# 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 negative regulation of translation 132 3.314857e-49 3.304560853257576e-47 2.040526 524 0.02499523 215 2.3340742587441857e-8 1.401487 120 143 0.01067331 GO Biological Process nuclear-transcribed mRNA catabolic process 148 1.158653e-44 1.0301834342567569e-42 2.049944 469 0.02237168 589 0.0022498717541595925 1.214622 144 198 0.01280797 GO Biological Process gene silencing by miRNA 154 8.556643e-44 7.31148475564935e-42 3.133554 207 0.00987407 881 0.024205196337116913 1.36645 36 44 0.003201992 GO Biological Process posttranscriptional gene silencing 162 2.511575e-42 2.040112063271605e-40 2.882235 227 0.01082809 690 0.006930580212898551 1.381049 43 52 0.003824602 GO Biological Process cholesterol metabolic process 174 7.383197e-41 5.583648811666667e-39 2.168076 375 0.01788781 542 0.0012080726775830256 1.297314 87 112 0.007738148 GO Biological Process posttranscriptional gene silencing by RNA 175 7.743433e-41 5.822619134114286e-39 2.855317 222 0.01058958 721 0.00925101973883495 1.375381 42 51 0.003735658 GO Biological Process secondary alcohol metabolic process 176 1.210469e-40 9.050319074431817e-39 2.14047 384 0.01831712 620 0.003428849119677419 1.270422 89 117 0.007916037 GO Biological Process mitochondrial membrane organization 180 2.706302e-39 1.978457112111111e-37 2.0747 399 0.01903263 732 0.010336890659016393 1.239111 92 124 0.008182869 GO Biological Process nuclear-transcribed mRNA catabolic process, nonsense-mediated decay 191 1.285995e-37 8.859899583769634e-36 2.411807 275 0.01311773 828 0.017838947493961352 1.231349 87 118 0.007738148 GO Biological Process gene silencing by RNA 212 9.858262e-34 6.119097625377359e-32 2.292062 272 0.01297462 655 0.004953443374503817 1.323071 61 77 0.005425598 GO Biological Process RNA 3'-end processing 244 5.07813e-30 2.7386521586065573e-28 2.263495 247 0.0117821 701 0.007741925888445079 1.264286 81 107 0.007204483 GO Biological Process maintenance of protein location in cell 249 7.642608e-30 4.0389188221686746e-28 2.212036 258 0.01230681 346 0.000017701783447976878 1.4257 70 82 0.006226096 GO Biological Process negative regulation of cellular response to transforming growth factor beta stimulus 262 7.770777e-29 3.9028875779770996e-27 2.064121 292 0.01392864 365 0.000029078350811780824 1.452266 60 69 0.005336654 GO Biological Process negative regulation of transforming growth factor beta receptor signaling pathway 272 3.112105e-28 1.505595209375e-26 2.05686 288 0.01373784 388 0.000058263405652061855 1.445763 58 67 0.005158765 GO Biological Process maintenance of protein location 309 5.626299e-26 2.3960022181553397e-24 2.013246 278 0.01326083 312 0.000004249218240384616 1.428868 77 90 0.006848706 GO Biological Process maintenance of protein localization in organelle 339 3.895865e-24 1.5122621691740415e-22 3.309957 102 0.004865484 804 0.016021064496393036 1.454608 27 31 0.002401494 GO Biological Process viral gene expression 342 5.401527e-24 2.0783243799122808e-22 2.017492 254 0.01211601 671 0.005641390771684053 1.249292 95 127 0.008449702 GO Biological Process adherens junction assembly 345 7.19323e-24 2.743643871594203e-22 2.342677 180 0.008586148 843 0.020275599492289447 1.424502 29 34 0.002579383 GO Biological Process SRP-dependent cotranslational protein targeting to membrane 349 1.105231e-23 4.1672592346704874e-22 2.230252 198 0.009444762 1042 0.042787321987523996 1.234426 68 92 0.006048208 GO Biological Process cotranslational protein targeting to membrane 375 2.836065e-22 9.951941156e-21 2.1415 203 0.009683267 1044 0.04272689486781609 