# 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 antigen receptor-mediated signaling pathway 82 3.143164e-97 5.044011594634146e-95 3.09886 478 0.01544576 482 0.000983852837614108 1.39657 47 53 0.003941961 GO Biological Process tumor necrosis factor-mediated signaling pathway 116 3.069227e-82 3.4817205252586206e-80 2.535615 561 0.01812777 361 0.00004529637637950138 1.304177 106 128 0.00889038 GO Biological Process regulation of B cell activation 131 1.788725e-77 1.7967810896946568e-75 2.081021 798 0.02578602 560 0.003459284916428572 1.25431 90 113 0.007548436 GO Biological Process interferon-gamma-mediated signaling pathway 135 1.229505e-75 1.1984486144444445e-73 2.954336 398 0.0128607 702 0.011129467935185185 1.304177 53 64 0.00444519 GO Biological Process regulation of leukocyte mediated immunity 153 8.392451e-70 7.21805638620915e-68 2.009779 782 0.02526901 881 0.03251659101248581 1.171299 119 160 0.00998071 GO Biological Process regulation of adaptive immune response 159 9.795361e-69 8.106739333270439e-67 2.060407 724 0.02339484 505 0.001540464197920792 1.250267 104 131 0.008722637 GO Biological Process pattern recognition receptor signaling pathway 170 2.476005e-66 1.9165735173529412e-64 2.041719 714 0.0230717 932 0.03892840241952789 1.190744 93 123 0.00780005 GO Biological Process regulation of T cell receptor signaling pathway 174 3.226e-65 2.4397088505747126e-63 3.455285 273 0.008821534 712 0.011643426960393258 1.399871 32 36 0.002683888 GO Biological Process regulation of intrinsic apoptotic signaling pathway 187 1.91722e-62 1.3491282342245988e-60 2.056062 660 0.02132678 442 0.00039904578185520357 1.249724 123 155 0.0103162 GO Biological Process regulation of type I interferon production 190 6.648156e-61 4.604372884421052e-59 2.237372 530 0.01712605 216 1.587778342685185e-8 1.395603 109 123 0.009141994 GO Biological Process intrinsic apoptotic signaling pathway in response to DNA damage 202 2.621179e-59 1.7075294287623764e-57 2.679789 364 0.01176204 775 0.01902422948 1.278143 56 69 0.004696804 GO Biological Process regulation of transcription from RNA polymerase II promoter in response to stress 251 1.392129e-52 7.298416538247012e-51 2.204067 471 0.01521957 638 0.00683739989968652 1.240373 89 113 0.007464564 GO Biological Process nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway 256 9.993066e-52 5.1366701364843745e-50 2.971244 267 0.008627654 466 0.0006165734164592275 1.52236 29 30 0.002432274 GO Biological Process telomere organization 265 2.576767e-50 1.2795349793584905e-48 2.268053 423 0.01366853 292 0.0000013552945309246578 1.35949 101 117 0.008471022 GO Biological Process nucleotide-binding oligomerization domain containing signaling pathway 268 6.263452e-50 3.0754016741791043e-48 2.959418 259 0.008369147 479 0.0009156356367432152 1.52055 28 29 0.002348402 GO Biological Process cytoplasmic pattern recognition receptor signaling pathway 280 8.044608e-49 3.780678452571429e-47 2.815488 274 0.008853847 379 0.00009018018941424803 1.529859 34 35 0.002851631 GO Biological Process negative regulation of type I interferon production 297 7.689575e-47 3.4069736506734e-45 3.146672 221 0.007141241 616 0.005727014692532467 1.37381 41 47 0.003438732 GO Biological Process regulation of DNA-templated transcription in response to stress 310 4.263109e-46 