EpiMut: Alignment-independent tool for functional annotation of amino acid substitutions in epigenetic factors

EpiMut is software for functional annotation of AASs in epigenetic factors that is independent from sequence alignments and homology search. It is based on the biochemical and physicochemical characteristics of amino acids and digital signal processing approach in protein sequence analysis. EpiMut is a command line application that provides prediction scores for AASs in 19 epigenetic factors – ARID1A, ASXL1, ATM, ATRX, BCOR, CREBBP, DNMT3A, EP300, EZH2, JAK2, KMT2A, KMT2C, KMT2D, NSD1, SETD2, SF3B1, SPEN, TET2, TP53. It classifies AAS as neutral or disease-related. EpiMut models were generated for each gene separately and they represent Naïve Bayes classifiers trained on the EpiMut dataset (link).

EpiMut is written in JAVA language and is available as standalone application, which can be executed on any operating system containing Java Virtual Machine. In order to run the EpiMut program it is necessary to install Java Runtime Environment 8 (JRE), which can be found for Windows, Linux, Mac OS and Solaris systems at: Java SE Runtime Environment 8 - Downloads

EpiMut is a free software released under Apache License, Version 2.0.

EpiMut application with documentation is provided bellow.

Type	Filename	Size	Downloads	Link
Binaries	EpiMut_Binaries.zip	14.2 MB	1253
Documentation	EpiMut_Manual.pdf	128 KB	5345

If using EpiMut, please cite:
Gemovic B, Perovic V, Davidovic R and Veljkovic N. (2019) EpiMut: Alignment-independent tool for functional annotation of amino acid substitutions in epigenetic factors. In submission.