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Table 3 Genes involved in CNVs related to cell surface receptor signaling pathway and heart development

From: Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population

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

  
  1. aCHD-related pathway from KEGG and Netpath, the overlapping genes between different datasets were merged
  2. bgenes which were included in CNVs related to DiGeorge syndrome