# 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 mitochondrial membrane organization 115 1.158044e-21 1.3251044344347824e-19 2.047883 218 0.01878663 409 0.0005965589215647922 1.395801 82 124 0.009217626 GO Biological Process positive regulation of pri-miRNA transcription from RNA polymerase II promoter 176 1.102826e-15 8.245504167045454e-14 3.093638 70 0.006032403 907 0.04311335254685777 1.688579 16 20 0.001798561 GO Biological Process posttranscriptional gene silencing 181 2.142833e-15 1.5578751075690607e-13 2.40857 105 0.009048604 733 0.021098670251023192 1.46127 36 52 0.004046763 GO Biological Process posttranscriptional gene silencing by RNA 182 2.360666e-15 1.706813400769231e-13 2.41658 104 0.008962427 804 0.0285736228159204 1.448536 35 51 0.003934353 GO Biological Process gene silencing by miRNA 189 9.661237e-15 6.726572364179894e-13 2.516061 92 0.007928301 788 0.027310836530456854 1.487101 31 44 0.003484712 GO Biological Process axonal transport 210 1.180657e-13 7.398221649047619e-12 2.538546 83 0.007152706 442 0.0011845178050226245 1.677755 31 39 0.003484712 GO Biological Process activation of signaling protein activity involved in unfolded protein response 238 9.132904e-13 5.049574946890757e-11 4.353926 36 0.003102378 876 0.03806691400684931 2.110724 8 8 0.0008992806 GO Biological Process axo-dendritic transport 240 1.020714e-12 5.5964898025000006e-11 2.32278 91 0.007842123 829 0.03061821516525935 1.46833 32 46 0.003597122 GO Biological Process trabecula formation 241 1.051832e-12 5.743177297925311e-11 2.494285 79 0.006807997 590 0.006991818307118643 1.758937 20 24 0.002248201 GO Biological Process anterograde axonal transport 286 1.244452e-11 5.725784569230769e-10 2.807059 58 0.004998276 525 0.0037457983299047618 1.702197 25 31 0.002810252 GO Biological Process regulation of pri-miRNA transcription from RNA polymerase II promoter 298 2.239975e-11 9.891218464765102e-10 2.146593 95 0.008186832 489 0.0025194261765030678 1.746806 24 29 0.002697842 GO Biological Process heterochromatin organization 360 2.471243e-10 9.033079621388888e-9 3.33621 39 0.00336091 705 0.017401991693049644 1.948361 12 13 0.001348921 GO Biological Process corpus callosum development 374 4.856286e-10 1.708659558128342e-8 2.766936 50 0.004308859 832 0.03155268815865384 1.829294 13 15 0.001461331 GO Biological Process retrograde axonal transport 394 1.245006e-9 4.1581304451776654e-8 3.472802 34 0.002930024 738 0.021397265055555555 2.110724 9 9 0.001011691 GO Biological Process heart trabecula formation 396 1.359836e-9 4.518707556565657e-8 2.779861 47 0.004050327 570 0.005518665283333333 1.970009 14 15 0.001573741 GO Biological Process regulation of cholesterol biosynthetic process 415 2.375514e-9 7.532382825542168e-8 2.151137 75 0.006463289 759 0.023638609150197627 1.50766 30 42 0.003372302 GO Biological Process clathrin coat assembly 625 2.859048e-7 0.000006019554021119999 2.337377 46 0.00396415 652 0.011506001537576688 1.862403 15 17 0.001686151 GO Biological Process cytokinetic process 773 0.000002264587 0.00003855071194437258 2.428658 36 0.003102378 823 0.030577007083839612 1.758937 15 18 0.001686151 GO Biological Process positive regulation of metanephros development 810 0.000003448019 0.000056015409902469136 2.069151 49 0.004222682 635 0.009805458898110237 1.959958 13 14 0.001461331 GO Biological Process mitral valve development 1119 0.00005557176 0.0006535020463270777 2.081029 36 0.003102378 949 0.049364331492096944 1.91884 10 11 0.001124101 GO Cellular Component ruffle membrane 38 4.246348e-19 1.93097088e-17 2.035682 193 0.0166322 85 0.0030427884423529406 1.415144 59 88 0.006632194 GO Cellular Component axon cytoplasm 63 2.385078e-14 6.541928228571429e-13 2.583924 85 0.00732506 71 0.0005681432788732394 1.688579 32 40 0.003597122 GO Molecular