# 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 DNA replication-dependent nucleosome assembly 3 2.19398e-34 9.623527606666666e-31 23.45159 34 0.009368972 222 0.00014721198544144146 2.830374 19 32 0.004823559 GO Biological Process platelet-derived growth factor receptor-beta signaling pathway 10 2.178246e-27 2.8663539114e-24 15.97656 32 0.008817856 356 0.0031406814473595506 4.766946 6 6 0.001523229 GO Biological Process negative regulation of vascular endothelial growth factor receptor signaling pathway 15 2.815552e-24 2.4699899178666664e-21 11.3185 34 0.009368972 478 0.01343301002217573 4.085954 6 7 0.001523229 GO Biological Process chromatin silencing at rDNA 16 5.044293e-24 4.1486157241875e-21 10.59132 35 0.00964453 199 0.00007273746357286432 2.780718 21 36 0.005331302 GO Biological Process regulation of hematopoietic progenitor cell differentiation 18 3.95134e-23 2.8886490588888886e-20 3.910533 78 0.02149352 344 0.0021211925470930233 1.771785 42 113 0.0106626 GO Biological Process chromatin silencing 24 7.002457e-21 3.839388819291666e-18 4.554123 59 0.01625792 126 0.000001948252611904762 2.21147 45 97 0.01142422 GO Biological Process gene silencing 40 5.916018e-20 1.94622202155e-17 2.842702 103 0.02838247 183 0.00002751464206830601 1.774363 67 180 0.01700939 GO Biological Process regulation of hematopoietic stem cell differentiation 50 7.188019e-19 1.8917428404200001e-16 3.742913 66 0.01818683 388 0.004980837508762887 1.758679 38 103 0.009647119 GO Biological Process regulation of posttranscriptional gene silencing 58 4.184064e-18 9.492775547586206e-16 3.2166 77 0.02121797 259 0.00041835077557915055 1.880538 43 109 0.01091648 GO Biological Process regulation of gene silencing by RNA 58 4.184064e-18 9.492775547586206e-16 3.2166 77 0.02121797 259 0.00041835077557915055 1.880538 43 109 0.01091648 GO Biological Process regulation of gene expression, epigenetic 60 6.216944e-18 1.3634794349333333e-15 2.338799 130 0.03582254 181 0.00002612512977292818 1.653054 86 248 0.02183295 GO Biological Process regulation of gene silencing by miRNA 62 1.212079e-17 2.5725399291935485e-15 3.212176 75 0.02066685 303 0.0010004787700000001 1.843819 41 106 0.01040873 GO Biological Process negative regulation of gene expression, epigenetic 70 3.752872e-17 7.0548632354285714e-15 3.409419 67 0.01846239 117 0.00000112463517217094 2.132581 51 114 0.01294745 GO Biological Process protein heterotetramerization 76 3.01144e-16 5.214149863157895e-14 5.105029 40 0.01102232 293 0.0008259774057337883 2.383473 22 44 0.005585174 GO Biological Process regulation of gene silencing 77 3.491628e-16 5.967056214545454e-14 2.841915 82 0.02259576 311 0.0011059149401607717 1.746667 48 131 0.01218583 GO Biological Process negative regulation of megakaryocyte differentiation 86 1.761123e-15 2.694722971744186e-13 21.49096 15 0.00413337 577 0.03055597340034662 2.648303 10 18 0.002538715 GO Biological Process placenta development 102 7.507327e-15 9.68518784245098e-13 2.193026 121 0.03334252 435 0.008115067573333334 1.599865 49 146 0.01243971 GO Biological Process regulation of intrinsic apoptotic signaling pathway 113 3.668318e-14 4.271805005486726e-12 2.444058 92 0.02535134 515 0.016934989103300973 1.537724 50 155 0.01269358 GO Biological Process platelet-derived growth factor receptor signaling pathway 120 6.341656e-14 6.954154275333333e-12 3.323948 55 0.01515569 366 0.003652949186065574 2.455699 17 33 0.004315816 