Skip to main content

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

From: Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism

  Func (86)a LoFs (16) Mis (70)
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)
  1. aThe number in the header and row names denotes the size of the list. The number of overlapped genes between candidate DNVs and functional/diseases gene sets and p value (in brackets) are listed in main cells