DOK7 Back

docking protein 7

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of DOK7
The protein encoded by this gene is essential for neuromuscular synaptogenesis. The protein functions in aneural activation of muscle-specific receptor kinase, which is required for postsynaptic differentiation, and in the subsequent clustering of the acetylcholine receptor in myotubes. This protein can also induce autophosphorylation of muscle-specific receptor kinase. Mutations in this gene are a cause of familial limb-girdle myasthenia autosomal recessive, which is also known as congenital myasthenic syndrome type 1B. Alternative splicing results in multiple transcript variants.

Community Annotation of DOK7 Add / Edit DOK7: Annotations

No community annotations yet for DOK7.
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

DOK7 is highly significantly mutated in
(none)
DOK7 is significantly mutated in
(none)
DOK7 is near significance in
(none)

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

Data details


• Mutation list for DOK7