Figure 1

An example SpliceScan II output predicting an effect of mutation. IVS2+2delC annotated in DBASS5 [7] as causing familial pulmonary arterial hypertension [56], a single nucleotide deletion which disrupts a strong non-canonical 5'GC SS (shown as purple circle) and causes activation of two cryptic alternatively committed canonical 5'SSs located -60 and -108 nucleotides upstream of the original SS. Here we successfully predict an effect of mutation on the original allele shown in (A), where two alternatively used aberrant exonic isoforms activated as shown in (B). SpliceScan II predicted 3'SSs are represented as black-and-white triangles, 5'SSs are black-and-white circles, predicted exons are shown as blue rectangles. The more intense the color a displayed signal, the higher its predicted strength. In (C) we show an example of SpliceScan II textual output listing factors contributing to non-canonical GC exon score assignment shown in (A).