identification of coding region substitutions that disrupt pre-mRNA splicing. Applying
MutPred Splice to human disease-causing exonic mutations suggests that 16% of mutations
causing inherited disease and 10 to 14% of somatic mutations in cancer may disrupt pre-
mRNA splicing. For inherited disease, the main mechanism responsible for the splicing
defect is splice site loss, whereas for cancer the predominant mechanism of splicing …