# 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 66 3.784899e-24 7.546285748636363e-22 3.924106 82 0.004192229 1170 0.030352009543589742 1.455581 22 25 0.001937984 GO Biological Process gene silencing by miRNA 75 7.356876e-21 1.2907884171199999e-18 2.401231 148 0.007566462 621 0.000801291982930757 1.466107 39 44 0.003435518 GO Biological Process regulation of histone deacetylation 100 5.769767e-18 7.592436395299999e-16 2.503043 116 0.00593047 1081 0.02224500343478261 1.463216 23 26 0.002026075 GO Biological Process posttranscriptional gene silencing by RNA 101 1.158885e-17 1.5098779915841583e-15 2.15046 156 0.00797546 557 0.0002876836172351885 1.459473 45 51 0.003964059 GO Biological Process posttranscriptional gene silencing 102 1.589216e-17 2.050244445490196e-15 2.136528 157 0.008026585 534 0.00020384772003558053 1.463216 46 52 0.004052149 GO Biological Process heterochromatin organization 114 5.492051e-17 6.339464834122807e-15 3.400184 67 0.003425358 1034 0.01829456063926499 1.65407 13 13 0.001145173 GO Biological Process IRE1-mediated unfolded protein response 128 3.748783e-16 3.853924648203125e-14 2.256143 127 0.006492843 926 0.009429712399892008 1.340367 47 58 0.00414024 GO Biological Process positive regulation of histone deacetylation 141 4.51848e-15 4.2169275404255314e-13 2.583613 90 0.004601227 1123 0.027252394459483527 1.556772 16 17 0.001409443 GO Biological Process response to laminar fluid shear stress 154 2.296802e-14 1.962572566103896e-12 2.438674 95 0.004856851 973 0.011748406591778005 1.65407 14 14 0.001233263 GO Biological Process production of miRNAs involved in gene silencing by miRNA 259 7.945294e-11 4.036761534594594e-9 2.176992 87 0.004447853 788 0.0035126998643401014 1.531546 25 27 0.002202255 GO Biological Process nuclear migration 260 8.774597e-11 4.4409585355e-9 2.845232 52 0.002658487 1136 0.02755495758362676 1.65407 12 12 0.001057082 GO Biological Process multi-organism membrane organization 291 3.013934e-10 1.3628988833676977e-8 2.220888 78 0.00398773 1293 0.046824138864655834 1.387284 26 31 0.002290345 GO Biological Process virion assembly 351 3.326535e-9 1.2471189192307693e-7 2.099615 78 0.00398773 1183 0.03152958691124261 1.378391 30 36 0.002642706 GO Biological Process nucleus localization 380 7.015952e-9 2.4295503254736844e-7 2.158886 70 0.003578732 807 0.0038783274478314746 1.578885 21 22 0.001849894 GO Biological Process regulation of oxidative phosphorylation 390 8.531088e-9 2.878476589538462e-7 2.269089 62 0.003169734 721 0.0021134996593619973 1.65407 18 18 0.001585624 GO Biological Process positive regulation of mitochondrial membrane permeability 526 1.834991e-7 0.000004590617218441065 2.01073 67 0.003425358 1269 0.041923091149724194 1.488663 18 20 0.001585624 GO Biological Process mismatch repair 544 2.61744e-7 0.000006331414147058824 2.080248 60 0.003067485 1237 0.038928492030719485 1.417774 24 28 0.002114165 GO Biological Process membrane protein ectodomain proteolysis 580 4.551126e-7 0.000010325563281724138 2.072931 58 0.002965235 1269 0.041923091149724194 1.488663 18 20 0.001585624 GO Cellular Component intrinsic component of mitochondrial outer membrane 50 1.41028e-11 4.87392768e-10 2.666131 63 0.003220859 205 0.04893067176585366 1.438322 20 23 0.001761804 GO Molecular Function NF-kappaB binding 39 1.616756e-13 1.750242008205128e-11 2.477862 86 0.004396728 125 0.0046023549136 1.535922 26 28 0.002290345 Human Phenotype Abnormality of subcutaneous fat tissue 41 5.839003e-12 9.503333419268293e-10 2.36328 82 0.004192229 439 0.027777418931662873 1.463216 23 26 0.002026075 Human Phenotype Lower limb