# 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 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay 72 1.560457e-37 2.851951897638889e-35 2.509813 254 0.01365078 778 0.024132675736503857 1.233881 85 118 0.007754059 GO Biological Process regulation of transcription from RNA polymerase II promoter in response to stress 102 2.970788e-30 3.83260777372549e-28 2.155886 277 0.01488687 503 0.0034681159284294235 1.288478 85 113 0.007754059 GO Biological Process regulation of DNA-templated transcription in response to stress 122 8.636746e-27 9.31565087e-25 2.002219 291 0.01563928 570 0.00654286257368421 1.266695 88 119 0.008027732 GO Biological Process gene silencing by miRNA 174 2.126076e-20 1.6078755220689654e-18 2.421882 142 0.007631537 696 0.016097710987068962 1.401478 36 44 0.003284072 GO Biological Process adherens junction assembly 175 2.320687e-20 1.745024013314286e-18 2.302169 157 0.008437685 891 0.040131538407407415 1.410638 28 34 0.002554278 GO Biological Process posttranscriptional gene silencing by RNA 198 7.952829e-19 5.285418020757576e-17 2.231618 154 0.008276455 835 0.03340340445269461 1.343465 40 51 0.003648969 GO Biological Process cellular response to glucose starvation 257 3.144119e-16 1.6098623315564204e-14 2.221528 132 0.007094104 434 0.001360430480483871 1.527737 33 37 0.0030104 GO Biological Process axonal transport 348 5.338192e-14 2.0185421990804596e-12 2.193493 115 0.00618047 617 0.009036022973095624 1.449392 33 39 0.0030104 GO Biological Process positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay 361 1.029721e-13 3.753489927700831e-12 2.46908 88 0.004729403 845 0.0350595003408284 1.60586 15 16 0.001368363 GO Biological Process positive regulation of transcription from RNA polymerase II promoter in response to stress 363 1.066244e-13 3.865207932782369e-12 2.616101 79 0.004245714 839 0.0341811533921335 1.498803 21 24 0.001915709 GO Biological Process termination of RNA polymerase II transcription 392 6.739172e-13 2.262264396632653e-11 2.083686 118 0.006341699 867 0.03678456539215687 1.290894 52 69 0.00474366 GO Biological Process positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway 393 6.918687e-13 2.3166158329007632e-11 2.068396 120 0.006449186 912 0.04407217474342106 1.388852 30 37 0.002736727 GO Biological Process axo-dendritic transport 406 1.411307e-12 4.574233697783251e-11 2.005712 126 0.006771645 489 0.003066776261554192 1.452256 39 46 0.003557745 GO Biological Process endoplasmic reticulum organization 456 1.320485e-11 3.810583797149123e-10 2.04026 110 0.005911754 572 0.006634045435314685 1.45598 34 40 0.003101624 GO Biological Process positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway 475 2.236229e-11 6.195060507578949e-10 2.051742 106 0.005696781 750 0.022312786397333334 1.476653 25 29 0.002280606 GO Biological Process regulation of cardiac muscle cell apoptotic process 603 1.251546e-9 2.7311930039800994e-8 2.042807 88 0.004729403 823 0.03032866493560146 1.468215 24 28 0.002189381 GO Biological Process anterograde axonal transport 638 3.334287e-9 6.877097591379311e-8 2.173139 72 0.003869511 855 0.0358531345251462 1.43664 26 31 0.00237183 GO Biological Process maintenance of protein location in nucleus 699 1.131818e-8 2.1307000088698142e-7 2.561941 48 0.002579674 845 0.0350595003408284 1.60586 15 16 0.001368363 GO Biological Process negative regulation of muscle adaptation 880 4.136982e-7 0.000006186198424772727 2.07925 58 0.003117106 883 0.039925866455266135 1.712917 11 11 0.001003467 GO Biological Process endoplasmic reticulum tubular network organization 1540 0.0001399425 0.001195781400974026 2.053686 33 0.001773526 791 0.026008821725663718 1.712917 12 12 0.001094691 GO Cellular Component axon cytoplasm 75 1.577839e-14 3.635341056e-13 2.218084 117 0.006287956 100 0.00498305088 1.45598 34 40 0.003101624 GO Cellular Component endoplasmic reticulum subcompartment 110 3.700209e-11 5.812691956363637e-10 2.4768 69 0.003708282 115 0.014444463193043478 1.557198 20 22 0.001824485 GO Cellular Component precatalytic spliceosome 163 5.545201e-8 5.878593452760737e-7 2.377393 50 0.002687161 132 0.024831333818181818 1.468215 24 28 0.002189381 GO Cellular Component BLOC complex 228 0.000007690077 0.000058282688842105266 2.040394 47 0.002525931 109 0.009679699552293579 1.563968 21 23 0.001915709 GO Molecular Function NF-kappaB binding 61 3.192468e-12 2.209606540327869e-10 2.423043 80 0.004299457 101 0.016568239932673267 1.52939 25 28 0.002280606 GO Molecular Function fatty-acyl-CoA binding 134 6.969844e-8 0.0000021960209976119403 2.461444 