# 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 mRNA transcription 105 1.276972e-19 1.600349956952381e-17 4.583951 55 0.00489716 1050 0.04594324487333333 1.6572 18 25 0.002206423 GO Biological Process heterochromatin organization 106 2.321989e-19 2.8825521934905657e-17 4.6844 53 0.004719081 1003 0.03858843294915254 1.947564 11 13 0.00134837 GO Biological Process adherens junction assembly 145 1.42182e-14 1.2903261641379311e-12 2.405087 99 0.008814887 1059 0.047099353856468365 1.55701 23 34 0.002819318 GO Biological Process purine ribonucleoside biosynthetic process 148 1.934455e-14 1.719965766554054e-12 2.108867 130 0.0115751 503 0.0006943038957852882 1.507989 57 87 0.006987007 GO Biological Process regulation of pri-miRNA transcription from RNA polymerase II promoter 170 1.424932e-13 1.1029811875294118e-11 2.31127 99 0.008814887 463 0.00046250474460043196 1.904828 24 29 0.002941898 GO Biological Process trachea cartilage development 225 1.357452e-11 7.938982608e-10 3.262688 46 0.004095806 850 0.019616461885882352 2.301667 8 8 0.0009806325 GO Biological Process positive regulation of pri-miRNA transcription from RNA polymerase II promoter 246 3.995427e-11 2.1372286135365854e-9 2.694094 59 0.005253317 626 0.003432155184504792 1.956417 17 20 0.002083844 GO Biological Process cellular response to epidermal growth factor stimulus 272 9.428652e-11 4.5614570466176465e-9 2.043429 100 0.008903927 887 0.024333334993235627 1.574825 26 38 0.003187056 GO Biological Process regulation of mammary gland epithelial cell proliferation 351 1.166512e-9 4.373256811396011e-8 2.395823 62 0.005520435 949 0.03251507089567966 1.870104 13 16 0.001593528 GO Biological Process AMP biosynthetic process 362 1.89882e-9 6.90236806077348e-8 3.57488 32 0.002849257 998 0.03847355373046093 2.301667 7 7 0.0008580534 GO Biological Process cytoplasmic microtubule organization 383 3.745448e-9 1.2868498755091385e-7 2.192641 70 0.006232749 1016 0.04083008453641732 1.515732 27 41 0.003309635 GO Biological Process placenta blood vessel development 405 6.207162e-9 2.0167912285925927e-7 2.112798 74 0.006588906 736 0.009104746070244566 1.707688 23 31 0.002819318 GO Biological Process parasympathetic nervous system development 406 6.370166e-9 2.064655526945813e-7 2.099464 75 0.006677945 427 0.00022709700502810304 2.173797 17 18 0.002083844 GO Biological Process histone H3 acetylation 417 8.463617e-9 2.670809019256595e-7 2.000979 83 0.007390259 941 0.03071311998405951 1.517008 29 44 0.003554793 GO Biological Process membrane raft assembly 423 9.079701e-9 2.824581216524823e-7 3.599789 29 0.002582139 1027 0.04294987407789679 2.0715 9 10 0.001103212 GO Biological Process cell-substrate junction assembly 427 9.76008e-9 3.007796082435597e-7 2.00376 82 0.00730122 1016 0.04083008453641732 1.515732 27 41 0.003309635 GO Biological Process histone H4-K5 acetylation 436 1.197201e-8 3.6132954034403666e-7 3.162116 34 0.003027335 781 0.01235108626184379 1.994778 13 15 0.001593528 GO Biological Process histone H4-K8 acetylation 436 1.197201e-8 3.6132954034403666e-7 3.162116 34 0.003027335 781 0.01235108626184379 1.994778 13 15 0.001593528 GO Biological Process positive regulation of transcription from RNA polymerase II promoter in response to stress 442 1.298781e-8 3.866664972624434e-7 2.578596 47 0.004184846 709 0.007323337994922427 1.822153 19 24 0.002329002 GO Biological Process preganglionic parasympathetic fiber development 509 5.671115e-8 0.0000014661336401768174 2.104213 65 0.005787552 516 0.0008913070136434109 2.157813 15 16 0.001838686 GO Cellular Component hemidesmosome 108 7.968763e-8 0.00000127500208 3.517693 26 0.002315021 124 0.04066230658064516 2.301667 7 7 0.0008580534 GO Cellular Component Cul4-RING E3 ubiquitin ligase complex 170 0.00001109817 0.00011280963388235292 2.083515 43 0.003828688 135 0.043425664 1.582396 22 32 0.002696739 GO Molecular Function cyclin-dependent protein serine/threonine kinase regulator activity 156 0.000005621433 0.00015213903926923077 2.047552 48 0.004273885 144 0.044332084819444444 1.666724 21 29 0.00257416 Human Phenotype Enlarged thorax 319 0.000005137562 0.00010747006653918495 2.091369 46 0.004095806 147 0.03303255749523809 1.801305 18 23 0.002206423 Mouse Phenotype Single KO vertebral transformation 9 2.856126e-20 2.9059495313333335e-17 2.170033 177 0.01575995 147 0.0000070718327442176874 1.626178 65 92 0.007967639 Mouse Phenotype Single KO abnormal sternebra number 16 5.43543e-18 3.110764531875e-15 5.78484 40 0.003561571 742 0.03629815054447439 1.947564 11 13 0.00134837 Mouse Phenotype Single KO abnormal facial nerve morphology 25 1.060105e-15 3.882952594e-13 2.412143 107 0.009527201 538 0.012017428938289961 1.72625 21 28 0.00257416 Mouse Phenotype Single KO