Kerfuffle: a web tool for multi-species gene colocalization analysis

TL;DR

Kerfuffle is a web-based tool that enables researchers to analyze and visualize gene colocalization and conservation across multiple species, aiding the study of genome organization and evolution.

Contribution

It introduces a user-friendly platform that integrates multi-species gene clustering, statistical significance testing, and visualization, which was lacking in existing bioinformatics tools.

Findings

Identifies significant gene colocalization across species

Provides conservation estimates of gene clusters

Offers interactive visualization and downloadable results

Abstract

The evolutionary pressures that underlie the large-scale functional organization of the genome are not well understood in eukaryotes. Recent evidence suggests that functionally similar genes may colocalize (cluster) in the eukaryotic genome, suggesting the role of chromatin-level gene regulation in shaping the physical distribution of coordinated genes. However, few of the bioinformatic tools currently available allow for a systematic study of gene colocalization across several, evolutionarily distant species. Kerfuffle is a web tool designed to help discover, visualize, and quantify the physical organization of genomes by identifying significant gene colocalization and conservation across the assembled genomes of available species (currently up to 47, from humans to worms). Kerfuffle only requires the user to specify a list of human genes and the names of other species of interest. Without further input from the user, the software queries the e!Ensembl BioMart server to obtain positional information and discovers homology relations in all genes and species specified. Using this information, Kerfuffle performs a multi-species clustering analysis, presents downloadable lists of clustered genes, performs Monte Carlo statistical significance calculations, estimates how conserved gene clusters are across species, plots histograms and interactive graphs, allows users to save their queries, and generates a downloadable visualization of the clusters using the Circos software. These analyses may be used to further explore the functional roles of gene clusters by interrogating the enriched molecular pathways associated with each cluster.