sQTL affecting intron usage, a SNP within intron of TBC1D7 is found within CLIP-defined binding sites for hnRNP C as well as other RBPs (Fig. 4c). Thus, incorporating RBP binding sites as a functional annotation allows for improving our accuracy in selecting plausible variants that may disrupt binding of splicing factors to cause the alternative-splicing event. Further biochemical studies will be required to understand the full regulatory program that orchestrates the disease-related splicing changes.
