# 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 production of molecular mediator of immune response 17 9.463315e-28 7.325162475588236e-25 3.974998 93 0.02244208 408 0.025005199460539213 1.867273 25 68 0.00676224 GO Biological Process leukocyte migration 25 1.601897e-21 8.431745049200001e-19 2.012874 221 0.05333012 227 0.0023640195672246698 1.484885 88 301 0.02380308 GO Biological Process cellular response to leukemia inhibitory factor 65 7.205008e-12 1.4586261580307692e-9 2.091349 105 0.02533784 208 0.0014019503703365385 1.945142 36 94 0.009737625 GO Biological Process bud elongation involved in lung branching 96 1.14989e-9 1.5761877614583333e-7 3.402559 35 0.008445946 481 0.040519242043659046 4.232486 5 6 0.001352448 GO Biological Process pH reduction 99 1.518969e-9 2.0190013203030303e-7 3.115786 39 0.009411197 515 0.046393268194174754 1.987428 18 46 0.004868813 GO Biological Process positive regulation of CD4-positive, alpha-beta T cell activation 148 2.648273e-8 0.0000023546367842567568 2.571676 45 0.01085907 407 0.02450123030859951 2.370192 14 30 0.003786854 GO Biological Process cellular response to topologically incorrect protein 188 1.292147e-7 0.000009044341687765958 2.012709 68 0.01640927 378 0.018532745703703703 1.607736 44 139 0.01190154 GO Biological Process endoplasmic reticulum unfolded protein response 193 1.686903e-7 0.000011501531905181347 2.133532 58 0.01399614 354 0.015055252789548022 1.692994 38 114 0.0102786 GO Biological Process regulation of CD4-positive, alpha-beta T cell activation 211 2.995645e-7 0.000018682318746445496 2.179035 53 0.01278958 452 0.0339117910619469 2.010431 19 48 0.005139302 GO Biological Process positive regulation of adaptive immune response 236 5.30658e-7 0.000029588680601694915 2.042591 59 0.01423745 372 0.01807581082688172 1.818401 29 81 0.007844198 GO Biological Process cytokine production involved in immune response 242 5.816588e-7 0.00003162829813719008 3.157158 26 0.006274131 370 0.018126565177837835 2.649904 12 23 0.003245875 GO Biological Process positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains 284 0.00000137531 0.0000637243108802817 2.036314 55 0.0132722 449 0.033085594570155905 1.780942 27 77 0.007303219 GO Biological Process JAK-STAT cascade 325 0.000003072295 0.00012439486124615385 2.130844 46 0.01110039 59 0.000002736581325423729 2.917714 27 47 0.007303219 GO Biological Process iron ion transport 366 0.000007073125 0.0002543039668715847 2.214601 39 0.009411197 522 0.048469663971264364 1.871204 21 57 0.005680281 GO Biological Process lysosome organization 375 0.000008168394 0.000286634391056 2.315321 35 0.008445946 451 0.033181862780487806 1.939248 21 55 0.005680281 GO Biological Process CD4-positive, alpha-beta T cell cytokine production 381 0.000009517974 0.00032873233560629924 3.995515 15 0.003619691 317 0.011705308250473187 3.95032 7 9 0.001893427 GO Biological Process cellular response to increased oxygen levels 420 0.00001441315 0.0004515777163095238 3.853757 15 0.003619691 337 0.013094661470919882 3.26506 9 14 0.002434406 GO Biological Process branch elongation of an epithelium 489 0.00003905808 0.0010510537315337426 2.005018 41 0.009893822 298 0.009471896773489934 3.174364 10 16 0.002704896 GO Biological Process regulation of platelet-derived growth factor receptor signaling pathway 683 0.0002773251 0.005343076121376281 2.358839 22 0.00530888 473 0.03839298216701902 2.539491 11 22 0.002975385 GO Biological Process positive regulation of osteoclast differentiation 738 0.0004211151 0.0075087447166666665 2.154107 25 0.006032819 285 0.008394186123508772 2.751116 13 24 0.003516365 GO Cellular Component lysosomal lumen 1 6.080431e-93 