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 |