# 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 mRNA transcription 186 1.242712e-31 8.791853337634408e-30 3.936898 109 0.004205896 1335 0.047793852706367046 1.408435 22 25 0.001875213 GO Biological Process regulation of viral transcription 195 9.99216e-31 6.742914535384615e-29 2.304797 244 0.009415033 924 0.010109378963852814 1.305018 53 65 0.004517559 GO Biological Process cellular response to epidermal growth factor stimulus 208 1.102986e-29 6.977977295192308e-28 2.23157 252 0.009723723 756 0.0034849244272486773 1.432021 34 38 0.002898057 GO Biological Process response to epidermal growth factor 228 3.946816e-28 2.2779013922807017e-26 2.14173 261 0.010071 764 0.0037587081684554973 1.409959 37 42 0.003153767 GO Biological Process nuclear-transcribed mRNA catabolic process, nonsense-mediated decay 248 3.350617e-26 1.777853592862903e-24 2.007717 283 0.0109199 625 0.0008979316304479999 1.27497 94 118 0.008012274 GO Biological Process negative regulation of cardiac muscle hypertrophy 279 3.22146e-24 1.5193975677419354e-22 2.484568 163 0.006289551 1183 0.027562754637362633 1.511578 17 18 0.001449028 GO Biological Process negative regulation of muscle hypertrophy 295 3.577898e-23 1.595985077355932e-21 2.380104 169 0.006521068 990 0.01415098922121212 1.52047 19 20 0.001619502 GO Biological Process intrinsic apoptotic signaling pathway in response to DNA damage 302 6.561883e-23 2.8591992846688744e-21 2.048357 233 0.008990585 1073 0.019693320357875115 1.275756 55 69 0.004688033 GO Biological Process posttranscriptional gene silencing by RNA 342 2.876694e-21 1.106854279122807e-19 2.101643 202 0.007794413 620 0.0008489980925322581 1.412201 45 51 0.003835663 GO Biological Process regulation of pri-miRNA transcription from RNA polymerase II promoter 343 2.924343e-21 1.1219075666763847e-19 2.08417 206 0.007948758 751 0.0034153036810918775 1.490115 27 29 0.002301398 GO Biological Process posttranscriptional gene silencing 361 1.1359e-20 4.1405285595567865e-19 2.074728 202 0.007794413 711 0.0021594696324894517 1.385043 45 52 0.003835663 GO Biological Process gene silencing by miRNA 368 1.840755e-20 6.5821997404891305e-19 2.179682 178 0.006868344 702 0.0020102565666666665 1.41862 39 44 0.003324241 GO Biological Process thyroid gland development 372 2.988934e-20 1.057295228655914e-18 2.527687 130 0.005016206 1050 0.01794935223047619 1.46712 22 24 0.001875213 GO Biological Process positive regulation of mRNA catabolic process 382 1.127008e-19 3.882277034554974e-18 2.327763 148 0.005710758 1335 0.047793852706367046 1.408435 22 25 0.001875213 GO Biological Process histone ubiquitination 397 3.99523e-19 1.3242627599496222e-17 2.136874 173 0.006675413 1153 0.02581576673547268 1.354264 33 39 0.00281282 GO Biological Process positive regulation of pri-miRNA transcription from RNA polymerase II promoter 462 2.938889e-17 8.370744664718614e-16 2.3944 121 0.00466893 990 0.01415098922121212 1.52047 19 20 0.001619502 GO Biological Process paraxial mesoderm development 659 7.384747e-14 1.4745961422306524e-12 2.028286 137 0.00528631 1273 0.03892845679968578 1.506348 16 17 0.001363791 GO Biological Process production of miRNAs involved in gene silencing by miRNA 700 2.25542e-13 4.2398673971428575e-12 2.152997 114 0.004398827 855 0.0067132893229239765 1.481939 25 27 0.002130924 GO Biological Process coenzyme A metabolic process 835 1.059348e-11 1.6694563271856287e-10 2.512951 71 0.00273962 955 0.011856265889528797 1.600494 15 15 0.001278554 GO Biological Process negative regulation of cyclin-dependent protein serine/threonine kinase activity 878 