# 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 109 1.806137e-53 2.180454750733945e-51 2.029274 577 0.03108166 948 0.03544801402531646 1.168796 154 248 0.01543705 GO Biological Process negative regulation of G0 to G1 transition 307 4.219057e-24 1.8084225101954395e-22 2.552397 154 0.008295626 594 0.005490473122727272 1.535493 31 38 0.003107458 GO Biological Process regulation of G0 to G1 transition 337 1.771722e-22 6.918127536498516e-21 2.427969 157 0.008457229 563 0.0038571413046181173 1.5237 34 42 0.00340818 GO Biological Process organelle transport along microtubule 387 8.417506e-21 2.8621695466149867e-19 2.062194 206 0.01109675 538 0.003110579697583643 1.425922 50 66 0.005012029 GO Biological Process positive regulation of histone methylation 420 2.883659e-19 9.034778281190476e-18 2.323512 145 0.007810817 702 0.010862508940313391 1.539996 27 33 0.002706496 GO Biological Process vesicle cytoskeletal trafficking 491 2.344791e-17 6.284135390835031e-16 2.208963 144 0.007756949 494 0.0018281444419230772 1.539996 36 44 0.003608661 GO Biological Process negative regulation of extrinsic apoptotic signaling pathway via death domain receptors 563 9.255953e-16 2.1633940590941383e-14 2.315005 117 0.006302521 907 0.02929576418302095 1.463947 28 36 0.002806736 GO Biological Process regulation of early endosome to late endosome transport 607 1.078328e-14 2.3376800909390443e-13 2.73844 79 0.004255548 955 0.035816979164397904 1.66078 15 17 0.001503609 GO Biological Process gene silencing by miRNA 625 2.682531e-14 5.64790806864e-13 2.136877 125 0.006733463 934 0.03386305219164882 1.411663 33 44 0.003307939 GO Biological Process chemical homeostasis within a tissue 635 3.798913e-14 7.872424593228347e-13 2.95242 67 0.003609136 876 0.026859787275114157 1.882217 10 10 0.001002406 GO Biological Process vesicle transport along microtubule 647 5.913848e-14 1.202787107140649e-12 2.198536 114 0.006140918 651 0.007772697883717359 1.526122 30 37 0.003007217 GO Biological Process membrane protein proteolysis 684 1.680014e-13 3.232062021345029e-12 2.28496 101 0.005440638 704 0.011090365947301136 1.516231 29 36 0.002906977 GO Biological Process sarcomere organization 686 1.778993e-13 3.4125027532069972e-12 2.143929 116 0.006248653 970 0.03812399704639175 1.436429 29 38 0.002906977 GO Biological Process peptidyl-lysine trimethylation 713 5.950654e-13 1.0982420194389901e-11 2.300087 95 0.005117432 919 0.030618701988030468 1.533659 22 27 0.002205293 GO Biological Process coronary vasculature morphogenesis 812 1.517229e-11 2.4587704939655176e-10 2.14492 97 0.005225167 503 0.0019745325413717692 1.882217 15 15 0.001503609 GO Biological Process response to laminar fluid shear stress 853 5.067601e-11 7.817650827549824e-10 2.244944 83 0.004471019 890 0.028095529548314607 1.747773 13 14 0.001303128 GO Biological Process coronary artery morphogenesis 908 1.743785e-10 2.5271439223568283e-9 2.368538 70 0.003770739 1031 0.0429735671057226 1.882217 9 9 0.0009021652 GO Biological Process ER-nucleus signaling pathway 956 4.664919e-10 6.4210950963389124e-9 2.048978 92 0.004955828 980 0.040274999357142856 1.451996 27 35 0.002706496 GO Biological Process leukocyte apoptotic process 1019 1.729053e-9 2.2328369408243376e-8 2.066998 84 0.004524887 1004 0.04269927735856573 1.554875 19 23 0.001904571 GO Biological Process regulation of interferon-gamma-mediated signaling pathway 1248 3.370448e-8 3.5538241371794874e-7 2.096095 68 0.003663004 912 0.02960206508114035 1.568514 20 24 0.002004812 GO Cellular Component endoplasmic reticulum tubular network 107 1.96344e-15 3.170863850467289e-14 2.924437 75 0.004040078 81 0.004073288533333333 1.77765 