# 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 gene silencing by miRNA 44 4.074662e-13 1.2186017558636363e-10 2.314658 95 0.007293666 604 0.016073051835430462 1.48882 33 44 0.003488741 GO Biological Process regulation of pinocytosis 45 4.723999e-13 1.3814022853555556e-10 6.607542 25 0.001919386 740 0.03708017706216216 1.985094 9 9 0.0009514748 GO Biological Process snRNA metabolic process 64 3.293336e-12 6.77140756625e-10 2.080662 111 0.008522073 734 0.03672442045912806 1.315702 57 86 0.006026007 GO Biological Process posttranscriptional gene silencing 74 1.01387e-11 1.802907477027027e-9 2.104928 103 0.007907869 410 0.002485561786341463 1.526995 40 52 0.004228777 GO Biological Process posttranscriptional gene silencing by RNA 77 1.07114e-11 1.8305365272727272e-9 2.111534 102 0.007831094 456 0.003449804994736842 1.518013 39 51 0.004123057 GO Biological Process positive regulation of mRNA catabolic process 84 2.450936e-11 3.839507955238095e-9 2.378378 76 0.005834933 564 0.012007939806560284 1.667479 21 25 0.002220108 GO Biological Process positive regulation of viral entry into host cell 160 4.974016e-9 4.0908172839999996e-7 4.359266 24 0.00184261 740 0.03708017706216216 1.985094 9 9 0.0009514748 GO Biological Process regulation of mitophagy 161 5.317267e-9 4.345957543664596e-7 2.07501 78 0.005988484 718 0.03296170052506964 1.436025 34 47 0.00359446 GO Biological Process ADP metabolic process 183 1.658097e-8 0.0000011922895313114752 2.225719 62 0.004760077 492 0.006149845277032521 1.533936 34 44 0.00359446 GO Biological Process glucose catabolic process 195 2.5878e-8 0.0000017463005230769229 2.57944 45 0.003454894 676 0.025511310474852073 1.574385 23 29 0.002431547 GO Biological Process positive regulation of viral transcription 218 6.414016e-8 0.000003871653052477064 2.058356 68 0.005220729 701 0.03134515097860199 1.465188 31 42 0.003277302 GO Biological Process ATP generation from ADP 228 7.710954e-8 0.000004450370337105263 2.264767 54 0.004145873 728 0.03507422996703297 1.476095 29 39 0.003065863 GO Biological Process glycolytic process 267 2.895311e-7 0.000014269437246816479 2.224995 51 0.003915547 793 0.04828996230138714 1.462701 28 38 0.002960144 GO Biological Process virion assembly 342 0.000002455863 0.00009449327841228072 2.061609 51 0.003915547 479 0.005017815154070982 1.599103 29 36 0.003065863 GO Biological Process regulation of beta-amyloid clearance 713 0.0002110402 0.0038949200446002806 2.409721 22 0.00168906 740 0.03708017706216216 1.985094 9 9 0.0009514748 GO Cellular Component mitochondrial ribosome 27 3.928501e-14 2.51424064e-12 2.376386 98 0.007523992 159 0.029782688603773585 1.307826 56 85 0.005920288 GO Cellular Component cleavage furrow 37 3.167752e-11 1.4794257989189188e-9 2.007785 110 0.008445298 153 0.02110183905882353 1.41247 37 52 0.003911619 GO Cellular Component Sin3 complex 82 4.458374e-7 0.000009395207648780488 2.572588 37 0.002840691 152 0.021054997894736843 1.832394 12 13 0.001268633 GO Cellular Component Sin3-type complex 97 0.000001413548 0.000025181556123711336 2.322814 41 0.003147793 156 0.02528900307692308 1.736957 14 16 0.001480072 GO Cellular Component NuRD complex 133 0.00004165449 0.0005411951783458646 2.064527 38 0.002917466 89 0.000331834635505618 1.985094 16 16 0.001691511 GO Molecular Function cyclin-dependent protein serine/threonine kinase regulator activity 30 3.70377e-8 0.000005212438980000001 2.206915 60 0.004606526 68 0.0005552119369117646 1.779739 26 29 0.002748705 Human Phenotype Aplasia of the uterus 101 0.000004294058 0.000283705435980198 2.427383 34 0.002610365 339 0.04104611510914454 1.985094 9 9 0.0009514748 Human Phenotype Abnormality of metacarpal epiphyses 115 0.000008872369 0.0005148288551043478 2.594671 28 0.002149712 289 0.024243078269896193 1.985094 10 10 0.001057194 Human Phenotype Lower limb amyotrophy 355 0.0005687746 0.010691360298028169 2.043668 27 0.002072937 282 0.023638884799290782 1.843301 13 14 0.001374352 Mouse Phenotype Single KO abnormal interventricular septum thickness 6 7.808609e-14 1.1917238768833333e-10 2.232249 109 0.008368522 640 0.0444431990359375 1.431114 31 43 0.003277302 Mouse Phenotype Single KO subcutaneous edema 13 6.193233e-12 4.3624180446923085e-9 2.46872 75 0.005758157 635 0.042378783466141726 1.521905 23 30 0.002431547 Mouse Phenotype Single KO abnormal embryonic erythrocyte morphology 21 1.079645e-10 4.707766316666666e-8 2.110261 92 0.00706334 654 0.04753568118501529 1.474641 26 35 0.002748705 Mouse Phenotype Single KO thick ventricular wall 24 1.698239e-10 6.479489384583332e-8 