Function phosphatidylethanolamine binding 357 0.001519685 0.01797229711484594 2.477777 15 0.001292658 107 0.047350676990654206 2.110724 9 9 0.001011691 Human Phenotype Enlarged thorax 18 1.594541e-10 5.911317829444444e-8 2.596185 59 0.005084454 176 0.021117152102840906 1.743641 19 23 0.002135791 Human Phenotype Abnormality of the parietal bone 87 2.819339e-7 0.000021624654191954024 2.152633 55 0.004739745 256 0.047633620449218754 1.93483 11 12 0.001236511 Human Phenotype Shield chest 91 3.084761e-7 0.000022620450717582418 3.367422 25 0.00215443 222 0.036071141968468466 2.110724 9 9 0.001011691 Human Phenotype Stomach cancer 137 0.000001202708 0.00005858153637956204 2.338172 41 0.003533264 256 0.047633620449218754 1.93483 11 12 0.001236511 Human Phenotype Microretrognathia 237 0.000009967234 0.0002806386180675105 2.265779 36 0.003102378 204 0.032116746657352944 1.726956 18 22 0.002023381 Human Phenotype Truncus arteriosus 651 0.001006675 0.010318805337941628 2.230355 20 0.001723544 256 0.047633620449218754 1.93483 11 12 0.001236511 Mouse Phenotype Single KO extramedullary hematopoiesis 41 8.250633e-22 1.8427084483170733e-19 2.081936 211 0.01818339 1032 0.04928172289825581 1.259028 68 114 0.007643885 Mouse Phenotype Single KO increased squamous cell carcinoma incidence 79 2.618063e-16 3.034633277341772e-14 3.187235 70 0.006032403 818 0.023292105658924204 1.623634 20 26 0.002248201 Mouse Phenotype Single KO malocclusion 135 5.304927e-13 3.5983123362222223e-11 2.002935 131 0.01128921 322 0.00042602942499999995 1.721906 31 38 0.003484712 Mouse Phenotype Single KO enlarged liver sinusoidal spaces 154 2.106656e-12 1.2526395449350648e-10 2.290915 91 0.007842123 955 0.03909274798010471 1.483211 26 37 0.002922662 Mouse Phenotype Single KO increased body temperature 182 2.512818e-11 1.2642788146153847e-9 2.376572 76 0.006549466 651 0.011958860547926267 1.599033 25 33 0.002810252 Mouse Phenotype Single KO absent segment of posterior cerebral artery 218 2.433432e-10 1.0221530653211008e-8 2.792069 51 0.004395036 460 0.003484861574130435 1.822898 19 22 0.002135791 Mouse Phenotype Single KO thin interventricular septum 236 4.924382e-10 1.9107019480508473e-8 2.672469 53 0.004567391 690 0.014123053436231884 1.777452 16 19 0.001798561 Mouse Phenotype Single KO progressive hair loss 263 1.994917e-9 6.945800368441064e-8 4.401651 25 0.00215443 1012 0.048418687116600787 2.110724 7 7 0.0007868705 Mouse Phenotype Single KO subcutaneous edema 266 2.523702e-9 8.687796696992482e-8 2.327668 63 0.005429162 917 0.03525156409705562 1.547864 22 30 0.002473022 Mouse Phenotype Single KO decreased hepatocyte proliferation 291 7.600873e-9 2.391793610343643e-7 2.180728 68 0.005860048 913 0.034413209548740414 1.60415 19 25 0.002135791 Mouse Phenotype Single KO abnormal cerebral artery morphology 372 8.214895e-8 0.0000020221449869623654 2.300631 52 0.004481213 528 0.005436739824999999 1.758937 20 24 0.002248201 Mouse Phenotype Single KO absent ductus venosus valve 379 1.059804e-7 0.000002560587131398417 2.186718 57 0.004912099 460 0.003484861574130435 1.822898 19 22 0.002135791 Mouse Phenotype Single KO abnormal pericyte morphology 428 3.284406e-7 0.000007026940593925234 2.15904 54 0.004653568 694 0.014123458603746395 1.846883 14 16 0.001573741 Mouse Phenotype Single KO lethality during fetal growth through weaning, complete penetrance 435 4.02313e-7 0.000008468919864367815 2.510375 39 0.00336091 919 0.03547270345810664 1.91884 10 11 0.001124101 Mouse Phenotype Single KO heterochrony 598 0.00000871452 0.00013344290909699 2.148957 41 0.003533264 603 0.008657351256218906 1.862403 15 17 0.001686151 Mouse Phenotype Single KO fusion of vertebral bodies 678 0.00002410994 0.0003256264315339233 2.810599 22 0.001895898 919 0.03547270345810664 1.91884 10 11 0.001124101 Mouse