# 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 regulation of gene expression, epigenetic 37 6.007943e-36 2.1367168091081082e-33 2.099693 350 0.03216025 647 0.015206184476506956 1.228327 136 248 0.01622331 GO Biological Process rRNA processing 40 2.446958e-33 8.0498800805e-31 2.157791 304 0.02793347 178 3.7401263855056177e-7 1.404376 158 252 0.01884767 GO Biological Process rRNA metabolic process 44 2.120056e-32 6.340412932727274e-30 2.11773 308 0.02830102 204 0.000001168423732745098 1.383716 160 259 0.01908625 GO Biological Process nuclear-transcribed mRNA catabolic process 50 1.163916e-30 3.0631941287999998e-28 2.214372 263 0.02416613 175 3.1701662716e-7 1.459322 129 198 0.01538829 GO Biological Process nuclear-transcribed mRNA catabolic process, nonsense-mediated decay 51 8.889384e-30 2.2936353736470585e-27 2.787528 165 0.01516126 218 0.000002403711069082569 1.556534 82 118 0.009781701 GO Biological Process mRNA catabolic process 54 2.415102e-29 5.8852457811111114e-27 2.116595 278 0.02554443 153 3.2512689556862744e-8 1.472228 140 213 0.01670047 GO Biological Process SRP-dependent cotranslational protein targeting to membrane 82 6.963337e-23 1.1174457510121952e-20 2.755612 127 0.01166958 318 0.00013291612098427673 1.533838 63 92 0.007515209 GO Biological Process cotranslational protein targeting to membrane 86 1.925537e-21 2.9462955096511625e-19 2.621424 129 0.01185335 329 0.00018508881443161094 1.508498 66 98 0.007873076 GO Biological Process protein targeting to ER 92 4.801903e-20 6.868287127934783e-18 2.507404 130 0.01194524 404 0.000692982906039604 1.463691 66 101 0.007873076 GO Biological Process viral gene expression 95 7.670389e-20 1.0624699879052632e-17 2.310364 151 0.01387485 364 0.0003756514913461538 1.428591 81 127 0.009662412 GO Biological Process protein localization to endoplasmic reticulum 100 8.596169e-19 1.13116987871e-16 2.206482 157 0.01442617 419 0.0009741698776610978 1.408963 78 124 0.009304545 GO Biological Process establishment of protein localization to endoplasmic reticulum 101 1.307415e-18 1.7033934638613862e-16 2.333009 138 0.01268033 366 0.00037614785778688516 1.471928 69 105 0.008230944 GO Biological Process regulation of transcription from RNA polymerase II promoter in response to stress 107 9.069316e-17 1.1153563480747664e-14 2.089168 157 0.01442617 459 0.0020891718637254903 1.407365 71 113 0.008469522 GO Biological Process viral transcription 108 1.020073e-16 1.242883389537037e-14 2.229101 135 0.01240467 459 0.0020891718637254903 1.407365 71 113 0.008469522 GO Biological Process translational initiation 110 1.131844e-16 1.3539941087272727e-14 2.036464 166 0.01525315 454 0.0019692753635022027 1.36273 87 143 0.01037815 GO Biological Process mitochondrial transmembrane transport 122 4.000147e-15 4.314584784672131e-13 2.280531 115 0.01056694 727 0.02715304443741403 1.376318 51 83 0.006083741 GO Biological Process termination of RNA polymerase II transcription 205 2.108024e-11 1.3531457471219513e-9 2.354901 78 0.007167141 598 0.009918620455518395 1.460798 45 69 0.005368007 GO Biological Process snRNA metabolic process 211 3.221182e-11 2.00888786436019e-9 2.131235 95 0.008729211 778 0.03798553390745501 1.354352 52 86 0.00620303 GO Biological Process negative regulation of ubiquitin-protein