# 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 transforming growth factor beta receptor signaling pathway 21 6.396831e-14 4.008376149e-11 3.177298 58 0.03598015 183 0.037658526869945357 2.113013 22 100 0.0112532 GO Biological Process regulation of cellular response to transforming growth factor beta stimulus 22 8.183193e-14 4.894665303954545e-11 3.158071 58 0.03598015 203 0.04515960719261084 2.071581 22 102 0.0112532 GO Biological Process regulation of cytokine production involved in immune response 120 1.542346e-8 0.0000016913109178333334 3.175325 33 0.02047146 218 0.04931529616880734 2.36421 16 65 0.008184143 GO Biological Process T cell selection 236 0.00000984687 0.0005490464505508475 2.889343 23 0.01426799 159 0.02647489831572327 3.033033 12 38 0.006138107 GO Biological Process Fc-epsilon receptor signaling pathway 259 0.00001734966 0.0008814833047876448 2.117612 39 0.02419355 215 0.0485775379427907 1.952155 25 123 0.01278772 GO Biological Process transforming growth factor beta receptor signaling pathway 281 0.00002991419 0.0014008570327758007 2.163623 35 0.02171216 127 0.01826473344566929 2.272057 22 93 0.0112532 GO Biological Process cell proliferation in forebrain 306 0.00004283425 0.0018420127312091502 2.69226 22 0.01364764 148 0.02071036327972973 3.557261 10 27 0.00511509 GO Biological Process positive regulation of the force of heart contraction 326 0.00006064461 0.0024479215429141104 4.829916 10 0.006203474 185 0.03821300336378378 7.683683 4 5 0.002046036 GO Biological Process myoblast fusion 399 0.0002051126 0.006764603266666667 3.342549 13 0.008064516 187 0.03817933964064171 3.841841 8 20 0.004092072 GO Biological Process establishment of epithelial cell polarity 559 0.001084535 0.02553022551878354 2.471403 16 0.009925558 162 0.026702746416049382 3.430216 10 28 0.00511509 GO Biological Process epithelial cell differentiation involved in prostate gland development 673 0.002303412 0.04503803641604755 2.675575 12 0.007444169 93 0.00915961908870968 5.602685 7 12 0.003580563 GO Cellular Component calcium channel complex 54 0.00004974881 0.00159196192 2.29836 29 0.01799007 7 0.04310900845714285 2.591718 17 63 0.008695652 GO Molecular Function transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding 4 8.31477e-16 8.776239735e-13 2.654926 88 0.05459057 18 0.0001232581000444444 2.455312 34 133 0.0173913 GO Molecular Function transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding 9 1.915397e-12 8.985340148888889e-10 2.074791 110 0.06823821 12 0.000025937628308333332 2.167411 51 226 0.02608696 GO Molecular Function extracellular matrix binding 116 0.0006029632 0.02194578129655173 2.267481 21 0.0130273 20 0.030794782470000004 2.824883 15 51 0.007672634 Human Phenotype Premature skin wrinkling 5 1.694057e-9 0.0000022608884721999997 6.273064 18 0.01116625 19 0.015695180480526316 5.122455 8 15 0.004092072 Human Phenotype Hypotelorism 6 1.701655e-8 0.00001892523969166667 3.306775 31 0.01923077 46 0.04640575376956522 3.033033 12 38 0.006138107 Mouse Phenotype Single KO abnormal B cell differentiation 25 1.175849e-11 4.3068997172e-9 2.123738 97 0.0601737 85 0.0020211890592941174 1.85149 48 249 0.02455243 Mouse Phenotype Single KO