Table 1 GSEA of DNVs in functional/disease clusters implicated in ASD (italics: p < 0.05)

RBFOX1-1 (186)

2 (0.342)

0 (1)

2 (0.318)

RBFOX1-2 (547)

5 (0.469)

1 (0.522)

4 (0.542)

FMRP-1 (936)

15 (0.045)

2 (0.415)

13 (0.045)

FMRP-2 (831)

13 (0.136)

3 (0.157)

10 (0.256)

ECGs (928)

10 (0.341)

3 (0.132)

7 (0.598)

Hpsd (1429)

15 (0.021)

3 (0.181)

12 (0.027)

PSD-95 (107)

1 (0.392)

0 (1)

1 (0.348)

ARC (25)

0 (1)

0 (1)

0 (1)

mGluR5 (37)

0 (1)

0 (1)

0 (1)

NMDAR (59)

0 (1)

0 (1)

0 (1)

Presynaptic active zone (204)

1 (0.498)

0 (1)

1 (0.457)

Presynaptic (330)

3 (0.252)

1 (0.239)

2 (0.421)

Vesicles (104)

1 (0.367)

0 (1)

1 (0.281)

CRFs (55)

1 (0.358)

0 (1)

1 (0.361)

HMEs (146)

4 (0.023)

2 (0.009)

2 (0.301)

DEs (411)

2 (0.461)

1 (0.268)

1 (0.707)