# 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 gene expression, epigenetic 47 1.150091e-54 3.2200100997872337e-52 2.581325 352 0.03953723 406 0.001822105014408867 1.330819 121 248 0.01757699 GO Biological Process negative regulation of gene expression, epigenetic 52 1.234084e-50 3.1229444915384615e-48 3.816577 184 0.02066719 750 0.041866463856 1.363815 57 114 0.00828007 GO Biological Process regulation of DNA-templated transcription in response to stress 81 1.86688e-40 3.03287332345679e-38 2.962277 206 0.02313827 766 0.044596280471279365 1.352354 59 119 0.008570598 GO Biological Process viral life cycle 100 3.648304e-35 4.8008032336e-33 2.05114 360 0.04043581 234 0.000014008795848290596 1.391274 152 298 0.02208019 GO Biological Process gene silencing 111 9.07061e-34 1.0753167296396398e-31 2.519955 224 0.02516006 396 0.0016349628835606062 1.394122 92 180 0.01336432 GO Biological Process multi-organism metabolic process 131 1.510461e-29 1.5172638396183206e-27 2.608135 183 0.02055487 148 1.0172013694594594e-7 1.669977 90 147 0.01307379 GO Biological Process mRNA catabolic process 135 2.061328e-29 2.0092603816296295e-27 2.252271 242 0.02718185 137 6.128765829562044e-8 1.562304 122 213 0.01772225 GO Biological Process RNA catabolic process 140 2.397924e-28 2.253877279714286e-26 2.120598 266 0.02987757 153 2.621188513594771e-7 1.505289 133 241 0.01932016 GO Biological Process viral gene expression 144 5.480301e-28 5.008005615208334e-26 2.824182 151 0.01696058 174 8.90103498045977e-7 1.675237 78 127 0.01133062 GO Biological Process nuclear-transcribed mRNA catabolic process 155 1.965445e-26 1.6685994035483872e-24 2.243693 218 0.02448613 168 6.532919489821428e-7 1.542901 112 198 0.01626961 GO Biological Process viral transcription 159 4.363495e-26 3.6112723713836485e-24 2.825766 140 0.01572504 149 1.250241005771812e-7 1.762097 73 113 0.0106043 GO Biological Process regulation of intrinsic apoptotic signaling pathway 160 7.581367e-26 6.2352005220625e-24 2.263188 209 0.02347523 640 0.021429061403124998 1.337418 76 155 0.01104009 GO Biological Process rRNA metabolic process 178 1.485934e-24 1.0985059273033708e-22 2.059198 245 0.02751881 393 0.0015819719664885497 1.326955 126 259 0.01830331 GO Biological Process endoplasmic reticulum unfolded protein response 186 7.09046e-24 5.016309846236559e-22 2.568301 150 0.01684825 595 0.015209327011764705 1.411668 59 114 0.008570598 GO Biological Process rRNA processing 191 1.004493e-23 6.920483448691099e-22 2.056347 237 0.02662024 458 0.003842850352183406 1.309695 121 252 0.01757699 GO Biological Process establishment of protein localization to membrane 195 2.273496e-23 1.5342017366153846e-21 2.002595 249 0.0279681 318 0.00034413135412578617 1.395239 111 217 0.01612435 GO Biological Process cellular response to topologically incorrect protein 212 2.192737e-22 1.3610484048584907e-20 2.328317 169 0.01898237 651 0.02312052470814132 1.354003 69 139 0.01002324 GO Biological Process response to topologically incorrect protein 221 9.092971e-22 5.4142264881900454e-20 2.106964 204 0.02291362 617 0.01797920141669368 1.318354 87 180 0.012638 GO Biological Process regulation of megakaryocyte differentiation 222 1.335242e-21 7.914616881981982e-20 2.679204 125 0.01404021 400 0.00170945081865 1.615044 45 76 0.006536897 GO Biological Process cellular response to unfolded protein 226 7.179438e-21 4.180275426637168e-19 2.348342 154 0.01729754 533 0.009226920448968105 1.420171 63 121 0.009151656 GO Cellular Component ribosomal subunit 56 1.267717e-21 3.911812457142858e-20 