Figure 4.

Contribution of demographic traits to AS variation

(A) Schematic illustration of the different types of splicing events. For each type of splicing event, we present the spliced-in and spliced-out versions of the splicing event. In black is the exonic/intronic sequence that is included in the spliced-in isoform and for which PSI values are calculated.

(B) Cumulative distribution of the number of tissues in which splicing events are AS.

(C) Functional characterization of AS events.

(D) Proportion of AS events associated with a switch between a non-coding and a coding isoform per type of event. Boxplots show the distribution of the proportion of AS events per tissue.

(E) Number of DSEs per tissue and demographic trait. Heatmap cell colors are normalized to maximum value per column.

(F) Proportion of the total tissue AS variation explained by each demographic trait. Top bars are the numbers of tissues for which each demographic trait explains the largest proportion.

(G) Examples of the potential functional consequences of DSEs. Shown are schematic representations of the PFAM domain and the transcript structure of isoforms that either include or exclude the splicing event and that contribute to the DSEs. For each event, PSI values are represented as boxplots with samples stratified by population or age range. Violin plots show the PSI distribution. Points correspond to individual PSI values. The number of individuals in each group is shown within the plot. Bars at the bottom indicate the proportion of alternative splicing variation explained by each demographic trait.

(H) Comparison of the relative contribution of each demographic trait to the total tissue expression and splicing variation explained. For each trait, the average value across tissues is plotted. The error bars correspond to the standard deviation. For each demographic trait, we considered only tissues with at least five DEGs and five DSEs.