# 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 rRNA processing 15 7.011783e-30 6.1512034998e-27 2.055426 304 0.02660832 192 1.6062444252604167e-9 1.474402 162 252 0.01978747 GO Biological Process rRNA metabolic process 16 2.868703e-29 2.3593289235625e-26 2.023815 309 0.02704595 190 1.3235952446842106e-9 1.469974 166 259 0.02027605 GO Biological Process nuclear-transcribed mRNA catabolic process, nonsense-mediated decay 31 5.387919e-21 2.287084713580645e-18 2.397806 149 0.01304158 255 5.619120057254902e-7 1.593798 82 118 0.01001588 GO Biological Process endoplasmic reticulum unfolded protein response 36 2.828583e-20 1.03392565825e-17 2.228185 167 0.01461707 252 4.2138924710714285e-7 1.609484 80 114 0.009771589 GO Biological Process regulation of transcription from RNA polymerase II promoter in response to stress 39 6.234109e-20 2.1034523161794872e-17 2.180191 172 0.0150547 348 0.00003150953178706896 1.522244 75 113 0.009160865 GO Biological Process viral gene expression 43 8.118704e-20 2.4845122310697674e-17 2.273634 156 0.01365427 269 0.0000016081564981784386 1.553088 86 127 0.01050446 GO Biological Process translational initiation 45 1.34298e-19 3.92717196e-17 2.115143 181 0.01584245 282 0.000003369159898687943 1.507625 94 143 0.01148162 GO Biological Process multi-organism metabolic process 47 2.091155e-19 5.854789073404255e-17 2.076829 187 0.01636761 240 2.649173718041667e-7 1.544612 99 147 0.01209234 GO Biological Process cellular response to topologically incorrect protein 54 1.337506e-18 3.2593039729629627e-16 2.029072 189 0.01654267 279 0.000002856962281218638 1.518009 92 139 0.01123733 GO Biological Process regulation of DNA-templated transcription in response to stress 55 1.699949e-18 4.067205252909091e-16 2.050641 183 0.01601751 298 0.000007012042512080538 1.541858 80 119 0.009771589 GO Biological Process viral transcription 58 6.403744e-18 1.4528770223448277e-15 2.249181 143 0.01251641 257 6.71262607003891e-7 1.60343 79 113 0.009649444 GO Biological Process ribonucleoprotein complex export from nucleus 59 1.314896e-17 2.932663807457627e-15 2.150031 155 0.01356674 334 0.000021664008404191617 1.504545 82 125 0.01001588 GO Biological Process ribonucleoprotein complex localization 62 5.79906e-17 1.2308037183870967e-14 2.100764 157 0.01374179 309 0.000010001708749514564 1.51697 84 127 0.01026017 GO Biological Process protein targeting to ER 63 6.99107e-17 1.460245875079365e-14 2.314962 126 0.01102845 360 0.00004459234193333333 1.544148 68 101 0.008305851 GO Biological Process DNA-templated transcription, elongation 64 7.769004e-17 1.5973800568125e-14 2.207781 139 0.0121663 656 0.007640582785213415 1.376108 66 110 0.008061561 GO Biological Process cellular response to unfolded protein 66 1.012288e-16 2.018287544242424e-14 2.020085 170 0.01487965 263 0.0000011448385037642586 1.573237 83 121 0.01013802 GO Biological Process IRE1-mediated unfolded protein response 71 1.210077e-15 2.2427328511267607e-13 2.676444 88 0.007702407 432 0.00024821099782638885 1.660821 42 58 0.005130084 GO Biological Process mRNA export from nucleus 72 1.226752e-15 2.2420596622222219e-13 2.170619 133 0.01164114 318 0.00001455840585534591 1.557859 72 106 0.00879443 GO Biological Process cotranslational protein targeting to membrane 74 1.613032e-15 2.868363255135135e-13 2.284136 118 0.01032823 341 0.000023720907344868036 1.568015 67 98 0.008183706 GO Biological Process transcription elongation from