EXT1 Back

exostoses (multiple) 1

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NCBI Description of EXT1

This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses.

Community Annotation of EXT1 Add / Edit EXT1: 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).


EXT1 is highly significantly mutated in
EXT1 is significantly mutated in
EXT1 is near significance in

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

Data details

Mutation list for EXT1