Synteny: a high throughput web tool to streamline causal gene prioritisation and provide insight into protein function

Abstract

Disease-associated genes can now be identified more readily than their functions can be understood. However, determining which candidates to take forward for functional validation remains a substantial challenge. Assessing whether candidate genes are associated with human phenotypes is a promising approach, although a systematic method to integrate the results of studies in model systems with human genetic data does not currently exist. Here we present Synteny, a powerful tool that enhances the accessibility of human genetic data and enables interactive visualisation of the associations between genes and phenotypes (https://bigproteomics.shinyapps.io/Synteny/). Synteny assists experimental biologists prioritise genes for further investigation, which we demonstrate by interrogating a locus from a published genetic analysis of lifespan in Diversity Outbred mice. To illustrate how Synteny provides unique insights into protein function, we applied it to analyse genes within the solute carrier (SLC) superfamily. Despite many members of the SLC superfamily remaining uncharacterised, unbiased genetic analysis using Synteny identified two potentially novel urate transporters, showcasing Synteny as a powerful tool for identifying functionally important proteins.