Table 3.
Distribution of functional annotations between sceSNVs and pSNVs (chi-square comparisons).
| Function | t0 | t12 | t48 | t96 | ||||
|---|---|---|---|---|---|---|---|---|
| sceSNVs | pSNVs | sceSNVs | pSNVs | sceSNVs | pSNVs | sceSNVs | pSNVs | |
| 3-prime-UTR | 8075 (60%) |
6062 (15%) |
5785 (61%) |
6340 (18%) |
4109 (57%) |
5618 (17%) |
6562 (61%) |
5272 (19%) |
| chi-square p-value |
10,883 p < 10−7 |
6981 p < 10−7 |
5092 p < 10−7 |
6403 p < 10−7 |
||||
| missense | 2010 (15%) |
1129 (3%) |
1562 (17%) |
1513 (4%) |
1323 (18%) |
1388 (4%) |
1744 (16%) |
915 (3%) |
| chi-square p-value |
2808 p < 10−7 |
1726 p < 10−7 |
1854 p < 10−7 |
2008 p < 10−7 |
||||
| intron | 1609 (12%) |
24,634 (60%) |
870 (9%) |
19,247 (55%) |
667 (9%) |
17,559 (54%) |
1045 (10%) |
14,351 (52%) |
| chi-square p-value |
9236 p < 10−7 |
6261 p < 10−7 |
4749 p < 10−7 |
5694 p < 10−7 |
||||
| synonymous | 897 (7%) |
1365 (3%) |
758 (8%) |
1844 (5%) |
580 (8%) |
1756 (5%) |
793 (7%) |
1213 (4%) |
| chi-square p-value |
287 p < 10−7 |
102 p < 10−7 |
76 p < 10−7 |
140 p < 10−7 |
||||
| intergenic | 276 (2%) |
6484 (16%) |
182 (2%) |
4680 (13%) |
161 (2%) |
4475 (14%) |
236 (2%) |
4941 (18%) |
| chi-square p-value |
1751 p < 10−7 |
997 p < 10−7 |
755 p < 10−7 |
1624 p < 10−7 |
||||
| non-coding exon |
250 (1.9%) |
414 (1%) |
142 (1.5%) |
357 (1%) |
102 (1.4%) |
331 (1%) |
200 (1.9%) |
421 (1.5%) |
| chi-square p-value |
60 p < 10−7 |
15 p = 0.00007 |
9 p = 0.002 |
6 p = 0.02 |
||||
| 5-prime-UTR | 152 (1.1%) |
816 (2%) |
78 (0.8%) |
1027 (2.9%) |
118 (1.6%) |
1098 (3.4%) |
80 (0.7%) |
622 (2.2%) |
| chi-square p-value |
41 p < 10−7 |
135 p < 10−7 |
58 p < 10−7 |
96 p < 10−7 |
||||
| splice | 16 (0.12%) |
105 (0.26%) |
15 (0.16%) |
120 (0.34%) |
9 (0.13%) |
103 (0.32%) |
18 (0.17%) |
78 (0.28%) |
| chi-square p-value |
8 p = 0.005 |
8 p = 0.006 |
7 p = 0.008 |
4 p = 0.04 |
||||
| stop | 100 (0.75%) |
6 (0.01%) |
78 (0.82%) |
6 (0.02%) |
62 (0.86%) |
2 (0.01%) |
116 (%1.07) |
5 (0.02%) |
| chi-square p-value |
275 p < 10−7 |
253 p < 10−7 |
264 p < 10−7 |
275 p < 10−7 |
||||