# 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 regulation of pri-miRNA transcription from RNA polymerase II promoter 141 1.794258e-21 1.6745135476595744e-19 2.382665 155 0.009087178 666 0.001719104998033033 1.611579 26 29 0.002488991 GO Biological Process mitral valve morphogenesis 155 2.296021e-19 1.9492477638064517e-17 3.318438 80 0.004690157 1109 0.03362784229846709 1.79753 10 10 0.0009573042 GO Biological Process positive regulation of pri-miRNA transcription from RNA polymerase II promoter 193 4.213385e-17 2.872742653626943e-15 2.766078 92 0.00539368 934 0.015577311427194861 1.617777 18 20 0.001723148 GO Biological Process adherens junction assembly 196 4.893047e-17 3.285081911887755e-15 2.223444 139 0.008149147 921 0.01422559052899023 1.480319 28 34 0.002680452 GO Biological Process response to laminar fluid shear stress 214 1.468141e-16 9.027695055607476e-15 2.708222 92 0.00539368 1139 0.03812206201843722 1.669135 13 14 0.001244496 GO Biological Process regulation of cholesterol metabolic process 294 9.114031e-14 4.079303875136054e-12 2.090926 126 0.007386997 899 0.01228275258253615 1.390542 41 53 0.003924947 GO Biological Process vascular smooth muscle cell differentiation 313 3.411187e-13 1.4341153269329076e-11 2.487682 83 0.004866037 1139 0.03812206201843722 1.669135 13 14 0.001244496 GO Biological Process regulation of cholesterol biosynthetic process 385 1.419127e-11 4.850465504675324e-10 2.06832 106 0.006214457 706 0.0026659407086402267 1.497942 35 42 0.003350565 GO Biological Process lymph vessel development 391 1.855259e-11 6.243824342966752e-10 2.074552 104 0.006097203 1069 0.02894065394106642 1.552412 19 22 0.001818878 GO Biological Process maintenance of protein location in nucleus 402 3.076008e-11 1.006895255522388e-9 2.969421 51 0.002989975 944 0.016085302323093218 1.685185 15 16 0.001435956 GO Biological Process negative regulation of cyclin-dependent protein kinase activity 408 3.743654e-11 1.20742017122549e-9 2.272082 82 0.00480741 1022 0.023236347610567514 1.520987 22 26 0.002106069 GO Biological Process negative regulation of cyclin-dependent protein serine/threonine kinase activity 450 2.027779e-10 5.929676413555556e-9 2.296756 74 0.004338395 1205 0.04634891372863071 1.497942 20 24 0.001914608 GO Biological Process megakaryocyte differentiation 602 6.905058e-9 1.5093630933887044e-7 2.002352 84 0.004924664 1175 0.04132034631744681 1.54074 18 21 0.001723148 GO Biological Process nucleus localization 626 1.24582e-8 2.6188091661341856e-7 2.228119 63 0.003693498 808 0.006682848636262376 1.634118 20 22 0.001914608 GO Biological Process telomere maintenance in response to DNA damage 1720 0.0003426441 0.002621426576686046 3.014206 14 0.0008207774 1109 0.03362784229846709 1.79753 10 10 0.0009573042 GO Cellular Component PcG protein complex 34 2.211682e-22 1.124054851764706e-20 2.354772 166 0.009732075 98 0.0018924809142857142 1.484916 38 46 0.003637756 GO Cellular Component intrinsic component of mitochondrial outer membrane 148 0.000002227307 0.00002600531416216216 2.183834 45 0.002638213 136 0.01892288329411765 1.56307 20 23 0.001914608 GO Cellular Component integral component of mitochondrial outer membrane 150 0.000002863911 0.00003299225472 2.183738 44 0.002579586 148 0.027450179027027028 1.552412 19 22 0.001818878 GO Cellular Component trans-Golgi network transport vesicle membrane 245 0.0002541348 0.0017924283036734692 2.034716 31 0.001817436 166 