# 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 51 2.384961e-67 6.153667019411765e-65 2.578654 443 0.01780618 460 0.0003050613781521739 1.308637 91 113 0.007875379 GO Biological Process regulation of DNA-templated transcription in response to stress 59 7.661925e-64 1.7088690012711866e-61 2.423722 471 0.01893163 422 0.0001654047010094787 1.310933 96 119 0.008308092 GO Biological Process endoplasmic reticulum unfolded protein response 81 8.515417e-55 1.3833873123827162e-52 2.438603 398 0.01599743 921 0.01667013838762215 1.225885 86 114 0.007442666 GO Biological Process liver regeneration 96 1.849632e-52 2.53534453e-50 3.280083 234 0.009405523 763 0.007007652123722149 1.439295 31 35 0.002682821 GO Biological Process cellular response to epidermal growth factor stimulus 105 1.433071e-50 1.7959791703809524e-48 2.739691 297 0.01193778 1060 0.027039485624528303 1.36843 32 38 0.002769364 GO Biological Process cellular response to topologically incorrect protein 117 4.979861e-49 5.600853922991454e-47 2.18898 444 0.01784638 810 0.010223516273086418 1.215835 104 139 0.009000433 GO Biological Process regulation of intrinsic apoptotic signaling pathway 119 3.389211e-48 3.747783827647059e-46 2.026653 523 0.02102175 446 0.00023098438217713003 1.268557 121 155 0.01047166 GO Biological Process cellular response to unfolded protein 123 3.445911e-47 3.686564459268293e-45 2.231862 409 0.01643957 1031 0.024791019939864208 1.208686 90 121 0.007788836 GO Biological Process negative regulation of intrinsic apoptotic signaling pathway 138 3.463683e-44 3.3027974345652175e-42 2.268437 369 0.01483179 815 0.0103547751203681 1.261976 73 94 0.006317611 GO Biological Process secondary alcohol metabolic process 187 2.55655e-38 1.7990182593582888e-36 2.000916 426 0.01712287 335 0.000016091775790447764 1.347231 97 117 0.008394634 GO Biological Process triglyceride homeostasis 188 3.784537e-38 2.648974594840426e-36 3.446219 157 0.006310543 700 0.004749344400142858 1.472666 29 32 0.002509736 GO Biological Process platelet-derived growth factor receptor signaling pathway 196 8.891403e-37 5.96948837127551e-35 2.397808 272 0.01093292 869 0.012901880105638664 1.42804 29 33 0.002509736 GO Biological Process regulation of transcription from RNA polymerase II promoter in response to hypoxia 231 1.046754e-33 5.962872677922078e-32 2.292498 272 0.01093292 1120 0.033670050791071424 1.250008 60 78 0.005192557 GO Biological Process nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay 264 1.221467e-31 6.088365247348484e-30 2.316397 249 0.01000844 1212 0.04185505495957096 1.261202 52 67 0.004500216 GO Biological Process high-density lipoprotein particle remodeling 281 1.172993e-30 5.493030208896796e-29 4.487167 91 0.003657703 1134 0.034997404865079365 1.529422 16 17 0.001384682 GO Biological Process regulation of mitochondrial membrane permeability 296 1.049768e-29 4.666857132432432e-28 2.104613 288 0.01157603 461 0.00030970377295010847 1.380146 62 73 0.005365643 GO Biological Process nuclear-transcribed mRNA catabolic process, nonsense-mediated decay 299 1.837531e-29 8.086980076588629e-28 2.106182 285 0.01145544 891 0.014399552540740742 1.225644 89 118 0.007702293 GO Biological Process regulation of membrane permeability 302 2.985439e-29 1.3008407881125828e-27 2.017949 314 0.01262109 527 0.0007457025518595824 1.344145 67 81 0.005798356 GO Biological Process protein-lipid complex subunit organization 326 1.550809e-27 6.259845285582822e-26 2.437453 194 0.007797741 611 0.0021312234560065466 1.417563 41 47 0.003548248 GO Biological Process protein targeting to ER 328 1.830739e-27 7.344723933231707e-26 2.14304 254 0.01020941 1091 0.030035134056828595 1.22278 76 101 0.006577239 GO Cellular Component high-density lipoprotein particle 52 2.465288e-29 8.192341661538462e-28 3.860603 103 0.004140038 138 0.021929910260869566 1.444454 24 27 0.002077023 GO Cellular Component endopeptidase complex 82 1.160531e-19 2.4456067902439025e-18 2.089403 188 