POLR1D Back

polymerase (RNA) I polypeptide D, 16kDa

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NCBI Description of POLR1D
The protein encoded by this gene is a component of the RNA polymerase I and RNA polymerase III complexes, which function in the synthesis of ribosomal RNA precursors and small RNAs, respectively. Mutations in this gene are a cause of Treacher Collins syndrome (TCS), a craniofacial development disorder. Alternative splicing results in multiple transcript variants.

Community Annotation of POLR1D Add / Edit POLR1D: 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

POLR1D is highly significantly mutated in
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POLR1D is significantly mutated in
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POLR1D 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 POLR1D