# 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 54 1.118607e-97 2.725879539444444e-95 2.185612 898 0.03347623 486 0.003342819218106996 1.175837 184 248 0.01553005 GO Biological Process positive regulation of intrinsic apoptotic signaling pathway 277 4.794981e-33 2.2778756310108303e-31 2.445389 234 0.008723206 454 0.0024557914187004403 1.379384 47 54 0.003966914 GO Biological Process positive regulation of actin filament polymerization 283 1.252429e-32 5.82357357279152e-31 2.035625 345 0.01286114 648 0.0163728522183642 1.280886 59 73 0.004979743 GO Biological Process organelle transport along microtubule 315 5.396393e-30 2.2543217614920634e-28 2.078334 300 0.0111836 455 0.002474948768923077 1.3447 56 66 0.004726536 GO Biological Process negative regulation of G0 to G1 transition 456 9.380836e-23 2.7070706342982456e-21 2.213689 193 0.007194781 687 0.02145135358951965 1.376295 33 38 0.00278528 GO Biological Process gene silencing by miRNA 531 5.130275e-20 1.2713613695856873e-18 2.141312 181 0.006747437 762 0.03454717579002625 1.332693 37 44 0.00312289 GO Biological Process vesicle cytoskeletal trafficking 552 1.363415e-19 3.25021340307971e-18 2.059489 194 0.00723206 613 0.012651300878792822 1.368712 38 44 0.003207292 GO Biological Process vesicle transport along microtubule 591 1.842183e-18 4.1017404563451775e-17 2.162099 162 0.006039143 733 0.02793052504365621 1.370659 32 37 0.002700878 GO Biological Process negative regulation of extrinsic apoptotic signaling pathway via death domain receptors 596 2.060165e-18 4.54860926761745e-17 2.177183 159 0.005927307 770 0.03680553501428571 1.36471 31 36 0.002616475 GO Biological Process clathrin coat assembly 620 1.054998e-17 2.239148174516129e-16 2.505785 114 0.004249767 573 0.009110611833158812 1.584824 17 17 0.001434841 GO Biological Process positive regulation of mRNA catabolic process 703 5.527264e-16 1.0346126170128023e-14 2.142517 141 0.005256291 699 0.022152376417739632 1.458038 23 25 0.001941256 GO Biological Process proteasome assembly 719 1.150896e-15 2.106347769680111e-14 3.542967 58 0.002162162 803 0.04108626540224159 1.584824 13 13 0.001097232 GO Biological Process TOR signaling 773 8.083759e-15 1.3761214059637776e-13 2.073344 140 0.005219012 497 0.0041095795291750505 1.521431 24 25 0.002025658 GO Biological Process carbohydrate phosphorylation 780 1.012392e-14 1.7079572215384614e-13 2.422603 99 0.003690587 527 0.005916176533586338 1.51879 23 24 0.001941256 GO Biological Process regulation of growth hormone secretion 1081 2.943611e-11 3.5832541303422754e-10 2.157708 93 0.003466915 803 0.04108626540224159 1.584824 13 13 0.001097232 GO Cellular Component methyltransferase complex 38 9.834557e-53 4.472135393684211e-51 2.448038 380 0.01416589 86 0.002471474009302326 1.288758 74 91 0.00624578 GO Cellular Component histone methyltransferase complex 40 2.593203e-51 1.120263696e-49 2.563132 339 0.01263747 97 0.005904722078350516 1.309203 57 69 0.004810939 GO Cellular Component cytoplasmic stress granule 127 1.162746e-16 1.5820669984251968e-15 2.011915 172 0.006411929 92 0.0038754288 1.400543 38 43 0.003207292 GO Molecular Function ribonucleoprotein complex binding 15 9.387665e-38 2.642314775333333e-35 2.11878 365 0.01360671 83 0.007697931906024097 1.254078 91 115 0.007680621 GO Molecular Function mitogen-activated protein kinase binding 63 3.307173e-18 2.216330858095238e-16 2.370384 131 0.004883504 74 0.003784394264324324 1.526127 26 27 0.002194463 Human Phenotype Epistaxis 2 