17 18 0.00170409 GO Cellular Component podosome 157 5.897484e-11 6.49098875923567e-10 2.031159 104 0.005602241 80 0.003993861600000001 1.622601 25 29 0.002506014 GO Molecular Function RNA polymerase II core binding 74 3.496539e-15 1.994917251081081e-13 2.380659 106 0.005709976 83 0.015389500291566266 1.613329 24 28 0.002405774 Human Phenotype Gastrointestinal hemorrhage 125 4.987183e-8 0.00000266235777272 2.026047 72 0.003878474 113 0.04708174125044248 1.592645 22 26 0.002205293 Mouse Phenotype Single KO abnormal embryonic hematopoiesis 69 5.5957e-57 7.426061579710146e-55 2.711252 341 0.01836889 343 0.0005350189489504374 1.527082 43 53 0.004310345 Mouse Phenotype Single KO abnormal erythropoiesis 79 1.312006e-53 1.5207644230379747e-51 2.174358 492 0.02650291 498 0.0040644723566265065 1.317552 77 110 0.007718524 Mouse Phenotype Single KO decreased T cell proliferation 82 1.753575e-53 1.958230033536585e-51 2.071477 549 0.02957337 577 0.007996125689254766 1.254812 100 150 0.01002406 Mouse Phenotype Single KO decreased erythroid progenitor cell number 85 6.347001e-52 6.837586842e-50 2.628635 327 0.01761474 880 0.03730984270681818 1.36553 37 51 0.003708901 Mouse Phenotype Single KO enlarged lymph nodes 110 7.009733e-42 5.835284098272727e-40 2.024146 452 0.0243482 393 0.0012807143301781171 1.316137 93 133 0.009322374 Mouse Phenotype Single KO abnormal erythroid progenitor cell morphology 115 1.268795e-38 1.0102918100000002e-36 2.02545 415 0.0223551 455 0.002832515690989011 1.372911 62 85 0.006214916 Mouse Phenotype Single KO abnormal platelet activation 116 1.326912e-38 1.0474597572413792e-36 2.313104 307 0.01653738 396 0.0012934951587373737 1.395055 63 85 0.006315156 Mouse Phenotype Single KO abnormal platelet aggregation 120 7.7529e-38 5.916108775e-36 2.326862 297 0.01599871 369 0.0008586925877777778 1.423728 59 78 0.005914194 Mouse Phenotype Single KO increased interleukin-1 beta secretion 130 3.396712e-36 2.392591675692308e-34 3.277187 159 0.008564964 451 0.002698379074944568 1.597033 28 33 0.002806736 Mouse Phenotype Single KO abnormal iron level 170 1.454417e-30 7.834174393529411e-29 2.045773 317 0.01707606 288 0.0001876721744826389 1.376075 87 119 0.00872093 Mouse Phenotype Single KO decreased platelet aggregation 182 2.573728e-29 1.2949245767032967e-27 2.408049 212 0.01141995 814 0.028912080062653563 1.348922 43 60 0.004310345 Mouse Phenotype Single KO spleen hyperplasia 219 6.60216e-26 2.7605469917808214e-24 2.06508 260 0.0140056 590 0.008848834357288135 1.351336 56 78 0.005613472 Mouse Phenotype Single KO decreased mean corpuscular volume 228 3.007958e-25 1.2080645353508771e-23 2.026471 265 0.01427494 854 0.0354321965913349 1.275725 61 90 0.006114675 Mouse Phenotype Single KO increased nucleated erythrocyte cell number 249 2.057449e-23 7.566289354618474e-22 2.187324 204 0.01098901 803 0.0274086571369863 1.411663 33 44 0.003307939 Mouse Phenotype Single KO impaired natural killer cell mediated cytotoxicity 257 8.979767e-23 3.199522428754864e-21 2.097939 218 0.01174316 286 0.00018110391223426572 1.531295 48 59 0.004811548 Mouse Phenotype Single KO abnormal CD4-positive T cell differentiation 268 4.270881e-22 1.4592707954104478e-20 2.054293 222 0.01195863 558 0.007229694373835124 1.419918 43 57 0.004310345 Mouse Phenotype Single KO abnormal nucleated erythrocyte cell number 298 1.359985e-20 4.178987464765101e-19 2.048964 207 0.01115061 740 0.02060740777297297 1.42212 34 45 0.00340818 Mouse Phenotype Single KO increased body temperature 344 7.730507e-19 2.0577980406686048e-17 2.462885 126 0.00678733 595 0.008918270084537817 1.539996 27 33 0.002706496 Mouse Phenotype Single KO increased thymus