Phenotype Single KO absent upper incisors 680 0.00002423078 0.0003262959595 2.291065 32 0.00275767 1012 0.048418687116600787 2.110724 7 7 0.0007868705 Mouse Phenotype Single KO abnormal internal carotid artery morphology 828 0.00008526241 0.0009429322323309178 2.168883 31 0.002671493 795 0.02104837234591195 1.93483 11 12 0.001236511 Mouse Phenotype Single KO abnormal roof plate morphology 987 0.0002887269 0.0026786952617021275 2.105453 28 0.002412961 842 0.027559416163895487 2.110724 8 8 0.0008992806 Mouse Phenotype increased body temperature 33 1.156908e-29 3.351877996363637e-27 3.326136 126 0.01085832 751 0.004013978970838882 1.628273 27 35 0.003035072 Mouse Phenotype abnormal adaptive thermogenesis 89 1.28338e-19 1.3786962000000002e-17 2.121298 180 0.01551189 978 0.01137145062576687 1.387873 48 73 0.005395683 Mouse Phenotype enlarged liver sinusoidal spaces 106 2.241873e-17 2.0221271465094338e-15 2.452063 116 0.009996553 1099 0.018178166615104643 1.492951 29 41 0.003259892 Mouse Phenotype abnormal lactate dehydrogenase level 206 1.378377e-12 6.397408979126213e-11 2.110954 111 0.009565667 1291 0.031311763993803254 1.407149 34 51 0.003821942 Mouse Phenotype decreased cellular sensitivity to ultraviolet irradiation 208 1.628308e-12 7.484736917307692e-11 3.89101 40 0.003447087 1080 0.017661043788888886 1.829294 13 15 0.001461331 Mouse Phenotype absent epidermis stratum corneum 231 6.675182e-12 2.7628318225974023e-10 3.958431 37 0.003188556 1244 0.02736147612057878 1.91884 10 11 0.001124101 Mouse Phenotype increased squamous cell carcinoma incidence 247 2.45048e-11 9.485441004048584e-10 2.02374 109 0.009393313 797 0.005218508963864491 1.501861 37 52 0.004159173 Mouse Phenotype impaired muscle regeneration 258 4.824597e-11 1.7879058882558142e-9 2.654957 60 0.005170631 930 0.010093945560967743 1.726956 18 22 0.002023381 Mouse Phenotype impaired skeletal muscle regeneration 277 1.02287e-10 3.530563202166065e-9 2.62747 59 0.005084454 1041 0.015761643731988472 1.708681 17 21 0.001910971 Mouse Phenotype increased adrenal gland tumor incidence 295 2.309376e-10 7.4847267579661e-9 3.283585 40 0.003447087 1223 0.026620396010629595 1.738243 14 17 0.001573741 Mouse Phenotype absent segment of posterior cerebral artery 296 2.433432e-10 7.860149781081081e-9 2.792069 51 0.004395036 672 0.0024907159066964286 1.822898 19 22 0.002135791 Mouse Phenotype increased incidence of corneal inflammation 316 6.132361e-10 1.855427326613924e-8 2.684472 52 0.004481213 1041 0.015761643731988472 1.708681 17 21 0.001910971 Mouse Phenotype subcutaneous edema 368 2.523702e-9 6.556824679891305e-8 2.327668 63 0.005429162 1241 0.027197316132957294 1.547864 22 30 0.002473022 Mouse Phenotype abnormal food preference 391 5.710032e-9 1.396256162455243e-7 2.589527 49 0.004222682 1403 0.0408979032637206 1.714963 13 16 0.001461331 Mouse Phenotype abnormal thymus corticomedullary boundary morphology 395 6.862476e-9 1.6610666591392406e-7 2.18664 68 0.005860048 520 0.0005435871615576924 1.770285 26 31 0.002922662 Mouse Phenotype small middle ear ossicles 446 2.311442e-8 4.955089004932735e-7 2.237549 60 0.005170631 1257 0.028045698880668258 1.809192 12 14 0.001348921 Mouse Phenotype progressive hair loss 483 6.788546e-8 0.0000013437947889440994 2.080204 66 0.005687694 1462 0.045707648815321474 1.608171 16 21 0.001798561 Mouse Phenotype abnormal cerebral artery morphology 493 8.214895e-8 0.0000015931564116632859 2.300631 52 0.004481213 748 0.0040070151 1.758937 20 24 0.002248201 Mouse Phenotype absent ductus venosus valve 501 1.059804e-7 0.0000020225121844311375 2.186718 57 0.004912099 672 0.0024907159066964286 1.822898 19 22 0.002135791 Mouse Phenotype absent teeth 505 1.194231e-7 0.0000022609985328712867 2.059664 65 0.005601517 524 0.0005499689732633588 1.993461 17 18 0.001910971