# 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 intrinsic apoptotic signaling pathway 152 1.959879e-82 1.696713668486842e-80 2.072891 861 0.02150135 434 0.00046781700373271887 1.185122 137 155 0.009782919 GO Biological Process endoplasmic reticulum unfolded protein response 190 8.206584e-70 5.6837073082105265e-68 2.265012 595 0.01485866 528 0.0014554492012121211 1.199691 102 114 0.007283633 GO Biological Process cellular response to topologically incorrect protein 202 1.872107e-65 1.2195572283663368e-63 2.076749 678 0.01693138 489 0.0009929837911042945 1.186491 123 139 0.008783205 GO Biological Process cellular response to unfolded protein 216 1.091068e-61 6.64692769074074e-60 2.101993 620 0.01548297 433 0.00046478013464203226 1.207856 109 121 0.00778349 GO Biological Process erythrocyte homeostasis 278 1.331276e-51 6.301532692086331e-50 2.05806 543 0.01356008 658 0.005384624802887538 1.218937 70 77 0.004998572 GO Biological Process erythrocyte differentiation 323 3.007912e-46 1.2254214863157896e-44 2.047564 491 0.01226151 850 0.02056969984588235 1.204805 62 69 0.004427306 GO Biological Process gene silencing by miRNA 390 2.904475e-39 9.799996544871794e-38 2.369599 299 0.007466787 876 0.024058632747716892 1.249411 41 44 0.002927735 GO Biological Process positive regulation of mRNA metabolic process 402 1.361362e-38 4.456259342786069e-37 2.173897 353 0.008815303 496 0.0010718477738306453 1.289261 50 52 0.003570408 GO Biological Process posttranscriptional gene silencing by RNA 430 7.183252e-37 2.198242164372093e-35 2.201841 327 0.008166017 674 0.006088901632492581 1.261959 48 51 0.003427592 GO Biological Process negative regulation of G0 to G1 transition 439 3.189399e-36 9.560205339635536e-35 2.282013 297 0.007416841 629 0.0041734573939586645 1.305546 37 38 0.002642102 GO Biological Process posttranscriptional gene silencing 449 7.218352e-36 2.115507660757238e-34 2.173642 327 0.008166017 821 0.017718473289890378 1.23769 48 52 0.003427592 GO Biological Process positive regulation of mRNA catabolic process 478 9.835281e-34 2.7075829012343097e-32 2.442974 240 0.005993407 762 0.011234351190157482 1.340831 25 25 0.001785204 GO Biological Process regulation of G0 to G1 transition 491 5.592684e-33 1.498862092790224e-31 2.165133 302 0.007541704 965 0.034448134741968915 1.245058 39 42 0.002784919 GO Biological Process organic cation transport 524 8.762866e-32 2.2005830857633586e-30 3.180292 145 0.003621017 829 0.01858093658021713 1.340831 23 23 0.001642388 GO Biological Process regulation of interleukin-4 production 531 2.291759e-31 5.6793327082862524e-30 2.208222 274 0.006842473 723 0.00882659490594744 1.340831 26 26 0.001856612 GO Biological Process cytoplasmic translation 539 4.080746e-31 9.962622748423006e-30 2.662906 188 0.004694836 917 0.02888549740567067 1.247285 40 43 0.002856327 GO Biological Process positive regulation of intrinsic apoptotic signaling pathway 594 4.926787e-29 1.0914409113299664e-27 2.065173 295 0.007366896 467 0.0006793123825910065 1.291171 52 54 0.003713225 GO Biological Process regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway 653 6.645252e-27 1.339125131209801e-25 2.247037 224 0.005593847 840 0.02026288615 1.297579 30 31 0.002142245 GO Biological Process regulation of collagen metabolic process 655 8.226827e-27 1.6527758243206107e-25 2.020834 286 0.007142144 942 0.031146472939490445 1.266341 34 36 0.002427878 GO Biological Process regulation of mRNA catabolic process 738 2.013136e-24 3.5895469680216804e-23 2.002015 265 0.006617721 840 0.02026288615 1.297579 30 31 0.002142245 GO Cellular Component PcG protein