RS1 Back

retinoschisis (X-linked, juvenile) 1

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of RS1
This gene encodes an extracellular protein that plays a crucial role in the cellular organization of the retina. The encoded protein is assembled and secreted from photoreceptors and bipolar cells as a homo-oligomeric protein complex. Mutations in this gene are responsible for X-linked retinoschisis, a common, early-onset macular degeneration in males that results in a splitting of the inner layers of the retina and severe loss in vision.

Community Annotation of RS1 Add / Edit RS1: Annotations

No community annotations yet for RS1.
Sort mutations by: Tumor type  Mutation type  Position  
Straightedge cursor Expand

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

RS1 is highly significantly mutated in
(none)
RS1 is significantly mutated in
(none)
RS1 is near significance in
(none)

Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for RS1