GRIA3

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes composed of multiple subunits, arranged to form ligand-gated ion channels. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. The subunit encoded by this gene belongs to a family of AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate)-sensitive glutamate receptors, and is subject to RNA editing (AGA->GGA; R->G). Alternative splicing at this locus results in different isoforms, which may vary in their signal transduction properties. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.68378863
2vocalization behavior (GO:0071625)5.64259359
3regulation of short-term neuronal synaptic plasticity (GO:0048172)5.61621821
4regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.50377731
5synaptic vesicle exocytosis (GO:0016079)5.39242625
6* ionotropic glutamate receptor signaling pathway (GO:0035235)5.35517116
7locomotory exploration behavior (GO:0035641)5.20538321
8glutamate secretion (GO:0014047)5.12006621
9neuronal action potential propagation (GO:0019227)5.11234738
10protein localization to synapse (GO:0035418)5.11062048
11regulation of glutamate receptor signaling pathway (GO:1900449)5.07588386
12* glutamate receptor signaling pathway (GO:0007215)5.02792615
13neuron cell-cell adhesion (GO:0007158)5.01598641
14synaptic vesicle docking involved in exocytosis (GO:0016081)4.96461218
15positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.88444514
16synaptic vesicle maturation (GO:0016188)4.78892272
17regulation of synaptic vesicle exocytosis (GO:2000300)4.73570500
18regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.71680230
19regulation of long-term neuronal synaptic plasticity (GO:0048169)4.56301038
20* synaptic transmission, glutamatergic (GO:0035249)4.53699112
21* neuron-neuron synaptic transmission (GO:0007270)4.45613175
22gamma-aminobutyric acid signaling pathway (GO:0007214)4.42503046
23exploration behavior (GO:0035640)4.42197447
24regulation of synaptic vesicle transport (GO:1902803)4.31956207
25neurotransmitter-gated ion channel clustering (GO:0072578)4.31595065
26regulation of excitatory postsynaptic membrane potential (GO:0060079)4.25256629
27regulation of neuronal synaptic plasticity (GO:0048168)4.23322467
28presynaptic membrane assembly (GO:0097105)4.14511207
29neurotransmitter secretion (GO:0007269)4.10817457
30negative regulation of synaptic transmission, GABAergic (GO:0032229)4.09868555
31neuron recognition (GO:0008038)4.08281901
32long-term synaptic potentiation (GO:0060291)4.07188984
33regulation of postsynaptic membrane potential (GO:0060078)4.02863535
34long-term memory (GO:0007616)3.99289515
35membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.97501397
36G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.90434559
37regulation of synaptic plasticity (GO:0048167)3.86286536
38regulation of dendritic spine morphogenesis (GO:0061001)3.84288506
39positive regulation of membrane potential (GO:0045838)3.83429432
40presynaptic membrane organization (GO:0097090)3.80267914
41axonal fasciculation (GO:0007413)3.78105106
42G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.75448698
43postsynaptic membrane organization (GO:0001941)3.72802435
44response to histamine (GO:0034776)3.68709742
45positive regulation of synapse maturation (GO:0090129)3.66938983
46dendritic spine morphogenesis (GO:0060997)3.64849978
47regulation of synapse structural plasticity (GO:0051823)3.60392924
48regulation of synaptic transmission, glutamatergic (GO:0051966)3.60054731
49positive regulation of neurotransmitter secretion (GO:0001956)3.58759077