amyotrophy 53 6.592145e-11 8.299883695283018e-9 2.772159 55 0.002811861 390 0.014863648945128205 1.65407 14 14 0.001233263 Human Phenotype Upper limb muscle weakness 100 7.631456e-9 5.092470588800001e-7 2.848194 41 0.002096115 460 0.03450789631521739 1.65407 12 12 0.001057082 Human Phenotype Abnormality of skeletal muscle fiber size 114 1.780002e-8 0.0000010419257321052632 2.047417 75 0.003834356 406 0.019103286891625618 1.510238 21 23 0.001849894 Human Phenotype Increased variability in muscle fiber diameter 134 5.558665e-8 0.0000027681322048507465 2.020275 72 0.003680982 363 0.010959295848209366 1.571366 19 20 0.001673714 Human Phenotype Facial diplegia 484 0.0001799221 0.002480620192768595 2.024723 33 0.001687117 422 0.02273151124881517 1.65407 13 13 0.001145173 Mouse Phenotype Single KO thin interventricular septum 3 3.756864e-24 1.1467201216e-20 3.200807 107 0.005470348 652 0.0132136015601227 1.567013 18 19 0.001585624 Mouse Phenotype Single KO abnormal interventricular septum thickness 9 1.43129e-22 1.456258058888889e-19 2.33196 171 0.008742331 487 0.004595279685420944 1.423269 37 43 0.003259338 Mouse Phenotype Single KO enlarged liver sinusoidal spaces 15 1.61901e-18 9.883516379999998e-16 2.240256 150 0.007668712 760 0.02435990925 1.385842 31 37 0.002730796 Mouse Phenotype Single KO thoracic vertebral transformation 16 1.681547e-18 9.623703674375e-16 2.282337 144 0.007361963 736 0.021613717485054352 1.343932 39 48 0.003435518 Mouse Phenotype Single KO decreased circulating total protein level 20 1.594021e-17 7.298225148499999e-15 2.001644 184 0.009406953 596 0.010195147219630872 1.340367 47 58 0.00414024 Mouse Phenotype Single KO absent stapedial artery 36 2.94295e-14 7.485720319444444e-12 2.837603 72 0.003680982 508 0.005717571315551181 1.65407 16 16 0.001409443 Mouse Phenotype Single KO abnormal stapedial artery morphology 41 1.052633e-13 2.3509659465853657e-11 2.761484 72 0.003680982 787 0.027060761745870396 1.556772 16 17 0.001409443 Mouse Phenotype Single KO abnormal white fat cell number 50 3.137371e-13 5.7457812494e-11 2.364207 92 0.004703476 450 0.0023564338915555553 1.65407 18 18 0.001585624 Mouse Phenotype Single KO decreased white fat cell number 60 1.124962e-12 1.7168795056666667e-10 2.989695 58 0.002965235 796 0.027364992770100502 1.65407 12 12 0.001057082 Mouse Phenotype Single KO abnormal pharyngeal muscle morphology 67 2.882404e-12 3.939428869850746e-10 3.317848 48 0.002453988 881 0.04091219755391601 1.65407 11 11 0.0009689922 Mouse Phenotype Single KO double ureter 71 4.21839e-12 5.44053482112676e-10 2.565773 71 0.003629857 881 0.04091219755391601 1.65407 11 11 0.0009689922 Mouse Phenotype Single KO absent segment of posterior cerebral artery 89 2.86372e-11 2.9464139370786517e-9 2.403403 74 0.003783231 741 0.021846278766531717 1.5037 20 22 0.001761804 Mouse Phenotype Single KO abnormal cerebral artery morphology 139 2.113322e-9 1.392207881582734e-7 2.099774 80 0.00408998 621 0.0112292895568438 1.516231 22 24 0.001937984 Mouse Phenotype Single KO heterochrony 142 2.28873e-9 1.4759084936619717e-7 2.207706 71 0.003629857 787 0.027060761745870396 1.556772 16 17 0.001409443 Mouse Phenotype Single KO small superior cervical ganglion 143 2.406844e-9 1.541221713846154e-7 2.004928 89 0.004550102 628 0.012036764224681529 1.447311 28 32 0.002466526 Mouse Phenotype Single KO reduced sympathetic cervical ganglion size 188 2.862208e-8 0.0000013941084391489363 2.673252 42 0.002147239 701 0.018778237693295292 1.65407 13 13 0.001145173 Mouse Phenotype Single KO fusion of vertebral bodies 233 1.64332e-7 0.000006458318128755365 2.72846 36 0.001840491 