B9D1 Back

B9 protein domain 1

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NCBI Description of B9D1
This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different genes. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Three alternatively spliced transcript variants that encode different proteins have been described for this gene.

Community Annotation of B9D1 Add / Edit B9D1: 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

B9D1 is highly significantly mutated in
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B9D1 is significantly mutated in
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B9D1 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 B9D1