FexSplice

FexSplice predicts a splicing consequence of a single nucleotide variation (SNV) at the first nucleotide of an exon (Fex-SNV). FexSplice predicts the splicing effect of Fex-SNV only when the first nucleotide in the reference sequence is G. Probabilities are ranged from 0 (no effect on splicing) to 1 (impact on the splicing of the downstream exon). Fex-SNV with a probability less than 0.5 is predicted to be splicing-insensitive, while those with a probability of 0.5 or more are predicted to be splicing-affecting. When two or more transcripts exist at an SNV, FexSplice predicts the effects of splicing for all the relevant transcripts. Pre-processed genome-wide scores of FexSplice are available under the “Download” tab.

Genome assembly version 
Genomic coordinate Chr :  

Example: g.63918136C>A on chromosome 17 (GRCh38/hg38) in GH1 causes aberrant splicing, whereas g.72345550C>T on chromosome 15 (GRCh38/hg38) in HEXA does not cause aberrant splicing (Fu et al. Nucleic Acids Res, 39: 4396-4404, 2011).