# 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 52 2.715782e-151 6.872495257307693e-149 2.241642 1325 0.03433443 384 0.000773857144921875 1.196495 186 248 0.01580289 GO Biological Process endoplasmic reticulum unfolded protein response 163 1.074373e-87 8.6734198202454e-86 2.476695 627 0.01624731 511 0.0035101928641878668 1.259469 90 114 0.007646559 GO Biological Process mitochondrial membrane organization 169 1.382204e-85 1.0762380139644971e-83 2.200432 779 0.02018605 292 0.00007015878577739725 1.312285 102 124 0.0086661 GO Biological Process regulation of intrinsic apoptotic signaling pathway 176 6.856721e-81 5.1265677067613636e-79 2.083487 834 0.02161126 750 0.027059149970666666 1.18363 115 155 0.009770603 GO Biological Process gene silencing 177 1.382223e-80 1.0276086133898305e-78 2.104825 811 0.02101526 760 0.02731240485263158 1.169907 132 180 0.01121495 GO Biological Process cellular response to topologically incorrect protein 178 2.690823e-80 1.9892438121910114e-78 2.237579 704 0.0182426 546 0.00520665960915751 1.228058 107 139 0.009090909 GO Biological Process cellular response to unfolded protein 192 1.350678e-76 9.257068646875e-75 2.27612 647 0.01676557 450 0.001683163596088889 1.265714 96 121 0.00815633 GO Biological Process response to topologically incorrect protein 200 3.97308e-75 2.6140879859999998e-73 2.011035 844 0.02187038 346 0.0003573708669508671 1.24081 140 180 0.01189465 GO Biological Process response to unfolded protein 214 3.311727e-71 2.0364025978037382e-69 2.025568 785 0.02034153 291 0.00007020832963230241 1.276262 128 160 0.01087511 GO Biological Process organelle transport along microtubule 216 7.139561e-71 4.3495131110648147e-69 2.460757 511 0.01324143 374 0.000649355484144385 1.377782 57 66 0.004842821 GO Biological Process regulation of membrane permeability 245 4.917932e-64 2.6414313137959185e-62 2.262143 546 0.01414838 536 0.004718206095708955 1.299896 66 81 0.005607477 GO Biological Process regulation of mitochondrial membrane permeability 255 2.717745e-62 1.402462998235294e-60 2.336729 496 0.01285274 469 0.0022500543236673772 1.333082 61 73 0.005182668 GO Biological Process regulation of megakaryocyte differentiation 338 1.155905e-52 4.500163874260355e-51 2.244925 454 0.0117644 348 0.0003655176186264368 1.364424 65 76 0.005522515 GO Biological Process iron ion homeostasis 381 1.303159e-48 4.500858079002624e-47 2.006116 544 0.01409655 509 0.0034033620656188607 1.298522 70 86 0.005947324 GO Biological Process negative regulation of G0 to G1 transition 409 5.283545e-46 1.6999063240831294e-44 2.511445 315 0.008162525 691 0.018041562206801736 1.385416 33 38 0.002803738 GO Biological Process positive regulation of mRNA metabolic process 444 2.908751e-44 8.620778020045046e-43 2.300479 360 0.0093286 613 0.00991217023588907 1.349892 44 52 0.003738318 GO Biological Process regulation of G0 to G1 transition 483 1.60309e-41 4.367507517598343e-40 2.365681 318 0.008240263 873 0.04647116676975946 1.329439 35 42 0.002973662 GO Biological Process interleukin-12-mediated signaling pathway 503 7.999735e-41 2.0928133770377734e-39 2.246631 348 0.009017647 846 0.04104279656501182 1.287457 46 57 0.003908241 GO Biological Process mitochondrial transmembrane transport 518 4.568069e-40 1.160448261988417e-38 2.136309 382 0.009898681 650 0.014677945394461536 1.268573 66 83 0.005607477 GO Biological Process actin polymerization or depolymerization 534 2.949852e-39 7.26912031235955e-38 2.259413 330 0.008551217 527 0.00421926230796964 1.409824 38 43 0.003228547 GO Cellular Component PcG protein complex 46 1.255603e-87 4.716699965217391e-86 