# 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 DNA-templated transcription in response to stress 15 5.441864e-52 4.773965891733333e-49 2.684409 315 0.02096785 960 0.04552641161666667 1.253893 75 119 0.007946599 GO Biological Process regulation of gene expression, epigenetic 22 7.171754e-47 4.289686858454546e-44 2.072995 477 0.03175131 616 0.009738777233279221 1.211355 151 248 0.01599915 GO Biological Process regulation of intrinsic apoptotic signaling pathway 50 1.877201e-35 4.9404175918000004e-33 2.136969 333 0.02216601 689 0.014208906762409289 1.257884 98 155 0.01038356 GO Biological Process gene silencing 55 1.125966e-34 2.693924835272727e-32 2.146744 322 0.0214338 618 0.00973158939983819 1.24897 113 180 0.01197288 GO Biological Process mitochondrial membrane organization 72 4.735764e-33 8.655266455e-31 2.169557 299 0.01990282 237 0.00001755251803628692 1.444 90 124 0.009535919 GO Biological Process regulation of megakaryocyte differentiation 100 5.816175e-29 7.6535046825e-27 2.489611 196 0.01304666 443 0.0020892639353724605 1.439777 55 76 0.005827506 GO Biological Process cellular response to topologically incorrect protein 120 2.569653e-25 2.81783865225e-23 2.065645 253 0.01684084 775 0.021582644708387097 1.259546 88 139 0.009324009 GO Biological Process endoplasmic reticulum unfolded protein response 122 3.492345e-25 3.766866217622951e-23 2.201882 217 0.01444452 860 0.031185713015116277 1.273985 73 114 0.00773469 GO Biological Process regulation of mitochondrial membrane permeability 145 1.868792e-22 1.695960960551724e-20 2.238864 185 0.01231445 453 0.002390381151589404 1.444439 53 73 0.005615597 GO Biological Process erythrocyte homeostasis 154 6.464993e-22 5.524210577077922e-20 2.101369 208 0.01384544 575 0.007119174619478262 1.395241 54 77 0.005721551 GO Biological Process coronary artery morphogenesis 157 9.877951e-22 8.279232943248408e-20 3.512178 84 0.005591426 861 0.03123772369337979 1.98951 9 9 0.0009535919 GO Biological Process regulation of receptor catabolic process 160 1.217183e-21 1.0010569435625e-19 4.461421 63 0.00419357 861 0.03123772369337979 1.98951 9 9 0.0009535919 GO Biological Process cellular response to unfolded protein 166 2.89632e-21 2.295944269879518e-19 2.015233 223 0.01484391 858 0.030898927030303034 1.266052 77 121 0.008158508 GO Biological Process regulation of membrane permeability 171 4.545838e-21 3.498168552163742e-19 2.107279 198 0.01317979 520 0.004669213031153846 1.400026 57 81 0.006039415 GO Biological Process viral gene expression 184 1.38083e-20 9.875185853260869e-19 2.117039 191 0.01271384 419 0.0015319199027207637 1.347228 86 127 0.0091121 GO Biological Process regulation of posttranscriptional gene silencing 201 2.647709e-19 1.7333931706965173e-17 2.018211 200 0.01331292 761 0.020500978455978976 1.29592 71 109 0.00752278 GO Biological Process regulation of gene silencing by RNA 201 2.647709e-19 1.7333931706965173e-17 2.018211 200 0.01331292 761 0.020500978455978976 1.29592 71 109 0.00752278 GO Biological Process regulation of gene silencing by miRNA 212 7.608271e-19 4.7225112306132075e-17 2.017451 195 0.0129801 799 0.02335070314267835 1.295059 69 106 0.007310871 GO Biological Process erythrocyte differentiation 217 9.327851e-19 5.656460428986175e-17 2.056404 185 0.01231445 721 0.01609803253578363 1.384007 48 69 0.005085823 GO Biological Process translational elongation 218 9.997646e-19 6.034817601559633e-17 2.118394 172 0.01144911 250 0.000030188204017199998 1.456606 82 112 0.008688281 GO Cellular Component chromosome, telomeric region 41 1.200014e-28 