# 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 negative regulation of fibroblast growth factor receptor signaling pathway 27 1.55912e-103 7.598688918518519e-101 4.297071 335 0.0180593 530 0.017433765703584906 1.831009 12 12 0.001170161 GO Biological Process liver development 32 1.697701e-94 6.9812648309375e-92 2.434715 691 0.03725067 663 0.04810753755806938 1.235559 83 123 0.008093613 GO Biological Process regulation of TOR signaling 33 2.534803e-93 1.0107718993030303e-90 3.020207 474 0.02555256 609 0.036537097896551726 1.290029 62 88 0.006045831 GO Biological Process hepaticobiliary system development 35 1.09731e-92 4.125572082857143e-90 2.39773 698 0.03762803 639 0.04512748283724569 1.235205 85 126 0.00828864 GO Biological Process placenta development 46 8.475441e-80 2.4245288721521743e-77 2.304702 650 0.03504043 653 0.04742961041500766 1.216492 97 146 0.009458801 GO Biological Process negative regulation of intrinsic apoptotic signaling pathway 88 1.361557e-64 2.035991882159091e-62 2.885742 350 0.01886792 588 0.03142816785034014 1.285602 66 94 0.006435885 GO Biological Process response to endoplasmic reticulum stress 93 1.835671e-63 2.597375773010753e-61 2.061048 661 0.03563342 242 0.00009781878590082646 1.268199 169 244 0.01647977 GO Biological Process regulation of intrinsic apoptotic signaling pathway 123 2.024544e-56 2.1659328858536587e-54 2.328332 448 0.02415094 380 0.0029358774794210527 1.2758 108 155 0.01053145 GO Biological Process cellular response to insulin stimulus 179 1.084367e-44 7.97161192905028e-43 2.000069 498 0.02684636 196 0.000005684722240255102 1.385629 112 148 0.0109215 GO Biological Process regulation of transcription from RNA polymerase II promoter in response to stress 183 4.31582e-44 3.1033811683060106e-42 2.451366 314 0.01692722 416 0.004505252523798077 1.312493 81 113 0.007898586 GO Biological Process regulation of DNA-templated transcription in response to stress 238 6.765729e-37 3.7407658786134455e-35 2.215419 321 0.01730458 456 0.00730280925241228 1.292477 84 119 0.008191126 GO Biological Process insulin receptor signaling pathway 291 8.97912e-32 4.060351892783505e-30 2.083201 316 0.01703504 284 0.00039573996657042254 1.42908 64 82 0.006240858 GO Biological Process nuclear-transcribed mRNA catabolic process, nonsense-mediated decay 323 1.362831e-29 5.552165055417957e-28 2.309383 233 0.01256065 215 0.00001869794136418605 1.41205 91 118 0.00887372 GO Biological Process translational initiation 347 3.965465e-28 1.5037911796829972e-26 2.058446 286 0.01541779 193 0.000004399559605595856 1.395664 109 143 0.01062896 GO Biological Process cell differentiation involved in embryonic placenta development 354 8.478773e-28 3.151756325056497e-26 2.587512 175 0.009433962 429 0.004775775318648019 1.627564 24 27 0.002340322 GO Biological Process cellular response to light stimulus 389 1.140463e-25 3.857931264010282e-24 2.01674 273 0.01471698 620 0.03887480595645161 1.279738 65 93 0.006338372 GO Biological Process cellular response to UV 424 2.666551e-24 8.275741653066038e-23 2.07498 240 0.01293801 486 0.010056597877983539 1.360885 55 74 0.005363237 GO Biological Process mitochondrial transmembrane transport 435 8.082163e-24 2.444900756712644e-22 2.257068 194 0.01045822 404 0.0040749481814356435 1.367742 62 83 0.006045831 GO Biological Process cotranslational protein targeting to membrane 449 3.599261e-23 1.0548480066592427e-21 2.253274 189 0.01018868 206 0.00001297348365145631 1.457334 78 98 0.007606046 GO Biological Process regulation of mitochondrial membrane permeability 460 1.05956e-22 3.0310326173913038e-21 2.107207 215 0.0115903 507 0.013281664200986195 1.354445 54 73 0.005265724 GO Cellular Component nucleosome 60 3.02823e-24 8.7213024e-23 2.492386 162 0.008733154 111 0.009691028756756757 1.290426 74 105 0.007215992 GO Cellular Component DNA packaging complex 80 1.334629e-18 2.88279864e-17 2.123522 170 0.00916442 107 0.006405429532710281 1.291515 79 112 0.007703559 GO Cellular Component nuclear ubiquitin ligase complex 123 2.914645e-12 4.094720780487805e-11 2.382784 83 0.004474394 131 0.03080962003053435 1.419032 31 40 0.003022916 GO Cellular Component NuA4 histone acetyltransferase complex 210 1.096676e-7 9.0240768e-7 2.220962 55 0.00296496 129 0.03032721711627907 1.627564 16 18 0.001560215 GO Cellular Component eukaryotic translation initiation factor 4F complex 254 0.000003016983 0.000020524986708661417 2.883454 26 0.001401617 147 0.05073636048979592 1.831009 9 9 0.0008776207 GO Cellular Component preribosome, large subunit precursor 256 0.000003243893 0.00002189627775 2.074786 49 0.002641509 109 0.006602816411009174 1.611288 22 25 0.002145295 GO Molecular Function