G4mer Variant Effect Predictions

This interface displays the predicted impact of gnomAD genetic variants on RNA G-quadruplex (rG4) formation within transcript regions, as evaluated by G4mer.

Each row represents a variant located in the 5′UTR or 3′UTR of a transcript, with G4mer scores computed for both the reference and alternate alleles. The score delta quantifies the change in predicted rG4 probablity due to the variant. We classified the G4 effect of each variant based on how the predicted rG4 confidence changes between the reference and alternate allele. These categories reflect binary classification flips and confidence shifts.

Effect Ref Score Range Alt Score Range Δ Score Condition Notes
Significantly Breaking Any > 0.7 Any < 0.3 -- Binary classification flip (strong)
Breaking Any > 0.5 Any < 0.5 < -0.2 Binary classification flip
Weakening Any > 0.7 -- < -0.2 Still G4, but weakened confidence
Significantly Forming All < 0.3 Any > 0.7 -- Binary classification flip (strong)
Forming All < 0.5 Any > 0.5 < 0.2 Binary classification flip
Strengthening All < 0.3 -- < 0.2 Still non-G4, but increased confidence

You can filter by region and display additional annotations such as ClinVar significance, sequence context, or predicted G4 effect type.

The search bar supports gene/transcript names or IDs (e.g., EPN3) or variant IDs (e.g., rs780750063).

If you have questions or would like additional support, please post on the BioCiphers forum and tag your post with the G4mer label.

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