# 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 12 3.004508e-29 3.294693397666667e-26 2.792967 161 0.01928606 261 0.0012378580548275861 1.534926 62 113 0.009237187 GO Biological Process regulation of DNA-templated transcription in response to stress 15 5.537449e-28 4.857819426066666e-25 2.622458 171 0.02048395 217 0.00021900475187557603 1.575078 67 119 0.009982122 GO Biological Process rRNA processing 25 2.935652e-23 1.54520978672e-20 2.082018 225 0.02695256 151 0.000003604370361059603 1.465371 132 252 0.01966627 GO Biological Process rRNA metabolic process 26 6.663312e-23 3.3724047156923074e-20 2.052681 229 0.02743172 152 0.000003727205371973684 1.45817 135 259 0.02011323 GO Biological Process liver regeneration 27 7.24459e-23 3.530798511481481e-20 3.592674 86 0.01030187 435 0.02979803519011494 1.758445 22 35 0.003277712 GO Biological Process regulation of intrinsic apoptotic signaling pathway 31 7.169156e-22 3.043191090451613e-19 2.18268 189 0.02264015 305 0.0030145301621639347 1.425836 79 155 0.01176996 GO Biological Process mitochondrial translational termination 35 3.029293e-21 1.1389276167714286e-18 3.105923 97 0.01161955 187 0.00003543407669090909 1.736396 54 87 0.008045292 GO Biological Process macromolecular complex disassembly 38 1.419161e-20 4.9144051576315786e-18 2.057389 203 0.0243172 161 0.000007288148929813664 1.523261 104 191 0.01549464 GO Biological Process mitochondrial translational elongation 41 3.203413e-20 1.0281393089512195e-17 3.059764 94 0.01126018 202 0.00010061514715841585 1.711428 52 85 0.007747318 GO Biological Process cellular protein complex disassembly 46 2.51507e-19 7.194740463043479e-17 2.344928 142 0.01701006 184 0.000021285333298369566 1.620789 73 126 0.01087604 GO Biological Process translational termination 47 2.611351e-19 7.311227193404254e-17 2.778945 104 0.01245807 186 0.00003059452643064516 1.707964 58 95 0.00864124 GO Biological Process endoplasmic reticulum unfolded protein response 51 5.268764e-19 1.3594444210980394e-16 2.410363 132 0.01581217 248 0.0008302840843548387 1.546002 63 114 0.009386174 GO Biological Process translational elongation 52 7.218282e-19 1.826641785346154e-16 2.57105 116 0.01389554 155 0.000005231921617677419 1.698498 68 112 0.01013111 GO Biological Process cellular response to topologically incorrect protein 57 2.229235e-18 5.146404099122807e-16 2.218637 151 0.01808816 232 0.00046717768109913796 1.509457 75 139 0.01117402 GO Biological Process mitochondrial translation 60 8.714038e-18 1.9111337673666668e-15 2.594092 107 0.01281744 192 0.000059742819510416665 1.647142 63 107 0.009386174 GO Biological Process viral gene expression 61 1.354424e-17 2.921781215737705e-15 2.413543 121 0.01449449 195 0.0000754777970923077 1.585999 72 127 0.01072706 GO Biological Process protein complex disassembly 62 1.379856e-17 2.9286330812903223e-15 2.073397 168 0.02012458 203 0.00010538706022167488 1.513128 86 159 0.01281287 GO Biological Process multi-organism metabolic process 63 1.776058e-17 3.7097059082539684e-15 2.203946 145 0.01736943 196 0.00008083748258163267 1.541494 81 147 0.01206794 GO Biological Process regulation of transcription from RNA polymerase II promoter in response to hypoxia 70 1.091438e-16 2.0517475202857144e-14 2.562068 102 0.0122185 299 0.002721479245150502 1.613958 45 78 0.00670441 GO Biological Process cellular response to unfolded protein 71 1.319945e-16 2.446360035915493e-14 2.211737 136 0.01629133 231 0.00044447439126839826 1.549044 67 121 0.009982122 GO Cellular Component ribosomal subunit 29 4.396257e-24 2.619562791724138e-22 2.38511 174 0.02084332 44 8.764188218181819e-7 1.557542 103 185 0.01534565 GO Cellular Component mitochondrial ribosome 31 1.967594e-23 1.0967749780645162e-21 3.480759 92 0.0110206 56 0.00013501206514285715 1.678516 51 85 0.007598331 GO Cellular Component ribosome 40 4.029987e-20 1.740954384e-18 