ePat (extended PROVEAN annotation tool) is a software tool that expands the functionality of PROVEAN: a software tool for predicting whether amino acid substitutions, insertions and deletions will affect the biological function of proteins.

ePat extends the conventional PROVEAN to enable the following two things

(1) To calculate the damage level of insertion/deletion mutations with frameshift and mutations near splice junctions, for which the conventional PROVEAN could not calculate the damage level of these mutations.

(2)Batch processing is used to calculate the damage level of multiple mutations in a mutation list (VCF file) in a single step.

In order to identify variants that are predicted to be functionally important from the mutation list, ePat can help filter out variants that affect biological functions by utilizing not only point mutation, and insertion/deletion mutation that does not cause frameshift, but also frameshift, stop gain, and splice variant.

Tokyo University
Taku Ito, M.S.
Kazutoshi Yoshitake, Ph.D.

GitHub
https://github.com/itotaku1225/ePat

BioArchive
https://www.biorxiv.org/content/10.1101/2021.12.21.468911v1