# 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 5 3.683709e-38 9.6947853462e-35 2.002796 411 0.06112433 32 3.80588669065625e-14 1.518733 271 555 0.04488985 GO Biological Process ncRNA processing 12 4.07098e-30 4.4641688183333344e-27 2.072594 297 0.04417014 55 3.9367804225454546e-11 1.547306 197 396 0.0326321 GO Biological Process rRNA processing 14 4.405378e-29 4.1407406501428567e-26 2.40106 209 0.03108269 57 4.654185932631579e-11 1.690928 137 252 0.02269339 GO Biological Process rRNA metabolic process 19 2.195491e-27 1.5205508457368424e-24 2.325879 209 0.03108269 79 5.084454373417722e-10 1.645227 137 259 0.02269339 GO Biological Process ribosome biogenesis 23 5.701884e-24 3.262221372e-21 2.02292 248 0.03688281 75 3.6972315939999995e-10 1.579234 164 323 0.02716581 GO Biological Process mitochondrial transport 28 5.526841e-23 2.5974178828214284e-20 2.099377 217 0.03227246 169 0.000013685258776923077 1.496597 115 239 0.0190492 GO Biological Process multi-organism metabolic process 31 2.08435e-21 8.84772956451613e-19 2.547543 135 0.02007733 97 1.5561616344329895e-8 1.798484 85 147 0.01407984 GO Biological Process nuclear-transcribed mRNA catabolic process, nonsense-mediated decay 35 5.96701e-21 2.243425274e-18 2.898425 106 0.01576443 123 3.5081637239024394e-7 1.818746 69 118 0.01142952 GO Biological Process translational elongation 36 1.131043e-20 4.1342763436111115e-18 2.889326 105 0.0156157 126 4.825861687539683e-7 1.832867 66 112 0.01093258 GO Biological Process mRNA catabolic process 37 1.311916e-20 4.665811525405406e-18 2.181159 177 0.02632362 143 0.0000026249425966433567 1.562461 107 213 0.01772404 GO Biological Process regulation of transcription from RNA polymerase II promoter in response to stress 39 1.623023e-20 5.476246065897436e-18 2.627571 122 0.01814396 354 0.013830666584745762 1.486347 54 113 0.00894484 GO Biological Process mitochondrial translation 43 5.486892e-20 1.6791165541395348e-17 2.949731 98 0.01457466 137 0.000001034793984160584 1.83131 63 107 0.01043565 GO Biological Process nuclear-transcribed mRNA catabolic process 45 8.173803e-20 2.3902016372666667e-17 2.22128 163 0.02424152 165 0.000009893933093939395 1.55516 99 198 0.01639887 GO Biological Process RNA catabolic process 48 5.988023e-19 1.6415915553541668e-16 2.026687 192 0.02855443 168 0.00001193343496845238 1.497083 116 241 0.01921484 GO Biological Process macromolecular complex disassembly 50 1.003904e-18 2.6420745472e-16 2.126483 169 0.02513385 142 0.0000025907272395774646 1.595871 98 191 0.01623323 GO Biological Process mitochondrial translational termination 54 2.159476e-18 5.26232308962963e-16 3.180267 80 0.01189768 180 0.000023408852143333334 1.823291 51 87 0.008447905 GO Biological Process endoplasmic reticulum unfolded protein response 55 2.423828e-18 5.799118664e-16 2.56178 113 0.01680547 477 0.0490590693081761 1.418742 52 114 0.00861355 GO Biological Process mitochondrial translational elongation 56 2.832292e-18 6.6553804335714295e-16 3.192581 79 0.01174896 181 0.000026129571844198896 1.8296 50 85 0.008282259 GO Biological Process mitochondrial respiratory chain complex assembly 57 3.815044e-18 8.807397192280702e-16 2.911434 90 0.01338489 138 0.0000011524451954347828 1.886045 57 94 0.009441776 