Table 1 sSNVs were annotated with a set of 10 optimized features spanning five distinct classes of infomration relevant to assessing the harmfulness of sSNVs
Feature name | Description | Type |
|---|---|---|
Sequence feature | ||
 DSP | Mutation site distance to the nearest splice site | Integer |
Function regions annotation | ||
 TFBS | Whether the variant is in transcription factor binding site? | Bool |
Splicing | ||
 MDE | Minimum distance as a proportion of half the exon | Numeric |
 DVE | Distance of the variant across the exon as a proportion | Numeric |
 ese-dens | Density of neighborhood inference-exonic splicing enhancers hexamers in the exon sequence | Numeric |
 MES | Max splice site score | Numeric |
 SR- | SR-protein motifs lost | Numeric |
 dPSIZ | The z-score of dPSI (the predicted change in percent-inclusion due to the variant, reported as the maximum across tissues) relative to the distribution of dPSI that are due to common variant | Numeric |
Conservation | ||
 verPhyloP | Vertebrate PhyloP at the mutation position at mutation position | Numeric |
Translation efficiency | ||
 TE | The tRNA adaptation index of the tRNA usage | Numeric |