2.934291 468 0.01212718 168 0.02889346628571429 1.317879 38 46 0.003228547 GO Cellular Component melanosome 48 4.118242e-86 1.48256712e-84 2.230391 761 0.01971962 69 0.00004191634643478261 1.337036 88 105 0.007476636 GO Cellular Component histone methyltransferase complex 72 1.82232e-61 4.3735679999999995e-60 2.412335 459 0.01189396 68 0.00004122166870588235 1.410362 61 69 0.005182668 GO Cellular Component methyltransferase complex 80 2.080591e-55 4.4940765599999994e-54 2.212154 494 0.01280091 88 0.00021936096 1.332361 76 91 0.006457094 GO Cellular Component ficolin-1-rich granule lumen 87 2.216678e-51 4.402781131034482e-50 2.030107 559 0.01448524 99 0.00047694493090909095 1.273689 99 124 0.008411215 GO Cellular Component intrinsic component of mitochondrial membrane 113 6.872104e-39 1.0508845762831858e-37 2.236645 334 0.008654868 97 0.0004561023934020618 1.374436 56 65 0.004757859 GO Cellular Component integral component of mitochondrial membrane 120 5.44853e-37 7.8458832e-36 2.205037 327 0.008473478 103 0.0005945383642718447 1.370984 55 64 0.004672897 GO Cellular Component outer mitochondrial membrane protein complex 123 1.405681e-36 1.974810380487805e-35 4.514613 109 0.002824493 141 0.011069594961702128 1.595327 15 15 0.001274427 GO Cellular Component cytoplasmic stress granule 131 2.255526e-33 2.975228189312977e-32 2.260371 278 0.007203752 83 0.00011416979277108435 1.484025 40 43 0.003398471 GO Cellular Component endoplasmic reticulum tubular network 132 4.06239e-33 5.318037818181819e-32 3.038656 162 0.00419787 163 0.02762496353374233 1.506698 17 18 0.00144435 GO Cellular Component podosome 137 1.454382e-32 1.8344321868613138e-31 2.348747 250 0.006478194 185 0.047682179805405414 1.375282 25 29 0.002124044 GO Cellular Component mitochondrial intermembrane space 144 5.691812e-30 6.8301744e-29 2.057141 308 0.007981135 132 0.005637529309090909 1.288533 63 78 0.005352591 GO Cellular Component clathrin vesicle coat 214 9.220258e-18 7.445142908411215e-17 2.01142 185 0.004793864 187 0.04743123439572192 1.403888 22 25 0.001869159 GO Cellular Component Cul4-RING E3 ubiquitin ligase complex 236 8.88365e-16 6.504638644067796e-15 2.086999 148 0.003835091 153 0.02084289882352941 1.395911 28 32 0.002378929 GO Cellular Component MLL1 complex 272 2.895228e-13 1.839321317647059e-12 2.106191 119 0.003083621 118 0.0030847113762711865 1.485305 27 29 0.002293968 GO Molecular Function ribonucleoprotein complex binding 24 1.776003e-69 3.1242852774999996e-67 2.304002 571 0.0147962 49 0.000006746363957142857 1.359496 98 115 0.008326253 GO Molecular Function RNA polymerase II core binding 85 1.255149e-32 6.234398915294118e-31 2.463268 228 0.005908113 113 0.011749725120353981 1.481375 26 28 0.002209006 GO Molecular Function ribosomal small subunit binding 101 8.41594e-31 3.5180295722772276e-29 3.184123 140 0.003627789 149 0.04084904009395974 1.595327 14 14 0.001189465 GO Molecular Function ribosome binding 124 5.240126e-26 1.7841783848387096e-24 2.050146 267 0.006918712 78 0.0005893311176923077 1.421291 49 55 0.004163127 GO Molecular Function 1-acylglycerol-3-phosphate O-acyltransferase activity 180 4.178932e-20 9.801917168888889e-19 2.178897 175 0.004534736 151 0.04796795941721854 1.511363 18 19 0.001529312 GO Molecular Function K63-linked polyubiquitin binding 272 4.445134e-15 6.899763142647059e-14 2.188134 126 0.00326501 132 0.02362018050454545 1.519359 20 21 0.001699235 Human Phenotype Hemolytic anemia 4 3.68275e-71 6.143747687499999e-68 2.736212 424 0.01098702 109 0.008847902116513762 1.325694 59 71 0.005012744 Human Phenotype Hematological neoplasm 9 