2.333094e-11 3.49671798929385e-10 2.083618 102 0.003935793 1050 0.01794935223047619 1.46712 22 24 0.001875213 GO Cellular Component PcG protein complex 61 8.436759e-24 2.389954024918033e-22 2.110007 226 0.008720482 139 0.010264221789928057 1.356941 39 46 0.003324241 GO Molecular Function mitogen-activated protein kinase binding 107 7.133408e-15 2.814696128598131e-13 2.228775 119 0.004591758 125 0.0147328513904 1.481939 25 27 0.002130924 Human Phenotype Hamartoma 95 2.403448e-16 1.6882324741052632e-14 2.069189 157 0.006058034 163 0.017857148599386502 1.481939 25 27 0.002130924 Human Phenotype Missing ribs 97 5.257406e-16 3.6167701276288664e-14 2.028906 161 0.006212378 99 0.003438977058787879 1.600494 21 21 0.001789976 Human Phenotype Neonatal death 167 1.063225e-12 4.2484433682634734e-11 2.184193 104 0.004012965 235 0.03912283354468085 1.600494 14 14 0.001193317 Mouse Phenotype Single KO abnormal liver sinusoid morphology 59 1.667049e-39 2.587316558135593e-37 2.280054 325 0.01254052 788 0.016457081253807106 1.285245 53 66 0.004517559 Mouse Phenotype Single KO abnormal metanephros morphology 91 2.733405e-32 2.750526328021978e-30 2.493354 220 0.008488964 488 0.0015332362584631147 1.600494 20 20 0.001704739 Mouse Phenotype Single KO abnormal fourth pharyngeal arch morphology 151 1.069221e-25 6.4840110576158935e-24 2.222667 218 0.008411792 690 0.00923005693478261 1.52428 20 21 0.001704739 Mouse Phenotype Single KO abnormal fourth pharyngeal arch artery morphology 162 1.012862e-24 5.72517119382716e-23 2.313443 192 0.007408551 668 0.0073661827821856285 1.600494 16 16 0.001363791 Mouse Phenotype Single KO abnormal neural fold formation 202 1.186013e-21 5.3763965549504956e-20 2.084689 210 0.008103102 605 0.004418458343305785 1.486173 26 28 0.002216161 Mouse Phenotype Single KO thoracic vertebral transformation 204 1.597231e-21 7.169531503431372e-20 2.201081 184 0.007099861 792 0.016491282963383837 1.333745 40 48 0.003409478 Mouse Phenotype Single KO persistent right dorsal aorta 216 5.197168e-21 2.203262378518519e-19 2.403877 149 0.005749344 779 0.0161954416521181 1.600494 14 14 0.001193317 Mouse Phenotype Single KO abnormal facial nerve morphology 261 2.486894e-19 8.725091324904216e-18 2.002736 205 0.007910171 442 0.0006976863320361991 1.543334 27 28 0.002301398 Mouse Phenotype Single KO abnormal thyroid cartilage morphology 268 4.638083e-19 1.5847360459328362e-17 2.133453 173 0.006675413 581 0.003302750227366609 1.600494 18 18 0.001534265 Mouse Phenotype Single KO abnormal third pharyngeal arch artery morphology 370 1.473622e-15 3.647015311891892e-14 2.403399 107 0.004128724 937 0.034518078655282815 1.600494 12 12 0.001022844 Mouse Phenotype Single KO cervical vertebral transformation 398 7.417315e-15 1.7065415440954774e-13 2.040501 146 0.005633585 722 0.011067260540581717 1.389903 33 38 0.00281282 Mouse Phenotype Single KO abnormal rib development 440 3.968245e-14 8.258458969318182e-13 2.12556 125 0.004823275 950 0.03629963961894737 1.506348 16 17 0.001363791 Mouse Phenotype Single KO thin ventricle myocardium compact layer 470 1.509119e-13 2.940213336808511e-12 2.269107 103 0.003974379 1029 0.050324318006802725 1.600494 11 11 0.0009376065 Mouse Phenotype Single KO decreased hepatocyte number 711 3.610587e-10 4.650090739662447e-9 2.034067 95 0.003665689 716 0.011004456722765364 1.600494 15 15 0.001278554 Mouse Phenotype Single KO abnormal serous gland morphology 975 3.048994e-8 2.863552621333333e-7 2.053259 72 0.002778207 1029 0.050324318006802725 1.600494 11 11 0.0009376065 Mouse Phenotype Single KO abnormal cervical rib 1108 