# 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 13 2.213631e-112 2.2407054099230768e-109 2.380093 863 0.03645503 313 2.805064090543131e-7 1.268765 197 248 0.0167574 GO Biological Process RNA catabolic process 27 3.22482e-79 1.5716817177777776e-76 2.182686 728 0.03075233 72 6.478146457777778e-25 1.477932 223 241 0.01896904 GO Biological Process mRNA catabolic process 28 1.837946e-74 8.637689790714285e-72 2.247105 642 0.0271195 80 9.580567858e-23 1.484746 198 213 0.01684246 GO Biological Process nuclear-transcribed mRNA catabolic process 30 4.644053e-73 2.0370364475666666e-70 2.30694 596 0.02517636 94 4.2972660352127655e-21 1.484292 184 198 0.01565158 GO Biological Process gene silencing 31 1.821407e-72 7.731578939677418e-70 2.369277 560 0.02365564 751 0.008472370460186418 1.189047 134 180 0.01139843 GO Biological Process nuclear-transcribed mRNA catabolic process, nonsense-mediated decay 34 7.764203e-72 3.004974919911765e-69 2.943539 379 0.0160098 152 1.2103578942105263e-14 1.516012 112 118 0.00952705 GO Biological Process viral gene expression 42 7.205664e-68 2.2576031565714285e-65 2.771374 394 0.01664343 120 2.7510227331666668e-17 1.534344 122 127 0.01037768 GO Biological Process response to topologically incorrect protein 44 9.969817e-68 2.9816550432499998e-65 2.252879 580 0.02450049 145 4.965110319172414e-15 1.437504 162 180 0.0137802 GO Biological Process translational initiation 47 1.639013e-66 4.588887673829787e-64 2.537912 450 0.019009 155 1.9755810452258065e-14 1.474363 132 143 0.01122831 GO Biological Process rRNA processing 48 2.058544e-66 5.643412603333333e-64 2.121018 650 0.02745744 77 2.7258629245454545e-24 1.464125 231 252 0.01964954 GO Biological Process rRNA metabolic process 51 3.208414e-65 8.278337220784314e-63 2.089376 661 0.02792211 74 1.2282475453513514e-24 1.461555 237 259 0.02015992 GO Biological Process endoplasmic reticulum unfolded protein response 54 1.573856e-62 3.835253908148148e-60 2.601472 404 0.01706586 220 1.6164455786363636e-10 1.457119 104 114 0.008846546 GO Biological Process response to unfolded protein 56 1.059993e-61 2.490794265535714e-59 2.242007 533 0.0225151 146 8.229032024178081e-15 1.45747 146 160 0.01241919 GO Biological Process cellular response to topologically incorrect protein 57 3.314868e-61 7.6526926336842105e-59 2.393759 462 0.0195159 194 1.6348931523711343e-11 1.436355 125 139 0.01063287 GO Biological Process multi-organism metabolic process 58 1.587399e-60 3.60147990362069e-58 2.411985 450 0.019009 114 9.106800225526315e-18 1.510303 139 147 0.01182375 GO Biological Process viral transcription 60 5.705674e-59 1.2513494027666669e-56 2.702348 356 0.01503823 149 9.105365634228189e-15 1.526553 108 113 0.009186798 GO Biological Process regulation of transcription from RNA polymerase II promoter in response to stress 63 7.883062e-58 1.6465589342539683e-55 2.483677 406 0.01715034 466 0.00011265535676609443 1.314532 93 113 0.007910854 GO Biological Process regulation of DNA-templated transcription in response to stress 65 8.673995e-56 1.7560169262307692e-53 2.352506 435 0.01837536 439 0.00006233745026879272 1.315363 98 119 0.008336169 GO Biological Process cellular response to unfolded protein 68 2.821208e-55 5.459452363529412e-53 2.391441 417 0.017615 211 7.086801277725119e-11 1.452024 110 121 0.009356924 GO