# 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 histone H2A ubiquitination 98 4.494198e-15 6.034607294081633e-13 3.300925 61 0.005822277 930 0.04226401960215053 1.753692 16 22 0.002054707 GO Biological Process posttranscriptional gene silencing by RNA 101 7.405974e-15 9.649030877821783e-13 2.470642 96 0.009162928 701 0.012704704766048503 1.56027 33 51 0.004237832 GO Biological Process gene silencing by miRNA 105 1.079607e-14 1.3530046202857142e-12 2.604969 86 0.008208457 749 0.016042897627236315 1.589283 29 44 0.003724156 GO Biological Process posttranscriptional gene silencing 106 1.559301e-14 1.935739798018868e-12 2.439001 96 0.009162928 767 0.0191948462946545 1.530265 33 52 0.004237832 GO Biological Process protein kinase B signaling 126 1.724275e-12 1.800772597222222e-10 2.264077 94 0.008972034 549 0.002577052328051002 1.677445 32 46 0.004109413 GO Biological Process negative regulation of multicellular organism growth 158 5.75623e-11 4.794065225949367e-9 3.58506 38 0.003626992 513 0.0015940161062768029 2.411327 11 11 0.001412611 GO Biological Process positive regulation of branching involved in ureteric bud morphogenesis 237 1.257556e-8 6.982354178902953e-7 2.179818 66 0.006299513 579 0.0038107714005181353 2.030591 16 19 0.002054707 GO Biological Process negative regulation of Notch signaling pathway 254 2.469114e-8 0.0000012791760285826772 2.168759 64 0.006108619 315 0.000014973212531428573 2.045974 28 33 0.003595736 GO Biological Process Schwann cell development 266 3.411713e-8 0.0000016877718559022557 2.195168 61 0.005822277 764 0.01889127742015707 1.762123 19 26 0.002439964 GO Biological Process positive regulation of focal adhesion assembly 302 8.802279e-8 0.000003835403621225165 2.064553 66 0.006299513 742 0.015924910072641508 1.808495 18 24 0.002311545 GO Biological Process heart valve formation 338 2.069037e-7 0.000008055165054142012 2.340059 47 0.004486017 833 0.0295255733877551 2.040353 11 13 0.001412611 GO Biological Process metanephric tubule morphogenesis 367 3.786578e-7 0.000013576997248501363 2.48259 40 0.003817887 875 0.03412023428 2.170194 9 10 0.001155772 GO Biological Process myelination in peripheral nervous system 380 5.399518e-7 0.00001869796246368421 2.074986 57 0.005440489 640 0.00754827174828125 1.887125 18 23 0.002311545 GO Biological Process negative regulation of cyclin-dependent protein kinase activity 383 5.802661e-7 0.000019936609947519582 2.210406 49 0.004676911 618 0.005480744792880259 1.854867 20 26 0.002568383 GO Biological Process commissural neuron axon guidance 400 8.566199e-7 0.000028180653160249998 2.37081 41 0.003913334 733 0.015673148127694405 2.411327 8 8 0.001027353 GO Biological Process corpus callosum development 457 0.00000312721 0.00009004585643326039 2.329075 38 0.003626992 657 0.00851110300045662 2.089816 13 15 0.001669449 GO Biological Process notochord morphogenesis 464 0.000003789608 0.00010747295618965517 2.116821 46 0.00439057 875 0.03412023428 2.170194 9 10 0.001155772 GO Biological Process regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator 506 0.000007717377 0.00020069755719960477 3.033177 22 0.002099838 910 0.04017490419450549 1.929061 12 15 0.00154103 GO Biological Process negative regulation of signal transduction by p53 class mediator 514 0.000008564208 0.00021925372192996108 2.066886 45 0.004295123 779 0.021835020934531452 1.722376 20 28 0.002568383 GO Biological Process metanephric nephron tubule morphogenesis 657 0.00004117532 0.0008246971626788433 2.226354 32 0.003054309 733 0.015673148127694405 2.411327 8 8 0.001027353 GO Cellular Component transcriptional repressor complex 21 1.407522e-20 1.1581895314285713e-18 2.07725 199 0.01899399 64 0.00011628549 1.597867 