# GREAT version 4.0.4 Species assembly: hg38 Association rule: Basal+extension: 5000 bp upstream, 1000 bp downstream, 1000000 bp max extension, curated regulatory domains included # Ontology Term Name Binom Rank Binom Raw P-Value Binom FDR Q-Val Binom Fold Enrichment Binom Observed Region Hits Binom Region Set Coverage Hyper Rank Hyper FDR Q-Val Hyper Fold Enrichment Hyper Observed Gene Hits Hyper Total Genes Hyper Gene Set Coverage GO Biological Process nuclear-transcribed mRNA catabolic process, nonsense-mediated decay 150 5.350753e-32 4.694037248466666e-30 2.405337 233 0.01308254 599 0.0013374392399499167 1.337744 83 118 0.008406766 GO Biological Process adherens junction assembly 159 2.304984e-30 1.907627953207547e-28 2.711586 177 0.009938237 1097 0.04404941062989973 1.454359 26 34 0.002633445 GO Biological Process SRP-dependent cotranslational protein targeting to membrane 230 3.193378e-23 1.8270287435652174e-21 2.333521 176 0.009882089 715 0.00558586483020979 1.343701 65 92 0.006583612 GO Biological Process lymph vessel development 245 3.914622e-22 2.1025514652244898e-20 2.598177 136 0.007636159 655 0.0030026186109923664 1.728958 20 22 0.002025727 GO Biological Process cotranslational protein targeting to membrane 259 1.920094e-21 9.755411948262549e-20 2.222723 179 0.01005053 856 0.016258205835280374 1.300247 67 98 0.006786185 GO Biological Process protein targeting to ER 263 2.97749e-21 1.4897639129277565e-19 2.180406 185 0.01038742 838 0.014528655614200477 1.299286 69 101 0.006988757 GO Biological Process organelle transport along microtubule 275 8.598402e-21 4.1144135242909094e-19 2.086892 200 0.01122965 624 0.001900257448974359 1.440798 50 66 0.005064317 GO Biological Process cytoplasmic microtubule organization 348 5.364548e-18 2.0285082509195402e-16 2.429568 123 0.006906232 787 0.011471568091740788 1.484373 32 41 0.003241163 GO Biological Process regulation of pri-miRNA transcription from RNA polymerase II promoter 365 5.752436e-17 2.073871378739726e-15 2.16415 147 0.00825379 791 0.011850873957901392 1.573948 24 29 0.002430872 GO Biological Process regulation of Rac protein signal transduction 422 2.738714e-15 8.539985195734596e-14 2.770438 81 0.004548007 945 0.023351223382010584 1.766007 13 14 0.001316722 GO Biological Process gene silencing by miRNA 426 3.474094e-15 1.0731362193896714e-13 2.209524 124 0.006962381 780 0.010952549491538462 1.469614 34 44 0.003443735 GO Biological Process thyroid gland development 444 1.005104e-14 2.9788656612612614e-13 2.5464 90 0.005053341 950 0.024063960261052633 1.584878 20 24 0.002025727 GO Biological Process establishment of epithelial cell polarity 453 1.421379e-14 4.1289020443708605e-13 2.027182 145 0.008141494 869 0.017167967334867664 1.562237 23 28 0.002329586 GO Biological Process posttranscriptional gene silencing by RNA 508 1.293807e-13 3.351418565551181e-12 2.028694 134 0.007523863 1041 0.035843283094140255 1.379776 37 51 0.003747594 GO Biological Process posttranscriptional gene silencing 512 1.538176e-13 3.953292575e-12 2.017658 135 0.007580011 968 0.02730234213842975 1.389816 38 52 0.003848881 GO Biological Process response to arsenic-containing substance 543 4.04936e-13 9.813172788213629e-12 2.391867 89 0.004997193 1025 0.035292168400975606 1.508367 23 29 0.002329586 GO Biological Process metanephric tubule morphogenesis 559 1.004604e-12 2.3648629760286226e-11 2.628757 72 0.004042673 933 0.022731671809217577 1.901854 10 10 0.001012863 GO Biological Process axonal transport 745 1.762572e-10 3.1132463017449667e-9 2.012668 101 0.005670971 919 0.022064392626768223 1.462964 30 39 0.00303859 GO Biological Process positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay 748 1.917595e-10 3.373480294786096e-9 2.257125 77 0.004323414 563 0.0007931882918472469 1.901854 16 16 0.001620581 GO Biological Process positive regulation of mitochondrial membrane permeability 800 5.082135e-10 8.359476808125e-9 2.307183 70 0.003930376 747 0.007931702633467203 