Biological Process cotranslational protein targeting to membrane 69 2.878592e-55 5.489766975072464e-53 2.84933 305 0.01288388 172 3.934092675930232e-13 1.532034 94 98 0.007995917 GO Cellular Component ribosomal subunit 29 1.527976e-68 9.104629406896551e-67 2.431399 503 0.02124784 41 1.6006295414634147e-18 1.467722 170 185 0.0144607 GO Cellular Component ribosome 35 1.722509e-52 8.504273005714286e-51 2.000975 589 0.02488067 36 2.18023632e-21 1.448333 214 236 0.01820347 GO Cellular Component chromosome, telomeric region 40 3.618131e-46 1.563032592e-44 2.166136 427 0.01803743 125 0.000046058775552 1.262479 132 167 0.01122831 GO Cellular Component large ribosomal subunit 46 1.844848e-39 6.930211617391304e-38 2.380196 297 0.01254594 56 8.751471428571429e-12 1.472227 106 115 0.009016672 GO Cellular Component ficolin-1-rich granule lumen 48 8.610185e-38 3.0996666e-36 2.131289 360 0.0152072 92 9.439164313043479e-7 1.352491 105 124 0.008931609 GO Cellular Component nuclear chromosome, telomeric region 51 2.02254e-36 6.852841411764707e-35 2.171114 332 0.01402442 162 0.0010902933333333331 1.246321 103 132 0.008761483 GO Cellular Component cytosolic ribosome 57 2.105814e-33 6.383941389473684e-32 2.082814 334 0.0141089 53 4.206776875471698e-12 1.483139 104 112 0.008846546 GO Cellular Component methyltransferase complex 61 5.636951e-32 1.596828086557377e-30 2.153491 295 0.01246145 79 5.844067564556962e-8 1.439259 82 91 0.006975162 GO Cellular Component small ribosomal subunit 64 4.669457e-31 1.2607533900000001e-29 2.499894 210 0.008870866 88 3.5328272727272723e-7 1.464125 66 72 0.005614154 GO Cellular Component mitochondrial ribosome 69 2.269395e-29 5.683354434782609e-28 2.548289 191 0.008068263 90 4.6036224e-7 1.428109 76 85 0.006464784 GO Cellular Component cytosolic large ribosomal subunit 79 1.425506e-25 3.1180688202531644e-24 2.378985 188 0.007941537 82 6.625897990243903e-8 1.518675 58 61 0.004933651 GO Cellular Component histone methyltransferase complex 80 4.721962e-25 1.019943792e-23 2.090487 244 0.0103071 108 0.0000050882832 1.435189 62 69 0.005273903 GO Cellular Component catalytic step 2 spliceosome 84 8.459935e-25 1.7403294857142854e-23 2.012644 265 0.01119419 78 4.933610584615384e-8 1.430849 86 96 0.007315413 GO Cellular Component PcG protein complex 90 2.029492e-23 3.89662464e-22 2.156614 211 0.008913108 173 0.002408008952601156 1.388893 40 46 0.003402518 GO Cellular Component cytoplasmic stress granule 98 5.498738e-21 9.695733942857143e-20 2.253287 170 0.007181177 145 0.00039412831779310346 1.448648 39 43 0.003317455 GO Cellular Component COPI-coated vesicle 102 4.608485e-20 7.807315764705882e-19 3.04978 94 0.003970768 179 0.0029710112178770944 1.527782 22 23 0.001871385 GO Cellular Component intrinsic component of mitochondrial membrane 105 3.22321e-19 5.304482742857143e-18 2.063218 189 0.007983779 115 0.000020482750330434783 1.425218 58 65 0.004933651 GO Cellular Component vesicle coat 108 1.511964e-18 2.4191424e-17 2.001957 196 0.008279475 258 0.03316434530232558 1.284045 41 51 0.003487581 GO Cellular Component cytosolic small ribosomal subunit 110 2.92095e-18 4.588546909090909e-17 2.347379 134 0.005660457 128 0.0000474950385 1.488325 41 44 0.003487581 GO Cellular Component integral component of mitochondrial membrane 111 6.217821e-18 9.679634854054054e-17 2.022641 