GO Biological Process protein tetramerization 124 9.522402e-14 1.010526515467742e-11 2.376023 94 0.02590245 264 0.00043869638687499995 1.754501 53 144 0.01345519 GO Cellular Component nuclear nucleosome 24 4.210521e-22 3.03157512e-20 9.623525 34 0.009368972 49 0.0003792141844897959 2.502647 21 40 0.005331302 GO Cellular Component nuclear chromatin 25 1.402586e-21 9.694674432e-20 2.071338 206 0.05676495 31 8.061621677419354e-7 1.644295 109 316 0.027672 GO Cellular Component nucleosome 29 1.31235e-18 7.819795862068965e-17 4.325337 55 0.01515569 19 1.7840872421052633e-9 2.406173 53 105 0.01345519 GO Cellular Component RNA polymerase II transcription factor complex 33 4.121433e-17 2.158132189090909e-15 2.471669 111 0.03058694 59 0.0036595613288135593 1.673889 46 131 0.01167809 GO Cellular Component nuclear transcription factor complex 35 1.370165e-16 6.7647003428571426e-15 2.269599 127 0.03499587 50 0.00040705459200000003 1.711211 56 156 0.01421681 GO Cellular Component DNA packaging complex 36 5.374967e-16 2.5799841599999995e-14 3.639482 57 0.01570681 23 9.061797286956522e-9 2.298349 54 112 0.01370906 GO Cellular Component nuclear chromosome, telomeric region 38 4.822077e-15 2.192776067368421e-13 2.986131 70 0.01928906 47 0.00022773025225531916 1.805661 50 132 0.01269358 GO Cellular Component chromosome, telomeric region 41 1.143614e-14 4.819914614634146e-13 2.680459 81 0.0223202 58 0.003128824055172414 1.598497 56 167 0.01421681 GO Cellular Component protein-DNA complex 46 7.967244e-12 2.992912528695652e-10 2.168712 96 0.02645357 24 7.9089768e-8 1.887899 80 202 0.02030972 GO Cellular Component transcription factor AP-1 complex 56 3.65578e-9 1.1280692571428572e-7 10.47677 12 0.003306696 69 0.010153642852173914 4.766946 5 5 0.001269358 GO Cellular Component axon cytoplasm 81 0.000001262435 0.000026931946666666668 2.818899 29 0.007991182 46 0.00008986986156521739 2.62182 22 40 0.005585174 GO Cellular Component EARP complex 190 0.00160305 0.014579317894736842 6.066452 5 0.00137779 91 0.036729798329670334 4.766946 4 4 0.001015486 GO Cellular Component chromatin silencing complex 198 0.002160586 0.01885602327272727 4.64304 6 0.001653348 88 0.03147442036363637 3.575209 6 8 0.001523229 GO Cellular Component dense body 208 0.00309381 0.025702421538461535 3.756338 7 0.001928906 93 0.037306368 3.972455 5 6 0.001269358 GO Cellular Component costamere 211 0.003653264 0.029918673895734594 2.074712 18 0.004960044 70 0.011754937234285714 2.759811 11 19 0.002792587 GO Cellular Component Cdc73/Paf1 complex 222 0.004929531 0.03837040345945946 3.117228 8 0.002204464 88 0.03147442036363637 3.575209 6 8 0.001523229 GO Molecular Function cadherin binding 3 3.187733e-29 4.486202908666667e-26 2.300162 225 0.06200055 7 1.3144129437142856e-8 1.787605 114 304 0.02894136 GO Molecular Function chromatin DNA binding 14 4.522768e-15 1.363937606857143e-12 2.749076 80 0.02204464 64 0.027052049396875003 1.695933 37 104 0.009393247 GO Molecular Function structure-specific DNA binding 21 5.043084e-13 1.0139000308571428e-10 2.270606 97 0.02672913 48 0.006020308124999999 1.680434 49 139 0.01243971 GO Molecular Function cAMP response element binding protein binding 39 2.306772e-8 0.00000249722856 7.879201 13 0.003582254 51 0.00962918162745098 4.171078 7 8 0.001777101 GO Molecular Function 14-3-3 protein binding 45 8.693866e-8 0.000008156778278222221 2.897899 34 0.009368972 53 0.010371749267924526 2.66949 14 25 