To obtain insight into putative biological mechanisms of prioritized genes, the GENE2FUNC process annotates these genes in biological context (Fig. 1; see Methods for details). Specifically, biological information for each input gene is provided to gain insight into previously associated diseases as well as drug targets by mapping OMIM19 ID and DrugBank20 ID. Tissue specific expression patterns based on GTEx v6 RNA-seq data8 for each gene are visualized as an interactive heatmap. Beside the single gene level analyses, overrepresentation in sets of differentially expressed genes (DEG; sets of genes which are more (or less) expressed in a specific tissue compared to other tissue types) for each of 53 tissue types based on GTEx v6 RNA-seq data8 is also provided to identify tissue specificity of prioritized genes (Methods; Supplementary Table 3). Enrichment of prioritized genes in biological pathways and functional categories is tested using the hypergeometric test against gene sets obtained from MsigDB21 and WikiPathways22. The proportions of overlapping genes, enrichment P-value and which input genes are overlapping with the tested gene sets are visualized in plots as well as tables, which provides quick overview of the shared biological functions of prioritized genes.