46 0.002472188 118 0.04970263628813559 1.612158 16 17 0.001459588 Human Phenotype Increased variability in muscle fiber diameter 164 7.892171e-8 0.0000032112473831097567 2.035258 69 0.003708282 73 0.029332277572602736 1.627271 19 20 0.00173326 Mouse Phenotype Single KO abnormal liver sinusoid morphology 49 6.72277e-22 1.2563347936734694e-19 2.081292 213 0.0114473 663 0.033302020149321265 1.297665 50 66 0.004561211 Mouse Phenotype Single KO increased integument system tumor incidence 67 1.784264e-19 2.4385829026865673e-17 2.069908 190 0.01021121 754 0.048403234049071625 1.26215 56 76 0.005108557 Mouse Phenotype Single KO increased squamous cell carcinoma incidence 79 2.233076e-17 2.588389485063291e-15 2.725955 96 0.005159349 527 0.01628621623263757 1.515273 23 26 0.002098157 Mouse Phenotype Single KO abnormal lymph organ development 210 1.39531e-10 6.0842160333333325e-9 2.162223 86 0.004621916 515 0.015194697287961165 1.617755 17 18 0.001550812 Mouse Phenotype Single KO abnormal pharynx morphology 258 1.825569e-9 6.479354780232558e-8 2.064472 84 0.00451443 528 0.016671504747727273 1.557198 20 22 0.001824485 Mouse Phenotype Single KO intestine polyps 330 2.922534e-8 8.109589041818183e-7 3.322946 30 0.001612296 674 0.03639866741839763 1.712917 11 11 0.001003467 Mouse Phenotype Single KO absent stapedial artery 415 2.58058e-7 0.000005694065315662651 2.195773 53 0.00284839 647 0.031863133112828436 1.60586 15 16 0.001368363 Mouse Phenotype Single KO abnormal stapedial artery morphology 416 2.591686e-7 0.000005704824207211539 2.17719 54 0.002902134 574 0.022160753601045295 1.612158 16 17 0.001459588 Mouse Phenotype Single KO double ureter 471 6.98083e-7 0.000013571859938428874 2.089369 55 0.002955877 674 0.03639866741839763 1.712917 11 11 0.001003467 Mouse Phenotype Single KO gastrointestinal tract polyps 506 0.000001310084 0.00002370837784189723 2.421211 38 0.002042242 522 0.01600377661072797 1.712917 13 13 0.001185915 Mouse Phenotype early cellular replicative senescence 22 8.887695e-35 3.8625114497727275e-32 2.506986 235 0.01262966 830 0.021347558895180724 1.290554 55 73 0.005017333 Mouse Phenotype abnormal cellular replicative senescence 28 2.308531e-33 7.882808889642857e-31 2.36916 251 0.01348955 1022 0.04446461860861057 1.243904 61 84 0.005564678 Mouse Phenotype abnormal liver sinusoid morphology 36 8.705825e-31 2.3121220229166664e-28 2.127153 291 0.01563928 509 0.0033886813744597247 1.339589 61 78 0.005564678 Mouse Phenotype enlarged liver sinusoidal spaces 86 1.684738e-21 1.872997676511628e-19 2.267428 172 0.009243833 874 0.026152430838672767 1.37869 33 41 0.0030104 Mouse Phenotype increased squamous cell carcinoma incidence 126 3.15652e-17 2.3951974380952386e-15 2.026272 175 0.009405063 502 0.0031617122342629486 1.416451 43 52 0.003922642 Mouse Phenotype colon polyps 178 9.730338e-15 5.226503461685394e-13 3.105212 65 0.003493309 959 0.03625499296767466 1.598723 14 15 0.001277139 Mouse Phenotype tachypnea 180 1.647763e-14 8.752367801666667e-13 2.950835 69 0.003708282 1080 0.0501566873 1.522593 16 18 0.001459588 Mouse Phenotype increased circulating erythropoietin level 278 3.074081e-11 1.0572405914028777e-9 2.352285 77 0.004138228 774 0.017159536810077522 1.612158 16 17 0.001459588 Mouse Phenotype abnormal circulating erythropoietin level 294 5.998186e-11 1.9506345695918366e-9 2.317454 77 0.004138228 1080 0.0501566873 1.522593 16 18 0.001459588 Mouse Phenotype abnormal small intestinal crypt cell proliferation 322 1.813501e-10 5.384746292236025e-9 2.274021 76 0.004084484 1031 0.046075061778855474 1.479338 19 22 0.00173326 Mouse Phenotype increased lactate dehydrogenase level 331 2.273926e-10 6.5682799051359516e-9 2.079611 92 0.004944376 952 0.03401607960189076 1.427431 25 30 0.002280606 Mouse Phenotype absent ductus venosus valve 364 6.547291e-10 1.7197431112912086e-8 2.081462 87 0.00467566 1031 0.046075061778855474 1.479338 19 22 0.00173326 Mouse Phenotype increased skin squamous cell carcinoma incidence 397 2.814361e-9 6.777860332745593e-8 2.487499 55 0.002955877 1080 0.0501566873 1.522593 16 18 0.001459588 Mouse Phenotype abnormal pancreatic islet cell apoptosis 496 4.470499e-8 8.617427608669355e-7 2.500639 46 0.002472188 1080 0.0501566873 1.522593 16 18 0.001459588 Mouse Phenotype hemorrhagic ascites 536 1.118199e-7 0.0000019946083281716416 2.393639 47 0.002525931 890 0.028780973393258427 1.712917 11 11 0.001003467 Mouse Phenotype intermingled spleen red and white pulp 637 7.096788e-7 0.000010651866572684458 2.121181 53 0.00284839 1031 0.046075061778855474 1.479338 19 22 0.00173326