Figure 3

Effect of genetic variation on the Exonic Splicing Enhancers (ESEs) according to ESE prediction tool. ESE finder enables to recognize the potential ESE sites. The elevation of the colored bars represents the motif scores and the girth of the bars indicates the length of the motif. Bars in red, yellow, blue, purple and green indicate potential binding sites for Serine-Arginine (SR) proteins SF2/ASF, SRp55, SC35, SF2/ASF (IgM-BRCA1) and SRp40, respectively. Panel-I signifies the ESE sequence with the allele not posing risk in the population under study and panel-II denotes the ESE sequence with the risk allele in the studied population. From the figure, we can predict that there is a change in the potential ESE sites as can be seen from change in the bars (change in the potential splicing sites) that might increase the disease susceptibility (Human Splicing Finder (HSF) 3.1and ESE finder 3.0).