Fig. 5: Model: effects of SNPs and splice factor deregulation on HMMR splicing.

A demonstrates the effects of SNPs, while B shows the effects of PTBP1/2 overexpression on HMMR splicing. These alterations compromise complex A formation and downstream lead to alterations in the first etherification reaction. In the figure, “A” and “(Y)n” represent splicing branch point (BP) and polypyrimidine tract (PPT) of splicing, respectively.