rRNA binding 95 5.261699e-13 2.3384098082105264e-11 2.393633 88 0.004743935 66 0.002289630900909091 1.464807 48 60 0.004680644 GO Molecular Function nucleosomal DNA binding 120 9.4593e-11 3.3280970500000004e-9 2.028914 102 0.005498652 108 0.029478492657407408 1.432964 36 46 0.003510483 Human Phenotype Abnormal CSF metabolite level 8 4.144557e-23 3.457078607625e-20 2.603388 142 0.007654987 97 0.022339731812371137 1.395055 48 63 0.004680644 Human Phenotype Increased serum lactate 9 2.336554e-22 1.7324249824444444e-19 2.113547 210 0.01132075 28 0.00022413336746785717 1.428187 78 100 0.007606046 Human Phenotype Increased intramyocellular lipid droplets 321 0.000005336466 0.00011093531968224299 2.402397 34 0.001832884 110 0.031258182240909094 1.723303 16 17 0.001560215 Mouse Phenotype Single KO abnormal fibroblast physiology 9 1.85331e-102 1.8856399633333333e-99 2.241367 884 0.04765499 104 0.0020371859653846155 1.255549 144 210 0.01404193 Mouse Phenotype Single KO enlarged lymph nodes 26 4.699439e-65 1.6551062662692309e-62 2.32594 519 0.02797844 186 0.020206589437096776 1.266563 92 133 0.008971234 Mouse Phenotype Single KO increased B cell derived lymphoma incidence 93 7.764896e-40 7.645500287311829e-38 2.848549 217 0.01169811 180 0.017937174188333332 1.449549 38 48 0.00370551 Mouse Phenotype Single KO decreased erythroid progenitor cell number 115 1.355456e-34 1.0792965732173912e-32 2.276652 283 0.01525606 241 0.039354734224066386 1.400184 39 51 0.003803023 Mouse Phenotype Single KO decreased total retina thickness 212 2.734773e-22 1.1812413377830189e-20 2.609456 136 0.007331536 135 0.008008915688888889 1.541903 32 38 0.003120429 Mouse Phenotype Single KO increased hemangioma incidence 376 5.9675e-14 1.453308444148936e-12 3.773398 47 0.002533693 199 0.023710210896984926 1.723303 16 17 0.001560215 Mouse Phenotype Single KO abnormal hair follicle orientation 416 5.862312e-13 1.2904132448076923e-11 2.267098 98 0.005283019 235 0.03476472195021277 1.716571 15 16 0.001462701 Mouse Phenotype Single KO increased skin tumor incidence 433 1.448742e-12 3.063771476674365e-11 2.111155 111 0.005983827 143 0.009349252175524476 1.498098 36 44 0.003510483 Mouse Phenotype Single KO increased skin papilloma incidence 453 4.259572e-12 8.610353378366446e-11 2.508212 74 0.003989218 162 0.01669469194691358 1.664554 20 22 0.001950268 Mouse Phenotype Single KO increased mammary adenocarcinoma incidence 490 2.776342e-11 5.18835993755102e-10 2.941441 52 0.002803235 162 0.01669469194691358 1.664554 20 22 0.001950268 Mouse Phenotype thoracic vertebral fusion 10 6.836472e-122 6.5363508792e-119 5.290422 320 0.01725067 342 0.0430387296754386 1.708942 14 15 0.001365188 Mouse Phenotype abnormal fibroblast proliferation 16 2.460769e-103 1.4704632755625e-100 2.557408 690 0.03719677 182 0.005354874448351648 1.260165 117 170 0.01140907 Mouse Phenotype abnormal fibroblast physiology 17 3.344296e-103 1.8808714150588236e-100 2.157262 967 0.05212938 49 0.000035110060297959186 1.28822 178 253 0.01735739 Mouse Phenotype enlarged lymph nodes 53 4.072661e-71 7.346926758679244e-69 2.019327 779 0.04199461 297 0.02839490485757576 1.193056 144 221 0.01404193 Mouse Phenotype epidermal hyperplasia 169 3.907905e-36 2.2108567872781066e-34 2.028049 386 0.02080863 280 0.02533424609142857 1.283418 75 107 0.007313506 Mouse Phenotype abnormal Paneth cell morphology 193 2.949404e-32 1.4611011214507772e-30 2.471679 223 0.01202156 348 0.044597119655172414 1.445534 30 38 0.002925402 Mouse Phenotype increased B cell derived lymphoma incidence 237 3.683728e-28 1.4860811564556963e-26 2.140492 261 0.01407008 335 0.03929405466268657 1.314571 56 78 0.005460751 Mouse Phenotype abnormal epidermis stratum granulosum morphology 251 1.029561e-26 3.921766024302789e-25 2.030605 280 0.01509434 50 0.000039822291636 1.506527 65 79 0.006338372 Mouse Phenotype absent segment of posterior cerebral artery 364 1.42885e-19 3.753086497252747e-18 3.08221 90 0.004851752 353 0.04761107150141644 1.581326 19 22 0.001852755 Mouse Phenotype short vibrissae 490 3.89997e-15 7.609716973469388e-14 2.205982 124 0.006684636 353 0.04761107150141644 1.581326 19 22 0.001852755 Mouse Phenotype increased cellular sensitivity to ultraviolet irradiation 564 3.737778e-13 6.336328981914894e-12 2.515876 81 0.004366577 301 0.029948952633887044 1.525841 25 30 0.002437835 Mouse Phenotype increased incidence of corneal inflammation 789 2.64488e-9 3.205031391634981e-8 2.228273 69 0.003719677 248 0.019075054718951615 1.656627 19 21 0.001852755 Mouse Phenotype abnormal epidermal lamellar body morphology 1108 0.000002532431 0.00002185250251895307 2.573741 32 0.001725067 329 0.03738124325835866 1.831009 11 11 0.001072647