# 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 regulation of transcription from RNA polymerase II promoter in response to stress 17 7.560398e-42 5.8521927812941175e-39 3.634076 160 0.0250941 693 0.0349728432972583 1.44187 49 113 0.008677174 GO Biological Process regulation of DNA-templated transcription in response to stress 22 4.963007e-41 2.968554959681818e-38 3.413465 170 0.02666248 583 0.024940187243567752 1.452997 52 119 0.009208429 GO Biological Process regulation of hematopoietic progenitor cell differentiation 66 7.63485e-27 1.5222271386363637e-24 3.281541 115 0.01803639 693 0.0349728432972583 1.44187 49 113 0.008677174 GO Biological Process cellular response to decreased oxygen levels 99 5.372927e-23 7.141651150808081e-21 2.086639 220 0.03450439 235 0.0003643303212212766 1.505058 86 190 0.01522933 GO Biological Process cellular response to oxygen levels 106 3.061149e-22 3.8001565746226415e-20 2.022175 229 0.03591593 272 0.0005780279426838235 1.468867 91 206 0.01611475 GO Biological Process cellular response to hypoxia 117 3.437313e-21 3.865948868974359e-19 2.047377 211 0.03309285 286 0.00076872623486014 1.489948 82 183 0.01452098 GO Biological Process regulation of intrinsic apoptotic signaling pathway 140 1.682381e-19 1.5813179699285713e-17 2.283176 151 0.02368256 407 0.005921090889926289 1.458766 68 155 0.01204179 GO Biological Process regulation of necroptotic process 148 3.824758e-19 3.40067503527027e-17 7.399357 35 0.005489335 612 0.028045849805555554 2.161333 13 20 0.002302107 GO Biological Process regulation of cellular amino acid metabolic process 149 4.198759e-19 3.7081523275838926e-17 3.893121 64 0.01003764 563 0.021906902192184725 1.662564 30 60 0.005312555 GO Biological Process regulation of stem cell differentiation 154 9.047445e-19 7.730865503571429e-17 2.150575 165 0.02587829 579 0.02459087556822107 1.414948 60 141 0.01062511 GO Biological Process regulation of necrotic cell death 167 1.037103e-17 8.171999028143714e-16 5.831696 39 0.006116688 645 0.03144692936589147 1.970446 16 27 0.002833363 GO Biological Process acute inflammatory response 168 1.12886e-17 8.842064726190476e-16 2.782757 94 0.01474279 629 0.02975712243243243 1.590279 33 69 0.005843811 GO Biological Process cellular response to epidermal growth factor stimulus 170 1.740469e-17 1.3472253865294118e-15 2.987499 83 0.01301757 302 0.001079401397549669 2.100081 24 38 0.004250044 GO Biological Process response to epidermal growth factor 193 1.392861e-16 9.4967139373057e-15 2.835064 85 0.01333124 292 0.0008635278294520548 2.058413 26 42 0.004604215 GO Biological Process macroautophagy 236 6.694029e-15 3.7324884580932206e-13 2.150594 128 0.02007528 414 0.006480028766908212 1.463056 66 150 0.01168762 GO Biological Process multi-organism metabolic process 253 1.483979e-14 7.718450458893281e-13 2.248773 113 0.01772271 713 0.03796565286115007 1.379815 61 147 0.0108022 GO Biological Process mitochondrial membrane organization 266 4.601138e-14 2.2761795090977446e-12 2.119971 124 0.01944793 495 0.013851663176161617 1.474855 55 124 0.009739685 GO Biological Process regulation of cytokine biosynthetic process 273 6.1926e-14 2.984923934065934e-12 2.125378 122 0.01913425 656 0.031895911541158534 1.48938 43 96 0.007614663 GO Biological Process negative regulation of protein ubiquitination 276 7.483262e-14 3.567834951376812e-12 2.142295 119 0.01866374 576 0.02358341815798611 1.421613 59 138 0.01044803 GO Biological Process regulation of mitochondrial membrane permeability 321 3.603345e-12 1.4771469425233644e-10 2.366696 83 0.01301757 570 0.022596216944035085 1.59424 35 73 0.006197981 GO Cellular Component methyltransferase complex 67 1.780539e-11 4.592196107462686e-10 2.276698 84 0.0131744 91 0.03343184386813187 1.498135 41 91 0.007260492 GO Cellular Component catalytic step 2 spliceosome 78 1.843449e-10 4.083948553846154e-9 2.227682 79 0.01239021 87 0.03158206013793104 1.48938 43 96 0.007614663 GO Cellular Component histone methyltransferase complex 94 1.94595e-9 3.5772357446808506e-8 2.226695 70 0.01097867 85 0.028916352 1.590279 33 69 0.005843811 GO Cellular Component mitochondrial nucleoid 