# 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 gene expression, epigenetic 36 1.867148e-76 6.824944592222222e-74 2.072567 792 0.03174476 474 0.003908353479535865 1.193483 173 248 0.0157631 GO Biological Process endoplasmic reticulum unfolded protein response 86 6.73961e-55 1.0312386975581395e-52 2.437871 399 0.01599262 222 0.0000068073700166666665 1.395725 93 114 0.008473804 GO Biological Process cellular response to topologically incorrect protein 94 6.17541e-53 8.644917041489361e-51 2.241834 456 0.01827729 269 0.00006360757307063197 1.329323 108 139 0.009840547 GO Biological Process response to topologically incorrect protein 106 1.049053e-49 1.302310228962264e-47 2.016032 547 0.02192473 248 0.00002444850935967742 1.302176 137 180 0.01248292 GO Biological Process cellular response to unfolded protein 110 4.794921e-49 5.736033221727274e-47 2.25825 415 0.01663393 219 0.000006351645005022831 1.385678 98 121 0.008929385 GO Biological Process mitochondrial membrane organization 115 1.917656e-46 2.1942987220869566e-44 2.075377 475 0.01903884 363 0.0005830140263360882 1.310761 95 124 0.008656036 GO Biological Process response to unfolded protein 116 2.806468e-46 3.183647621724138e-44 2.019577 506 0.02028137 187 0.0000010811455510695186 1.358018 127 160 0.01157175 GO Biological Process regulation of membrane permeability 151 1.293893e-39 1.1275720521192052e-37 2.217361 346 0.01386829 377 0.000923297919071618 1.372935 65 81 0.005922551 GO Biological Process regulation of mitochondrial membrane permeability 166 2.017182e-37 1.5990420444578314e-35 2.266313 311 0.01246543 397 0.001381917410302267 1.382773 59 73 0.005375854 GO Biological Process IRE1-mediated unfolded protein response 176 5.531657e-36 4.135856503579545e-34 2.799462 201 0.008056435 428 0.002121669843271028 1.415908 48 58 0.004373576 GO Biological Process nuclear-transcribed mRNA catabolic process, nonsense-mediated decay 237 1.32288e-29 7.345053974683545e-28 2.107642 286 0.01146339 560 0.009005923257321427 1.261418 87 118 0.007927107 GO Biological Process viral gene expression 249 4.057602e-28 2.1443367356626508e-26 2.015607 302 0.01210469 327 0.0002758938072874618 1.320213 98 127 0.008929385 GO Biological Process mitochondrial transmembrane transport 270 6.474165e-27 3.155316193888889e-25 2.145287 248 0.009940278 732 0.02652351050273224 1.278013 62 83 0.005649203 GO Biological Process negative regulation of G0 to G1 transition 302 1.019027e-24 4.440190825496689e-23 2.330815 189 0.007575454 618 0.013586995410355986 1.440748 32 38 0.002915718 GO Biological Process anterograde synaptic vesicle transport 303 1.065937e-24 4.629262370627063e-23 4.006861 82 0.003286705 450 0.003155034006444444 1.710888 17 17 0.001548975 GO Biological Process cotranslational protein targeting to membrane 306 1.211261e-24 5.2088181369281047e-23 2.100832 237 0.009499379 411 0.0017135051081508517 1.326811 76 98 0.006924829 GO Biological Process positive regulation of mRNA metabolic process 335 4.382261e-23 1.7213782835522388e-21 2.125138 215 0.00861758 485 0.004674217886185567 1.414773 43 52 0.003917995 GO Biological Process actin polymerization or depolymerization 346 8.880866e-23 3.377552476705202e-21 2.160453 204 0.00817668 366 0.0006984700125409836 1.511948 38 43 0.003462415 GO Biological Process negative regulation of histone methylation 356 1.890247e-22 6.98701131264045e-21 2.590602 139 0.005571366 719 0.02587319285674548 1.610248 16 17 0.001457859 GO Biological Process regulation of G0 to G1 transition 358 3.259774e-22 1.198194582849162e-20 2.197836 191 0.007655617 746 0.030891034730563004 1.385005 34 42 0.00309795 GO Cellular Component ribosomal subunit 49 1.968742e-39 6.942828930612245e-38 2.004333 437 0.01751573 106 0.0008248653645283019 1.239238 134 185 0.01220957 GO Cellular Component PcG protein complex 60 1.194573e-34 3.4403702400000004e-33 2.424545 250 0.01002044 180 0.0371522976 1.338956 36 46 0.003280182 GO Cellular Component large ribosomal subunit 81 8.494048e-26 1.8120635733333334e-24 2.037939 268 0.01074191 187 0.048159683422459895 1.205061 81 115 0.00738041 GO Cellular Component