RNA polymerase II promoter 76 3.14712e-15 5.449072642105264e-13 2.235269 121 0.01059081 612 0.004507073608823529 1.424393 59 95 0.007206547 GO Cellular Component PcG protein complex 23 1.84591e-22 1.3868402086956523e-20 2.710798 128 0.0112035 74 0.000039797404540540544 1.794924 36 46 0.004397215 GO Cellular Component nuclear ubiquitin ligase complex 37 2.856901e-15 1.3342499805405406e-13 3.122979 67 0.005864333 148 0.007737466767567567 1.60546 28 40 0.003420056 GO Cellular Component peptidase complex 45 4.576892e-13 1.757526528e-11 2.09444 118 0.01032823 58 0.000002806933704827587 1.641948 63 88 0.007695126 GO Cellular Component endopeptidase complex 47 5.797405e-13 2.1314714553191487e-11 2.299136 95 0.008315098 61 0.000008644351160655737 1.695206 51 69 0.006229388 GO Cellular Component proteasome complex 48 1.309214e-12 4.7131704e-11 2.27622 94 0.008227571 66 0.000013668749672727273 1.686407 50 68 0.006107243 GO Cellular Component mitochondrial outer membrane translocase complex 49 4.232863e-12 1.4927320946938778e-10 5.064126 29 0.002538293 116 0.0016066586482758622 2.293514 11 11 0.001343594 GO Cellular Component outer mitochondrial membrane protein complex 54 3.617463e-11 1.15758816e-9 4.336961 31 0.002713348 151 0.00874319821986755 1.987712 13 15 0.001587883 GO Cellular Component spliceosomal snRNP complex 59 3.606847e-10 1.05637824e-8 2.278994 73 0.006389497 132 0.0037230610909090908 1.516679 41 62 0.005007939 GO Cellular Component small nuclear ribonucleoprotein complex 73 1.344625e-8 3.182893150684932e-7 2.028146 78 0.006827133 129 0.003168306753488372 1.49577 45 69 0.005496519 GO Cellular Component proteasome accessory complex 85 6.580443e-8 0.0000013377653534117647 2.83524 36 0.003150985 178 0.017611999280898877 1.720136 18 24 0.002198608 GO Cellular Component endoribonuclease complex 88 9.145407e-8 0.0000017958253745454544 2.494031 44 0.003851204 172 0.016047041860465117 1.660821 21 29 0.002565042 GO Cellular Component proteasome regulatory particle 93 1.572633e-7 0.0000029220535741935486 2.779053 35 0.003063457 143 0.00646015820979021 1.856654 17 21 0.002076463 GO Cellular Component MLL1 complex 114 9.411475e-7 0.000014265814736842106 2.391335 40 0.003501094 209 0.04253399242105263 1.581734 20 29 0.002442897 GO Cellular Component spliceosomal tri-snRNP complex 121 0.000002056335 0.00002936650314049587 2.439362 36 0.003150985 172 0.016047041860465117 1.660821 21 29 0.002565042 GO Cellular Component 90S preribosome 124 0.000002425876 0.000033805755870967745 2.134562 47 0.004113786 180 0.018207206400000002 1.627655 22 31 0.002687187 GO Cellular Component sex chromosome 142 0.00001423218 0.00017319159887323944 2.124982 40 0.003501094 184 0.02115416660869565 1.67603 19 26 0.002320752 GO Cellular Component prespliceosome 148 0.00002643905 0.000308693772972973 2.484359 27 0.002363239 143 0.00646015820979021 1.856654 17 21 0.002076463 GO Cellular Component U2-type prespliceosome 155 0.0000321404 0.0003583136206451613 2.683903 23 0.002013129 186 0.022652129032258064 1.86348 13 16 0.001587883 GO Cellular Component anaphase-promoting complex 165 0.00004968185 0.0005203044654545454 2.48941 25 0.002188184 188 0.023041188765957447 1.747439 16 21 0.001954318 GO Cellular Component pre-autophagosomal structure membrane 166 0.00005679604 0.0005912262477108434 2.41796 26 0.002275711 140 0.004661361462857143 2.006825 14 16 0.001710028 GO Molecular Function DNA polymerase binding 7 3.464176e-18 