# 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 processing 27 1.202426e-40 5.860268049629629e-38 2.027245 431 0.04320369 102 6.622865355490197e-16 1.50672 251 396 0.03177617 GO Biological Process rRNA processing 30 1.257082e-33 5.513980679333333e-31 2.222337 287 0.02876905 150 3.620750608733333e-12 1.556458 165 252 0.02088872 GO Biological Process mRNA catabolic process 32 1.131666e-32 4.653622779375e-30 2.250891 271 0.0271652 101 4.302817112376238e-16 1.69636 152 213 0.01924294 GO Biological Process rRNA metabolic process 33 1.815992e-32 7.241405675151515e-30 2.175254 290 0.02906977 153 7.291297832091504e-12 1.541926 168 259 0.02126852 GO Biological Process nuclear-transcribed mRNA catabolic process 38 4.087289e-31 1.415385156605263e-28 2.287106 249 0.0249599 107 2.5538433784112147e-15 1.704815 142 198 0.01797696 GO Biological Process RNA catabolic process 46 3.060497e-28 8.755017396304347e-26 2.049034 288 0.02886929 115 8.964978395391304e-15 1.6275 165 241 0.02088872 GO Biological Process multi-organism metabolic process 65 1.383359e-25 2.8005570893846155e-23 2.378486 187 0.01874499 141 8.775784696382979e-13 1.746468 108 147 0.01367262 GO Biological Process DNA replication-dependent nucleosome assembly 68 2.497661e-25 4.8333413380882354e-23 9.785625 39 0.003909383 675 0.012053148831703704 1.708567 23 32 0.002911761 GO Biological Process chromatin silencing 70 3.540112e-25 6.654904829714285e-23 3.172939 113 0.01132719 548 0.003523718460766423 1.445887 59 97 0.0074693 GO Biological Process nuclear-transcribed mRNA catabolic process, nonsense-mediated decay 72 1.12015e-24 2.0472297013888892e-22 2.672363 145 0.01453488 184 9.451415991847826e-9 1.692199 84 118 0.01063426 GO Biological Process viral gene expression 73 4.572595e-24 8.242572274657534e-22 2.553802 153 0.01533681 151 5.126928534503311e-12 1.778173 95 127 0.01202684 GO Biological Process negative regulation of gene expression, epigenetic 76 1.473067e-23 2.550537980657895e-21 2.6286 142 0.01423416 325 0.00007125136922769231 1.522201 73 114 0.009241676 GO Biological Process gene silencing 84 1.052458e-21 1.648725574047619e-19 2.088277 208 0.02085004 301 0.000037743072232558145 1.426282 108 180 0.01367262 GO Biological Process telomere organization 85 1.694719e-21 2.6236243907058825e-19 2.445075 147 0.01473536 219 4.5078882438812786e-7 1.625392 80 117 0.01012786 GO Biological Process viral transcription 88 2.79293e-21 4.1763824852272724e-19 2.503819 139 0.01393344 159 6.003759817987421e-11 1.788111 85 113 0.01076086 GO Biological Process translational elongation 89 4.016521e-21 5.938584251573034e-19 2.52242 136 0.01363272 239 0.0000016277000273640167 1.613057 76 112 0.009621471 GO Biological Process SRP-dependent cotranslational protein targeting to membrane 90 6.149672e-21 8.99150376088889e-19 2.745772 116 0.01162791 209 1.2965184929665072e-7 1.731175 67 92 0.008482086 GO Biological Process interferon-gamma-mediated signaling pathway 92 1.734879e-20 2.4814426914130436e-18 2.694169 117 0.01172815 366 0.00015979556147540985 1.671424 45 64 0.005696924 GO Biological Process cotranslational protein targeting to membrane 98 1.075036e-19 1.4435100738775508e-17 2.615904 118 0.01182839 243 0.0000021507167074074073 1.649442 68 98 0.008608685 GO Biological Process protein targeting to ER 99 1.097123e-19 1.458287025959596e-17 2.567042 122 0.01222935 222 4.967044745315316e-7 1.671056 71 101 0.00898848 GO Cellular Component ribosomal subunit 22 5.358772e-37 