Figure 2.

Schematic diagram of ERBB2 exon 16 skipping and RNA-seq validation. (A) The positions of all ERBB2 exon 16 skipping variations identified in 18 patients are displayed in relation to the ERBB2 gene. Point mutations are highlighted in red. Deleted regions are shown by the light blue boxes with inserted nucleotides labelled in white if applicable. (B) SASHIMI plots for reads alignment at ERBB2 locus of patient 4 with NSCLC; patient 6 with rectal cancer; and patient 9 with ovarian cancer. The number of reads corresponding to specific exon–exon junctions (shown as loops) is labelled for each junction. The coverage of RNA-seq for each sample is indicated on the y-axis. Genomic coordinates of chromosome 17 show the location of ERBB2 exon 15–17. Schematic illustrations of wild-type ERBB2 and exon-16-skipping ERBB2 are shown corresponding to the genomic coordinates. NSCLC, non-small cell lung cancer.