# 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 negative regulation of translation 100 4.980237e-26 6.553493868299999e-24 2.023497 273 0.02478664 468 0.0001877047559786325 1.476596 81 143 0.01124531 GO Biological Process response to epidermal growth factor 118 2.617227e-24 2.91865170279661e-22 2.703181 140 0.01271109 251 1.423317283984064e-7 2.172359 35 42 0.004859086 GO Biological Process cellular response to epidermal growth factor stimulus 121 4.257404e-24 4.630014812892562e-22 2.771307 133 0.01207554 314 0.000002522763436401274 2.126625 31 38 0.004303762 GO Biological Process positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay 127 2.47981e-23 2.5694346291338582e-21 3.839448 81 0.007354276 793 0.009657260667213114 2.11805 13 16 0.001804804 GO Biological Process positive regulation of fibroblast proliferation 145 6.712293e-22 6.091521626689656e-20 2.260089 176 0.01597966 571 0.0009365437750612959 1.721492 35 53 0.004859086 GO Biological Process positive regulation of actin filament bundle assembly 183 1.003107e-19 7.213051919672131e-18 2.373842 142 0.01289268 743 0.006276008829205922 1.611495 34 55 0.004720255 GO Biological Process positive regulation of phosphoprotein phosphatase activity 237 2.68487e-17 1.4907259210970464e-15 2.841468 89 0.008080625 793 0.009657260667213114 2.11805 13 16 0.001804804 GO Biological Process positive regulation of cell-matrix adhesion 240 3.042492e-17 1.6681730095e-15 2.198586 144 0.01307427 941 0.02271872682678002 1.586766 28 46 0.003887269 GO Biological Process regulation of cardiac muscle hypertrophy 248 8.221619e-17 4.36243082342742e-15 2.069902 161 0.01461776 866 0.015236313777136261 1.636847 27 43 0.003748438 GO Biological Process cholesterol import 256 1.523266e-16 7.82994425546875e-15 5.09503 41 0.003722535 1086 0.03856191635451198 2.60683 6 6 0.0008329863 GO Biological Process positive regulation of stress fiber assembly 272 3.164499e-16 1.530942733125e-14 2.292751 123 0.0111676 863 0.015106843058632675 1.60847 29 47 0.0040261 GO Biological Process semaphorin-plexin signaling pathway 273 3.317004e-16 1.5988445287912088e-14 2.399228 112 0.01016888 595 0.0012080678557310925 2.063741 19 24 0.00263779 GO Biological Process regulation of muscle hypertrophy 277 4.559291e-16 2.1659101180144403e-14 2.023064 162 0.01470855 865 0.015200855407745665 1.622028 28 45 0.003887269 GO Biological Process regulation of pri-miRNA transcription from RNA polymerase II promoter 291 1.29369e-15 5.850057288659793e-14 2.452031 103 0.009351734 1049 0.03475610525929457 1.707923 19 29 0.00263779 GO Biological Process regulation of erythrocyte differentiation 295 1.746762e-15 7.79174276542373e-14 2.393087 107 0.009714908 953 0.023273493440713538 1.629269 25 40 0.003470776 GO Biological Process gene silencing by miRNA 326 9.066549e-15 3.659715285e-13 2.564401 89 0.008080625 944 0.023031386414194915 1.599646 27 44 0.003748438 GO Biological Process cell aging 336 1.746627e-14 6.840435920535714e-13 2.024618 144 0.01307427 1026 0.03344398326608187 1.461405 37 66 0.005136749 GO Biological Process positive regulation of extracellular matrix organization 354 6.104407e-14 2.269149483418079e-12 2.918952 67 0.006083167 1125 0.04372618731111111 1.882711 13 18 0.001804804 GO Biological Process regulation of tau-protein kinase activity 393 5.1711e-13 1.7314632290076335e-11 3.485926 48 0.00435809 1086 0.03856191635451198 2.60683 6 