Table 3.
Genes involved in CNVs related to cell surface receptor signaling pathway and heart development
| Known signal pathwaya | Gene number | Hit no./total gene | Gene list for gain (172genes) in this study | Gene list for loss (113 genes) in this study |
|---|---|---|---|---|
| AKT pathway (VEGF, Insulin, MAPK, ErbB) (KEGG) | 423 | 5 | CACNG3, CHP2, PRKCB | CASP3, CRKL b |
| FGF pathway (regulation of actin cytoskeleton) (KEGG) | 212 | 1 | - | CRKL b |
| Hedgehog-Bmp pathway (KEGG) | 56 | 1 | BMP5 | - |
| Notch pathway (Netpath) | 100 | 2 | EN1 | CASP3 |
| Notch pathway (KEGG) | 44 | 0 | - | - |
| TGF-BMP pathway (KEGG) | 84 | 1 | BMP5 | - |
| Wnt pathway (Netpath) | 121 | 1 | PRKCB | - |
| Wnt pathway (KEGG) | 264 | 3 | CACNG3,CHP2,PRKCB | - |
| total | 1304 | 14/285 |
aCHD-related pathway from KEGG and Netpath, the overlapping genes between different datasets were merged
bgenes which were included in CNVs related to DiGeorge syndrome