# 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 79 4.790908e-18 7.98019726227848e-16 2.151862 158 0.02348395 389 0.001421944626118252 1.430052 89 198 0.01507963 GO Biological Process nuclear-transcribed mRNA catabolic process, nonsense-mediated decay 85 9.663072e-18 1.4959572288e-15 2.70541 99 0.01471463 651 0.028459925399385556 1.428963 53 118 0.008980007 GO Biological Process rRNA processing 87 4.61798e-17 6.984827450574712e-15 2.009261 175 0.0260107 493 0.005925377587423935 1.338235 106 252 0.01796001 GO Biological Process mRNA catabolic process 94 5.821011e-16 8.148796143510639e-14 2.007443 163 0.02422711 415 0.0019546312012289156 1.404026 94 213 0.0159268 GO Biological Process regulation of transcription from RNA polymerase II promoter in response to stress 98 1.264847e-15 1.6983797625510204e-13 2.367713 110 0.01634958 396 0.0014334593823989899 1.576655 56 113 0.009488309 GO Biological Process adherens junction assembly 105 2.007862e-14 2.5163291483809526e-12 2.879296 71 0.01055291 500 0.006725693858199999 1.965022 21 34 0.003558116 GO Biological Process regulation of DNA-templated transcription in response to stress 107 2.293777e-14 2.8209169666355136e-12 2.207328 116 0.01724138 412 0.0018649723701213592 1.550629 58 119 0.009827177 GO Biological Process regulation of transcription from RNA polymerase II promoter in response to hypoxia 139 2.747055e-11 2.600611276618705e-9 2.368648 76 0.01129608 549 0.011343853771948999 1.590732 39 78 0.00660793 GO Biological Process mitotic spindle organization 150 1.12007e-10 9.826000753333332e-9 2.227049 81 0.01203924 707 0.03734079362517681 1.545282 34 70 0.005760759 GO Biological Process base-excision repair, AP site formation 178 1.038071e-9 7.67414398258427e-8 8.277083 15 0.002229489 722 0.04054902108171745 2.545171 8 10 0.001355473 GO Biological Process cytoplasmic microtubule organization 179 1.069264e-9 7.86058378547486e-8 2.666687 51 0.007580262 600 0.020163724312333334 1.784724 23 41 0.003896984 GO Biological Process mRNA transcription from RNA polymerase II promoter 186 1.279537e-9 9.05238031344086e-8 4.499605 25 0.003715815 611 0.0217145252193126 2.176791 13 19 0.002202643 GO Biological Process depyrimidination 190 1.715921e-9 1.1884107599473684e-7 9.856288 13 0.001932224 686 0.03365065133673469 2.783781 7 8 0.001186039 GO Biological Process pyrimidine deoxyribonucleotide catabolic process 194 2.435976e-9 1.6523200094845364e-7 6.14634 18 0.002675386 751 0.042647705731025304 2.386098 9 12 0.001524907 GO Biological Process protein kinase B signaling 199 3.337391e-9 2.2068707622613067e-7 2.325445 62 0.00921522 379 0.0012523673758311348 1.936543 28 46 0.004744155 GO Biological Process positive regulation of mesonephros development 328 4.471684e-7 0.000017939905413414634 2.15236 53 0.007877527 264 0.00007861929285984847 2.603016 18 22 0.003049814 GO Biological Process regulation of DNA-templated transcription, elongation 376 0.000001236846 0.00004328632051595744 2.392805 39 0.005796671 716 0.03990321559916201 1.701713 23 43 0.003896984 GO Biological Process axonal transport 429 0.00000327844 0.00010056175282051283 2.215532 42 0.006242568 626 0.02248534665654952 1.794672 22 39 0.00372755 GO Biological Process histone ubiquitination 433 0.000003559384 0.00010817074839722865 2.141053 45 0.006688466 626 0.02248534665654952 1.794672 22 39 0.00372755 GO Biological Process pyrimidine deoxyribonucleotide metabolic process 437 0.000004011891 0.00012080657590160183 2.983185 24 0.003567182 726 0.04049107676584022 2.120976 12 18 0.002033209 GO Cellular Component histone acetyltransferase complex 53 1.867944e-10 6.090202324528302e-9 2.122988 88 0.01307967 57 0.0036690987789473684 1.651139 41 79 0.006946798 GO Cellular Component BORC complex 54 2.106657e-10 6.7413024e-9 13.56446 12 0.001783591 84 0.036087696 2.783781 7 8 0.001186039 GO Cellular Component cytoplasmic microtubule 67 1.571329e-8 4.052621659701493e-7 