# 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 cysteine-type endopeptidase activity 68 7.978213e-25 1.5439015421617646e-22 2.139062 224 0.04425128 820 0.030234471446341463 1.337486 80 231 0.01645413 GO Biological Process regulation of cysteine-type endopeptidase activity involved in apoptotic process 89 6.603066e-22 9.762892752134831e-20 2.112336 202 0.03990518 582 0.0071770158228522335 1.426844 75 203 0.01542575 GO Biological Process positive regulation of leukocyte differentiation 100 6.467407e-21 8.5104608713e-19 2.175028 180 0.03555907 418 0.0007971438872248804 1.63842 56 132 0.01151789 GO Biological Process positive regulation of endopeptidase activity 101 6.887123e-21 8.973034807623764e-19 2.396168 147 0.02903991 503 0.0035897804322067594 1.550236 57 142 0.01172357 GO Biological Process positive regulation of cysteine-type endopeptidase activity 104 1.097051e-20 1.3880859720192307e-18 2.444294 140 0.02765705 536 0.004543704498507463 1.568934 52 128 0.01069519 GO Biological Process positive regulation of hemopoiesis 107 1.399469e-20 1.7210852870093457e-18 2.049198 203 0.04010273 413 0.0007748395171428572 1.568202 67 165 0.01378034 GO Biological Process regulation of lymphocyte differentiation 152 4.039564e-18 3.4971462286842104e-16 2.049399 177 0.03496642 545 0.004805239434311926 1.514506 60 153 0.0123406 GO Biological Process positive regulation of cysteine-type endopeptidase activity involved in apoptotic process 162 1.192324e-17 9.685056491358025e-16 2.381174 124 0.02449625 521 0.0037677298378119 1.603708 49 118 0.01007816 GO Biological Process positive regulation of peptidase activity 167 4.911871e-17 3.870377873592814e-15 2.118762 153 0.03022521 644 0.010287861492546584 1.460021 62 164 0.01275195 GO Biological Process regulation of regulatory T cell differentiation 227 4.125686e-14 2.391625642026432e-12 3.51057 52 0.01027262 587 0.007238660538330494 2.317195 15 25 0.00308515 GO Biological Process regulation of transforming growth factor beta production 234 7.673365e-14 4.315120086965812e-12 3.357316 54 0.01066772 624 0.009325431128044872 2.206852 16 28 0.003290827 GO Biological Process positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway 235 7.74898e-14 4.339099056170213e-12 5.023046 34 0.006716713 799 0.027869510330413017 2.360106 11 18 0.002262443 GO Biological Process positive regulation of reactive oxygen species metabolic process 241 1.13369e-13 6.1901355643153524e-12 2.313499 99 0.01955749 862 0.03562696970069606 1.544796 36 90 0.00740436 GO Biological Process positive regulation of alpha-beta T cell proliferation 250 4.126236e-13 2.1718855809600002e-11 3.898451 42 0.008297116 799 0.027869510330413017 2.360106 11 18 0.002262443 GO Biological Process extrinsic apoptotic signaling pathway 259 7.824581e-13 3.975430941274131e-11 2.257457 97 0.01916239 538 0.00457330282992565 1.666754 41 95 0.008432744 GO Biological Process positive regulation of myeloid leukocyte differentiation 273 3.421376e-12 1.649153362051282e-10 2.427166 79 0.01560648 667 0.012371541371064469 1.853756 24 50 0.00493624 GO Biological Process epidermis morphogenesis 279 4.496389e-12 2.1207162312186383e-10 2.70957 64 0.01264322 882 0.03850859010090703 1.997582 15 29 0.00308515 GO Biological Process cellular response to ketone 288 6.395499e-12 2.9221656715624996e-10 2.020883 115 0.02271829 557 0.005559164842369839 1.686847 38 87 0.007815714 GO Biological Process activation of cysteine-type endopeptidase activity involved in apoptotic process 289 7.125054e-12 3.244241715778547e-10 2.359852 81 0.01600158 648 0.010580045163117283 1.668762 35 81 0.007198684 GO Biological Process positive regulation of myeloid cell differentiation 313 2.03255e-11 8.545151900958466e-10 2.088862 101 0.01995259 