# 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 63 7.285244e-163 1.5216908856507938e-160 2.153017 1564 0.032977 469 0.001519384154413646 1.127873 216 248 0.01489655 GO Biological Process regulation of intrinsic apoptotic signaling pathway 136 1.547918e-102 1.4977244825000001e-100 2.105934 1036 0.0218441 778 0.022478142910025707 1.127873 135 155 0.009310345 GO Biological Process regulation of DNA-templated transcription in response to stress 141 6.648456e-100 6.204754078297873e-98 2.281003 845 0.01781686 805 0.026976358664596273 1.142617 105 119 0.007241379 GO Biological Process endoplasmic reticulum unfolded protein response 144 1.604615e-96 1.4663283878472222e-94 2.388109 743 0.01566618 568 0.005126046748943662 1.170013 103 114 0.007103448 GO Biological Process cellular response to topologically incorrect protein 153 9.640981e-89 8.291873789477125e-87 2.167256 838 0.01766926 564 0.004948138639716312 1.155221 124 139 0.008551724 GO Biological Process cellular response to unfolded protein 172 1.0862e-83 8.310061511627907e-82 2.195567 767 0.01617222 556 0.004667485466366906 1.166539 109 121 0.007517241 GO Biological Process regulation of mitochondrial membrane permeability 204 2.14985e-74 1.3867586348039215e-72 2.319222 605 0.01275645 918 0.042606190131808275 1.170791 66 73 0.004551724 GO Biological Process platelet aggregation 215 9.789897e-72 5.991872308046512e-70 2.824342 406 0.008560525 845 0.03256861843668639 1.231796 39 41 0.002689655 GO Biological Process erythrocyte homeostasis 253 5.514828e-62 2.8683644921739127e-60 2.070496 647 0.01364202 436 0.0008264187011238532 1.227695 73 77 0.005034483 GO Biological Process erythrocyte differentiation 295 7.114692e-55 3.173634984e-53 2.052751 583 0.01229258 530 0.003542658531509434 1.219895 65 69 0.004482759 GO Biological Process positive regulation of mRNA metabolic process 305 1.059361e-52 4.5705348849180327e-51 2.282657 439 0.009256331 424 0.0007244460891745282 1.270062 51 52 0.003517241 GO Biological Process cotranslational protein targeting to membrane 323 1.197397e-50 4.87818796377709e-49 2.177647 467 0.009846712 749 0.01864791932576769 1.162826 88 98 0.006068966 GO Biological Process nuclear-transcribed mRNA catabolic process, nonsense-mediated decay 338 6.978261e-49 2.7167732692011835e-47 2.039126 526 0.01109073 515 0.0029243411784466017 1.174248 107 118 0.00737931 GO Biological Process regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway 392 1.188112e-44 3.988358624489796e-43 2.24522 383 0.008075569 937 0.04718573038633938 1.210511 43 46 0.002965517 GO Biological Process SRP-dependent cotranslational protein targeting to membrane 461 1.604654e-39 4.5803995631236444e-38 2.056304 413 0.00870812 899 0.039356168470522805 1.154208 82 92 0.005655172 GO Biological Process gene silencing by miRNA 508 2.165755e-37 5.610072843503937e-36 2.208154 330 0.006958062 755 0.01911061526490066 1.236103 42 44 0.002896552 GO Biological Process positive regulation of intrinsic apoptotic signaling pathway 587 2.774446e-33 6.219580053492335e-32 2.051047 347 0.007316507 902 0.03970329978713969 1.199042 50 54 0.003448276 GO Biological Process negative regulation of response to endoplasmic reticulum stress 650 2.33976e-30 4.736754129230769e-29 2.066634 309 0.006515276 886 0.03844413731715576 1.230217 38 40 0.00262069 GO Biological Process mismatch repair 849 8.601562e-24 1.3331914529799765e-22 2.416538 169 0.003563371 703 0.01338000007027027 1.294966 28 28 0.001931034 GO Cellular Component PcG protein complex 55 1.095185e-80 3.440872145454545e-79 2.632494 516 0.01087988 175 0.03317669156571428 1.210511 43 46 0.002965517 GO Cellular Component melanosome 60 2.465463e-76 7.10053344e-75 2.022332 848 0.01788011 69 0.000051283584 1.220967 99 105 0.006827586 GO Cellular Component ficolin-1-rich granule lumen 63 2.581516e-73 7.080729599999999e-72 2.127649 720 0.01518123 56 0.0000012124135542857142 1.232306 118 124 0.008137931 GO Cellular Component histone methyltransferase complex 71 1.015808e-62 2.4722763718309863e-61 2.270805 531 0.01119615 132 0.007669652072727272 1.201127 64 69 0.004413793 GO Cellular Component methyltransferase complex 75 1.969733e-60 4.538264832e-59 2.135238 586 0.01235583 82 0.0007032863063414633 1.209583 85 91 0.005862069 Human Phenotype Gastrointestinal hemorrhage 38 1.486039e-27 2.6095626965789473e-25 2.335064 212 0.004470028 181 0.04422927074585635 1.294966 26 26 0.001793103 