2.013462 209 0.02503594 32 8.826813e-9 1.564718 132 236 0.01966627 GO Cellular Component large ribosomal subunit 41 1.177152e-19 4.9612650146341464e-18 2.636241 116 0.01389554 45 0.00000368326464 1.678516 69 115 0.0102801 GO Cellular Component mitochondrial large ribosomal subunit 42 4.923107e-17 2.02550688e-15 3.755602 59 0.007067561 72 0.00186361464 1.755311 32 51 0.00476758 GO Cellular Component catalytic step 2 spliceosome 43 8.82763e-17 3.547475497674419e-15 2.433719 113 0.01353618 57 0.00015693429221052632 1.631891 56 96 0.008343266 GO Cellular Component azurophil granule lumen 50 1.057684e-13 3.655355904e-12 2.267239 104 0.01245807 79 0.003019540010126582 1.537103 50 91 0.007449344 GO Cellular Component endopeptidase complex 52 2.587507e-13 8.598484799999999e-12 2.583506 78 0.009343555 78 0.0029848452923076922 1.621755 40 69 0.005959476 GO Cellular Component preribosome 53 6.332239e-13 2.0645488664150947e-11 2.469188 82 0.009822712 55 0.00009928048058181818 1.730049 47 76 0.007002384 GO Cellular Component proteasome complex 55 1.705791e-12 5.359285178181818e-11 2.518685 76 0.009103977 81 0.004740023466666667 1.604464 39 68 0.005810489 GO Cellular Component spliceosomal snRNP complex 59 2.485637e-11 7.279967349152543e-10 2.649023 62 0.007426929 106 0.026361601811320756 1.534128 34 62 0.005065554 GO Cellular Component peptidase complex 65 3.009561e-10 8.000802166153845e-9 2.113387 87 0.01042166 82 0.004952962185365853 1.525924 48 88 0.007151371 GO Cellular Component outer mitochondrial membrane protein complex 87 1.618699e-7 0.0000032150711172413795 4.020841 21 0.002515573 58 0.00016428158565517242 2.611025 14 15 0.002085816 GO Cellular Component cytosolic large ribosomal subunit 95 3.894435e-7 0.000007083772294736843 2.08129 58 0.006947772 69 0.0015876207860869565 1.696861 37 61 0.005512515 GO Cellular Component preribosome, large subunit precursor 122 0.000006716883 0.00009513749036065575 2.634492 28 0.003354097 83 0.005065831865060241 2.014219 18 25 0.002681764 GO Cellular Component mitochondrial outer membrane translocase complex 125 0.000008413893 0.000116313656832 3.823845 16 0.001916627 84 0.005182874742857143 2.543206 10 11 0.001489869 GO Cellular Component male pronucleus 171 0.0001636992 0.001654223494736842 3.926969 11 0.001317681 109 0.03302537746788991 2.797527 6 6 0.0008939213 GO Molecular Function structural constituent of ribosome 5 3.306633e-21 2.7921209052e-18 2.345233 157 0.0188069 13 0.00006237845863076922 1.554182 90 162 0.01340882 GO Molecular Function unfolded protein binding 6 5.750563e-21 4.0464794976666665e-18 2.789934 113 0.01353618 27 0.0033711059385185187 1.557114 59 106 0.008790226 GO Molecular Function ribonucleoprotein complex binding 15 4.086073e-12 1.150093347066667e-9 2.070491 111 0.0132966 54 0.017170913092592593 1.459579 60 115 0.008939213 GO Molecular Function proteasome binding 18 1.558367e-11 3.6552363744444448e-9 4.237 33 0.003953043 91 0.04745569756043956 2.331272 10 12 0.001489869 GO Molecular Function rRNA binding 21 2.333287e-10 4.691017959047619e-8 2.9012 48 0.00574988 80 0.0392372783825 1.585265 34 60 0.005065554 GO Molecular Function 5S rRNA binding 101 0.000008412258 0.00035164904233663365 4.04093 15 0.001796838 58 0.018339880286206894 2.543206 10 11 0.001489869 GO Molecular Function ubiquitin-protein transferase regulator activity 123 0.00003126937 0.0010733274808130081 2.196922 34 0.004072832 43 0.010949698088372093 2.303846 14 17 0.002085816 GO Molecular Function phosphatase activator activity 221 0.0004472015 0.008543369832579185 2.076769 27 0.003234308 58 0.018339880286206894 2.543206 10 11 0.001489869 Human Phenotype Abnormal CNS myelination 7 4.596113e-17 4.3814088641428565e-14 2.198561 142 0.01701006 70 0.00027377946268571427 1.566615 70 125 0.01042908 Human Phenotype Increased serum lactate 8 9.65495e-15 8.05343516875e-12 2.348245 