1.8096210106774193e-44 2.039498 493 0.01593046 662 0.008065888560574018 1.230769 93 119 0.00780005 GO Biological Process positive regulation of intrinsic apoptotic signaling pathway 313 1.3579e-45 5.708819840255592e-44 2.617889 289 0.009338547 405 0.00016872096149382715 1.429035 49 54 0.004109704 GO Biological Process negative regulation of peptidyl-tyrosine phosphorylation 353 1.361828e-42 5.076570722946176e-41 2.481746 297 0.009597053 944 0.04120059202648305 1.306795 39 47 0.003270989 GO Cellular Component extrinsic component of cytoplasmic side of plasma membrane 39 9.244462e-55 4.0960077784615385e-53 2.005424 614 0.01984037 169 0.016905136473372783 1.21365 84 109 0.007045207 GO Cellular Component DNA packaging complex 66 1.070828e-33 2.8036223999999997e-32 2.208794 295 0.009532426 188 0.03149866417021277 1.195203 85 112 0.007129078 GO Cellular Component BLOC complex 89 4.501487e-26 8.739965770786516e-25 3.132242 120 0.003877597 181 0.027028297193370167 1.437911 21 23 0.001761302 GO Cellular Component mitochondrial ribosome 122 2.033034e-19 2.8795760262295082e-18 2.030968 199 0.006430349 120 0.0016484112 1.29694 70 85 0.005871006 GO Cellular Component mitochondrial large ribosomal subunit 147 1.960856e-15 2.3050062367346938e-14 2.197867 128 0.004136104 155 0.010391922209032258 1.327819 43 51 0.003606475 GO Cellular Component sex chromosome 158 2.120183e-14 2.3187824202531647e-13 2.235825 114 0.003683717 200 0.03950633088 1.393141 23 26 0.001929045 GO Cellular Component integrator complex 194 2.284353e-11 2.0347226721649485e-10 2.27145 84 0.002714318 160 0.0118417788 1.574855 15 15 0.001258073 GO Cellular Component DNA-directed RNA polymerase III complex 235 1.192542e-9 8.768989685106382e-9 2.793974 47 0.001518726 130 0.0023645699446153846 1.574855 19 19 0.001593559 GO Molecular Function rRNA binding 62 3.856507e-27 2.6261568635483874e-25 2.657589 163 0.00526707 103 0.0023909349961165048 1.364875 52 60 0.004361318 GO Molecular Function tumor necrosis factor receptor superfamily binding 67 3.566775e-24 2.2476006044776117e-22 2.190656 211 0.006818108 147 0.027590212810884352 1.340302 40 47 0.00335486 GO Molecular Function sequence-specific single stranded DNA binding 100 2.67514e-19 1.1294441080000001e-17 3.123081 87 0.002811258 159 0.045871313056603774 1.574855 14 14 0.001174201 GO Molecular Function mitogen-activated protein kinase binding 164 5.107324e-14 1.314824507804878e-12 2.070344 132 0.004265357 107 0.003054172703551402 1.516527 26 27 0.002180659 GO Molecular Function O-methyltransferase activity 203 1.609588e-12 3.347625879802956e-11 2.330735 89 0.002875885 146 0.027122570442465757 1.499862 20 21 0.00167743 GO Molecular Function snRNA binding 298 1.189217e-9 1.6848571053691274e-8 2.036765 89 0.002875885 154 0.0359960591948052 1.367638 33 38 0.00276776 GO Molecular Function RNA polymerase III activity 442 0.000001452823 0.00001387741788687783 2.410865 38 0.001227906 139 0.021137625244604316 1.574855 16 16 0.001341944 Human Phenotype Abnormality of lymphocytes 4 5.935317e-63 9.90159258525e-60 2.066969 657 0.02122984 98 0.0014072696509183672 1.257618 111 139 0.009309737 Human Phenotype Abnormality of B cell physiology 11 4.527437e-46 2.7465079182727275e-43 2.056061 483 0.01560733 190 0.025734895122105264 1.233141 83 106 0.006961335 Human Phenotype Abnormal immunoglobulin