4.209071825454545e-35 2.626761 229 0.02295509 36 7.4258928e-15 1.708968 133 185 0.01683757 GO Cellular Component large ribosomal subunit 26 3.807352e-29 2.5304247138461534e-27 2.890658 152 0.01523657 47 3.437007074042553e-11 1.777685 86 115 0.01088745 GO Cellular Component nuclear nucleosome 29 8.239052e-27 4.909338571034484e-25 6.074881 59 0.005914194 127 0.0044459072503937 1.663995 28 40 0.003544753 GO Cellular Component ribosome 30 1.184888e-26 6.82495488e-25 2.087964 259 0.02596231 46 1.6524646121739132e-11 1.551182 154 236 0.01949614 GO Cellular Component DNA packaging complex 34 7.70904e-26 3.918006211764706e-24 2.973071 128 0.01283079 61 0.0000024325837849180328 1.591832 75 112 0.009494873 GO Cellular Component nucleosome 35 8.191483e-26 4.044252178285714e-24 3.232706 113 0.01132719 69 0.000020613314504347825 1.562118 69 105 0.008735283 GO Cellular Component chromosome, telomeric region 36 1.815843e-24 8.7160464e-23 2.29926 191 0.01914595 51 2.0803300517647058e-10 1.622716 114 167 0.01443221 GO Cellular Component nuclear chromosome, telomeric region 40 1.049997e-22 4.535987040000001e-21 2.436357 157 0.01573777 49 1.0285916473469387e-10 1.710818 95 132 0.01202684 GO Cellular Component mitochondrial ribosome 46 2.075365e-20 7.796153739130435e-19 3.039369 96 0.009623095 77 0.00006248771158441558 1.59408 57 85 0.007216103 GO Cellular Component mitochondrial large ribosomal subunit 50 1.814346e-17 6.270379776e-16 3.515584 66 0.006615878 76 0.00005834989894736842 1.7712 38 51 0.004810736 GO Cellular Component intrinsic component of mitochondrial membrane 53 2.959379e-16 9.648692286792454e-15 2.564574 99 0.009923817 134 0.006510566256716418 1.499424 41 65 0.00519053 GO Cellular Component integral component of mitochondrial membrane 54 5.050195e-16 1.6160624e-14 2.556371 98 0.009823577 140 0.00950201033142857 1.48571 40 64 0.005063932 GO Cellular Component cytosolic ribosome 55 7.501235e-16 2.3567516509090912e-14 2.116104 143 0.0143344 54 3.03143232e-8 1.67673 79 112 0.01000127 GO Cellular Component cytosolic large ribosomal subunit 57 6.461584e-15 1.9588802021052632e-13 2.612461 87 0.00872093 62 0.0000033953165419354836 1.792595 46 61 0.005823522 GO Cellular Component small ribosomal subunit 72 7.84567e-11 1.8829608e-9 2.2599 80 0.008019246 84 0.00015069383999999998 1.617773 49 72 0.006203317 GO Cellular Component spliceosomal snRNP complex 75 1.050021e-10 2.4192483840000003e-9 2.431247 68 0.006816359 124 0.004136186787096774 1.533636 40 62 0.005063932 GO Cellular Component integral component of lumenal side of endoplasmic reticulum membrane 77 3.340669e-10 7.49698185974026e-9 3.845977 32 0.003207698 143 0.010322258752447551 1.836878 17 22 0.002152171 GO Cellular Component small nuclear ribonucleoprotein complex 86 1.194224e-8 2.3995570604651166e-7 2.114281 71 0.007117081 152 0.014137597894736842 1.446953 42 69 0.005317129 GO Cellular Component mitochondrial nucleoid 90 5.092027e-8 9.77669184e-7 2.359211 51 0.005112269 110 0.001749793221818182 1.697955 30 42 0.003797949 GO Cellular Component cytosolic small ribosomal subunit 126 0.000005167719 0.00007087157485714286 2.036908 49 0.004911788 130 0.0055070482707692305 1.620775 30 44 0.003797949 GO Molecular Function structural constituent of ribosome 7 4.635755e-27 2.7960225157142857e-24 2.412513 193 0.01934643 12 8.732176128333333e-11 1.6728 114 162 0.01443221 GO Molecular Function rRNA binding 9 3.17381e-23 1.4888695355555555e-20 3.945091 78 0.007818765 37 