, CC0)"},{"label":"IntOGen DICER1","url":"https://www.intogen.org/search?gene=DICER1","note":"driver in 4 cohorts (Act 1, LoF 3); 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 DICER1: RNA low tissue specificity; high antibody staining in 6 normal tissues; highest cancer staining urothelial cancer (7 of 11 high). Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lung cancer (all types), Sarcomas (soft tissue, bone, GIST), Brain and spinal cord tumours (all types), Ovarian cancer, Skin cancer (all types), Colorectal cancer, Endometrial cancer); Open Targets associates it with 7 specific cancer types at or above 0.5 (pleuropulmonary blastoma, goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome, rhabdomyosarcoma, embryonal, 2, embryonal rhabdomyosarcoma, pineoblastoma and more). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q9UPY3","url":"https://www.uniprot.org/uniprotkb/Q9UPY3/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene DICER1","url":"https://civicdb.org/features/9533","note":"31 evidence items, 3 assertions, 15 variants; diseases: Sertoli-Leydig Cell Tumour, Gynandroblastoma, Anaplastic Sarcoma Of The Kidney, Pleuropulmonary Blastoma, Glandular Pattern Ovarian Yolk Sac Tumour and 3 more (GraphQL API, CC0)"},{"label":"IntOGen DICER1","url":"https://www.intogen.org/search?gene=DICER1","note":"driver in 4 cohorts (Act 1, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas DICER1 tissue","url":"https://www.proteinatlas.org/ENSG00000100697-DICER1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000100697 associations","url":"https://platform.opentargets.org/target/ENSG00000100697/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:17098","ensembl":"ENSG00000100697","uniprot":"Q9UPY3","entrez":"23405","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1999, \"Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10231032/","biology":"Double-stranded RNA (dsRNA) endoribonuclease playing a central role in short dsRNA-mediated post-transcriptional gene silencing. Cleaves naturally occurring long dsRNAs and short hairpin pre-microRNAs (miRNA) into fragments of twenty-one to twenty-three nucleotides with 3' overhang of two nucleotides, producing respectively short interfering RNAs (siRNA) and mature microRNAs. SiRNAs and miRNAs serve as guide to direct the RNA-induced silencing complex (RISC) to complementary RNAs to degrade them or prevent their translation. Gene silencing mediated by siRNAs, also called RNA interference, controls the elimination of transcripts from mobile and repetitive DNA elements of the genome but also the degradation of exogenous RNA of viral origin for instance. The miRNA pathway on the other side is a mean to specifically regulate the expression of target genes. Location: Cytoplasm; Cytoplasm, perinuclear region (UniProt). Locus 14q32.13 (HGNC).","whereFound":["Lung cancer: Open Targets association 0.80 with lung cancer (MONDO_0008903)","Sarcomas: Open Targets association 0.79 with sarcoma (MONDO_0005089)","Brain and spinal cord tumours: Open Targets association 0.66 with brain cancer (MONDO_0001657)","Ovarian cancer: Open Targets association 0.62 with ovarian cancer (MONDO_0008170)","Skin cancer: Open Targets association 0.57 with skin cancer (MONDO_0002898)","Colorectal cancer: Open Targets association 0.56 with colorectal cancer (MONDO_0005575); IntOGen driver in 1 cohort (COADREAD)"],"targetClass":"enzyme","prevalence":[]},"route":"/targets/dicer1/","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":"brain-tumours","kind":"cancer","name":"Brain and spinal cord tumours (all types)","route":"/cancers/brain-tumours/"},{"id":"colorectal","kind":"cancer","name":"Colorectal cancer","route":"/cancers/colorectal/"},{"id":"endometrial","kind":"cancer","name":"Endometrial cancer","route":"/cancers/endometrial/"},{"id":"lung-cancer","kind":"cancer","name":"Lung cancer (all types)","route":"/cancers/lung-cancer/"},{"id":"nsclc","kind":"cancer","name":"Non-small-cell lung cancer","route":"/cancers/nsclc/"},{"id":"ovarian","kind":"cancer","name":"Ovarian cancer","route":"/cancers/ovarian/"},{"id":"pineoblastoma","kind":"cancer","name":"Pineoblastoma","route":"/cancers/pineoblastoma/"},{"id":"pleuropulmonary-blastoma-dicer1","kind":"cancer","name":"Pleuropulmonary blastoma (types I, Ir, II and III)","route":"/cancers/pleuropulmonary-blastoma-dicer1/"},{"id":"sarcoma","kind":"cancer","name":"Sarcomas (soft tissue, bone, GIST)","route":"/cancers/sarcoma/"},{"id":"skin-cancer","kind":"cancer","name":"Skin cancer (all types)","route":"/cancers/skin-cancer/"}]}}