{"entity":{"id":"myod1","kind":"target","name":"MYOD1","aka":["myogenic differentiation 1","Myoblast determination protein 1","bHLHc1","MYF3"],"tldr":"MYOD1 (Myoblast determination protein 1) is a protein that switches other genes on and off. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Sarcomas, Colorectal cancer and Rhabdomyosarcoma.","summary":"Acts as a transcriptional activator that promotes transcription of muscle-specific target genes and plays a role in muscle differentiation. Together with MYF5 and MYOG, co-occupies muscle-specific gene promoter core region during myogenesis. Induces fibroblasts to differentiate into myoblasts.\n\nCIViC holds 11 clinical evidence items and 1 assertion across 1 variant. Open Targets scores its association with cancer at 0.69 (direct and indirect evidence; datatypes literature 0.87, affected pathway 0.43, genetic association 0.35, somatic mutation 0.97).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7611","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7611"},{"label":"UniProt P15172","url":"https://www.uniprot.org/uniprotkb/P15172/entry"},{"label":"NCBI Gene 4654","url":"https://www.ncbi.nlm.nih.gov/gene/4654"},{"label":"Ensembl ENSG00000129152","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000129152"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["sarcoma","colorectal","rhabdomyosarcoma"],"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: CIViC holds 11 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: Spindle Cell Rhabdomyosarcoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MYOD1","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:7611","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7611","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P15172","url":"https://www.uniprot.org/uniprotkb/P15172/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MYOD1","url":"https://civicdb.org/features/3777","note":"11 evidence items, 1 assertions, 1 variants; diseases: Spindle Cell Rhabdomyosarcoma, Rhabdomyosarcoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000129152","url":"https://platform.opentargets.org/target/ENSG00000129152/associations","note":"association with cancer (MONDO_0004992) 0.69; per-cancer scores at or above 0.5: colorectal cancer 0.53, sarcoma 0.60, rhabdomyosarcoma 0.57 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA MYOD1: RNA tissue enriched (skeletal muscle 34 nTPM); no normal tissue stained high. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Sarcomas (soft tissue, bone, GIST), Colorectal cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas MYOD1 tissue","url":"https://www.proteinatlas.org/ENSG00000129152-MYOD1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000129152 associations","url":"https://platform.opentargets.org/target/ENSG00000129152/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7611","ensembl":"ENSG00000129152","uniprot":"P15172","entrez":"4654","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Braun et al, EMBO J, 1989, \"Differential expression of myogenic determination genes in muscle cells: possible autoactivation by the Myf gene products\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2583111/","biology":"Acts as a transcriptional activator that promotes transcription of muscle-specific target genes and plays a role in muscle differentiation. Together with MYF5 and MYOG, co-occupies muscle-specific gene promoter core region during myogenesis. Induces fibroblasts to differentiate into myoblasts. Interacts with and is inhibited by the twist protein. This interaction probably involves the basic domains of both proteins. Location: Nucleus (UniProt). Locus 11p15.1 (HGNC).","whereFound":["Sarcomas: Open Targets association 0.60 with sarcoma (MONDO_0005089)","Colorectal cancer: Open Targets association 0.53 with colorectal cancer (MONDO_0005575)","Rhabdomyosarcoma: Open Targets association 0.57 with rhabdomyosarcoma (MONDO_0005212); CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},"route":"/targets/myod1/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"},{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"colorectal","kind":"cancer","name":"Colorectal cancer","route":"/cancers/colorectal/"},{"id":"rhabdomyosarcoma","kind":"cancer","name":"Rhabdomyosarcoma","route":"/cancers/rhabdomyosarcoma/"},{"id":"sarcoma","kind":"cancer","name":"Sarcomas (soft tissue, bone, GIST)","route":"/cancers/sarcoma/"}]}}