# 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 gene expression, epigenetic 49 1.360356e-29 3.6532499191836736e-27 2.060795 298 0.03156445 641 0.008847559373634946 1.25037 132 248 0.01651445 GO Biological Process regulation of transcription from RNA polymerase II promoter in response to stress 88 1.998907e-17 2.9890474105681818e-15 2.208853 144 0.01525262 491 0.001476159199735234 1.434455 69 113 0.008632553 GO Biological Process nuclear-transcribed mRNA catabolic process, nonsense-mediated decay 91 1.850103e-16 2.675330261208791e-14 2.336938 120 0.01271052 383 0.00026920795580417754 1.473215 74 118 0.009258101 GO Biological Process regulation of DNA-templated transcription in response to stress 97 1.626676e-15 2.206745307628866e-13 2.047641 151 0.01599407 540 0.0030025816303703703 1.401612 71 119 0.008882772 GO Biological Process gene silencing by miRNA 189 2.191479e-10 1.5258027598412696e-8 2.352995 70 0.007414469 787 0.025092306867852607 1.548324 29 44 0.003628175 GO Biological Process posttranscriptional gene silencing by RNA 190 2.506516e-10 1.7359602128421054e-8 2.227677 78 0.008261837 750 0.020520320053333332 1.520058 33 51 0.004128613 GO Biological Process posttranscriptional gene silencing 198 4.402179e-10 2.925670376818182e-8 2.199147 78 0.008261837 819 0.030542521014652015 1.490826 33 52 0.004128613 GO Biological Process SRP-dependent cotranslational protein targeting to membrane 207 7.933587e-10 5.0433850885507254e-8 2.100991 84 0.008897363 545 0.0032728292161467894 1.455471 57 92 0.00713124 GO Biological Process cellular response to glucose starvation 211 8.899238e-10 5.550003452227489e-8 2.288682 69 0.007308548 228 0.000002318636000219298 2.031724 32 37 0.004003503 GO Biological Process cotranslational protein targeting to membrane 221 1.633904e-9 9.72875236923077e-8 2.037968 87 0.009215126 501 0.0017296946045508984 1.462245 61 98 0.007631678 GO Biological Process negative regulation of telomere maintenance 228 2.374844e-9 1.370639131403509e-7 2.34909 62 0.006567101 737 0.018105159211668928 1.631375 25 36 0.003127737 GO Biological Process axonal transport 251 7.472276e-9 3.917437445577689e-7 2.293119 61 0.00646118 831 0.032352771239470515 1.56612 26 39 0.003252846 GO Biological Process positive regulation of intrinsic apoptotic signaling pathway 285 2.844608e-8 0.0000013134104095438597 2.078509 70 0.007414469 822 0.0317735741216545 1.479114 34 54 0.004253722 GO Biological Process negative regulation of cell aging 301 5.173699e-8 0.0000022618174465448506 2.727168 39 0.004130918 873 0.039354031933562426 1.82714 14 18 0.001751533 GO Biological Process axo-dendritic transport 314 7.893451e-8 0.0000033079592900955413 2.07062 66 0.006990785 795 0.026651113050314465 1.532074 30 46 0.003753284 GO Biological Process membrane raft assembly 403 7.738585e-7 0.00002526849628163772 3.39631 23 0.002436183 885 0.04200381050960452 2.114262 9 10 0.001125985 GO Biological Process negative regulation of telomere maintenance via telomerase 429 0.000001136632 0.00003486466314219115 2.469011 37 0.003919076 907 0.048811721844542445 1.761885 15 20 0.001876642 GO Biological Process negative regulation of telomere maintenance via telomere lengthening 436 0.000001303009 0.0000393263656674312 2.12695 50 0.005296049 904 0.0472942466028761 1.653127 19 27 0.00237708 GO Biological Process G2 DNA damage checkpoint 519 0.000006968309 0.00017667818522350674 2.065376 46 0.004872365 882 0.041186849427437645 1.589152 23 34 0.002877518 GO Biological Process positive regulation of signal transduction by p53 class mediator 637 0.00003086465 0.0006375948655416013 2.143449 36 0.003813155 630 0.00792411795095238 1.901718 17 21 0.002126861 GO Cellular Component axon cytoplasm 61 3.935965e-9 1.1149750032786885e-7 2.316553 62 0.006567101 100 0.021868945920000004 1.585697 27 40 0.003377956 