# 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 intrinsic apoptotic signaling pathway 33 7.704455e-35 3.0722097983333327e-32 3.172622 159 0.02074364 475 0.00942615738168421 1.520738 48 94 0.007613006 GO Biological Process cellular response to insulin stimulus 34 1.945122e-34 7.528194234705883e-32 2.410456 248 0.03235486 280 0.0005802343558928572 1.509179 75 148 0.01189532 GO Biological Process response to endoplasmic reticulum stress 40 2.090763e-33 6.87808757925e-31 2.195894 291 0.03796477 434 0.005724413626267281 1.330386 109 244 0.01728787 GO Biological Process regulation of intrinsic apoptotic signaling pathway 46 6.277044e-32 1.7956439564347827e-29 2.565835 204 0.02661448 470 0.008909589328085108 1.402595 73 155 0.01157811 GO Biological Process liver regeneration 82 4.679998e-27 7.5102553270731705e-25 4.049297 89 0.01161122 386 0.0034356478556994818 1.957045 23 35 0.003647898 GO Biological Process response to insulin 84 6.601554e-27 1.0341648700714285e-24 2.019809 282 0.03679061 353 0.0022140837607648725 1.388831 97 208 0.01538462 GO Biological Process platelet-derived growth factor receptor signaling pathway 118 7.987492e-23 8.907407392203391e-21 3.061612 107 0.01395956 599 0.028922559332220366 1.804917 20 33 0.003172086 GO Biological Process insulin receptor signaling pathway 171 4.061614e-18 3.1255426097076024e-16 2.2655 142 0.01852577 410 0.00449183748804878 1.598012 44 82 0.006978588 GO Biological Process response to epidermal growth factor 181 1.064611e-17 7.739898424861878e-16 2.718981 98 0.01278539 608 0.03101201874506579 1.701779 24 42 0.003806503 GO Biological Process mammary gland epithelial cell differentiation 213 1.939688e-16 1.1983264972769953e-14 3.172051 71 0.009262883 661 0.03992609815582451 2.102197 12 17 0.001903251 GO Biological Process triglyceride homeostasis 241 5.575749e-15 3.044451497551867e-13 3.704822 52 0.006784083 441 0.006218474927664399 1.954386 21 32 0.00333069 GO Biological Process negative regulation of ERK1 and ERK2 cascade 288 9.761006e-14 4.459898540069445e-12 2.097973 124 0.01617743 550 0.020521826559454545 1.615248 32 59 0.005075337 GO Biological Process animal organ regeneration 294 1.449271e-13 6.486720098299321e-12 2.032529 132 0.01722114 378 0.003334825493068783 1.61774 44 81 0.006978588 GO Biological Process epithelial cell apoptotic process 341 3.423492e-12 1.3211064876246335e-10 2.869928 59 0.007697326 628 0.03510068957802548 1.875108 17 27 0.002696273 GO Biological Process regulation of mitochondrial membrane permeability 399 4.171469e-11 1.3757483852380951e-9 2.15845 91 0.01187215 482 0.010077825610165975 1.591046 39 73 0.006185567 GO Biological Process regulation of membrane permeability 412 6.379623e-11 2.037608229538835e-9 2.065079 99 0.01291585 378 0.003334825493068783 1.61774 44 81 0.006978588 GO Biological Process high-density lipoprotein particle remodeling 474 6.782562e-10 1.8829479611392405e-8 4.32131 27 0.003522505 661 0.03992609815582451 2.102197 12 17 0.001903251 GO Biological Process regulation of extracellular matrix organization 491 1.09369e-9 2.931133749490835e-8 2.307969 67 0.008741031 198 0.00004776942298030303 2.305636 24 31 0.003806503 GO Biological Process regulation of cholesterol metabolic process 514 2.499083e-9 6.397944201750973e-8 2.32648 63 0.008219178 499 0.012516521714028055 1.685724 30 53 0.004758128 GO Biological Process positive regulation of extracellular matrix organization 580 1.587838e-8 3.6024759037931036e-7 2.691866 43 0.005609915 417 0.0049646477160671465 2.31631 14 18 0.00222046 GO Cellular Component endoplasmic reticulum subcompartment 129 0.000001358728 0.00001820063553488372 2.701268 31 0.004044357 55 0.029918811927272727 2.030531 15 22 0.002379064 GO Cellular Component Arp2/3 protein complex 265 0.001045457 