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Table 2 Differentially expressed genes with no expression in POLR3B mutant patients or controls

From: Intellectual disability associated with craniofacial dysmorphism due to POLR3B mutation and defect in spliceosomal machinery

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