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arylsulfatase E (chondrodysplasia punctata 1)

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NCBI Description of ARSE
Arylsulfatase E is a member of the sulfatase family. It is glycosylated postranslationally and localized to the golgi apparatus. Sulfatases are essential for the correct composition of bone and cartilage matrix. X-linked chondrodysplasia punctata, a disease characterized by abnormalities in cartilage and bone development, has been linked to mutations in 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

ARSE is highly significantly mutated in
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ARSE is significantly mutated in
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ARSE 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 ARSE