2.249279 175 0.0196563 73 0.0023623992197260276 1.371187 93 185 0.01350959 GO Cellular Component melanosome 81 4.326958e-16 9.230843733333332e-15 2.032666 160 0.01797147 58 0.0004450437186206897 1.558645 60 105 0.008715863 GO Cellular Component cytosolic ribosome 87 8.569624e-15 1.7021046289655172e-13 2.138999 129 0.0144895 35 0.0000011587819885714285 1.704768 70 112 0.01016851 GO Cellular Component platelet dense tubular network 91 5.138839e-14 9.758147024175825e-13 4.81613 36 0.004043581 128 0.039884022 2.231697 9 11 0.001307379 GO Cellular Component platelet dense tubular network membrane 93 8.204878e-14 1.5245192670967742e-12 5.018239 34 0.003818937 115 0.029687656069565218 2.424559 8 9 0.001162115 GO Cellular Component autophagosome 99 3.980786e-13 6.948281018181818e-12 2.003784 132 0.01482646 87 0.009858369103448276 1.490681 47 86 0.006827426 GO Cellular Component vesicle coat 105 3.05969e-12 5.035375542857143e-11 2.335684 86 0.009659665 85 0.007937732668235295 1.657971 31 51 0.004503196 GO Cellular Component cytosolic large ribosomal subunit 115 3.51769e-11 5.285711582608696e-10 2.422608 72 0.008087162 33 9.6441984e-7 1.96747 44 61 0.006391633 GO Cellular Component clathrin coat 124 1.394062e-10 1.942692851612903e-9 2.182016 84 0.009435022 62 0.0012002791122580644 1.781309 32 49 0.00464846 GO Cellular Component large ribosomal subunit 127 4.188372e-10 5.698824264566929e-9 2.024402 95 0.01067056 98 0.016088737959183676 1.399392 59 115 0.008570598 GO Cellular Component nuclear euchromatin 143 5.713913e-9 6.90464452027972e-8 2.348257 59 0.00662698 82 0.0073856616585365855 1.963893 18 25 0.002614759 GO Cellular Component clathrin vesicle coat 159 7.036617e-8 7.647342249056605e-7 2.356409 50 0.005616084 82 0.0073856616585365855 1.963893 18 25 0.002614759 GO Cellular Component podosome 170 1.869414e-7 0.0000019002043482352942 2.199073 54 0.006065371 51 0.00011268850447058823 2.163292 23 29 0.003341081 GO Cellular Component clathrin complex 190 0.00000114214 0.000010387462736842107 3.217219 24 0.002695721 115 0.029687656069565218 2.424559 8 9 0.001162115 GO Cellular Component clathrin coat of coated pit 268 0.00009386588 0.0006052247785074626 2.072759 34 0.003818937 119 0.033909967058823536 1.969954 13 18 0.001888437 GO Cellular Component transcription factor TFIIA complex 348 0.0009143826 0.0045403825655172415 3.417737 10 0.001123217 120 0.0349181136 2.727629 6 6 0.0008715863 GO Cellular Component pre-autophagosomal structure membrane 430 0.005762771 0.023158298344186045 2.028825 17 0.001909469 117 0.03053665476923077 2.045722 12 16 0.001743173 GO Molecular Function structural constituent of ribosome 27 5.549986e-17 8.678533663703705e-15 2.129001 152 0.0170729 67 0.0033497077035820897 1.414326 84 162 0.01220221 GO Molecular Function RNA polymerase II core binding 121 8.482426e-8 0.0000029597357497520664 2.341512 50 0.005616084 93 0.03561854889677419 1.850891 19 28 0.002760023 GO Molecular Function AP-2 adaptor complex binding 332 0.0004303066 0.005472152003614458 2.335688 21 0.002358755 83 0.016559146893975904 2.727629 8 8 0.001162115 Human Phenotype Atherosclerosis 34 2.720231e-9 5.338853371470588e-7 2.487687 55 0.006177693 2 0.0086182362205 2.085834 26 34 0.003776874 Human Phenotype Myocardial infarction 38 5.548142e-9 9.742829359473684e-7 3.682739 29 0.003257329 31 0.0274567688516129 2.500327 11 12 0.001597908 Human Phenotype Coronary artery disease 50 3.1741e-8 0.00000423615386 2.529033 46 0.005166798 10 0.007919509727 2.182103 20 25 0.002905288 Human Phenotype Arteriosclerosis 66 