# 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 positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway 461 4.07899e-9 1.1643260175704989e-7 2.147561 73 0.006696019 782 0.01797919891304348 1.562744 27 37 0.00307938 GO Biological Process positive regulation of dendritic spine morphogenesis 491 8.099025e-9 2.1705716899185336e-7 2.454588 53 0.004861493 918 0.04120242012091503 1.763619 14 17 0.001596715 GO Biological Process nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway 538 2.907544e-8 7.111593214869888e-7 2.11648 67 0.006145661 910 0.040697952753846155 1.570461 22 30 0.002509124 GO Biological Process negative regulation of cardiac muscle hypertrophy 561 6.067505e-8 0.0000014232138733511587 2.174084 60 0.005503577 625 0.005152220118559999 1.903589 16 18 0.001824818 GO Biological Process negative regulation of muscle hypertrophy 620 1.76847e-7 0.0000037534349564516127 2.075691 62 0.00568703 688 0.009086262722965116 1.820307 17 20 0.001938869 GO Biological Process positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway 638 2.740375e-7 0.000005652130818965517 2.04823 62 0.00568703 805 0.021926604674534163 1.624615 22 29 0.002509124 GO Biological Process DNA catabolic process 690 6.426821e-7 0.000012256599643333334 2.429395 40 0.003669052 955 0.049775453864921465 1.586324 20 27 0.002281022 GO Biological Process negative regulation of appetite 718 0.00000114955 0.000021068145473537603 2.837275 29 0.002660062 825 0.025124470724848483 1.963076 11 12 0.001254562 GO Biological Process negative regulation of response to nutrient levels 764 0.000002016314 0.00003472863341099477 2.649365 31 0.002843515 669 0.007795000173841555 1.98857 13 14 0.001482664 GO Biological Process regulation of Rac protein signal transduction 849 0.000004579502 0.00007097958400235571 2.235019 40 0.003669052 934 0.04462514175053533 1.835603 12 14 0.001368613 GO Biological Process regulation of cardiac muscle hypertrophy in response to stress 906 0.000007903671 0.00011479515087086092 2.233355 38 0.003485599 777 0.017836914418275417 2.141537 9 9 0.00102646 GO Biological Process nucleus localization 957 0.00001291295 0.0001775564357889237 2.158037 39 0.003577325 946 0.048468658763213525 1.654824 17 22 0.001938869 GO Biological Process retrograde axonal transport 1063 0.00003398285 0.00042067763231420506 2.609239 24 0.002201431 777 0.017836914418275417 2.141537 9 9 0.00102646 GO Biological Process coronary artery morphogenesis 1150 0.0000591977 0.0006773761167826087 2.074198 36 0.003302146 777 0.017836914418275417 2.141537 9 9 0.00102646 GO Biological Process cellular response to UV-B 1209 0.0000799588 0.0008702877164598842 3.482865 14 0.001284168 875 0.033936730145142854 2.141537 8 8 0.0009124088 GO Biological Process regulation of metallopeptidase activity 1210 0.0000805225 0.0008756988243801652 2.280699 28 0.002568336 749 0.013917416944592788 1.976804 12 13 0.001368613 GO Biological Process L-ascorbic acid metabolic process 1431 0.0002427502 0.002232250092103424 2.659816 18 0.001651073 928 0.04414275883728448 1.946852 10 11 0.001140511 GO Biological Process dendritic spine maintenance 1445 0.0002581488 0.0023508512520415224 2.231011 25 0.002293157 875 0.033936730145142854 2.141537 8 8 0.0009124088 GO Biological Process maintenance of protein location in nucleus 1762 0.001008843 0.007534259385357548 2.095202 23 0.002109705 760 0.015472608454210527 1.873845 14 16 0.001596715 GO Cellular Component platelet dense tubular network 190 0.00003152108 0.0002866759275789473 2.622027 24 0.002201431 126 0.04269310628571429 1.946852 10 11 0.001140511 GO Cellular Component Schmidt-Lanterman incisure 320 0.00173215 0.00935361 2.007108 23 0.002109705 96 0.0088476336 2.141537 10 10 0.001140511 GO Molecular Function mitogen-activated protein kinase