FRAS1 Back

Fraser syndrome 1

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NCBI Description of FRAS1
This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Mutations in this gene cause Fraser syndrome, a multisystem malformation that can include craniofacial, urogenital and respiratory system abnormalities. Alternative splicing results in multiple transcript variants.

Community Annotation of FRAS1 Add / Edit FRAS1: 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

FRAS1 is highly significantly mutated in
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FRAS1 is significantly mutated in
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FRAS1 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 FRAS1