{"entity":{"id":"ascl1","kind":"target","name":"ASCL1","aka":["achaete-scute family bHLH transcription factor 1","Achaete-scute homolog 1","ASH1","HASH1","bHLHa46"],"tldr":"ASCL1 (Achaete-scute homolog 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 Atypical teratoid/rhabdoid tumour.","summary":"Transcription factor that plays a key role in neuronal differentiation: acts as a pioneer transcription factor, accessing closed chromatin to allow other factors to bind and activate neural pathways. Directly binds the E box motif (5'-CANNTG-3') on promoters and promotes transcription of neuronal genes. The combination of three transcription factors, ASCL1, POU3F2/BRN2 and MYT1L, is sufficient to reprogram fibroblasts and other somatic cells into induced neuronal (iN) cells in vitro.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:738","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:738"},{"label":"UniProt P50553","url":"https://www.uniprot.org/uniprotkb/P50553/entry"},{"label":"NCBI Gene 429","url":"https://www.ncbi.nlm.nih.gov/gene/429"},{"label":"Ensembl ENSG00000139352","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000139352"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["atrt"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["lineage-plasticity-neuroendocrine","transcription-addiction"],"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 1 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":"ASCL1","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:738","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:738","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P50553","url":"https://www.uniprot.org/uniprotkb/P50553/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ASCL1","url":"https://civicdb.org/features/436","note":"1 evidence items, 0 assertions, 1 variants; diseases: Atypical Teratoid Rhabdoid Tumour (GraphQL API, CC0)"}],"hgnc":"HGNC:738","ensembl":"ENSG00000139352","uniprot":"P50553","entrez":"429","biology":"Transcription factor that plays a key role in neuronal differentiation: acts as a pioneer transcription factor, accessing closed chromatin to allow other factors to bind and activate neural pathways. Directly binds the E box motif (5'-CANNTG-3') on promoters and promotes transcription of neuronal genes. The combination of three transcription factors, ASCL1, POU3F2/BRN2 and MYT1L, is sufficient to reprogram fibroblasts and other somatic cells into induced neuronal (iN) cells in vitro. Plays a role at early stages of development of specific neural lineages in most regions of the CNS, and of several lineages in the PNS. Essential for the generation of olfactory and autonomic neurons. Acts synergistically with FOXN4 to specify the identity of V2b neurons rather than V2a from bipotential p2 progenitors during spinal cord neurogenesis, probably through DLL4-NOTCH signalling activation. Location: Nucleus (UniProt). Locus 12q23.2 (HGNC).","whereFound":["Atypical teratoid/rhabdoid tumour: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},"route":"/targets/ascl1/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"}],"cancer":[{"id":"atrt","kind":"cancer","name":"Atypical teratoid/rhabdoid tumour (ATRT)","route":"/cancers/atrt/"}],"pathway":[{"id":"lineage-plasticity-neuroendocrine","kind":"pathway","name":"Lineage plasticity & neuroendocrine transformation","route":"/pathways/lineage-plasticity-neuroendocrine/"},{"id":"transcription-addiction","kind":"pathway","name":"Transcriptional machinery & addiction","route":"/pathways/transcription-addiction/"}]}}