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Table 4 Significantly enriched gene ontology (GO) terms from the genes involved in CNVs of VSD patients

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

 

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

  1. P-value: Corrected by Bonferroni and cutoff is 0.05