GO Biological Process response to unfolded protein 58 5.305475e-18 1.203702509051724e-15 2.20659 149 0.02215943 291 0.0030982146503092784 1.457962 75 160 0.01242339 GO Cellular Component ribosomal subunit 34 2.966456e-21 1.507657637647059e-19 2.450622 144 0.02141582 41 2.2388111297560974e-8 1.681254 100 185 0.01656452 GO Cellular Component ribosome 35 4.956672e-20 2.4471797759999998e-18 2.140942 179 0.02662106 37 1.1215308454054055e-9 1.647415 125 236 0.02070565 GO Cellular Component mitochondrial ribosome 41 5.303528e-17 2.235243020487805e-15 3.288054 70 0.01041047 51 0.00003670305882352941 1.793008 49 85 0.008116614 GO Cellular Component large ribosomal subunit 42 7.617753e-17 3.134161234285714e-15 2.680436 95 0.01412849 45 0.00000607936512 1.730961 64 115 0.01060129 GO Cellular Component catalytic step 2 spliceosome 44 1.128003e-12 4.4299754181818174e-11 2.35304 88 0.01308745 67 0.00042247588298507455 1.652357 51 96 0.008447905 GO Cellular Component mitochondrial large ribosomal subunit 47 1.719131e-11 6.320549719148937e-10 3.398214 43 0.006395003 83 0.0016114157956626505 1.8296 30 51 0.004969356 GO Cellular Component endopeptidase complex 48 1.077033e-10 3.8773188000000005e-9 2.549537 62 0.009220702 112 0.015747541714285714 1.577698 35 69 0.005797582 GO Cellular Component nuclear ubiquitin ligase complex 52 1.872252e-10 6.221637415384616e-9 3.247182 41 0.006097561 110 0.012856382836363636 1.788434 23 40 0.003809839 GO Cellular Component proteasome complex 55 6.958837e-10 2.186340061090909e-8 2.468688 60 0.00892326 123 0.02312949073170732 1.55516 34 68 0.005631936 GO Cellular Component preribosome 66 8.850118e-9 2.3171218036363632e-7 2.280472 61 0.009071981 98 0.00706132212244898 1.596085 39 76 0.006460162 GO Cellular Component peptidase complex 73 3.306881e-8 7.827795024657535e-7 2.080959 69 0.01026175 122 0.02316206950819672 1.484471 42 88 0.006957098 GO Cellular Component cytosolic large ribosomal subunit 83 3.535932e-7 0.000007361554814457832 2.22756 50 0.00743605 95 0.0057391336421052635 1.682632 33 61 0.005466291 GO Cellular Component small ribosomal subunit 85 3.975037e-7 0.000008081016395294117 2.179372 52 0.007733492 102 0.009125059764705883 1.598359 37 72 0.006128872 GO Cellular Component spliceosomal snRNP complex 95 0.000001233288 0.000022432859621052632 2.280958 43 0.006395003 129 0.03469849451162791 1.55516 31 62 0.005135001 GO Cellular Component mitochondrial nucleoid 107 0.000003859797 0.00006233391790654206 2.402113 35 0.005205235 92 0.004394140591304348 1.851381 25 42 0.00414113 GO Cellular Component Bcl-2 family protein complex 108 0.000004049838 0.000064797408 4.301152 15 0.002230815 97 0.006311190432989691 3.11032 7 7 0.001159516 GO Cellular Component small nuclear ribonucleoprotein complex 111 0.000004818619 0.00007501417686486487 2.076496 47 0.006989887 128 0.0304315515 1.532621 34 69 0.005631936 GO Cellular Component U2 snRNP 124 0.00001415972 0.00019732254967741938 3.343807 18 0.002676978 117 0.018900007384615385 2.128113 13 19 0.002153387 GO Cellular Component anaphase-promoting complex 125 0.00001419938 0.00019629222912 3.214686 19 0.002825699 116 0.018202156137931035 2.073546 14 21 0.002319033 GO Cellular Component proteasome accessory complex 145 