0.006817168664150944 2.22267 20 0.002609263 44 0.008949806836363636 2.519941 11 13 0.001744647 GO Molecular Function cadherin binding 5 2.686442e-38 2.2684316247999997e-35 2.003785 414 0.05401174 17 0.00002664501716470588 1.430278 146 304 0.02315623 GO Molecular Function BH domain binding 17 1.70511e-18 4.234690835294118e-16 7.614823 33 0.004305284 86 0.028433446834883722 2.481761 10 12 0.001586043 GO Molecular Function interleukin-1 receptor activity 195 0.00001590667 0.00034439979866666666 3.314323 18 0.002348337 84 0.024137370021428572 2.978113 7 7 0.00111023 Human Phenotype Hepatic steatosis 44 6.157182e-9 9.337926246818182e-7 2.149618 71 0.009262883 44 0.04603356917272727 1.659932 34 61 0.005392546 Mouse Phenotype Single KO abnormal iron level 22 4.132456e-31 1.7200408905454547e-28 2.750871 176 0.02296151 264 0.014841634382954544 1.451517 58 119 0.009199048 Mouse Phenotype Single KO abnormal iron homeostasis 23 5.722267e-31 2.2782086486521736e-28 2.68042 183 0.02387476 218 0.007080998888073395 1.47695 61 123 0.009674861 Mouse Phenotype Single KO decreased circulating free fatty acid level 32 1.925838e-27 5.5109058018749995e-25 2.711197 158 0.02061318 402 0.048953276442786076 1.441022 45 93 0.007137193 Mouse Phenotype Single KO decreased percent body fat/body weight 42 1.551529e-25 3.3827026316666666e-23 2.603803 157 0.02048271 372 0.040152804994623655 1.50891 38 75 0.006026963 Mouse Phenotype Single KO abnormal circulating free fatty acids level 43 1.873408e-25 3.9894876874418604e-23 2.097218 243 0.03170254 373 0.04027417992225201 1.335638 74 165 0.01173672 Mouse Phenotype Single KO abnormal branching of the mammary ductal tree 56 8.841566e-22 1.4457539261071429e-19 2.829427 115 0.01500326 221 0.007452728992760182 1.880913 24 38 0.003806503 Mouse Phenotype Single KO decreased white adipose tissue amount 84 8.38498e-19 9.140626411904762e-17 2.271869 147 0.01917808 201 0.005187864182089553 1.659234 39 70 0.006185567 Mouse Phenotype Single KO abnormal adipose tissue physiology 116 2.20907e-16 1.743832240517241e-14 2.04762 160 0.0208741 291 0.019847026549828176 1.489056 48 96 0.007613006 Mouse Phenotype Single KO abnormal mammary gland duct morphology 132 3.46918e-15 2.406612216666667e-13 2.196034 125 0.01630789 348 0.032317079117816096 1.629533 29 53 0.004599524 Mouse Phenotype Single KO abnormal mammary gland epithelium morphology 161 2.022734e-13 1.1504456669565217e-11 2.016558 133 0.0173516 332 0.02699122008825301 1.582122 34 64 0.005392546 Mouse Phenotype Single KO disorganized yolk sac vascular plexus 266 4.919011e-10 1.6933602904887217e-8 2.700395 52 0.006784083 395 0.04665477590632911 2.037656 13 19 0.002061856 Mouse Phenotype Single KO decreased hepatocyte proliferation 314 1.143422e-8 3.334495303821656e-7 2.476044 51 0.00665362 267 0.015566629062546815 2.025117 17 25 0.002696273 Mouse Phenotype Single KO increased circulating glucagon level 390 2.396031e-7 0.000005625757914615385 2.494647 41 0.005348989 172 0.0027013474754069766 2.452563 14 17 0.00222046 Mouse Phenotype Single KO abnormal bone marrow morphology 394 2.693646e-7 0.000006260334117258882 2.009618 65 0.008480104 410 0.04955187712195122 1.662202 24 43 0.003806503 Mouse Phenotype Single KO abnormal spleen iron level 413 4.814903e-7 0.00001067556096150121 2.525472 38 0.004957599 366 0.03892140317486339 1.848484 18 29 0.002854877 Mouse Phenotype Single KO abnormal oxidative phosphorylation 549 0.00001389968 0.00023183856058287797 2.103969 41 0.005348989 370 0.039556408599999995 1.712415 23 40 0.003647898 Mouse Phenotype Single KO decreased spleen iron level 550 0.00001396524 0.00023250855032727274 2.578956 27 0.003522505 317 0.02455379355962145 2.233584 12 16 0.001903251 Mouse Phenotype Single KO abnormal mitochondrial ATP synthesis