# 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 transcription from RNA polymerase II promoter in response to stress 8 1.316639e-37 2.1657065751250003e-34 3.024534 185 0.02088508 248 0.000005345233554435484 1.669424 69 113 0.01004659 GO Biological Process regulation of DNA-templated transcription in response to stress 14 2.552182e-33 2.3988687812857142e-30 2.746077 190 0.02144954 225 0.000001926210910933333 1.67715 73 119 0.010629 GO Biological Process rRNA metabolic process 21 2.507907e-31 1.5715022958571429e-28 2.230163 264 0.02980357 92 3.371365836847826e-13 1.65728 157 259 0.02285964 GO Biological Process rRNA processing 22 3.337972e-31 1.9965624339999998e-28 2.249927 258 0.02912621 94 6.152510048510639e-13 1.659919 153 252 0.02227723 GO Biological Process ribosome biogenesis 23 4.377351e-31 2.504415730826087e-28 2.024728 327 0.03691578 47 8.663639218723405e-18 1.684405 199 323 0.02897496 GO Biological Process regulation of intrinsic apoptotic signaling pathway 24 1.211609e-30 6.643151179583333e-28 2.405289 221 0.0249492 246 0.000005119078875365854 1.569836 89 155 0.01295865 GO Biological Process IRE1-mediated unfolded protein response 25 3.886661e-29 2.0457828839599998e-26 3.922799 100 0.01128923 450 0.005696545721111111 1.649818 35 58 0.005096098 GO Biological Process endoplasmic reticulum unfolded protein response 30 1.573338e-27 6.901184914e-25 2.71902 158 0.01783698 236 0.0000033075369533898306 1.678762 70 114 0.0101922 GO Biological Process positive regulation of nuclease activity 32 3.982153e-27 1.63753597896875e-24 6.562648 56 0.006321969 408 0.003082816661887255 2.369453 13 15 0.001892836 GO Biological Process activation of signaling protein activity involved in unfolded protein response 34 3.890311e-26 1.505664777911765e-23 7.604871 48 0.00541883 493 0.008528745606085191 2.733984 8 8 0.001164822 GO Biological Process RNA catabolic process 36 4.74397e-25 1.7340528119444442e-22 2.043232 255 0.02878754 98 1.171954370377551e-12 1.667617 147 241 0.02140361 GO Biological Process nuclear-transcribed mRNA catabolic process 39 3.181653e-24 1.0735223545384616e-21 2.182681 211 0.02382028 115 2.3677023027826087e-11 1.698384 123 198 0.01790914 GO Biological Process mRNA catabolic process 40 3.912411e-24 1.287085408725e-21 2.114046 226 0.02551366 122 8.504067387786885e-11 1.655793 129 213 0.01878276 GO Biological Process response to unfolded protein 41 4.076446e-24 1.3083403149756099e-21 2.237075 199 0.02246557 250 0.0000066720919876 1.554953 91 160 0.01324985 GO Biological Process response to topologically incorrect protein 45 1.045027e-23 3.0558911762222225e-21 2.169571 209 0.02359449 294 0.00006698732177210884 1.473313 97 180 0.01412347 GO Biological Process negative regulation of intrinsic apoptotic signaling pathway 46 2.222498e-23 6.357793735217391e-21 2.555403 148 0.01670806 395 0.002337219960886076 1.541501 53 94 0.007716948 GO Biological Process cellular response to unfolded protein 48 5.228909e-23 1.4334836152291667e-20 2.436904 159 0.01794988 270 0.00002908412414777778 1.604238 71 121 0.0103378 GO Biological Process cellular response to topologically incorrect protein 51 1.330093e-22 3.43190074254902e-20 2.340145 169 0.0190788 317 0.00018675140720189276 1.514509 77 139 0.01121142 GO Biological Process protein targeting to ER 52 2.402255e-22 6.079091066346154e-20 2.819946 119 0.01343418 100 1.638216546e-12 2.030186 75 101 0.01092021 GO Biological Process regulation of transcription from RNA polymerase II promoter in response to hypoxia 54 7.43999e-22 1.813015340925926e-19 2.793311 118 0.01332129 274 0.000033829099569343063 1.752554 50 78 0.00728014 GO Cellular Component ribosomal subunit 26 3.345952e-25 2.2237711753846154e-23 2.37697 184 0.02077218 43 4.688980241860465e-11 1.699503 115 185 0.01674432 GO Cellular Component ribosome 31 2.919995e-22 1.627661729032258e-20 2.042803 225 0.02540077 41 1.3033262985365854e-11 1.633439 141 236 0.02052999 GO Cellular Component endopeptidase complex 41 1.171207e-17 4.936209014634146e-16 2.840554 91 0.0102732 71 0.00009694980507042253 1.74341 44 69 0.006406523 