# 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 intrinsic apoptotic signaling pathway in response to DNA damage 81 1.430855e-20 2.324521104320988e-18 2.935333 102 0.01288367 436 0.0011496710451834864 1.68083 41 69 0.006176559 GO Biological Process negative regulation of protein ubiquitination 136 6.235481e-14 6.03328635875e-12 2.015277 139 0.01755716 764 0.016203655013089003 1.373361 67 138 0.0100934 GO Biological Process transport of virus 138 7.444542e-14 7.0987484186956516e-12 2.576115 82 0.01035746 837 0.02435172782317802 1.519906 36 67 0.00542332 GO Biological Process multi-organism transport 142 1.362801e-13 1.2628942506338029e-11 2.528902 83 0.01048377 957 0.037689782295715776 1.474118 37 71 0.005573968 GO Biological Process negative regulation of ubiquitin-protein transferase activity 152 1.11415e-12 9.64546042763158e-11 2.382106 86 0.0108627 913 0.02956108095071194 1.448032 43 84 0.006477855 GO Biological Process regulation of transcription from RNA polymerase II promoter in response to stress 153 1.36274e-12 1.172045467973856e-10 2.08529 114 0.01439939 721 0.012476206684049931 1.426873 57 113 0.008586924 GO Biological Process mitotic DNA damage checkpoint 164 7.965341e-12 6.391214769451219e-10 2.024651 114 0.01439939 446 0.0013136234339910314 1.555792 55 100 0.008285628 GO Biological Process nuclear-transcribed mRNA catabolic process, nonsense-mediated decay 168 1.132009e-11 8.866730018452381e-10 2.182987 94 0.01187318 563 0.004492926687033747 1.462301 61 118 0.009189515 GO Biological Process RNA 3'-end processing 180 2.981558e-11 2.179684540111111e-9 2.183929 90 0.01136794 759 0.015934564242160738 1.427575 54 107 0.00813498 GO Biological Process negative regulation of autophagy 199 1.188236e-10 7.857285187939699e-9 2.084723 94 0.01187318 935 0.03386845124064171 1.500075 35 66 0.005272672 GO Biological Process mitochondrial translation 231 1.353515e-9 7.710348002164502e-8 2.096222 82 0.01035746 449 0.001438471249287305 1.533321 58 107 0.008737572 GO Biological Process apoptotic mitochondrial changes 232 1.377176e-9 7.811318527586208e-8 2.106296 81 0.01023115 767 0.01657737364915254 1.582162 33 59 0.004971377 GO Biological Process cytoplasmic microtubule organization 235 1.933363e-9 1.0826010092340427e-7 2.488372 56 0.007073386 908 0.02941465471806167 1.655832 24 41 0.003615547 GO Biological Process translational elongation 252 3.673956e-9 1.9184756747619046e-7 2.009892 86 0.0108627 994 0.04460403235010061 1.363844 54 112 0.00813498 GO Biological Process regulation of megakaryocyte differentiation 254 4.018594e-9 2.0819164742519683e-7 2.024654 84 0.01061008 969 0.041548843131062954 1.451577 39 76 0.005875264 GO Biological Process mitochondrial translational termination 260 5.462837e-9 2.764825849346154e-7 2.228356 66 0.008336491 943 0.03467784432343585 1.430614 44 87 0.006628503 GO Biological Process positive regulation of intrinsic apoptotic signaling pathway 287 1.1467e-8 5.257639477351916e-7 2.230754 63 0.00795756 733 0.013551989136698498 1.623891 31 54 0.004670081 GO Biological Process mitochondrial translational elongation 294 1.53813e-8 6.88443968367347e-7 2.196655 64 0.00808387 959 0.037696116649635035 1.430996 43 85 0.006477855 GO Biological Process negative regulation of cardiac muscle cell apoptotic process 300 2.148682e-8 9.424835479333334e-7 2.968675 36 0.004547177 841 0.024897766810939356 2.04296 13 18 0.001958421 GO