level 13 7.134243e-45 3.662061810692308e-42 2.043755 477 0.01541345 206 0.03678539839805825 1.22657 81 104 0.006793592 Human Phenotype Decreased antibody level in blood 14 9.059049e-43 4.317930998357143e-40 2.108345 421 0.0136039 183 0.02349103847540984 1.267566 66 82 0.00553552 Human Phenotype Progressive external ophthalmoplegia 496 0.000001451873 0.00001953296074395161 2.069284 53 0.001712605 203 0.03604277957142857 1.574855 15 15 0.001258073 Mouse Phenotype Single KO abnormal lymphocyte physiology 1 0 0 2.185157 5068 0.1637639 6 2.2968823595e-22 1.251855 686 863 0.05753586 Mouse Phenotype Single KO abnormal T cell physiology 1 0 0 2.386004 3331 0.1076356 18 5.5371056322222225e-15 1.265884 422 525 0.03539378 Mouse Phenotype Single KO abnormal B cell physiology 1 0 0 2.193225 3174 0.1025624 36 4.8486315000000004e-11 1.226179 422 542 0.03539378 Mouse Phenotype Single KO abnormal immune serum protein physiology 1 0 0 2.015379 4819 0.1557178 48 7.3734682175e-10 1.16156 697 945 0.05845844 Mouse Phenotype Single KO abnormal immunoglobulin level 1 0 0 2.293469 2671 0.08630885 69 5.026736477101449e-8 1.211696 347 451 0.02910341 Mouse Phenotype Single KO abnormal cytokine secretion 32 1.14e-322 3.252e-320 2.155848 2986 0.09648754 66 2.6035473759090913e-8 1.191484 432 571 0.03623249 Mouse Phenotype Single KO abnormal humoral immune response 35 2.3778e-319 6.220977e-317 2.205583 2818 0.09105891 56 8.833524069464286e-9 1.212414 378 491 0.03170343 Mouse Phenotype Single KO abnormal lymphopoiesis 41 3.979575e-274 8.888041042682927e-272 2.037456 2902 0.09377323 14 2.317846002857143e-16 1.303329 360 435 0.03019374 Mouse Phenotype Single KO abnormal T cell activation 42 8.961296e-266 1.9537758921904763e-263 2.452668 1917 0.06194461 46 6.15649993152174e-10 1.29149 237 289 0.01987755 Mouse Phenotype Single KO abnormal T cell proliferation 46 6.052253e-256 1.2047930591521738e-253 2.493266 1793 0.05793776 62 1.4053194730322581e-8 1.285227 213 261 0.01786463 Mouse Phenotype Single KO decreased immunoglobulin level 47 2.916978e-250 5.6831420310638296e-248 2.496492 1750 0.05654829 193 0.0011116189967875648 1.181141 210 280 0.01761302 Mouse Phenotype Single KO abnormal interleukin secretion 54 4.805825e-223 8.14943324537037e-221 2.093619 2238 0.07231719 76 3.0147663392105265e-7 1.209398 321 418 0.02692275 Mouse Phenotype Single KO abnormal IgG level 55 6.880557e-221 1.1455501899818182e-218 2.195228 1997 0.06452968 124 0.00004019551550725806 1.19239 265 350 0.02222595 Mouse Phenotype Single KO abnormal mature B cell number 59 1.974431e-214 3.064383841864407e-212 2.202827 1926 0.06223543 80 3.42760474425e-7 1.255319 220 276 0.01845173 Mouse Phenotype Single KO abnormal CD4-positive, alpha beta T cell morphology 63 1.587701e-207 2.307710802698413e-205 2.017721 2276 0.07354509 199 0.0013700252452261306 1.148902 294 403 0.02465822 Mouse Phenotype Single KO abnormal lymph node morphology 64 1.35555e-206 1.9394955234375e-204 2.21717 1832 0.05919798 95 0.0000016423773504210528 1.241821 220 279 0.01845173 Mouse Phenotype Single KO abnormal B cell activation 68 7.389758e-189 9.951178530294117e-187 2.731598 1134 0.03664329 75 1.4543696820000001e-7 1.346916 130 152 0.0109033 Mouse Phenotype Single KO decreased IgG level 71 1.413678e-185 1.8232464008450703e-183 2.422631 1380 0.04459237 251 