CTDP1 Back

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1

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NCBI Description of CTDP1

This gene encodes a protein which interacts with the carboxy-terminus of the RAP74 subunit of transcription initiation factor TFIIF, and functions as a phosphatase that processively dephosphorylates the C-terminus of POLR2A (a subunit of RNA polymerase II), making it available for initiation of gene expression. Mutations in this gene are associated with congenital cataracts, facial dysmorphism and neuropathy syndrome (CCFDN). Alternatively spliced transcript variants encoding different isoforms have been described for this gene.

Community Annotation of CTDP1 Add / Edit CTDP1: 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

CTDP1 is highly significantly mutated in
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CTDP1 is significantly mutated in
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CTDP1 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 CTDP1