Table 2 Significant trends in functional enrichment of rare SNPs across the three ethnic groups according to g:Profiler.
From: Enrichment of a subset of Neanderthal polymorphisms in autistic probands and siblings
Group | Category | Term name | Term ID | P(adj) |
|---|---|---|---|---|
BNH (217 genes) | GO: biological process | Cytoskeleton organization | GO:0007010 | 3.959 × 10−2 |
GO: cellular compartment | Plasma membrane bounded cell projection | GO:0120025 | 4.830 × 10−3 | |
Cytoskeleton | GO:0005856 | 1.794 × 10−2 | ||
Axoneme | GO:0005930 | 1.794 × 10−2 | ||
REAC | Signaling by cytosolic FGFR1 fusion mutants | REAC:R-HSA-1839117 | 4.935 × 10−2 | |
WHS (199 genes) | GO: biological process | Anatomical structure development | GO:0048856 | 3.713 × 10−8 |
Cell-cell adhesion | GO:0098609 | 7.508 × 10−5 | ||
Nervous system development | GO:0007399 | 3.396 × 10−4 | ||
Plasma membrane bounded cell projection organization | GO:0120036 | 1.984 × 10−3 | ||
Neurogenesis | GO:0022008 | 1.809 × 10−2 | ||
GO: cellular compartment | Cell projection | GO:0042995 | 3.126 × 10−3 | |
Cytoskeleton | GO0005856 | 1.542 × 10−2 | ||
WNH (171 genes) | GO: biological process | Homophilic cell adhesion via plasma membrane adhesion molecules | GO:0007156 | 9.939 × 10−5 |
Anatomical structure development | GO:0048856 | 1.106 × 10−3 | ||
Cell adhesion | GO:0007155 | 1.298 × 10−3 | ||
Developmental process | GO:0032502 | 9.000 × 10−3 | ||
Cell junction organization | GO:0034330 | 2.743 × 10−2 | ||
Negative regulation of multicellular process | GO:0051241 | 4.845 × 10−2 | ||
GO: cellular compartment | Cell projection | GO:0042995 | 5.384 × 10−3 | |
Membrane | GO:0016020 | 2.815 × 10−2 | ||
Plasma membrane bounded cell projection | GO:0120025 | 2.817 × 10−2 | ||
Cell junction | GO:0030054 | 4.430 × 10−2 |