0.005386946357370519 1.181141 168 224 0.01409041 Mouse Phenotype Single KO abnormal spleen white pulp morphology 72 6.339268e-184 8.062316260555555e-182 2.245518 1592 0.05144279 57 9.104671761228068e-9 1.287429 215 263 0.01803237 Mouse Phenotype Single KO decreased mature B cell number 73 1.724822e-182 2.1635883635616442e-180 2.301923 1501 0.04850228 114 0.000015349453379824563 1.259884 164 205 0.01375493 Mouse Phenotype abnormal lymphocyte physiology 1 0 0 2.047041 6029 0.1948169 6 5.2695371825e-24 1.231303 853 1091 0.0715424 Mouse Phenotype abnormal lymphopoiesis 1 0 0 2.075369 4080 0.1318383 11 4.211670912545454e-23 1.291817 534 651 0.04478739 Mouse Phenotype decreased B cell number 1 0 0 2.109563 3282 0.1060523 22 2.5895938078636365e-17 1.294446 397 483 0.03329699 Mouse Phenotype abnormal T cell physiology 1 0 0 2.176997 4109 0.1327754 29 9.749480278965519e-16 1.235447 546 696 0.04579384 Mouse Phenotype abnormal B cell physiology 1 0 0 2.151973 3870 0.1250525 36 1.02752146675e-14 1.231378 527 674 0.04420029 Mouse Phenotype abnormal humoral immune response 1 0 0 2.164222 3464 0.1119333 87 1.2857413006896552e-9 1.198888 456 599 0.03824541 Mouse Phenotype abnormal immunoglobulin level 1 0 0 2.205758 3220 0.1040489 91 1.965584001098901e-9 1.20548 421 550 0.03530991 Mouse Phenotype abnormal cytokine secretion 1 0 0 2.08317 3707 0.1197854 135 5.764562029777778e-7 1.15431 527 719 0.04420029 Mouse Phenotype abnormal lymph node morphology 49 4.211406e-310 8.217398523673491e-308 2.25129 2627 0.08488706 83 5.775165387831326e-10 1.245144 321 406 0.02692275 Mouse Phenotype abnormal T cell activation 50 3.130562e-307 5.986260656400001e-305 2.267586 2566 0.08291595 60 1.414910081e-11 1.262965 328 409 0.02750985 Mouse Phenotype decreased immunoglobulin level 52 2.156985e-296 3.965948766346154e-294 2.411576 2199 0.07105697 180 0.00002272601895 1.194718 264 348 0.02214208 Mouse Phenotype abnormal IgG level 53 1.75742e-292 3.170319362264151e-290 2.222295 2551 0.08243125 151 0.0000013877987785430463 1.19396 326 430 0.02734211 Mouse Phenotype abnormal interleukin secretion 54 2.19437e-287 3.885253994444444e-285 2.078262 2900 0.0937086 125 1.6200234888e-7 1.185532 405 538 0.03396796 Mouse Phenotype abnormal mature B cell number 56 8.526639e-279 1.4557713478392858e-276 2.186487 2521 0.08146185 74 2.403918353918919e-10 1.257411 305 382 0.02558081 Mouse Phenotype abnormal T cell proliferation 57 7.87494e-266 1.3209175673684211e-263 2.261496 2245 0.07254338 86 1.0500361579534882e-9 1.253893 293 368 0.02457435 Mouse Phenotype abnormal B cell activation 58 1.369376e-260 2.2573455062068963e-258 2.721073 1568 0.05066727 76 2.8865288013157894e-10 1.344389 175 205 0.01467751 Mouse Phenotype abnormal spleen white pulp morphology 59 3.478327e-260 5.6366583808474575e-258 2.265017 2192 0.07083078 54 4.602213908333333e-12 1.28418 296 363 0.02482597 Mouse Phenotype autoimmune response 62 4.359571e-258 6.722880375967741e-256 2.188227 2337 0.07551621 449 0.011326659042761693 1.119074 302 425 0.0253292 Mouse Phenotype abnormal immune tolerance 65 5.601729e-254 8.2397124567692305e-252 2.16308 2359 0.0762271 447 0.010247340769798656 1.11869 309 435 0.0259163 Mouse Phenotype decreased IgG level 66 8.763489e-254 1.2695108837727273e-251 2.50431 1764 0.05700068 200 0.00008000128505999999 1.208745 208 271 0.01744527