intrinsic component of mitochondrial membrane 92 1.016984e-22 1.910161252173913e-21 2.144143 207 0.008296926 95 0.0003524043183157895 1.421353 54 65 0.004920273 GO Cellular Component integral component of mitochondrial membrane 97 1.019475e-21 1.8161369072164946e-20 2.117372 203 0.008136599 100 0.00047964804479999997 1.416829 53 64 0.004829157 GO Cellular Component BLOC-1 complex 101 1.126496e-20 1.9273119683168316e-19 3.604965 77 0.003086296 141 0.010670727217021277 1.615839 17 18 0.001548975 GO Cellular Component mitochondrial intermembrane space 104 2.670856e-20 4.437729969230769e-19 2.066218 200 0.008016353 151 0.012880889642384106 1.294134 59 78 0.005375854 GO Cellular Component axon cytoplasm 111 6.170988e-19 9.606727264864864e-18 2.219806 157 0.006292837 177 0.03346247593220339 1.368711 32 40 0.002915718 GO Cellular Component BLOC complex 117 1.286759e-17 1.9004440615384614e-16 2.881572 89 0.003567277 138 0.007815170504347825 1.562115 21 23 0.00191344 GO Cellular Component podosome 128 3.671336e-16 4.9563036e-15 2.12169 146 0.005851938 153 0.014707007999999999 1.474904 25 29 0.002277904 GO Cellular Component RISC complex 288 0.000003025685 0.000018154109999999997 2.137193 46 0.001843761 183 0.04386677193442623 1.710888 10 10 0.0009111617 GO Cellular Component AP-3 adaptor complex 330 0.00002244807 0.00011754625745454545 2.301321 32 0.001282617 183 0.04386677193442623 1.710888 10 10 0.0009111617 GO Molecular Function ribonucleoprotein complex binding 15 3.800873e-39 1.0698190537333334e-36 2.190719 351 0.0140687 67 0.00004779811270149253 1.368711 92 115 0.008382688 GO Molecular Function rRNA binding 28 1.114734e-24 1.6808596242857144e-22 2.770679 137 0.005491202 126 0.032124876323809524 1.340196 47 60 0.00428246 GO Molecular Function cAMP response element binding 34 3.428373e-23 4.2572325900000004e-21 3.256355 100 0.004008177 125 0.0312927074176 1.710888 13 13 0.00118451 GO Molecular Function ribosomal small subunit binding 83 4.009997e-14 2.0397840161445783e-12 2.708853 77 0.003086296 115 0.019870997194782608 1.710888 14 14 0.001275626 GO Molecular Function transcription factor activity, transcription factor recruiting 189 5.776508e-9 1.290392422010582e-7 2.06155 79 0.00316646 115 0.019870997194782608 1.710888 14 14 0.001275626 Mouse Phenotype Single KO abnormal erythropoiesis 34 7.416703e-67 1.9974926285588237e-64 2.130882 648 0.02597298 66 4.3649545977272726e-7 1.446478 93 110 0.008473804 Mouse Phenotype Single KO abnormal embryonic hematopoiesis 38 1.118707e-64 2.6957894734210525e-62 2.555746 432 0.01731532 103 0.00002271232046699029 1.549484 48 53 0.004373576 Mouse Phenotype Single KO decreased erythroid progenitor cell number 39 1.233208e-62 2.895509142564102e-60 2.536102 424 0.01699467 148 0.00021727803845945947 1.509607 45 51 0.004100228 Mouse Phenotype Single KO abnormal embryonic erythrocyte morphology 40 3.284543e-62 7.51914006275e-60 3.30508 276 0.01106257 341 0.013707870565102639 1.466476 30 35 0.002733485 Mouse Phenotype Single KO abnormal embryonic erythropoiesis 41 1.444398e-61 3.2259396307317073e-59 3.476275 255 0.01022085 401 0.029735884615960096 1.474904 25 29 0.002277904 Mouse Phenotype Single KO abnormal platelet physiology 73 6.413316e-47 8.044758166027398e-45 2.031089 506 0.02028137 306 0.009158173053594771 1.27539 82 110 0.007471526 Mouse Phenotype Single KO abnormal platelet aggregation 75 4.185569e-46 5.110300711066667e-44 2.261853 388 0.01555173 494 0.046152688769230774 1.272199 58 78 0.005284738 Mouse Phenotype Single KO pancytopenia 81 8.439946e-44 9.5413068545679e-42 4.156969 144 0.005771774 480 0.0436570276625 1.603958 15 16 0.001366743 Mouse Phenotype Single KO reticulocytosis 152 3.00463e-27 1.810091901973684e-25 2.035405 285 0.0114233 454 0.038565391266519825 1.295387 53 70 0.004829157 Mouse Phenotype Single KO microcytosis 224 7.023275e-21 2.8710771953125005e-19 3.11817 95 0.003807768 422 0.033363811587677726 1.547947 19 21 0.001731207 Mouse Phenotype Single KO absent hypoglossal nerve 319 3.697698e-17 1.0614363820062695e-15 3.254566 72 0.002885887 309 0.009370049903236248 1.710888 15 15 