EFEMP1 Back

EGF-containing fibulin-like extracellular matrix protein 1

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NCBI Description of EFEMP1
This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.

Community Annotation of EFEMP1 Add / Edit EFEMP1: Annotations

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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

EFEMP1 is highly significantly mutated in
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EFEMP1 is significantly mutated in
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EFEMP1 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 EFEMP1