The G→C rs590352 in the Protein-Coding Region of ATXN7L3B Gene Upregulates Its Expression In Vivo.

Abstract excerpt

Previously using the omics data on allele-asymmetric gene expression (RNA-seq) and allele-asymmetry in the binding of regulatory proteins (ChIP-seq), we have determined rs590352 G→C as a potential regulatory polymorphism. Substitution G→C is situated in the protein-coding region of gene ATXN7L3B and is synonymic. The product of this gene competes with protein ATXN7L3 of the DUB module of transcription coactivator...

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