# 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 PERK-mediated unfolded protein response 15 5.808597e-31 5.0956885282e-28 12.29297 42 0.006797216 484 0.03569639754958678 3.768968 5 5 0.001003613 GO Biological Process negative regulation of endoplasmic reticulum unfolded protein response 17 2.002634e-30 1.5501565180000001e-27 10.61039 45 0.007282732 542 0.04764956447232472 2.93142 7 9 0.001405058 GO Biological Process liver regeneration 23 4.256045e-28 2.4350128763043477e-25 4.571605 81 0.01310892 497 0.03868886327364185 1.938327 18 35 0.003613007 GO Biological Process regulation of receptor catabolic process 27 9.366591e-27 4.5649989247777775e-24 8.092244 47 0.007606409 542 0.04764956447232472 2.93142 7 9 0.001405058 GO Biological Process negative regulation of intrinsic apoptotic signaling pathway 41 5.978457e-23 1.9187930649512196e-20 2.896017 117 0.0189351 286 0.005047083838461539 1.684007 42 94 0.008430349 GO Biological Process response to endoplasmic reticulum stress 44 1.139094e-22 3.406667715e-20 2.068734 221 0.03576631 229 0.001467947360655022 1.45198 94 244 0.01886792 GO Biological Process regulation of endoplasmic reticulum unfolded protein response 72 2.953061e-19 5.397129124861111e-17 4.086341 61 0.009872148 290 0.005145790649310345 2.458023 15 23 0.003010839 GO Biological Process vitamin transmembrane transport 104 1.48519e-16 1.8791937701923075e-14 8.069881 28 0.004531478 397 0.018794300317380355 3.297847 7 8 0.001405058 GO Biological Process intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress 136 1.687232e-14 1.6325210211764707e-12 3.35512 57 0.009224794 509 0.041920515133595286 2.010116 16 30 0.003211562 GO Biological Process animal organ regeneration 147 3.933714e-14 3.521343028979591e-12 2.196618 115 0.01861143 433 0.02562976606581986 1.628567 35 81 0.007025291 GO Biological Process negative regulation of cyclin-dependent protein serine/threonine kinase activity 189 5.098181e-12 3.549574803121693e-10 3.598462 42 0.006797216 454 0.02877440270352423 2.198565 14 24 0.002810116 GO Biological Process cellular senescence 199 1.181088e-11 7.810018588944724e-10 2.778008 59 0.009548471 474 0.034286662871308014 2.002264 17 32 0.003412284 GO Biological Process negative regulation of cyclin-dependent protein kinase activity 202 1.360791e-11 8.864677608415842e-10 3.365482 44 0.007120893 317 0.007579467769085173 2.319365 16 26 0.003211562 GO Biological Process cellular response to epidermal growth factor stimulus 210 2.067262e-11 1.2953857456190475e-9 2.525624 68 0.01100502 514 0.04288989161478599 1.884484 19 38 0.003813729 GO Biological Process negative regulation of T cell proliferation 222 5.32513e-11 3.156458813963964e-9 2.333082 76 0.01229972 388 0.01816800048195876 1.814688 26 54 0.005218788 GO Biological Process regulation of mitochondrial membrane potential 275 6.492506e-10 3.106723143781818e-8 2.35507 66 0.01068134 231 0.0014879650332467534 1.913476 33 65 0.006623846 GO Biological Process protection from non-homologous end joining at telomere 303 2.150745e-9 9.340479688118812e-8 12.79376 11 0.001780223 536 0.046229162774253735 3.230544 6 7 0.001204336 GO Biological Process actin filament bundle organization 360 1.286308e-8 4.701813047777778e-7 2.161479 67 0.01084318 482 0.03544988188589212 