1.227017 72 98 0.006403985 GO Cellular Component ribonucleoprotein granule 45 1.30846e-53 5.0244864e-52 2.003054 599 0.02857279 60 0.00000406639584 1.293261 151 195 0.01343058 GO Cellular Component cytoplasmic stress granule 65 3.681052e-33 9.785935163076924e-32 2.783939 186 0.008872353 91 0.0007853271982417582 1.475907 38 43 0.003379881 GO Cellular Component P-body 69 7.065577e-30 1.76946624e-28 2.127911 282 0.01345163 116 0.010326261351724137 1.287792 64 83 0.005692431 GO Cellular Component cleavage furrow 101 1.481004e-20 2.5338365465346534e-19 2.131994 188 0.008967754 97 0.0018733782432989693 1.413166 44 52 0.003913546 GO Cellular Component host cell 112 4.922331e-19 7.594453542857142e-18 2.085971 182 0.008681549 128 0.0171017055 1.3017 53 68 0.004714044 GO Cellular Component Sin3 complex 279 3.889528e-7 0.000002408997987096774 2.203141 51 0.002432742 129 0.01698527553488372 1.670106 13 13 0.001156275 GO Cellular Component Sin3-type complex 300 0.000001511118 0.000008704039680000002 2.006361 57 0.002718947 149 0.03699244413422819 1.565724 15 16 0.001334163 GO Molecular Function mRNA 5'-UTR binding 87 6.360771e-18 3.086801742758621e-16 3.003182 85 0.00405457 153 0.04126331687581699 1.518278 20 22 0.001778885 Human Phenotype Abnormality of the shoulder 91 4.504617e-16 3.303220795714286e-14 2.021971 163 0.007775234 208 0.006259418367788461 1.508483 28 31 0.002490438 Human Phenotype Limb hypertonia 118 4.216473e-15 2.384451214322034e-13 2.457977 99 0.004722381 343 0.03926200597376094 1.571864 16 17 0.001423108 Human Phenotype Spinal rigidity 234 3.967609e-12 1.1314467887606837e-10 2.54994 72 0.003434459 359 0.042520356 1.511048 19 21 0.00168994 Human Phenotype Microretrognathia 374 7.48942e-10 1.3362807395721925e-8 2.334121 67 0.003195955 210 0.006251431636190476 1.594192 21 22 0.001867829 Human Phenotype Rimmed vacuoles 531 5.001929e-8 6.285851641619585e-7 2.385861 50 0.002385041 269 0.018825287123420072 1.670106 14 14 0.001245219 Mouse Phenotype Single KO extramedullary hematopoiesis 48 1.467453e-36 2.7994723168750004e-34 2.059017 377 0.01798321 770 0.031697752277922084 1.215954 83 114 0.007382371 Mouse Phenotype Single KO enlarged liver sinusoidal spaces 53 1.078967e-34 1.8641699658490563e-32 2.759092 198 0.009444762 682 0.02178306634457478 1.399278 31 37 0.002757271 Mouse Phenotype Single KO abnormal liver sinusoid morphology 56 1.882728e-33 3.0785964814285714e-31 2.306945 266 0.01268842 735 0.027310198096598636 1.290536 51 66 0.004536156 Mouse Phenotype Single KO increased integument system tumor incidence 72 1.356906e-29 1.7257205891666665e-27 2.291648 237 0.01130509 708 0.024560121622881355 1.274554 58 76 0.005158765 Mouse Phenotype Single KO abnormal cell adhesion 88 4.853486e-26 5.050383102499999e-24 2.026994 274 0.01307002 371 0.0007963164146630728 1.415344 50 59 0.004447212 Mouse Phenotype Single KO abnormal interventricular septum thickness 143 2.333084e-20 1.4939895236363637e-18 2.201232 173 0.008252242 737 0.027844685118046133 1.359388 35 43 0.003113048 Mouse Phenotype Single KO thin interventricular septum 295 1.371764e-13 4.258048456949152e-12 2.45614 88 0.004197672 607 0.012082459352059307 1.582206 18 19 0.001600996 Mouse Phenotype Single KO increased mammary gland tumor incidence 326 6.00905e-13 1.68787947392638e-11 2.151266 110 0.00524709 847 0.040571499348288076 1.362455 31 38 0.002757271 Mouse Phenotype Single KO abnormal thymus development 339 1.230226e-12 3.323061794100295e-11 2.455974 81 0.003863766 798 0.0366020895914787 1.565724 15 16 0.001334163 Mouse Phenotype Single KO increased hemangiosarcoma