BCS1L Back

BCS1-like (yeast)

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NCBI Description of BCS1L
This gene encodes a homolog of the S. cerevisiae bcs1 protein which is involved in the assembly of complex III of the mitochondrial respiratory chain. The encoded protein does not contain a mitochondrial targeting sequence but experimental studies confirm that it is imported into mitochondria. Mutations in this gene are associated with mitochondrial complex III deficiency and the GRACILE syndrome. Five alternatively spliced transcripts encoding the same protein have been described.

Community Annotation of BCS1L Add / Edit BCS1L: 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

BCS1L is highly significantly mutated in
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BCS1L is significantly mutated in
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BCS1L 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 BCS1L