Biological Process positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway 354 9.604889e-8 0.0000035703597274293786 2.22808 55 0.006947076 933 0.0331240237931404 1.681938 22 37 0.003314251 GO Cellular Component large ribosomal subunit 55 1.194162e-9 3.7518398836363634e-8 2.060854 86 0.0108627 65 0.00838332288 1.451253 59 115 0.008888219 GO Cellular Component aggresome 71 2.467835e-8 6.006223774647888e-7 2.182901 63 0.00795756 54 0.00214135456 1.885809 26 39 0.003916842 GO Cellular Component exosome (RNase complex) 109 0.000003734349 0.00005920142267889908 2.846716 26 0.003284072 61 0.005274966452459017 2.090788 17 23 0.002561012 GO Cellular Component RISC-loading complex 249 0.003888909 0.026988091373493978 2.50746 12 0.001515726 89 0.029162737617977524 2.514412 8 9 0.001205182 GO Molecular Function RNA polymerase II repressing transcription factor binding 55 8.782047e-7 0.00006741418624363637 2.196694 48 0.006062903 103 0.03691520046601941 1.853295 19 29 0.002862308 GO Molecular Function DNA N-glycosylase activity 65 0.000001665893 0.00010820615763076924 4.124732 17 0.002147278 110 0.04654950747272727 2.222561 11 14 0.001657126 GO Molecular Function sugar:proton symporter activity 257 0.002172051 0.03568248763424124 2.242433 17 0.002147278 98 0.022821753893877555 2.262971 12 15 0.001807773 Human Phenotype Multicystic kidney dysplasia 148 0.000006397755 0.00028846093996621623 2.454912 32 0.004041935 328 0.03055778282926829 2.514412 8 9 0.001205182 Human Phenotype Horseshoe kidney 150 0.000006635742 0.00029520204243999997 2.068995 46 0.005810282 286 0.020639640330769232 1.824976 20 31 0.003012956 Human Phenotype Hamartoma 165 0.000008793284 0.00035562172201212124 2.027709 47 0.005936592 291 0.02076656174329897 1.885809 18 27 0.00271166 Human Phenotype Bronchomalacia 189 0.00001708991 0.0006033913726455027 2.235316 35 0.004420866 378 0.04823126121957672 2.175933 10 13 0.001506478 Human Phenotype Colon cancer 496 0.001299923 0.017488681812499997 2.735081 13 0.001642036 328 0.03055778282926829 2.514412 8 9 0.001205182 Human Phenotype Skin appendage neoplasm 522 0.001731043 0.02212883130076628 2.293113 17 0.002147278 353 0.03684496004815864 2.828713 6 6 0.0009038867 Mouse Phenotype Single KO abnormal facial motor nucleus morphology 16 8.80458e-12 5.03897119125e-9 3.357908 45 0.005683971 436 0.025471602653669722 2.222561 11 14 0.001657126 Mouse Phenotype Single KO spleen atrophy 18 1.661746e-11 8.45367117888889e-9 2.909782 54 0.006820765 401 0.018799807394264338 2.02051 15 21 0.002259717 Mouse Phenotype Single KO abnormal metanephros morphology 21 2.233497e-11 9.73911049e-9 2.522769 68 0.008589112 465 0.03329219351612903 1.980099 14 20 0.002109069 Mouse Phenotype Single KO abnormal cell adhesion 22 4.526104e-11 1.8838879239999998e-8 2.037271 104 0.01313629 418 0.021167283958612438 1.582162 33 59 0.004971377 Mouse Phenotype Single KO abnormal facial nerve morphology 39 1.612467e-9 3.7859898253846157e-7 2.238593 70 0.008841733 468 0.03326961155128205 1.818459 18 28 0.00271166 Mouse Phenotype Single KO abnormal sternebra number 44 2.40686e-9 5.009003868181818e-7 4.718642 23 0.002905141 519 0.04820422999807322 2.175933 10 13 0.001506478 Mouse Phenotype Single KO abnormal KLRG1-positive NK cell number 78 2.049043e-8 0.000002405523942435898 2.667218 43 0.00543135 396 0.017389295616666665 2.084315 14 19 0.002109069 Mouse Phenotype Single KO increased