thoracic vertebral transformation 40 9.35081e-14 2.14063417925e-11 2.456732 89 0.007924495 301 0.0010117249869767441 1.678299 35 48 0.004290267 Mouse Phenotype Single KO abnormal Mullerian duct morphology 88 4.966019e-11 5.167481361704546e-9 2.153058 91 0.008102573 556 0.012388979619424461 1.644048 25 35 0.003064477 Mouse Phenotype Single KO abnormal facial motor nucleus morphology 149 2.466763e-9 1.5159831403355704e-7 2.630077 50 0.004451963 636 0.021244628740566037 1.972857 12 14 0.001470949 Mouse Phenotype Single KO cervical vertebral transformation 198 2.994707e-8 0.0000013849763635858586 2.128518 66 0.005876592 499 0.009735733410420841 1.635395 27 38 0.003309635 Mouse Phenotype Single KO small basisphenoid bone 309 0.000001026113 0.000030408144792880255 2.06117 55 0.00489716 742 0.03629815054447439 1.947564 11 13 0.00134837 Mouse Phenotype Single KO increased anti-histone antibody level 472 0.00001128196 0.00021887480449152543 2.612043 27 0.00240406 771 0.039811476775616084 2.0715 9 10 0.001103212 Mouse Phenotype Single KO abnormal sclerotome morphology 488 0.00001521591 0.00028551657350409836 2.017858 45 0.004006767 528 0.010935207888825758 1.918056 15 18 0.001838686 Mouse Phenotype Single KO abnormal ceramide level 532 0.00002778569 0.0004782585776879699 2.129438 37 0.003294453 441 0.00669050702494331 1.938246 16 19 0.001961265 Mouse Phenotype Single KO absent metanephros 658 0.0001040456 0.001447941579331307 2.175497 30 0.002671178 621 0.018684364523349435 2.301667 8 8 0.0009806325 Mouse Phenotype sacral vertebral transformation 33 1.062168e-19 3.0773903781818185e-17 5.281509 48 0.004273885 792 0.006135397518939393 1.863254 17 21 0.002083844 Mouse Phenotype abnormal rib development 35 2.190366e-19 5.983454093142858e-17 2.931396 96 0.00854777 662 0.0023819642814199393 1.743687 25 33 0.003064477 Mouse Phenotype abnormal sternebra number 46 5.43543e-18 1.1297423093478263e-15 5.78484 40 0.003561571 1106 0.02542631247016275 1.947564 11 13 0.00134837 Mouse Phenotype thoracic vertebral transformation 48 6.852878e-18 1.365007636625e-15 2.566354 110 0.009794319 359 0.00009269562610027855 1.695965 42 57 0.005148321 Mouse Phenotype abnormal third pharyngeal arch artery morphology 49 7.946382e-18 1.550517516367347e-15 2.804471 94 0.008369691 1081 0.02120161921276596 1.753651 16 21 0.001961265 Mouse Phenotype abnormal third pharyngeal arch morphology 81 1.367619e-14 1.6142969455555555e-12 2.370774 102 0.009082005 844 0.007998370097630332 1.72625 21 28 0.00257416 Mouse Phenotype athymia 220 1.862288e-9 8.093334349090909e-8 2.232036 70 0.006232749 1401 0.048419347139186296 1.593462 18 26 0.002206423 Mouse Phenotype abnormal metanephros morphology 221 2.041498e-9 8.832019175565611e-8 2.001672 90 0.008013534 950 0.012445352415789474 1.704939 20 27 0.002451581 Mouse Phenotype tumor regression 239 3.672477e-9 1.4691444601255228e-7 5.318892 20 0.001780785 962 0.012593457003118503 2.301667 8 8 0.0009806325 Mouse Phenotype abnormal orbit size 251 7.540634e-9 2.872350664302789e-7 3.293587 33 0.002938296 1362 0.04716495352643171 2.301667 6 6 0.0007354744 Mouse Phenotype absent ureter 283 2.22532e-8 7.5181217385159e-7 2.045409 74 0.006588906 1401 0.048419347139186296 1.593462 18 26 0.002206423 Mouse Phenotype increased embryonic neuroepithelium apoptosis 289 2.430456e-8 8.040688517647059e-7 2.393984 52 0.004630042 909 0.010233348663036303 1.749267 19 25 0.002329002 Mouse Phenotype abnormal facial motor nucleus morphology 301 3.077496e-8 9.77539510166113e-7 2.375781 52 0.004630042 1067 0.021011977619493905 1.870104 13 16 0.001593528 Mouse Phenotype abnormal frontonasal suture morphology 311 4.264662e-8 0.0000013110750283601288 2.887031 36 0.003205414 1362 0.04716495352643171 2.301667 6 6 0.0007354744 Mouse Phenotype lethality during fetal growth through weaning, incomplete penetrance 315 4.7493e-8 0.0000014415256285714286 2.779934 38 0.003383492 945 0.012367118088888887 1.895491 14 17 0.001716107 Mouse Phenotype increased neural tube apoptosis 352 1.323741e-7 0.000003595536278693182 2.004892 69 0.006143709 772 0.005380157993782383 1.605814 30 43 0.003677372 Mouse Phenotype absent metanephros 389 2.847005e-7 0.000006997484525706941 2.511691 40 0.003561571 861 0.008321155948780488 2.109861 11 12 0.00134837 Mouse Phenotype absent ureteric bud 426 6.9855e-7 0.000015678020070422535 2.104499 54 0.00480812 742 0.004520422760377359 2.124616 12 13 0.001470949 Mouse Phenotype decreased classified tumor incidence 427 7.216346e-7 0.000016158192999063234 2.102158 54 0.00480812 844 0.007998370097630332 1.72625 21 28 0.00257416 Mouse Phenotype enlarged pituitary gland 446 0.000001054165 0.000022598366737668164 2.10804 52 0.004630042 1311 0.042279835935926775 1.918056 10 12 0.001225791