# 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 endoplasmic reticulum unfolded protein response 21 3.015838e-43 1.8897815353333336e-40 2.736247 252 0.01795 583 0.01469637070994854 1.328613 71 114 0.008066349 GO Biological Process mitochondrial transport 22 5.433766e-43 3.2501330360909095e-40 2.057335 444 0.03162618 185 0.000004301690614648649 1.365647 153 239 0.01738241 GO Biological Process cellular response to unfolded protein 30 1.389186e-36 6.093432858e-34 2.465931 255 0.01816369 746 0.034570915565683646 1.287011 73 121 0.00829357 GO Biological Process response to unfolded protein 46 3.811055e-31 1.0902102770652173e-28 2.113699 298 0.02122658 718 0.029872579456824516 1.253293 94 160 0.01067939 GO Biological Process regulation of intrinsic apoptotic signaling pathway 53 3.213631e-30 7.978900062075472e-28 2.07387 302 0.0215115 748 0.0346798759946524 1.252433 91 155 0.01033856 GO Biological Process cellular response to epidermal growth factor stimulus 57 1.547673e-29 3.572952457368421e-27 2.74632 168 0.01196666 466 0.0058794581429184554 1.628018 29 38 0.003294706 GO Biological Process response to epidermal growth factor 72 2.713684e-27 4.959634410555556e-25 2.590312 171 0.01218035 517 0.009072336378529982 1.574553 31 42 0.003521927 GO Biological Process regulation of endoplasmic reticulum unfolded protein response 94 3.229996e-24 4.521650783404255e-22 3.184275 108 0.007692856 767 0.037110781903520206 1.669512 18 23 0.00204499 GO Biological Process regulation of membrane permeability 99 1.457527e-23 1.9373331104040406e-21 2.232202 196 0.01396111 568 0.013267733187676056 1.39584 53 81 0.006021359 GO Biological Process regulation of mitochondrial membrane permeability 108 5.889781e-23 7.176261868425927e-21 2.305136 178 0.01267897 744 0.033833628430107524 1.373472 47 73 0.005339696 GO Biological Process liver regeneration 125 1.461072e-21 1.53809971584e-19 2.831852 114 0.008120236 842 0.0445306186175772 1.523761 25 35 0.002840264 GO Biological Process negative regulation of release of cytochrome c from mitochondria 173 3.879265e-18 2.9507079846820807e-16 3.331981 74 0.005271031 855 0.04629012996491228 1.756807 14 17 0.001590548 GO Biological Process positive regulation of mRNA metabolic process 192 1.216538e-17 8.337720594791667e-16 2.318673 132 0.009402379 788 0.03898995000761422 1.435852 35 52 0.003976369 GO Biological Process mitochondrial transmembrane transport 207 4.191952e-17 2.664825911497585e-15 2.198298 143 0.01018591 491 0.007505282550712831 1.413609 55 83 0.00624858 GO Biological Process intrinsic apoptotic signaling pathway in response to DNA damage 224 1.773716e-16 1.0419789662500001e-14 2.207092 136 0.0096873 716 0.029594903434357542 1.39126 45 69 0.005112474 GO Biological Process viral RNA genome replication 253 1.083161e-15 5.6337215806324114e-14 3.593714 57 0.004060118 884 0.04910450547511312 1.828513 12 14 0.001363327 GO Biological Process regulation of cholesterol metabolic process 275 3.282732e-15 1.5708171050181818e-13 2.298474 114 0.008120236 712 0.02926757506460674 1.44901 36 53 0.00408998 GO Biological Process nuclear-transcribed mRNA catabolic process, nonsense-mediated decay 288 6.541357e-15 2.9888096098263893e-13 2.00373 153 0.01089821 807 0.040308397686493184 1.283575 71 118 0.008066349 GO Biological Process translational elongation 293 8.129156e-15 3.65090661447099e-13 2.003283 152 0.01082698 769 0.03746307408582575 1.295197 68 112 0.007725517 GO Biological Process cotranslational protein targeting to membrane 304 1.624573e-14 7.032156614144737e-13 2.095133 133 0.009473609 524 0.00947133088053435 1.371385 63 98 0.007157464 GO Cellular Component zonula adherens 78 7.759158e-13 1.718951926153846e-11 4.380175 36 0.002564285 125 0.032176645632000005 2.133265 8 8 0.0009088843 GO Cellular Component DNA-directed RNA polymerase I complex 187 0.000002232088 0.00002062592547593583 2.933007 26 0.001851984 92 