184 0.007772568 121 0.000027893861553719004 1.42253 57 64 0.004848588 GO Molecular Function structural constituent of ribosome 8 6.29197e-53 3.3205871675e-50 2.29142 435 0.01837536 20 1.9478456652999996e-16 1.478914 150 162 0.01275944 GO Molecular Function unfolded protein binding 9 1.330636e-42 6.242161324444444e-40 2.516185 289 0.012208 57 0.000001962105614736842 1.386272 92 106 0.007825791 GO Molecular Function ribonucleoprotein complex binding 10 1.483873e-42 6.264911806e-40 2.289068 348 0.01470029 55 0.000001538644953818182 1.375004 99 115 0.008421232 GO Molecular Function nucleosome binding 12 8.137271e-33 2.8629631801666668e-30 2.35541 250 0.01056055 120 0.007031695261666666 1.331022 55 66 0.004678462 GO Molecular Function rRNA binding 13 4.4184e-31 1.4349603692307694e-28 3.111848 146 0.006167364 94 0.00036309590759574467 1.410884 53 60 0.004508336 GO Molecular Function protein binding involved in protein folding 32 2.855784e-18 3.767850015e-16 2.818857 96 0.004055253 138 0.013959342392753623 1.478914 25 27 0.002126574 GO Molecular Function snRNA binding 61 3.818886e-13 2.643169949508197e-11 2.4831 83 0.003506104 104 0.001551471736730769 1.47113 35 38 0.002977203 GO Molecular Function telomeric DNA binding 78 9.838883e-12 5.325610772564103e-10 2.116749 102 0.004308706 119 0.006395957470588235 1.456295 31 34 0.002636951 GO Molecular Function DNA-directed 5'-3' RNA polymerase activity 89 2.405238e-11 1.1410016669662922e-9 2.145996 95 0.004013011 151 0.01833035542913907 1.374358 37 43 0.003147329 GO Molecular Function 5'-3' RNA polymerase activity 91 2.758321e-11 1.2797396991208791e-9 2.121251 97 0.004097495 166 0.03043014130120482 1.348769 38 45 0.003232392 GO Molecular Function thyroid hormone receptor binding 132 2.546281e-9 8.144241198484848e-8 2.039697 85 0.003590588 102 0.0014685477801960785 1.540183 27 28 0.0022967 Human Phenotype Exercise intolerance 9 8.302036e-21 6.155498469777777e-18 2.231544 172 0.007265661 69 0.00002129063202463768 1.437504 63 70 0.005358966 Human Phenotype Abnormal CSF metabolite level 15 1.507475e-19 6.706253783333332e-17 2.255489 157 0.006632028 59 0.000010380629639661016 1.470463 58 63 0.004933651 Human Phenotype Increased CSF lactate 23 9.759751e-17 2.831600801e-14 2.205028 139 0.005871668 60 0.000010524325286499999 1.487073 54 58 0.004593399 Human Phenotype Slender long bone 36 4.698025e-14 8.708311340277777e-12 2.448548 92 0.003886284 275 0.041462212323636366 1.426095 25 28 0.002126574 Human Phenotype CNS hypomyelination 86 6.320446e-11 4.904225134651163e-9 2.27354 80 0.003379377 84 0.00006209062058214285 1.597227 30 30 0.002551888 Human Phenotype Increased muscle lipid content 179 2.994768e-8 0.0000011164294337430168 2.507364 47 0.001985384 274 0.04096608278832117 1.513162 18 19 0.001531133 Human Phenotype Large hands 186 4.087618e-8 0.0000014664878986021506 2.154495 63 0.00266126 240 0.024669427602083332 1.597227 15 15 0.001275944 Human Phenotype Abnormal mitochondria in muscle tissue 188 4.652893e-8 0.0000016515295206914892 2.227124 58 0.002450049 194 0.010586026561855671 1.527782 22 23 0.001871385 Human Phenotype Progressive macrocephaly 247 2.639596e-7 0.000007131183849392713 2.125485 57 0.002407806 183 0.007306161953005465 1.530676 23 24 0.001956448 Human Phenotype Acute necrotizing encephalopathy 283 7.777033e-7 