# 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 mitral valve morphogenesis 127 8.365626e-13 8.667974215275591e-11 3.119632 55 0.004409171 846 0.00819468481182033 2.126741 10 10 0.001132631 GO Biological Process mitral valve development 142 6.152284e-12 5.701260926478873e-10 2.957605 55 0.004409171 1128 0.03872476716489362 1.933401 10 11 0.001132631 GO Biological Process protein kinase B signaling 185 3.295616e-10 2.3441627537297297e-8 2.002764 99 0.007936508 1181 0.046912369828111776 1.433239 31 46 0.003511156 GO Biological Process base-excision repair 261 2.830351e-8 0.000001426995739808429 2.001301 77 0.00617284 1124 0.03777738168683274 1.468464 29 42 0.00328463 GO Biological Process receptor catabolic process 318 1.928346e-7 0.000007979592771698113 2.114165 59 0.004729838 826 0.007041075024939467 1.717753 21 26 0.002378525 GO Biological Process corpus callosum development 352 4.841044e-7 0.000018097527839772728 2.31656 45 0.003607504 751 0.0037901371828229025 1.984959 14 15 0.001585684 GO Biological Process response to water 353 5.184599e-7 0.00001932695134305949 2.892464 30 0.002405002 1141 0.03928629252936021 1.822921 12 14 0.001359157 GO Biological Process definitive hemopoiesis 381 8.234912e-7 0.000028441786616272964 2.092912 54 0.004329004 1112 0.03689033347661871 1.751434 14 17 0.001585684 GO Biological Process regulation of transcription from RNA polymerase II promoter in response to oxidative stress 684 0.00003867911 0.000744120480248538 2.303537 30 0.002405002 1128 0.03872476716489362 1.933401 10 11 0.001132631 GO Biological Process apoptotic DNA fragmentation 1267 0.0009928296 0.01031147964198895 2.060729 24 0.001924002 1008 0.0238822664890873 1.843176 13 15 0.00147242 GO Biological Process histone H4-K20 methylation 1765 0.005141643 0.03833364319376771 2.107355 16 0.001282668 938 0.015727123346481877 2.126741 9 9 0.001019368 GO Cellular Component chromatin silencing complex 23 1.114645e-23 8.3743763478260865e-22 8.78005 39 0.003126503 143 0.0288243933986014 2.126741 8 8 0.0009061049 GO Cellular Component PcG protein complex 31 1.426344e-15 7.950717522580645e-14 2.288862 118 0.009459676 131 0.021786980152671758 1.479472 32 46 0.00362442 GO Cellular Component pseudopodium 49 1.009845e-9 3.561249306122449e-8 3.289796 37 0.00296617 147 0.03664551967346939 1.751434 14 17 0.001585684 GO Cellular Component cytoplasmic stress granule 56 5.968896e-9 1.8418307657142858e-7 2.037512 81 0.006493506 139 0.02655880057553957 1.483773 30 43 0.003397893 GO Molecular Function cyclin-dependent protein serine/threonine kinase inhibitor activity 94 0.000006049192 0.0002716988151489362 2.992064 23 0.001843835 162 0.044076142358024685 1.949513 11 12 0.001245894 Human Phenotype Abnormality of the shoulder 1 2.408295e-17 1.6070552535e-13 2.439167 117 0.009379509 107 0.008005623045794392 1.715114 25 31 0.002831578 Human Phenotype Down-sloping shoulders 5 1.204891e-12 1.6080475285999997e-9 2.341014 89 0.00713484 79 0.004540668190506329 2.001639 16 17 0.00181221 Mouse Phenotype Single KO abnormal sternebra number 1 1.405049e-35 1.2866033692999998e-31 8.203225 63 0.005050505 687 0.0114149269286754 1.963146 12 13 0.001359157 Mouse Phenotype Single KO thoracic vertebral