0.00002513551724864865 1.782852 45 60 0.005696924 GO Molecular Function unfolded protein binding 10 6.553351e-23 2.7668247922e-20 2.70653 131 0.01313152 68 0.0005510117298823529 1.50253 67 106 0.008482086 GO Molecular Function nucleosomal DNA binding 14 7.040031e-14 2.123072205857143e-11 2.73705 74 0.007417803 89 0.0020825797730337076 1.705337 33 46 0.004177744 GO Molecular Function nucleosome binding 18 7.942587e-12 1.862977906333333e-9 2.168678 97 0.009723336 114 0.012163837542105262 1.512723 42 66 0.005317129 GO Molecular Function 5S rRNA binding 43 5.293494e-8 0.000005197472480930233 4.508646 20 0.002004812 134 0.03704363895522388 2.161033 10 11 0.001265983 GO Molecular Function RNA polymerase core enzyme binding 71 0.000001724313 0.00010253590825352113 2.024323 55 0.005513232 82 0.0013281104209756098 1.833791 27 35 0.003418154 GO Molecular Function telomeric DNA binding 91 0.000007575707 0.00035147950498901103 2.117554 43 0.004310345 91 0.0022173354775824176 1.81781 26 34 0.003291556 GO Molecular Function cyclin-dependent protein serine/threonine kinase regulator activity 120 0.00002870433 0.0010099140105 2.016996 42 0.004210104 107 0.00902277306728972 1.803345 22 29 0.002785163 GO Molecular Function NF-kappaB binding 146 0.00008652217 0.002502031518767123 2.033731 36 0.003608661 99 0.0039125448850505055 1.86775 22 28 0.002785163 Human Phenotype Increased serum lactate 1 3.004402e-18 2.0048374546e-14 2.395467 128 0.01283079 9 1.5450085873333334e-8 1.782852 75 100 0.009494873 Human Phenotype Exercise intolerance 3 5.471133e-13 1.2169623502999998e-9 2.493784 81 0.008119487 79 0.0016474116569620255 1.596077 47 70 0.00595012 Human Phenotype Increased CSF lactate 4 6.520709e-13 1.087817278925e-9 2.672727 71 0.007117081 29 0.00000858694986 1.84433 45 58 0.005696924 Human Phenotype Abnormal CSF metabolite level 7 3.13245e-12 2.986119835714286e-9 2.522724 74 0.007417803 36 0.00002893852105833333 1.773419 47 63 0.00595012 Human Phenotype Mitochondrial inheritance 10 5.803901e-11 3.8729431373e-8 2.693499 58 0.005813953 160 0.0421846206875 1.512723 35 55 0.004430941 Human Phenotype Cytochrome C oxidase-negative muscle fibers 12 8.218992e-11 4.570444468e-8 4.316828 30 0.003007217 123 0.02247185374471545 1.980947 15 18 0.001898975 Human Phenotype Increased muscle lipid content 18 3.890169e-10 1.4421720965e-7 3.924444 31 0.003107458 82 0.0020310797269512196 2.126911 17 19 0.002152171 Human Phenotype Increased intramyocellular lipid droplets 19 6.67845e-10 2.345541939473684e-7 3.941619 30 0.003007217 67 0.0009759473645671642 2.237305 16 17 0.002025573 Human Phenotype Leukodystrophy 28 4.440988e-8 0.000010583826044285715 2.132667 64 0.006415397 105 0.011895677469523809 1.616453 34 50 0.004304342 Human Phenotype Progressive macrocephaly 101 0.00001988019 0.001313470374950495 2.47764 28 0.002806736 164 0.04472240531097561 1.782852 18 24 0.002278769 Human Phenotype Abnormal mitochondria in muscle tissue 110 0.00003106629 0.0018845941197272727 2.460238 27 0.002706496 98 0.005597072035816326 1.963721 19 23 0.002405368 Human Phenotype Reticulocytopenia 119 0.00005221447 0.0029279593135294116 2.597312 23 0.002305533 168 0.04669948113095238 2.161033 10 11 0.001265983 Human Phenotype Acute necrotizing encephalopathy 159 0.0001770344 0.007429877680503145 2.335156 24 0.002405774 136 0.030550583744117645 1.901709 16 20 0.002025573 Human Phenotype Basal cell carcinoma 172 0.000243699 0.009454671087209304 2.066884 30 0.003007217 151 