1.773632 24 51 0.004817342 GO Biological Process regulation of mitochondrial membrane permeability 395 3.84859e-8 0.000001282116349620253 2.059646 70 0.01132869 273 0.003395380618901099 1.80704 35 73 0.007025291 GO Biological Process negative regulation of pri-miRNA transcription from RNA polymerase II promoter 409 5.700853e-8 0.0000018341693062836186 2.90092 35 0.005664347 325 0.008378853562153846 3.083701 9 11 0.001806503 GO Molecular Function acid-thiol ligase activity 112 0.000006538955 0.0002464952500892857 2.279796 37 0.005988024 36 0.004373276605555556 2.464325 17 26 0.003412284 GO Molecular Function insulin-like growth factor I binding 129 0.00001853288 0.0006065567392248062 2.782116 23 0.003722285 63 0.0423284986984127 2.826726 9 12 0.001806503 Human Phenotype Hemolytic anemia 6 2.643887e-14 2.940442991833333e-11 2.861608 71 0.01149053 34 0.0066368598170588235 1.857942 35 71 0.007025291 Human Phenotype Bronchomalacia 17 2.069127e-11 8.121932041764708e-9 3.436867 42 0.006797216 74 0.019427636936486487 2.899206 10 13 0.002007226 Mouse Phenotype Single KO increased circulating insulin-like growth factor I level 29 1.360485e-20 4.295848670689655e-18 7.929984 36 0.005826185 386 0.044670811349740935 3.230544 6 7 0.001204336 Mouse Phenotype Single KO cortical renal glomerulopathies 83 1.067021e-15 1.1771941321686746e-13 2.016638 158 0.02557048 280 0.02182011391892857 1.490711 53 134 0.0106383 Mouse Phenotype Single KO abnormal rostral-caudal body axis extension 112 2.34474e-14 1.9170343017857145e-12 4.013417 45 0.007282732 360 0.03988425463611111 2.609286 9 13 0.001806503 Mouse Phenotype Single KO abnormal insulin-like growth factor I level 279 3.887581e-9 1.2759347389605735e-7 2.044479 82 0.01327076 224 0.011588858011160715 1.850221 27 55 0.00541951 Mouse Phenotype Single KO abnormal circulating insulin-like growth factor I level 306 1.187889e-8 3.5547384225490197e-7 2.0314 78 0.0126234 315 0.02890562864349206 1.777815 25 53 0.005018065 Mouse Phenotype Single KO abnormal hypoglossal nerve topology 346 5.565738e-8 0.0000014729902562427746 3.479345 27 0.004369639 411 0.04676934408029197 2.303258 11 18 0.002207949 Mouse Phenotype Single KO abnormal tail position or orientation 422 5.052346e-7 0.000010963111924644549 3.482656 23 0.003722285 386 0.044670811349740935 3.230544 6 7 0.001204336 Mouse Phenotype Single KO absent incisors 567 0.00001167291 0.00018851646714285715 2.003722 47 0.007606409 124 0.0016301343092741936 2.69212 15 21 0.003010839 Mouse Phenotype Single KO abnormal kidney inner medulla morphology 721 0.00009698122 0.0012317018467961165 2.548915 22 0.003560447 386 0.044670811349740935 3.230544 6 7 0.001204336 Mouse Phenotype Single KO increased liver adenoma incidence 728 0.0001033572 0.001300057528021978 2.537289 22 0.003560447 236 0.013474281054661016 2.449829 13 20 0.002609394 Mouse Phenotype Single KO increased hepatocyte proliferation 755 0.000160603 0.001947869762913907 2.588688 20 0.00323677 156 0.0038377632685897434 3.140807 10 12 0.002007226 Mouse Phenotype Single KO increased erythroblast number 792 0.0002343365 0.002709367841540404 2.100726 29 0.004693316 411 0.04676934408029197 2.303258 11 18 0.002207949 Mouse Phenotype Single KO absent Langerhans cell 889 0.000570263 