Fig. 4

Detailed analysis of the studied variants. a-c -schemes of the genomic loci incorporated into minigene vectors and visualization of minigene-specific splicing products are shown for each variant. The mean amounts of transcript isoforms from three biological replicates are quantified by fragment analysis and are shown as percentages of all isoforms (an isoform is shown if it constitutes more than 5%). The crossed gray bar – retention of the intron fragment upstream of PE-6 (the minigene artifact). EX V1 and EX V2 – two constitutively spliced exons of the minigene vector. Asterisks indicate the splice sites with their relative strength (MaxEntScan score)