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. 2021 Jan 12;140(5):827–848. doi: 10.1007/s00439-020-02248-x

Table 3.

Enrichment analysis of genes differentially spliced in PE

Gene Set Description Expect Ratio p value FDR
Gene ontology biological processes
 GO: 0,016,192 Vesicle-mediated transport 70.148 1.6394 4.34E–08 0.000199
 GO: 0,030,198 Extracellular matrix organization 12.534 2.7924 4.37E–08 0.000199
 GO: 0,043,062 Extracellular structure organization 14.449 2.4916 4.80E–07 0.001455
 GO: 0,006,887 Exocytosis 32.293 1.889 1.25E–06 0.002845
 GO: 0,072,359 Circulatory system development 37.061 1.8078 1.7E–06 0.003095
 GO: 0,031,102 Neuron projection regeneration 1.8783 5.3239 1.41E–05 0.021369
 GO: 0,031,103 Axon regeneration 1.5532 5.7944 1.85E–05 0.024045
 GO: 0,048,678 Response to axon injury 2.4201 4.5452 2.55E–05 0.028951
 GO:0,035,295 Tube development 35.832 1.7024 3.19E–05 0.030548
 GO: 0,045,055 Regulated exocytosis 28.283 1.8032 3.38E–05 0.030548
KEGG pathways
 hsa04510 Focal adhesion 7.8332 2.6809 3.33E–05 0.010845
 hsa04512 ECM-receptor interaction 3.2277 3.408 0.000337 0.05495
 hsa04960 Aldosterone-regulated sodium reabsorption 1.4564 4.8063 0.000507 0.055129
Reactome pathways
 R-HSA-1474244 Extracellular matrix organization 11.893 2.8589 2.91E–08 5.03E–05
 R-HSA-216083 Integrin cell surface interactions 3.3584 4.7641 1.70E–07 0.000147
 R-HSA-114608 Platelet degranulation 5.0969 2.9429 0.000168 0.078328
Disease_GLAD4U
 PA443275 Adhesion 22.33 2.4183 2.04E–09 5.55E–06
 PA443553 Brain diseases 16.179 2.2251 7.22E–06 0.008322
 PA166048714 Pregnancy 11.194 2.5013 9.18E–06 0.008322
 PA443657 Central nervous system diseases 16.674 2.159 1.39E–05 0.009476
 PA444447 Carcinoma, hepatocellular 11.077 2.4374 2.1E–05 0.011403
 PA443853 Dementia 8.1915 2.6857 2.83E–05 0.012844
 PA445403 Pregnancy complications 8.4538 2.6024 4.57E–05 0.016622
 PA166123006 interstitial fibrosis 2.128 4.6992 4.89E–05 0.016622
 PA443812 Cri-du-chat syndrome 0.46642 10.72 6.92E–05 0.020562
 PA445080 Neovascularization, pathologic 6.3841 2.8195 8E–05 0.020562
Disease_OMIM
 146,110 Hypogonadotropic hypogonadism 7 with or without anosmia 0.11153 35.866 3.14E–06 0.000207
 611,162 Malaria, susceptibility to malaria, resistance to, included 0.13542 29.537 7.35E–06 0.000242
 152,700 Systemic lupus erythematosus 0.063729 31.383 0.001671 0.036762
 104,300 Alzheimer disease 0.087628 22.824 0.003234 0.053355