# 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 erythrocyte homeostasis 317 4.290128e-69 1.780876793438486e-67 2.092915 705 0.01378973 382 0.0006716136579842932 1.234591 73 77 0.005062764 GO Biological Process erythrocyte differentiation 362 1.011599e-61 3.6772461991712706e-60 2.080652 637 0.01245966 481 0.0029056467237006233 1.226748 65 69 0.004507941 GO Biological Process regulation of CD4-positive, alpha-beta T cell differentiation 469 9.355505e-50 2.624927298400853e-48 2.096424 501 0.009799511 801 0.03552844573283396 1.237128 38 40 0.002635412 GO Biological Process positive regulation of intrinsic apoptotic signaling pathway 631 6.374327e-39 1.3293148810301107e-37 2.10557 384 0.007511002 807 0.035878396692688976 1.205778 50 54 0.003467647 GO Biological Process negative regulation of extrinsic apoptotic signaling pathway via death domain receptors 772 4.361755e-32 7.434758295984457e-31 2.148203 299 0.005848411 672 0.01715424276205357 1.266067 35 36 0.002427353 GO Biological Process actin nucleation 939 1.402376e-27 1.9652679216187433e-26 2.079139 275 0.005378973 608 0.010149320269078948 1.30224 29 29 0.002011235 GO Biological Process positive regulation of neutrophil migration 1029 3.401744e-25 4.350199154130223e-24 2.332933 193 0.003775061 816 0.03656174933455882 1.261545 31 32 0.002149941 GO Biological Process regulation of membrane protein ectodomain proteolysis 1185 7.284498e-22 8.08917377063291e-21 2.104479 208 0.00406846 873 0.045018295597938136 1.30224 22 22 0.001525765 GO Biological Process mismatch repair 1394 3.375142e-18 3.1860468850789094e-17 2.148891 162 0.003168704 635 0.012660590959370078 1.30224 28 28 0.001941882 GO Cellular Component PcG protein complex 54 5.362014e-91 1.71584448e-89 2.678715 566 0.0110709 116 0.008544115365517241 1.245621 44 46 0.003051529 GO Cellular Component ficolin-1-rich granule lumen 72 3.071166e-67 7.370798400000001e-66 2.028577 740 0.01447433 83 0.0005581225561445783 1.186719 113 124 0.007836882 GO Cellular Component histone methyltransferase complex 75 8.278943e-65 1.9074684672000001e-63 2.241435 565 0.01105134 133 0.020077359157894735 1.189002 63 69 0.004369235 GO Cellular Component tertiary granule lumen 164 1.298093e-27 1.3677467707317071e-26 2.044343 287 0.005613692 136 0.023011102588235296 1.207532 51 55 0.003537 Human Phenotype Hematological neoplasm 4 7.400602e-65 1.23460542865e-61 2.05707 689 0.01347677 59 0.00855032866220339 1.210317 79 85 0.005478882 Human Phenotype Leukemia 20 3.458404e-35 1.1538964945999999e-32 2.018726 383 0.007491443 120 0.044645951176666664 1.227111 49 52 0.003398294 Mouse Phenotype Single KO abnormal circulating cytokine level 53 9.261716e-175 1.600179875698113e-172 2.06359 1854 0.03626406 322 0.002278604845310559 1.123306 226 262 0.01567376 Mouse Phenotype Single KO abnormal circulating interleukin level 72 2.032922e-148 2.5854814936111114e-146 2.112207 1492 0.02918337 388 0.004890623897164948 1.130726 178 205 0.01234482 Mouse Phenotype Single KO abnormal erythropoiesis 83 3.559866e-136 3.927432886987952e-134 2.137511 1332 0.02605379 191 0.0001028139809790576 1.21937 103 110 0.007143353 Mouse Phenotype Single KO abnormal embryonic erythrocyte morphology 92 1.162531e-127 