0.007804581495652174 1.980889 13 14 0.001476937 GO Molecular Function unfolded protein binding 16 3.120049e-17 8.23302929875e-15 2.172819 148 0.01054206 88 0.02431041513409091 1.348385 67 106 0.007611906 Human Phenotype Abnormality of coagulation 56 7.306042e-13 8.705931833214286e-11 2.110203 114 0.008120236 110 0.025778241844545455 1.468806 42 61 0.004771643 Human Phenotype Abnormality of the coagulation cascade 83 1.823117e-11 1.4657421374698797e-9 2.074517 104 0.007407935 67 0.011102597158208957 1.558925 38 52 0.004317201 Human Phenotype Tarsal synostosis 219 3.714449e-7 0.000011318044829680364 2.029823 62 0.004416269 68 0.011003806439705882 2.133265 12 12 0.001363327 Human Phenotype Abnormality of DNA repair 480 0.0001540587 0.002141736885625 2.068287 32 0.002279365 94 0.016992510542553192 2.133265 11 11 0.001249716 Mouse Phenotype Single KO extramedullary hematopoiesis 8 2.784852e-38 3.1876112205e-35 2.365127 290 0.02065674 133 0.0004398956015864662 1.44089 77 114 0.008748012 Mouse Phenotype Single KO decreased percent body fat/body weight 20 1.225003e-27 5.6086762355e-25 2.19129 242 0.01723769 327 0.026859556026605502 1.393733 49 75 0.005566917 Mouse Phenotype Single KO abnormal branching of the mammary ductal tree 41 3.071611e-21 6.860180957804877e-19 2.270196 169 0.01203789 234 0.008147749896581196 1.628018 29 38 0.003294706 Mouse Phenotype Single KO pale liver 86 1.500719e-16 1.5979167305813952e-14 2.026677 167 0.01189543 261 0.012710979054022988 1.413288 53 80 0.006021359 Mouse Phenotype Single KO abnormal hair texture 102 1.454338e-15 1.305624810392157e-13 2.031719 155 0.01104067 407 0.04525803377395578 1.422177 38 57 0.004317201 Mouse Phenotype Single KO abnormal splenocyte apoptosis 550 0.000001427266 0.000023762681385454547 2.103008 51 0.003632737 243 0.009751741497530865 1.896236 16 18 0.001817769 Mouse Phenotype Single KO abnormal intestinal lipid absorption 594 0.000003313332 0.000051077746000000006 2.109237 47 0.003347817 396 0.04092797458333333 1.640973 20 26 0.002272211 Mouse Phenotype extramedullary hematopoiesis 7 2.115406e-47 2.8893423951428567e-44 2.120366 457 0.03255218 106 0.000006136736869811321 1.42624 117 175 0.01329243 Mouse Phenotype thick epidermis 24 2.398172e-35 9.553717705e-33 2.133168 333 0.02371964 275 0.0020553851883272725 1.385711 76 117 0.008634401 Mouse Phenotype absent somites 94 1.489952e-19 1.515471390638298e-17 2.302052 150 0.01068452 328 0.0040987802954268295 1.567297 36 49 0.00408998 Mouse Phenotype early cellular replicative senescence 133 2.930017e-17 2.1063077095488727e-15 2.149155 152 0.01082698 334 0.004359403789221557 1.461141 50 73 0.005680527 Mouse Phenotype abnormal cellular replicative senescence 150 2.039367e-16 1.2998925257999999e-14 2.039146 163 0.01161051 481 0.019106577172765073 1.371385 54 84 0.006134969 Mouse Phenotype dry eyes 180 3.402548e-15 1.8073200793333332e-13 2.844068 77 0.005484721 307 0.003220826838762215 1.999936 15 16 0.001704158 Mouse Phenotype increased urine magnesium level 220 8.178971e-14 3.5545064423181816e-12 3.874162 45 0.003205357 654 0.04717183958715596 1.939332 10 11 0.001136105 Mouse Phenotype spontaneous skin ulceration 223 1.35618e-13 5.814545730941703e-12 2.292327 101 0.007194245 617 0.040511196675850895 1.493286 28 40 0.003181095 Mouse Phenotype increased liver adenoma incidence 384 2.868958e-10 7.1432571453125006e-9 2.488344 62 0.004416269 604 0.03718415365231788 1.599949 21 28 0.002385821 Mouse Phenotype conotruncal ridge hypoplasia 400 6.091496e-10 1.4560198314e-8 2.209962 76 0.005413491 654 0.04717183958715596 1.939332 10 11 0.001136105 Mouse Phenotype increased cellular sensitivity to oxidative stress 401 6.647038e-10 1.5848461425935162e-8 2.090016 86 0.006125792 562 0.03060511826156584 1.46662 33 48 0.003749148 Mouse Phenotype echinocytosis 559 5.217917e-8 8.924598289266547e-7 3.399187 28 0.001994444 499 0.020895613400801604 2.133265 9 9 0.001022495