TABLE 3.
Enriched gene ontology terms
| ND-CTRD cohort |
|||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ND-CTRD cohort 1 |
ND-CTRD cohort 2 |
DS-CTRD cohort |
Total | ||||||||||||
| Term | Description | GO type | CNV type | Case count | Control count | p valuea Cohort1 | Case count | Control count | p valuea Cohort2 | P_TOTAL ND-CTRD | Case count | Control count | p valuea DS-CTRD | P_TOTAL CTRD | FDRb |
| GO:0006629 | Lipid metabolic process | Biological process | Dup | 16 | 73 | 9.363E-02 | 25 | 51 | 1.459E-07 | 1.287E-06 | 40 | 10 | 1.546E-02 | 1.566E-10 | 2.795E-07 |
| GO:0044255 | Cellular lipid metabolic process | Biological process | Dup | 15 | 63 | 5.021E-02 | 23 | 45 | 2.695E-07 | 9.745E-07 | 36 | 9 | 2.519E-02 | 2.641E-10 | 3.536E-07 |
| GO:0032787 | Monocarboxylic acid metabolic process | Biological process | Dup | 11 | 43 | 5.716E-02 | 16 | 24 | 1.541E-06 | 3.989E-06 | 27 | 5 | 1.448E-02 | 7.717E-10 | 5.903E-07 |
| GO:0044765 | Single-organism transport | Biological process | Dup | 34 | 169 | 3.278E-02 | 42 | 115 | 6.730E-09 | 7.676E-08 | 61 | 20 | 2.931E-02 | 8.612E-10 | 6.148E-07 |
| GO:0006082 | Organic acid metabolic process | Biological process | Dup | 19 | 76 | 2.244E-02 | 24 | 47 | 1.469E-07 | 1.727E-07 | 34 | 8 | 2.085E-02 | 1.014E-09 | 6.389E-07 |
| GO:0043436 | Oxoacid metabolic process | Biological process | Dup | 18 | 75 | 3.282E-02 | 24 | 47 | 1.469E-07 | 3.237E-07 | 34 | 8 | 2.085E-02 | 1.552E-09 | 8.480E-07 |
| GO:0019752 | Carboxylic acid metabolic process | Biological process | Dup | 16 | 66 | 3.728E-02 | 19 | 39 | 5.455E-06 | 5.824E-06 | 32 | 7 | 1.683E-02 | 1.140E-08 | 3.928E-06 |
| GO:0051649 | Establishment of localization in cell | Biological process | Dup | 22 | 113 | 1.040E-01 | 31 | 64 | 4.895E-09 | 4.232E-07 | 41 | 12 | 3.973E-02 | 1.174E-08 | 3.928E-06 |
| GO:0006631 | Fatty acid metabolic process | Biological process | Dup | 6 | 23 | 1.458E-01 | 11 | 16 | 5.924E-05 | 1.165E-04 | 21 | 4 | 3.592E-02 | 1.253E-08 | 4.066E-06 |
| GO:0071702 | Organic substance transport | Biological process | Dup | 30 | 126 | 7.167E-03 | 22 | 77 | 8.196E-04 | 3.031E-05 | 47 | 13 | 1.796E-02 | 1.448E-07 | 2.584E-05 |
| GO:0016477 | Cell migration | Biological process | Dup | 8 | 50 | 6.801E-01 | 17 | 37 | 3.159E-05 | 8.780E-04 | 30 | 6 | 1.315E-02 | 2.421E-0 | 4.181E-05 |
| GO:0048870 | Cell motility | Biological process | Dup | 10 | 56 | 4.389E-01 | 17 | 38 | 4.129E-05 | 7.291E-04 | 31 | 7 | 2.412E-02 | 3.464E-07 | 5.299E-05 |
| GO:0045859 | Regulation of protein kinase activity | Biological process | Dup | 11 | 46 | 9.500E-02 | 12 | 24 | 2.648E-04 | 3.944E-04 | 23 | 5 | 4.639E-02 | 1.107E-06 | 1.108E-04 |
| GO:0015980 | Energy derivation by oxidation of organic compounds | Biological process | Dup | 4 | 12 | 1.120E-01 | 6 | 12 | 9.846E-03 | 3.844E-03 | 15 | 2 | 4.086E-02 | 1.432E-06 | 1.381E-04 |
| GO:0051259 | Protein oligomerization | Biological process | Dup | 7 | 34 | 3.254E-01 | 10 | 13 | 6.704E-05 | 1.050E-03 | 18 | 3 | 3.907E-02 | 2.521E-06 | 1.987E-04 |
| GO:0044429 | Mitochondrial part | Cellular component | Dup | 12 | 59 | 1.922E-01 | 13 | 28 | 2.585E-04 | 8.780E-04 | 26 | 6 | 4.048E-02 | 4.763E-06 | 3.249E-04 |
| GO:0033559 | Unsaturated fatty acid metabolic process | Biological process | Dup | 2 | 11 | 6.608E-01 | 7 | 5 | 8.700E-05 | 1.261E-03 | 9 | 0 | 3.060E-02 | 1.105E-05 | 6.612E-04 |
| GO:0071900 | Regulation of protein serine/threonine kinase activity | Biological process | Dup | 5 | 26 | 4.057E-01 | 7 | 13 | 3.916E-03 | 1.326E-02 | 16 | 2 | 2.628E-02 | 3.844E-05 | 1.774E-03 |