0.000018337859084452296 2.132117 52 0.002196595 250 0.029454835536 1.517366 19 20 0.001616196 Mouse Phenotype Single KO abnormal cellular replicative senescence 22 2.951061e-27 1.2283120716818183e-24 2.340584 208 0.008786381 105 0.0029225891084761904 1.384263 52 60 0.004423273 Mouse Phenotype Single KO abnormal DNA repair 33 3.845125e-25 1.066963928030303e-22 2.069372 251 0.0106028 93 0.0017236930029032255 1.322435 77 93 0.006549847 Mouse Phenotype Single KO early cellular replicative senescence 48 3.036237e-22 5.792254626875e-20 2.271447 178 0.007519115 120 0.009547988638333333 1.382216 45 52 0.003827833 Mouse Phenotype Single KO increased incidence of tumors by ionizing radiation induction 77 3.240216e-19 3.853332196363636e-17 3.690364 69 0.002914713 178 0.04564386387921348 1.597227 15 15 0.001275944 Mouse Phenotype Single KO increased circulating interferon-gamma level 99 3.14294e-16 2.9070607656565657e-14 2.214848 133 0.005618215 125 0.011939826951200001 1.411503 38 43 0.003232392 Mouse Phenotype Single KO increased cellular sensitivity to ultraviolet irradiation 100 4.121562e-16 3.774114323400001e-14 2.66202 92 0.003886284 129 0.014222723384496126 1.530676 23 24 0.001956448 Mouse Phenotype Single KO abnormal tumor latency 172 2.655288e-11 1.4136321055813952e-9 2.151746 94 0.003970768 166 0.03984763981385542 1.521169 20 21 0.001701259 Mouse Phenotype abnormal embryonic erythrocyte morphology 10 1.290071e-39 1.2334368830999999e-36 2.649844 244 0.0103071 232 0.026968284103448273 1.392454 34 39 0.00289214 Mouse Phenotype abnormal DNA repair 11 7.323421e-39 6.365384380090909e-36 2.199773 345 0.01457356 64 0.0000041147466553125 1.361571 104 122 0.008846546 Mouse Phenotype abnormal cellular replicative senescence 20 1.885929e-33 9.015683584500001e-31 2.196015 296 0.0125037 96 0.000066240032190625 1.388066 73 84 0.006209595 Mouse Phenotype early cellular replicative senescence 27 1.408787e-31 4.9886712988888893e-29 2.238816 267 0.01127867 104 0.00015264605356730767 1.400309 64 73 0.005444029 Mouse Phenotype increased circulating interferon-gamma level 55 1.033802e-24 1.7971238039999998e-22 2.465355 169 0.007138935 191 0.006263396082722513 1.382216 45 52 0.003827833 Mouse Phenotype decreased cellular sensitivity to ultraviolet irradiation 86 1.949953e-19 2.1678489108139535e-17 3.528487 74 0.003125924 250 0.033932237586 1.597227 15 15 0.001275944 Mouse Phenotype pancytopenia 94 1.189412e-18 1.2097838438297873e-16 2.332105 139 0.005871668 155 0.001415201948516129 1.54215 28 29 0.002381763 Mouse Phenotype increased cellular sensitivity to ultraviolet irradiation 109 2.089086e-17 1.832454242752294e-15 2.579887 106 0.004477675 141 0.0010049214495744681 1.543986 29 30 0.002466825 Mouse Phenotype increased fibroblast apoptosis 114 1.496341e-16 1.254957570263158e-14 2.054208 162 0.006843239 220 0.02012500539681818 1.364298 41 48 0.003487581 Mouse Phenotype poikilocytosis 156 6.133028e-14 3.758838506923077e-12 2.215676 112 0.004731128 232 0.026968284103448273 1.392454 34 39 0.00289214 Mouse Phenotype pale placenta 387 3.69744e-8 9.134683162790698e-7 2.176045 62 0.002619017 250 0.033932237586 1.597227 15 15 0.001275944 Mouse Phenotype increased kidney tumor incidence 468 3.287952e-7 0.000006717117323076922 2.178208 53 0.002238837 226 0.023489299809292034 1.597227 16 16 0.001361007