# 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 adaptive immune response 170 2.775295e-128 2.1482415826470592e-126 2.118291 1282 0.02405208 1045 0.03588187305358852 1.133288 113 131 0.007906521 GO Biological Process regulation of B cell activation 190 9.91234e-119 6.865078003157895e-117 2.018306 1333 0.02500891 715 0.005032754331608391 1.174292 101 113 0.007066891 GO Biological Process interferon-gamma-mediated signaling pathway 241 5.942186e-100 3.244532181493776e-98 2.680714 622 0.01166957 293 0.0000011260556010238909 1.313812 64 64 0.00447803 GO Biological Process tumor necrosis factor-mediated signaling pathway 243 3.187876e-98 1.7263070075720163e-96 2.248974 857 0.0160785 999 0.0271616907997998 1.139321 111 128 0.007766583 GO Biological Process cellular response to interferon-gamma 248 3.885307e-95 2.0615626940725805e-93 2.149808 917 0.01720418 384 0.000023887673199739586 1.225488 111 119 0.007766583 GO Biological Process response to interferon-gamma 255 4.139027e-93 2.1359002467843134e-91 2.026666 1033 0.0193805 306 0.0000016397154679084969 1.229353 131 140 0.009165967 GO Biological Process regulation of type I interferon production 275 2.454383e-87 1.1744445780727274e-85 2.122577 866 0.01624735 359 0.000011093066323676879 1.228361 115 123 0.00804646 GO Biological Process regulation of antigen receptor-mediated signaling pathway 288 2.717751e-84 1.2417668544791666e-82 2.405238 639 0.01198852 984 0.02566660275406504 1.214656 49 53 0.003428491 GO Biological Process intrinsic apoptotic signaling pathway in response to DNA damage 340 1.574618e-74 6.094234782941176e-73 2.406528 563 0.01056265 724 0.005250715448756906 1.218608 64 69 0.00447803 GO Biological Process lymphocyte costimulation 347 2.940111e-73 1.1149544855619596e-71 2.260682 629 0.0118009 676 0.003737078136094674 1.22129 66 71 0.004617968 GO Biological Process T cell costimulation 350 6.698251e-73 2.5183509974e-71 2.281109 614 0.01151948 740 0.006292493318783784 1.217208 63 68 0.00440806 GO Biological Process Fc receptor mediated stimulatory signaling pathway 401 3.465249e-64 1.137137446159601e-62 2.005073 727 0.01363952 942 0.02167974585350318 1.18783 66 73 0.004617968 GO Biological Process positive regulation of intrinsic apoptotic signaling pathway 402 3.664898e-64 1.1996615119900498e-62 2.450882 466 0.0087428 947 0.021789414217529036 1.216493 50 54 0.003498461 GO Biological Process negative regulation of type I interferon production 418 1.091248e-61 3.43534268708134e-60 2.843812 344 0.006453913 957 0.02278502162904911 1.229952 44 47 0.003078645 GO Biological Process interleukin-12-mediated signaling pathway 454 7.852354e-57 2.2759719446255507e-55 2.262291 484 0.009080505 857 0.013035311541890315 1.221615 53 57 0.003708368 GO Biological Process regulation of defense response to virus 460 6.862322e-56 1.9630716347391302e-54 2.003463 632 0.01185719 579 0.0013002171537996546 1.205456 89 97 0.00622726 GO Biological Process response to interleukin-12 470 3.198177e-54 8.95421513680851e-53 2.165179 508 0.009530778 827 0.010983970052599759 1.223204 54 58 0.003778338 GO Biological Process nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway 485 8.119903e-53 2.2030887335463917e-51 2.455239 380 0.007129322 1051 0.03604898659657469 1.270018 29 30 0.002029107 GO Biological Process nucleotide-binding oligomerization domain containing signaling pathway 509 6.898104e-50 1.783342839607073e-48 