TRPS1 Back

trichorhinophalangeal syndrome I

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NCBI Description of TRPS1
This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III.

Community Annotation of TRPS1 Add / Edit TRPS1: 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

TRPS1 is highly significantly mutated in
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TRPS1 is significantly mutated in
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TRPS1 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 TRPS1