PREPL Back

prolyl endopeptidase-like

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NCBI Description of PREPL

The protein encoded by this gene belongs to the prolyl oligopeptidase subfamily of serine peptidases. Mutations in this gene have been associated with hypotonia-cystinuria syndrome, also known as the 2p21 deletion syndrome. Several alternatively spliced transcript variants encoding either the same or different isoforms have been described 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

PREPL is highly significantly mutated in
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PREPL is significantly mutated in
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PREPL 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 PREPL