Table 2 Heart-related biological processes identified from DMR Gene Ontology
From: Epigenomic signature of major congenital heart defects in newborns with Down syndrome
Comparison | GO Term | Genes |
|---|---|---|
Sex combined | Cardiac muscle contraction | FGF12,PIK3CA,TNNI3 |
| Â | Striated muscle contraction | FGF12,PIK3CA,TNNI3 |
| Â | Heart contraction | FGF12,PIK3CA,TNNI3 |
| Â | Heart process | FGF12,PIK3CA,TNNI3 |
| Â | Ductus arteriosus closure | TFAP2B |
| Â | Determination of dorsal/ventral asymmetry | NBL1 |
| Â | Cellular response to erythropoietin | CD40 |
| Â | Regulation of cardiac conduction | NPR2,TNNI3 |
| Â | Muscle contraction | FGF12,PIK3CA,TNNI3 |
| Â | Skeletal muscle contraction | TNNI3 |
Females only | Dorsal/ventral pattern formation | FOXG1,GLI2,GREM2,INTU,MDFI,SMAD6,SUFU,TCTN1 |
| Â | Negative regulation of relaxation of cardiac muscle | PDE4D |
| Â | Negative regulation of heart contraction | AGTR2,PDE4D |
| Â | Adrenergic receptor signaling pathway involved in heart process | PDE4D |
| Â | Regulation of heart rate by chemical signal | PDE4D |
| Â | Regulation of relaxation of cardiac muscle | PDE4D |
| Â | Aorta development | SMAD6,SUFU,TFAP2B,TGFB2 |
| Â | Regulation of ventricular cardiac muscle cell membrane repolarization | ANK2,WDR1 |
Males only | Septum primum development | ACVR1,GATA4,GJA5,SOX4,TGFB2 |
| Â | Atrial septum primum morphogenesis | ACVR1,GATA4,SOX4,TGFB2 |
| Â | Atrioventricular canal development | CHD7,FOXN4,HAS2,PTPN11 |
| Â | Adult heart development | ADRA1A,CHD7,HAND2,SCUBE1,TCAP |
| Â | Artery smooth muscle contraction | AGT,EDN1,EDN2,HTR2A,MKKS |
| Â | Right ventricular compact myocardium morphogenesis | CHD7 |
| Â | Atrial septum secundum morphogenesis | GATA4 |
| Â | Positive regulation of heart rate | ADRA1A,ADRB1,EDN1,EDN2,EDN3,KCNQ1,PDE4D,RYR2,SCN3B,TACR3,UTS2 |
| Â | Cardiac muscle hypertrophy | AGT,GATA4,GATA6,HDAC4,KDM4A,LEP,PPP3CA,RYR2,TCAP,TIAM1,TTN |
| Â | Positive regulation of heart contraction | ADRA1A,ADRB1,EDN1,EDN2,EDN3,KCNQ1,PDE4D,RGS2,RYR2,SCN3B,TACR3,TGFB2,UTS2 |
| Â | Septum secundum development | GATA4 |
| Â | Cardiac septum morphogenesis | ACVR1,BMP4,BMP7,CHD7,FZD1,FZD2,GATA4,GATA6,GJA5,HES1,HEY1,HEYL,ISL1,JAG1,MSX2,NRP1,PARVA,PITX2,PROX1,RARB,SMAD6,SMAD7,SOX11,SOX4,TBX3,TGFB2,TGFBR2,ZFPM2 |