GO Cellular Component large ribosomal subunit 42 2.112931e-17 8.693201828571428e-16 2.463041 115 0.01298261 62 9.68377889032258e-7 1.687938 71 115 0.0103378 GO Cellular Component proteasome complex 45 2.6099e-16 1.0022016e-14 2.748461 88 0.009934522 76 0.0001598973423157895 1.728843 43 68 0.00626092 GO Cellular Component peptidase complex 48 9.375309e-16 3.3751112399999997e-14 2.426679 106 0.01196658 69 0.000048428377043478265 1.677672 54 88 0.007862551 GO Cellular Component catalytic step 2 spliceosome 49 1.057917e-14 3.7307766857142863e-13 2.2733 112 0.01264394 103 0.0024846995883495144 1.509387 53 96 0.007716948 GO Cellular Component mitochondrial ribosome 50 1.89278e-14 6.541447679999999e-13 2.745514 77 0.008692707 122 0.010077810727868852 1.479568 46 85 0.006697729 GO Cellular Component methyltransferase complex 52 2.827548e-13 9.396159507692305e-12 2.165517 111 0.01253105 77 0.00018240635594805193 1.622364 54 91 0.007862551 GO Cellular Component mitochondrial large ribosomal subunit 54 1.043482e-12 3.3391424e-11 3.179437 53 0.005983292 110 0.005850745658181819 1.661833 31 51 0.004513687 GO Cellular Component nuclear chromosome, telomeric region 55 1.147056e-12 3.6038413963636366e-11 2.062263 118 0.01332129 92 0.000735307012173913 1.470552 71 132 0.0103378 GO Cellular Component azurophil granule lumen 58 3.303703e-12 9.84275652413793e-11 2.136703 104 0.0117408 128 0.0157016475 1.442101 48 91 0.006988934 GO Cellular Component outer mitochondrial membrane protein complex 62 1.025148e-11 2.857186683870968e-10 5.052455 28 0.003160984 124 0.010567790245161291 2.187187 12 15 0.001747234 GO Cellular Component mitochondrial outer membrane translocase complex 64 1.368199e-11 3.6941373e-10 5.63076 25 0.002822308 108 0.005016361599999999 2.48544 10 11 0.001456028 GO Cellular Component nuclear ubiquitin ligase complex 66 3.054595e-11 7.997485090909092e-10 3.005972 50 0.005644615 96 0.0012407756399999998 1.845439 27 40 0.003931275 GO Cellular Component preribosome 75 7.39793e-10 1.704483072e-8 2.185132 77 0.008692707 85 0.0003715535435294118 1.65478 46 76 0.006697729 GO Cellular Component small ribosomal subunit 77 8.725697e-10 1.9581823916883118e-8 2.258803 71 0.008015353 75 0.00015699543552 1.70874 45 72 0.006552126 GO Cellular Component intrinsic component of mitochondrial membrane 83 5.595081e-9 1.1648554178313253e-7 2.129726 73 0.008241138 119 0.009471153478991596 1.556268 37 65 0.005387303 GO Cellular Component integral component of mitochondrial membrane 86 9.241168e-9 1.8568300353488375e-7 2.115198 72 0.008128246 127 0.014080383496062991 1.537866 36 64 0.005241701 GO Cellular Component cytosolic small ribosomal subunit 88 1.42548e-8 2.799124363636364e-7 2.434441 52 0.0058704 65 0.000006210713796923077 2.050488 33 44 0.004804892 GO Molecular Function unfolded protein binding 6 2.766376e-21 1.9466065786666666e-18 2.745645 118 0.01332129 98 0.019381543357142858 1.444369 56 106 0.008153757 GO Molecular Function ribonucleoprotein complex binding 7 2.07085e-20 1.2490183857142857e-17 2.443497 139 0.01569203 18 9.281921575555557e-7 1.735485 73 115 0.010629 GO Molecular Function structural constituent of ribosome 8 5.84685e-20 3.0856750875e-17 2.252439 160 0.01806277 11 2.8671935921818183e-10 1.75515 104 162 0.01514269 GO Molecular Function rRNA binding 11 3.672159e-17 1.4094413907272728e-14 3.588589 63 0.007112215 49 0.00017942104155102044 1.822656 40 60 0.005824112 GO Molecular Function protein transporter activity 15 2.62562e-13 7.390245093333334e-11 2.096331 120 0.01354708 58 0.0003265901894482759 1.623303 57 96 0.008299359 GO Molecular Function endoribonuclease activity 21 2.460844e-11 4.947468270476191e-9 2.497986 69 0.007789569 120 0.04766433936666667 1.562276 32 56 0.004659289 GO Molecular Function DNA polymerase binding 28 2.731323e-10 4.118444895e-8 5.070908 24 0.002709415 92 0.01550055442826087 2.221362 13 16 0.001892836 GO Molecular Function ribonuclease activity 29 2.751509e-10 4.005817585517242e-8 2.000354 100 0.01128923 108 0.03294820262407407 1.436032 52 99 0.007571345 GO Molecular Function