131 4.635488e-7 0.000006114597911450381 2.605597 36 0.005646173 75 0.016793975808000003 1.820904 23 42 0.004072959 GO Cellular Component cytosolic proteasome complex 184 0.00002083922 0.00019570745739130434 3.95514 14 0.002195734 90 0.033009791999999996 2.493846 9 12 0.001593767 GO Cellular Component organelle membrane contact site 280 0.001330397 0.008210450057142857 2.049292 23 0.003607277 88 0.031317368727272726 2.286026 11 16 0.001947937 GO Cellular Component Lewy body 304 0.002676989 0.015216569052631579 2.94483 10 0.001568381 83 0.027244688963855422 2.909487 7 8 0.001239596 GO Molecular Function endoribonuclease activity 53 3.716693e-9 2.9607316690566036e-7 2.565066 51 0.007998745 72 0.011851746252777776 1.781319 30 56 0.005312555 GO Molecular Function ribonuclease activity 64 3.593006e-8 0.0000023702611456249997 2.028696 73 0.01144918 82 0.02155356743902439 1.545009 46 99 0.008145918 GO Molecular Function monocarboxylic acid binding 75 1.552656e-7 0.000008740418175999998 2.211144 54 0.00846926 84 0.022663711078571427 1.719894 30 58 0.005312555 Human Phenotype Hypoglycemia 2 1.366273e-18 4.5585698645000005e-15 2.445198 125 0.01960477 19 0.003692824151578947 1.647851 56 113 0.00991677 Human Phenotype Abnormality of blood glucose concentration 15 1.011863e-13 4.501441199333334e-11 2.041367 132 0.02070263 20 0.0037186727194999996 1.609784 61 126 0.0108022 Human Phenotype Lethargy 29 7.122041e-11 1.638806192862069e-8 2.095071 95 0.01489962 15 0.0025727048610666666 1.781319 45 84 0.007968833 Human Phenotype Abnormality of the mitochondrion 38 6.379893e-10 1.1203427891842104e-7 2.374369 65 0.01019448 84 0.04085031858928572 1.639148 35 71 0.006197981 Human Phenotype Abnormality of mitochondrial metabolism 39 6.416422e-10 1.0978662565641027e-7 2.392634 64 0.01003764 90 0.045997752687777775 1.638469 34 69 0.006020896 Human Phenotype Azotemia 52 1.107827e-8 0.0000014216403021153847 2.014541 80 0.01254705 4 0.00225201571775 1.927611 40 69 0.007083407 Human Phenotype Abnormality of nitrogen compound homeostasis 53 1.217725e-8 0.0000015331847028301888 2.009945 80 0.01254705 5 0.0029863730284000003 1.900073 40 70 0.007083407 Human Phenotype Genetic anticipation 221 0.00003584292 0.0010822615618099546 3.110019 18 0.002823087 77 0.03812128041168831 2.95567 8 9 0.001416681 Mouse Phenotype Single KO abnormal liver physiology 1 5.125833e-38 4.693725278100001e-34 2.131676 353 0.05536386 114 0.00026487152642105266 1.3995 133 316 0.02355233 Mouse Phenotype Single KO abnormal cellular replicative senescence 45 1.100122e-20 2.2386260342222222e-18 3.42594 82 0.01286073 303 0.028325465962376242 1.662564 30 60 0.005312555 Mouse Phenotype Single KO early cellular replicative senescence 47 1.777653e-20 3.4633975576595747e-18 3.600818 76 0.0119197 287 0.02529122879477352 1.726509 27 52 0.0047813 Mouse Phenotype Single KO decreased susceptibility to endotoxin shock 48 2.820127e-20 5.379979778958334e-18 3.284165 85 0.01333124 283 0.02510299332862191 1.662564 31 62 0.005489641 Mouse Phenotype Single KO abnormal hepatocyte physiology 55 1.168491e-19 1.9454312885454544e-17 2.346652 144 0.02258469 173 0.002920350969306358 1.645064 47 95 0.008323003 Mouse Phenotype Single KO spontaneous skin ulceration 60 8.66264e-19 1.3220632413333335e-16 4.172635 58 0.009096612 371 0.044817591334231806 1.995077 15 25 0.002656278 Mouse Phenotype Single KO abnormal head mesenchyme morphology 136 8.135936e-14 5.4779974964705876e-12 2.982579 64 0.01003764 279 0.02456376080860215 2.018828 17 28 0.003010448 Mouse Phenotype Single KO abnormal osteoblast differentiation 230 9.297939e-11 3.701792496652174e-9 2.223116 82 0.01286073 302 0.028272276917549667 1.773402 24 45 0.004250044 Mouse Phenotype Single KO abnormal head development 237 1.491906e-10 5.7642967265822785e-9 2.37265 70 0.01097867 314 0.030636230783439487 1.837571 21 38 0.003718789 Mouse Phenotype Single KO abnormal B cell apoptosis 245 2.539255e-10 9.490595116326529e-9 2.35895 69 0.01082183 137 0.0007664957083211678 2.131493 25 39 0.004427129 Mouse Phenotype Single KO kinked neural tube 250 3.675551e-10 1.3462808202800001e-8 2.205916 78 0.01223338 179 