# 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 adaptive immune response 104 6.443635e-168 8.153057015865384e-166 2.005659 1907 0.04033247 780 0.009673798360769231 1.118645 218 267 0.0159066 GO Biological Process regulation of adaptive immune response 193 5.212951e-110 3.554260218082901e-108 2.09551 1125 0.02379341 538 0.0007571145607806692 1.202745 115 131 0.008391098 GO Biological Process regulation of B cell activation 199 5.583442e-107 3.692086094371859e-105 2.026036 1187 0.02510469 638 0.0027242265059561127 1.200339 99 113 0.007223641 GO Biological Process cellular response to interferon-gamma 205 3.525026e-104 2.2627227870243904e-102 2.296622 869 0.01837909 365 0.000012102714451780821 1.254951 109 119 0.007953302 GO Biological Process interferon-gamma-mediated signaling pathway 206 3.691726e-104 2.3582243899999997e-102 2.847064 586 0.01239372 380 0.00001787808058 1.327269 62 64 0.004523896 GO Biological Process response to interferon-gamma 211 6.224468e-102 3.881885043222749e-100 2.156383 975 0.02062096 273 4.872960865567765e-7 1.262434 129 140 0.009412623 GO Biological Process tumor necrosis factor-mediated signaling pathway 238 4.562879e-93 2.522811964747899e-91 2.295646 776 0.01641217 1057 0.04014166021854305 1.145305 107 128 0.00780737 GO Biological Process regulation of antigen receptor-mediated signaling pathway 258 1.323012e-88 6.747873995348838e-87 2.550182 601 0.01271097 597 0.0017112435296147404 1.292532 50 53 0.003648304 GO Biological Process defense response to virus 261 3.972914e-87 2.003048863065134e-85 2.097708 887 0.01875978 1082 0.04282538173659889 1.122385 145 177 0.01058008 GO Biological Process regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains 266 4.949858e-85 2.448691030902256e-83 2.008914 962 0.02034601 686 0.004564132012244898 1.187406 104 120 0.007588471 GO Biological Process intrinsic apoptotic signaling pathway in response to DNA damage 285 1.607237e-78 7.42092339754386e-77 2.553864 530 0.01120934 764 0.008875810950523559 1.23109 62 69 0.004523896 GO Biological Process regulation of B cell proliferation 292 2.73577e-77 1.2328766243150683e-75 2.221919 689 0.01457214 735 0.006806708485986394 1.253975 54 59 0.003940168 GO Biological Process regulation of type I interferon production 294 1.192568e-76 5.337755888435374e-75 2.113715 765 0.01617952 576 0.001206075579982639 1.203001 108 123 0.007880336 GO Biological Process T cell costimulation 315 8.395705e-73 3.507272447460317e-71 2.370466 566 0.01197073 788 0.010665726863705585 1.229046 61 68 0.00445093 GO Biological Process lymphocyte costimulation 320 1.520353e-72 6.2519766021874994e-71 2.341834 578 0.01222453 721 0.006096593901664355 1.235005 64 71 0.004669829 GO Biological Process leukocyte homeostasis 349 2.232079e-68 8.416025089111747e-67 2.199141 622 0.01315511 1003 0.03084285925024925 1.206492 59 67 0.004304998 GO Biological Process T cell activation involved in immune response 392 4.14609e-61 1.391795875255102e-59 2.300525 503 0.0106383 828 0.013964691560024155 1.235322 55 61 0.004013134 GO Biological Process Fc receptor mediated stimulatory signaling pathway 413 1.670831e-57 5.323599304842615e-56 2.008481 646 0.0136627 965 0.027227961895336782 1.201169 64 73 0.004669829 GO Biological Process positive regulation of cytokine biosynthetic process 414 1.677173e-57 5.3308984316425115e-56 2.236087 502 0.01061715 1062 0.04164058989359699 1.210241 53 60 0.003867202 GO Biological Process positive regulation of intrinsic apoptotic signaling pathway 426 8.014408e-56 