Figure 5.

Gene and protein interaction of genes affected by variants. (A) GSEA was used to find enriched processes among the genes affected by the HcDNVs. Y-axis indicates the top 20 enriched categories and the x-axis indicates the −log10 of the FDR scores. (B) DOMINO was used to find subnetworks of protein–protein interactions and the cellular processes that are enriched for those genes. One significant network is shown above where the red active nodes are genes affected by the HcDNVs and the blue inactive nodes are intermediate proteins added by DOMINO. The top five enriched processes are: DNA-binding transcription factor activity RNA polymerase II specific, RNA polymerase II transcription regulatory region sequence specific DNA binding, DNA-binding transcription factor activity, and transcription regulatory region nucleic acid binding.