CIRH1A Back

cirrhosis, autosomal recessive 1A (cirhin)

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NCBI Description of CIRH1A
This gene encodes a WD40-repeat-containing protein that is localized to the nucleolus. Mutation of this gene causes North American Indian childhood cirrhosis, a severe intrahepatic cholestasis that results in transient neonatal jaundice, and progresses to periportal fibrosis and cirrhosis in childhood and adolescence.

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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

CIRH1A is highly significantly mutated in
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CIRH1A is significantly mutated in
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CIRH1A 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 CIRH1A