0.003554202 GO Molecular Function RNA methyltransferase activity 50 3.655148e-7 0.000030864069712 2.718427 34 0.009368972 62 0.023124568158064514 1.972529 24 58 0.006092917 GO Molecular Function mitogen-activated protein kinase binding 58 0.000001160879 0.00008450398513793104 3.210048 24 0.006613392 63 0.0255996748 2.47175 14 27 0.003554202 Human Phenotype Dermal atrophy 2 1.729373e-15 5.7700530145e-12 3.63934 55 0.01515569 37 0.03999314661891892 2.129912 21 47 0.005331302 Human Phenotype Hypotelorism 43 0.000001704532 0.0002645195822325582 2.17961 46 0.01267567 20 0.022700818643 2.383473 19 38 0.004823559 Human Phenotype Pelvic kidney 139 0.0001665413 0.007995180538848921 6.242152 7 0.001928906 22 0.025772078419090908 4.766946 6 6 0.001523229 Human Phenotype Premature graying of hair 267 0.0017891 0.04471409850187266 2.353834 16 0.004408928 32 0.035807130321875 3.177964 10 15 0.002538715 Mouse Phenotype Single KO extramedullary hematopoiesis 1 2.309263e-28 2.1145921291e-24 3.502101 111 0.03058694 240 0.027052418268333333 1.630797 39 114 0.00990099 Mouse Phenotype Single KO abnormal induced cell death 22 2.463495e-15 1.0253738052272726e-12 2.172348 128 0.03527142 304 0.04252164400328948 1.423306 63 211 0.01599391 Mouse Phenotype Single KO rectal prolapse 80 1.492716e-11 1.7086000515000001e-9 3.468376 42 0.01157344 146 0.005300397739726028 2.648303 15 27 0.003808073 Mouse Phenotype Single KO cortical renal glomerulopathies 83 2.807225e-11 3.0970794367469876e-9 2.108016 97 0.02672913 324 0.04809024648765432 1.529692 43 134 0.01091648 Mouse Phenotype Single KO decreased macrophage cell number 95 1.403902e-10 1.3532137488421052e-8 2.162215 85 0.02342243 189 0.011764400032804233 1.781057 34 91 0.008631632 Mouse Phenotype Single KO abnormal keratinocyte morphology 158 1.506937e-8 8.733558296835442e-7 2.656072 44 0.01212455 184 0.010345419347826085 2.097456 22 50 0.005585174 Mouse Phenotype Single KO osteosclerosis 171 1.983539e-8 0.0000010621793346783626 4.039641 24 0.006613392 246 0.03026293952113821 3.177964 8 12 0.002030972 Mouse Phenotype Single KO abnormal liver sinusoid morphology 179 2.646669e-8 0.0000013539412308938547 2.454929 49 0.01350234 284 0.03948727325 1.805661 25 66 0.006346789 Mouse Phenotype Single KO increased vascular permeability 309 0.000003689053 0.00010932251883818771 2.520744 32 0.008817856 282 0.03950167441843972 2.0779 17 39 0.004315816 Mouse Phenotype Single KO abnormal rectum morphology 321 0.000005721662 0.00016321887518380062 2.097203 45 0.01240011 194 0.011930693060824742 2.258027 18 38 0.004569688 Mouse Phenotype Single KO persistent right 6th pharyngeal arch artery 340 0.00001105987 0.00029786832232352943 6.750034 9 0.002480022 214 0.017348689599065423 4.766946 5 5 0.001269358 Mouse Phenotype Single KO absent ductus venosus valve 400 0.0000427269 0.0009781255582499999 2.698742 22 0.006062276 153 0.006460670477777778 2.816832 13 22 0.00330033 Mouse Phenotype Single KO increased hepatocyte apoptosis 475 0.0001159 0.002234308 2.191729 29 0.007991182 275 0.03732303294909091 2.042977 18 42 0.004569688 Mouse Phenotype Single KO abnormal epidermis stratum basale morphology 494 0.0001524018 0.0028249864020242917 2.094056 31 0.008542298 255 0.032358054990196075 2.179175 16 35 0.004061945 Mouse Phenotype Single KO absent chorion 521 0.0002022535 0.0035547702485604605 2.698705 18 0.004960044 276 0.03736338009057971 2.860168 9 15 0.002284844 Mouse Phenotype Single