2.260668 60 0.008917955 88 0.038475098181818185 1.654361 26 50 0.004405286 GO Cellular Component axon cytoplasm 100 0.000001647515 0.0000284690592 2.254504 43 0.006391201 70 0.014146743497142854 1.829342 23 40 0.003896984 GO Cellular Component chromatin silencing complex 136 0.00004216138 0.000535697534117647 4.591397 11 0.001634958 84 0.036087696 2.783781 7 8 0.001186039 GO Molecular Function leucine zipper domain binding 169 0.0001741884 0.0043516178982248525 2.504369 21 0.003121284 112 0.03187176868035714 2.603016 9 11 0.001524907 Human Phenotype Sandal gap 36 5.393127e-7 0.00009996760130833333 2.25789 47 0.006985731 99 0.012514577902020204 2.163395 17 25 0.00288038 Human Phenotype Abnormality of adipose tissue 40 9.455518e-7 0.000157741679035 2.007499 59 0.008769322 110 0.01629501708909091 1.73027 31 57 0.005252457 Human Phenotype Steppage gait 70 0.000009239026 0.0008807431499714286 2.303531 35 0.00520214 173 0.04427331067052023 1.908878 18 30 0.003049814 Human Phenotype Onion bulb formation 195 0.0003166638 0.010836397627692309 2.03305 30 0.004458977 155 0.03455140773806451 2.036137 16 25 0.002710945 Mouse Phenotype Single KO abnormal cellular replicative senescence 9 2.747783e-17 2.795716547888889e-14 3.088324 78 0.01159334 417 0.019045964904796164 1.643756 31 60 0.005252457 Mouse Phenotype Single KO abnormal liver sinusoid morphology 35 8.875656e-12 2.3221251997714287e-9 2.297009 85 0.01263377 467 0.024565505468950748 1.590732 33 66 0.005591325 Mouse Phenotype Single KO absent hypoglossal canal 40 6.404845e-11 1.4662291416249999e-8 7.222248 19 0.002824019 510 0.03149762017843137 2.783781 7 8 0.001186039 Mouse Phenotype Single KO subcutaneous edema 41 1.284142e-10 2.868021535121951e-8 2.995023 47 0.006985731 256 0.0027345595600390626 2.120976 20 30 0.003388682 Mouse Phenotype Single KO enlarged liver sinusoidal spaces 89 4.188231e-9 4.30917205247191e-7 2.431517 56 0.008323424 347 0.01043132189798271 1.891681 22 37 0.00372755 Mouse Phenotype Single KO absent ductus venosus valve 127 7.513807e-8 0.000005417632338503936 2.646669 40 0.005945303 261 0.0028972442766666668 2.313792 16 22 0.002710945 Mouse Phenotype Single KO small superior cervical ganglion 130 9.749088e-8 0.000006867107601230769 2.619701 40 0.005945303 190 0.0007618373387368421 2.187256 22 32 0.00372755 Mouse Phenotype Single KO increased T cell derived lymphoma incidence 142 2.397502e-7 0.000015460511136619718 2.028505 64 0.009512485 493 0.02917531644219067 1.692268 25 47 0.004235852 Mouse Phenotype Single KO abnormal superior cervical ganglion morphology 143 2.40375e-7 0.00001539240472027972 2.097451 59 0.008769322 122 0.00004530459525819672 2.196725 29 42 0.004913589 Mouse Phenotype Single KO increased thymus tumor incidence 146 2.569347e-7 0.000016114733204794522 2.024314 64 0.009512485 540 0.03915015999074074 1.657012 25 48 0.004235852 Mouse Phenotype Single KO abnormal intestine placement 172 0.000001036113 0.000055160969424418616 4.274814 17 0.002526754 531 0.03836660561770244 2.545171 8 10 0.001355473 Mouse Phenotype Single KO abnormal third pharyngeal arch artery morphology 182 0.000001561192 0.00007854854474725274 2.682167 31 0.00460761 550 0.04052315471272728 2.386098 9 12 0.001524907 Mouse Phenotype Single KO abnormal lymph organ development 199 0.000002926924 0.00013468262848241206 2.433663 35 0.00520214 534 0.03830760643445693 2.120976 12 18 0.002033209 Mouse Phenotype Single KO abnormal metanephros morphology 203 0.00000304244 0.00013723952256157636 2.095484 48 0.007134364 132 0.00007752947478030303 2.704244 17 20 0.00288038 Mouse Phenotype Single KO increased CD4-negative NK T cell number 206 0.000003736561 0.0001660955780436893 2.917615 25 0.003715815 575 0.04880290832173913 3.181464 5 5 0.0008471705 Mouse Phenotype Single KO thin interventricular septum 207 0.000003872784 0.0001713192419710145 2.609035 30 0.004458977 442 0.020888132142533936 2.176791 13 19 0.002202643 