0.034348902939759035 1.669135 13 14 0.001244496 GO Molecular Function mitogen-activated protein kinase binding 90 1.530256e-9 7.178600924444444e-8 2.162709 76 0.004455649 149 0.03304599069798658 1.531229 23 27 0.0022018 Mouse Phenotype Single KO abnormal sternebra number 1 8.824862e-49 8.0809261334e-45 8.284502 87 0.005100545 1082 0.04692789854158965 1.659259 12 13 0.001148765 Mouse Phenotype Single KO vertebral transformation 4 1.153214e-45 2.6399951495e-42 2.510552 311 0.01823298 208 0.0000017324735831730771 1.484916 76 92 0.007275512 Mouse Phenotype Single KO thoracic vertebral transformation 6 4.31046e-37 6.578480370000001e-34 3.144341 173 0.01014246 440 0.0009825585868181818 1.497942 40 48 0.003829217 Mouse Phenotype Single KO enlarged liver sinusoidal spaces 26 5.801366e-23 2.0431964793076925e-20 2.534745 148 0.00867679 977 0.03231570907983623 1.408875 29 37 0.002776182 Mouse Phenotype Single KO abnormal cervical atlas morphology 29 2.746072e-22 8.670959070344828e-20 2.164322 198 0.01160814 542 0.00271753910904059 1.477969 37 45 0.003542026 Mouse Phenotype Single KO cervical vertebral transformation 34 1.21779e-21 3.2797950088235296e-19 2.675591 126 0.007386997 424 0.0008785243077358492 1.561013 33 38 0.003159104 Mouse Phenotype Single KO thin interventricular septum 40 1.276229e-20 2.9216072382500003e-18 3.155947 92 0.00539368 841 0.019628742678953624 1.608316 17 19 0.001627417 Mouse Phenotype Single KO abnormal embryonic erythropoiesis 43 6.537212e-20 1.392122099627907e-17 2.532376 127 0.007445623 864 0.02169175657986111 1.487611 24 29 0.00229753 Mouse Phenotype Single KO persistent right dorsal aorta 56 1.784096e-18 2.917315548571429e-16 2.647372 108 0.006331711 595 0.00416955761394958 1.79753 14 14 0.001340226 Mouse Phenotype Single KO small superior cervical ganglion 66 2.070161e-17 2.8721915571212122e-15 2.634967 102 0.00597995 671 0.007894731431892697 1.516666 27 32 0.002584721 Mouse Phenotype Single KO abnormal Mullerian duct morphology 75 7.609346e-17 9.290504176266667e-15 2.196592 141 0.008266401 538 0.0026607280442379182 1.54074 30 35 0.002871913 Mouse Phenotype Single KO absent ductus venosus valve 78 2.020697e-16 2.3722464652564103e-14 2.583796 99 0.005804069 434 0.0009687038386635945 1.715824 21 22 0.002010339 Mouse Phenotype Single KO absent segment of posterior cerebral artery 80 2.604742e-16 2.98145281175e-14 2.942308 79 0.00463153 896 0.024027487666294645 1.552412 19 22 0.001818878 Mouse Phenotype Single KO heterochrony 93 2.523756e-15 2.484949859354839e-13 2.81693 79 0.00463153 1030 0.04194152261067961 1.586056 15 17 0.001435956 Mouse Phenotype Single KO increased pulmonary respiratory rate 111 2.391165e-14 1.9726034148648648e-12 2.398111 98 0.005745442 1007 0.03859468171698113 1.497942 20 24 0.001914608 Mouse Phenotype Single KO abnormal cerebral artery morphology 124 1.079364e-13 7.970754958064516e-12 2.528296 84 0.004924664 732 0.011737790365846993 1.572839 21 24 0.002010339 Mouse Phenotype Single KO abnormal fourth pharyngeal arch artery morphology 127 1.477486e-13 1.0653023072440945e-11 2.141947 117 0.006859354 760 0.013903302024999998 1.685185 15 16 0.001435956 Mouse Phenotype Single KO reduced sympathetic cervical ganglion size 137 4.426576e-13 2.9586975497810214e-11 3.503467 48 0.002814094 1082 0.04692789854158965 1.659259 12 13 0.001148765 Mouse Phenotype Single KO retroesophageal right subclavian artery 178 1.441707e-11 7.41669157247191e-10 2.156454 96 