# 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 autophagy 90 8.596477e-11 1.256900453811111e-8 2.059142 97 0.03421517 382 0.008588159344240837 1.503949 67 248 0.01986362 GO Biological Process regulation of intrinsic apoptotic signaling pathway 105 6.481529e-10 8.122899058190476e-8 2.312419 68 0.02398589 532 0.0419352595037594 1.544353 43 155 0.0127483 GO Biological Process mitotic DNA integrity checkpoint 132 1.50555e-8 0.0000015008736704545453 2.421516 52 0.01834215 538 0.04212658177137547 1.664854 32 107 0.009487103 GO Biological Process negative regulation of extrinsic apoptotic signaling pathway 135 1.976945e-8 0.000001927008833703704 2.11559 68 0.02398589 432 0.017821483477314815 1.763756 32 101 0.009487103 GO Biological Process mesoderm formation 156 1.20673e-7 0.000010179076967948718 2.105569 61 0.02151675 161 0.000007445602494782608 2.575709 31 67 0.009190631 GO Biological Process platelet-derived growth factor receptor signaling pathway 172 2.6703e-7 0.000020429347499999998 2.707656 35 0.01234568 466 0.026404679970815446 2.361696 14 33 0.004150608 GO Biological Process mesoderm morphogenesis 175 3.001442e-7 0.000022569128730285712 2.0343 62 0.02186949 147 0.000004736898045034013 2.58173 32 69 0.009487103 GO Biological Process negative regulation of cell cycle G1/S phase transition 180 3.788262e-7 0.00002769429981 2.2161 50 0.01763668 508 0.03292293727952756 1.708638 31 101 0.009190631 GO Biological Process beta-catenin-TCF complex assembly 200 0.000001248041 0.000082114857595 2.567289 34 0.01199295 445 0.02165978792696629 2.200849 17 43 0.005040024 GO Biological Process regulation of p38MAPK cascade 285 0.00001326363 0.0006124073935789474 2.201176 37 0.01305115 529 0.04000569827221172 2.334487 13 31 0.003854136 GO Biological Process entry of bacterium into host cell 291 0.00001602308 0.0007245625763573885 4.329752 13 0.004585538 560 0.04786938723214286 3.247332 7 12 0.002075304 GO Biological Process forebrain neuroblast division 397 0.0001253879 0.0041561193352644835 3.522709 13 0.004585538 443 0.019953870946952598 4.175141 6 8 0.001778832 GO Biological Process regulation of pri-miRNA transcription from RNA polymerase II promoter 408 0.0001488753 0.0048015933154411765 2.312176 25 0.008818342 448 0.022188033163616068 2.495486 13 29 0.003854136 GO Biological Process regulation of protein autophosphorylation 420 0.0001798195 0.005633916191666666 2.019979 33 0.01164021 408 0.012219392570833333 2.308208 17 41 0.005040024 GO Biological Process mesodermal cell differentiation 426 0.0001875364 0.005792937764319249 2.195932 27 0.00952381 284 0.0017991452778521127 2.997537 14 26 0.004150608 GO Biological Process positive regulation of cardiac muscle cell proliferation 427 0.0001903862 0.005867194392974238 2.125085 29 0.01022928 195 0.00004877056062051282 3.630557 15 23 0.00444708 GO Biological Process negative regulation of hydrogen peroxide-induced cell death 484 0.0003345042 0.009094505718595042 2.769847 16 0.005643739 213 0.00017244838610328637 3.929544 12 17 0.003557664 GO Biological Process cranial nerve morphogenesis 492 0.0003555348 0.009509110636585365 2.178358 25 0.008818342 157 0.000006311058076305733 3.578692 18 28 0.005336496 GO Biological Process regulation of hydrogen peroxide-induced cell death 582 0.0007158121 0.016184486982646046 2.351288 19 0.00670194 229 0.000324893354021834 3.38852 14 23 0.004150608 GO Biological Process negative regulation of peptidyl-threonine phosphorylation 617 0.0008871483 0.01892055831393841 2.442369 17 0.005996473 565 0.048345746775221236 2.968989 8 15 0.002371776 GO Cellular Component nuclear matrix 35 1.795041e-7 0.000008862373851428572 2.02652 65 0.02292769 49 0.03606455902040816 1.712878 