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Table 2 Gene Ontology/functional enrichment analysis of up and downregulated DEGs associated with DBA patients. The FDR and p-value cut-off criteria was set > 0.05. The table is enriched with GO biological processes, Molecular Functions and KEGG pathways

From: Identification of novel drug targets for diamond-blackfan anemia based on RPS19 gene mutation using protein-protein interaction network

Category

Term

Count

p-value

False discovery rate

GO-BP:0000122

negative regulation of transcription from RNA polymerase II promoter

44

6.19E-11

1.10E-07

GO-BP:0006935

chemo taxis

14

7.72E-07

0.001365

GO-BP:0006954

inflammatory response

30

3.82E-10

6.77E-07

GO-BP:0006955

immune response

28

6.64E-08

1.17E-04

GO-BP:0008284

positive regulation of cell proliferation

28

5.10E-07

9.02E-04

GO-BP:0008285

negative regulation of cell proliferation

25

1.01E-06

0.001791

GO-BP:0009612

response to mechanical stimulus

10

1.97E-06

0.003493

GO-BP:0030335

positive regulation of cell migration

16

3.39E-06

0.005999

GO-BP:0032496

response to lipopolysaccharide

18

2.31E-08

4.10E-05

GO-BP:0034097

response to cytokine

10

6.52E-07

0.001153

GO-BP:0042127

regulation of cell proliferation

15

1.68E-05

0.029732

GO-BP:0042517

positive regulation of tyrosine phosphorylation of Stat3 protein

9

5.71E-07

0.001010

GO-BP:0043410

positive regulation of MAPK cascade

11

3.88E-06

0.006861

GO-BP:0045944

positive regulation of transcription from RNA polymerase II promoter

45

2.14E-07

3.78E-04

GO-BP:0048661

positive regulation of smooth muscle cell proliferation

12

1.95E-08

3.45E-05

GO-BP:0070098

chemokine-mediated signaling pathway

10

9.53E-06

0.016859

GO-BP:0071222

cellular response to lipopolysaccharide

13

2.14E-06

0.003778

GO-BP:0071356

cellular response to tumor necrosis factor

14

2.30E-07

4.07E-04

GO-BP:0071456

cellular response to hypoxia

11

1.80E-05

0.031815

GO-BP:0006564

L-Serine biosynthetic Process

4

1.35E-06

0.002131

GO-BP:0008652

Cellular amino acid biosynthetic process

5

3.07E-05

0.048645

GO-CC:0005576

extracellular region

60

1.27E-07

1.71E-04

GO-CC:0005615

extracellular space

61

6.12E-11

8.24E-08

GO-CC:0048471

perinuclear region of cytoplasm

30

3.33E-06

0.004483

GO-MF:0005515

protein binding

209

1.90E-07

2.80E-04

GO-MF:0005102

receptor binding

24

2.07E-07

3.05E-04

GO-MF:0008009

chemokine activity

9

3.05E-06

0.004492

KEGG_Pathway

TNF signaling pathway

22

7.91E-13

1.01E-09

KEGG_Pathway

Osteoclast differentiation

16

3.16E-06

0.004022

KEGG_Pathway

Chemokine signaling pathway

18

1.52E-05

0.019366

KEGG_Pathway

Cytokine-cytokine receptor interaction

20

2.02E-05

0.025631

KEGG_Pathway

Rheumatoid arthritis

12

2.97E-05

0.037766

KEGG_Pathway

Biosynthesis of amino acids

9

3.22E-07

0.000387

KEGG_Pathway

Biosynthesis of antibiotics

12

3.11E-06

0.003751

KEGG_Pathway

Glycine, serine and threonine metabolism

6

2.62E-05

0.031616