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Table 6 Gene ontology analysis of significantly over- and underrepresented genes

From: Analysis of copy number variants by three detection algorithms and their association with body size in horses

 

Number of reference genes (Homo sapiens)

Number of genes in CNV regions (Horse)

Expected

Raw p-value

Bonferroni corrected p-value for multiple testing

Biological process-overrepresented genes

Response to stress

586

17

3.60

1.34E-07

2.28E-05

G-protein coupled receptor protein signaling pathway

1042

22

6.41

3.99E-07

6.82E-05

Muscle contraction

613

17

3.77

2.50E-07

4.28E-05

Sensory perception

864

13

5.31

2.65E-03

4.53E-01

Phagocytosis

101

6

0.62

4.25E-05

7.28E-03

Macrophage activation

352

8

2.16

1.58E-03

2.71E-01

Response to stimulus

1921

22

11.81

3.19E-03

5.46E-01

Cyclic nucleotide metabolic process

109

6

0.67

6.46E-05

1.10E-02

Nerve-nerve synaptic transmission

122

7

0.75

1.20E-05

2.06E-03

Synaptic transmission

756

12

4.65

2.51E-03

4.30E-01

Biological process-underrepresented genes

Cell cycle

1867

3

11.48

2.47E-03

4.22E-01

Transcription from RNA polymerase II promoter

2343

2

14.41

3.30E-05

5.64E-03

Regulation of transcription from RNA polymerase II promoter

1780

1

10.95

1.37E-04

2.33E-02

Transcription

2353

2

14.47

3.11E-05

5.31E-03

Primary metabolic process

8037

16

49.43

3.67E-11

6.28E-09

Nucleobase, nucleoside, nucleotide and nucleic acid metabolic process

3987

8

24.52

2.75E-05

4.70E-03

Cellular component organization

1496

2

9.20

4.22E-03

7.21E-01

Mesoderm development

1621

2

9.97

2.14E-03

3.67E-01

Proteolysis

1230

1

7.56

3.69E-03

6.30E-01

Metabolic process

8351

17

51.36

1.78E-11

3.04E-09

Protein metabolic process

3295

3

20.26

6.38E-07

1.09E-04

  1. The software PANTHER was used for the evaluation of 45 CNV regions detected by all three algorithms. In five CNV regions we could not detect any genes for evaluation.