EX-SKIP is simple utility that compares the ESE/ESS profile of a wild-type and a mutated allele to quickly determine which exonic variant has the highest chance to skip this exon. It calculates the total number of ESSs, ESEs and their ratio. Specifically, it computes the number of RESCUE-ESEs (Fairbrother 2004; Fairbrother 2002), FAS-ESSs (Wang 2004), PESEs/PESSs (Zhang 2004), neighbourhood inference (Stadler 2006) and EIE/IIEs (Zhang 2008) for each segment. The input are two exonic sequences (strictly in UPPERCASE) in multiple FASTA format up to a total length of 4000 bp. The intronic sequences (strictly in lowercase) can be included but are ignored. The output is a simple table followed by a short statement which allele is more likely to skip the exon. |
Raponi, M., Kralovicova, J., Copson, E., Divina, P., Eccles, D., Johnson, P., Baralle, D., Vorechovsky, I. (2011) Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6. Hum Mutat., 32, 436-444. [Pubmed] [Fulltext]
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