825 0.03038354083878788 1.58202 34 83 0.006993007 GO Molecular Function histone acetyltransferase binding 65 0.00000133186 0.00008650942953846154 2.353902 40 0.007902015 49 0.004665459924081633 2.431624 17 27 0.003496503 GO Molecular Function R-SMAD binding 80 0.000004794928 0.0002530523252 2.282378 38 0.007506914 55 0.006426456656727273 2.51869 15 23 0.00308515 GO Molecular Function xenobiotic-transporting ATPase activity 215 0.000533428 0.010475037283720928 3.193983 12 0.002370605 54 0.0060821178140740735 3.861991 7 7 0.001439737 Human Phenotype Wide intermamillary distance 2 1.286121e-11 4.2911427165e-8 2.926889 54 0.01066772 24 0.04095300732083333 2.242446 18 31 0.00370218 Human Phenotype Oligodontia 163 0.00001100253 0.00045042872815950926 2.224107 37 0.007309364 22 0.03715938912727273 2.642415 13 19 0.002673797 Mouse Phenotype Single KO respiratory system inflammation 42 4.470801e-26 9.747410656428572e-24 2.333897 196 0.03871987 309 0.0006586393025566343 1.540576 73 183 0.0150144 Mouse Phenotype Single KO lung inflammation 53 4.392614e-24 7.589276678867925e-22 2.404155 170 0.03358356 374 0.001980455638315508 1.544796 62 155 0.01275195 Mouse Phenotype Single KO altered susceptibility to autoimmune disorder 63 1.675911e-22 2.4359233376190476e-20 2.102833 210 0.04148558 722 0.023487451343490305 1.316924 89 261 0.01830522 Mouse Phenotype Single KO abnormal lymph node size 76 2.672464e-21 3.21996748e-19 2.13661 191 0.03773212 309 0.0006586393025566343 1.540576 73 183 0.0150144 Mouse Phenotype Single KO enlarged lymph nodes 78 8.816591e-21 1.0350451767564104e-18 2.39776 146 0.02884235 542 0.009384637613653135 1.509951 52 133 0.01069519 Mouse Phenotype Single KO abnormal wound healing 83 1.251508e-19 1.3807299706024095e-17 2.158673 171 0.03378111 408 0.003131321435784314 1.499361 66 170 0.01357466 Mouse Phenotype Single KO increased susceptibility to autoimmune disorder 90 4.890283e-19 4.9755912701111105e-17 2.444125 128 0.02528645 821 0.03425571240560292 1.440584 47 126 0.009666804 Mouse Phenotype Single KO abnormal B cell activation 99 7.157253e-18 6.620097547575757e-16 2.194251 149 0.02943501 720 0.02329132550416667 1.422839 56 152 0.01151789 Mouse Phenotype Single KO renal/urinary system inflammation 114 6.555795e-17 5.265913580263158e-15 2.066165 161 0.03180561 351 0.0013610289112535613 1.570543 61 150 0.01254628 Mouse Phenotype Single KO abnormal pulmonary circulation 118 1.390192e-16 1.0788125545762711e-14 2.45683 109 0.02153299 177 0.000016433716105649717 2.180156 35 62 0.007198684 Mouse Phenotype Single KO kidney inflammation 125 2.54593e-16 1.8650464808000002e-14 2.07672 153 0.03022521 527 0.008923249764895636 1.495842 55 142 0.01131222 Mouse Phenotype Single KO calcified joint 132 9.940368e-16 6.895753770909091e-14 6.302325 32 0.006321612 477 0.005772632310901468 3.861991 6 6 0.00123406 Mouse Phenotype Single KO abnormal thymus physiology 133 9.94655e-16 6.848162281954887e-14 2.429943 105 0.02074279 885 0.041759210311864414 1.554828 31 77 0.006375977 Mouse Phenotype Single KO abnormal immune organ physiology 135 1.637496e-15 1.1107074719999999e-13 2.10593 140 0.02765705 682 0.020610594397360703 1.458974 51 135 0.01048951 Mouse Phenotype Single KO decreased sensitivity to induced cell death 142 3.660581e-15 2.3605591702112676e-13 2.615846 88 0.01738443 526 0.00892432341539924 1.683432 34 78 0.006993007 Mouse Phenotype Single KO abnormal B cell proliferation 149 1.067623e-14 6.561224034228189e-13 2.091633 134 0.02647175 937 0.04465286448345785 1.399272 50 138 0.01028383 Mouse Phenotype Single KO abnormal mesangial matrix morphology 216 8.337818e-12 3.53469441787037e-10 2.772899 60 0.01185302 588 0.012549148357482994 1.983185 19 37 0.003907857 Mouse Phenotype Single KO