0.007556574 82 0.0008415836253658537 1.365951 58 69 0.005019472 GO Cellular Component PcG protein complex 86 1.948548e-19 3.915222027906977e-18 2.003446 206 0.008280076 136 0.022076267294117647 1.3424 38 46 0.00328862 GO Cellular Component proteasome complex 87 2.313796e-19 4.595677572413793e-18 2.079464 187 0.007516379 87 0.001092046543448276 1.362141 57 68 0.004932929 GO Cellular Component protein-lipid complex 107 2.238872e-16 3.615673659813084e-15 2.081829 155 0.006230154 144 0.023505936 1.354176 35 42 0.003028992 GO Cellular Component plasma lipoprotein particle 111 6.321944e-16 9.841729037837838e-15 2.08906 149 0.005988987 156 0.040547985230769225 1.340634 33 40 0.002855907 GO Cellular Component very-low-density lipoprotein particle 118 3.696161e-15 5.4126832271186443e-14 2.819169 78 0.003135174 119 0.01183382319327731 1.54376 19 20 0.00164431 GO Cellular Component pore complex 122 7.115837e-15 1.0078824865573772e-13 2.646492 85 0.003416536 143 0.023621735832167836 1.534732 17 18 0.001471225 GO Cellular Component U1 snRNP 138 1.756455e-13 2.1993871304347825e-12 2.709801 73 0.002934202 89 0.001902877288988764 1.625011 19 19 0.00164431 GO Cellular Component prespliceosome 263 7.306647e-7 0.0000048007171163498105 2.154984 51 0.002049922 155 0.03985532779354839 1.470248 19 21 0.00164431 Human Phenotype Aplasia/hypoplasia of the femur 32 1.462729e-21 3.0502470678125e-19 2.455552 147 0.005908598 182 0.006231969697252748 1.477283 30 33 0.002596279 Human Phenotype Abnormality of mitochondrial metabolism 46 5.584068e-20 8.10054038347826e-18 2.012014 210 0.008440854 265 0.024190110995849053 1.295298 55 69 0.004759844 Human Phenotype Abnormality of monocarboxylic acid metabolism 83 2.877685e-16 2.313589398192771e-14 2.869887 82 0.003295952 311 0.038841966668810284 1.625011 13 13 0.001125054 Human Phenotype Aplasia/Hypoplasia involving the femoral head and neck 105 2.678763e-14 1.7024176665714284e-12 2.459724 93 0.003738092 347 0.049083684187319884 1.43751 23 26 0.00199048 Human Phenotype Short femoral neck 109 3.930942e-14 2.4065299051376145e-12 2.485034 90 0.003617509 298 0.03596614883557047 1.483706 21 23 0.001817395 Mouse Phenotype Single KO abnormal mesangial matrix morphology 81 4.115957e-38 4.6530639813580254e-36 2.482424 264 0.01061136 594 0.04647598352020202 1.361496 31 37 0.002682821 Mouse Phenotype Single KO expanded mesangial matrix 91 2.308496e-36 2.32295581010989e-34 2.47892 252 0.01012902 513 0.03012472715984405 1.392866 30 35 0.002596279 Mouse Phenotype Single KO absent segment of posterior cerebral artery 177 8.579416e-27 4.438514819887006e-25 3.140768 123 0.004943929 553 0.03975244125858952 1.477283 20 22 0.001730852 Mouse Phenotype Single KO decreased fibroblast cell migration 214 1.519551e-24 6.502116124766355e-23 2.010159 263 0.01057116 513 0.03012472715984405 1.392866 30 35 0.002596279 Mouse Phenotype Single KO increased circulating glucagon level 380 1.024996e-16 2.4699706242105266e-15 2.324482 124 0.004984123 596 0.046337538911073825 1.529422 16 17 0.001384682 Mouse Phenotype Single KO absent ductus venosus valve 393 2.295992e-16 5.349719782188295e-15 2.272461 127 0.005104707 553 0.03975244125858952 1.477283 20 22 0.001730852 Mouse Phenotype Single KO increased liver adenoma incidence 488 3.47432e-14 6.519333655737704e-13 2.520666 88 0.00353712 450 0.016583225255555556 1.54376 19 20 0.00164431 Mouse Phenotype Single KO abnormal hypoglossal nerve topology 507 8.500863e-14 1.5353531063313609e-12 2.592412 81 0.003255758 532 0.033646948977443615 1.534732 17 18 0.001471225 Mouse Phenotype Single KO increased hepatocyte proliferation 565 1.190532e-12 1.9295046945132743e-11 2.507434 78 0.003135174 582 0.04630208729381443 1.625011 12 12 0.001038511 Mouse Phenotype Single KO abnormal kidney arterial blood vessel morphology 605 6.219365e-12 9.413343025619835e-11 2.269455 89 0.003577314 522 0.03175580939846743 1.625011 13 13 0.001125054 Mouse Phenotype Single KO decreased creatinine clearance 677 