transferase activity 233 1.942794e-10 1.09722001055794e-8 2.014998 100 0.009188643 773 0.037031043212160414 1.359933 51 84 0.006083741 GO Biological Process negative regulation of cyclin-dependent protein kinase activity 270 1.710313e-9 8.335558802592591e-8 2.475364 57 0.005237526 516 0.004625268640891473 1.809142 21 26 0.00250507 GO Cellular Component ribosomal subunit 29 2.741263e-24 1.6334146427586206e-22 2.197552 209 0.01920426 42 0.000004554497828571429 1.428687 118 185 0.01407611 GO Cellular Component large ribosomal subunit 36 1.545802e-18 7.419849600000001e-17 2.353394 135 0.01240467 57 0.00020243977768421054 1.460798 75 115 0.008946678 GO Cellular Component cytosolic ribosome 46 7.092176e-15 2.664191332173913e-13 2.021133 149 0.01369108 59 0.00026666047891525424 1.459928 73 112 0.0087081 GO Cellular Component BORC complex 49 2.525896e-14 8.907649567346939e-13 12.57857 18 0.001653956 107 0.025441505495327102 2.23989 8 8 0.0009543123 GO Cellular Component cytosolic large ribosomal subunit 57 3.830943e-12 1.1613806147368421e-10 2.339685 85 0.007810346 89 0.005999062651685393 1.5055 41 61 0.004890851 GO Cellular Component spliceosomal snRNP complex 71 6.210041e-10 1.511401527887324e-8 2.294172 70 0.00643205 74 0.001687122758918919 1.553472 43 62 0.005129429 GO Cellular Component small nuclear ribonucleoprotein complex 76 3.857075e-9 8.76977052631579e-8 2.101856 77 0.007075255 65 0.0006520525587692307 1.558185 48 69 0.005725874 GO Cellular Component spliceosomal tri-snRNP complex 104 2.604675e-7 0.000004327767692307692 2.631983 37 0.003399798 118 0.0336139346440678 1.621989 21 29 0.00250507 GO Cellular Component MLL1 complex 106 2.88021e-7 0.000004695285735849056 2.51043 40 0.003675457 118 0.0336139346440678 1.621989 21 29 0.00250507 GO Cellular Component precatalytic spliceosome 138 0.00001381746 0.00017301862956521738 2.438821 30 0.002756593 101 0.018686985504950494 1.679918 21 28 0.00250507 GO Cellular Component Ino80 complex 152 0.00004304557 0.0004893601642105262 3.066254 18 0.001653956 128 0.042652831499999995 1.819911 13 16 0.001550757 GO Cellular Component BLOC complex 178 0.0001594342 0.0015477657168539325 2.152494 29 0.002664706 100 0.018650856959999997 1.752958 18 23 0.002147203 GO Molecular Function structural constituent of ribosome 8 9.090575e-20 4.7975509562500004e-17 2.108327 184 0.0169071 61 0.000060060441672131144 1.424128 103 162 0.01228677 GO Molecular Function cyclin-dependent protein serine/threonine kinase regulator activity 24 4.117438e-10 7.243259681666666e-8 2.553239 58 0.005329413 86 0.0013917214246511628 1.853702 24 29 0.002862937 GO Molecular Function snRNA binding 29 1.880022e-9 2.7370527186206903e-7 2.863343 44 0.004043003 92 0.0032657541719565216 1.70939 29 38 0.003459382 GO Molecular Function cyclin-dependent protein serine/threonine kinase inhibitor activity 46 4.79204e-8 0.00000439825932173913 3.727693 25 0.002297161 120 0.03491973628166667 2.053233 11 12 0.001312179 GO Molecular Function rDNA binding 109 0.00001612295 0.0006245054577981652 2.976168 21 0.001929615 106 0.012492627154716981 2.23989 10 10 0.00119289 Human Phenotype Laryngomalacia 4 4.203492e-14 7.012475529000001e-11 3.744111 48 0.004410549 296 0.044441052804054054 1.919906 12 14 0.001431468 Human Phenotype Steppage gait 9 1.682298e-10 