0.00003626328 0.00043215826096551724 2.810186 21 0.003123141 127 0.0292444542992126 1.94395 15 24 0.002484678 GO Molecular Function structural constituent of ribosome 6 2.238443e-20 1.5751177243333332e-17 2.485111 134 0.01992861 10 3.2778138744e-8 1.766354 92 162 0.01523936 GO Molecular Function ribonucleoprotein complex binding 10 2.586555e-15 1.092043521e-12 2.408454 104 0.01546698 63 0.0215604874 1.487544 55 115 0.009110485 GO Molecular Function heat shock protein binding 12 4.783827e-12 1.6831097995e-9 2.07097 110 0.01635931 34 0.0006832458874705882 1.658837 56 105 0.009276131 GO Molecular Function protein N-terminus binding 14 1.059077e-11 3.193873638571428e-9 2.006628 115 0.01710291 44 0.006838674697272728 1.569971 53 105 0.008779195 GO Molecular Function NF-kappaB binding 18 3.586541e-11 8.412431167777778e-9 3.436399 41 0.006097561 32 0.0005333651280625 2.33274 21 28 0.003478549 GO Molecular Function protein transporter activity 19 3.867259e-11 8.593456577894738e-9 2.140275 93 0.01383105 46 0.008433894734782609 1.587559 49 96 0.008116614 GO Molecular Function endoribonuclease activity 21 5.827955e-11 1.1716964766666668e-8 2.718465 57 0.008477097 77 0.03972257185454546 1.666243 30 56 0.004969356 GO Molecular Function NADH dehydrogenase activity 43 5.852777e-8 0.0000057466103474418595 2.847244 36 0.005353956 60 0.021183202443333334 1.786779 27 47 0.00447242 GO Molecular Function disordered domain specific binding 44 7.047622e-8 0.000006762513655454546 2.457386 46 0.006841166 80 0.041771449442500004 1.906325 19 31 0.003147259 GO Molecular Function NADH dehydrogenase (ubiquinone) activity 62 9.41906e-7 0.00006414076019354839 2.651115 33 0.004907793 86 0.048262835686046515 1.727955 25 45 0.00414113 GO Molecular Function protein phosphatase activator activity 90 0.000006770605 0.00031761660344444443 3.268494 20 0.00297442 49 0.009806508330612244 3.11032 8 8 0.001325162 GO Molecular Function phosphatase activator activity 255 0.001232575 0.020407575098039216 2.100883 22 0.003271862 45 0.008580486939555557 2.827563 10 11 0.001656452 GO Molecular Function G-rich strand telomeric DNA binding 280 0.001942973 0.029297257164285717 2.610359 13 0.001933373 58 0.018919764706896554 2.799288 9 10 0.001490807 Human Phenotype Abnormality of mitochondrial metabolism 1 4.46111e-18 2.9768987029999997e-14 3.013255 85 0.01264128 22 0.0008437935703636364 1.848161 41 69 0.006791453 Human Phenotype Abnormality of the mitochondrion 2 5.554641e-18 1.85330596965e-14 2.978887 86 0.01279001 20 0.0008292116701 1.839907 42 71 0.006957098 Human Phenotype Abnormal CSF metabolite level 3 1.661029e-17 3.6946821723333336e-14 3.439344 68 0.01011303 17 0.00044592950547058826 1.925436 39 63 0.006460162 Human Phenotype Increased CSF lactate 4 3.107898e-16 5.1847508385e-13 3.462714 62 0.009220702 29 0.0020950339104827587 1.876917 35 58 0.005797582 Human Phenotype Increased serum lactate 6 3.720883e-15 4.138242043166667e-12 2.554446 92 0.01368233 9 0.00018546520991111112 1.772882 57 100 0.009441776 Human Phenotype Abnormal CNS myelination 16 1.363437e-11 5.686384438125e-9 2.056784 107 0.01591315 47 0.010796161512765958 1.517836 61 125 0.01010436 Human Phenotype Hepatic failure 24 4.616108e-10 1.2834703618333332e-7 2.248413 