1.1570974311956523e-125 3.330946 570 0.01114914 537 0.018967574480446926 1.265033 34 35 0.002358 Mouse Phenotype Single KO decreased erythroid progenitor cell number 95 4.688373e-127 4.519098059052632e-125 2.542371 871 0.01703667 380 0.004466565313947369 1.251172 49 51 0.003398294 Mouse Phenotype Single KO abnormal embryonic hematopoiesis 109 6.74396e-119 5.6655451119266054e-117 2.474199 857 0.01676284 491 0.012130751602240326 1.228528 50 53 0.003467647 Mouse Phenotype Single KO enlarged lymph nodes 111 1.47767e-116 1.2190111882882883e-114 2.04886 1260 0.02464548 517 0.014453631968665375 1.14558 117 133 0.008114294 Mouse Phenotype Single KO abnormal erythroid progenitor cell morphology 127 9.682254e-105 6.981133848661417e-103 2.036253 1149 0.02247433 418 0.005997740801196172 1.194997 78 85 0.005409529 Mouse Phenotype Single KO extramedullary hematopoiesis 129 2.376556e-103 1.6869863017054263e-101 2.174596 971 0.01899267 454 0.008330288290748899 1.165162 102 114 0.007074 Mouse Phenotype Single KO abnormal circulating tumor necrosis factor level 133 6.25467e-101 4.3063167812030075e-99 2.344854 807 0.01578484 403 0.005448303661786601 1.178217 95 105 0.006588529 Mouse Phenotype Single KO abnormal megakaryocyte progenitor cell morphology 154 1.587255e-88 9.43798313961039e-87 2.020981 988 0.01932518 588 0.022803016799319727 1.169056 79 88 0.005478882 Mouse Phenotype Single KO abnormal iron level 177 1.002366e-80 5.1856867016949153e-79 2.045741 873 0.01707579 663 0.03633998956108597 1.138092 104 119 0.007212705 Mouse Phenotype Single KO decreased mean corpuscular volume 181 1.815425e-79 9.18444570441989e-78 2.140855 771 0.01508068 274 0.0009396258373722628 1.215424 84 90 0.005825647 Mouse Phenotype Single KO increased circulating interferon-gamma level 185 2.161603e-78 1.0699350632972972e-76 3.045856 395 0.007726161 540 0.018967233248148148 1.241671 41 43 0.00284347 Mouse Phenotype Single KO enlarged liver sinusoidal spaces 194 9.815458e-76 4.63299736628866e-74 2.679876 469 0.009173594 501 0.012601731802395207 1.267044 36 37 0.002496706 Mouse Phenotype Single KO decreased mean corpuscular hemoglobin 195 1.121216e-75 5.265115339487179e-74 2.287404 634 0.01240098 459 0.008899127708061002 1.207875 64 69 0.004438588 Mouse Phenotype Single KO abnormal circulating interferon level 204 9.985585e-73 4.482254992401961e-71 2.303306 600 0.01173594 674 0.037468188715133535 1.157547 80 90 0.005548235 Mouse Phenotype Single KO increased circulating tumor necrosis factor level 227 3.475086e-66 1.4018221366519824e-64 2.39787 502 0.009819071 600 0.025915210438333332 1.197221 57 62 0.003953117 Mouse Phenotype Single KO abnormal circulating interferon-gamma level 238 9.894149e-64 3.806753041722689e-62 2.3543 501 0.009799511 430 0.006423599297906976 1.210533 66 71 0.004577294 Mouse Phenotype Single KO increased integument system tumor incidence 311 1.567633e-51 4.615696263987138e-50 2.085577 526 0.01028851 577 0.021867693630849217 1.182297 69 76 0.004785353 Mouse Phenotype abnormal erythropoiesis 86 4.27678e-153 4.754685300000001e-151 2.073143 1608 0.03145232 195 0.0000032852145144615388 1.214841 139 149 0.009640058 Mouse Phenotype extramedullary hematopoiesis 88 2.51246e-151 2.7297306886363636e-149 