complex 43 2.829478e-77 1.137055345116279e-75 2.755312 456 0.01138747 110 0.002935694487272727 1.282534 44 46 0.003141959 GO Cellular Component melanosome 54 2.132666e-65 6.8245312e-64 2.028006 718 0.01793028 54 0.000003868272 1.264212 99 105 0.007069409 GO Cellular Component cytoplasmic stress granule 125 2.580155e-25 3.5668062719999996e-24 2.045144 261 0.00651783 139 0.025023913899280575 1.247285 40 43 0.002856327 GO Molecular Function mitogen-activated protein kinase binding 53 1.26043e-36 1.0040632943396226e-34 2.678811 221 0.005518929 109 0.014002995071559632 1.340831 27 27 0.001928021 Human Phenotype Hematological neoplasm 8 3.309874e-48 2.7608486502500003e-45 2.020234 530 0.01323544 83 0.0010049095813253013 1.246184 79 85 0.005641245 Human Phenotype Lymphoma 24 3.080525e-30 8.565143052083333e-28 2.237672 256 0.006392968 250 0.034525408008 1.297579 30 31 0.002142245 Mouse Phenotype Single KO abnormal erythropoiesis 56 3.441868e-114 5.628068799285714e-112 2.179926 1064 0.02657077 381 0.0029572375278215223 1.194559 98 110 0.006998001 Mouse Phenotype Single KO decreased T cell proliferation 71 2.904987e-100 3.746614923802817e-98 2.001096 1144 0.02856857 482 0.008952802699585061 1.153115 129 150 0.009211654 Mouse Phenotype Single KO abnormal platelet physiology 116 2.519656e-70 1.9890077579310346e-68 2.00071 800 0.01997802 674 0.02611837252225519 1.157991 95 110 0.006783776 Mouse Phenotype Single KO decreased mean corpuscular hemoglobin 134 1.50593e-63 1.0290896276119403e-61 2.33538 507 0.01266107 614 0.019815673431596088 1.204805 62 69 0.004427306 Mouse Phenotype Single KO abnormal circulating tumor necrosis factor level 137 2.652691e-62 1.7730431742335766e-60 2.166461 584 0.01458396 816 0.046222448742647054 1.149284 90 105 0.006426735 Mouse Phenotype Single KO decreased mean corpuscular volume 147 1.981266e-58 1.2341804600000001e-56 2.095155 591 0.01475877 509 0.011124085511591355 1.19185 80 90 0.005712654 Mouse Phenotype Single KO increased circulating interferon-gamma level 168 4.05957e-53 2.2127072910714285e-51 2.864845 291 0.007267006 468 0.007776648775213675 1.278467 41 43 0.002927735 Mouse Phenotype Single KO abnormal platelet volume 174 3.658292e-52 1.9252287266666666e-50 2.30538 425 0.01061333 625 0.020615483752 1.223214 52 57 0.003713225 Mouse Phenotype Single KO pale liver 198 1.770403e-48 8.187666803535354e-47 2.089047 491 0.01226151 623 0.02047674229695024 1.189988 71 80 0.00506998 Mouse Phenotype Single KO decreased T cell apoptosis 306 1.427992e-34 4.2732427267973854e-33 2.240974 294 0.007341924 652 0.023651196774539876 1.296137 29 30 0.002070837 Mouse Phenotype Single KO abnormal parathyroid gland morphology 371 1.673722e-29 4.131070715363881e-28 2.668647 177 0.004420138 793 0.04375452474148803 1.340831 19 19 0.001356755 Mouse Phenotype Single KO increased susceptibility to weight loss 375 2.779606e-29 6.787427237866667e-28 2.269471 240 0.005993407 514 0.011654033731712062 1.275425 39 41 0.002784919 Mouse Phenotype Single KO microcytosis 406 7.580274e-28 1.709669187635468e-26 2.924341 143 0.003571072 690 0.02795060119275362 1.340831 21 21 0.001499572 Mouse Phenotype Single KO brain inflammation 428 9.288675e-27 1.9872989947429908e-25 2.952355 135 0.003371292 793 0.04375452474148803 1.340831 19 19 0.001356755 Mouse Phenotype Single KO abnormal B-2 B cell morphology 491 1.718068e-23 3.2041443331975556e-22 2.492276 157 0.003920687 690 0.02795060119275362 1.340831 21 21 0.001499572 Mouse Phenotype Single KO decreased transitional stage B cell number 554 3.417719e-21 5.649107018592058e-20 2.039005 217 0.005419039 740 