5.057619980487804e-27 2.13435 267 0.01777275 121 0.0439386985785124 1.21515 102 167 0.01080737 GO Cellular Component ribosomal subunit 42 1.371941e-28 5.6445572571428566e-27 2.102297 276 0.01837183 65 0.0002867674486153846 1.312002 122 185 0.01292647 GO Cellular Component nuclear chromosome, telomeric region 45 5.408191e-26 2.076745344e-24 2.23615 217 0.01444452 136 0.04993728141176471 1.235908 82 132 0.008688281 GO Cellular Component ficolin-1-rich granule lumen 60 2.870496e-21 8.267028480000001e-20 2.033728 218 0.01451108 83 0.0025453377542168677 1.331688 83 124 0.008794236 GO Cellular Component mitochondrial ribosome 76 1.378769e-17 3.134885305263158e-16 2.459789 117 0.007788058 118 0.03766356122033898 1.310736 56 85 0.00593346 GO Cellular Component small ribosomal subunit 77 1.614981e-17 3.62426904935065e-16 2.363576 126 0.00838714 131 0.04686758106870229 1.32634 48 72 0.005085823 GO Cellular Component mitochondrial large ribosomal subunit 129 4.064606e-10 5.444681525581395e-9 2.36989 67 0.004459828 117 0.03772639015384616 1.40436 36 51 0.003814367 GO Molecular Function ribonucleoprotein complex binding 20 7.777103e-21 1.6417464433e-18 2.083397 201 0.01337948 70 0.0002052593455142857 1.418607 82 115 0.008688281 GO Molecular Function 1-acylglycerol-3-phosphate O-acyltransferase activity 57 3.715475e-12 2.752058850877193e-10 2.46274 77 0.005125474 87 0.0020108095135632185 1.884799 18 19 0.001907184 GO Molecular Function lysophosphatidic acid acyltransferase activity 61 5.560048e-12 3.8482824026229507e-10 2.441414 77 0.005125474 101 0.009101173110891089 1.790559 18 20 0.001907184 GO Molecular Function cAMP response element binding 194 0.000004263489 0.0000927858276185567 2.217237 41 0.002729149 98 0.005607957663265306 1.98951 13 13 0.00137741 Human Phenotype Abnormal concentration of calcium in blood 67 4.047939e-10 4.03162641e-8 2.092475 88 0.005857685 24 0.02838861025 1.591608 32 40 0.003390549 Mouse Phenotype Single KO abnormal platelet activation 17 4.24848e-51 2.2884312564705882e-48 2.755899 296 0.01970312 135 0.00039687421529629633 1.474578 63 85 0.006675143 Mouse Phenotype Single KO abnormal platelet aggregation 19 6.711949e-49 3.2348061575263156e-46 2.749461 284 0.01890435 147 0.0007181143653061225 1.47938 58 78 0.00614537 Mouse Phenotype Single KO abnormal platelet physiology 23 6.403341e-44 2.5493649363913043e-41 2.319819 348 0.02316448 139 0.0005411306092805756 1.410744 78 110 0.008264463 Mouse Phenotype Single KO abnormal erythropoiesis 30 5.117885e-43 1.5621490981666668e-40 2.162599 396 0.02635958 76 0.000018759789267105263 1.48309 82 110 0.008688281 Mouse Phenotype Single KO decreased platelet aggregation 39 6.718211e-38 1.5774014904358974e-35 2.863351 204 0.01357918 247 0.008331112745748987 1.458974 44 60 0.004662005 Mouse Phenotype Single KO abnormal embryonic hematopoiesis 46 7.931253e-35 1.578836602630435e-32 2.436588 248 0.01650802 350 0.03206056688857143 1.426441 38 53 0.004026277 Mouse Phenotype Single KO extramedullary hematopoiesis 58 5.35233e-32 8.45022169137931e-30 2.179727 286 0.01903748 188 0.0030435028355851063 1.361244 78 114 0.008264463 Mouse Phenotype Single KO abnormal circulating interferon level 135 4.970714e-18 3.3716168961481483e-16 2.129437 163 0.01085003 288 0.017942464263541666 1.348446 61 90 0.006463234 Mouse Phenotype Single KO abnormal interleukin-1 beta secretion 164 4.547049e-16 2.5388614446951218e-14 2.015289 164 0.01091659 297 0.019246771484511784 1.392657 49 70 0.005191778 Mouse Phenotype Single KO decreased inguinal fat pad weight 165 4.944814e-16 2.7442219271515156e-14 