Skip to main content

Table 1 Summary of original data sets used in this study

From: MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing

Data set name Type Description Variants Genes
Disease-causing splice altering variants (DM-SAVs) Splice altering variants (SAVs) Inherited disease-causing coding region mutations that disrupt pre-mRNA splicing, derived from HGMD 1,189 453
Disease-causing splice neutral variants (DM-SNVs) Splice neutral variants (SNVs) Inherited disease-causing missense mutations not reported to disrupt splicing derived from the same set of genes as the DM-SAVs. The majority are not expected to have any effect on exon splicing but approximately 25% may nevertheless disrupt splicing 7,729 364
Polymorphic splice neutral variants (SNP-SNVs) Splice neutral variants (SNVs) Putatively ‘neutral’ common coding region SNPs (minor allele frequency >0.3) from the 1000 Genomes Project. The majority are not expected to have any effect on pre-mRNA splicing 7,339 3,773