COL10A1 Back

collagen, type X, alpha 1(Schmid metaphyseal chondrodysplasia)

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NCBI Description of COL10A1
This gene encodes the alpha chain of type X collagen, a short chain collagen expressed by hypertrophic chondrocytes during endochondral ossification. Unlike type VIII collagen, the other short chain collagen, type X collagen is a homotrimer. Mutations in this gene are associated with Schmid type metaphyseal chondrodysplasia (SMCD) and Japanese type spondylometaphyseal dysplasia (SMD).

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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

COL10A1 is highly significantly mutated in
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COL10A1 is significantly mutated in
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COL10A1 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 COL10A1