RPGRIP1L Back

RPGRIP1-like

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NCBI Description of RPGRIP1L
The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). Two transcript variants encoding different isoforms have been found for this gene.

Community Annotation of RPGRIP1L Add / Edit RPGRIP1L: Annotations

No community annotations yet for RPGRIP1L.
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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

RPGRIP1L is highly significantly mutated in
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RPGRIP1L is significantly mutated in
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RPGRIP1L 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 RPGRIP1L