2.428124 366 0.006866663 1103 0.04378713918404352 1.268508 28 29 0.001959138 GO Biological Process lipopolysaccharide-mediated signaling pathway 516 2.728098e-49 6.957178601162791e-48 2.45794 353 0.006622765 1013 0.029312861096742353 1.271431 30 31 0.002099076 GO Cellular Component MHC protein complex 123 8.684237e-26 1.2200293931707317e-24 3.46634 103 0.001932422 155 0.047333420593548385 1.313812 20 20 0.001399384 GO Molecular Function cytokine receptor activity 24 1.362252e-75 2.3964283100000003e-73 2.062244 801 0.01502786 86 0.0020611489804651163 1.213848 85 92 0.005947383 GO Molecular Function non-membrane spanning protein tyrosine kinase activity 46 3.019352e-55 2.771240031304348e-53 2.078482 570 0.01069398 131 0.02255263806259542 1.236529 48 51 0.003358522 GO Molecular Function phosphotyrosine binding 59 5.130038e-44 3.6710204128813565e-42 2.060693 460 0.008630232 134 0.026604529704477613 1.276274 34 35 0.002378953 Human Phenotype Abnormality of lymphocytes 3 6.179068e-111 1.3744306921333334e-107 2.089671 1144 0.02146301 94 0.029906107241489364 1.15313 122 139 0.008536244 Human Phenotype Abnormality of the lymph nodes 18 6.386526e-54 2.367627111e-51 2.24297 467 0.008761562 72 0.01485428336111111 1.261259 48 50 0.003358522 Human Phenotype Lymphadenopathy 21 2.343649e-49 7.447223703333334e-47 2.22664 433 0.008123675 115 0.04753221419565218 1.252704 41 43 0.002868738 Mouse Phenotype Single KO abnormal lymphocyte physiology 1 0 0 2.069305 8266 0.1550815 8 8.514202637125e-29 1.198111 787 863 0.05506577 Mouse Phenotype Single KO abnormal T cell physiology 1 0 0 2.261201 5437 0.1020056 13 9.058167794615384e-20 1.211209 484 525 0.0338651 Mouse Phenotype Single KO abnormal B cell physiology 1 0 0 2.072592 5166 0.09692126 16 1.6755999404375e-18 1.202308 496 542 0.03470473 Mouse Phenotype Single KO abnormal immunoglobulin level 1 0 0 2.128278 4269 0.08009231 32 1.6071238944375e-14 1.197288 411 451 0.02875735 Mouse Phenotype Single KO abnormal IgG level 1 0 0 2.122152 3325 0.06238157 34 7.849240351764706e-14 1.216214 324 350 0.02267003 Mouse Phenotype Single KO abnormal humoral immune response 1 0 0 2.086736 4592 0.08615223 37 8.863057825135135e-14 1.185374 443 491 0.03099636 Mouse Phenotype Single KO abnormal cytokine secretion 1 0 0 2.168473 5173 0.09705259 43 1.0856948070697674e-12 1.166555 507 571 0.03547439 Mouse Phenotype Single KO abnormal T cell activation 1 0 0 2.367456 3187 0.0597925 49 2.807069006122449e-12 1.222891 269 289 0.01882172 Mouse Phenotype Single KO decreased immunoglobulin level 1 0 0 2.339053 2824 0.05298212 53 1.6380216101320753e-11 1.219968 260 280 0.018192 Mouse Phenotype Single KO abnormal T cell proliferation 1 0 0 2.37124 2937 0.05510216 58 4.181242500517241e-11 1.223204 243 261 0.01700252 Mouse Phenotype Single KO abnormal interleukin secretion 1 0 0 2.126437 3915 0.07345078 89 7.235059905280899e-9 1.162944 370 418 0.02588861 Mouse Phenotype Single KO abnormal immune tolerance 1 0 0 2.246598 3035 0.05694077 127 9.737496118110236e-7 1.158331 298 338 0.02085083 Mouse Phenotype Single KO autoimmune response 1 0 0 2.27809 2998 0.0562466 129 0.0000011661290432558138 1.159012 292 331 0.02043101 Mouse Phenotype Single KO abnormal self tolerance 1 0 0 2.244887 3007 0.05641545 140 0.000001883219463 1.155997 293 333 0.02050098 Mouse Phenotype Single KO abnormal response to infection 1 0 0 2.011049 4355 0.08170578 267 0.00045102649168539323 