squamous cell carcinoma incidence 113 4.369535e-7 0.00003540870088053097 2.535985 38 0.004799798 258 0.0035119930830620153 2.067137 19 26 0.002862308 Mouse Phenotype Single KO iris synechia 115 5.227102e-7 0.000041621367838260875 2.107691 55 0.006947076 235 0.0022197144696170213 2.262971 16 20 0.002410365 Mouse Phenotype Single KO increased hemangiosarcoma incidence 195 0.00000496299 0.00023305692015384614 2.341029 36 0.004547177 476 0.033772401092436975 1.885809 16 24 0.002410365 Mouse Phenotype Single KO increased muscle cell glucose uptake 228 0.00001136735 0.00045653870153508776 2.006699 47 0.005936592 401 0.018799807394264338 2.02051 15 21 0.002259717 Mouse Phenotype Single KO atrium hypoplasia 291 0.00003238707 0.0010191353951546393 2.192799 34 0.004294556 309 0.007209383149190939 2.828713 8 8 0.001205182 Mouse Phenotype Single KO polysyndactyly 527 0.0003630548 0.0063083354907020875 2.016124 30 0.003789314 436 0.025471602653669722 2.222561 11 14 0.001657126 Mouse Phenotype Single KO decreased mortality induced by ionizing radiation 869 0.003498213 0.036862067250863065 2.83401 10 0.001263105 387 0.016294119599741603 2.828713 7 7 0.001054534 Mouse Phenotype spleen atrophy 34 2.400339e-12 6.749894464411765e-10 2.927947 58 0.007326007 557 0.007734625852782765 1.95834 18 26 0.00271166 Mouse Phenotype abnormal rib development 56 1.050048e-10 1.7927694514285714e-8 2.599036 60 0.007578628 786 0.032636059919847325 1.714372 20 33 0.003012956 Mouse Phenotype abnormal facial motor nucleus morphology 61 2.33223e-10 3.655483775409836e-8 2.981389 46 0.005810282 685 0.020022157681751827 2.121535 12 16 0.001807773 Mouse Phenotype abnormal sternum manubrium morphology 76 1.024935e-9 1.2893952019736844e-7 3.668238 32 0.004041935 865 0.042069792700578035 2.475124 7 8 0.001054534 Mouse Phenotype abnormal sternebra number 83 2.40686e-9 2.772528730120482e-7 4.718642 23 0.002905141 791 0.033023730261694056 2.175933 10 13 0.001506478 Mouse Phenotype abnormal Bergmann glial cell morphology 103 6.071028e-9 5.635446476504855e-7 2.9146 40 0.005052419 457 0.0032791049973741795 2.424612 12 14 0.001807773 Mouse Phenotype abnormal KLRG1-positive NK cell number 111 2.049043e-8 0.0000017649459570270271 2.667218 43 0.00543135 610 0.011786841551803278 2.084315 14 19 0.002109069 Mouse Phenotype decreased cellular sensitivity to ultraviolet irradiation 121 2.899583e-8 0.000002291149839917355 3.707002 26 0.003284072 575 0.008808304870956522 2.262971 12 15 0.001807773 Mouse Phenotype ectopic ureteric bud 163 2.890175e-7 0.00001695273814417178 2.360752 45 0.005683971 638 0.013863919058463951 2.357261 10 12 0.001506478 Mouse Phenotype decreased activated T cell number 391 0.0000277064 0.000677495883375959 2.78329 22 0.00277883 744 0.028322020846774192 2.314402 9 11 0.00135583 Mouse Phenotype atrium hypoplasia 398 0.00003238707 0.0007780220509296482 2.192799 34 0.004294556 495 0.004698957224848485 2.828713 8 8 0.001205182 Mouse Phenotype absent second pharyngeal arch 472 0.00007221207 0.0014627533925211866 2.029717 37 0.004673487 834 0.03791367547482015 1.996739 12 17 0.001807773 Mouse Phenotype ectopic Bergmann glia cells 724 0.0005495221 0.007256879555386741 2.749194 15 0.001894657 723 0.025774882336099585 2.828713 6 6 0.0009038867 Mouse Phenotype increased eye tumor incidence 845 0.001291793 0.014616370263905325 3.260732 10 0.001263105 723 0.025774882336099585 2.828713 6 6 0.0009038867