5.705216e-51 1.9035453183999999e-47 3.103827 246 0.00917055 87 0.009827081656321839 1.426342 36 40 0.003038488 Mouse Phenotype Single KO abnormal T cell activation 27 9.858559e-131 3.3435120282592593e-128 2.050207 1389 0.05178006 178 0.00012405965332584268 1.200957 219 289 0.01848413 Mouse Phenotype Single KO abnormal T cell proliferation 33 3.618666e-112 1.0041249867272728e-109 2.010102 1253 0.04671016 237 0.0008381529602531645 1.190136 196 261 0.01654288 Mouse Phenotype Single KO decreased T cell proliferation 42 3.754493e-93 8.185688666904762e-91 2.201239 843 0.03142591 323 0.003561820686377709 1.225598 116 150 0.009790682 Mouse Phenotype Single KO abnormal erythropoiesis 46 1.185165e-88 2.359251283695652e-86 2.278526 745 0.0277726 148 0.00003523615456148649 1.339897 93 110 0.007849426 Mouse Phenotype Single KO decreased erythroid progenitor cell number 61 2.365651e-77 3.5511911814754095e-75 2.670272 480 0.01789376 175 0.00010930909737714285 1.460524 47 51 0.003966914 Mouse Phenotype Single KO abnormal embryonic erythrocyte morphology 68 1.65495e-69 2.2285848750000002e-67 3.363514 302 0.01125815 607 0.044805668655683695 1.358421 30 35 0.002532073 Mouse Phenotype Single KO abnormal embryonic hematopoiesis 78 4.136743e-65 4.856430211666666e-63 2.498062 454 0.01692451 502 0.023736293836653388 1.315703 44 53 0.003713707 Mouse Phenotype Single KO abnormal platelet activation 92 5.975589e-60 5.9476596166304345e-58 2.382894 457 0.01703635 304 0.0025844768006907893 1.30515 70 85 0.00590817 Mouse Phenotype Single KO abnormal platelet aggregation 97 2.235352e-56 2.1102183777319587e-54 2.363919 436 0.01625349 295 0.0023183177324745765 1.320687 65 78 0.005486158 Mouse Phenotype Single KO abnormal platelet physiology 100 9.983259e-56 9.141670266299999e-54 2.094376 561 0.02091333 189 0.0002536249173809524 1.311082 91 110 0.007680621 Mouse Phenotype Single KO decreased platelet aggregation 104 1.91212e-54 1.6835848884615383e-52 2.656917 338 0.01260019 513 0.025678209339181284 1.294273 49 60 0.004135719 Mouse Phenotype Single KO abnormal erythroid progenitor cell morphology 105 2.051801e-54 1.7893658816190477e-52 2.019791 598 0.02229264 207 0.00041828649583091785 1.34244 72 85 0.006076975 Mouse Phenotype Single KO abnormal megakaryocyte progenitor cell morphology 123 5.555054e-47 4.135579632357724e-45 2.015531 517 0.01927307 616 0.04678480763961039 1.224637 68 88 0.005739365 Mouse Phenotype Single KO pale liver 147 5.976292e-41 3.72278271047619e-39 2.235667 352 0.01312209 379 0.007997564337730871 1.28767 65 80 0.005486158 Mouse Phenotype Single KO abnormal liver sinusoid morphology 182 4.718235e-35 2.3738943898351647e-33 2.168902 320 0.01192917 547 0.032709239250457045 1.272662 53 66 0.004473329 Mouse Phenotype Single KO increased circulating interferon-gamma level 195 4.568817e-33 2.1454696035384613e-31 2.762891 188 0.007008388 452 0.01648776600663717 1.363686 37 43 0.00312289 Mouse Phenotype Single KO increased body temperature 198 1.337289e-32 6.184623925757576e-31 2.664843 197 0.007343896 522 0.026623047766283523 1.392725 29 33 0.00244767 Mouse Phenotype Single KO increased susceptibility to weight loss 226 2.780153e-29 1.1264540274778761e-27 2.597341 184 0.006859273 308 0.0026470392609415586 1.430207 37 41 0.00312289 Mouse Phenotype Single KO impaired natural killer cell mediated cytotoxicity 233 1.40217e-28 5.510588278969957e-27 2.024612 304 0.01133271 433 0.01438990828290993 1.31621 49 59 0.004135719 Mouse Phenotype Single KO abnormal