# 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 heterochromatin organization 123 3.065981e-25 3.2801011365040647e-23 4.599746 72 0.004633801 563 0.0014748700692007104 2.103394 13 13 0.001456256 GO Biological Process heterochromatin assembly 129 5.219252e-24 5.324041633178296e-22 5.144267 61 0.003925859 747 0.010364456463855422 2.103394 10 10 0.001120197 GO Biological Process negative regulation of cyclin-dependent protein serine/threonine kinase activity 205 1.817973e-18 1.1669613027804878e-16 2.998288 88 0.005663535 694 0.006300845850288184 1.752828 20 24 0.002240394 GO Biological Process paraxial mesoderm morphogenesis 229 3.521447e-17 2.0235249376855895e-15 2.738621 94 0.006049685 747 0.010364456463855422 2.103394 10 10 0.001120197 GO Biological Process paraxial mesoderm development 244 1.377324e-16 7.427953490163935e-15 2.543423 103 0.00662891 1027 0.04543587440798442 1.732207 14 17 0.001568276 GO Biological Process posttranscriptional gene silencing by RNA 246 1.657903e-16 8.868433161382113e-15 2.255921 130 0.008366585 578 0.0018282993937889275 1.567235 38 51 0.004256749 GO Biological Process posttranscriptional gene silencing 248 1.87422e-16 9.944702008064518e-15 2.24416 131 0.008430943 546 0.0012132419654578754 1.577546 39 52 0.004368769 GO Biological Process gene silencing by miRNA 252 2.509446e-16 1.3103888854761905e-14 2.369212 116 0.007465568 764 0.010535395094502615 1.529741 32 44 0.003584631 GO Biological Process negative regulation of cyclin-dependent protein kinase activity 257 4.559709e-16 2.3346774603501946e-14 2.707121 89 0.005727893 736 0.009529581524592393 1.698895 21 26 0.002352414 GO Biological Process mammary gland epithelial cell differentiation 354 3.238283e-13 1.2037448021751414e-11 2.248014 102 0.006564551 1027 0.04543587440798442 1.732207 14 17 0.001568276 GO Biological Process positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay 355 3.63484e-13 1.3473481566197183e-11 2.587167 77 0.004955593 616 0.0026997077030844157 1.971932 15 16 0.001680296 GO Biological Process positive regulation of mesonephros development 386 1.800324e-12 6.13742578134715e-11 2.057386 117 0.007529927 385 0.00006718513726753248 2.007785 21 22 0.002352414 GO Biological Process positive regulation of nuclear-transcribed mRNA poly(A) tail shortening 406 4.969423e-12 1.6106560900738916e-10 3.088017 52 0.003346634 1036 0.046696934304054055 1.912177 10 11 0.001120197 GO Biological Process positive regulation of mRNA catabolic process 422 7.79034e-12 2.429220001421801e-10 2.282281 87 0.005599176 647 0.003789794033848532 1.766851 21 25 0.002352414 GO Biological Process regulation of transforming growth factor beta2 production 435 1.38811e-11 4.1991125264367817e-10 2.927479 54 0.003475351 962 0.03564245098544698 2.103394 8 8 0.0008961577 GO Biological Process axonal transport 473 6.27058e-11 1.7444939158562368e-9 2.124235 93 0.005985326 902 0.026997949747228377 1.510129 28 39 0.003136552 GO Biological Process commissural neuron axon guidance 505 1.354551e-10 3.5296112097029706e-9 2.495368 64 0.004118934 962 0.03564245098544698 2.103394 8 8 0.0008961577 GO Biological Process regulation of Rac protein signal transduction 721 2.318037e-8 4.230658652288488e-7 2.273842 58 0.003732784 1050 0.04792205769619048 1.802909 12 14 0.001344237 GO Biological Process metanephric mesenchyme development 813 1.00084e-7 0.000001619932787207872 2.01001 70 0.004505084 729 0.008912031126611798 1.953152 13 14 0.001456256 GO Biological Process positive regulation of extracellular matrix assembly 865 2.057264e-7 0.0000031296574538728323 2.212231 