# 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 28 4.818822e-47 2.2646742392142856e-44 2.088875 470 0.03199455 180 0.000002516391914722222 1.342069 166 248 0.01772557 GO Biological Process negative regulation of gene expression, epigenetic 56 4.824485e-39 1.133667823482143e-36 2.778197 221 0.01504425 489 0.011320383616768915 1.319091 75 114 0.008008542 GO Biological Process cellular response to topologically incorrect protein 61 1.088794e-37 2.3487606960655739e-35 2.37131 284 0.01933288 233 0.00007926049739484978 1.399186 97 139 0.01035771 GO Biological Process response to topologically incorrect protein 62 3.328412e-37 7.064286049677418e-35 2.153277 344 0.02341729 217 0.000048211222577419355 1.358957 122 180 0.01302723 GO Biological Process regulation of intrinsic apoptotic signaling pathway 64 3.378698e-36 6.9469198409375e-34 2.165723 330 0.02246426 311 0.0008828461954983924 1.332367 103 155 0.0109984 GO Biological Process endoplasmic reticulum unfolded protein response 82 9.521351e-33 1.5279446074268293e-30 2.428203 234 0.0159292 231 0.00007345946239826841 1.442206 82 114 0.008756006 GO Biological Process regulation of megakaryocyte differentiation 96 5.878955e-31 8.058455088020834e-29 2.572027 198 0.01347856 406 0.004538613646059114 1.424619 54 76 0.005766151 GO Biological Process mitochondrial membrane organization 100 1.540385e-30 2.0269926215e-28 2.129691 287 0.0195371 212 0.000033427931841509436 1.439086 89 124 0.00950347 GO Biological Process gene silencing 103 2.365053e-30 3.0215274200970873e-28 2.072683 304 0.02069435 327 0.0011200043412538227 1.303262 117 180 0.01249333 GO Biological Process response to unfolded protein 105 2.842958e-30 3.5629032687619048e-28 2.067479 305 0.02076242 186 0.000004978462156827957 1.416044 113 160 0.0120662 GO Biological Process cellular response to unfolded protein 107 6.786176e-30 8.345728035887851e-28 2.264234 245 0.01667801 197 0.000015850903899492387 1.458195 88 121 0.00939669 GO Biological Process IRE1-mediated unfolded protein response 146 3.810434e-23 3.4343493839726026e-21 2.862169 121 0.008236896 350 0.0017070227011714285 1.521049 44 58 0.004698345 GO Biological Process multi-organism metabolic process 154 2.154027e-22 1.8405741099350648e-20 2.021201 234 0.0159292 209 0.000030874577633492825 1.404877 103 147 0.0109984 GO Biological Process regulation of mitochondrial membrane permeability 156 2.168991e-22 1.8295995236538462e-20 2.252487 182 0.01238938 421 0.005215439935391925 1.428232 52 73 0.005552589 GO Biological Process negative regulation of intrinsic apoptotic signaling pathway 161 4.912261e-22 4.0149343167080744e-20 2.123938 204 0.013887 664 0.045663553234939765 1.301129 61 94 0.006513615 GO Biological Process regulation of membrane permeability 178 9.050966e-21 6.691104583932583e-19 2.111512 194 0.01320626 471 0.009435039319957537 1.386186 56 81 0.005979712 GO Biological Process mitochondrial transmembrane transport 190 4.305399e-20 2.9818287074210524e-18 2.291868 156 0.01061947 363 0.002474374859173554 1.425254 59 83 0.006300053 GO Biological Process positive regulation of intrinsic apoptotic signaling pathway 191 4.740018e-20 3.265649050366492e-18 2.499893 131 0.008917631 372 0.0028217314169623653 1.522329 41 54 0.004378003 GO Biological Process viral gene expression 193 6.466553e-20 4.408982949585492e-18 2.108353 186 0.01266167 226 0.00006758829221681416 1.420879 90 127 0.009610251 GO Biological Process erythrocyte homeostasis 204 4.226404e-19 2.7262377566666668e-17 2.025023 196 0.01334241 585 0.028721193304273505 1.354039 52 77 0.005552589 GO Cellular Component ficolin-1-rich granule lumen 54 2.221804e-22 7.1097728e-21 2.07983 218 0.01484003 74 0.0009524395070270269 1.358238 84 124 0.008969568 GO Cellular Component intrinsic component of mitochondrial membrane 104 3.628136e-12 6.028287507692308e-11 2.04067 116 0.007896528 92 0.003593612660869565 1.449783 47 65 0.005018687 GO Cellular Component integral component of mitochondrial membrane 106 4.955108e-12 8.077760966037735e-11 2.037184 115 0.007828455 98 0.004953488326530612 1.441107 46 64 0.004911906 GO Cellular Component podosome 128 1.503407e-10 2.0295994500000003e-9 