incidence 570 3.96981e-9 6.377464942105262e-8 2.038304 83 0.003959168 818 0.03768610366381418 1.461343 21 24 0.001867829 Mouse Phenotype Single KO increased incidence of corneal inflammation 819 6.352303e-7 0.000007102324611843712 2.065324 57 0.002718947 798 0.0366020895914787 1.565724 15 16 0.001334163 Mouse Phenotype enlarged liver sinusoidal spaces 68 5.602136e-42 7.876767984705883e-40 2.784737 238 0.0113528 801 0.004628106492883895 1.4257 35 41 0.003113048 Mouse Phenotype abnormal cell adhesion 72 1.111093e-40 1.4754389129166668e-38 2.156159 378 0.01803091 429 0.00008767824788811189 1.406405 64 76 0.005692431 Mouse Phenotype abnormal keratinocyte physiology 79 1.090041e-39 1.3192255697468355e-37 2.017173 432 0.02060675 498 0.00029385368722891565 1.315393 89 113 0.007916037 Mouse Phenotype abnormal liver sinusoid morphology 86 6.791881e-38 7.550834214069767e-36 2.192929 338 0.01612288 699 0.002515233744635193 1.32752 62 78 0.005514542 Mouse Phenotype increased skin tumor incidence 119 3.108322e-31 2.4973669447058822e-29 2.148633 289 0.01378554 885 0.008132098286779662 1.276036 68 89 0.006048208 Mouse Phenotype decreased susceptibility to hepatic steatosis 159 1.718709e-26 1.033495393018868e-24 2.030086 278 0.01326083 1014 0.01381474924556213 1.279691 59 77 0.00524771 Mouse Phenotype increased squamous cell carcinoma incidence 169 4.350005e-25 2.4609702843195263e-23 2.209532 215 0.01025568 449 0.00012259099294209354 1.477401 46 52 0.004091435 Mouse Phenotype abnormal hair follicle orientation 217 1.776421e-20 7.82689455345622e-19 2.133041 187 0.008920053 1321 0.03922342710295231 1.391755 25 30 0.002223606 Mouse Phenotype tachypnea 224 9.790783e-20 4.179003404598214e-18 3.22639 85 0.00405457 986 0.012344530971602435 1.577322 17 18 0.001512052 Mouse Phenotype increased fibroblast apoptosis 289 5.33885e-17 1.7662541470588235e-15 2.147829 150 0.007155123 1209 0.02967659272208437 1.322167 38 48 0.003379881 Mouse Phenotype increased pulmonary respiratory rate 313 4.079395e-16 1.2461052905750799e-14 2.106035 148 0.007059721 1172 0.026383187923208193 1.383802 29 35 0.002579383 Mouse Phenotype increased adrenal gland tumor incidence 352 9.562475e-15 2.597352939630682e-13 3.044364 67 0.003195955 691 0.002250442167438495 1.670106 17 17 0.001512052 Mouse Phenotype dry eyes 402 7.725575e-14 1.8374184720149253e-12 2.374557 96 0.004579279 1165 0.026177788207725323 1.565724 15 16 0.001334163 Mouse Phenotype abnormal hair follicle infundibulum morphology 452 5.988801e-13 1.2667904062168142e-11 3.073695 57 0.002718947 1341 0.04216351804697986 1.670106 10 10 0.0008894423 Mouse Phenotype abnormal jejunum morphology 455 8.551388e-13 1.7969191355604395e-11 2.262892 97 0.00462698 1373 0.04439811556955572 1.413166 22 26 0.001956773 Mouse Phenotype decreased small intestinal villus height 496 2.479382e-12 4.779308730241935e-11 4.202916 36 0.00171723 1199 0.028225866182652208 1.670106 11 11 0.0009783866 Mouse Phenotype increased renal carcinoma incidence 567 3.935743e-11 6.636620603703704e-10 3.888019 35 0.001669529 1341 0.04216351804697986 1.670106 10 10 0.0008894423 Mouse Phenotype increased kidney tumor incidence 617 1.676148e-10 2.597350247649919e-9 2.645316 57 0.002718947 1165 0.026177788207725323 1.565724 15 16 0.001334163 Mouse Phenotype increased incidence of corneal inflammation 669 5.828315e-10 8.329524621076233e-9 2.200289 77 0.003672963 765 0.003934226519607843 1.590577 20 21 0.001778885 Mouse Phenotype absent stapedial artery 855 2.533666e-8 2.8332608919298247e-7 2.040129 74 0.003529861 1311 0.038551797105263165 1.494305 17 19 0.001512052