PUS1 Back

pseudouridylate synthase 1

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NCBI Description of PUS1
This gene encodes a pseudouridine synthase that converts uridine to pseudouridine once it has been incorporated into an RNA molecule. The encoded enzyme may play an essential role in tRNA function and in stabilizing the secondary and tertiary structure of many RNAs. A mutation in this gene has been linked to mitochondrial myopathy and sideroblastic anemia. Alternate splicing results in multiple transcript variants.

Community Annotation of PUS1 Add / Edit PUS1: 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).


Legend

PUS1 is highly significantly mutated in
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PUS1 is significantly mutated in
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PUS1 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 PUS1