74 0.01100535 28 0.0017468924966071429 1.856159 37 62 0.006128872 Human Phenotype Decreased activity of mitochondrial respiratory chain 31 5.405392e-9 0.0000011635542198709678 4.179536 25 0.003718025 58 0.022151805851724136 2.488256 12 15 0.001987742 Human Phenotype Abnormal activity of mitochondrial respiratory chain 33 1.081413e-8 0.000002186748166363636 3.898464 26 0.003866746 46 0.010951695685652175 2.527135 13 16 0.002153387 Human Phenotype Glycosuria 99 0.00001132105 0.0007630845116161616 2.383393 32 0.004759072 63 0.024333613511111112 2.037796 19 29 0.003147259 Human Phenotype Microretrognathia 100 0.00001233616 0.0008231919567999999 2.715407 25 0.003718025 84 0.04501378600238096 2.120673 15 22 0.002484678 Human Phenotype Papillary thyroid carcinoma 101 0.00001271072 0.0008397884609900989 2.592786 27 0.004015467 36 0.005918958414444444 2.851126 11 12 0.001822097 Human Phenotype Non-medullary thyroid carcinoma 165 0.0001655945 0.006697043021212121 2.746253 18 0.002676978 68 0.025505727051470587 2.799288 9 10 0.001490807 Mouse Phenotype Single KO absent hypoglossal nerve 29 1.071183e-11 3.382352665862069e-9 4.863894 29 0.004312909 79 0.022317324488607595 2.488256 12 15 0.001987742 Mouse Phenotype Single KO abnormal adrenal chromaffin cell morphology 91 6.23333e-7 0.00006272373935164835 3.06746 27 0.004015467 60 0.013957517569666669 2.827563 10 11 0.001656452 Mouse Phenotype Single KO increased embryonic neuroepithelium apoptosis 145 0.000006552018 0.0004137712332827586 2.693727 27 0.004015467 82 0.02522036573902439 2.37848 13 17 0.002153387 Mouse Phenotype Single KO abnormal neuroendocrine cell morphology 203 0.0000398564 0.0017978574128078818 2.141248 35 0.005205235 82 0.02522036573902439 2.37848 13 17 0.002153387 Mouse Phenotype Single KO increased hemangiosarcoma incidence 326 0.0004771766 0.013403393025153374 2.067288 27 0.004015467 102 0.048740816757843135 2.073546 16 24 0.002650323 Mouse Phenotype extramedullary hematopoiesis 4 9.797614e-22 2.34187468635e-18 2.063396 213 0.03167757 107 0.010324030348598131 1.42186 80 175 0.01325162 Mouse Phenotype early cellular replicative senescence 31 3.998875e-12 1.2333304475806452e-9 2.39121 81 0.0120464 88 0.005637766421931818 1.704285 40 73 0.006625808 Mouse Phenotype absent hypoglossal nerve 38 1.071183e-11 2.6951528060526313e-9 4.863894 29 0.004312909 119 0.015469360552941177 2.488256 12 15 0.001987742 Mouse Phenotype abnormal cellular replicative senescence 48 2.314511e-10 4.610216598125e-8 2.167941 83 0.01234384 153 0.031127047809803927 1.55516 42 84 0.006957098 Mouse Phenotype increased B cell derived lymphoma incidence 60 1.788525e-9 2.8500145875e-7 2.013628 89 0.01323617 139 0.02375848657769784 1.595036 40 78 0.006625808 Mouse Phenotype abnormal adrenal chromaffin cell morphology 126 7.083126e-7 0.00005374743467142857 2.907462 29 0.004312909 76 0.0025324170378947367 2.69561 13 15 0.002153387 Mouse Phenotype abnormal neuroendocrine cell morphology 218 0.00001786742 0.0007836257000917431 2.059305 42 0.006246282 55 0.0005123866800545454 2.462336 19 24 0.003147259 Mouse Phenotype abnormal adrenal medulla morphology 266 0.00006688225 0.0024039894445488726 2.110267 34 0.005056514 157 0.03115297777834395 2.033671 17 26 0.002815968