Figure 1. Cancer genes with validated cryptic splicing.

mRNA of ABL1, CBFB, GATA3 and PALB2, which each have validated cryptic splicing mutations confirmed using tumour-matched RNA-Seq data. Full gene lengths are displayed with vertical black bars outlining exon boundaries. The location of the cryptic variant is denoted by the red V, and the variant consequence is highlighted by white (wild type), dark grey (exonic deletion), and red (frameshift mutation). Conserved domains and protein interactions are labeled by the yellow and blue horizontal bars. In ABL1, the catalytic and C-terminal F-actin binding domains are disrupted. In PALB2, the region that interacts with BRCA2 is truncated. In the GATA3 aberrant transcript, the second zinc finger domain and a conserved motif crucial for DNA binding and protein function are affected by the altered reading frame.