0.001366743 Mouse Phenotype Single KO spherocytosis 331 8.49052e-17 2.3488728592145013e-15 3.572856 62 0.00248507 374 0.02268383792299465 1.710888 13 13 0.00118451 Mouse Phenotype Single KO absent segment of posterior cerebral artery 369 2.389362e-15 5.929373396747967e-14 2.495379 98 0.003928013 381 0.023588725216272963 1.555353 20 22 0.001822323 Mouse Phenotype Single KO increased cellular sensitivity to ultraviolet irradiation 389 8.332272e-15 1.961403976966581e-13 2.525873 92 0.003687523 476 0.0427925847394958 1.497027 21 24 0.00191344 Mouse Phenotype Single KO abnormal cerebral artery morphology 550 3.320686e-11 5.528640309454546e-10 2.078354 101 0.004048258 476 0.0427925847394958 1.497027 21 24 0.00191344 Mouse Phenotype Single KO multiple persisting craniopharyngeal ducts 576 6.160741e-11 9.79408078767361e-10 2.189112 87 0.003487114 309 0.009370049903236248 1.710888 15 15 0.001366743 Mouse Phenotype abnormal erythropoiesis 42 3.315207e-77 7.546831934999999e-75 2.084492 789 0.03162451 114 6.408729074473684e-7 1.377897 120 149 0.01093394 Mouse Phenotype decreased erythroid progenitor cell number 54 2.796422e-66 4.951220507777778e-64 2.34162 524 0.02100285 234 0.0001852526285128205 1.418236 63 76 0.005740319 Mouse Phenotype abnormal platelet physiology 56 1.568913e-63 2.6786387844642858e-61 2.143487 607 0.02432963 389 0.005480448766580977 1.257244 97 132 0.008838269 Mouse Phenotype abnormal embryonic erythrocyte morphology 65 1.520118e-57 2.2359766458461538e-55 3.008939 292 0.01170388 448 0.009317311878348214 1.447675 33 39 0.003006834 Mouse Phenotype abnormal embryonic hematopoiesis 66 2.927944e-57 4.24152614909091e-55 2.337144 453 0.01815704 238 0.0002419331508907563 1.458462 52 61 0.004738041 Mouse Phenotype abnormal platelet aggregation 69 6.631895e-56 9.189499723913044e-54 2.339769 441 0.01767606 732 0.047096179852459015 1.237664 68 94 0.0061959 Mouse Phenotype abnormal embryonic erythropoiesis 70 6.375178e-55 8.707582408285715e-53 3.133022 262 0.01050142 660 0.03454437105 1.434939 26 31 0.002369021 Mouse Phenotype abnormal DNA repair 129 6.537171e-38 4.845107901627907e-36 2.147768 355 0.01422903 359 0.0037488148353760444 1.276154 91 122 0.008291572 Mouse Phenotype pancytopenia 134 6.971321e-37 4.974089558283582e-35 2.976974 187 0.00749529 296 0.0012495387182432432 1.592896 27 29 0.002460137 Mouse Phenotype microcytosis 183 1.450562e-29 7.578591957377048e-28 3.489602 118 0.004729648 440 0.008594276425227273 1.568314 22 24 0.002004556 Mouse Phenotype enlarged liver sinusoidal spaces 224 1.607907e-25 6.863035190625e-24 2.192467 223 0.008938234 510 0.014278232425882354 1.418785 34 41 0.00309795 Mouse Phenotype decreased inguinal fat pad weight 299 1.980661e-20 6.333478201003344e-19 2.141436 185 0.007415127 564 0.018876482335106384 1.451663 28 33 0.002551253 Mouse Phenotype increased cellular sensitivity to ultraviolet irradiation 306 4.486807e-20 1.4019072459803921e-18 2.678878 116 0.004649485 724 0.04573302301243094 1.42574 25 30 0.002277904 Mouse Phenotype interstitial pneumonia 309 5.468456e-20 1.6920358516504858e-18 2.58486 123 0.004930057 548 0.017123754489416058 1.555353 20 22 0.001822323 Mouse Phenotype absent hypoglossal nerve 379 3.697698e-17 9.32815054828496e-16 3.254566 72 0.002885887 423 0.007146775170921986 1.710888 15 15 0.001366743 Mouse Phenotype increased number of Howell-Jolly bodies 382 4.748915e-17 1.1885962386125656e-15 2.727012 94 0.003767686 741 0.047638888914979756 1.596829 14 15 0.001275626 Mouse Phenotype absent segment of posterior cerebral artery 434 2.389362e-15 5.263753475115207e-14 2.495379 98 0.003928013 548 0.017123754489416058 1.555353 20 22 0.001822323 Mouse Phenotype spherocytosis 548 1.316366e-12 2.296674329562044e-11 2.826968 63 0.002525151 741 0.047638888914979756 1.596829 14 15 0.001275626 Mouse Phenotype macrocytosis 565 2.206358e-12 3.733626343008849e-11 2.005081 124 0.004970139 364 0.004132792156318682 1.579282 24 26 0.002186788 Mouse Phenotype abnormal cerebral artery morphology 627 3.320686e-11 5.063648938755981e-10 2.078354 101 0.004048258 647 0.032871634200927355 1.497027 21 24 0.00191344