abnormal immature B cell number 42 3.580913e-10 7.807242938333333e-8 2.64509 54 0.03349876 88 0.0020909874226136362 2.336255 27 111 0.01381074 Mouse Phenotype Single KO abnormal immature B cell morphology 43 4.033514e-10 8.589508766976744e-8 2.635991 54 0.03349876 111 0.0038271401015315316 2.235554 27 116 0.01381074 Mouse Phenotype Single KO increased immature B cell number 71 5.108901e-9 6.589043162957746e-7 3.579732 30 0.01861042 98 0.002654319033469388 3.361611 14 40 0.007161125 Mouse Phenotype Single KO abnormal stomach epithelium morphology 77 1.071501e-8 0.0000012742512541558441 3.88335 26 0.01612903 246 0.022009582804471545 3.01859 11 35 0.005626598 Mouse Phenotype Single KO abnormal circadian phase 89 2.494203e-8 0.000002566226614719101 3.607961 27 0.01674938 182 0.01171948079230769 3.557261 10 27 0.00511509 Mouse Phenotype Single KO decreased mature B cell number 91 2.766082e-8 0.0000027834080081318684 2.060923 70 0.04342432 127 0.004900543758740158 1.874069 40 205 0.02046036 Mouse Phenotype Single KO abnormal sublingual duct morphology 94 2.97478e-8 0.000002897878772340426 13.92724 9 0.005583127 300 0.034403001616666665 9.604604 3 3 0.001534527 Mouse Phenotype Single KO abnormal stomach wall morphology 109 8.182292e-8 0.000006873875948990826 2.702736 38 0.0235732 250 0.02389381795 2.274775 18 76 0.009207161 Mouse Phenotype Single KO abnormal stomach mucosa morphology 123 2.465908e-7 0.000018357983378861787 2.709394 35 0.02171216 285 0.030387976808421053 2.267754 17 72 0.008695652 Mouse Phenotype Single KO small alisphenoid bone 127 3.387474e-7 0.00002442448773070866 5.68495 14 0.008684864 178 0.010980652560674157 6.860431 5 7 0.002557545 Mouse Phenotype Single KO abnormal vitreous body morphology 147 0.000001120765 0.00006981527282312925 2.277073 43 0.02667494 189 0.012947741216402115 2.369967 19 77 0.00971867 Mouse Phenotype Single KO salt-sensitive hypertension 150 0.000001188412 0.00007254859122666667 6.751545 11 0.006823821 290 0.03378415155862069 5.335891 5 9 0.002557545 Mouse Phenotype Single KO abnormal transitional stage B cell morphology 181 0.000007686978 0.00038889313561325963 3.022981 22 0.01364764 271 0.02719741181697417 2.537065 14 53 0.007161125 Mouse Phenotype Single KO abnormal vitamin homeostasis 186 0.000009193925 0.00045262780228494626 2.987555 22 0.01364764 254 0.02437590876417323 2.483949 15 58 0.007672634 Mouse Phenotype Single KO straub tail 206 0.00001634058 0.000726362577961165 3.608928 16 0.009925558 274 0.02774773523430657 3.098259 10 31 0.00511509 Mouse Phenotype Single KO decreased macrophage cell number 232 0.00002777807 0.0010963956335775862 2.118866 37 0.02295285 283 0.03017666376607774 2.110902 20 91 0.01023018 Mouse Phenotype Single KO abnormal ureteric bud elongation 243 0.00003552692 0.0013387654586008231 3.379019 16 0.009925558 303 0.03431049325082509 4.432894 6 13 0.003069054 Mouse Phenotype Single KO increased transitional stage B cell number 280 0.00007298392 0.002386834840857143 3.505338 14 0.008684864 174 0.010447610735632185 3.929156 9 22 0.004603581 Mouse Phenotype Single KO impaired lung alveolus development 341 0.0001715937 0.004607869533431085 2.332439 24 0.01488834 196 0.014945335921428571 