2.4756242927699533e-54 2.43086 410 0.008671376 1106 0.04652816567540687 1.217852 48 54 0.003502371 GO Cellular Component extrinsic component of cytoplasmic side of plasma membrane 40 1.019357e-84 4.40362224e-83 2.020191 945 0.01998646 93 0.00021218520774193549 1.231819 98 109 0.007150675 GO Cellular Component MHC protein complex 117 3.250707e-26 4.801044184615385e-25 3.679977 97 0.002051521 140 0.022638342857142855 1.370084 20 20 0.001459321 GO Molecular Function cytokine receptor activity 19 6.157628e-77 1.3682897587368421e-74 2.147726 740 0.01565078 90 0.0018622533642222222 1.236054 83 92 0.006056184 GO Molecular Function phosphotyrosine binding 68 1.292431e-38 8.024476002941177e-37 2.050317 406 0.008586777 118 0.008091931713559323 1.330939 34 35 0.002480846 Human Phenotype Abnormality of lymphocytes 3 2.448625e-108 5.446558208333334e-105 2.149769 1044 0.02208028 42 0.00288720691 1.20252 122 139 0.008901861 Human Phenotype Decreased antibody level in blood 8 9.961537e-81 8.309167050125001e-78 2.264959 691 0.01461444 64 0.0107312370828125 1.236417 74 82 0.005399489 Human Phenotype Abnormality of the lymph nodes 14 3.754171e-62 1.7893987916428572e-59 2.447285 452 0.009559663 29 0.0006392361232413793 1.342682 49 50 0.003575337 Human Phenotype Lymphadenopathy 18 1.05096e-57 3.896142266666667e-55 2.440528 421 0.008904023 44 0.003330332024772727 1.338221 42 43 0.003064575 Human Phenotype Abnormality of cells of the lymphoid lineage 21 6.235069e-49 1.981267401761905e-46 2.297558 401 0.008481029 41 0.002663619093414634 1.338946 43 44 0.003137541 Human Phenotype Lymphopenia 33 2.756964e-38 5.574915385454546e-36 2.153425 358 0.007571592 46 0.004272186609347826 1.337463 41 42 0.002991609 Mouse Phenotype Single KO abnormal professional antigen presenting cell physiology 1 0 0 2.011824 6839 0.1446428 6 4.829751292166666e-35 1.239369 768 849 0.05603794 Mouse Phenotype Single KO abnormal lymphocyte physiology 1 0 0 2.156913 7643 0.1616471 9 3.2271343586666665e-32 1.228789 774 863 0.05647574 Mouse Phenotype Single KO abnormal B cell physiology 1 0 0 2.192611 4848 0.1025337 13 5.803957360923077e-24 1.248748 494 542 0.03604524 Mouse Phenotype Single KO abnormal T cell physiology 1 0 0 2.328231 4966 0.1050294 18 2.7768780552777775e-21 1.2396 475 525 0.03465888 Mouse Phenotype Single KO abnormal lymphopoiesis 1 0 0 2.035717 4430 0.09369316 20 3.1395195722000004e-21 1.259847 400 435 0.02918643 Mouse Phenotype Single KO abnormal immune serum protein physiology 1 0 0 2.042573 7462 0.157819 22 7.592493251818182e-21 1.180157 814 945 0.05939438 Mouse Phenotype Single KO abnormal immunoglobulin level 1 0 0 2.26545 4031 0.08525443 28 2.331159626785714e-19 1.245531 410 451 0.02991609 Mouse Phenotype Single KO abnormal humoral immune response 1 0 0 2.218673 4331 0.09159934 30 2.8312763329666667e-18 1.230564 441 491 0.03217804 Mouse Phenotype Single KO abnormal IgG level 1 0 0 2.25488 3134 0.06628315 40 1.4307906359250002e-16 1.256563 321 350 0.02342211 Mouse Phenotype Single KO abnormal T cell activation 1 0 0 2.445244 2920 0.06175712 57 3.072803244561404e-14 1.261046 266 289 0.01940897 Mouse Phenotype Single KO abnormal T cell proliferation 1 0 0 2.439191 2680 0.05668119 60 5.941052442999999e-14 1.270346 242 261 0.01765779 Mouse Phenotype Single KO abnormal cytokine secretion 1 0 0 2.210133 4677 0.09891714 66 6.938944287575758e-13 1.182927 493 571 0.03597227 Mouse Phenotype Single KO decreased immunoglobulin level 1 0 0 2.429529 2602 0.05503151 67 8.907601588059702e-13 1.252648 256 280 