2.147235 87 0.005922396 144 0.046615380000000005 1.521049 22 29 0.002349172 GO Cellular Component NuA4 histone acetyltransferase complex 234 0.00001624271 0.00011994616615384615 2.090665 41 0.002791014 141 0.044613050553191494 1.670849 15 18 0.001601708 GO Cellular Component perinuclear endoplasmic reticulum 257 0.0000404534 0.00027199795797665374 2.024928 40 0.002722941 104 0.007869162461538461 2.005019 11 11 0.001174586 GO Cellular Component eukaryotic translation initiation factor 4F complex 266 0.00005766461 0.00037460318075187965 2.800862 20 0.00136147 131 0.02514023670229008 2.005019 9 9 0.0009610251 GO Molecular Function ribonucleoprotein complex binding 20 1.203136e-18 2.5398200959999996e-16 2.024624 191 0.01300204 80 0.0037474566995 1.359926 78 115 0.008328884 GO Molecular Function mitogen-activated protein kinase binding 34 1.169644e-13 1.4524226376470588e-11 2.610312 79 0.005377808 113 0.026862669286725663 1.633719 22 27 0.002349172 GO Molecular Function protein binding involved in protein folding 39 1.245683e-12 1.3485316989743587e-10 2.886444 61 0.004152485 113 0.026862669286725663 1.633719 22 27 0.002349172 GO Molecular Function 1-acylglycerol-3-phosphate O-acyltransferase activity 65 6.854717e-10 4.452402334461539e-8 2.289606 70 0.004765146 100 0.014720729184000001 1.793964 17 19 0.00181527 GO Molecular Function lysophosphatidic acid acyltransferase activity 69 9.716175e-10 5.945172586956522e-8 2.269779 70 0.004765146 124 0.042107333887096775 1.704266 17 20 0.00181527 Human Phenotype Abnormality of transition element cation homeostasis 3 6.574646e-26 1.4624204252666669e-22 4.601916 74 0.00503744 51 0.03370906511372549 1.659326 24 29 0.002562734 Human Phenotype Abnormality of iron homeostasis 5 1.027333e-24 1.3710786218e-21 4.688856 69 0.004697073 37 0.02367528098108108 1.754391 21 24 0.002242392 Mouse Phenotype Single KO abnormal platelet activation 28 5.0424e-42 1.649044885714286e-39 2.580333 271 0.01844792 192 0.0039337184296875 1.415307 60 85 0.006406834 Mouse Phenotype Single KO abnormal platelet aggregation 36 3.266291e-40 8.308174079722222e-38 2.574171 260 0.01769912 180 0.003373939382666666 1.439501 56 78 0.005979712 Mouse Phenotype Single KO abnormal erythropoiesis 42 5.389256e-39 1.1749861236190477e-36 2.111094 378 0.02573179 96 0.00007912884195 1.458195 80 110 0.008542445 Mouse Phenotype Single KO decreased erythroid progenitor cell number 43 3.104352e-38 6.610825875348838e-36 2.549799 251 0.01708645 195 0.004253434013435898 1.53325 39 51 0.004164442 Mouse Phenotype Single KO abnormal platelet physiology 58 2.599891e-33 4.104689980517241e-31 2.133802 313 0.02130701 124 0.0004197049657177419 1.421741 78 110 0.008328884 Mouse Phenotype Single KO extramedullary hematopoiesis 71 4.452454e-30 5.742411447605635e-28 2.151196 276 0.01878829 356 0.04019544887921348 1.283915 73 114 0.007794981 Mouse Phenotype Single KO decreased platelet aggregation 95 7.572409e-25 7.29900518031579e-23 2.45457 171 0.01164057 332 0.03402832218373494 1.403513 42 60 0.004484784 Mouse Phenotype Single KO decreased mean corpuscular hemoglobin 101 9.009019e-24 8.16787989930693e-22 2.310378 184 0.01252553 302 0.02146024210794702 1.394796 48 69 0.005125467 Mouse Phenotype Single KO glomerulonephritis 107 6.920356e-23 5.922401859065421e-21 2.10918 216 0.01470388 109 0.0002712167305137615 1.497725 62 83 0.006620395 Mouse Phenotype Single KO increased B cell derived lymphoma incidence 219 9.733753e-15 4.0699532521004567e-13 2.138336 129 0.008781484 202 0.0046266649133663365 1.545535 37 48 0.003950881 Mouse Phenotype Single KO lymphoid hypoplasia 245 2.433373e-13 9.094855739183674e-12 3.355329 52 0.003539823 364 0.04168334322802198 1.850786 12 13 0.001281367 Mouse Phenotype Single KO absent hypoglossal nerve 249 2.791075e-13 1.0264206335341365e-11 3.608194 47 0.003199455 274 0.015723584959124088 1.871351 14 15 0.001494928 Mouse Phenotype Single KO absent segment of posterior cerebral artery 274 2.081319e-12 6.955707329562044e-11 2.767718 64 0.004356705 267 0.013989227780524345 1.731607 19 22 0.002028831 Mouse Phenotype Single KO increased skin tumor incidence 304 1.076849e-11 3.2436533858552633e-10 2.209567 