0.005628188 579 0.0036815251951640765 1.702923 18 19 0.001723148 Mouse Phenotype Single KO bifid ureter 215 1.036925e-10 4.416335918604651e-9 2.381201 71 0.004162514 1055 0.04423343965592416 1.79753 9 9 0.0008615738 Mouse Phenotype abnormal sternebra number 11 8.824862e-49 7.670409598363637e-46 8.284502 87 0.005100545 1531 0.034628468194644026 1.659259 12 13 0.001148765 Mouse Phenotype abnormal rib development 17 1.188585e-38 6.684741873529411e-36 3.337545 166 0.009732075 1490 0.031620402287919465 1.416236 26 33 0.002488991 Mouse Phenotype thoracic vertebral transformation 19 7.557242e-38 3.80288372431579e-35 2.96481 193 0.011315 518 0.00008246194536486486 1.51371 48 57 0.00459506 Mouse Phenotype enlarged liver sinusoidal spaces 23 3.239682e-34 1.346721721826087e-31 2.775466 193 0.011315 1067 0.0069536301739456415 1.446793 33 41 0.003159104 Mouse Phenotype abnormal cervical atlas morphology 49 1.14732e-24 2.2386788816326534e-22 2.199364 213 0.01248754 766 0.0010860494673368146 1.458374 43 53 0.004116408 Mouse Phenotype fusion of atlas and occipital bones 53 3.658919e-24 6.600551803584905e-22 4.581856 69 0.00404526 1370 0.023028198891240876 1.669135 13 14 0.001244496 Mouse Phenotype persistent right dorsal aorta 90 3.440517e-19 3.654975893e-17 2.532127 122 0.007152489 693 0.0006423388842424243 1.79753 17 17 0.001627417 Mouse Phenotype cervical vertebral transformation 98 9.49012e-19 9.258677277551021e-17 2.297592 144 0.008442282 514 0.0000748958516848249 1.588515 38 43 0.003637756 Mouse Phenotype absent ductus venosus valve 137 2.020697e-16 1.410210512189781e-14 2.583796 99 0.005804069 691 0.0006352618965846598 1.715824 21 22 0.002010339 Mouse Phenotype absent segment of posterior cerebral artery 138 2.604742e-16 1.8046332073913042e-14 2.942308 79 0.00463153 1273 0.017657860154752555 1.552412 19 22 0.001818878 Mouse Phenotype abnormal embryonic erythropoiesis 144 4.925036e-16 3.2700186941666664e-14 2.238838 128 0.00750425 1367 0.022978943769568397 1.449621 25 31 0.002393261 Mouse Phenotype abnormal aortic valve cusp morphology 152 9.984448e-16 6.280349166315789e-14 2.105296 144 0.008442282 847 0.0021236312992916175 1.51371 32 38 0.003063374 Mouse Phenotype heterochrony 160 2.523756e-15 1.50810194475e-13 2.81693 79 0.00463153 1457 0.03095793397185999 1.586056 15 17 0.001435956 Mouse Phenotype abnormal sublingual gland morphology 162 2.895206e-15 1.7087076892592593e-13 3.156432 66 0.003869379 1090 0.007686779976055045 1.79753 12 12 0.001148765 Mouse Phenotype increased pulmonary respiratory rate 171 5.599807e-15 3.1309798085964915e-13 2.186177 125 0.00732837 828 0.0018051052528985506 1.54074 30 35 0.002871913 Mouse Phenotype increased lactate dehydrogenase level 172 6.214687e-15 3.454571070174418e-13 2.441199 99 0.005804069 1171 0.011027719452604612 1.497942 25 30 0.002393261 Mouse Phenotype double ureter 173 6.251742e-15 3.455081229017341e-13 2.392158 103 0.006038577 1457 0.03095793397185999 1.586056 15 17 0.001435956 Mouse Phenotype ectopic thymus 182 1.584331e-14 8.322960819230769e-13 2.659325 82 0.00480741 991 0.004701101249545913 1.79753 13 13 0.001244496 Mouse Phenotype abnormal cerebral artery morphology 204 1.079364e-13 5.0587251e-12 2.528296 84 0.004924664 1106 0.008111336283363472 1.572839 21 24 0.002010339 Mouse Phenotype abnormal third pharyngeal arch artery morphology 215 2.046876e-13 9.102409970232558e-12 2.180529 111 0.006507592 1411 0.025000876624379872 1.54074 18 21 0.001723148