Figure 1.
Disease-causing INDELs tend to alter the binding sites of RBPs to a greater extent than neutral INDELs. The X-axis plots the proportion of disease-causing INDELs (derived from the HGMD) that change the RBP-binding affinity with a posterior probability of >0.5. The Y-axis plots the proportion of neutral INDELs (from 1000 Genomes Project data) that change the RBP-binding affinity with a posterior probability of >0.5. Each dot represents one RBP and is plotted against the proportion of disease-causing INDELs and neutral INDELs that have the potential to change RBP binding. Among the 53 RBPs, 28 were affected at a significantly (P-value < 0.05) higher rate by INDELs from HGMD than neutral ones (filled ellipses under the 45 degree line). Additionally, only two RBPs showed a significantly lower affection rate by INDELs from HGMD than neutral ones (P-value < 0.05). The open ellipses indicate RBPs with an insignificant ratio.