6 0.0008329863 GO Biological Process peptidyl-threonine dephosphorylation 405 8.423256e-13 2.736830264296296e-11 3.118462 55 0.004993644 974 0.026082205311088295 2.172359 10 12 0.00138831 GO Cellular Component stress fiber 31 3.335273e-28 1.8591457238709678e-26 2.723093 162 0.01470855 91 0.004034128035164835 1.654335 33 52 0.004581424 GO Cellular Component actin filament bundle 33 9.418978e-27 4.932119389090909e-25 2.533196 174 0.01579808 92 0.004006399930434782 1.618033 36 58 0.004997918 GO Cellular Component actomyosin 38 1.61914e-23 7.362826105263159e-22 2.332018 178 0.01616125 84 0.0015901333714285714 1.629269 40 64 0.005553242 GO Cellular Component eukaryotic translation initiation factor 4F complex 141 9.629396e-7 0.000011801132119148935 3.73567 20 0.001815871 89 0.0034817685573033707 2.60683 9 9 0.001249479 GO Cellular Component clathrin coat of endocytic vesicle 177 0.00002108972 0.00020589285966101693 2.087004 40 0.003631741 132 0.03448197818181818 2.048224 11 14 0.001527141 GO Molecular Function cyclin-dependent protein serine/threonine kinase activity 18 8.840732e-21 2.073642805777778e-18 3.384079 84 0.007626657 74 0.00022018973778378378 2.085464 24 30 0.003331945 GO Molecular Function cyclin-dependent protein kinase activity 20 1.613533e-20 3.4061681630000003e-18 3.350086 84 0.007626657 79 0.0005797046493670886 2.018191 24 31 0.003331945 GO Molecular Function bHLH transcription factor binding 48 3.221011e-14 2.8331475920833336e-12 2.244541 111 0.01007808 84 0.0008510159745238096 2.048224 22 28 0.003054283 GO Molecular Function protein serine/threonine kinase inhibitor activity 62 2.944713e-12 2.0052545622580647e-10 2.325534 87 0.007899038 82 0.0007110285646341465 1.974872 25 33 0.003470776 GO Molecular Function semaphorin receptor binding 66 7.706596e-12 4.929886107878788e-10 2.548165 70 0.006355547 94 0.0030873725336170213 2.60683 10 10 0.00138831 GO Molecular Function histone acetyltransferase binding 69 2.122078e-11 1.2984656979710145e-9 2.271876 84 0.007626657 108 0.006903959042592593 1.930986 20 27 0.002776621 GO Molecular Function insulin-like growth factor binding 76 5.356672e-11 2.9757722610526317e-9 2.216067 85 0.007717451 99 0.0038064473044444446 1.955123 21 28 0.002915452 GO Molecular Function fibronectin binding 86 5.065056e-10 2.4865891199999998e-8 2.232183 75 0.006809515 126 0.025015450523809525 1.834436 19 27 0.00263779 GO Molecular Function type I transforming growth factor beta receptor binding 116 7.779092e-8 0.0000028313212434482757 2.5733 42 0.003813328 109 0.006946049893577981 2.60683 9 9 0.001249479 GO Molecular Function SUMO transferase activity 319 0.0007388092 0.009778220822570531 2.006973 27 0.002451425 117 0.013500375456410257 2.058024 15 19 0.002082466 Human Phenotype Aortic dilatation 5 8.026569e-22 1.0712258987400001e-18 3.064662 102 0.009260941 37 0.006314585955945946 2.027535 21 27 0.002915452 Human Phenotype Mitral valve prolapse 16 3.640828e-18 1.51845282775e-15 2.362657 131 0.01189395 33 0.005314312492121212 1.843856 29 41 0.0040261 Human Phenotype Abnormal mitral valve morphology 32 3.873103e-14 8.0766300996875e-12 2.055391 135 0.01225713 75 0.018356435396 1.683578 31 48 0.004303762 Human Phenotype Dilatation 45 2.895016e-12 4.292987059555556e-10 2.474621 77 0.006991102 105 0.042423781801904765 1.876918 18 25 0.002498959 Human Phenotype Prominent superficial veins 513 0.000584745 0.007606244415204679 