2.110388 90 0.006909789 532 0.022102261227443607 1.48882 30 40 0.003171583 Mouse Phenotype Single KO fusion of vertebral bodies 27 3.233395e-10 1.0965999264814814e-7 3.755953 33 0.002533589 433 0.01117945562378753 1.985094 11 11 0.001162914 Mouse Phenotype Single KO enlarged liver sinusoidal spaces 32 6.773624e-10 1.9383148427499999e-7 2.040981 91 0.006986564 549 0.024546497719489982 1.502233 28 37 0.002960144 Mouse Phenotype Single KO abnormal synaptic vesicle recycling 37 1.644717e-9 4.0704523159459457e-7 3.060384 40 0.003071017 606 0.03449793976072607 1.736957 14 16 0.001480072 Mouse Phenotype Single KO absent stapedial artery 72 7.440506e-8 0.000009462876866944444 2.544946 43 0.003301344 368 0.007138948987228261 1.861025 15 16 0.001585791 Mouse Phenotype Single KO abnormal stapedial artery morphology 89 1.530133e-7 0.000015743177394382022 2.476678 43 0.003301344 535 0.022110800285981308 1.751553 15 17 0.001585791 Mouse Phenotype Single KO decreased spongiotrophoblast size 96 2.667001e-7 0.000025439300163541668 2.424553 43 0.003301344 462 0.014394609760606062 1.764528 16 18 0.001691511 Mouse Phenotype Single KO abnormal spongiotrophoblast size 112 7.423474e-7 0.00006069352805178572 2.05386 57 0.0043762 373 0.00745133076541555 1.679695 22 26 0.002325827 Mouse Phenotype Single KO heterochrony 122 0.000001178653 0.00008846660263114754 2.194683 47 0.003608445 535 0.022110800285981308 1.751553 15 17 0.001585791 Mouse Phenotype absent hypoglossal canal 1 9.495594e-21 9.0787374234e-17 7.461234 38 0.002917466 944 0.04194162559639831 1.985094 8 8 0.0008457554 Mouse Phenotype enlarged liver sinusoidal spaces 7 4.551391e-15 6.216549907285713e-12 2.241045 119 0.009136276 521 0.0046535864418426115 1.549341 32 41 0.003383021 Mouse Phenotype absent hypoglossal nerve 10 1.673396e-14 1.5999339155999998e-11 3.982849 46 0.00353167 925 0.04140291305513513 1.720414 13 15 0.001374352 Mouse Phenotype subcutaneous edema 22 6.193233e-12 2.6915227596818185e-9 2.46872 75 0.005758157 858 0.0327480185 1.521905 23 30 0.002431547 Mouse Phenotype thin hypoglossal nerve 31 8.533619e-11 2.631933266419355e-8 3.127181 45 0.003454894 925 0.04140291305513513 1.720414 13 15 0.001374352 Mouse Phenotype increased body temperature 33 1.472422e-10 4.2660081036363636e-8 2.116616 90 0.006909789 685 0.015043570510948906 1.531358 27 35 0.002854424 Mouse Phenotype fusion of vertebral bodies 40 3.233395e-10 7.728622398749999e-8 3.755953 33 0.002533589 597 0.008466118161306534 1.985094 11 11 0.001162914 Mouse Phenotype absent stapedial artery 61 5.251206e-9 8.230619764918032e-7 2.440535 55 0.004222649 392 0.0010497838975255102 1.880615 18 19 0.00190295 Mouse Phenotype increased lactate dehydrogenase level 62 5.891504e-9 9.085269313548387e-7 2.195846 68 0.005220729 858 0.0327480185 1.521905 23 30 0.002431547 Mouse Phenotype abnormal thymus involution 66 7.75442e-9 0.000001123333479090909 2.348545 58 0.004452975 729 0.019021327522633746 1.63986 19 23 0.002008669 Mouse Phenotype decreased spongiotrophoblast size 72 1.026086e-8 0.0000013625567008333334 2.599741 47 0.003608445 571 0.006797025412434325 1.776136 17 19 0.00179723 Mouse Phenotype abnormal stapedial artery morphology 73 1.030265e-8 0.0000013493648856164383 2.39112 55 0.004222649 508 0.004247954182086614 1.786584 18 20 0.00190295 Mouse Phenotype abnormal spongiotrophoblast size 88 3.137453e-8 0.00000340877137875 2.169739 63 0.004836852 449 0.0022085015652561248 1.701509 24 28 0.002537266 Mouse Phenotype increased incidence of corneal inflammation 100 6.119682e-8 0.0000058510279602 2.345609 51 0.003915547 654 0.01214167032614679 1.701509 18 21 0.00190295 Mouse Phenotype abnormal sebocyte morphology 108 1.237956e-7 0.000010959349366666667 2.859217 34 0.002610365 677 0.014108135337961597 1.843301 13 14 0.001374352 Mouse Phenotype abnormal parotid gland morphology 147 9.142014e-7 0.00005946040534285715 4.100068 18 0.001381958 944 0.04194162559639831 1.985094 8 8 0.0008457554 Mouse Phenotype heterochrony 156 0.000001178653 0.00007223782905769231 2.194683 47 0.003608445 711 0.01737155705907173 1.751553 15 17 0.001585791 Mouse Phenotype tachypnea 159 0.000001391308 0.00008366223766037735 2.382643 39 0.002994242 636 0.010917793091509434 1.764528 16 18 0.001691511 Mouse Phenotype abnormal cerebral artery morphology 175 0.000002317764 0.00012662938059428573 2.049637 52 0.003992322 905 0.038739333752486185 1.571532 19 24 0.002008669 Mouse Phenotype dry eyes 191 0.000003707656 0.00018559632992670158 2.030383 51 0.003915547 535 0.005127178285794392 1.861025 15 16 0.001585791