Bar Plot from Scientific Research

UpSet51plot of the alterations made by deep intronic variants that promote the inclusion of pseudoexons, as determined by applying the splicing heuristics to the reference (Ref) and alternative (Alt) sequences. Alterations are divided into variants that were deemed by the splicing requirements (seesplicing requirements) to create a usable splice site not present in the reference sequence (green), variants that strengthened a cryptic splice site that pre-existed in the reference sequence (orange), and variants where the mechanism of pseudoexon alteration could not be determined using the requirements (blue). The number of variants that matched each feature change is shown in the left horizontal bar plot, where variants are colored according to whether the variant created a canonical AG in a candidate 3'SS (yellow) or a canonical GT in a candidate 5'SS (red) or altered a splicing motif at a non-canonical nucleotide (black).

DOI