2.230014 22 0.001997458 94 0.03320854654574468 2.60683 8 8 0.001110648 Mouse Phenotype Single KO abnormal blood vessel elastic tissue morphology 51 1.950225e-21 3.501609867647059e-19 3.835764 74 0.006718722 828 0.026442894507246375 1.813447 16 23 0.002221297 Mouse Phenotype Single KO abnormal pharyngeal arch artery morphology 78 1.119016e-18 1.3136960912820514e-16 2.073418 180 0.01634284 339 0.0004244466686135693 1.836631 31 44 0.004303762 Mouse Phenotype Single KO abnormal osteoblast differentiation 87 1.713795e-17 1.8038184844827586e-15 2.22864 142 0.01289268 840 0.02868902271547619 1.564098 27 45 0.003748438 Mouse Phenotype Single KO abnormal embryonic hematopoiesis 88 2.351598e-17 2.446998055227273e-15 2.117382 158 0.01434538 709 0.012172826307334272 1.573935 32 53 0.004442593 Mouse Phenotype Single KO abnormal carotid artery morphology 131 3.922899e-13 2.742136346793893e-11 2.146858 112 0.01016888 409 0.0010982140104645478 1.824781 28 40 0.003887269 Mouse Phenotype Single KO lacrimal gland inflammation 137 5.639263e-13 3.76925045919708e-11 3.278197 52 0.004721264 903 0.032865456642303434 1.955123 12 16 0.001665973 Mouse Phenotype Single KO increased cellular sensitivity to oxidative stress 145 1.688805e-12 1.0665094748275862e-10 2.705739 67 0.006083167 792 0.01941641261742424 1.665475 23 36 0.003193114 Mouse Phenotype Single KO abnormal paravertebral ganglion morphology 155 4.699694e-12 2.776457932774194e-10 2.074998 110 0.009987289 928 0.04009048075754311 1.530096 27 46 0.003748438 Mouse Phenotype Single KO abnormal aorta wall morphology 157 5.513231e-12 3.215583201719745e-10 2.085117 108 0.009805702 928 0.04009048075754311 1.530096 27 46 0.003748438 Mouse Phenotype Single KO abnormal extracellular matrix morphology 181 1.607757e-11 8.133829198342542e-10 2.002585 114 0.01035046 459 0.0020886917501089326 1.758095 29 43 0.0040261 Mouse Phenotype Single KO abnormal lacrimal gland physiology 202 7.788624e-11 3.5307143548514853e-9 2.672631 58 0.005266025 818 0.02436850093398533 1.862022 15 21 0.002082466 Mouse Phenotype Single KO increased osteoblast cell number 207 9.786107e-11 4.329052260821256e-9 2.07629 96 0.008716179 782 0.01896057553580563 1.710733 21 32 0.002915452 Mouse Phenotype Single KO abnormal inguinal fat pad morphology 213 1.276564e-10 5.488026548356808e-9 2.000156 104 0.009442528 427 0.0014671013003044494 1.720508 33 50 0.004581424 Mouse Phenotype Single KO increased bone trabecula number 235 3.60115e-10 1.4032225765957447e-8 2.086634 89 0.008080625 966 0.04246213703623188 1.564098 24 40 0.003331945 Mouse Phenotype Single KO heart inflammation 237 4.056139e-10 1.56717573092827e-8 2.11163 86 0.007808244 611 0.007159579543535188 1.792196 22 32 0.003054283 Mouse Phenotype Single KO enlarged liver sinusoidal spaces 287 2.79725e-9 8.924884407665506e-8 2.095353 79 0.007172689 562 0.0048925329604982215 1.761372 25 37 0.003470776 Mouse Phenotype Single KO spontaneous skin ulceration 288 2.92429e-9 9.29782067013889e-8 2.415537 58 0.005266025 836 0.028024133185406697 1.772645 17 25 0.002360128 Mouse Phenotype Single KO increased papilloma incidence 296 4.104378e-9 1.2697226130405404e-7 2.098743 77 0.006991102 1004 0.044097011023904384 1.629269 20 32 0.002776621 Mouse Phenotype Single KO decreased inguinal fat pad weight 323 9.103862e-9 2.5809307843343655e-7 2.280845 61 0.005538406 675 0.010127682697777777 1.834436 19 27 0.00263779 Mouse