0.005873901339707536 3.378051 11 0.001780223 386 0.044670811349740935 3.230544 6 7 0.001204336 Mouse Phenotype extramedullary hematopoiesis 8 6.125723e-31 7.321004700375001e-28 2.382435 226 0.0365755 529 0.02323171180718336 1.399903 65 175 0.01304697 Mouse Phenotype decreased trabecular bone thickness 46 4.970476e-21 1.0331026312173914e-18 2.594838 128 0.02071533 705 0.04921716648085106 1.615272 27 63 0.00541951 Mouse Phenotype decreased susceptibility to diet-induced obesity 93 3.21734e-17 3.3076330903225805e-15 2.132715 153 0.02476129 407 0.010413982148402948 1.525535 51 126 0.01023685 Mouse Phenotype abnormal respiratory quotient 94 3.453012e-17 3.512154014042553e-15 2.090357 160 0.02589416 611 0.0324532731603928 1.423247 54 143 0.01083902 Mouse Phenotype abnormal cardiac jelly morphology 259 1.61032e-10 5.9445056061776065e-9 3.156059 43 0.006959055 591 0.030463077010152287 3.230544 6 7 0.001204336 Mouse Phenotype decreased white fat cell size 310 1.56134e-9 4.8154747548387095e-8 2.169874 75 0.01213789 584 0.02965538971746575 1.739524 24 52 0.004817342 Mouse Phenotype absent heart 312 1.917486e-9 5.875988348076923e-8 3.865849 29 0.004693316 532 0.023572861161654135 2.512646 10 15 0.002007226 Mouse Phenotype absent somites 329 3.695461e-9 1.0739301708510637e-7 2.266497 65 0.0105195 566 0.028657965720848055 1.769108 23 49 0.00461662 Mouse Phenotype increased mammary adenocarcinoma incidence 395 2.635896e-8 6.380202950886075e-7 2.044998 73 0.01181421 549 0.02562607487978142 1.719179 26 57 0.005218788 Mouse Phenotype athymia 410 4.866067e-8 0.0000011347430874878048 2.550093 44 0.007120893 661 0.04054961851588502 2.029444 14 26 0.002810116 Mouse Phenotype abnormal hypoglossal nerve topology 416 5.565738e-8 0.0000012791831975480768 3.479345 27 0.004369639 614 0.032687735408794785 2.303258 11 18 0.002207949 Mouse Phenotype conotruncal ridge hypoplasia 432 7.774767e-8 0.000001720707113125 2.642708 40 0.006473539 582 0.029720844907216496 2.741068 8 11 0.001605781 Mouse Phenotype increased inguinal fat pad weight 497 4.828068e-7 0.000009287959385915493 2.456195 40 0.006473539 671 0.04147175655290611 2.153696 12 21 0.002408671 Mouse Phenotype abnormal rostral-caudal body axis extension 500 4.943179e-7 0.0000094523468838 2.221308 49 0.007930086 525 0.023285241840000002 2.227118 13 22 0.002609394 Mouse Phenotype abnormal tail position or orientation 503 5.052346e-7 0.000009603475170178926 3.482656 23 0.003722285 591 0.030463077010152287 3.230544 6 7 0.001204336 Mouse Phenotype abnormal thymus development 563 0.000001544895 0.000026235774591474246 2.112218 50 0.008091924 688 0.046425130909883726 1.949466 15 29 0.003010839 Mouse Phenotype abnormal memory T cell physiology 628 0.000006277383 0.00009557015742515925 2.828592 25 0.004045962 481 0.01719561950644491 2.380401 12 19 0.002408671 Mouse Phenotype echinocytosis 629 0.000006378891 0.00009696117146422893 4.137389 15 0.002427577 599 0.03132649678797996 2.93142 7 9 0.001405058 Mouse Phenotype increased liver adenoma incidence 664 0.00001165465 0.00016781642868975903 2.553259 28 0.004531478 440 0.012928190807045454 2.153696 16 28 0.003211562 Mouse Phenotype bowed fibula 741 0.00003020007 0.00038966649024291494 2.262744 32 0.005178832 599 0.03132649678797996 2.93142 7 9 0.001405058