50gamma-aminobutyric acid transport (GO:0015812)3.57882343
51cellular potassium ion homeostasis (GO:0030007)3.54993397
52auditory behavior (GO:0031223)3.53877751
53regulation of vesicle fusion (GO:0031338)3.50784248
54synaptic vesicle endocytosis (GO:0048488)3.49953620
55serotonin metabolic process (GO:0042428)3.49881294
56transmission of nerve impulse (GO:0019226)3.47353871
57regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.47242994
58behavioral fear response (GO:0001662)3.45553792
59behavioral defense response (GO:0002209)3.45553792
60proline transport (GO:0015824)3.41786050
61membrane depolarization (GO:0051899)3.39560426
62positive regulation of neurotransmitter transport (GO:0051590)3.38605154
63negative regulation of dendrite development (GO:2000171)3.38348571
64neurotransmitter transport (GO:0006836)3.36006798
65regulation of dendritic spine development (GO:0060998)3.35980068
66positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.34129287
67layer formation in cerebral cortex (GO:0021819)3.33780089
68startle response (GO:0001964)3.32852257
69regulation of neurotransmitter secretion (GO:0046928)3.32019870
70innervation (GO:0060384)3.29922835
71learning (GO:0007612)3.29390595
72neuronal ion channel clustering (GO:0045161)3.28991850
73fear response (GO:0042596)3.28841535
74positive regulation of synapse assembly (GO:0051965)3.28686827
75long term synaptic depression (GO:0060292)3.27655127
76central nervous system projection neuron axonogenesis (GO:0021952)3.20827916
77positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.19657454
78positive regulation of dendritic spine morphogenesis (GO:0061003)3.19655554
79C4-dicarboxylate transport (GO:0015740)3.19062109
80dendritic spine organization (GO:0097061)3.18481018
81regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.18079447
82pyrimidine nucleobase catabolic process (GO:0006208)3.17765645
83activation of protein kinase A activity (GO:0034199)3.17532224
84cerebellar Purkinje cell differentiation (GO:0021702)3.17522814
85membrane depolarization during action potential (GO:0086010)3.17200605
86dendrite morphogenesis (GO:0048813)3.17054173
87regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)3.16189013
88regulation of glutamate secretion (GO:0014048)3.14654143
89positive regulation of synaptic transmission (GO:0050806)3.14573375
90primary amino compound metabolic process (GO:1901160)3.10424641
91* synaptic transmission (GO:0007268)3.10423875
92regulation of neurotransmitter levels (GO:0001505)3.09551884
93behavioral response to cocaine (GO:0048148)3.09504892
94positive regulation of synaptic transmission, GABAergic (GO:0032230)3.08229912
95positive regulation of dendritic spine development (GO:0060999)3.07727468
96negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.07212243
97detection of calcium ion (GO:0005513)3.06773447
98central nervous system myelination (GO:0022010)3.06731060
99axon ensheathment in central nervous system (GO:0032291)3.06731060
100regulation of synaptic transmission (GO:0050804)3.06703634
101chemosensory behavior (GO:0007635)3.06411238
102regulation of neurotransmitter transport (GO:0051588)3.05957136
103L-amino acid import (GO:0043092)3.00814695
104neuromuscular process controlling balance (GO:0050885)2.98771605
105negative regulation of cytosolic calcium ion concentration (GO:0051481)2.97785329
106regulation of female receptivity (GO:0045924)2.97712458
107mechanosensory behavior (GO:0007638)2.96530274
108nucleobase catabolic process (GO:0046113)2.95737672
109vesicle transport along microtubule (GO:0047496)2.94996357
110cerebellar granule cell differentiation (GO:0021707)2.94860448