Phenotype Single KO abnormal ascending aorta morphology 341 1.609021e-8 4.3207640167155425e-7 2.279222 59 0.005356819 680 0.010492609047794118 2.027535 14 18 0.001943635 Mouse Phenotype liver hypoplasia 83 1.36802e-22 1.5758601469879517e-20 2.081905 219 0.01988378 403 0.000024649942444168734 1.737887 48 72 0.00666389 Mouse Phenotype tumor regression 94 1.69023e-21 1.7191796840425531e-19 9.220266 34 0.00308698 1432 0.043311577037011176 2.280977 7 8 0.0009718173 Mouse Phenotype decreased fibroblast proliferation 101 7.653051e-21 7.244635704059406e-19 2.006041 220 0.01997458 619 0.00043052009113085627 1.463836 73 130 0.01013467 Mouse Phenotype decreased DN4 thymocyte number 121 2.629168e-19 2.0774772932231404e-17 3.143409 86 0.007808244 1114 0.016421498124775582 1.920822 14 19 0.001943635 Mouse Phenotype abnormal blood vessel elastic tissue morphology 128 4.46908e-19 3.338193271875e-17 3.219633 82 0.00744507 1362 0.03408273269603524 1.650993 19 30 0.00263779 Mouse Phenotype abnormal bone marrow morphology 133 1.306217e-18 9.390030629323308e-17 2.165487 162 0.01470855 1010 0.010719035893069306 1.495094 39 68 0.005414411 Mouse Phenotype abnormal embryonic hematopoiesis 153 5.008661e-17 3.1299220798039213e-15 2.021815 173 0.01570728 745 0.0016478415583892618 1.623927 38 61 0.00527558 Mouse Phenotype thymus cortex atrophy 224 3.184133e-13 1.3590846255803571e-11 4.198793 39 0.003540948 1432 0.043311577037011176 2.280977 7 8 0.0009718173 Mouse Phenotype enlarged liver sinusoidal spaces 306 2.165616e-11 6.766488423529411e-10 2.137999 96 0.008716179 715 0.0013117642523496503 1.780274 28 41 0.003887269 Mouse Phenotype spontaneous skin ulceration 311 2.653551e-11 8.157749553376205e-10 2.314389 80 0.007263483 773 0.002190658868305304 1.759611 27 40 0.003748438 Mouse Phenotype lacrimal gland inflammation 337 7.653067e-11 2.171245507032641e-9 2.622623 60 0.005447612 879 0.005209096026621161 1.986157 16 21 0.002221297 Mouse Phenotype absent hypoglossal nerve 341 8.64508e-11 2.4239181782991204e-9 3.686135 36 0.003268567 1424 0.04330088944171348 1.911676 11 15 0.001527141 Mouse Phenotype abnormal ileum morphology 385 3.187788e-10 7.916478199480519e-9 2.082259 90 0.008171418 1087 0.01482536400275989 1.629269 25 40 0.003470776 Mouse Phenotype small myocardial fiber 411 6.702829e-10 1.5592639432846714e-8 2.02306 93 0.008443799 1338 0.033069148051569505 1.737887 16 24 0.002221297 Mouse Phenotype abnormal lacrimal gland physiology 441 1.745953e-9 3.7852736129251706e-8 2.298295 66 0.005992373 844 0.003913651481872038 1.904992 19 26 0.00263779 Mouse Phenotype decreased cellular sensitivity to ultraviolet irradiation 509 1.385339e-8 2.6022055361493123e-7 3.279556 32 0.002905393 1424 0.04330088944171348 1.911676 11 15 0.001527141 Mouse Phenotype abnormal Langerhans cell morphology 536 2.810453e-8 5.013197972574628e-7 2.297625 56 0.005084438 1495 0.049194542658862875 1.783621 13 19 0.001804804 Mouse Phenotype absent hypoglossal canal 542 3.312273e-8 5.842922906457564e-7 4.643973 20 0.001815871 1432 0.043311577037011176 2.280977 7 8 0.0009718173 Mouse Phenotype abnormal thoracic cage shape 594 1.176911e-7 0.0000018943511904040402 2.073587 64 0.005810786 1344 0.033872880109374996 1.704466 17 26 0.002360128 Mouse Phenotype abnormal cardiac neural crest cell morphology 667 3.762522e-7 0.000005393324264167915 2.631348 36 0.003268567 1432 0.043311577037011176 2.280977 7 8 0.0009718173