55 83 0.007063054 GO Cellular Component PcG protein complex 22 3.866783e-20 3.037182283636363e-18 2.678949 116 0.01107187 68 0.00020554046682352942 1.782285 34 46 0.004366251 GO Cellular Component ruffle membrane 26 5.095138e-17 3.3863071015384615e-15 2.021015 173 0.01651236 59 0.00009041490549152542 1.589283 58 88 0.007448311 GO Cellular Component nuclear transcriptional repressor complex 30 8.643575e-14 4.9786992000000005e-12 2.770414 72 0.006872196 103 0.012227936994174756 1.746133 21 29 0.002696802 GO Molecular Function ankyrin binding 141 0.00003383759 0.0010132078367375888 2.021303 41 0.003913334 95 0.007451834444210526 2.030591 16 19 0.002054707 Human Phenotype Aplasia cutis congenita 62 3.230738e-8 0.0000034772120441935483 2.395092 51 0.004867806 199 0.044421020889447244 1.837201 16 21 0.002054707 Mouse Phenotype Single KO abnormal sternebra number 1 4.848151e-33 4.4394518707e-29 8.681622 56 0.005345042 533 0.0035514350742964352 2.22584 12 13 0.00154103 Mouse Phenotype Single KO vertebral transformation 2 1.142766e-23 5.2321541309999996e-20 2.339346 178 0.0169896 201 0.0000065395831651741295 1.651234 63 92 0.008090407 Mouse Phenotype Single KO thoracic vertebral transformation 13 4.565832e-18 3.216101817230769e-15 2.811078 95 0.009067481 571 0.0058975650481611205 1.607551 32 48 0.004109413 Mouse Phenotype Single KO increased sternebra number 15 7.533217e-18 4.5987778712666666e-15 6.960417 34 0.003245204 816 0.023636607246323525 2.411327 7 7 0.0008989341 Mouse Phenotype Single KO cervical vertebral transformation 39 2.381597e-13 5.5918676228205125e-11 2.627414 76 0.007253985 626 0.010419042314696486 1.649855 26 38 0.003338898 Mouse Phenotype Single KO abnormal interventricular septum thickness 40 4.861761e-13 1.112978636925e-10 2.342312 92 0.00878114 599 0.007863305460601001 1.626244 29 43 0.003724156 Mouse Phenotype Single KO sacral vertebral transformation 42 6.805725e-13 1.4838100910714286e-10 4.399231 36 0.003436098 1031 0.0483015318913676 1.894614 11 14 0.001412611 Mouse Phenotype Single KO abnormal vibrissa number 56 1.515888e-11 2.4787475742857142e-9 2.990664 52 0.004963253 655 0.012205321961526718 2.411327 8 8 0.001027353 Mouse Phenotype Single KO decreased molar number 57 1.79339e-11 2.8810653035087715e-9 3.234357 46 0.00439057 655 0.012205321961526718 2.411327 8 8 0.001027353 Mouse Phenotype Single KO lumbar vertebral transformation 77 2.86542e-10 3.407617005194805e-8 2.554704 59 0.005631383 1041 0.05001018581940442 1.522943 24 38 0.00308206 Mouse Phenotype Single KO thick ventricular wall 122 1.263237e-8 9.481525581147541e-7 2.098906 72 0.006872196 826 0.024946605778450363 1.567362 26 40 0.003338898 Mouse Phenotype Single KO abnormal odontoid process morphology 128 1.76148e-8 0.0000012601462781249998 2.418657 52 0.004963253 620 0.010297879491612904 1.985798 14 17 0.001797868 Mouse Phenotype Single KO fusion of atlas and odontoid process 155 9.566665e-8 0.000005651738800322581 2.702008 38 0.003626992 832 0.024970489645432692 2.170194 9 10 0.001155772 Mouse Phenotype Single KO abnormal thoracic cavity morphology 156 9.69027e-8 0.000005688064255769231 2.210182 56 0.005345042 908 0.035002803941629954 1.708023 17 24 0.002183126 Mouse Phenotype Single KO abnormal ilium morphology 192 2.971819e-7 0.000014173409678645833 2.242809 50 0.004772358 832 0.024970489645432692 2.170194 9 10 0.001155772 Mouse Phenotype Single KO persistent right dorsal aorta 199 3.458843e-7 0.000015915892136180905 2.155017 54 0.005154147 664 0.012350987802259036 2.066851 12 14 0.00154103 Mouse Phenotype Single KO small basisphenoid bone 212 6.263021e-7 0.000027052114762735852 2.12916 53 0.0050587 787 0.021746979080050827 2.040353 11 13 0.001412611 Mouse