2.0893930102857144e-15 6.224974 38 0.003326039 126 0.012654493374603176 2.006825 14 16 0.001710028 GO Molecular Function cyclin-dependent protein serine/threonine kinase regulator activity 14 1.977825e-11 5.964555107142857e-9 2.641779 63 0.005514223 103 0.0038856074361165046 1.818994 23 29 0.002809332 GO Molecular Function protein phosphatase activator activity 30 4.490573e-10 6.319733068666666e-8 3.462515 36 0.003150985 150 0.03669252945333334 2.293514 8 8 0.0009771589 GO Molecular Function polyubiquitin binding 37 1.225238e-8 0.0000013980959016216217 2.167164 67 0.005864333 111 0.006562794711711711 1.630943 32 45 0.003908636 GO Molecular Function SUMO transferase activity 43 2.793611e-8 0.0000027429361958139535 2.794675 39 0.003413567 95 0.0019436296983157896 2.052092 17 19 0.002076463 GO Molecular Function K63-linked polyubiquitin binding 46 3.588339e-8 0.000003293471143043478 2.580988 44 0.003851204 101 0.003631825012871287 1.965869 18 21 0.002198608 GO Molecular Function mRNA 5'-UTR binding 69 3.38351e-7 0.00002070315828985507 2.528397 39 0.003413567 152 0.038714240078947366 1.772261 17 22 0.002076463 GO Molecular Function SUMO binding 91 0.000001391644 0.00006456616448351648 2.520762 35 0.003063457 156 0.04147589956410257 1.965869 12 14 0.001465738 GO Molecular Function telomeric DNA binding 126 0.000009650323 0.0003233624103650793 2.02099 47 0.004113786 105 0.004003570205904762 1.753864 26 34 0.003175766 Human Phenotype Increased serum lactate 10 1.028288e-12 6.861765824e-10 2.026292 124 0.01085339 36 0.000001437696367111111 1.65133 72 100 0.00879443 Human Phenotype Nevus 16 4.161503e-10 1.7356068449375e-7 2.403885 65 0.005689278 236 0.008980506434745763 1.783844 21 27 0.002565042 Human Phenotype Exercise intolerance 18 7.257798e-10 2.690627003e-7 2.150622 80 0.007002188 205 0.005035084481463415 1.507166 46 70 0.005618664 Human Phenotype Abnormality of glycolysis 29 6.917718e-9 0.000001591790766 3.645964 29 0.002538293 342 0.03208413521052632 2.085013 10 11 0.001221449 Human Phenotype Cytochrome C oxidase-negative muscle fibers 30 7.010632e-9 0.0000015593982445333335 3.643693 29 0.002538293 266 0.016562503906390975 1.911262 15 18 0.001832173 Human Phenotype Dysphonia 35 5.586832e-8 0.000010651694267428571 2.451979 47 0.004113786 200 0.00491686659 1.894642 19 23 0.002320752 Human Phenotype Mesangial abnormality 49 5.165894e-7 0.00007035104216734694 3.480038 23 0.002013129 342 0.03208413521052632 2.085013 10 11 0.001221449 Human Phenotype Basal cell carcinoma 109 0.00002516756 0.0015407626411009174 2.165696 36 0.003150985 331 0.028098894193353475 1.772261 17 22 0.002076463 Human Phenotype Aplasia/Hypoplasia involving the femoral head and neck 111 0.00002738205 0.0016461299067567568 2.130992 37 0.003238512 366 0.041068613855191255 1.67603 19 26 0.002320752 Human Phenotype Ependymoma 180 0.0001253159 0.004645738892777778 3.333556 14 0.001225383 322 0.027015681947204967 2.293514 8 8 0.0009771589 Human Phenotype Progressive macrocephaly 236 0.0004196115 0.011864692963983051 2.086143 27 0.002363239 348 0.03478778714655172 1.720136 18 24 0.002198608 Human Phenotype Atrophy/Degeneration affecting the brainstem 411 0.002770621 0.044983829520681265 2.251589 16 0.001400438 322 0.027015681947204967 2.293514 8 8 0.0009771589 Mouse Phenotype Single KO abnormal cellular replicative senescence 10 4.312676e-12 3.9491174132e-9 2.21504 95 0.008315098 49 0.0000015682149254489795 1.834811 48 60 