53 0.003410992 858 0.018990231409090907 2.103394 9 9 0.001008177 GO Cellular Component PcG protein complex 69 6.839495e-13 1.712847443478261e-11 2.008806 129 0.008302227 99 0.0131544576 1.508957 33 46 0.003696651 GO Cellular Component axon cytoplasm 92 8.507517e-11 1.597933627826087e-9 2.111331 93 0.005985326 131 0.04460463975572519 1.472376 28 40 0.003136552 GO Cellular Component mitotic spindle midzone 110 3.9105e-9 6.14304e-8 2.486649 54 0.003475351 116 0.028208661517241378 1.928111 11 12 0.001232217 GO Cellular Component PRC1 complex 117 1.072715e-8 1.5843175384615386e-7 3.903088 26 0.001673317 116 0.028208661517241378 1.928111 11 12 0.001232217 GO Molecular Function DNA binding, bending 56 1.074903e-17 8.104000832142856e-16 2.707915 99 0.006371476 120 0.039258407733333334 1.771279 16 19 0.001792315 GO Molecular Function transmembrane receptor protein serine/threonine kinase activity 127 1.085639e-8 3.6091085496062996e-7 2.061397 76 0.004891234 107 0.02356970563364486 1.855936 15 17 0.001680296 Human Phenotype Hirsutism 5 1.244034e-27 1.6602877763999997e-24 2.061866 279 0.01795598 91 0.017213656134065936 1.440681 50 73 0.005600986 Human Phenotype Gastrointestinal hemorrhage 110 1.827541e-14 1.1086528266363635e-12 2.689573 80 0.005148668 116 0.030661393781896553 1.698895 21 26 0.002352414 Mouse Phenotype Single KO vertebral transformation 81 1.858932e-22 2.1015111511111113e-20 2.038188 230 0.01480242 168 0.0000010990558435714288 1.600409 70 92 0.00784138 Mouse Phenotype Single KO absent corpus callosum 106 1.748978e-20 1.5108859949056602e-18 2.089473 196 0.01261424 755 0.01777332463178808 1.577546 24 32 0.002688473 Mouse Phenotype Single KO abnormal facial nerve morphology 139 1.134131e-17 7.471393933093524e-16 2.264944 139 0.00894581 499 0.003235004778757515 1.727788 23 28 0.002576453 Mouse Phenotype Single KO cervical vertebral transformation 142 1.987489e-17 1.2816504769718311e-15 2.540875 109 0.00701506 434 0.001542594971705069 1.660574 30 38 0.003360591 Mouse Phenotype Single KO abnormal liver sinusoid morphology 144 2.41451e-17 1.5353936159722222e-15 2.036029 174 0.01119835 884 0.030315242925339367 1.370393 43 66 0.004816848 Mouse Phenotype Single KO thoracic vertebral transformation 195 1.512679e-14 7.103385437435898e-13 2.2546 113 0.007272493 456 0.0019701373857017542 1.577546 36 48 0.00403271 Mouse Phenotype Single KO abnormal metanephros morphology 260 9.560732e-13 3.367216266307692e-11 2.117152 112 0.007208135 639 0.008855293329733959 1.787885 17 20 0.001904335 Mouse Phenotype Single KO abnormal thymus development 297 7.505113e-12 2.3139501596296293e-10 2.659078 65 0.004183293 699 0.014642042999999999 1.84047 14 16 0.001568276 Mouse Phenotype Single KO abnormal fourth pharyngeal arch artery morphology 332 5.404085e-11 1.4905182634036144e-9 2.04989 102 0.006564551 699 0.014642042999999999 1.84047 14 16 0.001568276 Mouse Phenotype Single KO abnormal adipose tissue development 340 6.84119e-11 1.8424934361764707e-9 2.799512 54 0.003475351 922 0.03651300118980477 1.912177 10 11 0.001120197 Mouse Phenotype Single KO lumbar vertebral transformation 387 2.2658e-10 5.3612223772609826e-9 2.248128 77 0.004955593 434 0.001542594971705069 1.660574 30 38 0.003360591 Mouse Phenotype Single KO absent egg cylinders 726 3.247491e-7 0.000004096043400413223 2.143262 55 0.003539709 817 0.02326790337576499 1.822942 13 15 0.001456256 Mouse Phenotype Single KO sacral vertebral transformation 760 5.593033e-7 0.000006738868839605264 2.719131 33 0.002123825 939 0.03728975171778488 1.802909 12 14 0.001344237 Mouse Phenotype Single KO abnormal