111response to auditory stimulus (GO:0010996)2.93563165
112synapse assembly (GO:0007416)2.92962674
113cochlea development (GO:0090102)2.92590601
114membrane hyperpolarization (GO:0060081)2.92118419
115regulation of synapse maturation (GO:0090128)2.91309502
116regulation of respiratory system process (GO:0044065)2.89427134
117potassium ion import (GO:0010107)2.87052356
118regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.86197639
119cell migration in hindbrain (GO:0021535)2.83536036
120regulation of synapse assembly (GO:0051963)2.83011559
121neuronal action potential (GO:0019228)2.82994040
122establishment of mitochondrion localization (GO:0051654)2.80206388
123sodium ion export (GO:0071436)2.80200592
124cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.79755306
125potassium ion homeostasis (GO:0055075)2.78655875
126central nervous system neuron axonogenesis (GO:0021955)2.76597372
127glycosphingolipid biosynthetic process (GO:0006688)2.74138210

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.44049362
2GBX2_23144817_ChIP-Seq_PC3_Human4.36996997
3* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.18069725
4JARID2_20064375_ChIP-Seq_MESCs_Mouse3.12559355
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.05746796
6* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.75426683
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.64909556
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.64909556
9REST_21632747_ChIP-Seq_MESCs_Mouse2.57245260
10SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.56079385
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.54987190
12* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.48527074
13EZH2_27304074_Chip-Seq_ESCs_Mouse2.45625579
14RARB_27405468_Chip-Seq_BRAIN_Mouse2.45325526
15MTF2_20144788_ChIP-Seq_MESCs_Mouse2.43068564
16TAF15_26573619_Chip-Seq_HEK293_Human2.38909808
17EED_16625203_ChIP-ChIP_MESCs_Mouse2.36670480
18SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.34358267
19DROSHA_22980978_ChIP-Seq_HELA_Human2.31707106
20CTBP2_25329375_ChIP-Seq_LNCAP_Human2.20409498
21IKZF1_21737484_ChIP-ChIP_HCT116_Human2.15795298
22CTBP1_25329375_ChIP-Seq_LNCAP_Human2.11039198
23RNF2_27304074_Chip-Seq_ESCs_Mouse2.09596525
24SUZ12_27294783_Chip-Seq_ESCs_Mouse2.01656344
25EZH2_27294783_Chip-Seq_ESCs_Mouse1.97802517
26REST_18959480_ChIP-ChIP_MESCs_Mouse1.97250148
27ZFP57_27257070_Chip-Seq_ESCs_Mouse1.96683308
28AR_21572438_ChIP-Seq_LNCaP_Human1.95790635
29GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.94251176
30SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.93941607
31ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.93188236
32* SMAD4_21799915_ChIP-Seq_A2780_Human1.92418063
33P300_19829295_ChIP-Seq_ESCs_Human1.80373509
34GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.71696249
35CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.70743682
36MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.69810852
37* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.68633563
38TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.65488204
39* FUS_26573619_Chip-Seq_HEK293_Human1.64717084
40POU3F2_20337985_ChIP-ChIP_501MEL_Human1.62132141
41NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.60093537
42ZNF274_21170338_ChIP-Seq_K562_Hela1.59774041
43SMAD_19615063_ChIP-ChIP_OVARY_Human1.52662487
44* SMAD3_21741376_ChIP-Seq_EPCs_Human1.45889833
45PIAS1_25552417_ChIP-Seq_VCAP_Human1.45584697
46AR_25329375_ChIP-Seq_VCAP_Human1.44972228
47TP53_16413492_ChIP-PET_HCT116_Human1.44057767
48SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.43529082
49MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.41853948
50* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.40856096
51* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.40326112
52* PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.39568184
53STAT3_23295773_ChIP-Seq_U87_Human1.36660470
54TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.35972988
55SOX2_21211035_ChIP-Seq_LN229_Gbm1.35463001
56NR3C1_23031785_ChIP-Seq_PC12_Mouse1.34301199
57IGF1R_20145208_ChIP-Seq_DFB_Human1.32713935
58CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.32122528
59RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.31969669
60SALL1_21062744_ChIP-ChIP_HESCs_Human1.31458659
61* CBX2_27304074_Chip-Seq_ESCs_Mouse1.30897638
62BMI1_23680149_ChIP-Seq_NPCS_Mouse1.30816203
63FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.28521149
64TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.27028443
65* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.25830474
66* TCF4_23295773_ChIP-Seq_U87_Human1.25625446
67PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.25386014
68EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.20523433
69* LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.19207799
70TP53_18474530_ChIP-ChIP_U2OS_Human1.18306896
71CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.18210584
72AR_19668381_ChIP-Seq_PC3_Human1.18120197
73AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.17964800
74ERG_21242973_ChIP-ChIP_JURKAT_Human1.17903997
75PRDM14_20953172_ChIP-Seq_ESCs_Human1.17494667
76UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.16533285
77VDR_22108803_ChIP-Seq_LS180_Human1.15088718
78ARNT_22903824_ChIP-Seq_MCF-7_Human1.14880508
79FLI1_27457419_Chip-Seq_LIVER_Mouse1.14693693
80RING1B_27294783_Chip-Seq_ESCs_Mouse1.14493631
81NANOG_18555785_Chip-Seq_ESCs_Mouse1.14293494
82TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.13001533
83* RUNX2_22187159_ChIP-Seq_PCA_Human1.12267988
84RNF2_27304074_Chip-Seq_NSC_Mouse1.09855968
85ZNF217_24962896_ChIP-Seq_MCF-7_Human1.08970185
86ER_23166858_ChIP-Seq_MCF-7_Human1.08371325
87P53_22127205_ChIP-Seq_FIBROBLAST_Human1.08210608
88JUN_21703547_ChIP-Seq_K562_Human1.07883249
89* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.07817183
90BCAT_22108803_ChIP-Seq_LS180_Human1.06993710
91KDM2B_26808549_Chip-Seq_REH_Human1.06212701
92CDX2_19796622_ChIP-Seq_MESCs_Mouse1.05638982
93EWS_26573619_Chip-Seq_HEK293_Human1.05270879
94CBP_20019798_ChIP-Seq_JUKART_Human1.04522572
95IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.04522572
96RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.04287707
97MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.04195731
98CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.01809193
99POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.01041619
100TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.01041619
101TAL1_26923725_Chip-Seq_HPCs_Mouse1.00195866
102* KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.00158238
103E2F1_18555785_Chip-Seq_ESCs_Mouse0.99804121
104* NR3C1_21868756_ChIP-Seq_MCF10A_Human0.99727620
105* WT1_25993318_ChIP-Seq_PODOCYTE_Human0.99496071
106VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.98727000
107AHR_22903824_ChIP-Seq_MCF-7_Human0.98137448
108RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.97090608
109P53_22387025_ChIP-Seq_ESCs_Mouse0.96781074
110EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.96456992
111BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.95319304
112* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.95182512