| GO:0071705 | Nitrogen compound transport | Biological process | Dup | 11 | 36 | 2.132E-02 | 5 | 21 | 1.968E-01 | 9.101E-03 | 18 | 2 | 1.641E-02 | 8.725E-05 | 3.373E-03 |
| GO:0043405 | Regulation of MAP kinase activity | Biological process | Dup | 4 | 22 | 5.402E-01 | 6 | 7 | 1.462E-03 | 1.097E-02 | 12 | 1 | 3.940E-02 | 1.209E-04 | 4.455E-03 |
| GO:0004672 | Protein kinase activity | Molecular function | Dup | 10 | 55 | 3.365E-01 | 17 | 42 | 1.116E-04 | 9.008E-04 | 21 | 4 | 3.592E-02 | 1.320E-04 | 4.760E-03 |
| GO:0009891 | Positive regulation of biosynthetic process | Biological process | Dup | 16 | 93 | 3.65E-01 | 17 | 62 | 5.12E-03 | 1.40E-02 | 35 | 8 | 1.47E-02 | 1.64E-04 | 5.69E-03 |
| GO:0016301 | Kinase activity | Molecular function | Dup | 15 | 69 | 8.82E-02 | 17 | 51 | 1.04E-03 | 6.70E-04 | 24 | 5 | 4.71E-02 | 1.65E-04 | 5.72E-03 |
| GO:0050867 | Positive regulation of cell activation | Biological process | Dup | 6 | 22 | 1.34E-01 | 5 | 13 | 3.98E-02 | 1.69E-02 | 13 | 1 | 2.40E-02 | 1.91E-04 | 6.41E-03 |
| GO:0030529 | Ribonucleoprotein complex | Cellular component | Dup | 10 | 43 | 1.30E-01 | 7 | 32 | 1.89E-01 | 4.63E-02 | 22 | 3 | 1.06E-02 | 3.16E-04 | 9.18E-03 |
| GO:0002696 | Positive regulation of leukocyte activation | Biological process | Dup | 5 | 19 | 1.95E-01 | 4 | 13 | 1.08E-01 | 4.69E-02 | 13 | 1 | 2.40E-02 | 3.89E-04 | 1.10E-02 |
| GO:0050865 | Regulation of cell activation | Biological process | Dup | 7 | 35 | 3.33E-01 | 9 | 21 | 3.61E-03 | 8.25E-03 | 15 | 2 | 4.09E-02 | 5.70E-04 | 1.48E-02 |
| GO:0006935 | Chemotaxis | Biological process | Dup | 4 | 23 | 5.53E-01 | 8 | 14 | 1.54E-03 | 1.06E-02 | 9 | 0 | 3.06E-02 | 2.21E-03 | 4.00E-02 |
| GO:0042330 | Taxis | Biological process | Dup | 4 | 23 | 5.53E-01 | 8 | 14 | 1.54E-03 | 1.06E-02 | 9 | 0 | 3.06E-02 | 2.21E-03 | 4.00E-02 |
| GO:0050678 | Regulation of epithelial cell proliferation | Biological process | Del | 12 | 15 | 2.16E-05 | 4 | 12 | 8.99E-02 | 1.07E-05 | 12 | 1 | 3.94E-02 | 1.97E-07 | 9.54E-06 |
| GO:0009968 | Negative regulation of signal transduction | Biological process | Del | 14 | 60 | 6.76E-02 | 7 | 30 | 1.77E-01 | 2.28E-02 | 27 | 5 | 1.45E-02 | 3.78E-05 | 9.34E-04 |
| GO:0023057 | Negative regulation of signaling | Biological process | Del | 14 | 62 | 1.03E-01 | 8 | 30 | 6.14E-02 | 1.64E-02 | 27 | 5 | 1.45E-02 | 4.22E-05 | 1.02E-03 |
| GO:0010648 | Negative regulation of cell communication | Biological process | Del | 14 | 63 | 1.05E-01 | 8 | 30 | 6.14E-02 | 1.69E-02 | 27 | 5 | 1.45E-02 | 4.54E-05 | 1.09E-03 |
| GO:0006691 | Leukotriene metabolic process | Biological process | All | 3 | 9 | 1.62E-01 | 6 | 2 | 3.85E-05 | 1.77E-04 | 10 | 0 | 1.70E-02 | 1.39E-07 | 4.90E-06 |
| GO:0030100 | Regulation of endocytosis | Biological process | All | 8 | 31 | 1.27E-01 | 4 | 16 | 2.66E-01 | 4.04E-02 | 25 | 3 | 4.30E-03 | 6.09E-07 | 1.77E-05 |
| GO:0031253 | Cell projection membrane | Cellular component | All | 11 | 35 | 1.89E-02 | 9 | 37 | 8.86E-02 | 4.45E-03 | 28 | 7 | 4.90E-02 | 9.90E-07 | 2.73E-05 |
| GO:0001952 | Regulation of cell-matrix adhesion | Biological process | All | 5 | 17 | 1.72E-01 | 3 | 7 | 8.80E-02 | 2.55E-02 | 16 | 2 | 2.63E-02 | 3.73E-06 | 9.28E-05 |
| GO:0050679 | Positive regulation of epithelial cell proliferation | Biological process | All | 9 | 21 | 6.18E-03 | 4 | 12 | 8.99E-02 | 1.54E-03 | 12 | 1 | 3.94E-02 | 3.87E-05 | 7.36E-04 |
a
Two sided Fisher Exact test.
b
False Discovery Rate Adjustment following Benjamini-Hochberg procedure.