compact bone volume 878 0.000002378782 0.000024809233227790432 2.177985 45 0.002896126 922 0.03651300118980477 1.912177 10 11 0.001120197 Mouse Phenotype Single KO abnormal bone marrow development 1254 0.00005858394 0.0004277935714354067 2.286302 29 0.001866392 860 0.027744347097674416 2.103394 8 8 0.0008961577 Mouse Phenotype abnormal sternum manubrium morphology 148 3.376952e-21 2.1815566264864865e-19 4.030158 69 0.004440726 1201 0.020743405488759366 2.103394 8 8 0.0008961577 Mouse Phenotype thoracic vertebral transformation 149 3.594124e-21 2.306269769395973e-19 2.445204 145 0.00933196 542 0.00028489363289667895 1.586771 43 57 0.004816848 Mouse Phenotype lymphoid hyperplasia 162 6.401837e-20 3.77826935537037e-18 2.650545 117 0.007529927 1056 0.013267888428977272 1.577546 24 32 0.002688473 Mouse Phenotype abnormal rib development 172 4.303506e-19 2.3921988875581398e-17 2.582334 117 0.007529927 649 0.0007875005304776579 1.720959 27 33 0.003024532 Mouse Phenotype cervical vertebral fusion 185 1.896993e-18 9.803864904324324e-17 2.032679 187 0.01203501 813 0.003693593054243542 1.533725 35 48 0.00392069 Mouse Phenotype large lymphoid organs 214 2.465912e-17 1.1017095622429907e-15 2.408236 120 0.007723002 1445 0.04314214330795847 1.46069 25 36 0.002800493 Mouse Phenotype abnormal roof plate morphology 251 1.304697e-15 4.9698039908366534e-14 2.973292 74 0.004762518 1469 0.0454075125377808 1.779795 11 13 0.001232217 Mouse Phenotype abnormal fourth pharyngeal arch artery morphology 272 4.113546e-15 1.4459416656617647e-13 2.016177 153 0.009846827 499 0.00015855740140280561 1.869684 24 27 0.002688473 Mouse Phenotype cervical vertebral transformation 281 1.104425e-14 3.757796236654804e-13 2.171899 124 0.007980435 572 0.0003760959756293706 1.663149 34 43 0.00380867 Mouse Phenotype ectopic ureteric bud 285 1.424173e-14 4.777725632631579e-13 2.485915 93 0.005985326 1116 0.016223175051075272 1.928111 11 12 0.001232217 Mouse Phenotype abnormal thyroid cartilage morphology 287 1.649132e-14 5.493850540766551e-13 2.063361 138 0.008881452 1168 0.017954870393835618 1.617996 20 26 0.002240394 Mouse Phenotype abnormal peritoneum morphology 293 2.141315e-14 6.987410482935154e-13 3.528492 53 0.003410992 1019 0.011617797223748772 2.103394 9 9 0.001008177 Mouse Phenotype increased skin papilloma incidence 294 2.206228e-14 7.174743506122449e-13 2.189209 119 0.007658643 1308 0.028897201486238533 1.452344 29 42 0.003248572 Mouse Phenotype small basisphenoid bone 301 4.296116e-14 1.3646234244518273e-12 2.373524 98 0.006307118 1266 0.026780338343601894 1.732207 14 17 0.001568276 Mouse Phenotype abnormal aortic valve cusp morphology 302 4.298754e-14 1.3609399666887419e-12 2.086419 130 0.008366585 1220 0.022275021877868853 1.494517 27 38 0.003024532 Mouse Phenotype abnormal metanephros morphology 329 1.700607e-13 4.942098336474165e-12 2.057707 128 0.008237868 810 0.0036314389537037035 1.713877 22 27 0.002464434 Mouse Phenotype abnormal sternebra number 331 1.842333e-13 5.321615049244713e-12 4.181332 40 0.002574334 1469 0.0454075125377808 1.779795 11 13 0.001232217 Mouse Phenotype abnormal thymus development 348 3.779773e-13 1.0384600475e-11 2.066317 123 0.007916077 432 0.00005115739202083334 1.885802 26 29 0.002912513 Mouse Phenotype abnormal third pharyngeal arch artery morphology 399 2.49501e-12 5.978644263157894e-11 2.17805 101 0.006500193 1507 0.04624371471201062 1.602586 16 21 0.001792315 Mouse Phenotype sacral vertebral transformation 411 4.153298e-12 9.661723157664234e-11 3.499393 44 0.002831767 635 0.0006913827109133858 1.903071 19 21 0.002128375