transformation 2 2.3403e-27 1.071506355e-23 3.13149 126 0.01010101 331 0.00013885340057703927 1.68367 38 48 0.004303998 Mouse Phenotype Single KO vertebral transformation 4 7.497937e-24 1.716465227725e-20 2.218716 201 0.01611352 203 0.0000018219385184729064 1.595056 69 92 0.007815155 Mouse Phenotype Single KO increased sternebra number 9 1.56083e-20 1.5880578122222223e-17 6.877768 40 0.00320667 1025 0.04533974645853658 2.126741 7 7 0.0007928418 Mouse Phenotype Single KO lumbar vertebral transformation 43 4.359823e-13 9.284395165348837e-11 2.654866 73 0.005852173 861 0.024769121328687572 1.511106 27 38 0.003058104 Mouse Phenotype Single KO abnormal fourth pharyngeal arch artery morphology 44 5.18524e-13 1.0791191518181818e-10 2.328106 93 0.007455507 711 0.012547874449226441 1.860899 14 16 0.001585684 Mouse Phenotype Single KO abnormal fourth pharyngeal arch morphology 80 6.458548e-11 7.392615504499999e-9 2.075899 98 0.007856341 587 0.004460435538671209 1.822921 18 21 0.002038736 Mouse Phenotype Single KO cervical vertebral transformation 95 2.836156e-10 2.733755841263158e-8 2.23582 77 0.00617284 371 0.0003055900696495957 1.734973 31 38 0.003511156 Mouse Phenotype Single KO absent upper incisors 108 9.568104e-10 8.112511882222223e-8 2.930502 44 0.003527337 1025 0.04533974645853658 2.126741 7 7 0.0007928418 Mouse Phenotype Single KO abnormal vas deferens morphology 111 1.249608e-9 1.0308703113513513e-7 2.285971 68 0.005451339 968 0.03610086707851239 1.643391 17 22 0.001925473 Mouse Phenotype Single KO abnormal stapedial artery morphology 120 2.336086e-9 1.7826282918333332e-7 2.766502 46 0.00368767 912 0.03130061403289474 1.751434 14 17 0.001585684 Mouse Phenotype Single KO absent stapedial artery 125 2.964357e-9 2.1715693639200002e-7 2.78096 45 0.003607504 1050 0.04827043654476191 1.727977 13 16 0.00147242 Mouse Phenotype Single KO abnormal internal carotid artery morphology 158 1.550615e-8 8.986697186708861e-7 2.733541 42 0.003367003 797 0.01943100463864492 1.949513 11 12 0.001245894 Mouse Phenotype Single KO athymia 172 2.741432e-8 0.0000014594937688372093 2.676557 42 0.003367003 797 0.01943100463864492 1.949513 11 12 0.001245894 Mouse Phenotype Single KO lymphoid hyperplasia 194 7.798097e-8 0.0000036807821767525775 2.072226 66 0.005291005 605 0.0057919750451239675 1.686726 23 29 0.002605052 Mouse Phenotype Single KO persistent right dorsal aorta 197 7.972872e-8 0.000003705968979898477 2.111683 63 0.005050505 939 0.03321937257507988 1.822921 12 14 0.001359157 Mouse Phenotype Single KO abnormal parathyroid gland morphology 222 1.909927e-7 0.000007878018711261261 2.323223 48 0.003848004 1003 0.04249881471984048 1.679006 15 19 0.001698947 Mouse Phenotype Single KO abnormal third pharyngeal arch artery morphology 291 0.000001196799 0.00003766009774226805 2.193321 47 0.003767837 797 0.01943100463864492 1.949513 11 12 0.001245894 Mouse Phenotype Single KO thick aortic valve cusps 316 0.000002197476 0.0000636781257341772 2.20669 44 0.003527337 641 0.007526185442121684 2.126741 10 10 0.001132631 Mouse Phenotype Single KO increased mammary gland apoptosis 445 0.0000191238 0.0003935205316853933 2.707965 24 0.001924002 862 0.025339522348027842 2.126741 8 8 0.0009061049 