Table 2.
Differentially expressed genes with no expression in POLR3B mutant patients or controls
| Gene_id | Gene | Locus | Sample_1 | Sample_2 | Status | Value_1 | Value_2 | p_value |
|---|---|---|---|---|---|---|---|---|
| Genes with no expression in patients | ||||||||
| ENSG00000199347 | RNU5E−1 | 1:11908151–11908271 | Affected | Unaffected | OK | 0 | 63.402 | 0.0099 |
| ENSG00000200156 | RNU5B-1 | 15:65304676–65304792 | Affected | Unaffected | OK | 0 | 77.1612 | 0.0121 |
| ENSG00000207217 | SNORA42 | 7:6009244–6059230 | Affected | Unaffected | OK | 0 | 33.804 | 0.0467 |
| ENSG00000207392 | SNORA20 | 6:159669056–159789749 | Affected | Unaffected | OK | 0 | 47.5036 | 0.04185 |
| ENSG00000207501 | RNVU1-14 | 1:145281115–145281462 | Affected | Unaffected | OK | 0 | 7.27258 | 0.0421 |
| ENSG00000221676 | RNU6ATAC | 9:134164438–134164564 | Affected | Unaffected | OK | 0 | 51.8622 | 0.0016 |
| ENSG00000222389 | RNU2-28P | 3:81489698–81762161 | Affected | Unaffected | OK | 0 | 4.97713 | 0.0419 |
| ENSG00000225364 | ATP6V0E1P1 | 5:132875378–132963634 | Affected | Unaffected | OK | 0 | 3.87561 | 0.03025 |
| ENSG00000238151 | MLLT10P1 | 20:30403122–30403384 | Affected | Unaffected | OK | 0 | 1.75103 | 0.0006 |
| ENSG00000239576 | COX6CP14 | 3:49724293–49786542 | Affected | Unaffected | OK | 0 | 5.87158 | 0.0393 |
| ENSG00000240098 | RN7SL351P | 11:126202093–126278131 | Affected | Unaffected | OK | 0 | 2.05111 | 0.02335 |
| ENSG00000240750 | RN7SL559P | 1:27,970343–28088696 | Affected | Unaffected | OK | 0 | 2.23239 | 0.0274 |
| ENSG00000243243 | AC073130.3 | 7:116209233–116508541 | Affected | Unaffected | OK | 0 | 1.40121 | 0.0043 |
| ENSG00000243313 | RN7SL285P | 6:37819498–38154624 | Affected | Unaffected | OK | 0 | 3.5045 | 0.02865 |
| ENSG00000244398 | RP11-466H18.1 | 11:16778294–17053024 | Affected | Unaffected | OK | 0 | 3.40283 | 0.02655 |
| ENSG00000244451 | RPL34P21 | 11:130069836–130144811 | Affected | Unaffected | OK | 0 | 2.39474 | 0.0406 |
| ENSG00000256148 | RP11-809N8.5 | 11:73400486–73598189 | Affected | Unaffected | OK | 0 | 10.9554 | 0.0308 |
| ENSG00000259235 | RP11-605F22.2 | 15:48189036–48304078 | Affected | Unaffected | OK | 0 | 2.04009 | 0.0104 |
| ENSG00000260035 | CTD-2651B20.6 | 15:45092649–45201175 | Affected | Unaffected | OK | 0 | 2.9694 | 0.0221 |
| ENSG00000267590 | NDUFA3P1 | 19:44207546–44305046 | Affected | Unaffected | OK | 0 | 4.16525 | 0.0295 |
| ENSG00000269987 | RP3-430N8.11 | 22:30970676–30979395 | Affected | Unaffected | OK | 0 | 1.75279 | 0.0395 |
| ENSG00000270103 | RNU11 | 1:28648599–28648733 | Affected | Unaffected | OK | 0 | 25.5714 | 0.04965 |
| ENSG00000275418 | RP11-126O1.6 | 18:58659857–58660524 | Affected | Unaffected | OK | 0 | 2.3237 | 0.0001 |
| ENSG00000276345 | AC004556.1 | KI270721.1:2584–11802 | Affected | Unaffected | OK | 0 | 1.93881 | 5.00E-05 |
| ENSG00000277610 | RNVU1-4 | 1:120913150–121052167 | Affected | Unaffected | OK | 0 | 8.82388 | 0.0395 |
| ENSG00000278371 | AL442127.1 | 13:106541672–106568164 | Affected | Unaffected | OK | 0 | 6.72073 | 0.0372 |
| ENSG00000283125 | RP11-299P2.2 | 18:63123345–63320128 | Affected | Unaffected | OK | 0 | 1.7566 | 0.03935 |
| Genes with no expression in controls | ||||||||
| ENSG00000011052 | NME1-NME2 | 17:51153535–51171747 | Affected | Unaffected | OK | 1.93848 | 0 | 0.00055 |
| ENSG00000212579 | SNORA40 | 6:35573584–35728583 | Affected | Unaffected | OK | 138.82 | 0 | 0.03135 |
| ENSG00000229646 | RP11-330A16.1 | 6:14597513–14599690 | Affected | Unaffected | OK | 20.8711 | 0 | 0.03115 |
| ENSG00000229979 | U82670.9 | X:153052149–153052413 | Affected | Unaffected | OK | 1.64758 | 0 | 0.0001 |
| ENSG00000233138 | RP1-67K17.3 | 6:142748442–142945201 | Affected | Unaffected | OK | 2.16869 | 0 | 0.04335 |
| ENSG00000248840 | RP11-357G3.2 | 4:3293027–3439913 | Affected | Unaffected | OK | 1.88138 | 0 | 0.00625 |
| ENSG00000280964 | AL512384.1 | 6:25732496–25732827 | Affected | Unaffected | OK | 20.6383 | 0 | 0.0247 |