0.03774950127880795 1.836878 17 22 0.002152171 Mouse Phenotype Single KO increased integument system tumor incidence 54 9.273224e-18 1.5724983734814813e-15 2.438364 120 0.01202887 224 0.0067649299714285715 1.501349 48 76 0.006076719 Mouse Phenotype Single KO abnormal cell cycle checkpoint function 71 8.415479e-15 1.085359735253521e-12 2.438543 98 0.009823577 195 0.0031867374313846158 1.64571 36 52 0.004557539 Mouse Phenotype Single KO spleen hyperplasia 83 7.15638e-14 7.895297790361446e-12 2.024879 137 0.01373296 116 0.00008664684946551724 1.64571 54 78 0.006836308 Mouse Phenotype Single KO abnormal lymph node cortex morphology 94 3.649919e-13 3.555564710957446e-11 2.251373 101 0.0101243 321 0.038794215292834895 1.535234 31 48 0.003924547 Mouse Phenotype Single KO decreased T cell apoptosis 104 1.865538e-12 1.6425703332692307e-10 2.447713 80 0.008019246 169 0.0013598453845562128 1.901709 24 30 0.003038359 Mouse Phenotype Single KO increased circulating interleukin-4 level 105 2.110807e-12 1.840824733238095e-10 7.220669 22 0.002205293 308 0.03495446905844156 2.161033 10 11 0.001265983 Mouse Phenotype Single KO abnormal lymph node B cell domain morphology 107 2.528667e-12 2.1640190391588784e-10 2.247593 94 0.009422614 281 0.022228174314234878 1.603185 29 43 0.003671351 Mouse Phenotype Single KO decreased marginal zone B cell number 109 3.158182e-12 2.65316262146789e-10 2.186076 99 0.009923817 118 0.00009786326465254238 1.751574 42 57 0.005317129 Mouse Phenotype Single KO abnormal B cell apoptosis 147 1.219416e-10 7.596049191836735e-9 2.075798 95 0.009522855 332 0.04591443915963856 1.584758 26 39 0.003291556 Mouse Phenotype Single KO abnormal mortality induced by ionizing radiation 152 2.044994e-10 1.2319743459210526e-8 2.164632 84 0.008420209 165 0.001155176083878788 1.743233 33 45 0.004177744 Mouse Phenotype Single KO abnormal splenocyte morphology 167 1.2062e-9 6.61387628742515e-8 2.04235 88 0.008821171 227 0.006771553092951542 1.634281 33 48 0.004177744 Mouse Phenotype Single KO abnormal response to radiation 168 1.273599e-9 6.941872644642856e-8 2.049406 87 0.00872093 170 0.0013592570002941176 1.719631 34 47 0.004304342 Mouse Phenotype Single KO increased mortality induced by ionizing radiation 174 2.156971e-9 1.1351369797126436e-7 2.143168 76 0.007618284 189 0.002580624771005291 1.739368 30 41 0.003797949 Mouse Phenotype Single KO increased mortality induced by gamma-irradiation 203 6.842984e-9 3.0867588417733993e-7 2.443202 54 0.005412991 268 0.01764691938358209 1.743233 22 30 0.002785163 Mouse Phenotype Single KO increased mammary gland tumor incidence 211 1.113701e-8 4.833251211848342e-7 2.342578 57 0.005713713 293 0.02884034028020478 1.626462 26 38 0.003291556 Mouse Phenotype Single KO decreased cytotoxic T cell cytolysis 214 1.34753e-8 5.766043088785047e-7 2.290797 59 0.005914194 232 0.007856808621551723 1.747894 25 34 0.003164958 Mouse Phenotype Single KO abnormal mononuclear cell differentiation 215 1.381482e-8 5.883828220465116e-7 3.023635 36 0.003608661 244 0.009126932014754098 2.19428 12 13 0.00151918 Mouse Phenotype Single KO increased fibroblast apoptosis 230 3.474414e-8 0.0000013832699564347827 2.227316 59 0.005914194 323 0.039160094773993806 1.630036 24 35 0.003038359 Mouse Phenotype Single KO decreased splenocyte number 270 2.595786e-7 0.000008803560148888889 2.14114 56 0.005613472 213 0.005328634561502347 1.901709 20 25 0.002531966 Mouse Phenotype Single KO abnormal memory T cell physiology 286 