COL4A5 Back

collagen, type IV, alpha 5 (Alport syndrome)

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NCBI Description of COL4A5
This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Alternatively spliced transcript variants have been identified for this gene.

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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

COL4A5 is highly significantly mutated in
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COL4A5 is significantly mutated in
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COL4A5 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 COL4A5