Table 4.
The list of significant protein families. Significant protein families 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 Pfams | Permutation P-value |
|---|---|---|
| Dup | Cell morphogenesis central region | 0.001998 |
| Cell morphogenesis C-terminal | 0.001998 | |
| Cell morphogenesis N-terminal | 0.001998 | |
| RAVE protein 1 C terminal | 0.00999 | |
| Zinc-binding domain | 0.00999 | |
| Total CNV | Poly (ADP-ribose) glycohydrolase (PARG) | 0.001 |
| Adenylate and Guanylate cyclase catalytic domain | 0.001 | |
| Thrombospondin type 1 domain | 0.000999 | |
| ADAM-TS Spacer 1 | 0.000999 | |
| Cell morphogenesis central region | 0.001998 | |
| Cell morphogenesis C-terminal | 0.001998 | |
| Cell morphogenesis N-terminal | 0.001998 | |
| Reprolysin (M12B) family zinc metalloprotease | 0.008991 | |
| Zinc binding domain | 0.00999 | |