tumor incidence 351 2.078951e-18 5.423633705698005e-17 2.063406 180 0.009696186 474 0.003216606822362869 1.490089 38 48 0.003809142 Mouse Phenotype Single KO abnormal splenic cell ratio 370 1.376686e-17 3.407111811351351e-16 2.139906 157 0.008457229 764 0.022924237874345547 1.447859 30 39 0.003007217 Mouse Phenotype abnormal CD4-positive, alpha-beta T cell physiology 87 6.687837e-59 7.349702247931034e-57 2.041858 627 0.03377505 1210 0.027459610787603308 1.192071 114 180 0.01142743 Mouse Phenotype abnormal erythropoiesis 95 4.513597e-54 4.542579043894737e-52 2.04161 575 0.03097393 519 0.00042602876479768786 1.313762 104 149 0.01042502 Mouse Phenotype abnormal embryonic hematopoiesis 105 4.903906e-50 4.4653566920000006e-48 2.461485 355 0.01912303 552 0.0005380482195108695 1.481089 48 61 0.004811548 Mouse Phenotype abnormal platelet physiology 106 6.006831e-50 5.418048225566038e-48 2.173598 458 0.02467141 339 0.000013148055930973452 1.397404 98 132 0.009823577 Mouse Phenotype decreased erythroid progenitor cell number 112 1.250868e-47 1.0678168703571428e-45 2.306205 384 0.0206852 1090 0.020349395567889908 1.312599 53 76 0.005312751 Mouse Phenotype abnormal platelet activation 131 9.876195e-43 7.208114533969466e-41 2.337213 334 0.01799181 700 0.002636952483 1.336374 71 100 0.007117081 Mouse Phenotype abnormal platelet aggregation 133 2.014534e-42 1.4481924491729325e-40 2.345913 329 0.01772247 643 0.0015496715631415242 1.361604 68 94 0.006816359 Mouse Phenotype abnormal circulating tumor necrosis factor level 154 1.797063e-38 1.1156960612337662e-36 2.10389 377 0.02030812 1083 0.019745707376731304 1.22473 95 146 0.009522855 Mouse Phenotype increased circulating tumor necrosis factor level 176 2.583136e-35 1.4032592781818182e-33 2.328243 276 0.01486749 1148 0.02437048929616725 1.267616 66 98 0.006615878 Mouse Phenotype increased B cell derived lymphoma incidence 216 3.344196e-31 1.4802712016666665e-29 2.212632 270 0.01454428 831 0.006559748024548736 1.351336 56 78 0.005613472 Mouse Phenotype increased interleukin-1 beta secretion 223 4.546912e-30 1.949463032825112e-28 2.497654 203 0.01093514 976 0.013820856528688525 1.402436 38 51 0.003809142 Mouse Phenotype increased nucleated erythrocyte cell number 261 6.531678e-26 2.3926962972413793e-24 2.243955 215 0.01158156 1167 0.02568218142673522 1.391204 34 46 0.00340818 Mouse Phenotype abnormal nucleated erythrocyte cell number 293 1.067995e-23 3.485017131399317e-22 2.11999 222 0.01195863 987 0.014888879358662614 1.411663 36 48 0.003608661 Mouse Phenotype lymph node hyperplasia 301 4.994499e-23 1.5864586358471762e-21 2.304669 179 0.009642318 1095 0.02098646485205479 1.411663 33 44 0.003307939 Mouse Phenotype interstitial pneumonia 304 8.139143e-23 2.5598140204934213e-21 3.050263 108 0.005817712 509 0.000344365242848723 1.796662 21 22 0.002105052 Mouse Phenotype increased spleen white pulp amount 328 4.448697e-21 1.2967680492987804e-19 2.609504 128 0.006895066 974 0.013622343960985625 1.494702 27 34 0.002706496 Mouse Phenotype increased body temperature 340 2.423748e-20 6.815721949411765e-19 2.39262 145 0.007810817 720 0.0031189708291666667 1.559551 29 35 0.002906977 Mouse Phenotype early cellular replicative senescence 353 6.031064e-20 1.6335128301416431e-18 2.074391 194 0.01045033 534 0.0004809437243820224 1.443893 56 73 0.005613472 Mouse Phenotype increased circulating interleukin-1 beta level 388 9.011086e-19 2.2204895166494846e-17 2.49998 122 0.00657186 1046 0.01845698948948375 1.463947 28 36 0.002806736 Mouse Phenotype microcytic anemia 395 1.312773e-18 3.177575355189873e-17 2.749933 102 0.005494505 886 0.009358272268171559 1.557697 24 29 0.002405774