EMILIN1 Back

elastin microfibril interfacer 1

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NCBI Description of EMILIN1
This gene encodes an extracellular matrix glycoprotein that is characterized by an N-terminal microfibril interface domain, a coiled-coiled alpha-helical domain, a collagenous domain and a C-terminal globular C1q domain. The encoded protein associates with elastic fibers at the interface between elastin and microfibrils and may play a role in the development of elastic tissues including large blood vessels, dermis, heart and lung.

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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

EMILIN1 is highly significantly mutated in
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EMILIN1 is significantly mutated in
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EMILIN1 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 EMILIN1