# 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 negative regulation of Notch signaling pathway 592 1.459192e-35 3.2434978932432434e-34 2.363163 271 0.006656187 398 0.005679183041457286 1.367172 32 33 0.002402763 GO Biological Process regulation of endoplasmic reticulum unfolded protein response 622 1.924583e-34 4.07163789340836e-33 2.460337 242 0.005943901 459 0.010560969032897603 1.409896 23 23 0.001726986 GO Biological Process positive regulation of mRNA catabolic process 644 4.289568e-33 8.764972874534162e-32 2.412783 241 0.00591934 667 0.04114681199550224 1.353501 24 25 0.001802072 GO Biological Process lens fiber cell differentiation 666 3.144949e-32 6.213871455105105e-31 2.093142 319 0.007835143 625 0.032265278476800004 1.35567 25 26 0.001877159 GO Cellular Component cleavage furrow 90 3.540352e-36 6.797475839999999e-35 2.096298 359 0.008817606 44 0.000014925847418181818 1.382783 51 52 0.003829404 GO Cellular Component sex chromosome 243 1.974195e-13 1.4038719999999999e-12 2.012526 135 0.003315813 109 0.024294601981651377 1.35567 25 26 0.001877159 GO Molecular Function protein phosphorylated amino acid binding 78 1.24439e-37 6.735659717948718e-36 2.013788 413 0.01014393 127 0.04418878176377952 1.281724 40 44 0.003003454 GO Molecular Function receptor agonist activity 81 2.028033e-36 1.0570809044444444e-34 2.375365 275 0.006754433 109 0.023377825996330277 1.361279 28 29 0.002102418 Human Phenotype Abnormality of the sclera 12 4.23452e-47 2.3547459966666666e-44 2.09944 471 0.0115685 139 0.004518122195107914 1.30546 50 54 0.003754317 Mouse Phenotype Single KO abnormal body temperature 88 4.363511e-114 4.540530707613636e-112 2.316197 934 0.02294051 133 0.0000016956905060150376 1.313139 95 102 0.007133203 Mouse Phenotype Single KO abnormal cell chemotaxis 93 2.395924e-108 2.359083448172043e-106 2.32224 882 0.02166331 322 0.002487449568074534 1.21937 96 111 0.00720829 Mouse Phenotype Single KO abnormal CD4-positive, alpha-beta T cell physiology 100 4.87072e-102 4.460118304e-100 2.08347 1055 0.02591246 579 0.022806465319516408 1.154412 122 149 0.009160535 Mouse Phenotype Single KO increased IgE level 131 3.14532e-85 2.1986026900763356e-83 2.5384 582 0.01429484 677 0.04086191546233383 1.208483 60 70 0.004505181 Mouse Phenotype Single KO abnormal tumor necrosis factor level 139 2.999611e-83 1.9760746710071943e-81 2.015447 932 0.02289139 607 0.027416540741350904 1.156318 114 139 0.008559844 Mouse Phenotype Single KO abnormal spleen red pulp morphology 158 4.829019e-78 2.798691581202531e-76 2.047993 839 0.02060716 538 0.01760251131226766 1.190883 87 103 0.006532512 Mouse Phenotype Single KO abnormal T-helper 2 physiology 173 4.00303e-74 2.1188292317919076e-72 2.473303 530 0.01301764 608 0.027910912521381576 1.239736 51 58 0.003829404 Mouse Phenotype Single KO abnormal IgE level 179 6.665195e-72 3.4096754533519554e-70 2.004011 815 0.02001768 534 0.017188306325842694 1.176856 101 121 0.007583721 Mouse Phenotype Single KO abnormal circulating tumor necrosis factor level 180 9.100779e-72 4.6297685168333335e-70 2.254863 618 0.01517905 696 0.04517886185775862 1.1682 87 105 0.006532512 Mouse Phenotype Single KO decreased body temperature 195 5.555033e-69 2.608586522102564e-67 2.254022 594 0.01458958 202 0.00011252180531188119 1.325723 63 67 0.00473044 Mouse Phenotype Single KO decreased circulating total protein level 230 2.483728e-62 9.888477085217392e-61 2.419776 463 0.01137201 608 0.027910912521381576 1.239736 51 58 0.003829404 Mouse Phenotype Single KO abnormal CD4-positive T cell differentiation 236 4.812669e-61 1.8673563573305083e-59 2.240432 531 0.0130422 490 0.013515578760408162 1.261486 51 57 0.003829404 Mouse Phenotype Single KO spleen hyperplasia 247 1.131178e-59 4.19360200242915e-58 2.122213 586 0.01439308 373 0.004695989465415549 1.247216 69 78 0.005180958 Mouse Phenotype Single KO increased circulating tumor necrosis factor level 256 2.773058e-58 9.91909847890625e-57 2.477202 413 0.01014393 630 