Fig. 1: SV landscapes in 786-O, OS-RC-2, and HEK293T cell lines.
From: Structural variation drives enhancer hijacking via 3D genome disruption in ccRCC
a Circos plot illustrating the genome-wide distribution of 786-O high-confidence SVs of identified by Sniffles, cuteSV, and NanoSV, and integrated by SURVIVOR. The tracks from the outermost to innermost circles represent deletions, insertions, duplications, with the innermost green curve indicating inversions and the purple curve translocations. b Venn plot depicting the intersection of structural variants in two ccRCC cell lines (786-O and OS-RC-2) and one normal renal cell line (HEK293T), with counts shown. c Histograms displaying the length distribution of different types of ccRCC SVs. d Distribution of SVs in various genomic regions in 786-O. Distribution of standardized total SV burden (gray: complex SV, light blue: deletion, green: duplication, orange: insertion, yellow: inversion, purple: translocation) across chromosomes in 786-O (e) and OS-RC-2 (f). g Pipeline for identifying cancer-related genes with exons directly impacted by SVs in 786-O and OS-RC-2. ccRCC cancer genes were defined as those annotated by COSMIC or ranked among the top 30 ccRCC single nucleotide variation genes in TCGA. h IGV image showing a heterozygous deletion on chromosome 3 covering HIF1A in 786-O and a heterozygous duplication on chromosome 3 covering HIF1A in OS-RC-2. i Ribbon image showing a heterozygous deletion on chromosome 3 covering HIF1A in 786-O. j Ribbon image showing a heterozygous duplication on chromosome 3 covering HIF1A in OS-RC-2.
