Figure 4.

Illustration of neuromuscular disease-associated proteins involved in membrane remodeling. A high resolution figure can be found and downloaded together with the Supplementary Material file. (A) The summarized known genes involved in both myopathy and neuropathy, which encode essential proteins for phosphoinositides equilibrium, membrane remodeling and trafficking based on previous studies (Berger et al., 2006; Cowling et al., 2012). Proteins are classified to groups based on the steps they are involved in membrane remodeling, and related diseases are also listed. (B) GO over-representation analysis with input genes (n = 7) are selected from (A). Then 20 additional interactors added to the dataset, respectively according to their combined confidence score. Protein-Protein interaction (PPI) information visualized with Cytoscape-string app. The network map shows 27 PPI which has the highest scores for the given set of genes. In the map proteins are represented via nodes; the confidence scores are represented via interaction line colors; the enrichment terms are represented with donut slices surrounding each node. (C) A total of 27 genes which have found to be the most significant in the StringDB analysis was used for the over-representation analysis. First, 30 Gene-ontology Cellular Component terms enriched in the analysis are shown in (A). The colors represent the FDR adjusted p-values for each term. (D) The cnet plot shows the linkage between genes and first 10 Gene Ontology Cellular Component (GO:CC) terms in which those genes are over-represented. The size of GO term nodes represents the count of genes which are over-represented in that term.