113RING1B_27294783_Chip-Seq_NPCs_Mouse0.93959158
114SMAD3_21741376_ChIP-Seq_ESCs_Human0.92334526
115SOX9_26525672_Chip-Seq_HEART_Mouse0.91944866

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.66563875
2MP0003880_abnormal_central_pattern5.74274993
3* MP0003635_abnormal_synaptic_transmissio4.31740064
4MP0004270_analgesia3.72025085
5* MP0009745_abnormal_behavioral_response3.62410565
6MP0002063_abnormal_learning/memory/cond3.53014928
7MP0001968_abnormal_touch/_nociception3.27751330
8* MP0002064_seizures3.27131191
9MP0009046_muscle_twitch3.16125220
10MP0002572_abnormal_emotion/affect_behav3.03706973
11MP0002736_abnormal_nociception_after2.86494724
12MP0001501_abnormal_sleep_pattern2.76363391
13MP0002272_abnormal_nervous_system2.74474265
14* MP0001486_abnormal_startle_reflex2.54234146
15MP0002734_abnormal_mechanical_nocicepti2.50814169
16MP0001440_abnormal_grooming_behavior2.30909719
17MP0002735_abnormal_chemical_nociception2.28162342
18MP0002822_catalepsy2.23997943
19MP0005423_abnormal_somatic_nervous2.16654058
20MP0002067_abnormal_sensory_capabilities2.06703733
21MP0009780_abnormal_chondrocyte_physiolo1.92919090
22MP0003787_abnormal_imprinting1.85935806
23* MP0001970_abnormal_pain_threshold1.79161714
24* MP0002733_abnormal_thermal_nociception1.77343882
25MP0003879_abnormal_hair_cell1.77295219
26MP0008569_lethality_at_weaning1.72483680
27MP0002184_abnormal_innervation1.70691736
28MP0001529_abnormal_vocalization1.68790953
29MP0004924_abnormal_behavior1.67530267
30MP0005386_behavior/neurological_phenoty1.67530267
31MP0000778_abnormal_nervous_system1.65845875
32MP0002557_abnormal_social/conspecific_i1.65392955
33MP0006276_abnormal_autonomic_nervous1.63646311
34MP0001188_hyperpigmentation1.63059569
35MP0003329_amyloid_beta_deposits1.60977726
36MP0005646_abnormal_pituitary_gland1.57886687
37MP0004811_abnormal_neuron_physiology1.55293887
38MP0002909_abnormal_adrenal_gland1.40931907
39MP0002837_dystrophic_cardiac_calcinosis1.37982043
40MP0000955_abnormal_spinal_cord1.37644232
41MP0001984_abnormal_olfaction1.37587472
42* MP0002066_abnormal_motor_capabilities/c1.35913735
43MP0001905_abnormal_dopamine_level1.28495760
44MP0002882_abnormal_neuron_morphology1.27621084
45MP0003122_maternal_imprinting1.26356374
46MP0005645_abnormal_hypothalamus_physiol1.24981505
47MP0004858_abnormal_nervous_system1.24686585
48MP0003633_abnormal_nervous_system1.24522995
49MP0004142_abnormal_muscle_tone1.19958175
50MP0010386_abnormal_urinary_bladder1.18396133
51MP0001502_abnormal_circadian_rhythm1.17241092
52MP0002638_abnormal_pupillary_reflex1.12894066
53MP0005409_darkened_coat_color1.12859799
54MP0004145_abnormal_muscle_electrophysio1.11803559
55MP0001986_abnormal_taste_sensitivity1.09021638
56MP0003631_nervous_system_phenotype1.07636347
57MP0003690_abnormal_glial_cell1.07082280
58MP0005187_abnormal_penis_morphology1.05830241
59MP0000013_abnormal_adipose_tissue1.04819991
60MP0004885_abnormal_endolymph1.01621301
61MP0002876_abnormal_thyroid_physiology1.01473820
62MP0000751_myopathy1.00480517
63MP0002152_abnormal_brain_morphology1.00337935
64MP0002751_abnormal_autonomic_nervous1.00228066
65MP0008874_decreased_physiological_sensi0.97412572
66MP0008872_abnormal_physiological_respon0.96624906
67MP0001177_atelectasis0.94097948
68MP0004043_abnormal_pH_regulation0.90932289
69MP0004484_altered_response_of0.90167460
70MP0004510_myositis0.87750199
71* MP0002069_abnormal_eating/drinking_beha0.86445154
72MP0000569_abnormal_digit_pigmentation0.84399787
73MP0001963_abnormal_hearing_physiology0.83971567
74MP0004742_abnormal_vestibular_system0.83402995
