Fig. 2: Long-read RNA-sequencing validates the predicted alternative transcripts related to the ncBAF complex in SF3B1-mutated CLL.

Sashimi plots illustrating the identified ASEs and alternative splicing patterns in four genes that encode ncBAF complex-related proteins in SF3B1^WT versus SF3B1^MUT CLL; ZEB1 and BRD9 exhibit the top two ASEs in the SE category, while DLST and SERBP1 showcase the top two ASEs in the A3SS category. Sashimi plots for other ncBAF complex-related genes, PLSCR1, TENT4B, CXXC1, DCAF16, and UBP1, are presented in Supplementary Fig. 3. For each gene, the top two sashimi plots within the gray box illustrate the predicted splice variants in SF3B1^WT versus SF3B1^MUT CLL. The colored arc highlights the primary ASE, while lighter arcs represent additional ASEs if present. The gene map indicates the relative location and order of the detected exons in relation to the sequencing results. For each corresponding gene, the lower two sashimi plots show the coverage and splice junction count data from the aligned long-read RNA-seq data from an SF3B1^WT case (RS24) and an SF3B1^MUT case (RS55), both belonging to subset #2 CLL. The direction of the genes is arranged from left to right. WT: wildtype; MUT: mutated; PSI: percent spliced in.