Table 4.
Significantly enriched gene ontology (GO) terms from the genes involved in CNVs of VSD patients
| ID | Name | Genes | Genes input | Genes in Annotation | P-value | |
|---|---|---|---|---|---|---|
| Molecular Function | ||||||
| 1 | GO:0003682 | chromatin binding | HIRA,SOX2, PRKCB, ING2,TP63, BCL6,PAX3 | 7 | 394 | 1.12E-04 |
| 2 | GO:0043565 | sequence-specific DNA binding | PAX3, EN1, SOX2, TBX1, TP63, LBX1, BCL6 | 7 | 741 | 7.04E-03 |
| 3 | GO:0003700 | sequence-specific DNA binding transcription factor activity | HIRA, EN1, SOX2, PAX3, TBX1, TP63, LBX1, BCL6 | 8 | 1052 | 8.35E-03 |
| 4 | GO:0001071 | nucleic acid binding transcription factor activity | HIRA, EN1, SOX2, PAX3, TBX1, TP63, LBX1, BCL6 | 8 | 1053 | 8.41E-03 |
| Biological Process | ||||||
| 1 | GO:0007507 | heart development | MYH11, TXNRD2, CRKL, FGF12, PDLIM3, TBX1, LBX1,CASP3,PAX3 | 9 | 466 | 9.36E-06 |
| 2 | GO:0072358 | cardiovascular system development | MYH11,TXNRD2,CRKL,FGF12,PDLIM3,TBX1,LBX1,CASP3, PRKCB,PAX3 | 10 | 889 | 1.85E-04 |
| 3 | GO:0072359 | circulatory system development | MYH11,TXNRD2,CRKL,FGF12,PDLIM3,TBX1,LBX1,CASP3, PRKCB,PAX3 | 10 | 889 | 1.85E-04 |
| 4 | GO:0042127 | regulation of cell proliferation | SOX2,CASP3,PAX3,BCL6,COMT,IGFBP7,LBX1,IL4R,TP63,TBX1,CHP2 | 11 | 1338 | 1.21E-03 |
| 5 | GO:0045596 | negative regulation of cell differentiation | SOX2, MED15, TBX1, TP63, LBX1, IL4R,BCL6 | 7 | 527 | 7.52E-03 |
| Cellular Component | ||||||
| 1 | GO:0005667 | transcription factor complex | SOX2, PAX3, LBX1, ING2,TP63 | 5 | 343 | 7.40E-03 |
| 2 | GO:0044427 | chromosomal part | BCL6, PLK1, NDE1, ING1, TP63, HIRA | 6 | 596 | 1.00E-02 |
| Mouse Phenotype | ||||||
| 1 | MP:0003421 | abnormal thyroid gland development | PAX3, TBX1,CRKL | 3 | 14 | 1.14E-02 |
| 2 | MP:0020135 | abnormal heart ventricle thickness | MYH11, TXNRD2, PAX3, LBX1, BCL6 | 5 | 126 | 3.50E-02 |
| 3 | MP:0006284 | absent hypaxial muscle | PAX3, LBX1 | 2 | 3 | 3.71E-02 |
| 4 | MP:0004914 | absent ultimobranchial body | PAX3, TBX1 | 2 | 3 | 3.71E-02 |
P-value: Corrected by Bonferroni and cutoff is 0.05