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

  1. GO Gene Ontology, KEGG Kyoto Encyclopedia of Genes and Genomes, REAC Reactome TF TRANSFAC.