GTF2I Back

general transcription factor II, i

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NCBI Description of GTF2I
This gene encodes a multifunctional phosphoprotein with roles in transcription and signal transduction. It is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 7, 13 and 21.

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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

GTF2I is highly significantly mutated in
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GTF2I is significantly mutated in
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GTF2I 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 GTF2I