0.01867931 Mouse Phenotype Single KO abnormal interleukin secretion 1 0 0 2.176706 3555 0.07518717 111 1.8102564045045045e-9 1.183254 361 418 0.02634075 Mouse Phenotype Single KO abnormal immune tolerance 1 0 0 2.324809 2786 0.05892306 129 1.9819893494573644e-8 1.19173 294 338 0.02145202 Mouse Phenotype Single KO autoimmune response 1 0 0 2.35651 2751 0.05818282 132 2.730833144469697e-8 1.192097 288 331 0.02101423 Mouse Phenotype Single KO abnormal self tolerance 1 0 0 2.319422 2756 0.05828857 135 4.662540232814815e-8 1.189052 289 333 0.02108719 Mouse Phenotype Single KO abnormal response to infection 1 0 0 2.110365 4054 0.08574087 260 0.000046536507946153844 1.115467 460 565 0.03356439 Mouse Phenotype Single KO altered susceptibility to infection 1 0 0 2.110199 3659 0.07738674 335 0.00032908945952238804 1.108003 427 528 0.03115651 Mouse Phenotype Single KO increased susceptibility to infection 1 0 0 2.170022 3053 0.06457003 349 0.00044821625876790834 1.118902 343 420 0.02502736 Mouse Phenotype abnormal lymphocyte physiology 1 0 0 2.037411 9168 0.1939004 10 3.1027538858999996e-30 1.199294 955 1091 0.0696826 Mouse Phenotype abnormal lymphopoiesis 1 0 0 2.064523 6201 0.1311493 19 2.950820487789474e-26 1.237495 588 651 0.04290405 Mouse Phenotype abnormal B cell physiology 1 0 0 2.160077 5935 0.1255235 24 2.554621516875e-25 1.229823 605 674 0.04414447 Mouse Phenotype decreased B cell number 1 0 0 2.045042 4861 0.1028087 40 6.5001892650000004e-21 1.245273 439 483 0.03203211 Mouse Phenotype abnormal immunoglobulin level 1 0 0 2.201437 4910 0.103845 44 2.8934628136363636e-20 1.228093 493 550 0.03597227 Mouse Phenotype abnormal T cell physiology 1 0 0 2.143747 6182 0.1307474 55 1.1599502548363635e-18 1.196855 608 696 0.04436337 Mouse Phenotype abnormal humoral immune response 1 0 0 2.166091 5297 0.1120299 57 1.959904357894737e-18 1.209974 529 599 0.03859905 Mouse Phenotype abnormal IgG level 1 0 0 2.252222 3950 0.08354131 63 4.22503169952381e-17 1.236262 388 430 0.02831084 Mouse Phenotype decreased immunoglobulin level 1 0 0 2.375891 3310 0.0700055 74 5.227542643378379e-16 1.251973 318 348 0.02320321 Mouse Phenotype decreased IgG level 1 0 0 2.44753 2634 0.0557083 89 1.717673397977528e-14 1.268971 251 271 0.01831448 Mouse Phenotype abnormal T cell activation 1 0 0 2.24767 3886 0.08218772 96 8.251228650625001e-14 1.219341 364 409 0.02655965 Mouse Phenotype abnormal spleen white pulp morphology 1 0 0 2.204134 3259 0.06892686 110 1.0702470406363637e-12 1.222885 324 363 0.02364101 Mouse Phenotype abnormal T cell proliferation 1 0 0 2.242378 3401 0.07193012 111 1.1750873835135134e-12 1.221162 328 368 0.02393287 Mouse Phenotype abnormal mature B cell number 1 0 0 2.133308 3758 0.07948056 127 1.3903297537795275e-11 1.208687 337 382 0.02458957 Mouse Phenotype abnormal cytokine secretion 1 0 0 2.112707 5744 0.1214839 138 4.644340967608696e-11 1.150947 604 719 0.04407151 Mouse Phenotype autoimmune response 1 0 0 2.179918 3557 0.07522947 143 6.887650795804196e-11 1.192779 370 425 0.02699745 Mouse Phenotype abnormal immune tolerance 1 0 0 2.162378 3603 0.07620236 144 7.097940329166667e-11 1.190556 378 435 0.02758117 Mouse Phenotype abnormal IgM level 1 0 0 2.423435 2525 0.05340299 148 9.971095838513513e-11 1.244036 227 250 0.0165633 Mouse Phenotype abnormal self tolerance 1 0 0 2.155476 3562 0.07533522 150 1.1533861358e-10 1.190401 371 427 0.02707041 Mouse Phenotype abnormal lymph node morphology 1 0 0 2.152217 3837 0.08115139 151 1.267178215629139e-10 1.194605 354 406 0.02582999