32 104 0.009487103 GO Molecular Function RNA polymerase II activating transcription factor binding 77 0.00005348337 0.0029325556901298702 2.131759 34 0.01199295 62 0.012489438683870969 2.426578 17 39 0.005040024 GO Molecular Function RNA polymerase binding 98 0.0002085925 0.008986505459183674 2.218836 26 0.009171076 72 0.038326207725000005 2.115405 19 50 0.005632968 Human Phenotype Abnormal localization of kidney 36 0.00007666563 0.014210826360833333 2.146879 32 0.01128748 5 0.027843452842 2.487318 21 47 0.006225912 Human Phenotype Ectopic kidney 37 0.00007998605 0.014425592206756757 2.518353 23 0.008112875 26 0.030374110069230766 2.894764 13 25 0.003854136 Mouse Phenotype Single KO abnormal truncus arteriosus septation 20 1.563647e-8 0.0000071591577895 2.031435 76 0.02680776 185 0.0016957947294594592 2.096608 29 77 0.008597688 Mouse Phenotype Single KO abnormal facial motor nucleus morphology 26 3.959393e-8 0.000013944677577307693 4.376059 21 0.007407407 411 0.02560107821654501 3.18106 8 14 0.002371776 Mouse Phenotype Single KO increased mean corpuscular volume 51 5.13511e-7 0.00009220039660784314 2.00097 62 0.02186949 506 0.044272502478260874 1.572318 37 131 0.01096946 Mouse Phenotype Single KO abnormal embryonic hematopoiesis 58 7.87534e-7 0.00012433532479310343 2.290798 44 0.01552028 334 0.014497367883233532 2.1007 20 53 0.00592944 Mouse Phenotype Single KO muscular ventricular septal defect 63 9.867963e-7 0.00014343005903333334 2.123279 51 0.01798942 242 0.005241228415289256 2.077184 25 67 0.0074118 Mouse Phenotype Single KO abnormal interventricular septum muscular part morphology 64 9.949152e-7 0.00014235060135 2.122658 51 0.01798942 256 0.00651137100625 2.046638 25 68 0.0074118 Mouse Phenotype Single KO abnormal cell adhesion 68 0.000001285351 0.00017308763392647058 2.297589 42 0.01481481 297 0.010653469621548822 2.075776 22 59 0.006522384 Mouse Phenotype Single KO increased muscle cell glucose uptake 78 0.000002525707 0.00029651152562820514 2.980794 25 0.008818342 303 0.011131892909900989 2.915971 11 21 0.003261192 Mouse Phenotype Single KO abnormal liver development 82 0.000002746626 0.00030671773514634145 2.13744 46 0.01622575 405 0.024355110303703704 2.08757 18 48 0.005336496 Mouse Phenotype Single KO dilated brain ventricles 83 0.000002962891 0.0003268818420120482 2.074302 49 0.01728395 286 0.00982253140034965 1.988162 25 70 0.0074118 Mouse Phenotype Single KO abnormal brain vasculature morphology 90 0.000005198643 0.0005289330438999999 2.047404 48 0.01693122 222 0.0043101669018018015 2.108657 25 66 0.0074118 Mouse Phenotype Single KO abnormal thymus physiology 91 0.000005576784 0.0005611715504175825 2.024752 49 0.01728395 437 0.03179220296796339 1.80742 25 77 0.0074118 Mouse Phenotype Single KO decreased hepatocyte proliferation 116 0.00001573395 0.0012420325875 2.887819 22 0.007760141 339 0.015180509715339232 2.67209 12 25 0.003557664 Mouse Phenotype Single KO decreased mortality induced by ionizing radiation 156 0.00005248497 0.003080800450576923 6.331388 8 0.002821869 265 0.006852680687924528 4.77159 6 7 0.001778832 Mouse Phenotype Single KO decreased renal glomerulus number 157 0.00005306798 0.0030951814831847134 2.132638 34 0.01199295 190 0.0018496233938947366 2.879407 15 29 0.00444708 Mouse Phenotype Single KO abnormal basal metabolism 172 0.00007476903 0.003980581440174419 2.213422 30 0.01058201 428 0.02844076481074766 2.292234 14 34 0.004150608 Mouse Phenotype Single KO abnormal interventricular groove morphology 200 0.0001357979 0.006217506851500001 3.724569 12 0.004232804 526 0.04938504147338403 3.976325 5 7 0.00148236 Mouse Phenotype Single KO increased mean corpuscular hemoglobin concentration 237 0.0002371837 