Genome-wide Characterization of Exons as Regulatory Elements
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Protein-coding DNA makes up only 2% of the human genome, with the rest containing key regulatory information. Current methods often miss the regulatory roles of coding DNA. Using computational and experimental methods, we identified 13,481 coding exons with strong regulatory signatures in human. We integrated DNAse catalogs and STARR-seq experiments to explore these exons regulatory roles and used a promoter capture Hi-C compendium and the ENCODE-rE2G model to identify their gene targets. Using variants catalogs and luciferase assays, we explored coding mutations impact in regulatory exons.
