# 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 membrane depolarization 30 5.854123e-11 2.5678134852333332e-8 2.103519 95 0.01421943 232 0.0003423465859137931 1.912605 36 63 0.006417112 GO Biological Process peptide hormone secretion 41 1.701341e-10 5.460474687560976e-8 2.068619 94 0.01406975 260 0.0008377368619615386 1.904361 33 58 0.005882353 GO Biological Process peptide secretion 43 2.017642e-10 6.174453739069767e-8 2.061534 94 0.01406975 284 0.001243050571302817 1.872084 33 59 0.005882353 GO Biological Process synaptic vesicle exocytosis 50 6.438764e-10 1.69455390952e-7 2.021981 93 0.01392007 417 0.008576392450359712 1.727514 32 62 0.0057041 GO Biological Process regulation of neuronal synaptic plasticity 58 2.081264e-9 4.721957409655172e-7 2.074699 82 0.01227361 428 0.009574214766588785 1.807412 27 50 0.004812834 GO Biological Process regulation of type B pancreatic cell apoptotic process 60 2.574772e-9 5.646904124666667e-7 4.052812 27 0.004041311 366 0.004965660106010929 3.012353 9 10 0.001604278 GO Biological Process regulation of short-term neuronal synaptic plasticity 116 6.731141e-8 0.000007635783139568965 2.739167 38 0.005687771 338 0.003390207285414201 2.677647 12 15 0.002139037 GO Biological Process regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity 172 0.000001034028 0.00007910915379069768 2.323404 42 0.006286484 493 0.015666507506288032 2.290093 13 19 0.002317291 GO Biological Process positive regulation of intrinsic apoptotic signaling pathway 241 0.000008380925 0.00045761241524896264 2.014056 48 0.007184553 584 0.03352944745547945 1.673529 27 54 0.004812834 GO Biological Process glutamine family amino acid catabolic process 354 0.00004745319 0.0017639449921186441 2.072682 37 0.005538093 457 0.012294859699781181 2.142118 16 25 0.00285205 GO Biological Process regulation of systemic arterial blood pressure by endothelin 553 0.0003092509 0.007358829282278482 3.044753 14 0.002095495 636 0.049193307660377356 3.347059 5 5 0.0008912656 GO Biological Process stress fiber assembly 889 0.002136931 0.031630905544431945 2.312586 16 0.002394851 598 0.03591553205351171 2.510294 9 12 0.001604278 GO Cellular Component postsynaptic density membrane 58 1.324642e-7 0.000003946519613793103 2.797999 35 0.005238737 88 0.024597844363636365 2.928676 7 8 0.001247772 GO Cellular Component clathrin-sculpted vesicle 79 0.000003141688 0.00006871945397468355 3.027751 24 0.003592277 94 0.0300038154893617 2.510294 9 12 0.001604278 GO Cellular Component axon initial segment 87 0.00001008918 0.00020039198896551724 2.685697 26 0.003891633 94 0.0300038154893617 2.510294 9 12 0.001604278 GO Cellular Component clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane 98 0.00002700356 0.0004761444048979592 2.960952 20 0.002993564 88 0.024597844363636365 2.928676 7 8 0.001247772 GO Cellular Component G-protein coupled receptor dimeric complex 156 0.0007108689 0.007874240123076923 2.678823 15 0.002245173 68 0.005385807529411765 3.347059 7 7 0.001247772 GO Cellular Component ribbon synapse 200 0.003241237 0.028004287680000003 2.362795 14 0.002095495 104 0.03950487138461538 3.347059 5 5 0.0008912656 GO Molecular Function sodium channel activity 16 1.648741e-9 4.35061531375e-7 2.221774 71 0.01062715 65 0.01870188811692308 1.859477 25 45 0.004456328 GO Molecular Function neuropeptide hormone activity 93 0.00007246216 0.003289626231397849 