Table 6. Properties and potential functional effects of UTR mutations.
| Annotationa | Novel? | OR (95% CI)b | NT conservationc | Predicted motif | Predicted target location | Score | P | Interpretation |
| ATF5 | ||||||||
| r.860G>A | Y | 0.23 (0.05–1.08) | 0 | hsa-miR-193b targetd | chr:1955128171–55128193 | 15.71 | 0.002 | Potential miR target disrupted |
| r.871G>A | 1.10 (0.91–1.32) | − | hsa-miR-193b targetd | chr:1955128171–55128193 | 15.71 | 0.002 | Potential miR target disrupted | |
| Disc1 | ||||||||
| r.-7G>A | 1.03 (0.26–4.13) | 0 | No obvious functional effect | |||||
| r.2105A>G | 0.95 (0.79–1.14) | + | hsa-miR-633 target | chr:1230069003–230069025 | 16.40 | 0.035 | Potential miR target disrupted | |
| hsa-miR-30d* targetd | chr:1230069012–230069032 | 16.60 | 0.047 | |||||
| NDE1 | ||||||||
| r.1041A>C | 0.99 (0.82–1.17) | − | No obvious functional effect | |||||
| PAFAH1B1 | ||||||||
| r.1250C>T | + | No obvious functional effect (though genomically conserved) | ||||||
| YWHAE | ||||||||
| r.-41G>A | Y | 0.97 (0.44–2.14) | + | No obvious functional effect (though genomically conserved) | ||||
| r.-54C>G | Y | 1.28 (0.76–2.14) | + | No obvious functional effect (though genomically conserved) | ||||
| ZNF365 | ||||||||
| r.1248T>C | 1.05 (0.43–2.52) | − | No obvious functional effect |
a
Rare mutations (MAF<1%) are underlined.
b
OR>1.5 or <0.67 are shown in bold.
c
NT conservation assessed by the GERP score: -, divergent (score <−1); +, conserved (score >1); 0, intermediate (−1< score <1).