binding 69 3.800457e-11 2.325439051304348e-9 2.671359 60 0.005503577 98 0.0017356448132653062 1.824273 23 27 0.002623175 GO Molecular Function RNA polymerase II repressing transcription factor binding 113 1.058549e-7 0.000003955038830088495 2.093743 63 0.005778756 114 0.012491694359649124 1.698461 23 29 0.002623175 GO Molecular Function profilin binding 271 0.0002460327 0.003833026049446495 2.238409 25 0.002293157 119 0.0174391732302521 2.141537 10 10 0.001140511 Human Phenotype Limb hypertonia 59 3.021579e-9 3.41745706220339e-7 2.530385 53 0.004861493 62 0.005206120690483871 2.015565 16 17 0.001824818 Human Phenotype Milia 347 0.00004191017 0.0008059555170317005 2.257403 31 0.002843515 95 0.013861984456842107 1.998768 14 15 0.001596715 Human Phenotype Persistence of primary teeth 367 0.00005577374 0.001014109446920981 2.159848 33 0.003026968 162 0.043383438524691356 2.141537 9 9 0.00102646 Mouse Phenotype Single KO increased integument system tumor incidence 105 8.715148e-16 7.600439070095238e-14 2.268441 122 0.01119061 532 0.0044338675947368416 1.437084 51 76 0.005816606 Mouse Phenotype Single KO abnormal pharynx morphology 140 3.255552e-13 2.1293635474285714e-11 2.810442 67 0.006145661 921 0.03464358563517915 1.654824 17 22 0.001938869 Mouse Phenotype Single KO decreased CD4-positive, CD25-positive, alpha-beta regulatory T cell number 212 1.235412e-10 5.336164001886792e-9 2.250884 79 0.007246377 969 0.04251245451909185 1.550768 21 29 0.002395073 Mouse Phenotype Single KO abnormal lactate dehydrogenase level 236 4.527578e-10 1.756738633305085e-8 2.096316 87 0.007980187 795 0.02149213553962264 1.494096 30 43 0.003421533 Mouse Phenotype Single KO abnormal fourth pharyngeal arch artery morphology 253 1.132244e-9 4.098007236363636e-8 2.176872 76 0.006971198 463 0.001935777933477322 2.007691 15 16 0.001710766 Mouse Phenotype Single KO thick ventricular wall 295 6.157317e-9 1.911272941322034e-7 2.101128 75 0.006879472 663 0.011509369767269984 1.552615 29 40 0.003307482 Mouse Phenotype Single KO decreased spongiotrophoblast size 333 1.721961e-8 4.735134197297297e-7 2.761968 41 0.003760778 766 0.019025448691906005 1.784615 15 18 0.001710766 Mouse Phenotype Single KO abnormal bone marrow cavity morphology 365 4.153089e-8 0.000001041913314328767 2.233134 58 0.005320125 960 0.040876914769791675 1.690687 15 19 0.001710766 Mouse Phenotype Single KO persistent right dorsal aorta 403 1.067118e-7 0.000002424714522580645 2.186063 57 0.005228398 573 0.006333123429144852 1.98857 13 14 0.001482664 Mouse Phenotype Single KO abnormal lung elastance 442 2.158849e-7 0.0000044725294780542986 3.950136 21 0.001926252 829 0.024926071979493366 2.141537 8 8 0.0009124088 Mouse Phenotype Single KO straub tail 471 4.21678e-7 0.000008198100734607218 2.034449 61 0.005595304 781 0.02043413275544174 1.588883 23 31 0.002623175 Mouse Phenotype Single KO thin interventricular septum 519 9.35351e-7 0.00001650290772061657 2.307846 43 0.00394423 674 0.01186242478115727 1.8034 16 19 0.001824818 Mouse Phenotype Single KO absent upper incisors 531 0.000001083454 0.000018683970391713748 2.591003 34 0.003118694 986 0.04489954781845842 2.141537 7 7 0.0007983577 Mouse Phenotype Single KO fusion of vertebral bodies 719 0.000009516723 0.00012120254869401946 2.991579 22 0.002017978 887 0.032137652900789175 1.946852 10 11 0.001140511 Mouse Phenotype Single KO abnormal cervical rib 769 0.00001609711 0.00019167911088426525 2.461624 29 0.002660062 887 0.032137652900789175 1.946852 10 11 0.001140511 Mouse Phenotype Single KO abnormal thymus development 787 0.00002126436 0.0002474177185768742 2.15729 37 0.003393873 677 0.012087007355391434 1.873845 14 16 0.001596715 Mouse Phenotype Single KO failure of bone ossification 832 0.00003048134 0.00033547792112980767 2.171893 35 0.00321042 