92 0.006262764 287 0.018738336018118466 1.503764 33 44 0.003523759 Mouse Phenotype Single KO abnormal cerebral artery morphology 425 1.54562e-9 3.330174668235294e-8 2.306606 66 0.004492852 213 0.005643510688732395 1.754391 21 24 0.002242392 Mouse Phenotype Single KO peripheral nervous system degeneration 540 6.665262e-8 0.0000011302556321111112 2.317191 52 0.003539823 390 0.0447492259025641 2.005019 9 9 0.0009610251 Mouse Phenotype Single KO abnormal synaptic vesicle recycling 590 3.007557e-7 0.000004667830415084746 2.577837 38 0.002586794 395 0.04682456291392405 1.754391 14 16 0.001494928 Mouse Phenotype Single KO osteosclerosis 610 5.155368e-7 0.000007738967996065573 2.162221 52 0.003539823 239 0.009044801846025104 2.005019 12 12 0.001281367 Mouse Phenotype Single KO abnormal aorta tunica adventitia morphology 653 0.000001155994 0.000016210470226646248 3.043772 26 0.001769912 390 0.0447492259025641 2.005019 9 9 0.0009610251 Mouse Phenotype abnormal platelet activation 30 3.427625e-48 1.0923840875e-45 2.644068 299 0.02035398 321 0.00534621334953271 1.363413 68 100 0.007261078 Mouse Phenotype abnormal platelet aggregation 31 5.37865e-48 1.6588797629032257e-45 2.658201 295 0.02008169 256 0.0018075529876171875 1.407779 66 94 0.007047517 Mouse Phenotype extramedullary hematopoiesis 32 8.846199e-48 2.6430783949687502e-45 2.097346 473 0.03219877 180 0.00020062058766666665 1.340498 117 175 0.01249333 Mouse Phenotype abnormal erythropoiesis 46 1.458069e-42 3.0305647193478257e-40 2.032604 453 0.0308373 124 0.000007487238376209677 1.426389 106 149 0.01131874 Mouse Phenotype abnormal platelet physiology 47 3.180041e-42 6.469015319361702e-40 2.213043 369 0.02511913 162 0.0000694284408888889 1.412627 93 132 0.009930593 Mouse Phenotype decreased erythroid progenitor cell number 65 1.37596e-35 2.0239313169230773e-33 2.254099 297 0.02021784 432 0.01772238468611111 1.371855 52 76 0.005552589 Mouse Phenotype decreased platelet aggregation 78 1.488676e-29 1.8247732353846156e-27 2.518064 196 0.01334241 401 0.014023347591770574 1.392374 50 72 0.005339028 Mouse Phenotype pancytopenia 109 7.4371e-25 6.5234966146789e-23 3.1093 115 0.007828455 469 0.02241583585074627 1.590187 23 29 0.002455953 Mouse Phenotype decreased mean corpuscular hemoglobin 154 2.016818e-20 1.2521296687012988e-18 2.060327 202 0.01375085 284 0.0032520317449647885 1.432156 55 77 0.005872931 Mouse Phenotype lymph node hyperplasia 213 3.292091e-16 1.477731551690141e-14 2.19654 135 0.009189925 509 0.03224359904911591 1.458195 32 44 0.003416978 Mouse Phenotype increased cellular sensitivity to ultraviolet irradiation 225 1.43963e-15 6.117467746666666e-14 2.941626 75 0.005105514 562 0.042318295959074735 1.537181 23 30 0.002455953 Mouse Phenotype lymphoid hypoplasia 274 1.625151e-13 5.6708279967153284e-12 3.345004 53 0.003607897 446 0.018970456006278023 1.861803 13 14 0.001388147 Mouse Phenotype absent hypoglossal nerve 279 2.791075e-13 9.564683897849463e-12 3.608194 47 0.003199455 381 0.011806665596850393 1.871351 14 15 0.001494928 Mouse Phenotype absent segment of posterior cerebral artery 306 2.081319e-12 6.503101620588236e-11 2.767718 64 0.004356705 375 0.010399772507199999 1.731607 19 22 0.002028831 Mouse Phenotype microcytic anemia 335 8.480904e-12 2.420475317731343e-10 2.487107 73 0.004969367 350 0.007037704587428571 1.659326 24 29 0.002562734 Mouse Phenotype interstitial pneumonia 358 1.835487e-11 4.901980784078213e-10 2.498396 70 0.004765146 375 0.010399772507199999 1.731607 19 22 0.002028831 Mouse Phenotype abnormal cerebral artery morphology 465 1.54562e-9 3.17799415483871e-8 2.306606 66 0.004492852 301 0.00416977444883721 1.754391 21 24 0.002242392 Mouse Phenotype increased circulating interleukin-1 beta level 470 1.739911e-9 3.5394232065957443e-8 2.097546 81 0.005513955 519 0.03426223957225434 1.503764 27 36 0.002883075 Mouse Phenotype abnormal aorta tunica adventitia morphology 712 0.000001155994 0.000015523116058988765 3.043772 26 0.001769912 524 0.0347751451259542 2.005019 9 9 0.0009610251 Mouse Phenotype osteosclerosis 753 0.000002591028 0.00003289882962549801 2.041574 52 0.003539823 505 0.03137058763366337 1.850786 12 13 0.001281367