1.711668 18 20 0.001823154 GO Cellular Component transcriptional repressor complex 43 5.233205e-32 2.1030181953488372e-30 2.04481 333 0.01869736 63 0.00027683766857142857 1.443576 63 83 0.006381039 GO Cellular Component cleavage furrow 57 1.136548e-21 3.4455349894736836e-20 2.282625 171 0.009601348 97 0.004610918597938145 1.462964 40 52 0.004051453 GO Cellular Component cell division site part 75 1.476728e-17 3.402381312e-16 2.015818 181 0.01016283 108 0.0090252544 1.403007 45 61 0.004557885 GO Cellular Component axon cytoplasm 146 2.415881e-10 2.859344087671233e-9 2.000442 101 0.005670971 140 0.03788556068571428 1.42639 30 40 0.00303859 GO Molecular Function armadillo repeat domain binding 97 1.08057e-14 4.703264474226803e-13 3.274816 60 0.003368894 140 0.0486049306 1.901854 10 10 0.001012863 Human Phenotype Intestinal malrotation 66 1.023635e-16 1.0349570234848486e-14 2.041924 166 0.009320606 83 0.00221220401686747 1.609261 33 39 0.003342449 Human Phenotype Ectopic kidney 88 1.439028e-15 1.0912083913636363e-13 2.21351 127 0.007130825 221 0.032474018624434386 1.597557 21 25 0.002127013 Human Phenotype Muscle fiber atrophy 1250 0.001182229 0.0063112112936 2.109043 22 0.001235261 212 0.026661810970283018 1.901854 11 11 0.00111415 Mouse Phenotype Single KO enlarged liver sinusoidal spaces 66 1.845668e-31 2.5607245266666664e-29 2.821238 172 0.009657496 407 0.001621467337960688 1.593445 31 37 0.003139876 Mouse Phenotype Single KO abnormal liver sinusoid morphology 79 1.048434e-28 1.2152544478481013e-26 2.307142 226 0.0126895 725 0.019479010376551722 1.35435 47 66 0.004760458 Mouse Phenotype Single KO absent corpus callosum 107 1.198201e-24 1.0254136969158878e-22 2.129842 229 0.01285794 610 0.011017858519344262 1.545256 26 32 0.002633445 Mouse Phenotype Single KO abnormal metanephros morphology 192 4.495644e-18 2.144094380625e-16 2.292345 139 0.007804604 387 0.0011666119744444443 1.806761 19 20 0.00192444 Mouse Phenotype Single KO abnormal Mullerian duct morphology 226 2.087286e-16 8.457202611504424e-15 2.14848 144 0.008085345 803 0.028110062810709838 1.467144 27 35 0.002734731 Mouse Phenotype Single KO abnormal fourth pharyngeal arch artery morphology 262 4.740169e-15 1.6567071577480918e-13 2.191652 125 0.007018529 894 0.03939285064988814 1.664122 14 16 0.001418009 Mouse Phenotype Single KO abnormal fourth pharyngeal arch morphology 284 2.9472e-14 9.502644507042253e-13 2.047393 138 0.007748456 729 0.01999738067489712 1.63016 18 21 0.001823154 Mouse Phenotype Single KO iris synechia 308 7.282171e-14 2.1650272677597404e-12 2.112334 124 0.006962381 815 0.029472506723926383 1.616576 17 20 0.001721868 Mouse Phenotype Single KO abnormal thyroid cartilage morphology 339 2.437842e-13 6.585049909734514e-12 2.117498 118 0.006625491 471 0.003143590323354565 1.796195 17 18 0.001721868 Mouse Phenotype Single KO abnormal thymus development 392 2.790724e-12 6.51904583367347e-11 2.569694 72 0.004042673 577 0.00832171813882149 1.782988 15 16 0.001519295 Mouse Phenotype Single KO anterior iris synechia 432 1.29206e-11 2.738748476851852e-10 2.10545 102 0.00572712 894 0.03939285064988814 1.664122 14 16 0.001418009 Mouse Phenotype Single KO abnormal thymus involution 445 1.856629e-11 3.82048354e-10 2.62403 64 0.003593487 837 0.03259953265471924 1.755557 12 13 0.001215436 Mouse Phenotype Single KO absent teeth 455 2.569086e-11 5.170356154285715e-10 2.37694 76 0.004267266 837 0.03259953265471924 1.755557 12 13 0.001215436 Mouse Phenotype Single KO thin interventricular septum 474 4.222884e-11 8.158006073417722e-10 2.3983 73 0.004098821 925 0.04247815486378378 1.601561 16 19 0.001620581 Mouse Phenotype Single KO small superior cervical ganglion 489 6.161637e-11 1.1538263805521473e-9 2.177191 88 0.004941044 610 0.011017858519344262 1.545256 26 32 0.002633445 Mouse Phenotype Single KO testis degeneration 596 1.515975e-9 2.329158234060403e-8 2.807562 46 0.002582819 499 0.004292621763126252 1.901854 13 13 0.001316722 Mouse