1.0506984768e-89 6.470746 201 0.04850386 51 0.020461912094117646 1.747607 32 93 0.008655667 GO Cellular Component vacuolar lumen 2 7.582837e-83 6.551571168e-80 4.67004 240 0.05791506 46 0.016756141773913043 1.553571 52 170 0.01406546 GO Cellular Component vacuolar part 4 3.85042e-77 1.66338144e-74 2.73222 438 0.105695 6 1.2125715839999998e-7 1.552167 169 553 0.04571274 GO Cellular Component vacuole 6 2.470599e-71 7.11532512e-69 2.320924 538 0.1298263 3 1.643845248e-8 1.498166 223 756 0.06031918 GO Cellular Component lysosome 7 4.608594e-70 1.1376643474285713e-67 2.419229 490 0.1182432 4 4.49663184e-8 1.519092 198 662 0.05355694 GO Cellular Component vacuolar membrane 25 1.830987e-21 1.2655782144e-19 2.003187 223 0.05381274 8 0.00000414963864 1.590389 124 396 0.03354071 Mouse Phenotype Single KO abnormal platelet aggregation 34 2.204276e-20 5.936633921176471e-18 3.158702 90 0.02171815 148 0.002153500568581081 2.01857 31 78 0.008385177 Mouse Phenotype Single KO abnormal platelet activation 37 2.464574e-19 6.099487599459459e-17 3.037743 90 0.02171815 222 0.009412538046846847 1.852335 31 85 0.008385177 Mouse Phenotype Single KO decreased T cell proliferation 47 5.967986e-17 1.1627414425957448e-14 2.248077 133 0.03209459 266 0.015619549307518799 1.591415 47 150 0.01271301 Mouse Phenotype Single KO abnormal neutrophil cell number 48 7.783423e-17 1.4848500918958334e-14 2.003206 172 0.04150579 246 0.013755697513008128 1.440309 76 268 0.02055721 Mouse Phenotype Single KO decreased pre-B cell number 52 3.437182e-16 6.052745302692307e-14 2.867288 81 0.01954633 354 0.0326923783079096 1.893858 22 59 0.005950771 Mouse Phenotype Single KO abnormal platelet physiology 65 8.845677e-14 1.2461517582923076e-11 2.34414 97 0.02340734 251 0.01433964310756972 1.708385 37 110 0.01000811 Mouse Phenotype Single KO abnormal pre-B cell morphology 67 1.783438e-13 2.4374539949253732e-11 2.377022 92 0.02220077 314 0.023499326224522294 1.774584 29 83 0.007844198 Mouse Phenotype Single KO increased anti-nuclear antigen antibody level 85 1.865162e-11 2.0093280510588234e-9 2.507838 69 0.01665058 417 0.04852542439328537 1.692994 28 84 0.007573708 Mouse Phenotype Single KO glomerulonephritis 98 1.428749e-10 1.3350055707142858e-8 2.388422 69 0.01665058 314 0.023499326224522294 1.774584 29 83 0.007844198 Mouse Phenotype Single KO decreased mean corpuscular hemoglobin 127 1.709554e-9 1.2326288171653543e-7 2.492615 56 0.01351351 334 0.027179215210778443 1.840211 25 69 0.00676224 Mouse Phenotype Single KO increased lung adenoma incidence 134 4.158579e-9 2.841799097238806e-7 3.372241 33 0.00796332 341 0.03043649847800587 2.293734 14 31 0.003786854 Mouse Phenotype Single KO abnormal compact bone area 140 5.85177e-9 3.827475563571429e-7 3.400113 32 0.007722008 415 0.04805467829156626 2.429079 11 23 0.002975385 Mouse Phenotype Single KO increased platelet aggregation 149 1.274037e-8 7.8297696704698e-7 3.993696 25 0.006032819 311 0.02294611408778135 3.555288 7 10 0.001893427 Mouse Phenotype Single KO increased IgG1 level 194 1.667973e-7 0.000007873004515979381 2.134289 58 0.01399614 404 0.04484792611138613 1.763536 25 72 0.00676224 Mouse Phenotype Single KO abnormal interleukin-1 beta secretion 238 0.00000173637 0.00006680647096638656 2.138314 48 0.01158301 353 0.032623433781869694 1.813922 25 70 0.00676224 Mouse Phenotype Single KO straub tail 295 0.000008663911 0.0002689336712779661 2.544494 29 0.006998069 341 0.03043649847800587 2.293734 14 31 0.003786854 Mouse Phenotype Single KO increased body temperature 325 0.00002337752 0.0006586706173538462 2.451791 28 0.006756757 207 0.008182474016425122 2.462537 16 33 0.004327833 Mouse Phenotype Single KO