Mouse Phenotype Single KO increased embryonic neuroepithelium apoptosis 228 0.000006620751 0.0002659044601184211 2.692125 27 0.00401308 304 0.005262341145394737 2.432884 13 17 0.002202643 Mouse Phenotype Single KO delayed cellular replicative senescence 251 0.000008668574 0.00031624753831872507 4.598917 13 0.001932224 510 0.03149762017843137 2.783781 7 8 0.001186039 Mouse Phenotype Single KO reduced sympathetic cervical ganglion size 266 0.00001489652 0.0005128099009022556 3.33078 18 0.002675386 438 0.02051175944429224 2.44728 10 13 0.001694341 Mouse Phenotype Single KO absent stapedial artery 314 0.00004194005 0.0012230733689490446 2.635298 23 0.003418549 546 0.03994171033882784 2.187256 11 16 0.001863775 Mouse Phenotype abnormal cellular replicative senescence 15 1.844945e-20 1.175967943e-17 2.819258 108 0.01605232 456 0.002641182219078948 1.628607 43 84 0.007285666 Mouse Phenotype early cellular replicative senescence 24 1.72404e-18 6.868144349999999e-16 2.832341 96 0.01426873 570 0.007836440495789474 1.612523 37 73 0.006269061 Mouse Phenotype abnormal liver sinusoid morphology 58 3.378909e-13 5.569956715344827e-11 2.183332 108 0.01605232 573 0.007896938818848167 1.590732 39 78 0.00660793 Mouse Phenotype absent hypoglossal canal 92 6.404845e-11 6.656165548369565e-9 7.222248 19 0.002824019 752 0.022303867743351066 2.783781 7 8 0.001186039 Mouse Phenotype enlarged liver sinusoidal spaces 99 1.13979e-10 1.1007608272727272e-8 2.4427 67 0.009958383 436 0.0019812056403440367 1.939917 25 41 0.004235852 Mouse Phenotype subcutaneous edema 100 1.284142e-10 1.2277681662e-8 2.995023 47 0.006985731 424 0.0017238981344575473 2.120976 20 30 0.003388682 Mouse Phenotype increased susceptibility to endotoxin shock 108 3.517012e-10 3.113532567777778e-8 2.262973 74 0.01099881 792 0.027730992397727274 1.525359 35 73 0.005930193 Mouse Phenotype abnormal third pharyngeal arch artery morphology 115 7.226458e-10 6.008014342434783e-8 2.639559 53 0.007877527 884 0.041581156730769224 1.969478 13 21 0.002202643 Mouse Phenotype hemopericardium 125 1.402846e-9 1.07300884848e-7 2.052545 86 0.0127824 714 0.019515299903361347 1.617694 30 59 0.005083023 Mouse Phenotype abnormal third pharyngeal arch morphology 139 5.680148e-9 3.9070428077697844e-7 2.32795 60 0.008917955 903 0.045245934292358805 1.817979 16 28 0.002710945 Mouse Phenotype abnormal peritoneum morphology 142 6.587603e-9 4.4354980480985916e-7 3.997568 26 0.003864447 591 0.009967400739593908 2.827968 8 9 0.001355473 Mouse Phenotype abnormal thymus corticomedullary boundary morphology 149 9.203925e-9 5.905954827181208e-7 2.606682 47 0.006985731 586 0.009421800976791808 1.949929 19 31 0.003219248 Mouse Phenotype absent ductus venosus valve 175 7.513807e-8 0.0000041051147844 2.646669 40 0.005945303 430 0.00183614624727907 2.313792 16 22 0.002710945 Mouse Phenotype increased fibroblast apoptosis 191 1.463638e-7 0.0000073266193287958104 2.275447 51 0.007580262 637 0.013385694184615384 1.723293 26 48 0.004405286 Mouse Phenotype absent sternum 192 1.586112e-7 0.0000078983421 2.360939 47 0.006985731 777 0.027376440745173744 2.545171 8 10 0.001355473 Mouse Phenotype increased hamartoma incidence 195 1.693549e-7 0.00000830360102 3.590778 24 0.003567182 802 0.02901627595511222 2.386098 9 12 0.001524907 Mouse Phenotype heterochrony 200 2.181826e-7 0.000010430219193 2.892782 32 0.004756243 927 0.04987787018122978 2.058594 11 17 0.001863775 Mouse Phenotype increased renal carcinoma incidence 220 4.178e-7 0.000018157208181818178 5.192061 15 0.002229489 777 0.027376440745173744 2.545171 8 10 0.001355473 Mouse Phenotype increased embryonic neuroepithelium apoptosis 237 8.925852e-7 0.00003600846876455696 2.612939 34 0.005053508 391 0.0008868167392327366 2.290654 18 25 0.003049814 Mouse Phenotype abnormal intestine placement 241 0.000001036113 0.00004110488129875519 4.274814 17 0.002526754 777 0.027376440745173744 2.545171 8 10 0.001355473