# 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 adherens junction assembly 252 4.63049e-38 2.4179610281746032e-36 2.425512 276 0.008889748 954 0.01660409240880503 1.391796 30 34 0.002520161 GO Biological Process regulation of Rac protein signal transduction 357 2.050079e-29 7.556579708963585e-28 2.943059 150 0.004831385 1016 0.021879997732283465 1.577369 14 14 0.001176075 GO Biological Process gene silencing by miRNA 373 2.521764e-28 8.89648591849866e-27 2.299873 225 0.007247077 1083 0.027485894663896584 1.326424 37 44 0.003108199 GO Biological Process posttranscriptional gene silencing by RNA 403 4.080628e-27 1.3324313610918114e-25 2.153811 248 0.007987889 908 0.012872494658039649 1.329939 43 51 0.003612231 GO Biological Process posttranscriptional gene silencing 418 1.059532e-26 3.3354979875598085e-25 2.134801 249 0.008020099 866 0.01001606250138568 1.334697 44 52 0.003696237 GO Biological Process heterochromatin organization 556 4.037664e-21 9.55604686618705e-20 3.101334 97 0.003124295 1119 0.031348583391420916 1.577369 13 13 0.00109207 GO Biological Process positive regulation of adherens junction organization 634 7.951673e-19 1.6504111199842272e-17 2.011852 197 0.006345219 1256 0.04651777742993631 1.395365 23 26 0.001932124 GO Biological Process thyroid gland development 749 1.961236e-16 3.4456481340453933e-15 2.20733 136 0.004380455 740 0.00466243641972973 1.511645 23 24 0.001932124 GO Biological Process negative regulation of cardiac muscle hypertrophy 782 1.023902e-15 1.722957342455243e-14 2.02306 159 0.005121268 1160 0.03524614327672414 1.489737 17 18 0.001428091 GO Biological Process mitochondrion transport along microtubule 843 6.398793e-15 9.988341291459076e-14 2.327172 109 0.003510806 1160 0.03524614327672414 1.489737 17 18 0.001428091 GO Biological Process establishment of mitochondrion localization 985 3.014325e-13 4.026954586294416e-12 2.159899 112 0.003607434 980 0.018449428246938772 1.498501 19 20 0.001596102 GO Biological Process nucleus localization 1036 9.092708e-13 1.1549318974131273e-11 2.13734 110 0.003543015 1222 0.04300287974795417 1.433972 20 22 0.001680108 GO Biological Process branching involved in labyrinthine layer morphogenesis 1402 4.782451e-10 4.488749836590584e-9 2.031311 94 0.003027668 1236 0.044784026829288025 1.577369 12 12 0.001008065 GO Biological Process deoxyribose phosphate catabolic process 1708 2.349332e-8 1.810003500468384e-7 2.13112 67 0.002158018 980 0.018449428246938772 1.498501 19 20 0.001596102 GO Biological Process deoxyribonucleotide catabolic process 1783 4.847345e-8 3.577465667694896e-7 2.144238 63 0.002029182 1064 0.02558350765883459 1.49435 18 19 0.001512097 GO Cellular Component cytoplasmic stress granule 108 2.702859e-19 4.324574399999999e-18 2.021302 200 0.006441846 77 0.0001835149689350649 1.46732 40 43 0.003360215 GO Cellular Component integrator complex 201 1.483648e-9 1.2754944e-8 2.129364 79 0.002544529 140 0.013213361828571427 1.577369 15 15 0.001260081 GO Cellular Component PRC1 complex 377 0.00005705698 0.000261523770397878 2.253885 30 0.0009662769 166 0.04378792597590361 1.577369 12 12 0.001008065 GO Molecular Function mitogen-activated protein kinase binding 128 1.460502e-15 4.817374565625e-14 2.141845 137 0.004412665 98 0.0032070966840816325 1.518948 26 27 0.00218414 Human Phenotype Aplasia/hypoplasia of the femur 281 1.31659e-15 3.126549846975089e-14 2.048031 153 0.004928012 202 0.01198742344851485 1.433972 30 33 0.002520161 Human Phenotype Aplasia/Hypoplasia involving the femoral head and neck 461 1.472006e-11 