Phenotype Single KO delayed hair appearance 219 7.842202e-7 0.0000327904309196347 2.27378 45 0.004295123 920 0.036674103504347834 1.843956 13 17 0.001669449 Mouse Phenotype Single KO enlarged inguinal lymph nodes 238 0.000001460853 0.00005620601227310924 2.930528 27 0.002577074 655 0.012205321961526718 2.411327 8 8 0.001027353 Mouse Phenotype Single KO abnormal central nervous system regeneration 284 0.000004491754 0.00014482743442957745 3.048502 23 0.002195285 568 0.005833441055633803 2.411327 9 9 0.001155772 Mouse Phenotype abnormal sternebra number 1 4.848151e-33 4.6353171711e-29 8.681622 56 0.005345042 796 0.002482950861557789 2.22584 12 13 0.00154103 Mouse Phenotype sacral vertebral transformation 17 6.806193e-21 3.827883016058824e-18 5.661604 48 0.004581464 624 0.0005970571766346155 2.066851 18 21 0.002311545 Mouse Phenotype thoracic vertebral transformation 19 1.927804e-20 9.700912654736843e-18 2.776056 111 0.01059464 536 0.0001924825514552239 1.692159 40 57 0.005136766 Mouse Phenotype abnormal salivary gland duct morphology 28 2.972357e-18 1.014953759892857e-15 3.48822 70 0.006681302 1012 0.008461344230335968 2.066851 12 14 0.00154103 Mouse Phenotype abnormal rib development 31 6.154293e-18 1.8981030765483873e-15 2.91323 89 0.008494798 1031 0.009008108977303588 1.680622 23 33 0.002953641 Mouse Phenotype increased sternebra number 35 7.533217e-18 2.0578596496285715e-15 6.960417 34 0.003245204 1189 0.01693727531455004 2.411327 7 7 0.0008989341 Mouse Phenotype increased skin tumor incidence 42 1.066471e-16 2.4277450549999998e-14 2.157097 145 0.01383984 1319 0.025648850356330553 1.354678 50 89 0.006420958 Mouse Phenotype abnormal sublingual duct morphology 52 2.268492e-15 4.1709715407692306e-13 4.692938 41 0.003913334 1456 0.033366905006868126 2.411327 6 6 0.000770515 Mouse Phenotype abnormal thymus development 55 7.879996e-15 1.3698298501090908e-12 2.441609 98 0.009353823 1239 0.01964199801937046 1.662984 20 29 0.002568383 Mouse Phenotype abnormal cervical atlas morphology 67 7.118045e-13 1.0157556454477613e-10 2.050894 122 0.01164455 691 0.0012268338973806078 1.637882 36 53 0.00462309 Mouse Phenotype cervical vertebral transformation 83 5.28086e-12 6.083168971084337e-10 2.285908 88 0.008399351 638 0.0006924615692163008 1.738398 31 43 0.003980994 Mouse Phenotype abnormal third pharyngeal arch artery morphology 90 9.013788e-12 9.575647452000002e-10 2.430626 76 0.007253985 1485 0.034356548907070704 1.722376 15 21 0.001926287 Mouse Phenotype abnormal vibrissa number 95 1.515888e-11 1.525621596631579e-9 2.990664 52 0.004963253 1001 0.008338857772627372 2.411327 8 8 0.001027353 Mouse Phenotype abnormal kidney medulla development 101 3.05817e-11 2.8949666702970296e-9 4.366805 31 0.002958862 1189 0.01693727531455004 2.411327 7 7 0.0008989341 Mouse Phenotype decreased DN4 thymocyte number 105 3.593647e-11 3.2722722825714284e-9 2.536031 66 0.006299513 1403 0.030973864665716323 1.776767 14 19 0.001797868 Mouse Phenotype abnormal frontonasal suture morphology 111 6.169736e-11 5.3143104410810816e-9 3.43867 40 0.003817887 1456 0.033366905006868126 2.411327 6 6 0.000770515 Mouse Phenotype aerophagia 126 1.95475e-10 1.4832829166666666e-8 3.089804 44 0.004199675 1456 0.033366905006868126 2.411327 6 6 0.000770515 Mouse Phenotype decreased molar number 127 1.955504e-10 1.472171160944882e-8 2.957992 47 0.004486017 864 0.004004142373611111 2.411327 9 9 0.001155772 Mouse Phenotype rib bifurcation 134 3.097464e-10 2.2100636794029848e-8 2.421883 65 0.006204066 1137 0.015369236023746702 1.631192 23 34 0.002953641 Mouse Phenotype small basisphenoid bone 138 5.270838e-10 3.651774066521739e-8 2.370662 66 0.006299513 970 0.006872549309690722 1.985798 14 17 0.001797868