2.058917 1616 0.0316088 328 0.00023890572069512197 1.168295 157 175 0.01088841 Mouse Phenotype decreased erythroid progenitor cell number 104 6.500859e-141 5.976414701826923e-139 2.383555 1093 0.02137897 390 0.000592219617076923 1.233701 72 76 0.004993411 Mouse Phenotype abnormal erythroid progenitor cell morphology 134 2.721502e-125 1.941811986716418e-123 2.025126 1394 0.0272665 457 0.0013428491447921224 1.181865 108 119 0.007490117 Mouse Phenotype abnormal embryonic erythrocyte morphology 146 4.304259e-116 2.818700020479452e-114 3.012154 599 0.01171638 619 0.006584314712277868 1.268849 38 39 0.002635412 Mouse Phenotype abnormal megakaryocyte progenitor cell morphology 150 3.159878e-115 2.0141062372e-113 2.042565 1255 0.02454768 413 0.0007401153894915255 1.18578 112 123 0.007767529 Mouse Phenotype abnormal circulating tumor necrosis factor level 153 9.614966e-114 6.00841110627451e-112 2.172274 1072 0.02096822 501 0.002247604078443114 1.159529 130 146 0.009015882 Mouse Phenotype abnormal circulating interleukin-6 level 157 3.822201e-112 2.327647373312102e-110 2.036687 1230 0.02405868 728 0.014091535009615384 1.135061 129 148 0.008946529 Mouse Phenotype abnormal embryonic erythropoiesis 160 1.74647e-111 1.0436249793750001e-109 3.145363 539 0.01054279 884 0.031041754941176468 1.260232 30 31 0.002080588 Mouse Phenotype abnormal spleen secondary B follicle morphology 163 1.487725e-108 8.726465475460123e-107 2.019351 1216 0.02378484 787 0.018031960959339264 1.134809 122 140 0.008461058 Mouse Phenotype increased circulating interferon-gamma level 169 7.525402e-105 4.2574182557396454e-103 3.255816 482 0.009427873 515 0.0027392394955339807 1.252154 50 52 0.003467647 Mouse Phenotype abnormal embryonic hematopoiesis 172 4.519074e-104 2.512027122906977e-102 2.260911 898 0.01756479 498 0.0022441087710843373 1.238196 58 61 0.00402247 Mouse Phenotype increased circulating tumor necrosis factor level 185 7.300787e-95 3.773125649027027e-93 2.337126 763 0.01492421 472 0.0017102923414830506 1.195935 90 98 0.006241764 Mouse Phenotype decreased mean corpuscular volume 196 1.934221e-89 9.435248459693877e-88 2.087789 922 0.01803423 301 0.00015235529733887042 1.216243 99 106 0.006865941 Mouse Phenotype abnormal proerythroblast morphology 209 4.275007e-86 1.955662293157895e-84 2.065776 910 0.01779951 572 0.004876578020979021 1.202068 72 78 0.004993411 Mouse Phenotype abnormal circulating interferon-gamma level 219 7.427168e-84 3.2425184131506846e-82 2.466868 605 0.01183374 663 0.008770179838914028 1.182494 79 87 0.005478882 Mouse Phenotype enlarged liver sinusoidal spaces 225 7.629567e-83 3.2420573372e-81 2.600443 542 0.01060147 567 0.004434061296296296 1.270478 40 41 0.002774117 Mouse Phenotype abnormal circulating interleukin-1 level 231 5.41853e-81 2.2427084558441555e-79 2.602223 529 0.01034719 970 0.04393883715773196 1.178217 57 63 0.003953117 Mouse Phenotype abnormal circulating interleukin-1 beta level 232 7.544625e-81 3.1092310183189655e-79 2.71265 491 0.009603912 1003 0.04858920218045862 1.185969 51 56 0.003537 Mouse Phenotype abnormal liver sinusoid morphology 240 5.335192e-79 2.125407113e-77 2.109706 793 0.015511 880 0.030343441486363632 1.168677 70 78 0.004854706