SBDS Back

Shwachman-Bodian-Diamond syndrome

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NCBI Description of SBDS

This gene encodes a member of a highly conserved protein family that exists from archaea to vertebrates and plants. The encoded protein may function in RNA metabolism. Mutations within this gene are associated with Shwachman-Bodian-Diamond syndrome. An alternative transcript has been described, but its biological nature has not been determined. This gene has a closely linked pseudogene that is distally located.

Community Annotation of SBDS Add / Edit SBDS: 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

SBDS is highly significantly mutated in
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SBDS is significantly mutated in
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SBDS 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 SBDS