exTSP: Expression-based Tissue-Specific Pathogenicity predictor for missense variant interpretation

exTSP is a transcript- and tissue-aware framework that prioritizes missense variants by integrating isoform-level expression with calibrated pathogenicity predictions. Unlike conventional predictors that treat isoforms as functionally equivalent and ignore tissue context, exTSP highlights variants most likely to disrupt functionally relevant transcripts in disease-relevant tissues.
Use exTSP to:

• prioritize candidate missense variants in a tissue-aware manner

• resolve which transcript is most relevant for a given variant or disease

• generate supporting evidence for Variants of Uncertain Significance (VUS)

• visualize tissue- and isoform-specific patterns across GTEx tissues and BrainSpan developmental stages (where available)

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The exTSP paper can be found here (link will be updated). If you find exTSP useful in your work, please cite:
Kakati T, Jain S, Sharma H, Pejaver V, Radivojac P, Iakoucheva LM. Improving Missense Variant Effects Predictors using Tissue Context and Splicing Isoform Expression. (Year). (Journal / preprint link forthcoming)