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Table 2 Enrichment analysis of the noncoding regions of genes under positive selection in humans

From: CEGA: a method for inferring natural selection by comparative population genomic analysis across species

Term

Input (Background)

Corrected p value

Pathway (top 10 terms)

 Metabolism

36 (2075)

6.23E − 03

 Porphyrin and chlorophyll metabolism

5 (42)

6.23E − 03

 Neuronal system

13 (402)

6.60E − 03

 Retrograde endocannabinoid signaling

8 (148)

6.60E − 03

 EGF receptor signaling pathway

7 (114)

7.40E − 03

 Signaling by interleukins

16 (619)

9.10E − 03

 Diseases of signal transduction

12 (374)

9.63E − 03

 Cell cycle

16 (629)

1.01E − 02

 Oocyte meiosis

7 (128)

1.17E − 02

 Negative regulation of the PI3K/AKT network

6 (96)

1.49E − 02

Disease (top 10 terms)

 Obesity-related traits

21 (691)

4.41E − 04

 Schizophrenia

9 (181)

5.76E − 03

 Height

12 (395)

1.31E − 02

 Immune response to smallpox (secreted IL-2)

3 (13)

1.69E − 02

 Myocardial infarction (early onset)

3 (14)

1.92E − 02

 Metabolite levels (HVA/MHPG ratio)

3 (17)

2.61E − 02

 Bone mineral density (hip)

3 (18)

2.87E − 02

 Alzheimer’s disease (cognitive decline)

4 (46)

3.00E − 02

 Renal function-related traits (BUN)

3 (19)

3.00E − 02

 Bone mineral density

5 (85)

3.16E − 02

GO (top 20 terms with < 500 background genes)

 Learning or memory

6 (60)

5.45E − 03

 Transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential

5 (35)

5.45E − 03

 Synapse

14 (420)

5.45E − 03

 Postsynapse

7 (93)

5.45E − 03

 Regulation of neuron apoptotic process

4 (17)

5.54E − 03

 Regulation of translation

6 (63)

5.54E − 03

 Myoblast differentiation

4 (18)

5.72E − 03

 Transcription factor binding

12 (325)

5.72E − 03

 Flavone metabolic process

3 (5)

5.72E − 03

 Neuron projection

12 (336)

6.23E − 03

 GABA-ergic synapse

6 (70)

6.23E − 03

 Flavonoid glucuronidation

3 (6)

6.23E − 03

 Brain morphogenesis

4 (21)

6.60E − 03

 Coumarin metabolic process

3 (7)

7.40E − 03

 Glucuronosyltransferase activity

4 (23)

7.40E − 03

 Neuron projection development

7 (116)

7.92E − 03

 Dendrite

13 (420)

7.92E − 03

 Xenobiotic glucuronidation

3 (8)

8.26E − 03

 Positive regulation of catalytic activity

6 (82)

8.82E − 03

 Gamma-aminobutyric acid signaling pathway

4 (27)

1.01E − 02

  1. 342 genes with promoter (10 kb upstream) or intron regions overlapping with positively selected windows (p value < 0.0005) are included in the enrichment analysis (excluding 639 genes that also overlap with exons). Only the top terms in the enrichment results are shown in the table, and the full list of terms is shown in Additional file 2: Tables S5-S8