# 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 2 2.199328e-34 1.4470478575999999e-30 3.615618 131 0.02496665 331 0.016385678237160122 1.640475 41 113 0.009872381 GO Biological Process regulation of DNA-templated transcription in response to stress 5 1.574299e-32 4.1432401082000006e-29 3.342754 137 0.02611016 263 0.007931599758555133 1.671745 44 119 0.01059475 GO Biological Process liver regeneration 11 7.928378e-30 9.48450237290909e-27 5.117779 77 0.01467505 346 0.018910738049132948 2.196065 17 35 0.004093426 GO Biological Process endoplasmic reticulum unfolded protein response 16 1.828932e-26 1.50418226175e-23 3.282906 113 0.02153612 241 0.006064721012033195 1.705406 43 114 0.01035396 GO Biological Process cellular response to epidermal growth factor stimulus 24 3.459629e-24 1.8968857504583333e-21 3.761538 86 0.01639032 348 0.019026340970114942 2.141673 18 38 0.004334216 GO Biological Process cellular response to topologically incorrect protein 28 6.647338e-23 3.1240114550714285e-20 2.828565 121 0.0230608 417 0.031395919252038364 1.528788 47 139 0.01131712 GO Biological Process cellular response to unfolded protein 30 1.450658e-22 6.363069540666667e-20 2.923778 113 0.02153612 349 0.018980677337535813 1.606746 43 121 0.01035396 GO Biological Process response to topologically incorrect protein 44 8.195491e-21 2.4510105924772728e-18 2.453467 140 0.02668191 424 0.033329046922169814 1.456867 58 180 0.01396581 GO Biological Process response to unfolded protein 48 1.962724e-20 5.3807260658333336e-18 2.505105 132 0.02515723 338 0.018003629898224852 1.525942 54 160 0.01300265 GO Biological Process regulation of transcription from RNA polymerase II promoter in response to hypoxia 57 4.598059e-19 1.0615062873859648e-16 3.237031 81 0.01543739 315 0.013924085147301589 1.796931 31 78 0.007464484 GO Biological Process response to endoplasmic reticulum stress 58 5.606931e-19 1.2720966384310345e-16 2.050371 186 0.03544883 251 0.006745769994023904 1.463867 79 244 0.01902239 GO Biological Process protein-lipid complex assembly 112 1.82863e-13 2.148476979464286e-11 4.270656 39 0.007432819 140 0.0003895321540428572 2.80633 18 29 0.004334216 GO Biological Process regulation of pri-miRNA transcription from RNA polymerase II promoter 122 3.723704e-13 4.0164115521311476e-11 2.998293 60 0.01143511 239 0.0059374784464435145 2.494516 16 29 0.003852637 GO Biological Process embryonic placenta development 131 9.409532e-13 9.451910808244275e-11 2.063965 118 0.02248904 413 0.02994587894842615 1.676441 33 89 0.007946063 GO Biological Process negative regulation of pri-miRNA transcription from RNA polymerase II promoter 151 5.561204e-12 4.846349896423841e-10 3.806619 39 0.007432819 343 0.018761127743440232 3.288225 8 11 0.001926318 GO Biological Process protein-lipid complex subunit organization 181 3.984622e-11 2.8968862374585638e-9 2.978698 50 0.009529255 160 0.0010347933298124998 2.308754 24 47 0.005778955 GO Biological Process insulin receptor signaling pathway 182 4.249151e-11 3.072229560934066e-9 2.144197 92 0.01753383 410 0.029262952104878052 1.709276 31 82 0.007464484 GO Biological Process negative regulation of protein localization to plasma membrane 195 1.058831e-10 7.145208784102565e-9 3.309798 41 0.007813989 453 0.039789446366445914 2.48672 11 20 0.002648688 GO Biological Process cortical cytoskeleton organization 210 2.29781e-10 1.4398515138095239e-8 2.862024 49 0.00933867 431 0.03411365416937355 2.127675 16 34 0.003852637 GO Biological Process regulation of mitochondrial membrane permeability 217 3.474526e-10 2.1069717803686634e-8 2.356191 68 0.01295979 350 0.019396907398857143 1.796137 29 73 0.006982904 GO Cellular Component very-low-density lipoprotein particle 61 6.026819e-8 0.0000017072693822950818 3.941634 23 0.004383457 69 0.034303454608695653 2.48672 11 20 0.002648688 GO Molecular Function RNA polymerase II core promoter sequence-specific DNA binding 14 9.659531e-16 2.9130385630000003e-13 2.481758 101 0.01924909 44 0.00948326641 2.026794 26 58 0.006260535 GO Molecular Function histone acetyltransferase binding 15 1.798428e-15 5.061975343999999e-13 3.406361 60 0.01143511 49 0.013763961257142856 2.511839 15 27 0.003611847 GO Molecular Function deoxyribonucleotide binding 142 0.00005766729 0.0017145866083098592 9.300131 6 0.001143511 62 0.03597413663225806 4.52131 5 5 0.001203949 Human Phenotype Abnormal CNS myelination 22 4.478644e-13 1.3584541550909092e-10 2.315524 94 0.017915 3 0.00008661024608666667 1.989376 55 125 0.01324344 Human Phenotype Increased serum lactate 37 2.927009e-10 5.278900285675676e-8 2.383967 67 0.0127692 27 0.0244785263562963 1.763311 39 100 0.009390802 Human Phenotype Leukodystrophy 54 