Symetrics is a framework that leverages the existing synonymous variant effect measure to generate gene-wise proportion score (Symetrics Z-Score) which aggregates existing synonymous variant effect measures. These scores were also compared to existing gene-wise scores such as pLI and missense z scores. It also has predictive capability to address the need of evaluating the deleteriousness of synonymous variants.
Features | Tools | Metrics | Description |
---|---|---|---|
Functional Consequence | Synvep | Synvep Score | Probability of human synonymous variant to have an effect |
Splicing Effect | SpliceAI | Max Delta Scores | Derived value from the possible delta scores of the variant |
Splicing Effect | Maximum Entropy Score | MES | A score associated with splicing |
RNA Stability | SURF | SURF Scores | Measure of how a synonymous mutation affects the stability of RNA |
Conservation and Phylogenetic Relevance | SILVA | GERP++ | Measure of conservation for a given synonymous mutation |
Codon Usage | SILVA | RSCU | Relative synonymous codon usage of new codon |
Codon Usage | SILVA | dRSCU | Change in Relative synonymous codon usage caused by mutation |
Sequence Properties | SILVA | CpG_exon | Observed/expected CpG content of exon |
Sequence Properties | SILVA | CpG | Binary values implying whether a mutation changes a CpG or not |
Sequence Properties | SILVA | f_premrna | Relative distance to the end of pre-MRNA |
Sequence Properties | SILVA | f_mrna | Relative distance to the end of mature MRNA |