1.247330506e-7 2.522639 62 0.005696959 66 0.00022666098215151512 1.941238 26 30 0.003101515 Human Phenotype Acanthosis nigricans 65 0.000001213498 0.0001245795716 2.337158 41 0.003767344 221 0.027060023498642536 1.866575 15 18 0.001789336 Human Phenotype Melanoma 98 0.00001125765 0.0007665540658163265 4.18744 14 0.00128641 275 0.03822709339272728 2.23989 8 8 0.0009543123 Mouse Phenotype Single KO abnormal cellular replicative senescence 1 8.362225e-28 7.657289432500001e-24 3.133109 128 0.01176146 193 0.00028803210652331607 1.642586 44 60 0.005248718 Mouse Phenotype Single KO early cellular replicative senescence 2 2.608764e-22 1.1944225974e-18 2.997858 108 0.009923734 292 0.00306795375369863 1.593768 37 52 0.004413694 Mouse Phenotype Single KO absent hypoglossal canal 3 1.023671e-18 3.124585115666667e-15 7.754791 33 0.003032252 519 0.027795129570327554 2.23989 8 8 0.0009543123 Mouse Phenotype Single KO absent hypoglossal nerve 7 1.261512e-14 1.650237912e-11 4.352256 42 0.00385923 477 0.019311997817610064 1.941238 13 15 0.001550757 Mouse Phenotype Single KO subcutaneous edema 19 8.855828e-11 4.268042999789474e-8 2.521271 64 0.005880731 379 0.008804554559894458 1.717249 23 30 0.002743648 Mouse Phenotype Single KO increased squamous cell carcinoma incidence 31 1.742813e-9 5.148044722903226e-7 2.573066 53 0.004869981 453 0.016826460510596025 1.722993 20 26 0.002385781 Mouse Phenotype Single KO delayed cellular replicative senescence 36 3.768273e-9 9.5850210725e-7 4.811409 22 0.002021501 519 0.027795129570327554 2.23989 8 8 0.0009543123 Mouse Phenotype Single KO absent stapedial artery 43 1.303444e-8 0.0000027757294669767445 2.833344 40 0.003675457 411 0.01134107149489051 1.959904 14 16 0.001670047 Mouse Phenotype Single KO abnormal stapedial artery morphology 50 2.660379e-8 0.0000048722181006 2.75734 40 0.003675457 524 0.029559145503816796 1.844616 14 17 0.001670047 Mouse Phenotype Single KO thoracic vertebral transformation 52 3.064006e-8 0.000005395596719615384 2.051021 72 0.006615823 272 0.002239130237794118 1.633253 35 48 0.004175116 Mouse Phenotype Single KO thin hypoglossal nerve 87 4.550644e-7 0.000047896835756321845 2.744628 33 0.003032252 477 0.019311997817610064 1.941238 13 15 0.001550757 Mouse Phenotype Single KO abnormal third pharyngeal arch artery morphology 101 0.000001018573 0.00009234725703960397 2.300011 43 0.003951116 474 0.01917382877700422 2.053233 11 12 0.001312179 Mouse Phenotype Single KO abnormal thymus development 112 0.000001635713 0.00013373414233035715 2.336277 40 0.003675457 605 0.04782026055041322 1.819911 13 16 0.001550757 Mouse Phenotype Single KO small superior cervical ganglion 124 0.000002339383 0.00017275588815322582 2.064901 51 0.004686208 404 0.010846788354950494 1.679918 24 32 0.002862937 Mouse Phenotype Single KO fusion of atlas and odontoid process 271 0.0001243901 0.004203100168634686 2.122037 31 0.002848479 366 0.00784717871693989 2.23989 10 10 0.00119289 Mouse Phenotype Single KO decreased thoracic vertebrae number 401 0.0005955312 0.013599199996009975 2.06895 26 0.002389047 474 0.01917382877700422 2.053233 11 12 0.001312179 Mouse Phenotype Single KO tachypnea 457 0.0009578202 0.01919203407308534 2.144732 22 0.002021501 549 0.03420556485428051 2.036264 10 11 0.00119289 Mouse Phenotype