neural fold formation 271 6.686188e-26 2.2592407201476015e-24 2.18668 228 0.008499534 554 0.033135711935018054 1.415022 25 28 0.002110061 Mouse Phenotype abnormal erythropoiesis 45 3.760108e-101 7.988976130666666e-99 2.216375 902 0.03362535 162 0.0000010330135235185183 1.329551 125 149 0.0105503 Mouse Phenotype decreased erythroid progenitor cell number 68 8.440208e-80 1.1867180689411766e-77 2.435545 586 0.02184529 393 0.0010654206686259542 1.334589 64 76 0.005401756 Mouse Phenotype abnormal platelet physiology 74 4.050518e-74 5.233378729459459e-72 2.200495 670 0.0249767 237 0.000030123753948101267 1.308681 109 132 0.009199865 Mouse Phenotype abnormal platelet activation 86 5.875102e-66 6.531610490930232e-64 2.401957 496 0.01849021 361 0.0007804877365927978 1.299556 82 100 0.006920999 Mouse Phenotype abnormal embryonic erythrocyte morphology 87 1.1807e-65 1.2975485862068966e-63 3.086028 322 0.01200373 660 0.011638638618636364 1.381642 34 39 0.002869683 Mouse Phenotype abnormal platelet aggregation 89 3.117336e-65 3.3488594939325845e-63 2.408062 488 0.01819199 294 0.00021344073961224492 1.331927 79 94 0.006667792 Mouse Phenotype abnormal erythroid progenitor cell morphology 91 1.969375e-64 2.0691422390109892e-62 2.004571 724 0.02698975 478 0.0026734696223849374 1.251878 94 119 0.007933828 Mouse Phenotype decreased platelet aggregation 99 2.27646e-60 2.1985084909090913e-58 2.65237 377 0.01405405 569 0.006742064333567662 1.298676 59 72 0.004979743 Mouse Phenotype abnormal embryonic hematopoiesis 106 3.668898e-59 3.309276771509434e-57 2.308053 481 0.01793103 465 0.0024455495903225807 1.350998 52 61 0.004388926 Mouse Phenotype increased circulating interferon-gamma level 124 5.985157e-53 4.6148456513709677e-51 3.179826 247 0.009207829 493 0.003164380703853955 1.371483 45 52 0.003798109 Mouse Phenotype abnormal circulating tumor necrosis factor level 139 5.225072e-49 3.5940225461870503e-47 2.035279 527 0.01964585 607 0.008939895703294894 1.204901 111 146 0.00936867 Mouse Phenotype abnormal proerythroblast morphology 149 5.98351e-47 3.8394858463087246e-45 2.076714 480 0.01789376 295 0.00022872358967796608 1.361324 67 78 0.005654963 Mouse Phenotype increased circulating tumor necrosis factor level 203 3.069018e-37 1.4454621230541872e-35 2.113293 362 0.01349487 754 0.019498137855437667 1.229048 76 98 0.006414585 Mouse Phenotype abnormal liver sinusoid morphology 214 5.246532e-36 2.344023011775701e-34 2.007879 396 0.01476235 424 0.0016841439925471698 1.320687 65 78 0.005486158 Mouse Phenotype increased susceptibility to weight loss 237 1.054249e-32 4.253027294936709e-31 2.410628 238 0.008872321 404 0.0013441459645544553 1.398375 45 51 0.003798109 Mouse Phenotype increased B cell proliferation 252 7.812676e-32 2.9641664776190476e-30 2.012343 346 0.01289842 886 0.03609524618397291 1.232641 63 81 0.005317353 Mouse Phenotype increased body temperature 262 1.00658e-30 3.6732486183206105e-29 2.455138 215 0.008014911 652 0.011148089339723926 1.403702 31 35 0.002616475 Mouse Phenotype enlarged liver sinusoidal spaces 326 1.125713e-25 3.301515948773006e-24 2.148867 235 0.008760485 970 0.04770056825257732 1.314245 34 41 0.002869683 Mouse Phenotype abnormal neural fold formation 349 4.033231e-24 1.1049203894269342e-22 2.095906 233 0.008685927 933 0.04180758862700964 1.351762 29 34 0.00244767 Mouse Phenotype decreased inguinal fat pad weight 446 1.445533e-19 3.0988208549327356e-18 2.067036 192 0.007157502 546 0.00563853671043956 1.440749 30 33 0.002532073