105 0.01257786 59 0.00007300344564237289 1.678516 60 100 0.008939213 Human Phenotype Abnormality of the mitochondrion 29 1.513439e-9 3.4824753265517237e-7 2.148283 77 0.009223766 114 0.007358047838596491 1.615473 41 71 0.006108462 Human Phenotype Leukodystrophy 32 2.303683e-9 4.8038989559375e-7 2.389287 60 0.00718735 193 0.03740053996891191 1.622566 29 50 0.00432062 Human Phenotype Abnormality of mitochondrial metabolism 37 2.778148e-9 5.01042746054054e-7 2.141527 75 0.008984188 118 0.007619242710169492 1.621755 40 69 0.005959476 Human Phenotype CNS hypomyelination 61 1.107761e-7 0.000012118178939344263 2.820665 35 0.004192621 168 0.022025551239880953 1.865018 20 30 0.002979738 Human Phenotype Hyperammonemia 78 0.000001156001 0.00009889736760256411 2.036952 56 0.006708194 61 0.00009213601444590163 2.117047 28 37 0.004171633 Human Phenotype Hyperalaninemia 170 0.00006180742 0.002426123021529412 2.875926 19 0.002275994 156 0.01831492112307692 2.367138 11 13 0.001638856 Mouse Phenotype Single KO absent hypoglossal nerve 77 5.742163e-9 6.828699557272727e-7 3.782591 28 0.003354097 130 0.04194668144153846 2.238021 12 15 0.001787843 Mouse Phenotype Single KO absent segment of posterior cerebral artery 110 5.129492e-8 0.000004270068931272727 2.815678 37 0.004432199 94 0.00830334646819149 2.161725 17 22 0.002532777 Mouse Phenotype Single KO abnormal hypoglossal nerve topology 154 6.388578e-7 0.00003798714853636363 2.86148 30 0.003593675 116 0.026507233643965518 2.175854 14 18 0.002085816 Mouse Phenotype Single KO abnormal cerebral artery morphology 191 0.000002882338 0.00013818622547643981 2.336967 38 0.004551989 101 0.009287763773267326 2.098145 18 24 0.002681764 Mouse Phenotype Single KO abnormal infrahyoid muscle morphology 225 0.00001116011 0.00045419167675555557 3.272931 19 0.002275994 76 0.004086249801710526 2.797527 10 10 0.001489869 Mouse Phenotype Single KO abnormal pharyngeal muscle morphology 246 0.00002554195 0.0009507627485772358 3.077197 19 0.002275994 111 0.02078435236126126 2.543206 10 11 0.001489869 Mouse Phenotype Single KO abnormal infrahyoid muscle connection 278 0.00006362823 0.0020958406550719423 3.087286 17 0.002036416 99 0.008783187211313132 2.797527 9 9 0.001340882 Mouse Phenotype increased keratinocyte apoptosis 5 1.69162e-29 3.234715764e-26 7.916514 53 0.006348826 156 0.026241414784615388 2.367138 11 13 0.001638856 Mouse Phenotype abnormal cellular replicative senescence 66 1.828617e-10 2.649001081363636e-8 2.040733 97 0.01161955 106 0.0045047842115094345 1.598587 48 84 0.007151371 Mouse Phenotype early cellular replicative senescence 90 3.546168e-9 3.767212472e-7 2.021142 85 0.01018208 127 0.008818562000787402 1.609536 42 73 0.006257449 Mouse Phenotype absent hypoglossal nerve 92 5.742163e-9 5.967480482934783e-7 3.782591 28 0.003354097 164 0.034717401830487805 2.238021 12 15 0.001787843 Mouse Phenotype absent segment of posterior cerebral artery 121 5.129492e-8 0.000004053146529917355 2.815678 37 0.004432199 116 0.007025433514913794 2.161725 17 22 0.002532777 Mouse Phenotype abnormal hypoglossal nerve topology 167 6.388578e-7 0.00003657556542395209 2.86148 30 0.003593675 146 0.021989717171917805 2.175854 14 18 0.002085816 Mouse Phenotype abnormal cerebral artery morphology 204 0.000002882338 0.0001350884000882353 2.336967 38 0.004551989 123 0.007963014880487805 2.098145 18 24 0.002681764 Mouse Phenotype abnormal infrahyoid muscle morphology 248 0.00001116011 0.0004302492407661291 3.272931 19 0.002275994 94 0.0034495365839361703 2.797527 10 10 0.001489869 Mouse Phenotype abnormal infrahyoid muscle connection 300 0.00006362823 0.0020278316901 3.087286 17 0.002036416 120 0.007565823268 2.797527 9 9 0.001340882 Mouse Phenotype abnormal pharyngeal muscle morphology 322 0.00009338336 0.0027727897669565216 2.784464 19 0.002275994 196 0.049895200454081634 2.331272 10 12 0.001489869