increased IgM level 218 1.249148e-11 5.246994603669725e-10 2.185405 93 0.01837218 752 0.02664635857180851 1.52139 39 99 0.00802139 Mouse Phenotype Single KO abnormal lung alveolus development 223 1.432208e-11 5.881044240358745e-10 2.369259 78 0.01540893 294 0.0005341947744557823 2.206852 24 42 0.00493624 Mouse Phenotype Single KO impaired lung alveolus development 224 1.478288e-11 6.043162150000001e-10 2.383047 77 0.01521138 260 0.00024055002281538464 2.337521 23 38 0.004730564 Mouse Phenotype abnormal lymph node size 54 2.172802e-28 3.8470666522222225e-26 2.044554 286 0.05649941 335 0.00011538874080895522 1.468644 108 284 0.02221308 Mouse Phenotype respiratory system inflammation 56 6.217527e-28 1.0615317079821427e-25 2.147964 251 0.04958514 326 0.00010158377732208588 1.496896 100 258 0.02056767 Mouse Phenotype abnormal wound healing 57 9.774133e-28 1.6394822037368424e-25 2.168378 244 0.04820229 207 0.000002896120662463768 1.635257 94 222 0.01933361 Mouse Phenotype lung inflammation 66 9.407093e-26 1.362745699590909e-23 2.172002 225 0.04444883 349 0.0001519049488366762 1.520873 89 226 0.01830522 Mouse Phenotype increased susceptibility to autoimmune disorder 79 2.422217e-23 2.9314957894936707e-21 2.316672 177 0.03496642 943 0.015741390594909862 1.382186 68 190 0.01398601 Mouse Phenotype enlarged lymph nodes 80 3.385117e-23 4.045637954625e-21 2.089843 220 0.04346108 508 0.0015593983471653542 1.450431 83 221 0.01707116 Mouse Phenotype abnormal circulating interleukin-6 level 138 5.253278e-18 3.639608040434783e-16 2.291136 137 0.0270644 1080 0.024635961491666664 1.409105 54 148 0.01110654 Mouse Phenotype increased mean systemic arterial blood pressure 157 8.149504e-17 4.96289221299363e-15 2.742274 91 0.01797708 342 0.0001251499116140351 2.218591 27 47 0.00555327 Mouse Phenotype abnormal pulmonary circulation 168 3.815004e-16 2.1711460264285716e-14 2.296274 121 0.0239036 305 0.00006705797002622951 1.955438 40 79 0.008227067 Mouse Phenotype lacrimal gland inflammation 170 5.643591e-16 3.1740219735882355e-14 4.374872 46 0.009087317 1041 0.021357556510086452 2.206852 12 21 0.00246812 Mouse Phenotype calcified joint 177 9.940368e-16 5.3694835281355935e-14 6.302325 32 0.006321612 653 0.004402802431699847 3.861991 6 6 0.00123406 Mouse Phenotype impaired wound healing 182 1.903493e-15 9.99961350164835e-14 2.891576 76 0.01501383 1181 0.034319772149872994 1.655139 24 56 0.00493624 Mouse Phenotype abnormal thymus physiology 187 4.614863e-15 2.359502948823529e-13 2.129967 132 0.02607665 868 0.012578949476958525 1.494964 48 124 0.00987248 Mouse Phenotype abnormal conjunctival epithelium morphology 198 1.983129e-14 9.576109277272728e-13 4.381006 41 0.008099565 937 0.015524859970117396 2.808721 8 11 0.001645413 Mouse Phenotype abnormal lacrimal gland physiology 218 1.103643e-13 4.8403351940366975e-12 3.636854 48 0.009482418 1370 0.04980451216861313 1.930995 13 26 0.002673797 Mouse Phenotype decreased conjunctiva goblet cell number 226 2.235648e-13 9.457978109734513e-12 4.569575 36 0.007111814 872 0.012742905185779816 3.861991 5 5 0.001028383 Mouse Phenotype abnormal conjunctiva goblet cell morphology 228 2.357452e-13 9.885788847368422e-12 4.4443 37 0.007309364 1240 0.039387310548387094 2.896493 6 8 0.00123406 Mouse Phenotype abnormal mesangial matrix morphology 232 2.926858e-13 1.2061935059482759e-11 2.629586 75 0.01481628 664 0.004668171209186747 1.893133 25 51 0.005141917 Mouse Phenotype abnormal glomerular mesangium morphology 233 3.309117e-13 1.3578741475107297e-11 2.228661 103 0.02034769 426 0.000651859329225352 1.796275 40 86 0.008227067 Mouse Phenotype abnormal vascular wound healing 240 4.174155e-13 1.6628789981249998e-11 2.240014 101 0.01995259 1000 0.017999777625 1.571741 35 86 0.007198684