0.03258163797936508 1.227974 54 62 0.004054663 Mouse Phenotype Single KO abnormal embryonic hematopoiesis 287 1.191163e-53 3.8005155369337976e-52 2.055542 567 0.01392641 612 0.0278967556127451 1.250285 47 53 0.003529058 Mouse Phenotype Single KO increased respiratory quotient 293 3.223192e-53 1.0073300049146757e-51 2.502068 369 0.009063221 577 0.022693601072790295 1.266029 44 49 0.003303799 Mouse Phenotype Single KO increased B cell apoptosis 706 3.347444e-26 4.341720213597734e-25 2.106809 252 0.006189517 424 0.007955746297877358 1.409896 23 23 0.001726986 Mouse Phenotype Single KO microcytic anemia 1121 9.178033e-16 7.497167545138269e-15 2.104159 145 0.003561429 455 0.01045758782901099 1.409896 22 22 0.0016519 Mouse Phenotype extramedullary hematopoiesis 71 4.342637e-147 5.847880613661972e-145 2.183834 1365 0.03352655 773 0.01597239880595084 1.14403 142 175 0.01066226 Mouse Phenotype abnormal body temperature 104 3.469597e-108 3.1896939343269225e-106 2.096835 1102 0.02706686 209 0.000003411992898229665 1.271043 119 132 0.008935276 Mouse Phenotype increased IgE level 126 1.003392e-96 7.613834057142857e-95 2.439786 713 0.0175124 808 0.019129431074257425 1.199222 74 87 0.00555639 Mouse Phenotype abnormal cell chemotaxis 133 2.565704e-94 1.8444132288721805e-92 2.075204 984 0.02416859 648 0.0069619188740740745 1.17327 119 143 0.008935276 Mouse Phenotype abnormal circulating interleukin-6 level 142 7.70805e-91 5.1899060598591545e-89 2.043912 983 0.02414403 814 0.01973328147788698 1.152686 121 148 0.009085448 Mouse Phenotype increased body temperature 187 3.669218e-75 1.876010336791444e-73 2.964351 394 0.009677261 926 0.03486094443304536 1.289048 32 35 0.002402763 Mouse Phenotype increased IgG1 level 189 7.149879e-75 3.6169308528571434e-73 2.083063 772 0.01896154 872 0.02791816385779817 1.179709 82 98 0.006157081 Mouse Phenotype glomerulonephritis 193 1.763921e-74 8.738263565284974e-73 2.021878 826 0.02028786 1004 0.045585962369521914 1.151415 98 120 0.007358462 Mouse Phenotype abnormal T-helper 2 physiology 224 3.18477e-69 1.3593565165178571e-67 2.264942 590 0.01449133 817 0.02026600817258262 1.223292 59 68 0.004430095 Mouse Phenotype decreased circulating total protein level 264 2.863308e-62 1.0369730222727272e-60 2.410572 466 0.01144569 790 0.01789873661392405 1.242621 52 59 0.00390449 Mouse Phenotype abnormal bone marrow morphology 275 3.933668e-61 1.3676290817454545e-59 2.137122 591 0.01451589 817 0.02026600817258262 1.223292 59 68 0.004430095 Mouse Phenotype decreased fat cell size 288 2.313727e-59 7.681091613541667e-58 2.012623 663 0.01628432 793 0.01859827904413619 1.211065 67 78 0.005030785 Mouse Phenotype increased B cell proliferation 302 1.548491e-57 4.902358427483444e-56 2.134406 557 0.0136808 490 0.0018686043765918365 1.253241 72 81 0.005406217 Mouse Phenotype increased circulating tumor necrosis factor level 327 5.014706e-56 1.466226424036697e-54 2.11933 551 0.01353343 872 0.02791816385779817 1.179709 82 98 0.006157081 Mouse Phenotype enlarged liver sinusoidal spaces 330 1.344917e-55 3.896591344545455e-54 2.440015 405 0.009947438 893 0.03043091782306831 1.272346 37 41 0.002778195 Mouse Phenotype increased respiratory quotient 361 1.141426e-51 3.0230398853185594e-50 2.345985 406 0.009972 720 0.012203859587500001 1.258836 50 56 0.003754317 Mouse Phenotype abnormal Mullerian duct morphology 459 1.592551e-42 3.3172941418300656e-41 2.019232 466 0.01144569 775 0.016398311667096772 1.281724 40 44 0.003003454 Mouse Phenotype increased susceptibility to endotoxin shock 488 1.266409e-40 2.4811755018442623e-39 2.08203 412 0.01011937 970 0.04064539792886598 1.197446 62 73 0.004655354 Mouse Phenotype increased megakaryocyte cell number 489 1.360244e-40 2.6595690969325152e-39 2.024626 441 0.01083165 942 0.03769005068152866 1.240709 44 50 0.003303799 Mouse Phenotype abnormal transitional stage T2 B cell morphology 516 4.760811e-38 8.821339916860465e-37 2.449532 271 0.006656187 955 0.03809092388481676 1.312662 27 29 0.002027331