coupled electron transport 566 0.00001775107 0.00028718471376325093 2.149847 38 0.004957599 299 0.021501416948160535 1.839422 21 34 0.00333069 Mouse Phenotype Single KO abnormal primitive endoderm morphology 596 0.00002725598 0.0004187634376845638 2.061545 40 0.005218526 280 0.018941087711785716 2.481761 10 12 0.001586043 Mouse Phenotype Single KO abnormal collagen level 717 0.0001533104 0.0019579683860529986 2.528909 21 0.002739726 362 0.03672088537016575 2.436638 9 11 0.001427439 Mouse Phenotype extramedullary hematopoiesis 17 2.397123e-41 1.3481701766470587e-38 2.455933 289 0.03770385 398 0.007478590177386935 1.378441 81 175 0.01284695 Mouse Phenotype abnormal lipolysis 29 4.313381e-33 1.4220770945172414e-30 4.375273 101 0.01317678 653 0.045965569019908115 1.69028 21 37 0.00333069 Mouse Phenotype decreased circulating free fatty acid level 39 3.919805e-31 9.60955271923077e-29 2.556448 200 0.02609263 370 0.005575990704324325 1.476543 59 119 0.009357653 Mouse Phenotype abnormal iron level 45 6.598691e-29 1.402001881133333e-26 2.548898 186 0.02426614 521 0.019394093948176584 1.389786 63 135 0.00999207 Mouse Phenotype abnormal iron homeostasis 51 1.588341e-28 2.977672215882353e-26 2.479512 193 0.02517939 446 0.01244564373632287 1.403967 66 140 0.01046788 Mouse Phenotype decreased fatty acid level 57 1.257049e-27 2.1085342963157893e-25 2.257055 225 0.02935421 599 0.03381232486477462 1.336333 70 156 0.0111023 Mouse Phenotype abnormal free fatty acids level 58 3.150462e-27 5.1933736520689655e-25 2.007197 290 0.03783431 414 0.009531196931159419 1.334532 95 212 0.01506741 Mouse Phenotype abnormal circulating free fatty acids level 60 4.890017e-27 7.7922420895e-25 2.006836 288 0.03757339 346 0.00454982844017341 1.365574 94 205 0.0149088 Mouse Phenotype decreased white adipose tissue amount 84 1.475137e-22 1.6790220067857143e-20 2.242265 184 0.02400522 118 0.000019856665619491525 1.786868 54 90 0.008564631 Mouse Phenotype abnormal keratinocyte physiology 102 2.525345e-20 2.3671395632352942e-18 2.196594 172 0.02243966 605 0.034837455208264465 1.396814 53 113 0.008406027 Mouse Phenotype decreased sensitivity to induced cell death 118 6.506367e-19 5.2718114311016944e-17 2.293732 145 0.01891716 523 0.01985730122753346 1.473045 46 93 0.007295797 Mouse Phenotype decreased circulating leptin level 138 1.43105e-17 9.914687717391306e-16 2.009667 181 0.02361383 605 0.034837455208264465 1.396814 53 113 0.008406027 Mouse Phenotype increased pancreatic beta cell mass 180 3.013962e-15 1.600916149e-13 2.846739 77 0.01004566 503 0.01776127581888668 1.985408 16 24 0.002537669 Mouse Phenotype increased cerebral infarction size 336 1.912111e-10 5.440980140178571e-9 2.918792 48 0.006262231 629 0.04066755389666137 1.786868 18 30 0.002854877 Mouse Phenotype increased susceptibility to ischemic brain injury 395 3.115234e-9 7.540443613670885e-8 2.431161 57 0.007436399 514 0.0184644450151751 1.756323 23 39 0.003647898 Mouse Phenotype abnormal transitional stage T1 B cell morphology 463 3.707659e-8 7.656355874514038e-7 2.485876 47 0.006131768 567 0.028247021772486773 1.875108 17 27 0.002696273 Mouse Phenotype abnormal parotid gland morphology 549 6.111417e-7 0.000010643216381967213 5.418913 14 0.001826484 633 0.040991632023696684 2.605849 7 8 0.00111023 Mouse Phenotype conotruncal ridge hypoplasia 572 0.00000112146 0.00001874524311188811 2.290149 43 0.005609915 543 0.025560655602209943 2.436638 9 11 0.001427439 Mouse Phenotype abnormal cardiac neural crest cell morphology 613 0.000002636936 0.0000411284585579119 2.835779 27 0.003522505 344 0.004478516926744186 2.978113 8 8 0.001268834 Mouse Phenotype abnormal spleen iron level 661 0.000007240057 0.00010472342659152799 2.214791 39 0.005088063 615 0.03773168586341463 1.768254 19 32 0.003013481