GO Cellular Component small ribosomal subunit 69 4.961049e-8 0.000001242419227826087 2.059618 69 0.007308548 91 0.009598962145054945 1.468238 45 72 0.005629926 GO Cellular Component chromatin silencing complex 118 0.00001194963 0.0001749911918644068 4.164359 14 0.001482894 98 0.018971976489795917 2.349181 8 8 0.001000876 GO Molecular Function histone methyltransferase activity (H3-K4 specific) 31 6.232276e-10 8.487957829677419e-8 3.655288 33 0.003495392 133 0.030352875412030078 1.934619 14 17 0.001751533 GO Molecular Function cyclin binding 45 9.251054e-8 0.000008679544441777776 2.087725 64 0.006778943 114 0.013186039294736841 1.74294 23 31 0.002877518 GO Molecular Function inositol trisphosphate kinase activity 55 3.261409e-7 0.000025035761450909094 3.262118 26 0.002753946 116 0.01666052883103448 2.349181 9 9 0.001125985 GO Molecular Function single-stranded DNA endodeoxyribonuclease activity 104 0.00001126771 0.0004574256886538461 2.731359 25 0.002648025 136 0.03340213569117647 2.349181 8 8 0.001000876 GO Molecular Function inositol-1,4,5-trisphosphate 3-kinase activity 122 0.00001938537 0.0006708609191803278 2.937951 21 0.002224341 136 0.03340213569117647 2.349181 8 8 0.001000876 GO Molecular Function recombinase activity 301 0.002139564 0.03001076148837209 2.245979 17 0.001800657 136 0.03340213569117647 2.349181 8 8 0.001000876 Human Phenotype Intestinal polyp 388 0.001029955 0.017713633286082473 2.054679 24 0.002542104 282 0.028059207780141843 2.013583 12 14 0.001501314 Human Phenotype Renal malrotation 433 0.001473832 0.022713350891454962 2.329491 17 0.001800657 359 0.04700634066016713 2.349181 7 7 0.0008757663 Mouse Phenotype Single KO decreased tumor growth/size 17 5.835127e-12 3.1430739964117646e-9 2.106997 105 0.0111217 613 0.019467976194127247 1.494933 35 55 0.004378831 Mouse Phenotype Single KO cervical vertebral transformation 25 9.744719e-11 3.56929567532e-8 2.493717 65 0.006884864 368 0.002467444971168478 1.730975 28 38 0.003503065 Mouse Phenotype Single KO abnormal sternebra number 55 1.361176e-8 0.0000022662342967272726 4.128982 24 0.002542104 684 0.03228673859210526 1.987768 11 13 0.001376204 Mouse Phenotype Single KO thoracic vertebral transformation 56 1.54267e-8 0.0000025225409267857145 2.167266 66 0.006990785 516 0.01137669051763566 1.56612 32 48 0.004003503 Mouse Phenotype Single KO increased skin papilloma incidence 70 6.450051e-8 0.000008437588143857142 2.663903 40 0.004236839 572 0.016088000536713287 1.815276 17 22 0.002126861 Mouse Phenotype Single KO persistent right dorsal aorta 90 1.850774e-7 0.000018830597242222225 2.258635 51 0.00540197 384 0.003027084813541667 2.181382 13 14 0.001626423 Mouse Phenotype Single KO enlarged liver sinusoidal spaces 95 2.654791e-7 0.000025589390723157894 2.011271 65 0.006884864 206 0.00008214344636893204 1.904741 30 37 0.003753284 Mouse Phenotype Single KO increased fibroblast apoptosis 122 7.648382e-7 0.000057406749159016397 2.114191 53 0.005613812 498 0.009552012385943776 1.677986 25 35 0.003127737 Mouse Phenotype Single KO increased embryonic neuroepithelium apoptosis 199 0.00001161084 0.0005342736777889447 2.344841 33 0.003495392 567 0.0154419949670194 1.934619 14 17 0.001751533 Mouse Phenotype Single KO testis degeneration 253 0.00003917983 0.0014180620684189724 2.648166 23 0.002436183 684 0.03228673859210526 1.987768 11 13 0.001376204 Mouse Phenotype Single KO increased sternebra number 270 0.00005756709 0.0019523771967777778 3.407741 15 0.001588815 693 0.03341563719047619 2.349181 7 7 0.0008757663 Mouse Phenotype Single KO thin retinal inner plexiform layer 306 0.0001139641 0.0034103570709150327 2.938614 17 0.001800657 716 0.036128444724860334 2.114262 9 10 0.001125985 Mouse Phenotype Single KO abnormal thymus development 398 0.0003533395 0.008129471863065327 2.019836 30 0.003177629 661 