# 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 heterochromatin organization 80 6.951493e-25 1.1434337048375e-22 5.011441 65 0.005048544 1019 0.028756379487733068 1.802289 12 13 0.00124779 GO Biological Process nuclear-transcribed mRNA catabolic process, nonsense-mediated decay 88 3.385861e-21 5.063016465795455e-19 2.313405 162 0.01258252 750 0.006600582472533333 1.307169 79 118 0.00821462 GO Biological Process viral gene expression 121 4.147211e-15 4.5101776486776856e-13 2.004641 155 0.01203883 695 0.004416512568920863 1.306778 85 127 0.008838515 GO Biological Process regulation of mitochondrial membrane permeability 134 2.697013e-14 2.648507019925373e-12 2.019303 143 0.0111068 888 0.013596536749999999 1.364061 51 73 0.005303109 GO Biological Process cotranslational protein targeting to membrane 142 1.841378e-13 1.706386838169014e-11 2.095602 122 0.009475728 674 0.003736302812611276 1.354782 68 98 0.007070812 GO Biological Process SRP-dependent cotranslational protein targeting to membrane 158 5.92704e-13 4.936324010126582e-11 2.10918 115 0.008932039 925 0.01702690666918919 1.315802 62 92 0.006446917 GO Biological Process adherens junction assembly 179 2.930988e-12 2.1546855358659215e-10 2.161558 102 0.00792233 656 0.0033099077425304876 1.607925 28 34 0.002911511 GO Biological Process positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway 200 1.920695e-11 1.2637212752500003e-9 2.21703 89 0.006912621 1011 0.026486528913946587 1.477552 28 37 0.002911511 GO Biological Process histone ubiquitination 201 2.111798e-11 1.3825447702487562e-9 2.212807 89 0.006912621 489 0.0003640753542740287 1.652098 33 39 0.003431424 GO Biological Process regulation of cholesterol metabolic process 212 4.30493e-11 2.672102541037736e-9 2.110546 96 0.007456311 853 0.01129526753563892 1.436731 39 53 0.004055319 GO Biological Process histone H4-K16 acetylation 222 7.516456e-11 4.455362365045045e-9 3.706166 36 0.002796117 1019 0.028756379487733068 1.802289 12 13 0.00124779 GO Biological Process protein transmembrane transport 225 8.108503e-11 4.742212932311111e-9 2.041681 101 0.00784466 879 0.012870641249032993 1.394629 45 63 0.004679214 GO Biological Process histone monoubiquitination 255 2.191264e-10 1.1307781559215687e-8 2.406549 67 0.005203883 848 0.010920483405424529 1.603823 23 28 0.002391598 GO Biological Process intracellular protein transmembrane transport 297 1.961605e-9 8.691165048821548e-8 2.012739 89 0.006912621 972 0.022303570873456788 1.394629 40 56 0.004159301 GO Biological Process positive regulation of pri-miRNA transcription from RNA polymerase II promoter 335 1.352352e-8 5.312119393432836e-7 2.310255 58 0.004504854 986 0.02413021615618661 1.659608 17 20 0.001767703 GO Biological Process regulation of cholesterol biosynthetic process 347 1.716419e-8 6.509036778386167e-7 2.016332 78 0.006058252 1028 0.030086888646887158 1.441116 31 42 0.003223458 GO Biological Process viral translation 535 0.000001264844 0.00003111043401121496 3.82539 19 0.001475728 1019 0.028756379487733068 1.802289 12 13 0.00124779 GO Biological Process histone H2A monoubiquitination 549 0.000001931553 0.000046297460704918036 2.218215 44 0.003417476 967 0.02187770161220269 1.722776 15 17 0.001559738 GO Biological Process histone H2A ubiquitination 562 0.000002483901 0.000058159525371886115 2.113668 48 0.003728155 826 0.010010072010290555 1.686233 19 22 0.001975668 GO Molecular Function DNA polymerase binding 17 1.54223e-16 3.8301735647058823e-14 5.523909 38 0.002951456 124 0.012338972051612903 1.83045 15 16 0.001559738 GO Molecular Function mitogen-activated protein kinase binding 109 8.655508e-7 0.000033526197042201834 2.073493 55 0.004271845 151 0.03191974597350994 1.59091 22 27 0.002287616 Human Phenotype Intestinal polyp 40 2.873017e-7 0.000047929106102500004 2.511097 40 0.003106796 94 0.00603913669925532 1.95248 14 14 0.001455755 Human Phenotype Neoplasm of the colon 365 0.0009994068 0.018271346784657534 2.025603 25 0.001941748 231 0.03579738071861472 1.95248 10 10 0.001039825 Mouse Phenotype Single KO vertebral transformation 4 4.169038e-18 9.5439702415e-15 2.010583 188 0.01460194 179 0.00004135772862234637 1.485583 70 92 0.007278777 Mouse Phenotype Single KO thoracic vertebral transformation 15 1.794472e-12 1.0954653402666668e-9 2.263429 94 0.007300971 411 0.004605373901216545 1.505037 37 48 0.003847354 Mouse Phenotype Single KO cervical vertebral transformation 40 1.12569e-8 0.0000025769858325000005 2.081787 74 0.005747573 355 0.002653677964507042 