2.157186 32 0.004789702 60 0.012044423086666667 2.151681 18 28 0.003208556 GO Molecular Function peptide hormone receptor binding 104 0.0001429123 0.005801689717307692 2.237738 27 0.004041311 63 0.01654575663809524 2.342941 14 20 0.002495544 Mouse Phenotype Single KO absence seizures 5 1.079967e-10 1.9778515638e-7 2.358008 72 0.01077683 99 0.000005720254881717173 2.591271 24 31 0.004278075 Mouse Phenotype Single KO sporadic seizures 22 9.890264e-8 0.00004116597611272728 2.484844 44 0.00658584 514 0.03539098550194553 2.03734 14 23 0.002495544 Mouse Phenotype Single KO abnormal conditioned place preference behavior 34 2.172581e-7 0.00005851271828529411 2.104081 59 0.008831013 240 0.0023324889724583337 2.129947 21 33 0.003743316 Mouse Phenotype Single KO abnormal spike wave discharge 36 2.318857e-7 0.00005898270430277778 2.32878 47 0.007034875 225 0.0016402014330222222 2.510294 15 20 0.002673797 Mouse Phenotype Single KO impaired conditioned place preference behavior 41 3.6111e-7 0.00008065083585365853 2.205816 51 0.007633588 192 0.0008001925527604167 2.409882 18 25 0.003208556 Mouse Phenotype Single KO abnormal hippocampus granule cell layer 75 0.000002336663 0.0002852909745466667 2.459432 35 0.005238737 139 0.00009980589802877698 3.107983 13 14 0.002317291 Mouse Phenotype Single KO pup cannibalization 77 0.000002761318 0.0003283816743636363 2.765828 28 0.004190989 487 0.0301237095687885 2.390756 10 14 0.001782531 Mouse Phenotype Single KO decreased chemically-elicited antinociception 143 0.00002475419 0.0015851336911188812 2.049435 41 0.006136806 259 0.0036161063710424706 2.466254 14 19 0.002495544 Mouse Phenotype Single KO abnormal pituitary intermediate lobe morphology 149 0.000028347 0.0017421038859060402 2.778509 22 0.00329292 451 0.02543388220842572 2.928676 7 8 0.001247772 Mouse Phenotype Single KO abnormal mesangial cell morphology 155 0.00003617035 0.00213685093516129 2.055135 39 0.005837449 468 0.02712741683760684 1.870415 19 34 0.003386809 Mouse Phenotype Single KO abnormal inhibitory postsynaptic potential 168 0.00005831129 0.0031783123960119042 2.642854 22 0.00329292 242 0.0023939232129338837 3.347059 8 8 0.001426025 Mouse Phenotype Single KO mesangial cell hyperplasia 201 0.0001338622 0.006098388882587064 2.057241 33 0.00493938 415 0.02054208124 2.091912 15 24 0.002673797 Mouse Phenotype Single KO clonic seizures 214 0.0001801946 0.0077104764121495315 2.285652 25 0.003741955 305 0.0070675977721311465 2.629832 11 14 0.001960784 Mouse Phenotype Single KO abnormal fornicate gyrus morphology 282 0.0004101169 0.013317164728014185 2.057 28 0.004190989 275 0.004598918445090909 3.012353 9 10 0.001604278 Mouse Phenotype Single KO increased liver cholesterol level 287 0.0004348498 0.013874284385365854 2.113971 26 0.003891633 225 0.0016402014330222222 2.510294 15 20 0.002673797 Mouse Phenotype Single KO abnormal habituation 294 0.0004632502 0.014428510480952382 2.222891 23 0.003442598 381 0.015042590849343833 2.574661 10 13 0.001782531 Mouse Phenotype Single KO abnormal carbon dioxide level 326 0.0006727597 0.018897118321779142 2.433103 18 0.002694207 349 0.010976107580229226 2.975163 8 9 0.001426025 Mouse Phenotype Single KO abnormal nonassociative learning 343 0.0008559869 0.022852105082507287 2.083161 24 0.003592277 383 0.015380498864751957 2.45451 11 15 0.001960784 Mouse Phenotype Single KO absent germinal