1.095231 471 565 0.0329555 Mouse Phenotype Single KO altered susceptibility to infection 1 0 0 2.015662 3940 0.07391981 292 0.0008463024838356164 1.094843 440 528 0.03078645 Mouse Phenotype Single KO increased susceptibility to infection 64 3.08822e-308 4.418567271875e-306 2.056751 3262 0.0611996 266 0.00043952567255639097 1.110484 355 420 0.02483907 Mouse Phenotype Single KO altered susceptibility to autoimmune disorder 66 1.609349e-301 2.2328498171212122e-299 2.325151 2445 0.04587156 192 0.000031862845047395836 1.157765 230 261 0.01609292 Mouse Phenotype Single KO abnormal mature B cell number 68 4.085104e-292 5.501073136470588e-290 2.056593 3097 0.05810398 92 1.2524178198913042e-8 1.194807 251 276 0.01756227 Mouse Phenotype Single KO decreased IgG level 70 2.246393e-279 2.9386029572857143e-277 2.320889 2277 0.04271965 51 1.0686599643921569e-11 1.243429 212 224 0.01483347 Mouse Phenotype abnormal lymphopoiesis 1 0 0 2.001501 6777 0.1271458 16 3.08573865225e-23 1.204832 597 651 0.04177162 Mouse Phenotype abnormal B cell physiology 1 0 0 2.058208 6375 0.1196038 24 4.368054395e-20 1.189058 610 674 0.04268122 Mouse Phenotype abnormal T cell physiology 1 0 0 2.081619 6767 0.1269582 38 2.417841536368421e-17 1.174125 622 696 0.04352085 Mouse Phenotype abnormal immunoglobulin level 1 0 0 2.092443 5261 0.09870359 49 1.5685072207959183e-16 1.189597 498 550 0.03484467 Mouse Phenotype abnormal humoral immune response 1 0 0 2.066223 5696 0.1068648 54 3.3807235655555557e-15 1.175631 536 599 0.0375035 Mouse Phenotype abnormal IgG level 1 0 0 2.139513 4230 0.07936061 60 1.2253938512e-14 1.200763 393 430 0.0274979 Mouse Phenotype decreased immunoglobulin level 1 0 0 2.28397 3587 0.06729705 62 1.6700784696774195e-14 1.219429 323 348 0.02260006 Mouse Phenotype decreased IgG level 1 0 0 2.356606 2859 0.05363877 68 2.113030211029412e-13 1.236244 255 271 0.01784215 Mouse Phenotype abnormal cytokine secretion 1 0 0 2.085558 6392 0.1199227 87 2.772616369310345e-11 1.140221 624 719 0.04366079 Mouse Phenotype abnormal T cell activation 1 0 0 2.180103 4249 0.07971708 103 2.385288490776699e-10 1.175685 366 409 0.02560873 Mouse Phenotype autoimmune response 1 0 0 2.131639 3921 0.07356335 108 8.095983019722223e-10 1.16852 378 425 0.02644836 Mouse Phenotype abnormal mature B cell number 1 0 0 2.055057 4081 0.07656517 111 1.0019126943243244e-9 1.17624 342 382 0.02392947 Mouse Phenotype abnormal immune tolerance 1 0 0 2.111449 3966 0.07440761 112 1.0247548092857144e-9 1.165819 386 435 0.02700812 Mouse Phenotype abnormal self tolerance 1 0 0 2.109611 3930 0.0737322 117 1.3861186412820513e-9 1.166123 379 427 0.02651833 Mouse Phenotype abnormal spleen white pulp morphology 1 0 0 2.086621 3478 0.06525206 127 2.8307192473228346e-9 1.176278 325 363 0.02273999 Mouse Phenotype decreased mature B cell number 1 0 0 2.090353 3329 0.06245661 136 6.908577537794117e-9 1.191492 263 290 0.0184019 Mouse Phenotype abnormal IgM level 1 0 0 2.307277 2710 0.05084332 143 8.792208681818182e-9 1.203452 229 250 0.01602295 Mouse Phenotype abnormal T cell proliferation 1 0 0 2.184506 3735 0.07007373 152 1.923817873026316e-8 1.167436 327 368 0.02287993 Mouse Phenotype abnormal interleukin secretion 1 0 0 2.067127 4968 0.09320651 161 3.2183133637267075e-8 1.137986 466 538 0.03260565 Mouse Phenotype abnormal B cell activation 1 0 0 2.433294 2415 0.04530872 169 7.389606381656805e-8 1.211271 189 205 0.01322418