604 0.0074519666 2.141537 10 10 0.001140511 Mouse Phenotype Single KO delayed brain development 1041 0.0002325408 0.0020455101878962536 2.868163 16 0.001467621 986 0.04489954781845842 2.141537 7 7 0.0007983577 Mouse Phenotype Single KO abnormal synaptic vesicle recycling 1124 0.0004269275 0.003478091741548043 2.193808 24 0.002201431 677 0.012087007355391434 1.873845 14 16 0.001596715 Mouse Phenotype Single KO dermal-epidermal separation 1416 0.001993717 0.012892984865112995 2.329682 16 0.001467621 986 0.04489954781845842 2.141537 7 7 0.0007983577 Mouse Phenotype abnormal liver sinusoid morphology 67 3.622983e-26 5.1700508153731344e-24 2.382919 191 0.01751972 892 0.007105599073654709 1.400236 51 78 0.005816606 Mouse Phenotype enlarged liver sinusoidal spaces 69 4.601553e-26 6.376151917826088e-24 2.94745 131 0.01201614 1290 0.03168286380697675 1.462513 28 41 0.003193431 Mouse Phenotype abnormal cell adhesion 109 1.648789e-20 1.4462451035779816e-18 2.106 192 0.01761145 509 0.00026861319565815326 1.521619 54 76 0.006158759 Mouse Phenotype abnormal hair follicle outer root sheath morphology 135 1.34616e-16 9.533804266666668e-15 2.675946 94 0.008622271 671 0.0017866530983606558 1.75912 23 28 0.002623175 Mouse Phenotype increased squamous cell carcinoma incidence 142 3.917558e-16 2.6377304252112678e-14 2.33191 118 0.0108237 1114 0.01845712428366248 1.441419 35 52 0.003991788 Mouse Phenotype abnormal keratinocyte proliferation 169 1.547657e-14 8.755709217159763e-13 2.016721 146 0.01339204 1347 0.0353722645701559 1.338461 45 72 0.005132299 Mouse Phenotype increased skin tumor incidence 186 9.06039e-14 4.657332730645161e-12 2.001523 140 0.01284168 1187 0.02344718053243471 1.323422 55 89 0.00627281 Mouse Phenotype abnormal lactate dehydrogenase level 308 7.406745e-11 2.299217173538961e-9 2.04446 101 0.009264355 1004 0.01210282613247012 1.469683 35 51 0.003991788 Mouse Phenotype progressive hair loss 316 9.960838e-11 3.01378392778481e-9 2.381891 71 0.006512567 1393 0.040239290786791095 1.631648 16 21 0.001824818 Mouse Phenotype decreased classified tumor incidence 320 1.137703e-10 3.3992432446874997e-9 2.52653 63 0.005778756 869 0.006377523670425776 1.682637 22 28 0.002509124 Mouse Phenotype decreased spongiotrophoblast size 382 1.198027e-9 2.9985173159685866e-8 2.907746 44 0.004035957 939 0.008890329960063899 1.8034 16 19 0.001824818 Mouse Phenotype decreased CD4-positive, CD25-positive, alpha-beta regulatory T cell number 401 2.45027e-9 5.8421524862842896e-8 2.049114 84 0.007705008 1473 0.04802949851120163 1.468483 24 35 0.002737226 Mouse Phenotype abnormal spongiotrophoblast size 463 1.074887e-8 2.219653262850972e-7 2.345381 57 0.005228398 1453 0.046801700376462495 1.52967 20 28 0.002281022 Mouse Phenotype abnormal lung elastance 478 1.36809e-8 2.7364662112970715e-7 4.128356 24 0.002201431 970 0.010381245089690721 2.141537 9 9 0.00102646 Mouse Phenotype liver failure 556 8.460894e-8 0.0000014549389844244603 3.023754 32 0.002935241 1070 0.015096282869158878 1.855999 13 15 0.001482664 Mouse Phenotype abnormal sebocyte morphology 615 2.239258e-7 0.000003481226949268293 3.014123 30 0.002751789 1209 0.02504843606699752 1.835603 12 14 0.001368613 Mouse Phenotype persistent right dorsal aorta 619 2.300757e-7 0.0000035537217571890146 2.045798 63 0.005778756 833 0.00538511904597839 1.889592 15 17 0.001710766 Mouse Phenotype straub tail 631 2.618263e-7 0.0000039672286122028525 2.051086 62 0.00568703 976 0.01047169504610656 1.606153 24 32 0.002737226 Mouse Phenotype trigeminal neuroma 725 0.000001065171 0.000014047034387586206 2.981525 27 0.00247661 1412 0.04136119747733711 1.927384 9 10 0.00102646 Mouse Phenotype aorta coarctation 738 0.000001276636 0.000016539182650406503 2.530665 35 0.00321042 1412 0.04136119747733711 1.927384 9 10 0.00102646