IntSplice ver. 2.0

IntSplice predicts a splicing consequence of a single nucleotide variation (SNV) at intronic positions -50 to -3 close to the 3' end of an intron of the human genome. Compared to our previous ver. 1.x that was modeled by Support Vector Machine (SVM), ver. 2.0 used a newly built training dataset that included 54% more pathogenic and common SNVs, and was modeled by Gradient Boosting (GB). Pre-processed genome-wide scores of IntSplice ver. 2.0 are available under the “Download” tab.

Genome assembly version 
Genomic coordinate Chr :  

Example: g.73550880G>A on chromosome 10 (GRCh37/hg19) or g.71791123G>A on chromosome 10 (GRCh38/hg38) identified in a patient with Usher syndrome is at the 9th nucleotide from the 3’ end of intron 45 of CDH23 [von Brederlow et al. Hum Mutat. 2002, Mar;19(3):268-73].

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