0.03512586839594595 1.264212 33 35 0.00235647 Mouse Phenotype Single KO paresis 644 9.118763e-19 1.2965918135248447e-17 2.079513 181 0.004520028 735 0.035195309484353746 1.340831 20 20 0.001428163 Mouse Phenotype Single KO abnormal thymocyte activation 700 3.44039e-17 4.500521604285715e-16 2.174186 148 0.003695934 793 0.04375452474148803 1.340831 19 19 0.001356755 Mouse Phenotype abnormal erythropoiesis 63 7.703981e-123 1.1691708308095238e-120 2.085526 1267 0.0316402 400 0.00039994738612499997 1.18785 132 149 0.009425878 Mouse Phenotype abnormal platelet physiology 97 2.788323e-99 2.7483666188659795e-97 2.134124 970 0.02422335 648 0.0044977511305555554 1.168148 115 132 0.008211939 Mouse Phenotype increased circulating interferon-gamma level 122 2.477439e-83 1.941540514672131e-81 3.268495 379 0.009464589 465 0.0008306962790967741 1.289261 50 52 0.003570408 Mouse Phenotype abnormal circulating tumor necrosis factor level 123 2.966227e-83 2.3056988899999998e-81 2.124021 821 0.02050245 922 0.018036328747288503 1.138788 124 146 0.008854613 Mouse Phenotype abnormal platelet aggregation 130 4.859101e-79 3.573681896999999e-77 2.254418 682 0.01703127 1115 0.040147590812556054 1.155397 81 94 0.005784062 Mouse Phenotype increased circulating tumor necrosis factor level 146 8.926946e-74 5.845926760684932e-72 2.32686 595 0.01485866 816 0.012181674786764707 1.176648 86 98 0.006141103 Mouse Phenotype decreased platelet aggregation 168 1.02462e-65 5.831185607142857e-64 2.380052 505 0.01261113 1165 0.04688338525493562 1.173227 63 72 0.004498715 Mouse Phenotype decreased mean corpuscular volume 172 8.989289e-64 4.99689489122093e-62 2.026607 701 0.01750574 436 0.0006292278302752293 1.214338 96 106 0.006855184 Mouse Phenotype decreased mean corpuscular hemoglobin 194 9.465715e-59 4.665036139948454e-57 2.132769 570 0.01423434 632 0.004073284024841772 1.218937 70 77 0.004998572 Mouse Phenotype abnormal platelet volume 272 7.556588e-45 2.6561962451470587e-43 2.120895 437 0.010913 1020 0.026776274141176473 1.196434 58 65 0.004141674 Mouse Phenotype increased susceptibility to weight loss 284 3.114887e-43 1.0486420636267607e-41 2.327285 343 0.008565578 485 0.0010299736086185568 1.28825 49 51 0.003499 Mouse Phenotype microcytic anemia 287 1.404735e-42 4.679676423344948e-41 2.874643 230 0.005743682 961 0.021792583295525494 1.294596 28 29 0.001999429 Mouse Phenotype microcytosis 338 3.446953e-37 9.750389832248522e-36 3.169115 172 0.004295275 787 0.010601619482973317 1.340831 24 24 0.001713796 Mouse Phenotype increased liver iron level 370 1.112544e-34 2.8748738335135134e-33 2.502473 236 0.005893517 1005 0.02700491606865672 1.264212 33 35 0.00235647 Mouse Phenotype hypochromic anemia 373 2.248253e-34 5.762881215281501e-33 2.586387 220 0.005493957 1014 0.02683746298816568 1.292944 27 28 0.001928021 Mouse Phenotype abnormal platelet dense granule morphology 382 5.945932e-34 1.4881951793717277e-32 2.336993 264 0.006592748 907 0.017751846506063946 1.296137 29 30 0.002070837 Mouse Phenotype increased body temperature 384 9.125233e-34 2.272040435234375e-32 2.226039 291 0.007267006 1005 0.02700491606865672 1.264212 33 35 0.00235647 Mouse Phenotype ruffled hair 397 1.227104e-32 2.9552497088161207e-31 2.380106 244 0.006093297 1005 0.02700491606865672 1.264212 33 35 0.00235647 Mouse Phenotype abnormal liver iron level 428 8.241703e-31 1.841096317359813e-29 2.254267 257 0.00641794 987 0.024471258413373862 1.245058 39 42 0.002784919 Mouse Phenotype small intestinal inflammation 434 2.079216e-30 4.580503266359447e-29 2.070261 308 0.007691539 948 0.020301179914556964 1.247285 40 43 0.002856327