abnormal lysosome physiology 369 0.00006866999 0.001704095117696477 2.34168 27 0.006515444 277 0.01682749493393502 2.176707 18 42 0.004868813 Mouse Phenotype Single KO abnormal synaptic bouton morphology 383 0.00009280312 0.002218794177127937 4.589095 10 0.002413127 392 0.04153825437244898 3.23208 7 11 0.001893427 Mouse Phenotype Single KO periinsulitis 423 0.0001987358 0.0043021837366430254 7.39102 6 0.001447876 377 0.036453434061007955 5.078983 4 4 0.001081958 Mouse Phenotype abnormal platelet aggregation 37 7.771616e-19 2.0082275831351352e-16 2.938703 92 0.02220077 395 0.018035422606329114 1.729015 32 94 0.008655667 Mouse Phenotype abnormal platelet activation 41 2.463073e-18 5.743766086097561e-16 2.883974 92 0.02220077 568 0.03977317085387324 1.625275 32 100 0.008655667 Mouse Phenotype abnormal platelet physiology 59 1.315815e-14 2.1322893584745765e-12 2.296092 108 0.02606178 376 0.015895765148138296 1.61604 42 132 0.01136056 Mouse Phenotype abnormal mean corpuscular hemoglobin 69 1.376698e-13 1.907624576521739e-11 2.026473 132 0.03185328 443 0.022486500792325056 1.490571 54 184 0.01460644 Mouse Phenotype decreased pre-B cell number 79 1.178291e-12 1.4260304115189874e-10 2.132115 108 0.02606178 361 0.01458078984764543 1.709273 35 104 0.009467136 Mouse Phenotype decreased mean corpuscular hemoglobin 94 2.325468e-11 2.3652978242553193e-9 2.494801 69 0.01665058 285 0.0063530328947368426 1.912864 29 77 0.007844198 Mouse Phenotype abnormal liver iron level 95 2.476008e-11 2.4919065776842107e-9 3.475152 41 0.009893822 504 0.029631834398809523 2.055779 17 42 0.004598323 Mouse Phenotype increased liver iron level 112 3.02194e-10 2.5797114589285714e-8 3.586271 35 0.008445946 488 0.028789366124999997 2.176707 15 35 0.004057344 Mouse Phenotype abnormal circulating interleukin-6 level 114 3.371836e-10 2.8279056136842103e-8 2.001976 98 0.02364865 324 0.009550235022222221 1.61292 47 148 0.01271301 Mouse Phenotype glomerulonephritis 124 9.0461e-10 6.97498081451613e-8 2.068223 86 0.0207529 371 0.015585187664150943 1.650669 39 120 0.01054909 Mouse Phenotype abnormal CD4-positive T cell differentiation 138 2.662897e-9 1.8449245084782606e-7 2.010156 87 0.02099421 532 0.03494036897932331 1.657352 31 95 0.008385177 Mouse Phenotype pancreatic islet hyperplasia 159 1.231656e-8 7.406203154716982e-7 2.466088 51 0.01230695 544 0.037176665498161766 2.00797 17 43 0.004598323 Mouse Phenotype abnormal circulating interleukin-1 level 160 1.313739e-8 7.850411611875001e-7 2.670269 44 0.01061776 473 0.02791130804016913 1.854232 23 63 0.00622126 Mouse Phenotype increased body temperature 196 1.003493e-7 0.0000048951002923469385 2.735012 37 0.008928571 191 0.0013462738979057593 2.612048 18 35 0.004868813 Mouse Phenotype increased lung adenoma incidence 234 6.163976e-7 0.000025185373733333334 2.369732 42 0.01013514 362 0.01466999430248619 1.995315 22 56 0.005950771 Mouse Phenotype abnormal lung adenoma incidence 236 6.976708e-7 0.000028264536096610168 2.358023 42 0.01013514 392 0.01800553617627551 1.960309 22 57 0.005950771 Mouse Phenotype straub tail 257 0.000001363753 0.00005073479545914397 2.697989 31 0.007480695 346 0.012852189109248555 2.380773 15 32 0.004057344 Mouse Phenotype small intestinal inflammation 413 0.00006275564 0.0014528006635351088 2.143414 33 0.00796332 232 0.002592437950603448 2.362318 20 43 0.005409792 Mouse Phenotype hippocampal neuron degeneration 460 0.0001594412 0.0033139506808695656 2.089058 31 0.007480695 176 0.000809416333125 2.785249 17 31 0.004598323 Mouse Phenotype increased circulating iron level 461 0.0001612335 0.0033439338253796096 2.06014 32 0.007722008 544 0.037176665498161766 2.00797 17 43 0.004598323