Phenotype Single KO reduced sympathetic cervical ganglion size 665 6.430121e-9 8.854228270225564e-8 2.866021 41 0.002302077 837 0.03259953265471924 1.755557 12 13 0.001215436 Mouse Phenotype Single KO uveal coloboma 699 1.12011e-8 1.4673601244635191e-7 2.234884 63 0.003537339 633 0.01225332309842022 1.901854 11 11 0.00111415 Mouse Phenotype Single KO decreased anterior commissure size 754 3.040088e-8 3.692053821750663e-7 2.157433 64 0.003593487 846 0.033192349884160754 1.901854 9 9 0.000911577 Mouse Phenotype Single KO abnormal hindlimb bud morphology 810 7.334227e-8 8.291298350493827e-7 2.051396 68 0.00381808 738 0.0199980194498645 1.901854 10 10 0.001012863 Mouse Phenotype enlarged liver sinusoidal spaces 86 7.358369e-36 8.180623954534883e-34 2.782075 202 0.01134194 487 0.00020281904396303902 1.623534 35 41 0.003545022 Mouse Phenotype abnormal liver sinusoid morphology 131 4.886059e-29 3.566077106793893e-27 2.115426 277 0.01555306 712 0.0022293996033707865 1.389816 57 78 0.005773321 Mouse Phenotype abnormal cell adhesion 142 1.135768e-27 7.64723792112676e-26 2.007569 299 0.01678832 682 0.0018249888197947213 1.401366 56 76 0.005672035 Mouse Phenotype decreased molar number 232 4.012711e-20 1.6536866323706896e-18 3.221005 87 0.004884896 1169 0.025080948456800683 1.901854 9 9 0.000911577 Mouse Phenotype abnormal thyroid cartilage morphology 253 5.736683e-19 2.1679219827272727e-17 2.165387 166 0.009320606 511 0.0002946342831898239 1.755557 24 26 0.002430872 Mouse Phenotype abnormal third pharyngeal arch artery morphology 258 9.300312e-19 3.446522598139535e-17 2.426986 129 0.007243122 1416 0.04730140673516949 1.539596 17 21 0.001721868 Mouse Phenotype increased gamma-delta T cell number 265 2.272265e-18 8.198160628301887e-17 2.00444 193 0.01083661 1284 0.03347534700233645 1.375809 34 47 0.003443735 Mouse Phenotype abnormal metanephros morphology 283 1.267986e-17 4.283821253003533e-16 2.15986 154 0.008646828 475 0.00017919735449052631 1.760975 25 27 0.002532158 Mouse Phenotype abnormal hair follicle orientation 293 2.261775e-17 7.380488319112628e-16 2.121412 158 0.008871421 1356 0.04177698692477876 1.458088 23 30 0.002329586 Mouse Phenotype abnormal rib development 298 3.413151e-17 1.0950717017114094e-15 2.368443 123 0.006906232 1322 0.03926418473600605 1.440798 25 33 0.002532158 Mouse Phenotype abnormal pharyngeal pouch morphology 376 4.197435e-15 1.0673318094414894e-13 2.35165 108 0.006064009 849 0.0050706048395759715 1.711668 18 20 0.001823154 Mouse Phenotype increased body temperature 420 3.838734e-14 8.738603755714285e-13 2.132726 124 0.006962381 1119 0.021061891868632707 1.467144 27 35 0.002734731 Mouse Phenotype absent teeth 517 2.739165e-12 5.0656008829787225e-11 2.147139 104 0.005839416 1008 0.012626163645833334 1.690536 16 18 0.001620581 Mouse Phenotype abnormal thyroid gland development 562 1.527834e-11 2.599220796085409e-10 2.509758 70 0.003930376 1383 0.04472805865509761 1.648273 13 15 0.001316722 Mouse Phenotype abnormal ultimobranchial body morphology 576 2.605274e-11 4.3244834572916665e-10 2.946702 52 0.002919708 1337 0.04172257355272999 1.901854 8 8 0.0008102907 Mouse Phenotype abnormal thymus corticomedullary boundary morphology 577 2.638276e-11 4.3716736284228774e-10 2.095136 100 0.005614823 776 0.003403135686726804 1.595103 26 31 0.002633445 Mouse Phenotype absent second pharyngeal arch 663 2.687925e-10 3.876206776018099e-9 2.121532 87 0.004884896 1104 0.019657788394021738 1.678106 15 17 0.001519295 Mouse Phenotype absent egg cylinders 692 4.696798e-10 6.489318739595376e-9 2.224183 76 0.004267266 1104 0.019657788394021738 1.678106 15 17 0.001519295 Mouse Phenotype abnormal pulmonary alveolar sac morphology 798 4.438216e-9 5.317516688721805e-8 2.259578 65 0.003649635 672 0.0017488619816964286 1.901854 14 14 0.001418009 Mouse Phenotype reduced sympathetic cervical ganglion size 818 6.430121e-9 7.515695217726162e-8 2.866021 41 0.002302077 1156 0.024645015861591693 1.755557 12 13 0.001215436