1.713912e-7 0.000017328689054545455 2.169718 56 0.006290015 6 0.008451416781333333 1.990432 27 37 0.003922138 Human Phenotype Abnormal coronary artery morphology 89 7.871197e-7 0.00005901628941685394 2.227334 47 0.005279119 15 0.018241570822666666 2.045722 21 28 0.003050552 Mouse Phenotype Single KO abnormal T cell activation 45 1.818527e-43 3.700500386444445e-41 2.032427 457 0.05133101 458 0.012597838718558952 1.255276 133 289 0.01932016 Mouse Phenotype Single KO abnormal CD4-positive, alpha-beta T cell physiology 53 6.592773e-37 1.1390570256792455e-34 2.411312 267 0.02998989 543 0.022418241600368326 1.336355 73 149 0.0106043 Mouse Phenotype Single KO enlarged lymph nodes 56 7.235654e-35 1.183158637107143e-32 2.390444 256 0.02875435 374 0.005680258487700534 1.415086 69 133 0.01002324 Mouse Phenotype Single KO decreased erythrocyte cell number 61 1.318972e-33 1.9799715744262297e-31 2.07028 336 0.03774009 156 0.00003856164729679487 1.496299 96 175 0.01394538 Mouse Phenotype Single KO abnormal mean corpuscular hemoglobin 62 2.574369e-33 3.8021769246774188e-31 2.217436 285 0.03201168 146 0.00001892100247739726 1.511886 97 175 0.01409064 Mouse Phenotype Single KO abnormal circulating cytokine level 64 4.003446e-33 5.7280554721875e-31 2.083667 326 0.03661687 413 0.008395215201694915 1.280528 123 262 0.01786752 Mouse Phenotype Single KO abnormal embryonic hematopoiesis 70 3.254514e-31 4.2573692425714284e-29 2.818381 170 0.01909469 334 0.0036341555880239525 1.698335 33 53 0.004793725 Mouse Phenotype Single KO abnormal embryonic erythrocyte morphology 80 9.978272e-30 1.1421379587999999e-27 3.691325 110 0.01235539 326 0.0035024092463190183 1.870374 24 35 0.003486345 Mouse Phenotype Single KO abnormal embryonic erythropoiesis 92 2.818097e-28 2.804925459673913e-26 3.82024 100 0.01123217 564 0.02427812944680851 1.787067 19 29 0.002760023 Mouse Phenotype Single KO decreased erythroid progenitor cell number 99 8.198178e-27 7.582900600606061e-25 2.665108 159 0.01785915 336 0.003689774995833333 1.711454 32 51 0.00464846 Mouse Phenotype Single KO abnormal erythropoiesis 100 1.027595e-26 9.409687415000002e-25 2.174769 236 0.02650792 183 0.00017237131796174864 1.586984 64 110 0.00929692 Mouse Phenotype Single KO abnormal circulating tumor necrosis factor level 108 2.4817e-25 2.104159898148148e-23 2.602938 156 0.01752218 475 0.013611157578947366 1.428758 55 105 0.007989541 Mouse Phenotype Single KO abnormal circulating interleukin level 109 3.050386e-25 2.5626040919266055e-23 2.056767 253 0.02841739 468 0.013002940000000001 1.30394 98 205 0.01423591 Mouse Phenotype Single KO abnormal NK cell morphology 112 2.438812e-24 1.9939465610714285e-22 2.051268 245 0.02751881 341 0.003868703603812317 1.410843 75 145 0.01089483 Mouse Phenotype Single KO cortical renal glomerulopathies 124 6.660648e-23 4.9186736883870964e-21 2.046278 231 0.02594631 355 0.004129693504788733 1.424881 70 134 0.01016851 Mouse Phenotype Single KO abnormal tumor necrosis factor level 129 5.45693e-22 3.8735742643410857e-20 2.08663 211 0.02369988 359 0.004662996918941504 1.412873 72 139 0.01045904 Mouse Phenotype Single KO decreased double-positive T cell number 160 1.068154e-18 6.11317886125e-17 2.022728 191 0.02145344 442 0.010776214493212668 1.442496 55 104 0.007989541 Mouse Phenotype Single KO abnormal platelet activation 162 1.223079e-18 6.913416298148148e-17 2.278033 145 0.01628664 402 0.007921948486069653 1.508219 47 85 0.006827426 Mouse Phenotype Single KO abnormal iron level 164 1.469846e-18 8.206938915853657e-17 2.166503 161 0.01808379 488 