Table 3

Enriched gene ontology categories in genic CNVs

P-value^a

Number of genes

All CNVs

Deletions

Duplications

GO ID

Domain

All

Deletions

Duplications

Gene ontology term

9.48e-02

-

3.12e-03

GO:0032787

BP

5

0

5

1. Monocarboxylic acid metabolic process

5.00e-06

6.32e-04

1

GO:0022610

BP

14

7

1

1. Biological adhesion

5.00e-06

6.32e-04

1

GO:0007155

BP

14

7

1

2. Cell adhesion

2.67e-11

1.36e-06

1

GO:0016337

BP

14

7

1

3. Cell-cell adhesion

7.31e-13

2.37e-07

1

GO:0007156

BP

14

7

1

4. Homophilic cell adhesion

3.56e-03

6.29e-02

1

GO:0071944

CC

18

8

2

1. Cell periphery

2.68e-04

1.76e-01

1

GO:0016020

CC

47

16

20

1. Membrane

2.15e-03

4.88e-02

1

GO:0005886

CC

18

8

2

2. Plasma membrane

3.37e-04

6.08e-01

3.64e-01

GO:0044425

CC

40

13

19

1. Membrane part

8.74e-05

2.49e-01

3.45e-01

GO:0031224

CC

39

13

18

2. Intrinsic to membrane

6.07e-05

2.17e-01

2.92e-01

GO:0016021

CC

39

13

18

3. Integral to membrane

5.97e-02

1

3.82e-02

GO:0004872

MF

16

4

12

1. Receptor activity

-

1

2.66e-02

GO:0038023

MF

18

3

11

2. Signaling receptor activity

1.96e-02

1

1.27e-02

GO:0004888

MF

16

3

11

3. Transmembrane signaling receptor activity

1.49e-03

1

5.21e-04

GO:0004930

MF

15

3

11

4. G-protein coupled receptor activity

6.22e-06

1

9.88e-06

GO:0004984

MF

12

2

9

4. Olfactory receptor activity

3.18e-04

7.11e-05

1

GO:0005509

MF

17

10

1

1. Calcium ion binding

5.20e-01

-

9.98e-03

GO:0005506

MF

6

0

6

1. Iron ion binding

5.04e-03

1

6.44e-03

KEGG:04740

ke

7

1

5

1. Olfactory transduction

^aSignificant P-values are in bold. P-values were determined using a hierarchical multiple testing procedure. Indented numbers before the GO terms indicate relative depth of the term in the hierarchy. BP, biological process; CC, cellular component; MF, molecular function; ke, KEGG pathway.

Berglund et al. Genome Biology 2012 13:R73   doi:10.1186/gb-2012-13-8-r73