Mouse Phenotype abnormal sternebra number 1 1.405049e-35 1.3433673489e-31 8.203225 63 0.005050505 1011 0.008098951928783384 1.963146 12 13 0.001359157 Mouse Phenotype thoracic vertebral transformation 10 1.387776e-28 1.3268526336e-25 2.982805 142 0.01138368 407 0.000018117949353316953 1.679006 45 57 0.00509684 Mouse Phenotype abnormal rib development 11 1.508657e-28 1.3112972342727273e-25 3.326606 121 0.009700176 796 0.0022968164487437185 1.675614 26 33 0.002944841 Mouse Phenotype sacral vertebral transformation 12 2.51167e-28 2.0011730725e-25 6.14216 62 0.004970338 1459 0.04179643902604523 1.620374 16 21 0.00181221 Mouse Phenotype increased sternebra number 29 1.56083e-20 5.145895044827587e-18 6.877768 40 0.00320667 1381 0.035136571151339606 2.126741 7 7 0.0007928418 Mouse Phenotype abnormal third pharyngeal arch artery morphology 61 1.644598e-13 2.5777051603278687e-11 2.417566 90 0.007215007 861 0.0031751359205574913 1.822921 18 21 0.002038736 Mouse Phenotype abnormal fourth pharyngeal arch artery morphology 74 7.827084e-13 1.0112804070810812e-10 2.035393 124 0.009940677 518 0.00012040595514671814 1.890437 24 27 0.002718315 Mouse Phenotype abnormal metanephros morphology 80 1.465208e-12 1.7511067110000002e-10 2.142628 107 0.008577842 400 0.000015919227537 1.969205 25 27 0.002831578 Mouse Phenotype abnormal third pharyngeal arch morphology 104 2.717373e-11 2.4981541589423078e-9 2.092679 100 0.008016675 973 0.0064184388336073995 1.671011 22 28 0.002491788 Mouse Phenotype abnormal stapedial artery morphology 137 3.626294e-10 2.5307297032116788e-8 2.58753 57 0.004569505 944 0.005326085703495763 1.80773 17 20 0.001925473 Mouse Phenotype absent stapedial artery 138 4.66025e-10 3.2287427717391296e-8 2.594671 56 0.004489338 1031 0.008901960548205625 1.79094 16 19 0.00181221 Mouse Phenotype exophthalmos 154 7.447123e-10 4.6235027924025974e-8 2.284359 70 0.005611672 1249 0.020639159995196155 1.701393 16 20 0.00181221 Mouse Phenotype absent upper incisors 161 9.399064e-10 5.581642913291926e-8 2.81369 47 0.003767837 1216 0.018755222427631578 2.126741 8 8 0.0009061049 Mouse Phenotype abnormal sublingual gland morphology 183 4.774377e-9 2.494416311311475e-7 2.812017 43 0.00344717 1138 0.014208931442003515 1.949513 11 12 0.001245894 Mouse Phenotype decreased DN4 thymocyte number 189 6.008033e-9 3.039301773174603e-7 2.194576 68 0.005451339 1031 0.008901960548205625 1.79094 16 19 0.00181221 Mouse Phenotype abnormal vas deferens morphology 191 6.169256e-9 3.088180974659686e-7 2.006695 84 0.006734007 1183 0.0158084386534235 1.577905 23 31 0.002605052 Mouse Phenotype abnormal sternum manubrium morphology 192 6.421747e-9 3.19782932640625e-7 2.910197 40 0.00320667 1216 0.018755222427631578 2.126741 8 8 0.0009061049 Mouse Phenotype ectopic kidney 196 7.307755e-9 3.5647676303571423e-7 2.244261 64 0.005130672 653 0.0008003224659418071 2.126741 13 13 0.00147242 Mouse Phenotype persistent right dorsal aorta 200 7.934529e-9 3.79310158845e-7 2.100169 74 0.005932339 937 0.005255432726254002 1.876537 15 17 0.001698947 Mouse Phenotype abnormal internal carotid artery morphology 206 1.024797e-8 4.7563515131067964e-7 2.736496 43 0.00344717 1011 0.008098951928783384 1.963146 12 13 0.001359157