6.152055e-56 4.561407001666667e-53 2.135851 540 0.0139929 15 3.636268064933333e-7 1.463947 78 85 0.006627018 Human Phenotype Lymphoma 26 1.080059e-38 2.7720129642307692e-36 2.467043 272 0.007048276 150 0.025730073704 1.440941 28 31 0.002378929 Human Phenotype Leukemia 41 1.78402e-30 2.903601331707317e-28 2.094822 300 0.007773833 54 0.0007978279579444443 1.44193 47 52 0.003993203 Mouse Phenotype Single KO abnormal erythropoiesis 28 9.133459e-193 2.986967287964285e-190 2.631917 1238 0.03208002 134 0.00008033217425373133 1.334274 92 110 0.007816483 Mouse Phenotype Single KO abnormal T cell activation 35 2.895196e-180 7.574659934857142e-178 2.02841 1977 0.05122956 353 0.020422901198866857 1.142674 207 289 0.01758709 Mouse Phenotype Single KO abnormal T cell proliferation 37 4.15596e-169 1.0285439383783784e-166 2.040666 1830 0.04742038 400 0.030733181249999998 1.143012 187 261 0.01588785 Mouse Phenotype Single KO decreased erythroid progenitor cell number 41 7.552667e-158 1.6868237004634147e-155 3.066487 793 0.02054883 340 0.01694387310205882 1.34508 43 51 0.003653356 Mouse Phenotype Single KO abnormal embryonic hematopoiesis 47 3.733693e-145 7.274346127872341e-143 2.952694 772 0.02000466 378 0.02585767225925926 1.324423 44 53 0.003738318 Mouse Phenotype Single KO decreased erythrocyte cell number 49 2.115482e-144 3.953360953877551e-142 2.093837 1473 0.03816952 93 0.000007903472669784947 1.294494 142 175 0.01206457 Mouse Phenotype Single KO abnormal erythroid progenitor cell morphology 66 6.924718e-119 9.607521625151515e-117 2.305529 982 0.02544635 224 0.0025868901091071427 1.313799 70 85 0.005947324 Mouse Phenotype Single KO abnormal mean corpuscular hemoglobin 69 1.04361e-116 1.3849763434782608e-114 2.107292 1174 0.0304216 176 0.0007043959815909092 1.239797 136 175 0.0115548 Mouse Phenotype Single KO abnormal megakaryocyte progenitor cell morphology 74 2.897807e-110 3.58584036472973e-108 2.357609 870 0.02254412 384 0.027225334859375002 1.250881 69 88 0.005862362 Mouse Phenotype Single KO abnormal platelet physiology 84 4.666497e-103 5.087037265357143e-101 2.273263 876 0.02269959 349 0.019765248063323783 1.232753 85 110 0.00722175 Mouse Phenotype Single KO abnormal iron level 110 2.903233e-82 2.416809507363636e-80 2.238303 721 0.01868311 274 0.007021938506934306 1.246768 93 119 0.007901444 Mouse Phenotype Single KO abnormal liver sinusoid morphology 112 3.488144e-81 2.8518691614285715e-79 2.562965 544 0.01409655 416 0.034670669237980775 1.281096 53 66 0.004502974 Mouse Phenotype Single KO abnormal iron homeostasis 126 7.863019e-76 5.714417855793651e-74 2.138283 735 0.01904589 313 0.01136774262140575 1.232163 95 123 0.008071368 Mouse Phenotype Single KO polychromatophilia 132 5.100344e-73 3.5381704551515148e-71 3.646907 286 0.007411054 389 0.028585376298200516 1.430293 26 29 0.002209006 Mouse Phenotype Single KO increased circulating interferon-gamma level 134 9.865446e-73 6.7416335091044776e-71 3.309822 324 0.00839574 205 0.0015361470521951222 1.446925 39 43 0.003313509 Mouse Phenotype Single KO pale liver 145 1.18686e-69 7.495225531034483e-68 2.375202 538 0.01394107 148 0.00016457777105405405 1.37597 69 80 0.005862362 Mouse Phenotype Single KO enlarged liver sinusoidal spaces 161 4.4562e-66 2.534498347826087e-64 2.823566 373 0.009665466 397 0.030553910486146092 1.379742 32 37 0.002718777 Mouse Phenotype Single KO abnormal erythrocyte physiology 196 4.62661e-59 2.1615238658163264e-57 2.820186 333 0.008628955 309 0.01036301542459547 1.382617 39 45 0.003313509 Mouse Phenotype Single KO increased nucleated erythrocyte cell number 208 6.632158e-56 2.91974378875e-54 