Fig. 4
From: SVFX: a machine learning framework to quantify the pathogenicity of structural variants
Example of a highly pathogenic cancer deletion that influences coding and regulatory elements in the genome. This figure presents a highly pathogenic deletion that disrupts entirely or partially the coding and regulatory regions of three distinct genes: RIT1, SYT11, and GON4L. The regulatory elements are marked by peaks observed in the histone mark (H3K27ac) signals across multiple tissues. The Hi-C matrix plot shows the TAD boundaries disrupted by this deletion