Fig. 2: Splicing variability can be mapped accurately, and it is mostly cis-regulated.
From: A basic framework to explain splice-site choice in eukaryotes
A A schematic of the sequences surrounding two competing splice-sites in TOR1AIP1 is shown. B Manhattan plot of the splice-site mutation at chr1:179,889,309. SpliSER-GWAS analysis identifies causal SNP for variation in the usage of splice-sites at the TOR1AIP1 locus in humans. The splice-site mutation at chr1:179,889,309 (309) allows the usage of chr1:179,889,312 (312) as a splice-site, and variation in the usage of both sites map to the 309 polymorphism. Scatter plot of splice-site positions and their highest associated SNPs in the human heart (C), Drosophila (D) and Arabidopsis (E) across corresponding genomes. Colour scale represent the proportion of variance explained (PVE) by the associated top SNP. The sizes of the dots are also correlated with PVE.