881 0.04091219755391601 1.65407 11 11 0.0009689922 Mouse Phenotype Single KO abnormal cervical rib 399 0.000009132084 0.00020958018342857141 2.081679 44 0.002249489 881 0.04091219755391601 1.65407 11 11 0.0009689922 Mouse Phenotype Single KO increased adrenal gland tumor incidence 457 0.00002578026 0.000516564203107221 2.319416 31 0.001584867 881 0.04091219755391601 1.65407 11 11 0.0009689922 Mouse Phenotype enlarged liver sinusoidal spaces 8 1.131109e-23 1.351816643625e-20 2.307439 184 0.009406953 917 0.0052314726641221375 1.412011 35 41 0.003083157 Mouse Phenotype abnormal rib development 18 5.146872e-21 2.7338468440000002e-18 2.472134 141 0.007208589 1176 0.018654267099489797 1.403453 28 33 0.002466526 Mouse Phenotype absent stapedial artery 23 7.603426e-20 3.160711129826087e-17 2.925273 99 0.00506135 669 0.0009999203925112107 1.65407 19 19 0.001673714 Mouse Phenotype abnormal stapedial artery morphology 26 2.89927e-19 1.0661507873076924e-16 2.866043 99 0.00506135 939 0.0060702402079872205 1.571366 19 20 0.001673714 Mouse Phenotype thoracic vertebral transformation 27 5.708719e-19 2.0215208281111112e-16 2.183539 163 0.008333333 1203 0.01902891734663342 1.305845 45 57 0.003964059 Mouse Phenotype decreased circulating total protein level 35 1.018044e-17 2.7810053382857144e-15 2.002729 186 0.009509202 909 0.00513263615280528 1.345684 48 59 0.00422833 Mouse Phenotype thin interventricular septum 42 6.591285e-17 1.500458949642857e-14 2.057869 165 0.008435583 1110 0.013860194091891891 1.410824 29 34 0.002554616 Mouse Phenotype abnormal thymus involution 48 5.144928e-16 1.024805346e-13 2.588517 96 0.004907975 1052 0.010563323617870723 1.510238 21 23 0.001849894 Mouse Phenotype subcutaneous edema 51 6.67671e-15 1.2516867511764706e-12 2.345326 107 0.005470348 1448 0.04269751115883978 1.378391 25 30 0.002202255 Mouse Phenotype increased adrenal gland tumor incidence 55 1.317789e-14 2.2907964779999998e-12 3.116787 64 0.003271984 786 0.0023313464549618323 1.65407 17 17 0.001497533 Mouse Phenotype increased lactate dehydrogenase level 71 6.013931e-13 8.098478069154929e-11 2.214823 103 0.005265849 1448 0.04269751115883978 1.378391 25 30 0.002202255 Mouse Phenotype abnormal base-excision repair 74 7.517248e-13 9.712487584864865e-11 3.760251 43 0.002198364 1456 0.042768362385989016 1.65407 10 10 0.000880902 Mouse Phenotype ectopic thymus 75 1.040715e-12 1.3267034819999998e-10 2.403866 85 0.004345603 1088 0.012632638215992647 1.65407 13 13 0.001145173 Mouse Phenotype persistent right dorsal aorta 94 6.142463e-12 6.247669015212766e-10 2.04521 113 0.005777096 1182 0.018812537446700507 1.556772 16 17 0.001409443 Mouse Phenotype decreased abdominal adipose tissue amount 97 9.435449e-12 9.300239988556701e-10 2.482031 73 0.003732106 913 0.005208611839320919 1.521744 23 25 0.002026075 Mouse Phenotype absent segment of posterior cerebral artery 108 2.86372e-11 2.535187677777778e-9 2.403403 74 0.003783231 1129 0.014971035534100976 1.5037 20 22 0.001761804 Mouse Phenotype abnormal infrahyoid muscle morphology 130 1.606419e-10 1.1814593891538463e-8 3.161297 43 0.002198364 1456 0.042768362385989016 1.65407 10 10 0.000880902 Mouse Phenotype abnormal cerebral artery morphology 164 2.113322e-9 1.232040953780488e-7 2.099774 80 0.00408998 969 0.007513982993188855 1.516231 22 24 0.001937984 Mouse Phenotype heterochrony 167 2.28873e-9 1.3103321874251496e-7 2.207706 71 0.003629857 1182 0.018812537446700507 1.556772 16 17 0.001409443 Mouse Phenotype delayed hepatic development 180 3.543337e-9 1.8821025031666668e-7 2.169921 72 0.003680982 1003 0.008280781146759722 1.65407 14 14 0.001233263