OPHN1 Back

oligophrenin 1

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NCBI Description of OPHN1
This gene encodes a Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for OPHN1-related X-linked mental retardation with cerebellar hypoplasia and distinctive facial dysmorhphism.

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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

OPHN1 is highly significantly mutated in
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OPHN1 is significantly mutated in
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OPHN1 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 OPHN1