TCOF1 Back

Treacher Collins-Franceschetti syndrome 1

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NCBI Description of TCOF1
This gene encodes a nucleolar protein with a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Multiple transcript variants encoding different isoforms have been found for this gene.

Community Annotation of TCOF1 Add / Edit TCOF1: 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

TCOF1 is highly significantly mutated in
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TCOF1 is significantly mutated in
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TCOF1 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 TCOF1