Table 3. Pathway analysis of placental CNVs with g:Profiler²². GO, Gene Ontology functional categories; MI, miRBase.

Significantly overrepresented functional categories			Enrichment analysis
Type	ID	Name	Pathway genes (%)	FDR P-value
Somatic duplication CNVs
GO	0009952	anterior/posterior pattern specification	10.4	1.34 × 10−5
	0007156	homophilic cell adhesion	12.2	3.48 × 10−5
	0048706	embryonic skeletal system development	12.3	2.33 × 10−4
	0005509	calcium ion binding	5.7	2.43 × 10−4
	0072562	blood microparticle	11.3	7.35 × 10−4
	0048704	embryonic skeletal system morphogenesis	13.2	2.13 × 10−3
	0006956	complement activation	14.1	3.00 × 10−2
MI	hsa-miR-210	hsa-miR-210 regulated genes	5.2	3.90 × 10−3
Somatic deletion CNVs
GO	0022402	cell cycle process	5.2	3.49 × 10−5
	0035639	purine ribonucleoside triphosphate binding	4.5	4.60 × 10−5
	1902589	single-organism organelle organization	4.5	1.15 × 10−4
	0032550	purine ribonucleoside binding	4.4	2.33 × 10−4
	0007017	microtubule-based process	6.4	1.87 × 10−3
	0043231	intracellular membrane-bounded organelle	2.9	2.14 × 10−3
	0007067	mitosis	7.1	3.04 × 10−3
	0005829	cytosol	3.8	4.51 × 10−3
	0005874	microtubule	6.6	2.79 × 10−2
Inherited duplication CNVs
	no functional categories significantly enriched
Inherited deletion CNVs
GO	0007565	female pregnancy	5.2	1.54 × 10−6
	0016160	amylase activity	50	8.06 × 10−4
	0008389	coumarin 7-hydroxylase activity	100	1.61 × 10−2
	0004970	ionotropic glutamate receptor activity	16.7	3.22 × 10−2
	0005576	extracellular region	0.6	3.27 × 10−2
	0005234	extracellular-glutamate-gated ion channel activity	15.8	3.81 × 10−2
	0046226	coumarin catabolic process	66.7	4.82 × 10−2
MI	hsa-miR-19a	hsa-miR-19a regulated genes	1.2	1.29 × 10−2