Figure 3

Examples of transcription factors and exon source-target pairs. An eSNP (red tick mark) along a source gene (blue circle), either in an exon or TF (blue rectangle), is associated (solid red line for exon, dashed for TF) with levels of transcription of the target gene (green circle). The source and target genes interact via nodes (black circles) and edges (black solid lines) in the PPI network. Each node belongs to a PPI cluster (purple cloud) with a functional annotation. (a) Network motif I1-FFL [42]: TCF7L2 activates MYC (in the presence of CTNNB1) but also represses MYC by activating the repressor TLE4 (via an eSNP) . (b) The shortest path on the PPI network between PIDD source and its gene target PLK3. Binding sites of TP53 were found in the promoter of PLK3. TP53 is annotated as a zinc ion binding protein. There was a significant correlation between the expression of the source and target genes. TCF7L2, transcription factor 7-like 2; T-cell specific; TLE4 transducin-like enhancer of split 4; MYC, v-myc avian myelocytomatosis viral oncogene; catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1); PIDD, p53-induced death domain protein; PLK3, polo-like kinase 3; EFEMP2, Epidermal growth factor-containing fibulin-like extracellular matrix protein 2; TP53, tumor protein p53.