Fig. 2

Splice Aid2 and Alibaba2 gene regulation in silico predictions. a Splice Aid2 graphic outcomes from c.928G > A (p.Glu310Lys) and c.779 T > A, (p.Val260Glu) substituions. Top: For c.928G > A the ESS recognition site for hnRNP A1 is broken after G > A substituion. Below: after c.779 T > A substitution (right) the histogram result shows that, besides the two hnRNPs (H1 and H2) proteins that putatively binds the normal ESS recognition site, a new motif is created, with the potential of being recognized by the hnRNP A1 and by other four SR proteins. Arrows on the left of histograms indicate proteins that bind ESEs and ESSs, respectively. The bars have variable width and height respectively related to the number of nucleotides of the binding site and to its score (binding affinity). Next to each bar there is the label showing the name of the protein predicted to bind to the recognition motif. Below the histogram there are two lines: one with red bars, representing the recognition motifs and with a bracket representing a putative splicing site; the other line represents the DNA sequence analyzed. A green circle highlights the nucleotide substitution. b Alibaba2 gene regulation prediction analysis showing above: wild c.-164C and mutant c.-164 T sequences (highlighted). Wild sequence was recognized by putative transcription factors ETF-1 and GLI3 and, after substitution, these sites were abolished and a new recognition site for putative WT1 transcription factor was created. Below: no change after c.-196C > G substitution