Fig. 1: Three types of quantitative trait loci (QTLs); gene eQTL, isoform eQTL and i-rQTL. | Nature Communications

Fig. 1: Three types of quantitative trait loci (QTLs); gene eQTL, isoform eQTL and i-rQTL.

From: Splicing QTL analysis focusing on coding sequences reveals mechanisms for disease susceptibility loci

Fig. 1

a Gene A has 2 isoforms, isoform 1 and isoform 2. A locus affecting the expression level of gene A is defined as gene eQTL. A locus affecting the expression level of isoform 1 and/or 2 is defined as i-eQTL (isoform eQTL). A locus affecting the isoform ratio of isoform 1 and/or 2 is defined as i-rQTL (isoform ratio QTL). b An example of gene having both gene-eQTL and i-eQTL effects but not i-rQTL effect (the upper panel) and that having both i-eQTL and i-rQTL effects but not gene-eQTL effect (the lower panel). c The three types of QTLs are not independent but overlapping concepts. † and ‡ indicate the genes in the upper and lower panels of b, respectively. d Data preparation and processing from 6 peripheral blood cells for the QTL analyses. e Distributions of top QTL variants relative to the gene body. In the figure, the length of the gene body is 30,000 bp, which is the average length of all isoforms.

Back to article page