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Table 1 Processes overrepresented for proteins in ASD/SD protein–protein interaction network

From: Calculating genetic risk for dysfunction in pleiotropic biological processes using whole exome sequencing data

GO.ID

Term

Anno

Sig

Exp

FE

p-value

FDR

FDR

All ASD&SD Genes

GO:0,035,176

social behavior

51

16

2.59

5.79

1.94 × 10–8

3.11 × 10–4

6.23 × 10–4

GO:2,000,463

positive regulation of excitatory postsynaptic potential

28

12

1.42

7.75

5.24 × 10–8

4.19 × 10–4

1.64 × 10–3

GO:0,086,010

membrane depolarization during action potential

36

11

1.83

6.01

1.09 × 10–6

5.80 × 10–3

1.15 × 10–2

GO:0,051,968

positive regulation of synaptic transmission

32

10

1.62

6.17

2.50 × 10–6

1.00 × 10–2

1.69 × 10–2

GO:0,019,228

neuronal action potential

34

10

1.73

5.78

4.64 × 10–6

1.37 × 10–2

1.11 × 10–1

GO:0,021,987

cerebral cortex development

117

20

5.94

3.37

5.12 × 10–6

1.37 × 10–2

1.20 × 10–1

GO:2,000,310

regulation of NMDA receptor activity

36

10

1.83

5.46

8.20 × 10–6

1.87 × 10–2

1.00 × 10–0

GO:0,007,158

neuron cell–cell adhesion

17

7

0.86

8.14

1.05 × 10–5

2.11 × 10–2

1.15 × 10–2

GO:0,034,765

regulation of ion membrane transport

473

50

24.01

2.08

1.86 × 10–5

3.31 × 10–2

8.96 × 10–2

  1. Shown are significant results, based on a false discovery rate (FDR)-corrected threshold, from conditional gene set overrepresentation analyses of ASD and sleep duration (SD) candidate genes with predicted damaging variants in the Simons Simplex Collection that encoded proteins with direct evidence for interaction. Abbreviations: GO Gene Ontology, Anno Genes annotated in process, Sig PDV-containing gene assigned to process, Exp Number of genes expected to be assigned to process by chance, FE Fold enrichment (Sig/Exp). P-values represent the probability that PDV-containing genes would be assigned to the biological process by chance. Also included is the FDR-adjusted p-value for analyses run using all ASD and SD candidate genes regardless of evidence for interactions