WBSCR27 Back

Williams Beuren syndrome chromosome region 27

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NCBI Description of WBSCR27
This gene encodes a protein belonging to ubiE/COQ5 methyltransferase family. The gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.22-q11.23.

Community Annotation of WBSCR27 Add / Edit WBSCR27: 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).


Legend

WBSCR27 is highly significantly mutated in
(none)
WBSCR27 is significantly mutated in
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WBSCR27 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for WBSCR27