ASXL1 Back

additional sex combs like 1 (Drosophila)

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NCBI Description of ASXL1

This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. The protein encoded by this gene functions as a ligand-dependent co-activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1. Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Alternative splicing results in multiple transcript variants.

Community Annotation of ASXL1 Add / Edit ASXL1: Annotations

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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).


ASXL1 is highly significantly mutated in
combined cohort
83 patients (1%)
ASXL1 is significantly mutated in
Acute myeloid leukemia
5 patients (2%)
ASXL1 is near significance in
Lung squamous cell carcinoma
9 patients (5%)
Head and neck
10 patients (2%)

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

Data details

Mutation list for ASXL1