GTF2IRD1 Back

GTF2I repeat domain containing 1

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NCBI Description of GTF2IRD1
The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants.

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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

GTF2IRD1 is highly significantly mutated in
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GTF2IRD1 is significantly mutated in
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GTF2IRD1 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 GTF2IRD1