Extended Data Fig. 8: Transcription-mediated eQTLs (hQTL/eQTLs) are more tissue-specific than splicing-mediated eQTLs (sQTL/eQTLs).
From: Global impact of unproductive splicing on human gene expression
(a) A set of transcription-mediated eQTLs (hQTL/eQTL colocalization) identified in our source dataset was compared to a set of splicing-mediated eQTLs (sQTL/eQTL colocalization without nominal hQTL signal), by estimating the SNP:gene effect across 38 GTEx tissues (columns) for each eGene (rows). Row-wise summary statistics were calculated and plotted as extra columns. (b) Row-wise summary statistics are plotted as cumulative distributions for visual contrast. From left to right, we see that (1) the absolute effect size in the Geuvadis LCL discovery dataset is slightly greater for hQTL/eQTLs than sQTL/eQTLs. Despite this, the sQTL/eQTLs have a (2) larger median effect size across GTEx tissues, and (3) have a smaller standard deviation of effect size across tissues. P values from two-sided Mann-Whitney test.
