paperKB
coga / coga-kb
Help
Sign in

Chunk #18 — Results — Gene expression predicts functional differences between KCNJ6 haplotypes

Source
Alcohol reverses the effects of KCNJ6 (GIRK2) noncoding variants on excitability of human glutamatergic neurons.
Embedded
yes

Text

To confirm and extend SNP genotypes, iN cultures were harvested for bulk RNAseq analysis. To identify isoforms, RNAseq data identified only the longer KCNJ6 isoform ENST00000609713 (Fig. 1B), which includes a 3′ exon of 18,112 nucleotides primarily consisting of 3′UTR. We identified 19 additional 3′UTR SNPs linked with the initial three (Supplementary Table 1; red lines in Fig. 1B), constituting a haplotype of 22 variants (synonymous and noncoding) within the expressed isoform of KCNJ6 mRNA, all in a region of linkage disequilibrium (LD; Supplementary Fig. 1C). There are no nonsynonymous variants, therefore, this haplotype is predicted to alter KCNJ6 mRNA stability, translation, or other post-transcriptional processes.