# 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 ncRNA metabolic process 15 3.753483e-68 3.2928055197999995e-65 2.058516 701 0.06282488 37 6.677819068918919e-30 1.582031 371 555 0.04676078 GO Biological Process ncRNA processing 16 1.965038e-64 1.616120940125e-61 2.262463 538 0.04821653 42 5.397486558809524e-29 1.679365 281 396 0.03541719 GO Biological Process translation 17 3.307838e-61 2.5604611907058822e-58 2.204151 540 0.04839577 41 2.4020538094878049e-29 1.705006 268 372 0.03377867 GO Biological Process nuclear-transcribed mRNA catabolic process, nonsense-mediated decay 18 1.54826e-60 1.1318640744444444e-57 3.740446 227 0.02034415 79 2.244200822151899e-19 2.005635 100 118 0.01260398 GO Biological Process ribosome biogenesis 21 1.139633e-57 7.141157450952381e-55 2.295542 467 0.04185338 48 1.1341380227499999e-26 1.721866 235 323 0.02961936 GO Biological Process rRNA processing 26 8.226568e-57 4.1635926273846156e-54 2.568455 371 0.03324969 55 5.535790326181819e-24 1.774987 189 252 0.02382153 GO Biological Process rRNA metabolic process 29 1.042536e-55 4.730596973793104e-53 2.521564 376 0.0336978 56 6.438987728035713e-24 1.763565 193 259 0.02432569 GO Biological Process peptide biosynthetic process 31 1.316767e-53 5.589463533225806e-51 2.045634 560 0.05018821 43 1.3051647041860466e-28 1.678389 278 392 0.03503907 GO Biological Process multi-organism metabolic process 35 2.026228e-50 7.618038357714286e-48 2.956667 260 0.02330167 87 2.5825671896551728e-18 1.88366 117 147 0.01474666 GO Biological Process DNA replication-dependent nucleosome assembly 36 2.925376e-50 1.0693061884444445e-47 14.35734 64 0.005735795 329 0.0002936923612553192 1.922903 26 32 0.003277036 GO Biological Process nuclear-transcribed mRNA catabolic process 37 7.49662e-50 2.6661627724324327e-47 2.603253 317 0.02841011 97 2.3530340462886598e-17 1.745105 146 198 0.01840181 GO Biological Process translational initiation 38 2.204895e-49 7.635319290789473e-47 2.991376 250 0.02240545 119 6.057856229831933e-16 1.83705 111 143 0.01399042 GO Biological Process mRNA catabolic process 39 2.320614e-49 7.829989647692308e-47 2.502564 337 0.03020255 105 5.337751591619048e-17 1.711099 154 213 0.01941013 GO Biological Process protein targeting to ER 40 9.951413e-49 3.2737660916750002e-46 3.59316 191 0.01711776 90 8.854898719777778e-18 2.038599 87 101 0.01096547 GO Biological Process SRP-dependent cotranslational protein targeting to membrane 44 4.915846e-47 1.4701731253181817e-44 3.724682 176 0.01577344 107 6.70884682093458e-17 2.057956 80 92 0.01008319 GO Biological Process chromatin silencing 45 8.096828e-47 2.367692436711111e-44 4.016737 160 0.01433949 297 0.0000878003925117845 1.561501 64 97 0.008066549 GO Biological Process cotranslational protein targeting to membrane 46 9.894569e-47 2.830492031978261e-44 3.607291 182 0.01631117 91 8.904074947142857e-18 2.052707 85 98 0.01071339 GO Biological Process viral gene expression 48 1.304214e-45 3.57544833875e-43 3.163746 212 0.01899982 120 8.580943326416666e-16 1.882139 101 127 0.01273002 GO Biological Process negative regulation of gene expression, epigenetic 49 2.517075e-45 6.759630596938776e-43 3.293512 199 0.01783474 277 0.00004007583426137184 1.536246 74 114 0.009326947 