CCDC40 Back

coiled-coil domain containing 40

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NCBI Description of CCDC40
This gene encodes a protein that is necessary for motile cilia function. It functions in correct left-right axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control ciliary beat. Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing results in multiple transcript variants.

Community Annotation of CCDC40 Add / Edit CCDC40: 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

CCDC40 is highly significantly mutated in
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CCDC40 is significantly mutated in
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CCDC40 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 CCDC40