center B cells 351 0.0008889389 0.023190921673219376 3.731716 9 0.001347104 535 0.04069487188037383 3.347059 5 5 0.0008912656 Mouse Phenotype Single KO abnormal cingulate gyrus morphology 416 0.001562411 0.034391820978365385 2.196666 19 0.002843886 535 0.04069487188037383 3.347059 5 5 0.0008912656 Mouse Phenotype decreased neurotransmitter release 5 2.81749e-10 5.387604377999999e-7 2.353243 69 0.0103278 392 0.004295425591836734 1.990143 22 37 0.003921569 Mouse Phenotype absence seizures 9 9.001068e-10 9.562134572e-7 2.11464 82 0.01227361 146 0.00001257593037739726 2.378173 27 38 0.004812834 Mouse Phenotype decreased paired-pulse facilitation 10 1.055633e-9 0.0000010092907113 2.326175 66 0.009878761 729 0.04218027288065844 1.835484 17 31 0.003030303 Mouse Phenotype abnormal behavioral response to alcohol 48 3.629706e-7 0.00007229920638749999 2.771921 33 0.00493938 803 0.049287466983810715 1.977807 13 22 0.002317291 Mouse Phenotype abnormal NMDA-mediated synaptic currents 58 6.892042e-7 0.00011361174752068964 2.087488 55 0.008232301 789 0.0472381987148289 1.846653 16 29 0.00285205 Mouse Phenotype abnormal spike wave discharge 63 7.952503e-7 0.0001206887002904762 2.225437 47 0.007034875 415 0.0053376482681927705 2.282086 15 22 0.002673797 Mouse Phenotype impaired conditioned place preference behavior 67 0.000001131139 0.0001614152235671642 2.11856 51 0.007633588 351 0.0023105578392307695 2.231373 18 27 0.003208556 Mouse Phenotype enhanced behavioral response to alcohol 85 0.00000213485 0.0002401329511764706 2.804613 28 0.004190989 614 0.023385801136807816 2.301103 11 16 0.001960784 Mouse Phenotype abnormal placenta intervillous maternal lacunae morphology 89 0.000003106801 0.0003337542063033708 3.216704 22 0.00329292 817 0.04883302399755202 2.603268 7 9 0.001247772 Mouse Phenotype clonic seizures 101 0.000005178579 0.0004902217209801981 2.441047 33 0.00493938 415 0.0053376482681927705 2.282086 15 22 0.002673797 Mouse Phenotype abnormal pituitary intermediate lobe morphology 144 0.00002790253 0.0018526117314583335 2.475205 27 0.004041311 785 0.047454872526114654 2.317195 9 13 0.001604278 Mouse Phenotype abnormal inhibitory postsynaptic potential 170 0.00005831129 0.003279495551117647 2.642854 22 0.00329292 333 0.0018164834795495492 3.347059 8 8 0.001426025 Mouse Phenotype retinal deposits 175 0.00006250928 0.0034151498633142856 3.091399 17 0.002544529 817 0.04883302399755202 2.603268 7 9 0.001247772 Mouse Phenotype absent germinal center B cells 205 0.0001392649 0.006495179067804879 3.487499 13 0.001945816 402 0.005040728063432836 3.347059 7 7 0.001247772 Mouse Phenotype enlarged submandibular lymph nodes 281 0.0003907809 0.013296285355516016 3.311079 12 0.001796138 768 0.0460340239375 2.868908 6 7 0.001069519 Mouse Phenotype abnormal carbon dioxide level 349 0.0006727597 0.018430531494842407 2.433103 18 0.002694207 467 0.008564598440042826 2.975163 8 9 0.001426025 Mouse Phenotype small malleus manubrium 386 0.0009653264 0.023910584741968912 2.35516 18 0.002694207 669 0.033979536753363224 3.347059 5 5 0.0008912656 Mouse Phenotype increased brown fat cell lipid droplet size 408 0.001129184 0.026461098588235296 2.115851 22 0.00329292 399 0.004738316580451128 2.789216 10 12 0.001782531 Mouse Phenotype absent Purkinje cell layer 422 0.001263546 0.028627401199052133 2.239 19 0.002843886 817 0.04883302399755202 2.603268 7 9 0.001247772