Single KO increased circulating fructosamine level 496 0.001254062 0.02315210833467742 2.141332 21 0.001929615 314 0.004080854961146497 2.23989 11 11 0.001312179 Mouse Phenotype abnormal cellular replicative senescence 1 6.358749e-35 6.0795999189e-31 2.920969 181 0.01663144 261 0.00006572235063218391 1.573256 59 84 0.007038053 Mouse Phenotype early cellular replicative senescence 2 1.734255e-31 8.2906060275e-28 2.936551 161 0.01479371 285 0.00012573661035789472 1.595538 52 73 0.00620303 Mouse Phenotype absent hypoglossal canal 3 1.023671e-18 3.2624394770000005e-15 7.754791 33 0.003032252 737 0.020437072090909093 2.23989 8 8 0.0009543123 Mouse Phenotype abnormal DNA repair 4 5.965057e-18 1.425797749425e-14 2.163655 156 0.01433428 859 0.03441564871362049 1.285183 70 122 0.008350233 Mouse Phenotype absent hypoglossal nerve 14 1.261512e-14 8.615225880000001e-12 4.352256 42 0.00385923 664 0.014485303775602412 1.941238 13 15 0.001550757 Mouse Phenotype enlarged liver sinusoidal spaces 28 2.532711e-11 8.648303525357142e-9 2.141195 95 0.008729211 611 0.01017986584762684 1.584313 29 41 0.003459382 Mouse Phenotype subcutaneous edema 31 8.855828e-11 2.7313087583225805e-8 2.521271 64 0.005880731 552 0.006311863892391304 1.717249 23 30 0.002743648 Mouse Phenotype absent stapedial artery 36 2.367882e-10 6.288699945e-8 2.761562 52 0.004778094 405 0.001493063465555556 2.004112 17 19 0.002027914 Mouse Phenotype thoracic vertebral transformation 40 4.696686e-10 1.1226253711499999e-7 2.094657 87 0.007994119 360 0.0007242422974166666 1.611149 41 57 0.004890851 Mouse Phenotype abnormal stapedial artery morphology 41 4.705822e-10 1.0973747351707318e-7 2.705647 52 0.004778094 498 0.0047010861036144574 1.903907 17 20 0.002027914 Mouse Phenotype tumor regression 51 2.183114e-9 4.0926966576470586e-7 5.488972 20 0.001837729 737 0.020437072090909093 2.23989 8 8 0.0009543123 Mouse Phenotype increased kidney tumor incidence 64 9.540872e-9 0.000001425316831125 3.128933 35 0.003216025 865 0.03492217700462427 1.819911 13 16 0.001550757 Mouse Phenotype abnormal third pharyngeal arch artery morphology 75 1.592039e-8 0.0000020295313172000004 2.124428 69 0.006340164 626 0.011423217046964857 1.813244 17 21 0.002027914 Mouse Phenotype abnormal intestine placement 78 2.191222e-8 0.0000026859325053846153 3.886384 25 0.002297161 941 0.0427421202848034 2.015901 9 10 0.001073601 Mouse Phenotype tachypnea 109 1.356968e-7 0.00001190272573211009 2.705361 37 0.003399798 647 0.01324336521236476 1.866575 15 18 0.001789336 Mouse Phenotype abnormal sternebra number 116 1.78393e-7 0.000014703581663793104 3.581891 24 0.002205274 916 0.039931714817685586 1.895292 11 13 0.001312179 Mouse Phenotype thin hypoglossal nerve 137 4.550644e-7 0.000031758180499270075 2.744628 33 0.003032252 664 0.014485303775602412 1.941238 13 15 0.001550757 Mouse Phenotype increased sternebra number 178 0.00000171475 0.0000921051952247191 3.744538 19 0.001745842 893 0.03779742742441209 2.23989 7 7 0.0008350233 Mouse Phenotype abnormal DNA replication 191 0.000002104584 0.00010535040640837698 2.166574 46 0.004226776 763 0.023343764182175625 1.659178 20 27 0.002385781 Mouse Phenotype polyploidy 204 0.000002955384 0.00013851189423529412 2.015784 53 0.004869981 950 0.04471616295473684 1.567923 21 30 0.00250507