sulfurtransferase activity 71 0.000002686275 0.00015973877535211268 3.485103 20 0.002257846 115 0.046213241026086954 2.27832 10 12 0.001456028 GO Molecular Function L-serine transmembrane transporter activity 153 0.00007086115 0.0019553972241830066 3.52341 14 0.001580492 106 0.031216285043396227 2.460585 9 10 0.001310425 Human Phenotype Exercise intolerance 9 9.874998e-15 7.321762406e-12 2.739187 79 0.008918492 69 0.00006585928955217391 1.796618 46 70 0.006697729 Human Phenotype Increased serum lactate 10 1.231554e-14 8.218159842e-12 2.297351 109 0.01230526 37 0.0000012516636275675677 1.777089 65 100 0.009464182 Human Phenotype Increased CSF lactate 18 1.251802e-11 4.640708192222222e-9 2.670899 63 0.007112215 118 0.0012899355751694913 1.744093 37 58 0.005387303 Human Phenotype Abnormal CSF metabolite level 24 9.409888e-11 2.6163409426666667e-8 2.495583 65 0.007338 128 0.0019761031203906253 1.692466 39 63 0.005678509 Human Phenotype Progressive external ophthalmoplegia 51 6.796598e-8 0.000008892882049803921 3.546504 26 0.0029352 239 0.02117314421087866 2.187187 12 15 0.001747234 Human Phenotype Increased muscle lipid content 86 0.00000137997 0.00010707604430232558 3.279178 23 0.002596523 180 0.00751353108 2.158408 15 19 0.002184042 Human Phenotype Increased intramyocellular lipid droplets 114 0.00000258887 0.00015153973254385962 3.255344 22 0.002483631 174 0.005699144681034483 2.251516 14 17 0.002038439 Human Phenotype CNS hypomyelination 118 0.000003050776 0.00017252396820338983 2.506364 33 0.003725446 182 0.007480128681868132 1.913789 21 30 0.003057659 Human Phenotype Dysphonia 126 0.000005885993 0.00031172405784920637 2.35509 35 0.003951231 197 0.010152617219796954 2.020771 17 23 0.002475248 Human Phenotype Colon cancer 218 0.0001372719 0.004201905452752293 3.008651 16 0.001806277 290 0.0446737331 2.430208 8 9 0.001164822 Human Phenotype Weight loss 247 0.0002749739 0.0074287483186234815 2.181632 26 0.0029352 262 0.03206017380534351 2.27832 10 12 0.001456028 Human Phenotype Abnormality of visual evoked potentials 279 0.0005724635 0.01369193166845878 2.109201 25 0.002822308 215 0.013729837167441859 2.126432 14 18 0.002038439 Human Phenotype Abnormal activity of mitochondrial respiratory chain 297 0.0007898781 0.01774699178888889 2.276366 20 0.002257846 131 0.002022051950610687 2.392236 14 16 0.002038439 Human Phenotype Decreased activity of mitochondrial respiratory chain 348 0.001348301 0.025854059117816092 2.284297 18 0.002032061 155 0.00411504321516129 2.369453 13 15 0.001892836 Mouse Phenotype Single KO absent hypoglossal nerve 36 2.121021e-13 5.3950525825e-11 4.583325 36 0.004064123 57 0.0012080878294736842 2.551718 14 15 0.002038439 Mouse Phenotype Single KO intestine polyps 85 3.198243e-8 0.000003445448370705882 4.653425 20 0.002257846 112 0.02563327185892857 2.48544 10 11 0.001456028 Mouse Phenotype Single KO abnormal DNA replication 96 1.446695e-7 0.000013799360536458333 2.741512 36 0.004064123 111 0.02472597063693694 2.020771 17 23 0.002475248 Mouse Phenotype Single KO colon polyps 97 1.489447e-7 0.000014060686782474228 5.256435 16 0.001806277 114 0.02566596252105263 2.733984 8 8 0.001164822 Mouse Phenotype absent hypoglossal nerve 40 2.121021e-13 5.06977044525e-11 4.583325 36 0.004064123 84 0.0008559416957142857 2.551718 14 15 0.002038439 Mouse Phenotype early cellular replicative senescence 73 6.784166e-10 8.885398784383562e-8 2.039229 91 0.0102732 105 0.0029116195251428574 1.647881 44 73 0.006406523 Mouse Phenotype delayed hair appearance 136 3.921653e-7 0.00002756979730367647 2.052137 60 0.006773538 185 0.019178011955675676 1.923914 19 27 0.002766453 Mouse Phenotype abnormal jejunum morphology 139 4.534455e-7 0.0000311898735647482 2.3741 43 0.004854369 209 0.033162351373205744 1.892758 18 26 0.00262085 Mouse Phenotype colon polyps 209 0.00001645138 0.0007525915989473684 2.609107 26 0.0029352 213 0.0340397096 2.187187 12 15 0.001747234 Mouse Phenotype abnormal tricuspid valve cusp morphology 256 0.00006803319 0.0025408801937109376 2.854628 19 0.002144954 218 0.03833829426605504 2.733984 7 7 0.00101922