Mouse Phenotype Single KO abnormal erythropoiesis 55 5.7099e-118 9.506464418181819e-116 2.093135 1210 0.02551289 138 0.0002240670124347826 1.212559 103 110 0.007103448 Mouse Phenotype Single KO abnormal megakaryocyte progenitor cell morphology 83 1.314961e-92 1.4507346839759035e-90 2.092566 949 0.0200097 471 0.037928993898089174 1.162526 79 88 0.005448276 Mouse Phenotype Single KO abnormal circulating tumor necrosis factor level 94 1.180183e-83 1.14967401393617e-81 2.258318 721 0.01520231 233 0.0044957804566523605 1.183968 96 105 0.00662069 Mouse Phenotype Single KO decreased mean corpuscular volume 103 5.885593e-81 5.2324636020388345e-79 2.203019 736 0.01551859 319 0.01419315193322884 1.179857 82 90 0.005655172 Mouse Phenotype Single KO decreased mean corpuscular hemoglobin 116 3.313035e-76 2.615298404741379e-74 2.349082 604 0.01273536 476 0.038181073369747895 1.18236 63 69 0.004344828 Mouse Phenotype Single KO enlarged liver sinusoidal spaces 124 5.596124e-73 4.132557053870968e-71 2.716365 441 0.009298501 214 0.0029732779 1.294966 37 37 0.002551724 Mouse Phenotype Single KO increased circulating interferon-gamma level 166 2.487258e-61 1.372037440120482e-59 2.842799 342 0.007211082 259 0.007121066561003861 1.26485 42 43 0.002896552 Mouse Phenotype Single KO poikilocytosis 167 2.62764e-61 1.4407963760479041e-59 3.37323 265 0.005587535 484 0.039847990940082643 1.255724 32 33 0.002206897 Mouse Phenotype Single KO increased circulating tumor necrosis factor level 178 5.323733e-59 2.7387316337640445e-57 2.363427 459 0.009678032 489 0.04019011045194274 1.190533 57 62 0.003931034 Mouse Phenotype Single KO increased integument system tumor incidence 245 5.435598e-42 2.0315824851428575e-40 2.004569 469 0.009888882 245 0.00569547833510204 1.20977 71 76 0.004896552 Mouse Phenotype extramedullary hematopoiesis 55 4.670873e-144 8.119675773272728e-142 2.073873 1510 0.0318384 378 0.005060976234920634 1.13957 154 175 0.01062069 Mouse Phenotype abnormal erythropoiesis 62 3.936696e-137 6.070766202580646e-135 2.051338 1476 0.03112151 183 0.00008763737990163935 1.190673 137 149 0.009448276 Mouse Phenotype abnormal megakaryocyte progenitor cell morphology 82 5.590131e-116 6.517956401341462e-114 2.091299 1192 0.02513336 243 0.000609889894691358 1.189684 113 123 0.007793103 Mouse Phenotype abnormal circulating tumor necrosis factor level 91 3.583526e-105 3.7650650643956044e-103 2.169086 993 0.02093744 314 0.0022080815874840763 1.161921 131 146 0.009034483 Mouse Phenotype decreased erythroid progenitor cell number 98 3.126514e-98 3.050265342244898e-96 2.172124 924 0.01948257 587 0.029288698308347526 1.175692 69 76 0.004758621 Mouse Phenotype increased circulating tumor necrosis factor level 106 1.167313e-94 1.052894301226415e-92 2.393884 725 0.01528665 347 0.0033491163527377523 1.189254 90 98 0.006206897 Mouse Phenotype decreased mean corpuscular volume 115 1.253369e-91 1.0420400877391305e-89 2.150499 881 0.01857592 327 0.002808143766880734 1.185016 97 106 0.006689655 Mouse Phenotype increased circulating interferon-gamma level 127 9.042393e-84 6.80742673015748e-82 3.058227 420 0.008855715 373 0.004837860873458445 1.245159 50 52 0.003448276 Mouse Phenotype enlarged liver sinusoidal spaces 164 1.377085e-74 8.028237612804878e-73 2.570467 497 0.01047926 261 0.0009029690467816092 1.294966 41 41 0.002827586 Mouse Phenotype poikilocytosis 189 7.752169e-68 3.921613111587301e-66 3.16972 321 0.006768297 454 0.010924457566519823 1.261761 38 39 0.00262069 Mouse Phenotype abnormal liver sinusoid morphology 190 2.053465e-67 1.0333252034210526e-65 2.056248 717 0.01511797 730 0.04719743119315069 1.162149 70 78 0.004827586 Mouse Phenotype pancytopenia 278 3.657323e-47 1.2578296835611512e-45 2.579358 308 0.006494191 462 0.011418271848051949 1.294966 29 29 0.002 Mouse Phenotype increased circulating interleukin-17 level 345 8.988013e-39 2.490851950521739e-37 2.731522 227 0.004786303 722 0.04474126892243767 1.294966 22 22 0.001517241 Mouse Phenotype increased circulating iron level 371 2.804106e-36 7.226430583827494e-35 2.075713 369 0.007780378 555 0.023447895983783783 1.234735 41 43 0.002827586 Mouse Phenotype macrocytosis 441 4.741591e-32 1.0279898310884355e-30 2.26266 266 0.00560862 539 0.021280497745825605 1.294966 26 26 0.001793103 Mouse Phenotype anisocytosis 446 1.094167e-31 2.3455898401345288e-30 2.030028 338 0.007126742 676 0.038967821445266275 1.212308 44 47 0.003034483