# 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 mitochondrial transport 102 3.513152e-19 4.532310506666667e-17 2.011592 198 0.030923 226 0.0006469057561061947 1.427463 105 239 0.01816923 GO Biological Process mitochondrial membrane organization 124 8.126894e-18 8.62433856016129e-16 2.2983 135 0.02108387 330 0.005135686544848485 1.519777 58 124 0.01003634 GO Biological Process regulation of intrinsic apoptotic signaling pathway 144 7.520194e-17 6.872099503194445e-15 2.168152 144 0.02248946 479 0.01888443419791232 1.404483 67 155 0.0115937 GO Biological Process mitochondrial transmembrane transport 153 2.252806e-16 1.9375604022222222e-14 2.831278 84 0.01311885 325 0.0050392694169230775 1.644162 42 83 0.007267693 GO Biological Process macroautophagy 157 3.698829e-16 3.100184128089172e-14 2.208449 132 0.02061534 492 0.02023375982682927 1.407977 65 150 0.01124762 GO Biological Process erythrocyte homeostasis 217 3.005174e-13 1.8223541320737326e-11 2.299238 97 0.01514915 535 0.026741842781308412 1.561293 37 77 0.006402492 GO Biological Process regulation of megakaryocyte differentiation 244 2.511186e-12 1.3542908431967215e-10 2.41398 81 0.01265032 495 0.02125071367131313 1.581837 37 76 0.006402492 GO Biological Process myeloid cell homeostasis 279 8.966572e-12 4.229072435412186e-10 2.011846 115 0.01796033 276 0.0021187119957608697 1.64169 48 95 0.008305935 GO Biological Process regulation of lipid catabolic process 303 2.023562e-11 8.788136091749175e-10 2.469562 71 0.01108855 625 0.0424455861824 1.624589 28 56 0.004845129 GO Biological Process regulation of interleukin-2 production 309 2.922946e-11 1.2447587836245953e-9 2.068569 102 0.01593003 544 0.02835495998345588 1.687073 27 52 0.004672089 GO Biological Process regulation of membrane permeability 337 7.815154e-11 3.051620518872403e-9 2.172447 87 0.01358738 588 0.03666148872278912 1.524306 38 81 0.006575532 GO Biological Process organelle transport along microtubule 366 2.698942e-10 9.703655130601091e-9 2.234813 77 0.01202561 499 0.02206414887675351 1.624589 33 66 0.005710331 GO Biological Process T cell proliferation 423 1.887201e-9 5.87084585319149e-8 2.538131 54 0.008433547 470 0.01816163743148936 1.911281 20 34 0.003460806 GO Biological Process regulation of mitochondrial membrane permeability 441 3.393026e-9 1.012445105079365e-7 2.129563 75 0.01171326 578 0.03500139188235294 1.557825 35 73 0.006056411 GO Biological Process regulation of proton transport 557 6.12313e-8 0.0000014465757211849193 3.462635 27 0.004216773 500 0.022220840077999997 2.293537 12 17 0.002076484 GO Biological Process coronary vasculature morphogenesis 559 6.224658e-8 0.0000014653000826833632 2.62852 41 0.006403248 503 0.02230289348031809 2.382731 11 15 0.001903444 GO Biological Process regulation of RNA polymerase II regulatory region sequence-specific DNA binding 734 0.000001287737 0.00002308628226566757 4.20518 17 0.002655005 613 0.041000224016313216 2.599342 8 10 0.001384323 GO Biological Process positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway 751 0.00000164445 0.000028814004727030625 2.306182 41 0.006403248 599 0.03806266013522538 1.904691 17 29 0.002941685 GO Biological Process Golgi to plasma membrane protein transport 817 0.000003879856 0.00006249085080048961 2.51714 32 0.004997657 337 0.0054278883578635015 2.209441 17 25 0.002941685 GO Biological Process platelet formation 877 0.000006833526 0.00010253405773546182 2.747926 26 0.004060597 496 0.021390474492741934 2.223122 13 19 0.002249524 GO Cellular Component intrinsic component of mitochondrial membrane 63 9.342253e-16 2.5624465371428575e-14 2.986653 74 0.01155708 61 0.006733588249180329 1.69957 34 65 0.005883371 GO Cellular Component integral component of mitochondrial membrane 65 2.013494e-15 5.3527963569230765e-14 2.966836 73 0.01140091 65 0.010949929255384615 1.675357 33 64 0.005710331 GO