PRICKLE1 Back

prickle homolog 1 (Drosophila)

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NCBI Description of PRICKLE1

This gene encodes a nuclear receptor that may be a negative regulator of the Wnt/beta-catenin signaling pathway. The encoded protein localizes to the nuclear membrane and has been implicated in the nuclear trafficking of the transcription repressors REST/NRSF and REST4. Mutations in this gene have been linked to progressive myoclonus epilepsy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 3.

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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

PRICKLE1 is highly significantly mutated in
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PRICKLE1 is significantly mutated in
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PRICKLE1 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 PRICKLE1