0.003162933182234637 1.890759 29 51 0.00513547 Mouse Phenotype Single KO increased circulating ammonia level 478 0.000002471081 0.00004733826091422594 3.264013 22 0.003450439 270 0.02250481636037037 2.557791 10 13 0.001770852 Mouse Phenotype Single KO abnormal umbilical vein topology 492 0.000003687579 0.0000686324408597561 3.7012 18 0.002823087 277 0.024412707454151625 3.325128 6 6 0.001062511 Mouse Phenotype Single KO increased papilloma incidence 533 0.000009961397 0.00017113792181801124 2.071658 44 0.006900878 369 0.04498466827371274 1.870385 18 32 0.003187533 Mouse Phenotype Single KO abnormal internal carotid artery morphology 830 0.0005192922 0.005729106837831326 2.419287 19 0.002979925 361 0.04361014908587258 2.493846 9 12 0.001593767 Mouse Phenotype Single KO decreased thymocyte apoptosis 1003 0.001869642 0.017069104480558324 2.029913 22 0.003450439 213 0.010799482061971831 2.612601 11 14 0.001947937 Mouse Phenotype extramedullary hematopoiesis 5 1.677623e-39 3.2079507006e-36 2.574441 252 0.03952321 483 0.013312002004347826 1.387054 73 175 0.01292722 Mouse Phenotype early cellular replicative senescence 27 2.766107e-28 9.795092232222223e-26 3.486824 112 0.01756587 219 0.00039965931734246574 1.821988 40 73 0.007083407 Mouse Phenotype abnormal cellular replicative senescence 36 1.295753e-25 3.4413040091666665e-23 3.167718 115 0.01803639 317 0.0029879859250788645 1.662564 42 84 0.007437577 Mouse Phenotype increased mammary gland apoptosis 41 1.771121e-25 4.1301677758536586e-23 7.995913 45 0.007057716 603 0.02726010756218905 2.493846 9 12 0.001593767 Mouse Phenotype decreased trabecular bone thickness 54 2.499572e-23 4.425631091111111e-21 2.671831 136 0.02132999 351 0.004757956741880342 1.741734 33 63 0.005843811 Mouse Phenotype enlarged axillary lymph nodes 57 1.26277e-22 2.1181305210526314e-20 8.481294 38 0.005959849 755 0.04860076646225165 2.85011 6 7 0.001062511 Mouse Phenotype decreased susceptibility to endotoxin shock 61 3.886795e-22 6.092073277868852e-20 3.049617 104 0.01631117 427 0.010409423435831382 1.600988 39 81 0.006906322 Mouse Phenotype abnormal hepatocyte physiology 80 1.433652e-20 1.7133933465000001e-18 2.074635 198 0.03105395 195 0.00017421058875384619 1.577304 74 156 0.0131043 Mouse Phenotype thick epidermis 101 2.159156e-19 2.0439297540594057e-17 2.228567 158 0.02478043 274 0.0013192040987956206 1.591514 56 117 0.00991677 Mouse Phenotype dry eyes 107 3.459234e-19 3.0910033900934575e-17 4.47301 55 0.008626098 588 0.02593284664285714 2.286026 11 16 0.001947937 Mouse Phenotype abnormal spleen red pulp morphology 116 1.298586e-18 1.0703259263793103e-16 2.02725 188 0.02948557 337 0.004113037227596439 1.468239 68 154 0.01204179 Mouse Phenotype spontaneous skin ulceration 131 8.454413e-18 6.170430739923665e-16 3.448198 69 0.01082183 519 0.01612236428265896 1.828821 22 40 0.003895874 Mouse Phenotype increased B cell proliferation 133 1.150913e-17 8.273593378195489e-16 2.59372 106 0.01662484 427 0.010409423435831382 1.600988 39 81 0.006906322 Mouse Phenotype abnormal keratinocyte physiology 146 1.769596e-16 1.158842969589041e-14 2.164733 141 0.02211418 438 0.010872849966438355 1.500722 51 113 0.009031344 Mouse Phenotype abnormal hair follicle outer root sheath morphology 160 1.168144e-15 6.98039049e-14 3.212561 66 0.01035132 678 0.03664631177433628 1.900073 16 28 0.002833363 Mouse Phenotype abnormal adrenal gland physiology 216 1.405446e-13 6.221050558333333e-12 2.477886 86 0.01348808 445 0.01174305868786517 1.974295 19 32 0.003364618 Mouse Phenotype abnormal keratinocyte proliferation 217 1.560096e-13 6.873768597235024e-12 2.314605 98 0.01537014 488 0.013987423646926228 1.616382 35 72 0.006197981 Mouse Phenotype pale liver 235 4.176933e-13 1.699389634595745e-11 2.05712 123 0.01929109 255 0.0007933650310588236 1.632336 54 110 0.0095626 Mouse Phenotype abnormal B cell apoptosis 247 1.115586e-12 4.3182662939271255e-11 2.082626 115 0.01803639 203 0.00023060990704433493 1.842301 41 74 0.007260492 Mouse Phenotype abnormal mesangial matrix morphology 257 2.029166e-12 7.548971255252918e-11 2.366023 85 0.01333124 729 0.044848565679012346 1.629965 25 51 0.004427129