Extended Data Fig. 6: SV-eQTL mediation by SV-pQTL. | Nature Neuroscience

Extended Data Fig. 6: SV-eQTL mediation by SV-pQTL.

From: Integrating whole-genome sequencing with multi-omic data reveals the impact of structural variants on gene regulation in the human brain

Extended Data Fig. 6

a, The locus plot shows a 3.7 kb deletion (in red) deleting the splicing acceptor sites on exon 16 of the gene ACOT11 (from which is an SV-eQTL and SV-pQTL). Genes and histone peaks colored in red had significant associations (FDR < 0.05) with the SV. b, Mediation analysis performed on 112 biologically independent samples with both RNA-seq and proteomics data available, supports the mediation of the gene MROH7 SV-eQTL via SV-pQTL of ACOT11 (complete mediation posterior probability = 0.59). The scatter plot on the left shows the correlation between both phenotypes, x-axis is the residual mRNA expression of MROH7 while the y-axis is the residual protein abundance levels for ACOT11. Pearson correlation coefficient (R) and respective P-value as well as a linear regression line are shown in the plot. The box plots show the median in the central line, the box spans the first to the third quartiles and the whiskers extend 1.5 times the IQR from the box. Nominal P-values and effect sizes from the linear regression model are listed on the top of each box plot.

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