Laboratory of  Human Molecular Genetics and Genomic Disorders
  The University of Western Ontario
 

This web interface provides a tool to predict the effects of sequence changes that alter mRNA splicing in human diseases. We designed the system to evaluate changes in splice site strength based on information theory-based models of donor and acceptor splice sites.

The resource has been updated and improved by its previous interation. It has been updated with the lastest genomic coordinates (HG19), the newest mRNA tables (UCSC), known SNPs (dbSNP135), and updated donor and acceptor weight matrices. In this iteration, we introduce a method to predict potential isoform structures and their relative abundance.

Please register before you utilize this resource What is this resource?

Notice to ASSA Users: We have initiated a line of software products for prediction of functionally-significant, non-coding variants in complete genome or exome sequences. Comprehensive genome-scale analysis is now possible for mutations which completely or partially inactivate mRNA splice sites or activate cryptic splicing. The first Shannon pipeline product is now available from our distributor, CLC-Bio. It uses the same information theory-based binding site analysis available on this server.