Fig. 4

Analysis of somatic structural variations and SV-affected genes in UBC. a Frequencies of types of SVs (left) as well as underlying mechanisms for deletion (middle) and translocation (right) events across 65 UBC tumors. The colored bar charts display the number of events scaled by the maximum number of events (as noted) in each tumor. TEI transposable element insertion, VNTR variable number of tandem repeat, NHEJ nonhomologous end joining through 0–2 bp homology (0–2) or 1–10 bp insertion (−1 to −10) at breakpoint, alt-EJ alternative end joining through 3–100 bp homology (3, ≥4); FoSTeS/MMBIR, fork stalling and template switching or micro-homology mediated break-induced repair. b Summary of genes affected by SV breakpoints across the whole genome. Each dot represents a SV-affected gene which occurring in ≥5 tumors are shown in magenta (SVs mainly responsible for gene duplication) or blue (SVs mainly responsible for gene deletion), and significantly altered genes (in ≥10% of tumors) are annotated. c Normalized coverage of 12q15 region containing FRS2 gene illustrates FRS2 duplication in six UBCs. The purple ribbons represent the predicted tandem duplication regions, and the genomic location of FRS2 was indicated by the magenta triangle