2.1307366676789588e-10 2.119419 100 0.003220923 261 0.022559886647126437 1.456033 24 26 0.002016129 Human Phenotype Short femoral neck 530 1.49549e-10 1.8829065603773586e-9 2.079845 94 0.003027668 206 0.012884451913106795 1.508788 22 23 0.001848118 Human Phenotype Flat acetabular roof 590 5.279122e-10 5.970776458644067e-9 2.322124 69 0.002222437 242 0.018705508188016525 1.577369 16 16 0.001344086 Mouse Phenotype Single KO abnormal cell adhesion 127 3.568721e-45 2.573132141496063e-43 2.142958 429 0.01381776 283 0.0000037656754975265014 1.470429 55 59 0.004620296 Mouse Phenotype Single KO abnormal metanephros morphology 191 6.101957e-35 2.9254251439267015e-33 2.412402 255 0.008213354 867 0.014511764343713957 1.498501 19 20 0.001596102 Mouse Phenotype Single KO interrupted aortic arch 204 1.270263e-33 5.701861907352941e-32 2.003631 371 0.01194962 681 0.0040358690885462555 1.41133 34 38 0.002856183 Mouse Phenotype Single KO abnormal fourth pharyngeal arch morphology 294 6.026852e-26 1.877138903537415e-24 2.110659 248 0.007987889 816 0.010219336562132354 1.502256 20 21 0.001680108 Mouse Phenotype Single KO abnormal facial nerve morphology 336 1.512248e-23 4.121325873809523e-22 2.022413 248 0.007987889 534 0.0008368198186142322 1.521034 27 28 0.002268145 Mouse Phenotype Single KO delayed intramembranous bone ossification 376 2.863029e-22 6.97254163643617e-21 2.056423 224 0.007214868 1077 0.03395340779572888 1.433972 20 22 0.001680108 Mouse Phenotype Single KO short premaxilla 402 2.919055e-21 6.649200655472637e-20 2.256943 172 0.005539988 992 0.02460745286794355 1.577369 13 13 0.00109207 Mouse Phenotype Single KO abnormal sixth pharyngeal arch artery morphology 430 4.0431e-20 8.609922488372093e-19 2.054681 201 0.006474055 728 0.005406777064423078 1.577369 17 17 0.001428091 Mouse Phenotype Single KO abnormal thymus involution 503 4.497015e-18 8.186712993041749e-17 2.587175 110 0.003543015 992 0.02460745286794355 1.577369 13 13 0.00109207 Mouse Phenotype Single KO lymphoid hyperplasia 509 5.88698e-18 1.0590781111984284e-16 2.106666 167 0.005378942 884 0.016034973935520364 1.414193 26 29 0.00218414 Mouse Phenotype Single KO translucent skin 557 1.040024e-16 1.709784518491921e-15 2.079852 159 0.005121268 992 0.02460745286794355 1.577369 13 13 0.00109207 Mouse Phenotype Single KO absent teeth 572 1.933902e-16 3.095933673776224e-15 2.278519 127 0.004090572 992 0.02460745286794355 1.577369 13 13 0.00109207 Mouse Phenotype Single KO abnormal lacrimal gland physiology 614 1.258285e-15 1.8765660822475572e-14 2.174143 133 0.004283828 1177 0.04493423145454545 1.427143 19 21 0.001596102 Mouse Phenotype Single KO abnormal stapedial artery morphology 617 1.436732e-15 2.13227794554295e-14 2.464674 102 0.003285342 728 0.005406777064423078 1.577369 17 17 0.001428091 Mouse Phenotype Single KO absent stapedial artery 622 1.723493e-15 2.5373031191318327e-14 2.482952 100 0.003220923 783 0.007933324244572158 1.577369 16 16 0.001344086 Mouse Phenotype Single KO fused carpal bones 785 3.516819e-13 4.10235816343949e-12 2.146143 113 0.003639643 1215 0.05002371877530864 1.577369 11 11 0.0009240591 Mouse Phenotype Single KO thin ventricle myocardium compact layer 911 1.079494e-11 1.0850632884742041e-10 2.041217 111 0.003575225 1215 0.05002371877530864 1.577369 11 11 0.0009240591 Mouse Phenotype Single KO abnormal internal carotid artery morphology 941 2.17992e-11 2.1213100361317747e-10 2.248852 86 0.002769994 1097 0.03511278778760255 1.577369 12 12 0.001008065 Mouse Phenotype Single KO abnormal thyroid gland development 994 7.593305e-11 