TABLE 4.
Enriched Gene Ontology Related to Cardiac Development*
| Term | Description | GO type | CNV type |
Cohort 1 |
Cohort 2 |
Total |
References citing full pathway relevant to cardiac development or component members |
|||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Case | Control | p-value | Case | Control | p-value | p-value | FDR | |||||
| GO:0051090 | Regulation of sequence- specific DNA binding transcription factor activity |
Biological process |
dup | 11 | 23 | 3.64E-02 | 15 | 16 | 1.80E- 05 |
6.45E-06 | 2.38E-04 |
HAND2 (Vincentz et al., 2011), SHH (Washington Smoak et al., 2005), MYOCD (Huang et al., 2012), FZD2 (van Gijn et al., 2001; Yu et al., 2010) NODAL (Koefoed et al., 2014) TGFB1 (Engelmann et al., 1992) |
| GO:0055007 | Cardiac muscle cell differentiation |
Biological process |
dup | 2 | 0 | 3.02E-02 | 6 | 2 | 3.08E- 04 |
1.98E-05 | 6.17E-04 |
MYOCD (see above), NKX2.5 (McElhinney et al., 2003)GATA4 (Tomita-Mitchell et al., 2007), MEF2C (Dodou et al., 2004), HEY2 (Donovan et al., 2002; Sakata et al., 2006) |
| GO:0031513 | Nonmotile primary cilium | Cellular component |
all | 9 | 13 | 7.95E-03 | 7 | 12 | 0.0204 | 5.42E-04 | 8.48E-03 | (Li et al., 2015; Tobin and Beales, 2009) |
| GO:0035924 | Cellular response to vascular endothelial growth factor stimulus |
Biological process |
all | 3 | 2 | 3.97E-02 | 4 | 2 | 0.00695 | 6.42E-04 | 9.84E-03 | (Dor et al., 2001) |
| GO:2000018 | Regulation of male gonad development |
Biological process |
all | 2 | 0 | 3.02E-02 | 3 | 1 | 0.0137 | 6.77E-04 | 1.02E-02 |
CITED2 (Weninger et al., 2005), ZFPM2 (Pizzuti et al., 2003), SOX9 (Lincoln et al., 2007) |
| GO:0051276 | Chromosome organization |
Biological process |
dup | 18 | 49 | 4.93E-02 | 16 | 36 | 0.0058 | 1.12E-03 | 1.90E-02 | (Zaidi et al., 2013)(Silversides et al., 2012) |
| GO:0046425 | Regulation of JAK-STAT cascade |
Biological process |
dup | 4 | 3 | 2.03E-02 | 5 | 7 | 0.0286 | 1.87E-03 | 2.90E-02 | (Jorge et al., 2009; Tartaglia and Gelb, 2005; Xu and Qu, 2008) |
| GO:0017015 | Regulation of transforming growth factor beta receptor signaling pathway |
Biological process |
dup | 4 | 4 | 3.52E-02 | 4 | 4 | 0.0249 | 2.19E-03 | 3.26E-02 | (Arthur and Bamforth, 2011; Ma et al., 2016) |
| GO:0032321 | Positive regulation of Rho GTPase activity |
Biological process |
dup | 6 | 10 | 4.50E-02 | 4 | 3 | 0.0142 | 2.34E-03 | 3.46E-02 | (Wei et al., 2002) |
| GO:2001236 | Regulation of extrinsic apoptotic signaling pathway |
Biological process |
dup | 8 | 13 | 1.95E-02 | 6 | 10 | 0.0287 | 2.80E-03 | 3.98E-02 | (Fisher et al., 2000; Lu et al., 2011; Poelmann and Gittenberger-de Groot, 2005; Rezvani et al., 2000) |
| GO:0051865 | Protein autoubiquitination | Biological process |
dup | 4 | 4 | 3.52E-02 | 4 | 5 | 0.0394 | 3.54E-03 | 4.71E-02 | (Fouladkou et al., 2010) |
| GO:0090092 | Regulation of transmembrane receptor protein serine/threonine kinase signaling pathway |
Biological process |
dup | 6 | 10 | 4.50E-02 | 5 | 7 | 0.0286 | 3.74E-03 | 4.94E-02 | (Gaspar et al., 2003; Nebigil et al., 2000; Nebigil and Maroteaux, 2003) |
*
Full list in Table S6.