1.592813 31 38 0.003223458 Mouse Phenotype Single KO pale placenta 58 9.823061e-8 0.000015508580961551725 2.659259 39 0.003029126 649 0.031419120268104776 1.802289 12 13 0.00124779 Mouse Phenotype Single KO abnormal stapedial artery morphology 59 1.126803e-7 0.000017488364527118644 2.505533 43 0.003339806 407 0.004417735028255528 1.837628 16 17 0.00166372 Mouse Phenotype Single KO absent stapedial artery 63 1.425539e-7 0.00002072009622698413 2.514722 42 0.003262136 455 0.007293302959120879 1.83045 15 16 0.001559738 Mouse Phenotype Single KO absent hypoglossal nerve 96 0.000001235856 0.00011788263949999999 2.715365 31 0.002407767 511 0.011943670425440311 1.822315 14 15 0.001455755 Mouse Phenotype Single KO kidney medulla cysts 102 0.000001556424 0.00013972720164705883 2.684338 31 0.002407767 579 0.019598225758203802 1.95248 10 10 0.001039825 Mouse Phenotype Single KO prolonged circadian period 164 0.00001097255 0.000612656343597561 2.352201 33 0.002563107 675 0.03283800587851852 1.95248 9 9 0.0009358428 Mouse Phenotype Single KO abnormal ductus venosus valve topology 322 0.0001795645 0.005106435175465839 2.333187 24 0.001864078 579 0.019598225758203802 1.95248 10 10 0.001039825 Mouse Phenotype Single KO trigeminal neuroma 375 0.0003119357 0.007617053879733333 2.244114 24 0.001864078 579 0.019598225758203802 1.95248 10 10 0.001039825 Mouse Phenotype abnormal cellular replicative senescence 3 4.412288e-20 1.4061961856e-16 2.237142 164 0.01273786 872 0.01585632641972477 1.324897 57 84 0.005927004 Mouse Phenotype early cellular replicative senescence 4 9.80862e-20 2.3445053955e-16 2.312621 150 0.01165049 930 0.020942753661290323 1.337315 50 73 0.005199127 Mouse Phenotype thoracic vertebral transformation 15 4.115514e-15 2.6232286236e-12 2.299712 113 0.008776699 592 0.00247712266722973 1.472923 43 57 0.004471249 Mouse Phenotype abnormal rib development 22 1.056235e-13 4.590301288636364e-11 2.423907 91 0.007067961 1053 0.031325949136752136 1.479152 25 33 0.002599563 Mouse Phenotype ectopic cortical neuron 24 2.878137e-13 1.1465778273749999e-10 3.950248 42 0.003262136 965 0.023982990739896373 1.95248 9 9 0.0009358428 Mouse Phenotype absent hypoglossal canal 69 4.381779e-9 6.071621596956521e-7 4.568624 23 0.001786408 1123 0.040254440764915404 1.95248 8 8 0.0008318602 Mouse Phenotype absent hypoglossal nerve 154 0.000001235856 0.0000767273975064935 2.715365 31 0.002407767 755 0.008440377351258278 1.822315 14 15 0.001455755 Mouse Phenotype kidney medulla cysts 159 0.000001371751 0.00008248623466037736 2.354094 40 0.003106796 755 0.008440377351258278 1.822315 14 15 0.001455755 Mouse Phenotype abnormal stapedial artery morphology 169 0.00000256386 0.00014504772461538463 2.111108 48 0.003728155 664 0.004248218683283133 1.757232 18 20 0.001871686 Mouse Phenotype prolonged circadian period 186 0.000003271021 0.00016814103108064515 2.422655 35 0.002718447 745 0.008141083698120805 1.95248 11 11 0.001143808 Mouse Phenotype absent stapedial artery 187 0.000003282531 0.00016783036840106955 2.109846 47 0.003650485 723 0.006902818513278008 1.746956 17 19 0.001767703 Mouse Phenotype tachypnea 208 0.00000623266 0.0002864926070192308 2.286792 37 0.002873786 797 0.01102128979799247 1.735538 16 18 0.00166372 Mouse Phenotype abnormal peritoneum morphology 253 0.00001715912 0.0006484519617391305 2.410363 30 0.002330097 965 0.023982990739896373 1.95248 9 9 0.0009358428 Mouse Phenotype abnormal roof plate morphology 266 0.0000232829 0.0008368714545112782 2.036588 42 0.003262136 938 0.022697915929637526 1.802289 12 13 0.00124779 Mouse Phenotype increased hamartoma incidence 276 0.0000280684 0.0009723259869565216 2.34551 30 0.002330097 669 0.004640697886098655 1.95248 12 12 0.00124779 Mouse Phenotype increased fibroma incidence 277 0.00002852393 0.0009845389701444043 2.63932 24 0.001864078 965 0.023982990739896373 1.95248 9 9 0.0009358428 Mouse Phenotype decreased abdominal adipose tissue amount 310 0.00005548745 0.0017113403530645158 2.014515 39 0.003029126 1011 0.027792852931750742 1.561984 20 25 0.002079651 Mouse Phenotype abnormal ductus venosus valve topology 400 0.0001795645 0.0042920404612500004 2.333187 24 0.001864078 854 0.013873548386416861 1.95248 10 10 0.001039825 Mouse Phenotype trigeminal neuroma 450 0.0003119357 0.006627593839333333 2.244114 24 0.001864078 854 0.013873548386416861 1.95248 10 10 0.001039825 Mouse Phenotype absent patella 466 0.0003436419 0.007050558381759656 2.081942 28 0.002174757 1123 0.040254440764915404 1.95248 8 8 0.0008318602