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Table 2 Gene ontology enrichment analysis of human orthologs of the identified genes

From: Variant in NHLRC2 leads to increased hnRNP C2 in developing neurons and the hippocampus of a mouse model of FINCA disease

GO cellular component complete

Homo sapiens REFLIST (20,996)

Observed (19)

Expected

Fold enrichment

 ± 

Raw p-value

FDR

Azurophil granule lumen (GO:0035578)

90

3

0.08

36.84

 + 

7.72E−05

1.94E−02

 → Azurophil granule (GO:0042582)

154

3

0.14

21.53

 + 

3.63E−04

4.86E−02

  → Vesicle (GO:0031982)

3868

11

3.5

3.14

 + 

1.45E−04

2.92E−02

Primary lysosome (GO:0005766)

154

3

0.14

21.53

 + 

3.63E−04

4.56E−02

 → Lysosome (GO:0005764)

708

6

0.65

9.3

 + 

2.91E−05

9.73E−03

  → Lytic vacuole (GO:0000323)

708

6

0.65

9.3

 + 

2.91E−05

1.17E−02

  → Vacuole (GO:0005773)

809

6

0.74

8.14

 + 

6.10E−05

1.75E−02

Secretory granule lumen (GO:0034774)

320

4

0.29

13.81

 + 

1.79E−04

3.27E−02

 → Cytoplasmic vesicle lumen (GO:0060205)

324

4

0.29

13.64

 + 

1.88E−04

3.14E−02

  → Vesicle lumen (GO:0031983)

326

4

0.3

13.56

 + 

1.92E−04

2.97E−02

Extracellular exosome (GO:0070062)

2098

10

1.9

5.27

 + 

3.98E−06

7.99E−03

 → Extracellular vesicle (GO:1903561)

2119

10

1.92

5.21

 + 

4.36E−06

4.37E−03

  → Extracellular organelle (GO:0043230)

2124

10

1.92

5.2

 + 

4.45E−06

2.98E−03

 → Extracellular space (GO:0005615)

3349

10

3.03

3.3

 + 

2.45E−04

3.51E−02

Cytosol (GO:0005829)

5229

14

4.76

2.94

 + 

1.21E−05

6.08E−03

Protein-containing complex (GO:0032991)

5520

13

5.03

2.58

 + 

1.59E−04

3.55E−02

  1. Presented hierarchically with the most specific subclass first, with its parent terms directly below it. Related classes in an ontology are grouped. Results shown for false discovery rate (FDR) < 0.05. (geneontology.org, 22.5.20)