0.025925614254160362 1.908709 13 16 0.001626423 Mouse Phenotype Single KO absent subcutaneous adipose tissue 419 0.0004290343 0.009376293759188544 2.022453 29 0.003071709 624 0.020372740134615385 1.854616 15 19 0.001876642 Mouse Phenotype Single KO abnormal response to stress-induced hyperthermia 540 0.001183956 0.020076824244444444 2.252498 19 0.002012499 716 0.036128444724860334 2.114262 9 10 0.001125985 Mouse Phenotype Single KO decreased mortality induced by ionizing radiation 759 0.00411501 0.04964577940711462 2.614187 11 0.001165131 693 0.03341563719047619 2.349181 7 7 0.0008757663 Mouse Phenotype early cellular replicative senescence 24 2.62304e-15 1.04495356e-12 2.333809 111 0.01175723 715 0.010400840914405593 1.448125 45 73 0.005629926 Mouse Phenotype abnormal cellular replicative senescence 27 9.675372e-15 3.4261567293333332e-12 2.213737 119 0.0126046 782 0.015472681227621483 1.398322 50 84 0.006255474 Mouse Phenotype thoracic vertebral transformation 50 1.033349e-12 1.9759699577999999e-10 2.386837 86 0.009109205 559 0.003489990769588551 1.56612 38 57 0.00475416 Mouse Phenotype persistent right dorsal aorta 82 1.442254e-9 1.6816329870731708e-7 2.362386 63 0.006673022 523 0.002440681989866157 2.072806 15 17 0.001876642 Mouse Phenotype enlarged liver sinusoidal spaces 83 1.456218e-9 1.6774578672289155e-7 2.104497 81 0.0085796 271 0.00002692274228302583 1.890804 33 41 0.004128613 Mouse Phenotype cervical vertebral transformation 92 4.169206e-9 4.3328020180434785e-7 2.133176 74 0.007838153 411 0.0005217377216788321 1.748227 32 43 0.004003503 Mouse Phenotype increased fibroblast apoptosis 93 4.649431e-9 4.779915031290322e-7 2.193884 69 0.007308548 568 0.003700298893309859 1.615062 33 48 0.004128613 Mouse Phenotype abnormal sternebra number 106 1.361176e-8 0.0000012277550694339622 4.128982 24 0.002542104 882 0.02614338376530612 1.987768 11 13 0.001376204 Mouse Phenotype increased skin papilloma incidence 107 1.366435e-8 0.000001220979909813084 2.119412 70 0.007414469 800 0.01656004639125 1.56612 28 42 0.003503065 Mouse Phenotype decreased abdominal adipose tissue amount 139 1.199329e-7 0.000008249485301438848 2.676817 38 0.004024997 920 0.02902545007826087 1.69141 18 25 0.00225197 Mouse Phenotype increased teratoma incidence 155 2.029595e-7 0.000012519327609677418 2.479716 42 0.004448681 805 0.01648876995279503 1.854616 15 19 0.001876642 Mouse Phenotype increased embryonic neuroepithelium apoptosis 202 0.000001339635 0.00006340717938118811 2.300211 42 0.004448681 533 0.002708572104315197 1.879344 20 25 0.002502189 Mouse Phenotype lymphoid hyperplasia 222 0.000002472604 0.00010648903983783784 2.013355 54 0.005719733 889 0.026740127365579302 1.615062 22 32 0.002752408 Mouse Phenotype abnormal ureteric bud invasion 246 0.000004227671 0.00016431204240243902 2.107353 46 0.004872365 850 0.021050464948235294 1.908709 13 16 0.001626423 Mouse Phenotype increased sternebra number 380 0.00005756709 0.0014484182828684209 3.407741 15 0.001588815 897 0.02695508108026756 2.349181 7 7 0.0008757663 Mouse Phenotype abnormal kidney medulla development 449 0.0001239973 0.00264039684922049 2.813802 18 0.001906578 897 0.02695508108026756 2.349181 7 7 0.0008757663 Mouse Phenotype decreased retinal apoptosis 500 0.0002186174 0.0041804019228 2.256414 25 0.002648025 928 0.029104786399784484 2.114262 9 10 0.001125985 Mouse Phenotype decreased spongiotrophoblast size 590 0.0005032156 0.00815465144338983 2.06042 27 0.002859867 805 0.01648876995279503 1.854616 15 19 0.001876642 Mouse Phenotype absent metanephros 638 0.0006874079 0.010301421523354231 2.016835 27 0.002859867 1029 0.045063743297376085 1.95765 10 12 0.001251095 Mouse Phenotype abnormal response to stress-induced hyperthermia 729 0.001183956 0.015527850913580247 2.252498 19 0.002012499 928 0.029104786399784484 2.114262 9 10 0.001125985