GO Biological Process regulation of gene expression, epigenetic 51 8.331311e-45 2.1496415970392156e-42 2.235185 382 0.03423553 207 1.374249675942029e-7 1.440984 151 248 0.01903201 GO Cellular Component ribosomal subunit 24 1.75366e-62 1.2626352e-60 3.097149 302 0.02706578 27 1.8599353600000004e-23 1.880527 147 185 0.01852785 GO Cellular Component ribosome 25 1.029299e-58 7.114514688000001e-57 2.637998 366 0.03280158 25 1.4749095168e-23 1.785016 178 236 0.02243509 GO Cellular Component large ribosomal subunit 26 6.658214e-46 4.425151458461538e-44 3.349573 197 0.01765549 30 6.378192e-19 1.996218 97 115 0.01222586 GO Cellular Component nucleosome 28 2.393401e-45 1.4770703314285716e-43 3.990088 156 0.013981 55 3.9721850181818185e-8 1.690464 75 105 0.009452987 GO Cellular Component DNA packaging complex 37 3.038258e-38 1.418948601081081e-36 3.364189 162 0.01451873 54 1.14385696e-8 1.690464 80 112 0.01008319 GO Cellular Component cytosolic ribosome 39 2.269263e-36 1.0054580676923076e-34 2.751911 208 0.01864133 36 3.7169817599999996e-14 1.880641 89 112 0.01121754 GO Cellular Component nuclear nucleosome 41 8.052435e-34 3.3938067512195123e-32 6.536033 71 0.006363148 121 0.005096850247933885 1.656655 28 40 0.003529115 GO Cellular Component cytosolic part 42 3.203841e-31 1.3181517257142857e-29 2.005595 338 0.03029217 46 2.9027751652173913e-11 1.538322 156 240 0.01966221 GO Cellular Component cytosolic large ribosomal subunit 46 2.942267e-29 1.1052689947826086e-27 3.329066 124 0.0111131 44 2.190496843636364e-11 2.05627 53 61 0.006680111 GO Cellular Component protein-DNA complex 51 1.063094e-27 3.602012611764706e-26 2.057261 280 0.0250941 53 2.1440042626415095e-9 1.534808 131 202 0.01651122 GO Cellular Component small ribosomal subunit 61 3.372894e-21 9.554689888524589e-20 2.828703 112 0.01003764 69 0.000006065793391304348 1.709247 52 72 0.006554071 GO Cellular Component mitochondrial ribosome 65 1.388751e-19 3.69194112e-18 2.858931 101 0.009051801 61 2.570816136393443e-7 1.726262 62 85 0.007814469 GO Cellular Component mitochondrial large ribosomal subunit 67 1.949008e-19 5.026695259701492e-18 3.524158 74 0.006632013 59 1.3833565505084746e-7 1.949006 42 51 0.005293673 GO Cellular Component cytosolic small ribosomal subunit 72 9.287528e-17 2.22900672e-15 2.973277 80 0.007169744 78 0.000052742237538461534 1.828775 34 44 0.004285354 GO Cellular Component spliceosomal snRNP complex 98 1.327857e-10 2.3413641795918367e-9 2.333528 73 0.006542391 89 0.000279578362247191 1.641386 43 62 0.005419713 GO Cellular Component endopeptidase complex 102 2.649517e-10 4.4885935058823535e-9 2.131127 86 0.007707474 86 0.0002500791739534884 1.612066 47 69 0.005923872 GO Cellular Component preribosome 108 5.401071e-10 8.6417136e-9 2.050113 91 0.008155583 72 0.000027214368 1.650427 53 76 0.006680111 GO Cellular Component endoplasmic reticulum subcompartment 113 9.389886e-10 1.4359046909734513e-8 2.813389 47 0.004212224 157 0.041297207847133754 1.7212 16 22 0.002016637 GO Cellular Component proteasome complex 115 1.192185e-9 1.791387547826087e-8 2.082742 84 0.007528231 90 0.00038987404800000004 1.600969 46 68 0.005797832 GO Cellular Component small nuclear ribonucleoprotein complex 136 1.072491e-8 1.3626944470588233e-7 