KO decreased myocardial fiber number 542 0.0002379578 0.004020257517712177 3.124965 14 0.003857812 246 0.03026293952113821 3.177964 8 12 0.002030972 Mouse Phenotype extramedullary hematopoiesis 1 1.776159e-27 1.6981856199e-23 2.746219 153 0.04216037 157 0.0004089524703057325 1.688861 62 175 0.01574004 Mouse Phenotype abnormal mesangial matrix morphology 21 6.110181e-18 2.7818781210000004e-15 3.423413 70 0.01928906 555 0.038887550048648654 1.869391 20 51 0.005077431 Mouse Phenotype abnormal mesangial cell morphology 24 1.481317e-17 5.90119659875e-15 3.793559 60 0.01653348 515 0.031628066475728155 1.906778 20 50 0.005077431 Mouse Phenotype abnormal keratinocyte morphology 51 2.253993e-14 4.225573935882353e-12 2.608789 83 0.02287131 324 0.007165338001851852 1.781057 34 91 0.008631632 Mouse Phenotype abnormal epidermis stratum granulosum morphology 66 1.457272e-13 2.1110572109090908e-11 2.706121 73 0.02011573 544 0.036808373669117656 1.68955 28 79 0.007108403 Mouse Phenotype cortical renal glomerulopathies 82 7.166974e-13 8.356516879756097e-11 2.006185 127 0.03499587 357 0.010332240609243698 1.505351 60 190 0.01523229 Mouse Phenotype abnormal renal glomerulus basement membrane thickness 92 3.942313e-12 4.0970059340217384e-10 3.096812 52 0.01432902 352 0.009781750452272727 2.156476 19 42 0.004823559 Mouse Phenotype abnormal liver sinusoid morphology 126 8.539747e-11 6.480041354523809e-9 2.473655 66 0.01818683 424 0.01666574076580189 1.772326 29 78 0.007362275 Mouse Phenotype abnormal epidermis stratum basale morphology 128 1.021174e-10 7.6276911046875e-9 2.524873 63 0.01736015 304 0.005171025964144736 2.019892 25 59 0.006346789 Mouse Phenotype rectal prolapse 139 2.172705e-10 1.4944771586330935e-8 2.900722 48 0.01322678 223 0.001814149158161435 2.447891 19 37 0.004823559 Mouse Phenotype decreased osteoclast cell number 172 1.283335e-9 7.133701125e-8 2.276049 68 0.01873794 312 0.005705189663461539 1.950114 27 66 0.006854532 Mouse Phenotype enlarged liver sinusoidal spaces 176 1.724926e-9 9.370464480681819e-8 2.90645 43 0.01184899 327 0.007165618637614679 2.209073 19 41 0.004823559 Mouse Phenotype abnormal renal glomerulus basement membrane morphology 178 2.379945e-9 1.278351356460674e-7 2.51576 54 0.01488013 534 0.03585956896067416 1.853812 21 54 0.005331302 Mouse Phenotype osteosclerosis 202 1.397412e-8 6.614186203960397e-7 3.973165 25 0.00688895 326 0.007127778290797545 3.300193 9 13 0.002284844 Mouse Phenotype increased renal glomerulus basement membrane thickness 260 1.435846e-7 0.000005280047540769231 2.575961 40 0.01102232 356 0.010151010384269663 2.200129 18 39 0.004569688 Mouse Phenotype abnormal circulating interleukin-10 level 266 1.961634e-7 0.000007050820554135338 3.174366 28 0.007715624 447 0.019273703338926175 2.179175 16 35 0.004061945 Mouse Phenotype decreased bone mineralization 268 2.10394e-7 0.000007505884455223881 2.150268 56 0.01543125 481 0.025233685384615383 1.945692 20 49 0.005077431 Mouse Phenotype osteoarthritis 282 4.014543e-7 0.000013611009086170214 2.80765 32 0.008817856 452 0.020400948740707962 2.383473 13 26 0.00330033 Mouse Phenotype abnormal endoderm morphology 329 0.000001608292 0.000046738236510638296 3.931 18 0.004960044 579 0.043369835393782384 3.033511 7 11 0.001777101 Mouse Phenotype absent segment of posterior cerebral artery 356 0.000002472263 0.00006639692849157303 3.501118 20 0.00551116 566 0.0400898304434629 2.383473 11 22 0.002792587