0.014559836407786884 1.398197 61 119 0.008861127 Mouse Phenotype Single KO abnormal lymph node cortex morphology 168 3.230269e-18 1.7606888829166668e-16 2.647598 106 0.0119061 586 0.02829834901365188 1.591117 28 48 0.004067403 Mouse Phenotype decreased erythrocyte cell number 52 9.591253e-46 1.7634994217884615e-43 2.117698 437 0.04908458 146 6.10871935890411e-7 1.499606 127 231 0.01844858 Mouse Phenotype abnormal CD4-positive, alpha-beta T cell physiology 63 3.685025e-38 5.592464130952381e-36 2.220449 327 0.03672919 456 0.0018996589453289473 1.378968 91 180 0.01321906 Mouse Phenotype enlarged lymph nodes 65 1.930681e-37 2.8398832370769236e-35 2.057793 381 0.04279456 341 0.00036653509425219944 1.382328 112 221 0.01626961 Mouse Phenotype abnormal mean corpuscular hemoglobin 80 6.507985e-33 7.777855573125e-31 2.150882 301 0.03380883 180 0.0000035796623025000002 1.526879 103 184 0.01496223 Mouse Phenotype abnormal circulating tumor necrosis factor level 92 7.597707e-31 7.89583441597826e-29 2.466906 212 0.0238122 506 0.0036052376940711463 1.401179 75 146 0.01089483 Mouse Phenotype abnormal tumor necrosis factor level 96 5.114137e-30 5.093360818437501e-28 2.09357 291 0.03268561 444 0.0015596441544594593 1.370881 97 193 0.01409064 Mouse Phenotype abnormal embryonic hematopoiesis 98 7.832024e-30 7.641018516734693e-28 2.631331 182 0.02044255 412 0.0009568655761893204 1.699179 38 61 0.005520046 Mouse Phenotype abnormal erythropoiesis 99 1.305731e-29 1.261019605151515e-27 2.102608 284 0.03189936 202 0.00000606165980049505 1.574336 86 149 0.01249274 Mouse Phenotype abnormal embryonic erythrocyte morphology 101 2.413969e-29 2.285144317722772e-27 3.436325 119 0.01336628 325 0.00025351435718769233 1.958298 28 39 0.004067403 Mouse Phenotype decreased erythroid progenitor cell number 104 2.272655e-28 2.0893129283653843e-26 2.454472 196 0.02201505 551 0.005439681496551724 1.543264 43 76 0.006246368 Mouse Phenotype abnormal embryonic erythropoiesis 111 2.050965e-27 1.7666014743243245e-25 3.552097 106 0.0119061 590 0.0069690177615254235 1.847749 21 31 0.003050552 Mouse Phenotype extramedullary hematopoiesis 115 6.74045e-27 5.603951517391305e-25 2.033945 278 0.03122543 203 0.000006379315853201971 1.527472 98 175 0.01423591 Mouse Phenotype increased circulating interferon-gamma level 122 2.834159e-25 2.2210978851639345e-23 3.646176 94 0.01055824 958 0.038067371004175364 1.521178 29 52 0.004212667 Mouse Phenotype increased circulating tumor necrosis factor level 132 4.056144e-24 2.937938847272727e-22 2.603252 148 0.01662361 489 0.002889967689570552 1.502979 54 98 0.007844277 Mouse Phenotype lymph node hyperplasia 137 1.098916e-23 7.669150274452554e-22 3.033675 113 0.01269235 450 0.0016224881021333333 1.797756 29 44 0.004212667 Mouse Phenotype abnormal iron homeostasis 148 5.557535e-23 3.590242711824324e-21 2.190029 198 0.02223969 529 0.004383170866162571 1.402781 72 140 0.01045904 Mouse Phenotype abnormal iron level 156 1.785603e-22 1.0943686078846154e-20 2.218059 188 0.02111648 580 0.006703177537241379 1.394122 69 135 0.01002324 Mouse Phenotype abnormal platelet physiology 157 2.375921e-22 1.4468904892356688e-20 2.0979 212 0.0238122 327 0.00027400764641284404 1.508462 73 132 0.0106043 Mouse Phenotype abnormal T-helper 2 physiology 160 5.761485e-22 3.4428473803125e-20 2.510432 143 0.016062 843 0.02381841310320285 1.484151 37 68 0.005374782 Mouse Phenotype abnormal spleen secondary B follicle morphology 187 6.13249e-20 3.1354404754010696e-18 2.002601 210 0.02358755 353 0.0004117432461756374 1.480713 76 140 0.01104009