ESEfinder

ESEfinder identifies putative exonic splicing enhancers (ESEs) in exon sequences to predict how point mutations affect pre-mRNA splicing mediated by human SR proteins.

Key Features:

• Identification of ESEs: Analyzes exon sequences to identify ESE motifs recognized by human SR proteins SF2/ASF, SC35, SRp40, and SRp55.
• Mutation Impact Prediction: Predicts whether exonic point mutations disrupt ESEs and may lead to exon skipping.
• Alternative Splicing Focus: Assesses ESEs in alternatively spliced exons to evaluate their roles in generating protein isoforms.

Scientific Applications:

• Genetic disease variant interpretation: Interprets how coding point mutations perturb pre-mRNA splicing in studies of genetic disorders.
• Alternative splicing research: Investigates regulation of alternative splicing and the contribution of ESEs to isoform diversity.
• Therapeutic strategy development: Supports identification of disrupted ESEs for development of splice-modulating therapeutic approaches.

Methodology:

Compares exon sequences against known consensus ESE motifs for classes associated with human SR proteins to assess presence and integrity of ESEs.