6.995160350603622e-10 2.063291 99 0.003188714 992 0.02460745286794355 1.577369 13 13 0.00109207 Mouse Phenotype Single KO abnormal cerebellar granule cell migration 1947 0.000009531378 0.000044827338647149456 2.00648 48 0.001546043 1215 0.05002371877530864 1.577369 11 11 0.0009240591 Mouse Phenotype abnormal cell adhesion 130 2.18753e-60 1.6088441792307694e-58 2.168463 563 0.0181338 297 3.689329145454545e-8 1.473595 71 76 0.005964382 Mouse Phenotype abnormal metanephros morphology 289 5.480191e-32 1.81301405366782e-30 2.220538 276 0.008889748 1081 0.0053121216716003694 1.460527 25 27 0.002100134 Mouse Phenotype abnormal fourth pharyngeal arch artery morphology 322 4.49834e-30 1.3356717e-28 2.051035 311 0.01001707 1081 0.0053121216716003694 1.460527 25 27 0.002100134 Mouse Phenotype abnormal third pharyngeal arch morphology 330 1.328265e-29 3.8483459590909097e-28 2.194468 261 0.008406609 1715 0.04856681379008746 1.352031 24 28 0.002016129 Mouse Phenotype increased skin papilloma incidence 365 2.079809e-27 5.447959958630137e-26 2.200461 239 0.007698006 641 0.0001797465016848674 1.4647 39 42 0.00327621 Mouse Phenotype abnormal thymus development 425 1.313339e-24 2.954549218588235e-23 2.068247 246 0.007923471 1606 0.0376767219377335 1.359801 25 29 0.002100134 Mouse Phenotype absent teeth 528 9.25872e-22 1.6765648090909094e-20 2.202845 186 0.005990917 962 0.002706975517671518 1.577369 18 18 0.001512097 Mouse Phenotype abnormal stapedial artery morphology 572 2.014473e-20 3.367198663111888e-19 2.480479 136 0.004380455 836 0.001250522760645933 1.577369 20 20 0.001680108 Mouse Phenotype absent stapedial artery 575 2.404911e-20 3.99884418626087e-19 2.49451 134 0.004316037 897 0.0018394713809364548 1.577369 19 19 0.001596102 Mouse Phenotype short premaxilla 643 5.599895e-19 8.326686795489891e-18 2.027066 195 0.0062808 1315 0.015040296403802283 1.49435 18 19 0.001512097 Mouse Phenotype increased embryonic neuroepithelium apoptosis 653 9.453997e-19 1.3842215209341498e-17 2.33155 140 0.004509292 1222 0.01011556147217676 1.451179 23 25 0.001932124 Mouse Phenotype persistent right dorsal aorta 665 1.804621e-18 2.59458366631579e-17 2.063893 181 0.005829871 1028 0.003997853095038911 1.577369 17 17 0.001428091 Mouse Phenotype abnormal sublingual gland morphology 678 2.692689e-18 3.797168072123894e-17 2.70628 103 0.003317551 1501 0.02679423432311792 1.577369 12 12 0.001008065 Mouse Phenotype abnormal forelimb bud morphology 679 2.764595e-18 3.892826626656848e-17 2.027823 187 0.006023126 1366 0.018658543473645678 1.577369 13 13 0.00109207 Mouse Phenotype abnormal thymus involution 698 5.944402e-18 8.142468126361032e-17 2.310297 136 0.004380455 1384 0.01900527151950867 1.440206 21 23 0.001764113 Mouse Phenotype abnormal vertebral artery topology 754 8.235896e-17 1.0443421970291776e-15 2.113793 154 0.004960222 1722 0.048785352292682924 1.380198 21 24 0.001764113 Mouse Phenotype abnormal thyroid gland development 890 1.239342e-14 1.3313875125842695e-13 2.282974 111 0.003575225 1185 0.00863739126329114 1.577369 15 15 0.001260081 Mouse Phenotype increased adrenal gland tumor incidence 894 1.573226e-14 1.682507134899329e-13 2.607926 85 0.002737785 1028 0.003997853095038911 1.577369 17 17 0.001428091 Mouse Phenotype increased incidence of corneal inflammation 936 5.977679e-14 6.106045824679486e-13 2.199624 114 0.003671852 1579 0.0349721034870171 1.427143 19 21 0.001596102 Mouse Phenotype fused carpal bones 937 6.16548e-14 6.291158407684098e-13 2.039897 136 0.004380455 1111 0.005837851076057605 1.577369 16 16 0.001344086