Extended Data Fig. 2: BCR::ABL1 event summary and exonic breakpoints exploration.
From: Timing and trajectory of BCR::ABL1-driven chronic myeloid leukaemia
Panels a-c, show base pair resolution of the 3 fusions with exonic breakpoints: a. PD56961 b. PD57332 with an insertion of one nucleotide. Purple zigzag denotes the end of a fusion induced stop codon (TAA). c. PD57335 with an insertion of 6 nucleotides. d. Gel image of PD57335 BCR::ABL1 PCR product (well 5), showing that despite the breakpoint on chromosome 22 falling within exon 15, a standard e14a2 transcript was detected at the RNA level. Well 1 contains HyperLadder™ 100 bp (Meridian Bioscience) with positive control PCR products in wells 2–4 (E13A2, E14A2 and E1A2 respectively). The experiment was performed once. e. Splicing probabilities for PD57335 BCR::ABL1 fusion using SpliceAI. The vertical panels define 4 regions: the preceding exon to the chr22 breakpoint (BCR exon 14), the breakpoint within BCR exon 15, the intronic breakpoint within ABL1 intron1 and the following ABL1 exon 2. The rows describe: reference genes, reference splice probabilities between 0-1 for reference sequence with donor in green and acceptor in purple, fusion splice probabilities between 0-1 for reconstructed fusion sequence with donor in green and acceptor in purple, fusion sequence including 5 bp non-templated insertion, and fusion reading frame showing the consequence of the fusion sequence in grey, with the stop codon shown in red.