Cellular Component PcG protein complex 78 3.793507e-12 8.404077046153846e-11 2.607408 69 0.0107762 80 0.0429183792 1.695223 24 46 0.004152968 GO Cellular Component methyltransferase complex 94 2.576226e-10 4.735870774468085e-9 2.186129 81 0.01265032 76 0.032629437473684214 1.499621 42 91 0.007267693 GO Cellular Component histone methyltransferase complex 98 4.338753e-10 7.650372636734694e-9 2.280657 72 0.01124473 73 0.02318272490958904 1.601044 34 69 0.005883371 GO Cellular Component Set1C/COMPASS complex 112 3.382435e-9 5.218614e-8 6.441508 17 0.002655005 72 0.019548672000000003 2.499368 10 13 0.001730403 GO Cellular Component cytoplasmic stress granule 136 3.133378e-7 0.000003981233223529412 2.303219 47 0.007340309 50 0.0018611047296 1.964619 26 43 0.004499048 GO Molecular Function lysophosphatidic acid acyltransferase activity 90 6.732272e-7 0.000031581835982222217 2.603706 35 0.005466188 55 0.026803743141818184 2.274425 14 20 0.002422564 Mouse Phenotype Single KO decreased erythroid progenitor cell number 30 1.103316e-33 3.367688204e-31 3.332779 143 0.02233328 132 0.0006237953045075759 1.974991 31 51 0.00536425 Mouse Phenotype Single KO abnormal T cell activation 31 1.501477e-32 4.4351693190322576e-30 2.04682 331 0.05169452 210 0.0045420987447619045 1.337897 119 289 0.0205918 Mouse Phenotype Single KO abnormal T cell proliferation 38 3.352543e-29 8.078746381842105e-27 2.029693 302 0.04716539 230 0.006726091209999999 1.344487 108 261 0.01868835 Mouse Phenotype Single KO abnormal platelet aggregation 40 5.481146e-29 1.2547713480499998e-26 3.089166 136 0.02124004 127 0.0004822420849291339 1.791214 43 78 0.007440734 Mouse Phenotype Single KO decreased T cell proliferation 41 9.117494e-29 2.0363144526341468e-26 2.351983 215 0.03357801 184 0.003012653995326087 1.494622 69 150 0.01193978 Mouse Phenotype Single KO abnormal platelet activation 42 2.147292e-28 4.6816078200000005e-26 3.01456 138 0.0215524 145 0.0010639373051034482 1.720153 45 85 0.007786814 Mouse Phenotype Single KO abnormal platelet physiology 46 7.659876e-27 1.5248148811304349e-24 2.596308 166 0.02592535 117 0.00025627101086324783 1.683665 57 110 0.009863298 Mouse Phenotype Single KO abnormal neutrophil cell number 53 9.48458e-26 1.6386848879245284e-23 2.020079 268 0.04185538 162 0.0015864276401234567 1.382113 114 268 0.0197266 Mouse Phenotype Single KO abnormal erythropoiesis 55 3.629093e-24 6.042109927454545e-22 2.331983 182 0.02842418 130 0.0005638307935307693 1.654127 56 110 0.009690258 Mouse Phenotype Single KO decreased platelet aggregation 69 1.383094e-21 1.835506051884058e-19 3.161468 96 0.01499297 198 0.003786800579191919 1.787048 33 60 0.005710331 Mouse Phenotype Single KO abnormal erythroid progenitor cell morphology 74 5.672279e-21 7.0190620004054055e-19 2.292327 162 0.02530064 211 0.004547457336018957 1.643702 43 85 0.007440734 Mouse Phenotype Single KO thrombocytopenia 85 1.516483e-19 1.633698215411765e-17 2.049484 193 0.03014212 189 0.003219808564867725 1.486552 70 153 0.01211282 Mouse Phenotype Single KO abnormal mean corpuscular hemoglobin 89 9.484949e-19 9.758840223932584e-17 2.033841 188 0.02936124 96 0.00011916862568750002 1.559605 84 175 0.01453539 Mouse Phenotype Single KO increased circulating interferon-gamma level 111 2.025853e-16 1.6712374703603602e-14 3.632571 59 0.009214431 384 0.03793282480729167 1.737932 23 43 0.003979927 Mouse Phenotype Single KO altered susceptibility to parasitic infection 113 4.174667e-16 3.3829580282300886e-14 2.26124 125 0.0195221 374 0.03541883528877005 1.44094 51 115 0.008825056 Mouse Phenotype Single KO abnormal secondary ovarian follicle number 154 2.8064e-13 1.6687145974025976e-11 5.27241 31 0.004841481 312 0.02086427145897436 2.658418 9 11 0.001557363 Mouse Phenotype Single KO abnormal cell chemotaxis 164 1.704107e-12 9.514943779878048e-11 2.025742 121 0.01889739 411 0.04442637746958637 