2.200684e-7 0.0000018187421830324908 2.106754 59 0.002276586 1029 0.050324318006802725 1.600494 11 11 0.0009376065 Mouse Phenotype Single KO small ectoplacental cone 1308 0.000002137254 0.00001496241198623853 2.010891 55 0.002122241 779 0.0161954416521181 1.600494 14 14 0.001193317 Mouse Phenotype enlarged liver sinusoidal spaces 67 4.108187e-49 5.862444165223881e-47 2.735339 289 0.01115141 1449 0.025376668954451346 1.327239 34 41 0.002898057 Mouse Phenotype abnormal liver sinusoid morphology 77 1.731422e-47 2.14988646e-45 2.209511 421 0.01624479 926 0.003912623456371491 1.292707 63 78 0.005369928 Mouse Phenotype abnormal metanephros morphology 165 5.877851e-32 3.405947479454546e-30 2.351747 244 0.009415033 511 0.00005653786023287671 1.600494 27 27 0.002301398 Mouse Phenotype cervical vertebral fusion 168 1.698187e-31 9.664503516071429e-30 2.072438 318 0.01227041 771 0.001414398040466926 1.400433 42 48 0.003579952 Mouse Phenotype increased skin tumor incidence 170 2.800785e-31 1.5751944344117648e-29 2.020738 336 0.01296496 1051 0.007186919097431018 1.258816 70 89 0.005966587 Mouse Phenotype abnormal third pharyngeal arch artery morphology 171 4.991792e-31 2.791024755087719e-29 2.572922 199 0.007678654 1481 0.02951144999797434 1.448066 19 21 0.001619502 Mouse Phenotype small basisphenoid bone 179 2.865744e-30 1.5306915298324023e-28 2.657331 183 0.007061275 1435 0.0250913553825784 1.506348 16 17 0.001363791 Mouse Phenotype abnormal fourth pharyngeal arch artery morphology 206 3.840832e-27 1.7826308132038834e-25 2.09368 265 0.01022534 948 0.004399198646518987 1.481939 25 27 0.002130924 Mouse Phenotype abnormal thyroid cartilage morphology 214 2.940453e-26 1.3137229501401869e-24 2.151466 240 0.009260688 544 0.0000850701574742647 1.600494 26 26 0.002216161 Mouse Phenotype abnormal fourth pharyngeal arch morphology 220 5.507637e-26 2.393568970772727e-24 2.000777 283 0.0109199 971 0.005278367166426364 1.445608 28 31 0.002386635 Mouse Phenotype persistent right dorsal aorta 225 1.107101e-25 4.704441182666666e-24 2.445194 179 0.00690693 916 0.0035026514744541486 1.600494 17 17 0.001449028 Mouse Phenotype thoracic vertebral transformation 229 1.319111e-25 5.507432432751092e-24 2.214208 219 0.008450378 1078 0.007804049176530612 1.319706 47 57 0.004006137 Mouse Phenotype abnormal neural fold formation 250 2.567827e-24 9.8203975788e-23 2.122865 228 0.008797654 825 0.0019792347785454545 1.459274 31 34 0.002642346 Mouse Phenotype abnormal third pharyngeal arch morphology 251 4.955513e-24 1.8876358483266933e-22 2.165603 215 0.008296033 1602 0.03998742626779026 1.371852 24 28 0.002045687 Mouse Phenotype increased skin papilloma incidence 256 1.057316e-23 3.9488274515625e-22 2.216989 201 0.007755827 1072 0.007676371712126866 1.371852 36 42 0.003068531 Mouse Phenotype abnormal rib development 262 1.802347e-23 6.577190712595421e-22 2.342216 177 0.006829758 1128 0.010264445489361701 1.406495 29 33 0.002471872 Mouse Phenotype abnormal aortic valve cusp morphology 288 2.129492e-22 7.069469795833333e-21 2.08807 217 0.008373206 844 0.0022680527168246443 1.432021 34 38 0.002898057 Mouse Phenotype increased body temperature 322 2.434026e-21 7.227243039130435e-20 2.186659 185 0.007138447 1291 0.01763954139969016 1.371852 30 35 0.002557109 Mouse Phenotype ectopic ureteric bud 330 3.849048e-21 1.1151741796363635e-19 2.40393 150 0.00578793 1409 0.023967642370475512 1.600494 12 12 0.001022844 Mouse Phenotype abnormal sublingual gland morphology 337 1.118036e-20 3.1719709780415433e-19 3.053226 97 0.003742862 1409 0.023967642370475512 1.600494 12 12 0.001022844