BBS9 Back

Bardet-Biedl syndrome 9

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NCBI Description of BBS9

This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore, is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified.

Community Annotation of BBS9 Add / Edit BBS9: 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).


BBS9 is highly significantly mutated in
BBS9 is significantly mutated in
BBS9 is near significance in

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

Data details

Mutation list for BBS9