ECE1 Back

endothelin converting enzyme 1

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NCBI Description of ECE1
The protein encoded by this gene is involved in proteolytic processing of endothelin precursors to biologically active peptides. Mutations in this gene are associated with Hirschsprung disease, cardiac defects and autonomic dysfunction. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.

Community Annotation of ECE1 Add / Edit ECE1: 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

ECE1 is highly significantly mutated in
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ECE1 is significantly mutated in
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ECE1 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 ECE1