2.604222 95 0.006323637 319 0.023641157948589342 1.621083 22 27 0.002331002 Mouse Phenotype Single KO increased circulating interferon-gamma level 168 9.708983e-16 5.2919736506547625e-14 2.545427 97 0.006456766 341 0.028494543143695015 1.480566 32 43 0.003390549 Mouse Phenotype Single KO decreased T cell apoptosis 233 6.412276e-13 2.520051988497854e-11 2.173973 107 0.007122412 172 0.001758351097267442 1.724242 26 30 0.002754821 Mouse Phenotype Single KO increased mean platelet volume 242 9.866392e-13 3.733328576198347e-11 2.063001 119 0.007921188 341 0.028494543143695015 1.480566 32 43 0.003390549 Mouse Phenotype abnormal platelet activation 14 2.924586e-53 1.9972833390000002e-50 2.723812 315 0.02096785 217 0.0003337388214746544 1.432448 72 100 0.007628735 Mouse Phenotype abnormal platelet aggregation 16 1.117909e-52 6.680204968125e-50 2.731446 310 0.02063503 229 0.00043271081947598256 1.43922 68 94 0.007204916 Mouse Phenotype abnormal platelet physiology 25 8.612742e-49 3.29385705048e-46 2.304736 393 0.02615989 166 0.00004246439242951807 1.416773 94 132 0.009959737 Mouse Phenotype abnormal erythropoiesis 32 1.316225e-46 3.9326335078125e-44 2.0753 473 0.03148506 80 1.3303055887500002e-7 1.482119 111 149 0.01176097 Mouse Phenotype decreased platelet aggregation 54 1.51653e-38 2.6851006166666666e-36 2.763748 220 0.01464421 479 0.014747307563048016 1.381605 50 72 0.005297733 Mouse Phenotype decreased erythroid progenitor cell number 71 6.410396e-33 8.632365655774647e-31 2.181871 294 0.01956999 509 0.01891126353831041 1.361244 52 76 0.005509642 Mouse Phenotype abnormal embryonic hematopoiesis 80 3.087673e-30 3.6901551941250003e-28 2.219134 259 0.01724023 628 0.03790019983757962 1.369827 42 61 0.004450095 Mouse Phenotype increased circulating interferon-gamma level 125 1.025814e-21 7.8462461232e-20 2.758485 120 0.007987752 375 0.0059061585984 1.492133 39 52 0.004132231 Mouse Phenotype abnormal circulating interferon level 153 3.929072e-19 2.455284796862745e-17 2.039233 193 0.01284697 577 0.028354379979202777 1.284139 71 110 0.00752278 Mouse Phenotype abnormal circulating interferon-gamma level 166 6.27352e-18 3.61332076626506e-16 2.16467 156 0.01038408 554 0.024567334662454875 1.32634 58 87 0.00614537 Mouse Phenotype increased interleukin-1 beta secretion 206 2.27145e-15 1.0542394878640775e-13 2.113323 139 0.00925248 631 0.0387044886703645 1.40436 36 51 0.003814367 Mouse Phenotype decreased inguinal fat pad weight 243 7.069794e-14 2.7816584540740737e-12 2.191465 114 0.007588365 356 0.004816823742977528 1.627781 27 33 0.002860776 Mouse Phenotype enlarged liver sinusoidal spaces 267 5.472413e-13 1.9596157562921352e-11 2.040961 125 0.008320575 487 0.015782358405954825 1.504264 31 41 0.003284594 Mouse Phenotype abnormal thymus corticomedullary boundary morphology 358 1.113207e-10 2.973008974022346e-9 2.16092 87 0.00579112 430 0.010714814809534883 1.604444 25 31 0.002648866 Mouse Phenotype abnormal platelet shape 537 4.932747e-8 8.782494239664804e-7 2.77643 38 0.002529455 512 0.019175239083984375 1.98951 10 10 0.001059547 Mouse Phenotype decreased cellular sensitivity to ultraviolet irradiation 599 2.002943e-7 0.0000031970180338898163 2.704929 36 0.002396326 436 0.011424848970412845 1.856876 14 15 0.001483365 Mouse Phenotype myelofibrosis 671 0.00000100495 0.000014319414232488823 2.645122 33 0.002196632 604 0.03235385413907285 1.98951 9 9 0.0009535919 Mouse Phenotype increased platelet aggregation 735 0.000003225297 0.00004195518995510204 2.07492 49 0.003261665 669 0.04773048422421525 1.823718 11 12 0.001165501