1.434322 49 111 0.008478976 Mouse Phenotype Single KO abnormal neural fold morphology 169 2.90602e-12 1.5745813692307693e-10 2.297014 89 0.01389973 137 0.000770840938759124 2.004812 29 47 0.005018169 Mouse Phenotype Single KO decreased circulating alanine transaminase level 187 1.753682e-11 8.587415012834225e-10 2.071283 104 0.01624239 360 0.03288154063055555 1.559605 36 75 0.006229451 Mouse Phenotype Single KO impaired natural killer cell mediated cytotoxicity 190 2.435909e-11 1.1739799322631579e-9 2.287906 82 0.0128065 277 0.013165871790252708 1.707195 31 59 0.00536425 Mouse Phenotype decreased erythroid progenitor cell number 36 2.344325e-31 6.226136479166667e-29 2.873021 165 0.02576917 188 0.0003994588851382979 1.795598 42 76 0.007267693 Mouse Phenotype abnormal platelet physiology 40 1.328855e-29 3.17629566375e-27 2.573022 187 0.02920506 138 0.00008594521465217392 1.649204 67 132 0.0115937 Mouse Phenotype abnormal erythropoiesis 41 1.508487e-29 3.517718099268293e-27 2.326491 226 0.03529596 131 0.00007633217759541984 1.613686 74 149 0.01280498 Mouse Phenotype abnormal platelet aggregation 47 4.501507e-28 9.157214558936168e-26 2.93557 142 0.0221771 287 0.0024725488893031357 1.624589 47 94 0.008132895 Mouse Phenotype abnormal platelet activation 48 8.984111e-28 1.7895226098125e-25 2.901188 143 0.02233328 367 0.0057881251929155315 1.559605 48 100 0.008305935 Mouse Phenotype increased circulating interferon-gamma level 73 7.872397e-22 1.0310683248904108e-19 3.937182 73 0.01140091 339 0.004432925215929203 1.812042 29 52 0.005018169 Mouse Phenotype abnormal erythroid progenitor cell morphology 74 8.307833e-22 1.0733944772027027e-19 2.180706 188 0.02936124 280 0.0022149521381785715 1.556329 57 119 0.009863298 Mouse Phenotype decreased platelet aggregation 84 7.919752e-21 9.014374865714287e-19 2.976942 101 0.01577386 429 0.011049984229370629 1.624589 36 72 0.006229451 Mouse Phenotype abnormal embryonic erythrocyte morphology 89 3.297006e-20 3.541873524269663e-18 3.332562 83 0.01296267 474 0.015730622531012657 1.83287 22 39 0.003806887 Mouse Phenotype extramedullary hematopoiesis 97 3.070652e-19 3.0266498734020616e-17 2.014246 198 0.030923 100 0.000011126690238 1.615306 87 175 0.01505451 Mouse Phenotype abnormal embryonic hematopoiesis 113 7.023827e-18 5.942903535132744e-16 2.432441 121 0.01889739 590 0.032007683801694914 1.597956 30 61 0.00519121 Mouse Phenotype abnormal neural fold morphology 154 1.037277e-14 6.439873634415585e-13 2.270929 112 0.0174918 197 0.0004326053536751269 1.895354 35 60 0.006056411 Mouse Phenotype increased respiratory quotient 183 2.507515e-13 1.3100738204918035e-11 2.682145 73 0.01140091 595 0.03239485337142857 1.624589 28 56 0.004845129 Mouse Phenotype abnormal reticulocyte cell number 208 3.639499e-12 1.6729447086057692e-10 2.028253 117 0.01827268 522 0.022763202448275864 1.46064 49 109 0.008478976 Mouse Phenotype decreased circulating alanine transaminase level 217 5.28817e-12 2.329962828110599e-10 2.059257 111 0.01733562 466 0.015084375337982833 1.549027 41 86 0.007094653 Mouse Phenotype reticulocytosis 238 3.324067e-11 1.335353133907563e-9 2.063642 102 0.01593003 675 0.04676081132 1.440357 43 97 0.007440734 Mouse Phenotype abnormal neural fold formation 252 7.521249e-11 2.8535976860714285e-9 2.48723 66 0.01030767 350 0.005021688517714286 2.006845 21 34 0.003633847 Mouse Phenotype abnormal liver sinusoid morphology 260 1.069704e-10 3.933630747692308e-9 2.060489 97 0.01514915 450 0.014280672917999998 1.582933 38 78 0.006575532 Mouse Phenotype impaired natural killer cell mediated cytotoxicity 282 3.617545e-10 1.2265016930851064e-8 2.146459 83 0.01296267 396 0.008094564724242425 1.704487 32 61 0.00553729 Mouse Phenotype decreased susceptibility to hepatic steatosis 318 2.688866e-9 8.08435466226415e-8 2.03226 85 0.01327503 295 0.0027560739543050846 1.687885 40 77 0.006921613