4.809546e-7 0.000015398955497202797 2.737348 33 0.003307939 289 0.02626427849965398 1.957642 14 17 0.001772376 Mouse Phenotype abnormal lymph node B cell domain morphology 62 2.013281e-22 3.1046741356451615e-20 2.670284 131 0.01313152 379 0.010465336897361477 1.543053 37 57 0.004684137 Mouse Phenotype abnormal lymph node cortex morphology 63 2.389121e-22 3.625775536666667e-20 2.566786 140 0.01403368 496 0.0348613721733871 1.440689 40 66 0.005063932 Mouse Phenotype abnormal lymph node germinal center morphology 65 8.303465e-22 1.2213758286923077e-19 3.341987 90 0.009021652 507 0.03908431195266273 1.634281 22 32 0.002785163 Mouse Phenotype decreased B cell apoptosis 85 9.339094e-17 1.0504832674588236e-14 3.159943 73 0.007317562 478 0.03182392851464435 1.811152 16 21 0.002025573 Mouse Phenotype lymph node hyperplasia 111 1.294281e-14 1.1148306883783786e-12 2.395911 100 0.01002406 261 0.001344222384367816 1.728826 32 44 0.004051146 Mouse Phenotype abnormal cell cycle checkpoint function 139 6.210318e-13 4.271715855971223e-11 2.090896 117 0.01172815 221 0.0004181383080407239 1.632064 46 67 0.005823522 Mouse Phenotype decreased T cell apoptosis 145 2.191768e-12 1.445206472275862e-10 2.25364 94 0.009422614 261 0.001344222384367816 1.728826 32 44 0.004051146 Mouse Phenotype increased pre-B cell number 166 1.796188e-11 1.0345393655421687e-9 2.242122 87 0.00872093 473 0.03086250372938689 1.606173 25 37 0.003164958 Mouse Phenotype increased circulating interleukin-4 level 178 8.413711e-11 4.519297239943821e-9 5.643047 23 0.002305533 510 0.040287991823529413 2.011423 11 13 0.001392581 Mouse Phenotype abnormal mononuclear cell differentiation 195 2.588771e-10 1.269294334923077e-8 2.931612 47 0.004711307 302 0.0031860291258278147 2.020566 17 20 0.002152171 Mouse Phenotype abnormal mortality induced by ionizing radiation 204 6.525219e-10 3.0582166107352945e-8 2.060045 89 0.008921411 266 0.0014514870403759398 1.65951 37 53 0.004684137 Mouse Phenotype decreased cytotoxic T cell cytolysis 205 7.943997e-10 3.705002698390244e-8 2.122842 82 0.008219727 246 0.0009807662140243903 1.719631 34 47 0.004304342 Mouse Phenotype increased fibroblast apoptosis 216 1.630967e-9 7.219294206944445e-8 2.19659 73 0.007317562 272 0.0018120928149264707 1.683805 34 48 0.004304342 Mouse Phenotype increased teratoma incidence 227 2.769153e-9 1.1663379662114537e-7 2.681979 48 0.004811548 454 0.02524230356828194 1.876687 15 19 0.001898975 Mouse Phenotype increased mortality induced by ionizing radiation 244 6.555023e-9 2.568548151762295e-7 2.032174 81 0.008119487 301 0.003189197018272425 1.649442 34 49 0.004304342 Mouse Phenotype increased mortality induced by gamma-irradiation 259 1.527717e-8 5.639576153281854e-7 2.301064 58 0.005813953 335 0.005681191864477611 1.747894 25 34 0.003164958 Mouse Phenotype decreased splenocyte number 276 3.587479e-8 0.0000012427495188043478 2.117415 66 0.006615878 382 0.010470951906282723 1.697955 25 35 0.003164958 Mouse Phenotype increased cellular sensitivity to ultraviolet irradiation 299 1.412785e-7 0.000004517604476588628 2.483477 43 0.004310345 245 0.0009794003521224489 1.901709 24 30 0.003038359 Mouse Phenotype abnormal periosteum morphology 321 2.82122e-7 0.000008403016953271027 2.755383 34 0.00340818 522 0.0426368399137931 2.377136 7 7 0.0008861881 Mouse Phenotype abnormal brachial lymph node morphology 331 4.336174e-7 0.000012525123750453172 2.575012 37 0.003708901 399 0.01285352085112782 2.179042 11 12 0.001392581