ABHD11 Back

abhydrolase domain containing 11

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NCBI Description of ABHD11

This gene encodes a protein containing an alpha/beta hydrolase fold domain. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced transcript variants have been described, but their biological validity has not been determined.

Community Annotation of ABHD11 Add / Edit ABHD11: 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).


ABHD11 is highly significantly mutated in
ABHD11 is significantly mutated in
ABHD11 is near significance in

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

Data details

Mutation list for ABHD11