2.050054 77 0.006900878 86 0.0002500791739534884 1.612066 47 69 0.005923872 GO Molecular Function structural constituent of ribosome 7 2.262537e-57 1.3646330305714287e-54 3.095723 277 0.02482524 8 9.0745398675e-20 1.884555 129 162 0.01625914 GO Molecular Function rRNA binding 12 1.885587e-27 6.634123595e-25 4.069818 90 0.008065962 36 0.000030115713644444444 1.774987 45 60 0.005671792 GO Molecular Function chromatin DNA binding 16 9.013906e-24 2.37854444575e-21 2.224081 199 0.01783474 35 0.000025014348782857144 1.592937 70 104 0.008822788 GO Molecular Function ribonucleoprotein complex binding 36 3.04063e-14 3.5659832944444446e-12 2.009596 144 0.01290554 23 0.0000015546865179130435 1.625786 79 115 0.009957146 GO Molecular Function oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor 37 4.185046e-14 4.775476814054054e-12 2.644324 80 0.007169744 84 0.005282491007142858 1.591368 39 58 0.004915553 GO Molecular Function nucleosomal DNA binding 41 1.094863e-13 1.1274418502439026e-11 2.612451 79 0.007080122 80 0.00257840970375 1.697814 33 46 0.004159314 GO Molecular Function snRNA binding 56 1.468145e-12 1.1068764624999999e-10 3.237078 51 0.004570712 47 0.00007079077704680851 1.930688 31 38 0.003907235 GO Molecular Function protein phosphatase activator activity 81 8.685481e-10 4.527172936049383e-8 3.446888 35 0.003136763 110 0.03891958583636364 2.36665 8 8 0.001008319 GO Molecular Function NADH dehydrogenase activity 92 8.199493e-9 3.762854287608695e-7 2.478374 52 0.004660333 97 0.013342969408247423 1.611336 32 47 0.004033275 GO Molecular Function exonuclease activity, active with either ribo- or deoxyribonucleic acids and producing 5'-phosphomonoesters 107 2.344613e-8 9.251360828037383e-7 2.143011 66 0.005915039 103 0.024328783116504854 1.561989 33 50 0.004159314 GO Molecular Function translation initiation factor activity 113 4.078471e-8 0.0000015238322621238939 2.071265 69 0.006183904 86 0.0061813909255813955 1.624171 35 51 0.004411394 GO Molecular Function NADH dehydrogenase (ubiquinone) activity 128 1.890193e-7 0.0000062346834734375004 2.323792 48 0.004301846 108 0.03177957647962963 1.577767 30 45 0.003781195 GO Molecular Function cAMP response element binding 299 0.0002176293 0.0030730130588628763 2.111527 29 0.002599032 93 0.011609946146236559 2.1846 12 13 0.001512478 Human Phenotype Nail dystrophy 4 5.053123e-24 8.429872444749999e-21 2.683412 140 0.01254705 135 0.007584640545185185 1.531362 44 68 0.005545752 Human Phenotype Hypoalbuminemia 5 4.741561e-23 6.3280873106e-20 4.200653 72 0.006452769 186 0.02300958029032258 1.798654 19 25 0.002394757 Human Phenotype Focal segmental glomerulosclerosis 34 7.944109e-13 1.5591482163823529e-10 2.525893 78 0.0069905 128 0.005179515348671875 1.859511 22 28 0.002772876 Human Phenotype Glomerulosclerosis 39 3.012486e-12 5.154440789230769e-10 2.423978 80 0.007169744 211 0.04180324569194313 1.649483 23 33 0.002898916 Human Phenotype Dermal atrophy 50 5.959096e-11 7.9530095216e-9 2.087528 97 0.008693314 196 0.029937015212755103 1.560982 31 47 0.003907235 Human Phenotype Abnormal CSF metabolite level 54 1.835828e-10 2.2686074525925926e-8 2.285964 75 0.006721635 60 0.00007931074036 1.72803 46 63 0.005797832 Human Phenotype Increased CSF