# 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 binding 74 4.27217e-7 0.00007596957436486486 2.172143 51 0.0433305 118 0.004318469322203389 2.109361 32 166 0.01864802 GO Biological Process establishment of epithelial cell polarity 98 0.000002367724 0.00031792734812244897 3.807893 18 0.01529312 246 0.032263396675609755 3.51717 9 28 0.005244755 GO Biological Process positive regulation of T cell receptor signaling pathway 125 0.000006968463 0.000733584036936 8.422136 8 0.006796941 242 0.030621085439256197 5.050296 6 13 0.003496503 GO Biological Process mammary gland epithelium development 192 0.0000561015 0.0038449981171875 2.406623 26 0.02209006 183 0.018882323686885243 2.836895 14 54 0.008158508 GO Biological Process nuclear migration 235 0.0001467569 0.008217761902553192 6.365093 7 0.005947324 203 0.02130141971083744 5.471154 6 12 0.003496503 GO Biological Process membrane depolarization 256 0.0002224009 0.011431927512109375 2.513725 20 0.01699235 154 0.010888593990909091 2.778999 16 63 0.009324009 GO Biological Process positive regulation of interleukin-13 secretion 285 0.0003034561 0.014011153754035086 6.813941 6 0.005097706 275 0.042901890537454544 7.294872 4 6 0.002331002 GO Biological Process regulation of stress fiber assembly 290 0.0003289366 0.014925781791034484 2.224982 24 0.02039082 43 0.0005365380274651163 3.105249 21 74 0.01223776 GO Biological Process regulation of actin filament bundle assembly 332 0.0005573896 0.022092438995180725 2.103717 25 0.02124044 64 0.0011007577519375 2.832127 22 85 0.01282051 GO Biological Process thymic T cell selection 343 0.0006450751 0.024747939477842568 3.572906 10 0.008496177 284 0.045754329512323944 4.031377 7 19 0.004079254 GO Biological Process trachea cartilage development 368 0.0008400156 0.030037405653260872 4.737593 7 0.005947324 188 0.01962156688617021 6.838942 5 8 0.002913753 GO Biological Process positive regulation of transcription initiation from RNA polymerase II promoter 401 0.001132409 0.0371605237680798 3.595217 9 0.007646559 284 0.045754329512323944 4.031377 7 19 0.004079254 GO Biological Process cardiac vascular smooth muscle cell differentiation 410 0.001205946 0.03870498393658536 6.470736 5 0.004248088 275 0.042901890537454544 7.294872 4 6 0.002331002 GO Cellular Component extrinsic component of membrane 27 2.29995e-8 0.000001471968 2.160655 63 0.05352591 3 0.001507693248 1.997075 48 263 0.02797203 GO Cellular Component cytoplasmic side of plasma membrane 35 0.000001688185 0.00008334810514285715 2.285749 41 0.03483432 5 0.011275258751999999 2.099396 33 172 0.01923077 GO Cellular Component extrinsic component of cytoplasmic side of plasma membrane 39 0.000004378989 0.00019402289723076922 2.576328 30 0.02548853 8 0.00840901608 2.409315 24 109 0.01398601 GO Cellular Component cytoplasmic side of membrane 40 0.000004731998 0.00020442231359999997 2.164712 42 0.03568394 18 0.0114580032 1.947845 34 191 0.01981352 GO Cellular Component extrinsic component of plasma membrane 44 0.00000907527 0.0003564106036363637 2.202327 38 0.03228547 11 0.006623719330909091 2.159666 30 152 0.01748252 GO Molecular Function phosphoprotein binding 15 4.111102e-7 0.00011571381762666667 2.969765 29 0.02463891 6 0.009403372096666666 2.842158 20 77 0.01165501 Human Phenotype Prominent fingertip pads 23 0.0000824205 0.023912695499999997 8.696388 6 0.005097706 3 0.030598285226666664 8.206731 6 8 0.003496503 Mouse Phenotype Single KO incomplete rostral neuropore closure 79 0.0002727541 0.031615307515189865 2.301747 23 0.01954121 40 0.018363823236999997 2.776406 17 67 0.00990676 Mouse Phenotype Single KO abnormal neural fold formation 84 0.0002858238 0.03115819686428571 3.060142 14 0.01189465 45 0.022664999422222224 3.907967 10 28 0.005827506 Mouse Phenotype Single KO abnormal thymus medulla morphology 92 0.0003393492 0.03377631113478261 3.007187 14 0.01189465 34 0.014608054370588236 3.882754 11 31 0.006410256 Mouse Phenotype Single KO abnormal neuropore morphology 101 0.0003935184 0.03567770285940594 2.24075 23 0.01954121 49 0.026910498161224487 2.657418 17 70 0.00990676 Mouse Phenotype abnormal thymus lobule morphology 71 0.00001291827 0.0017395997108450704 2.352466 32 0.02718777 66 0.0036019734754545456 2.420865 25 113 0.01456876 Mouse Phenotype vesicoureteral reflux 76 0.00001612038 0.0020279862260526318 11.70227 6 0.005097706 193 0.03775104871088083 10.94231 3 3 0.001748252 Mouse Phenotype increased B cell apoptosis 95 0.00006186463 0.006226186604526317 2.773216 20 0.01699235 218 0.04427971018348623 2.735577 12 48 0.006993007 Mouse Phenotype decreased susceptibility to weight gain 99 0.00007259015 0.00701044872878788 2.062967 35 0.02973662 222 0.04636055685135135 1.896667 26 150 0.01515152 Mouse Phenotype decreased fetal derived definitive erythrocyte cell number 115 0.0001045254 0.008690150864347825 5.716811 8 0.006796941 175 0.03186104908285714 6.07906 5 9 0.002913753 Mouse Phenotype impaired neutrophil phagocytosis 118 0.0001073147 0.00869521903983051 6.701256 7 0.005947324 168 0.032048454926785715 5.050296 6 13 0.003496503 Mouse Phenotype abnormal thymus medulla morphology 128 0.0001507531 0.011260549914843751 2.757657 18 0.01529312 150 0.025169925282 2.735577 14 56 0.008158508 Mouse Phenotype decreased brown adipose tissue amount 129 0.0001650326 0.012231602237209302 2.948542 16 0.01359388 221 0.0463721911357466 2.865842 11 42 0.006410256 Mouse Phenotype thin lung-associated mesenchyme 130 0.0001684578 0.012389423275384616 15.02763 4 0.003398471 193 0.03775104871088083 10.94231 3 3 0.001748252 Mouse Phenotype enlarged liver sinusoidal spaces 169 0.0004554633 0.02576736456390533 2.917648 14 0.01189465 204 0.04036958839705883 2.935741 11 41 0.006410256 Mouse Phenotype abnormal neural fold formation 179 0.0005334997 0.028496037048603352 2.870167 14 0.01189465 186 0.034400986891935485 3.218326 10 34 0.005827506 Mouse Phenotype abnormal zigzag hair morphology 195 0.0007072626 0.03467762932615385 2.67229 15 0.01274427 199 0.038642386210552764 3.395889 9 29 0.005244755