Workflow from Scientific Research

The flowchart starts on the left, with variant locations categorized as affecting the canonical AG dinucleotides, the first base of the exon (E+1), -3 to -6, the polypyrimidine tract (PPT), or the branchpoint. Each curation step follows a detailed decision pathway to determine the likelihood of a variant impacting splicing (spliceogenicity, abbreviated as %SAV). Rectangular nodes represent decision points concerning the attributes of the variant itself (variant nucleotides are bolded and underlined). Elliptical nodes indicate decisions related to other splicing elements not at the variant site. Diamond nodes denote base cascade rules, prioritizing specific nucleotide bases within a given motif. Variants from the SpliceVarDB (n= 6,764) are categorized using the heuristics depicted in this figure, resulting in subgroups with differing levels of spliceogenicity. Ref, reference nucleotide(s); Alt, variant nucleotide(s);*, only YES is considered, variants outside of this location are not covered by this heuristic; #BPS, number of sequences matching the branchpoint motif YNA.

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