SIL1 Back

SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)

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NCBI Description of SIL1

This gene encodes a resident endoplasmic reticulum (ER), N-linked glycoprotein with an N-terminal ER targeting sequence, 2 putative N-glycosylation sites, and a C-terminal ER retention signal. This protein functions as a nucleotide exchange factor for another unfolded protein response protein. Mutations in this gene have been associated with Marinesco-Sjogren syndrome. Alternate transcriptional splice variants have been characterized.

Community Annotation of SIL1 Add / Edit SIL1: 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

SIL1 is highly significantly mutated in
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SIL1 is significantly mutated in
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SIL1 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 SIL1