3.033033 12 38 0.006138107 Mouse Phenotype abnormal B cell differentiation 12 1.11152e-14 8.8560356e-12 2.123433 125 0.07754342 43 0.00003986361116511628 1.88761 68 346 0.03478261 Mouse Phenotype abnormal immature B cell number 21 2.243018e-13 1.0212140522857141e-10 2.598495 76 0.0471464 32 0.000007256156620312499 2.4294 43 170 0.02199488 Mouse Phenotype increased B cell apoptosis 26 3.819073e-13 1.4043906520384616e-10 4.049721 40 0.0248139 394 0.02305199081040609 2.601247 13 48 0.006649616 Mouse Phenotype abnormal immature B cell morphology 27 3.959246e-13 1.4020130002222225e-10 2.567934 76 0.0471464 37 0.000026141918764864863 2.320213 43 178 0.02199488 Mouse Phenotype abnormal B cell apoptosis 37 2.167939e-12 5.602071561891892e-10 3.366623 47 0.02915633 239 0.006110779135983264 2.466047 19 74 0.00971867 Mouse Phenotype decreased B cell proliferation 49 1.903744e-11 3.7146319151020406e-9 2.873969 54 0.03349876 278 0.010871503571223021 2.069958 25 116 0.01278772 Mouse Phenotype decreased mature B cell number 50 1.935884e-11 3.7017973848e-9 2.076233 100 0.06203474 79 0.00020837691193670887 1.887801 57 290 0.02915601 Mouse Phenotype decreased T cell proliferation 67 3.735853e-10 5.3311179899999996e-8 2.209974 76 0.0471464 183 0.003987418184754098 1.848773 41 213 0.02097187 Mouse Phenotype decreased immature B cell number 69 4.887914e-10 6.77294866e-8 2.542271 57 0.0353598 149 0.002195443020805369 2.166452 30 133 0.01534527 Mouse Phenotype decreased thymocyte number 72 8.387988e-10 1.1138549065e-7 2.195512 74 0.04590571 155 0.0025300379883870967 1.951738 38 187 0.01943734 Mouse Phenotype increased immature B cell number 81 2.363502e-9 2.7898077311111116e-7 3.104781 38 0.0235732 56 0.00007196142991607142 3.201535 22 66 0.0112532 Mouse Phenotype hyporesponsive to tactile stimuli 82 3.413653e-9 3.9802361381707317e-7 3.311857 34 0.02109181 496 0.03362852363104838 2.448232 13 51 0.006649616 Mouse Phenotype abnormal B cell proliferation 83 3.559452e-9 4.100231394216867e-7 2.266957 64 0.03970223 331 0.015162238192749243 1.77863 35 189 0.01790281 Mouse Phenotype abnormal pre-B cell morphology 89 6.547591e-9 7.033878376516854e-7 2.359858 57 0.0353598 192 0.0043756205321875 2.094237 29 133 0.01483376 Mouse Phenotype abnormal B cell activation 98 1.468701e-8 0.0000014328826796938776 2.165514 65 0.04032258 435 0.026513554151724135 1.686662 36 205 0.01841432 Mouse Phenotype abnormal double-negative T cell morphology 111 5.101143e-8 0.000004393876416486486 2.039575 69 0.04280397 432 0.026443114430555557 1.731978 33 183 0.0168798 Mouse Phenotype abnormal circadian phase 113 5.577196e-8 0.00000471890008460177 3.46436 27 0.01674938 355 0.016690731963380282 3.201535 10 30 0.00511509 Mouse Phenotype increased mature B cell number 115 6.467319e-8 0.000005376872779043478 2.135959 61 0.03784119 475 0.03092011297263158 1.692003 34 193 0.0173913 Mouse Phenotype impaired hematopoiesis 131 1.912159e-7 0.000013955841373282443 2.788542 34 0.02109181 369 0.017401579668292682 2.332547 17 70 0.008695652 Mouse Phenotype abnormal CD4-positive, alpha-beta memory T cell number 151 5.432736e-7 0.00003439893304370861 3.346439 24 0.01488834 223 0.005610909293273542 3.121496 13 40 0.006649616