6.135897e-11 8.299321835893648e-10 2.505453 66 0.00265284 596 0.046337538911073825 1.529422 16 17 0.001384682 Mouse Phenotype Single KO increased circulating ammonia level 916 1.220689e-8 1.2202892110262007e-7 2.28137 60 0.002411672 522 0.03175580939846743 1.625011 13 13 0.001125054 Mouse Phenotype Single KO abnormal stapedial artery morphology 934 1.667512e-8 1.6348401910064242e-7 2.110785 70 0.002813618 596 0.046337538911073825 1.529422 16 17 0.001384682 Mouse Phenotype Single KO delayed hepatic development 940 1.80459e-8 1.7579394287234043e-7 2.174985 65 0.002612645 582 0.04630208729381443 1.625011 12 12 0.001038511 Mouse Phenotype Single KO abnormal nucleotide metabolism 1200 0.000001111148 0.000008478985196666668 2.293407 43 0.001728365 582 0.04630208729381443 1.625011 12 12 0.001038511 Mouse Phenotype decreased circulating free fatty acid level 63 2.366137e-52 3.5908945804761903e-50 2.08719 530 0.02130311 563 0.006498187144049733 1.242655 91 119 0.007875379 Mouse Phenotype dry eyes 141 1.064926e-36 7.2211046e-35 3.313978 159 0.006390932 916 0.048426621566593886 1.523448 15 16 0.001298139 Mouse Phenotype absent segment of posterior cerebral artery 246 8.579416e-27 3.334463267317073e-25 3.140768 123 0.004943929 792 0.02898103278787879 1.477283 20 22 0.001730852 Mouse Phenotype increased liver adenoma incidence 247 1.046259e-26 4.04991186194332e-25 2.989482 132 0.005305679 355 0.0006151321167887323 1.566975 27 28 0.002336651 Mouse Phenotype abnormal vitelline vein morphology 318 5.930395e-23 1.7830347985849054e-21 2.290238 181 0.007275212 870 0.04071088086551724 1.43001 22 25 0.001903938 Mouse Phenotype increased hepatocyte proliferation 467 2.176949e-17 4.456918498715204e-16 2.05495 171 0.006873267 738 0.02186423212601626 1.392866 30 35 0.002596279 Mouse Phenotype abnormal sublingual gland morphology 483 5.233955e-17 1.0360630177018634e-15 2.852604 87 0.003496925 828 0.03398156070652174 1.625011 12 12 0.001038511 Mouse Phenotype absent ductus venosus valve 509 2.295992e-16 4.31276611237721e-15 2.272461 127 0.005104707 792 0.02898103278787879 1.477283 20 22 0.001730852 Mouse Phenotype abnormal Peyer's patch follicle morphology 578 9.790708e-15 1.619532165882353e-13 2.193305 122 0.004903734 742 0.022695610588948787 1.415332 27 31 0.002336651 Mouse Phenotype abnormal hypoglossal nerve topology 631 8.500863e-14 1.2880626171632329e-12 2.592412 81 0.003255758 760 0.0245919990631579 1.534732 17 18 0.001471225 Mouse Phenotype abnormal kidney arterial blood vessel morphology 657 2.058074e-13 2.9950145378995436e-12 2.345834 95 0.003818481 618 0.010596247443203885 1.625011 15 15 0.001298139 Mouse Phenotype abnormal Peyer's patch germinal center morphology 678 4.465986e-13 6.2978307e-12 2.460042 84 0.003376341 760 0.0245919990631579 1.534732 17 18 0.001471225 Mouse Phenotype abnormal inferior vena cava valve morphology 711 1.318923e-12 1.773589705063291e-11 2.677929 69 0.002773423 921 0.04966259537459284 1.625011 11 11 0.0009519688 Mouse Phenotype decreased creatinine clearance 832 6.135897e-11 7.051119136658653e-10 2.505453 66 0.00265284 836 0.034492371104066985 1.529422 16 17 0.001384682 Mouse Phenotype abnormal hepatic vein morphology 861 1.447173e-10 1.6070175439024393e-9 2.772221 53 0.002130311 921 0.04966259537459284 1.625011 11 11 0.0009519688 Mouse Phenotype increased cellular sensitivity to ultraviolet irradiation 945 6.782639e-10 6.862308093015874e-9 2.061129 89 0.003577314 441 0.0019234149879591839 1.516677 28 30 0.002423193 Mouse Phenotype distorted hair follicle pattern 1015 2.176871e-9 2.0505481409852216e-8 2.396328 60 0.002411672 921 0.04966259537459284 1.625011 11 11 0.0009519688 Mouse Phenotype abnormal nucleotide metabolism 1186 5.415608e-8 4.3658202435075877e-7 2.429575 48 0.001929338 669 0.015913777152466366 1.625011 14 14 0.001211597 Mouse Phenotype fusion of vertebral bodies 1337 4.152648e-7 0.00000296959368197457 2.443064 41 0.001647976 921 0.04966259537459284 1.625011 11 11 0.0009519688