1.114274e-8 0.0000013769537781481481 2.724312 43 0.008195159 12 0.0074634780191666665 2.260655 25 50 0.006019745 Mouse Phenotype Single KO abnormal spleen secondary B follicle morphology 23 3.738072e-22 1.4882402306086956e-19 2.76735 121 0.0230608 166 0.042638307275301206 1.640083 37 102 0.008909222 Mouse Phenotype Single KO abnormal spleen B cell follicle morphology 44 4.71918e-18 9.821257104545454e-16 2.271129 140 0.02668191 135 0.02004499179925926 1.595756 48 136 0.01155791 Mouse Phenotype Single KO abnormal embryonic hematopoiesis 92 2.915386e-14 2.9017597393478264e-12 2.503606 89 0.01696207 66 0.0019492616893939394 2.218001 26 53 0.006260535 Mouse Phenotype Single KO skin fibrosis 153 2.03152e-10 1.2158580810457517e-8 4.932272 25 0.004764627 156 0.035498724714743586 3.516574 7 9 0.001685529 Mouse Phenotype Single KO decreased erythroid progenitor cell number 176 1.401931e-9 7.294023958522728e-8 2.161507 76 0.01448447 158 0.03704273675759494 1.950369 22 51 0.005297375 Mouse Phenotype Single KO prenatal lethality prior to heart atrial septation 260 2.099896e-7 0.000007395672181538461 2.226126 52 0.009910425 95 0.009526250723578948 2.026794 26 58 0.006260535 Mouse Phenotype Single KO increased hepatocyte apoptosis 331 0.000004028485 0.00011144663790030214 2.195402 42 0.008004574 119 0.017507814642016808 2.153005 20 42 0.004815796 Mouse Phenotype Single KO increased width of hypertrophic chondrocyte zone 338 0.000004635931 0.0001255953259378698 2.078645 47 0.0089575 163 0.04173287581963191 2.19215 16 33 0.003852637 Mouse Phenotype Single KO small intestinal inflammation 442 0.00005408017 0.001120389404276018 2.729988 21 0.004002287 115 0.015673965236521738 2.925553 11 17 0.002648688 Mouse Phenotype Single KO increased compact bone volume 856 0.003942634 0.04217605086214954 2.981685 9 0.001715266 161 0.0376740877173913 3.875408 6 7 0.001444739 Mouse Phenotype dry eyes 40 3.374685e-22 8.066340821249999e-20 5.336643 54 0.0102916 271 0.02063177362915129 2.825819 10 16 0.002407898 Mouse Phenotype abnormal spleen secondary B follicle morphology 41 3.601479e-22 8.398473346097561e-20 2.443304 151 0.02877835 151 0.0023258747105960264 1.679344 52 140 0.01252107 Mouse Phenotype abnormal spleen B cell follicle morphology 54 1.551053e-18 2.746225506111111e-16 2.06626 178 0.03392415 130 0.0014639060383846152 1.593 68 193 0.01637371 Mouse Phenotype abnormal transitional stage T2 B cell morphology 70 1.72183e-16 2.3517738042857144e-14 3.857529 55 0.01048218 192 0.0053700601421875 2.494516 16 29 0.003852637 Mouse Phenotype decreased circulating serum albumin level 71 2.006246e-16 2.7016504233802816e-14 2.367004 116 0.02210787 341 0.04348045595894428 1.576236 38 109 0.009150012 Mouse Phenotype decreased trabecular bone thickness 81 2.254428e-15 2.661060013333334e-13 2.435048 102 0.01943968 324 0.03668157325 1.794171 25 63 0.006019745 Mouse Phenotype abnormal osteoblast differentiation 113 2.118194e-13 1.7922170649557522e-11 2.162098 112 0.02134553 335 0.04206566013134329 1.754538 26 67 0.006260535 Mouse Phenotype abnormal embryonic hematopoiesis 143 3.057266e-12 2.0440923234965037e-10 2.256925 92 0.01753383 148 0.002056616320945946 2.075355 28 61 0.006742114 Mouse Phenotype decreased transitional stage T2 B cell number 148 3.988706e-12 2.5767579774324324e-10 3.497089 44 0.008385744 344 0.045114023197674415 2.260655 13 26 0.003130267 Mouse Phenotype increased hepatocyte apoptosis 237 3.424284e-9 1.381416849113924e-7 2.207879 69 0.01315037 169 0.0034028311831952665 1.965787 30 69 0.007223694 Mouse Phenotype increased midbrain apoptosis 248 6.57163e-9 2.5335223560483874e-7 5.129483 20 0.003811702 263 0.019204871694296577 4.52131 5 5 0.001203949 Mouse Phenotype abnormal cellular replicative senescence 289 7.864678e-8 0.000002601874960484429 2.108757 63 0.01200686 221 0.012140021345701357 1.776229 33 84 0.007946063 Mouse Phenotype prenatal lethality prior to heart atrial septation 315 2.099896e-7 0.000006373684335238094 2.226126 52 0.009910425 186 0.005080222957096775 2.026794 26 58 0.006260535 Mouse Phenotype increased transitional stage B cell number 317 2.383185e-7 0.00000718789646214511 2.349986 46 0.008766914 285 0.02513961288631579 2.135063 17 36 0.004093426 Mouse Phenotype skin fibrosis 368 9.185323e-7 0.000023864367718206525 2.52705 36 0.006861063 185 0.00506754085881081 2.798906 13 21 0.003130267 Mouse Phenotype abnormal oxidative phosphorylation 441 0.000007392019 0.0001602609833537415 2.186103 40 0.007623404 358 0.04607675577653631 1.861716 21 51 0.005056586 Mouse Phenotype decreased mitochondrial DNA content 699 0.0004950026 0.0067707007991416315 2.499657 18 0.003430532 314 0.034681644477707003 2.659594 10 17 0.002407898