lactate 59 5.036945e-10 5.696870166949153e-8 2.322284 69 0.006183904 61 0.00008961024018852458 1.754585 43 58 0.005419713 Human Phenotype Exercise intolerance 62 1.254267e-9 1.349955434032258e-7 2.147032 78 0.0069905 101 0.0014791682325742573 1.589036 47 70 0.005923872 Human Phenotype Progressive macrocephaly 151 0.000003502653 0.00015478942694701988 2.53163 32 0.002867897 155 0.010993134641290323 1.873598 19 24 0.002394757 Human Phenotype Acute necrotizing encephalopathy 330 0.0003726745 0.0075359301166666665 2.174777 25 0.002240545 130 0.005521034876923077 2.011652 17 20 0.002142677 Human Phenotype Abnormal mitochondria in muscle tissue 338 0.0004249293 0.008389210706804734 2.11815 26 0.002330167 175 0.018454173873714286 1.852161 18 23 0.002268717 Mouse Phenotype Single KO decreased fibroblast proliferation 8 4.09651e-21 4.68896775875e-18 2.093445 201 0.01801398 76 0.002912429635 1.479156 65 104 0.008192589 Mouse Phenotype Single KO chromosome breakage 20 5.827726e-18 2.6682243491e-15 2.51096 115 0.01030651 125 0.0198929085448 1.563679 37 56 0.004663474 Mouse Phenotype Single KO interstitial pneumonia 66 1.822973e-12 2.5292369334848486e-10 3.79782 41 0.003674494 123 0.01903895150081301 2.1846 12 13 0.001512478 Mouse Phenotype Single KO absent segment of posterior cerebral artery 219 3.114638e-8 0.0000013023169025570776 2.562063 45 0.004032981 78 0.0030009660852564103 2.043925 19 22 0.002394757 Mouse Phenotype Single KO abnormal cerebral artery morphology 393 0.000003809579 0.00008876416005852418 2.116522 46 0.004122603 90 0.004520265549777778 1.972208 20 24 0.002520797 Mouse Phenotype tumor regression 1 2.332321e-39 2.2299321081000002e-35 13.65191 51 0.004570712 241 0.0402280463526971 2.36665 8 8 0.001008319 Mouse Phenotype decreased fibroblast proliferation 15 2.19554e-22 1.399437196e-19 2.043157 227 0.02034415 99 0.0014790171654545455 1.438195 79 130 0.009957146 Mouse Phenotype interstitial pneumonia 90 1.840106e-13 1.954805940666667e-11 2.960324 63 0.005646173 74 0.0003469520228513514 2.1515 20 22 0.002520797 Mouse Phenotype increased skin papilloma incidence 136 2.436305e-11 1.712758243014706e-9 2.228786 87 0.007797096 252 0.04581680522619047 1.577767 28 42 0.003529115 Mouse Phenotype absent segment of posterior cerebral artery 309 3.114638e-8 9.637234277669902e-7 2.562063 45 0.004032981 111 0.002201825085135135 2.043925 19 22 0.002394757 Mouse Phenotype decreased DN4 thymocyte number 310 3.133734e-8 9.66504218516129e-7 2.200853 61 0.00546693 255 0.04748078836470588 1.868408 15 19 0.001890597 Mouse Phenotype decreased type I pneumocyte number 347 1.071142e-7 0.000002951351199423631 2.152774 59 0.005287686 155 0.007145033994193547 2.197603 13 14 0.001638518 Mouse Phenotype abnormal cerebral artery morphology 523 0.000003809579 0.00006964318321032505 2.116522 46 0.004122603 127 0.003344666661732283 1.972208 20 24 0.002520797 Mouse Phenotype increased urinary bladder carcinoma incidence 662 0.00002818334 0.00040704065519637465 2.05916 40 0.003584872 247 0.04239223532793523 2.028557 12 14 0.001512478 Mouse Phenotype elevated level of mitotic sister chromatid exchange 1022 0.0008997263 0.008417106804598826 2.11399 23 0.002061301 212 0.025327003311792454 2.169429 11 12 0.001386438