WBSCR17 Back

Williams-Beuren syndrome chromosome region 17

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NCBI Description of WBSCR17
This gene encodes an N-acetylgalactosaminyltransferase. This gene is located centromeric to the common deleted region in Williams-Beuren syndrome (WBS), a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. This protein may play a role in membrane trafficking.

Community Annotation of WBSCR17 Add / Edit WBSCR17: 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

WBSCR17 is highly significantly mutated in
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WBSCR17 is significantly mutated in
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WBSCR17 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 WBSCR17