2.321031 450 0.01166075 327 0.013653129004587155 1.377782 38 44 0.003228547 Mouse Phenotype Single KO abnormal reticulocyte morphology 220 9.448777e-54 3.932838681318182e-52 2.081168 551 0.01427794 164 0.00038691870545731706 1.358982 69 81 0.005862362 Mouse Phenotype abnormal erythropoiesis 38 2.945072e-205 7.409956155789474e-203 2.488571 1457 0.03775492 162 0.000005248641971111111 1.316948 123 149 0.0104503 Mouse Phenotype decreased erythrocyte cell number 49 1.094516e-165 2.1356464236734695e-163 2.030247 1816 0.0470576 110 2.3447518085454547e-7 1.284549 186 231 0.01580289 Mouse Phenotype decreased erythroid progenitor cell number 55 3.039753e-155 5.284196078727273e-153 2.721468 942 0.02440984 390 0.006884660364615384 1.301451 62 76 0.00526763 Mouse Phenotype abnormal platelet physiology 64 1.856213e-146 2.77300820203125e-144 2.449622 1073 0.02780441 513 0.017398205748538013 1.208581 100 132 0.008496177 Mouse Phenotype abnormal embryonic erythrocyte morphology 69 4.714374e-142 6.532482581739131e-140 3.690689 554 0.01435568 467 0.013824890712205568 1.390798 34 39 0.0028887 Mouse Phenotype extramedullary hematopoiesis 78 1.041806e-132 1.2770137392307691e-130 2.150375 1274 0.03301288 374 0.005537915262032085 1.203332 132 175 0.01121495 Mouse Phenotype abnormal embryonic hematopoiesis 79 6.461237e-132 7.819732526202532e-130 2.701714 810 0.02098935 501 0.016836338943113774 1.307645 50 61 0.004248088 Mouse Phenotype abnormal erythroid progenitor cell morphology 83 7.149902e-131 8.236170243614457e-129 2.230592 1159 0.03003291 372 0.0054002609830645166 1.246768 93 119 0.007901444 Mouse Phenotype abnormal megakaryocyte progenitor cell morphology 87 3.193554e-128 3.509605723448276e-126 2.298458 1066 0.02762302 409 0.009083335712713936 1.232163 95 123 0.008071368 Mouse Phenotype abnormal mean corpuscular hemoglobin 91 1.05144e-123 1.1047052571428572e-121 2.090354 1268 0.0328574 219 0.00016501561284931504 1.248517 144 184 0.01223449 Mouse Phenotype abnormal spleen B cell follicle morphology 92 6.547993e-123 6.804930551413042e-121 2.059684 1305 0.03381617 276 0.0007286801833695652 1.22336 148 193 0.01257434 Mouse Phenotype increased circulating interferon-gamma level 102 3.663322e-108 3.4338256511764703e-106 3.72266 416 0.01077972 234 0.00026379669296153847 1.44193 47 52 0.003993203 Mouse Phenotype decreased mean corpuscular volume 115 2.439122e-96 2.0278648210434782e-94 2.330901 777 0.02013423 363 0.0046885669024793394 1.264221 84 106 0.007136788 Mouse Phenotype abnormal proerythroblast morphology 119 4.121675e-93 3.311540728991597e-91 2.306665 767 0.0198751 271 0.0006224764902952029 1.349892 66 78 0.005607477 Mouse Phenotype poikilocytosis 137 9.62342e-87 6.716023256934307e-85 3.859069 318 0.008240263 467 0.013824890712205568 1.390798 34 39 0.0028887 Mouse Phenotype abnormal iron homeostasis 141 1.213588e-85 8.229159480851063e-84 2.133248 836 0.02166308 471 0.013995527805732485 1.207891 106 140 0.009005947 Mouse Phenotype abnormal reticulocyte cell number 143 1.854682e-85 1.2400429791608392e-83 2.211872 769 0.01992693 137 7.380401095620438e-7 1.390423 95 109 0.008071368 Mouse Phenotype reticulocytosis 145 5.892064e-85 3.8851050968275864e-83 2.319581 691 0.01790573 180 0.000028528329578333332 1.365074 83 97 0.007051827 Mouse Phenotype abnormal iron level 146 7.764951e-85 5.0849792130821914e-83 2.169321 797 0.02065248 439 0.010994503162414578 1.217175 103 135 0.008751062 Mouse Phenotype abnormal circulating tumor necrosis factor level 154 6.438298e-83 3.997179686883117e-81 2.144934 799 0.02070431 331 0.002799780559123867 1.234739 113 146 0.00960068