Table 5.
The list of significant GOs. Significant GOs associated with cholesterol were selected based on CNV burden data set (P<0.01). Continuous cholesterol phenotype was dichotomized at the 75th percentile in order to perform the proposed functional annotation pipeline comparing CNVs in the top quartile (‘high’) with those in the bottom 3 quartiles (‘low’).
| CNV Type | Significant GOs | Permutation P-value |
|---|---|---|
| Dup | Nucleoside triphosphatase activity | 0.001 |
| GTPase activity | 0.001 | |
| Pyrophosphatase activity | 0.001 | |
| Cellular defense response | 0.000999 | |
| Hydrolase activity, acting on acid anhydrides | 0.000999 | |
| Caspase regulator activity | 0.005994 | |
| Histone acetyltransferase activity | 0.006993 | |
| Response to virus | 0.007992 | |
| Microtubule organizing center organization and biogenesis | 0.008991 | |
| Centrosome organization and biogenesis | 0.008991 | |
| Nuclear envelope | 0.00999 | |
| Total CNV | Sensory organ development | 0.001 |
| Nicotinic acetylcholine-gated receptor-channel complex | 0.000999 | |
| Nicotinic acetylcholine-activated cation-selective channel activity | 0.000999 | |
| Double stranded DNA binding | 0.001998 | |
| Cyclase activity | 0.002997 | |
| Phosphorus-oxygen lyase activity | 0.002997 | |
| Secondary metabolic process | 0.005994 | |
| Learning and/or memory | 0.006993 | |
| Serotonin receptor activity | 0.007992 | |
| Microvillus | 0.008991 | |
| Amino acid transmembrane transporter activity | 0.008991 | |