0.00916409764092827 2.240274 25 0.008818342 428 0.02844076481074766 2.292234 14 34 0.004150608 Mouse Phenotype Single KO uveal coloboma 239 0.0002409614 0.009232148702092052 3.11999 14 0.004938272 397 0.023169539614609574 3.542544 7 11 0.002075304 Mouse Phenotype Single KO abnormal interventricular septum thickness 250 0.0002790143 0.0102197357804 2.258146 24 0.008465608 274 0.007438695633941605 2.330311 18 43 0.005336496 Mouse Phenotype abnormal cell adhesion 64 2.394694e-8 0.0000035774483334375 2.319919 55 0.01940035 327 0.0021456208505504586 2.050946 28 76 0.008301216 Mouse Phenotype abnormal keratinocyte proliferation 69 2.999742e-8 0.000004156599023478261 2.496571 47 0.01657848 759 0.0366081368339921 1.778301 23 72 0.006818856 Mouse Phenotype abnormal liver development 71 3.790584e-8 0.000005104475158309859 2.248415 57 0.02010582 372 0.0036863129443548384 2.186979 22 56 0.006522384 Mouse Phenotype abnormal adipose tissue physiology 74 4.824534e-8 0.000006233428320810811 2.040218 70 0.02469136 708 0.029052705504237285 1.617718 34 117 0.01008005 Mouse Phenotype abnormal hepatobiliary system development 94 2.479248e-7 0.00002521711715744681 2.032834 63 0.02222222 522 0.011613486611494254 1.906457 25 73 0.0074118 Mouse Phenotype increased keratinocyte proliferation 100 3.373334e-7 0.000032252446374 2.828609 32 0.01128748 491 0.009468922312423626 2.158576 19 49 0.005632968 Mouse Phenotype abnormal facial motor nucleus morphology 105 3.865163e-7 0.00003519506994571429 3.800912 21 0.007407407 791 0.04232646238938053 2.783427 8 16 0.002371776 Mouse Phenotype abnormal interventricular septum muscular part morphology 118 0.000001116573 0.00009047080044915254 2.047786 55 0.01940035 287 0.0014041224635540069 2.106377 28 74 0.008301216 Mouse Phenotype muscular ventricular septal defect 123 0.000001823067 0.00014171011046341462 2.060095 52 0.01834215 358 0.0029942995583798885 2.067689 26 70 0.007708272 Mouse Phenotype increased squamous cell carcinoma incidence 130 0.0000028774 0.0002116217030769231 2.507823 33 0.01164021 612 0.017817485911764706 2.034043 19 52 0.005632968 Mouse Phenotype abnormal embryonic hematopoiesis 141 0.000004923306 0.0003338420472765957 2.088552 46 0.01622575 515 0.010972591609514564 2.007718 22 61 0.006522384 Mouse Phenotype spleen atrophy 146 0.00000534427 0.00034997647582191783 3.101455 22 0.007760141 563 0.014844318594138543 2.569317 12 26 0.003557664 Mouse Phenotype abnormal basal metabolism 163 0.000008169111 0.00047917098325766865 2.104979 43 0.01516755 541 0.01294486057763401 2.200849 17 43 0.005040024 Mouse Phenotype decreased DN3 thymocyte number 166 0.000009103019 0.0005243009919216867 4.954899 12 0.004232804 663 0.024627391081447965 3.711236 6 9 0.001778832 Mouse Phenotype abnormal epidermis stratum basale morphology 183 0.00001328551 0.0006941134486885247 2.103375 41 0.01446208 574 0.01584588170801394 1.981423 21 59 0.006225912 Mouse Phenotype small basisphenoid bone 184 0.00001331266 0.0006917518601086955 2.920332 22 0.007760141 403 0.004629728012158809 3.27462 10 17 0.00296472 Mouse Phenotype abnormal kidney cell proliferation 217 0.00002682932 0.0011820973664516128 2.080413 39 0.01375661 631 0.020242227974643423 2.103034 17 45 0.005040024 Mouse Phenotype thin skin 246 0.00004198618 0.0016318287275609755 2.036557 39 0.01375661 438 0.006376822459589042 2.18308 20 51 0.00592944 Mouse Phenotype increased kidney cell proliferation 254 0.00004770357 0.0017956450109055117 2.491274 25 0.008818342 738 0.03581418456097561 2.303526 12 29 0.003557664 Mouse Phenotype decreased mortality induced by ionizing radiation 312 0.0001149122 0.003521395975 5.645287 8 0.002821869 530 0.012118125529245282 4.175141 6 8 0.001778832