ASCL1 Back

achaete-scute complex homolog 1 (Drosophila)

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NCBI Description of ASCL1

This gene encodes a member of the basic helix-loop-helix (BHLH) family of transcription factors. The protein activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. This protein plays a role in the neuronal commitment and differentiation and in the generation of olfactory and autonomic neurons. Mutations in this gene may contribute to the congenital central hypoventilation syndrome (CCHS) phenotype in rare cases.

Community Annotation of ASCL1 Add / Edit ASCL1: Annotations

No community annotations yet for ASCL1.
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Figure notes

• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


ASCL1 is highly significantly mutated in
ASCL1 is significantly mutated in
ASCL1 is near significance in

Click on a tumor type to see its full list of significant genes.

Data details

Mutation list for ASCL1