0.005862953 Mouse Phenotype Single KO absent hypoglossal nerve 20 8.200598e-10 3.7546437943e-7 3.454822 35 0.003063457 225 0.031093830712444443 1.987712 13 15 0.001587883 Mouse Phenotype Single KO early cellular replicative senescence 23 1.490993e-9 5.936096913478261e-7 2.115289 80 0.007002188 62 0.000006406925451935484 1.852454 42 52 0.005130084 Mouse Phenotype Single KO absent segment of posterior cerebral artery 60 1.531845e-7 0.000023378507775 2.446584 44 0.003851204 129 0.0030908310649612404 1.980762 19 22 0.002320752 Mouse Phenotype Single KO abnormal DNA replication 96 0.000003048685 0.0002908000890104166 2.30267 39 0.003413567 118 0.0016827710257627118 1.99436 20 23 0.002442897 Mouse Phenotype Single KO increased embryonic neuroepithelium apoptosis 99 0.000003458068 0.00031985382501010097 2.289949 39 0.003413567 246 0.047476402126016254 1.888776 14 17 0.001710028 Mouse Phenotype Single KO increased hemangioma incidence 104 0.00000585409 0.0005154413666346154 2.998129 23 0.002013129 246 0.047476402126016254 1.888776 14 17 0.001710028 Mouse Phenotype Single KO increased hemangiosarcoma incidence 118 0.00001355283 0.001051722578898305 2.027782 45 0.003938731 199 0.019185935061809045 1.815699 19 24 0.002320752 Mouse Phenotype Single KO decreased white fat cell number 224 0.0003034687 0.012405637883482144 2.206234 25 0.002188184 227 0.031358126330396474 2.102388 11 12 0.001343594 Mouse Phenotype abnormal cellular replicative senescence 1 2.843584e-19 2.7187506624e-15 2.290483 149 0.01304158 51 2.22194453e-9 1.829351 67 84 0.008183706 Mouse Phenotype early cellular replicative senescence 2 4.841401e-18 2.3144317480499998e-14 2.328139 134 0.01172867 56 1.2550253479285715e-8 1.853662 59 73 0.007206547 Mouse Phenotype increased cellular sensitivity to ultraviolet irradiation 25 4.899757e-10 1.8738630670799999e-7 2.672808 53 0.00463895 280 0.008132552453571428 1.758361 23 30 0.002809332 Mouse Phenotype absent hypoglossal nerve 30 8.200598e-10 2.6135305825999996e-7 3.454822 35 0.003063457 359 0.02034756306935933 1.987712 13 15 0.001587883 Mouse Phenotype increased embryonic neuroepithelium apoptosis 37 2.704583e-9 6.988788665675675e-7 2.489103 55 0.004814004 275 0.007813649023636364 1.834811 20 25 0.002442897 Mouse Phenotype increased neural tube apoptosis 41 6.11352e-9 0.0000014256430419512196 2.113664 74 0.006477024 203 0.0018904927621182265 1.706801 32 43 0.003908636 Mouse Phenotype absent segment of posterior cerebral artery 66 1.531845e-7 0.000022190863704545455 2.446584 44 0.003851204 206 0.002020914139514563 1.980762 19 22 0.002320752 Mouse Phenotype abnormal DNA replication 86 6.763496e-7 0.00007519277355348838 2.198387 49 0.00428884 120 0.00010074704562500001 2.038679 24 27 0.002931477 Mouse Phenotype increased incidence of tumors by ionizing radiation induction 94 0.000001245854 0.00012671925631914895 2.664172 32 0.002800875 445 0.040100509860674156 1.810669 15 19 0.001832173 Mouse Phenotype increased adrenal gland tumor incidence 182 0.00005476154 0.0028767861754945053 2.334521 28 0.002450766 267 0.0066344996505617974 2.023689 15 17 0.001832173 Mouse Phenotype decreased cellular sensitivity to gamma-irradiation 251 0.0002085787 0.007945103389243027 2.007124 33 0.002888403 441 0.03933232797959184 1.720136 18 24 0.002198608 Mouse Phenotype decreased spongiotrophoblast size 258 0.0002348332 0.008702481493023256 2.017919 32 0.002800875 445 0.040100509860674156 1.810669 15 19 0.001832173