75MP0005551_abnormal_eye_electrophysiolog0.81492429
76MP0004085_abnormal_heartbeat0.81222229
77MP0005171_absent_coat_pigmentation0.78645601
78MP0005535_abnormal_body_temperature0.78184112
79MP0002229_neurodegeneration0.77926874
80MP0004215_abnormal_myocardial_fiber0.76208134
81MP0005253_abnormal_eye_physiology0.75778373
82MP0005379_endocrine/exocrine_gland_phen0.74157397
83MP0003632_abnormal_nervous_system0.72893365
84MP0001485_abnormal_pinna_reflex0.72193634
85MP0004133_heterotaxia0.71773201
86MP0000631_abnormal_neuroendocrine_gland0.71735482
87MP0001664_abnormal_digestion0.71199924
88MP0002102_abnormal_ear_morphology0.69332793
89MP0006292_abnormal_olfactory_placode0.69042343
90MP0003123_paternal_imprinting0.68685640
91MP0001299_abnormal_eye_distance/0.68099906
92MP0000604_amyloidosis0.66648048
93MP0000516_abnormal_urinary_system0.65685402
94MP0005367_renal/urinary_system_phenotyp0.65685402
95MP0006072_abnormal_retinal_apoptosis0.64262915
96MP0003121_genomic_imprinting0.63234034
97MP0002653_abnormal_ependyma_morphology0.63172042
98MP0000920_abnormal_myelination0.62462122
99MP0003861_abnormal_nervous_system0.61200140
100MP0003075_altered_response_to0.60830468
101MP0002752_abnormal_somatic_nervous0.60565205
102MP0003119_abnormal_digestive_system0.59916159
103MP0002234_abnormal_pharynx_morphology0.59512404
104MP0004233_abnormal_muscle_weight0.58429032
105MP0003634_abnormal_glial_cell0.58188915
106MP0000427_abnormal_hair_cycle0.57450559
107MP0010769_abnormal_survival0.57291349
108MP0001944_abnormal_pancreas_morphology0.56795695
109MP0005499_abnormal_olfactory_system0.56715515
110MP0005394_taste/olfaction_phenotype0.56715515
111MP0001943_abnormal_respiration0.55549964
112MP0000639_abnormal_adrenal_gland0.54980024
113MP0001765_abnormal_ion_homeostasis0.53669519
114MP0003283_abnormal_digestive_organ0.52531032
115MP0003183_abnormal_peptide_metabolism0.51445111
116MP0000026_abnormal_inner_ear0.51073046
117MP0005595_abnormal_vascular_smooth0.49425520
118MP0003137_abnormal_impulse_conducting0.49396392
119MP0005623_abnormal_meninges_morphology0.49098644
120MP0010770_preweaning_lethality0.48163056
121MP0002082_postnatal_lethality0.48163056
122MP0008877_abnormal_DNA_methylation0.47926924

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)9.63686062
2Focal seizures (HP:0007359)6.51034224
3Myokymia (HP:0002411)6.11580997
4Epileptic encephalopathy (HP:0200134)5.93293883
5Atonic seizures (HP:0010819)5.87531792
6Febrile seizures (HP:0002373)5.42011594
7Visual hallucinations (HP:0002367)5.10610398
8Absence seizures (HP:0002121)4.94175805
9Progressive cerebellar ataxia (HP:0002073)4.59480699
10Dialeptic seizures (HP:0011146)4.57223188
11Hyperventilation (HP:0002883)4.45721343
12Generalized tonic-clonic seizures (HP:0002069)4.28865737
13Broad-based gait (HP:0002136)4.27374737
14Gaze-evoked nystagmus (HP:0000640)3.89078693
15Limb dystonia (HP:0002451)3.83665010
16Amblyopia (HP:0000646)3.55611675
17Poor eye contact (HP:0000817)3.48591997
18Action tremor (HP:0002345)3.34886875
19Impaired vibration sensation in the lower limbs (HP:0002166)3.29013260
20Dysmetria (HP:0001310)3.21191628
21Excessive salivation (HP:0003781)3.18078785
22Drooling (HP:0002307)3.18078785
23Truncal ataxia (HP:0002078)3.17320097
24Dysdiadochokinesis (HP:0002075)3.14668190
25Absent speech (HP:0001344)3.12096552
26Impaired smooth pursuit (HP:0007772)3.06523686
27Abnormal social behavior (HP:0012433)2.99896186
28Impaired social interactions (HP:0000735)2.99896186
29Depression (HP:0000716)2.98944562
30Protruding tongue (HP:0010808)2.97489263
31Epileptiform EEG discharges (HP:0011182)2.94547934
32Papilledema (HP:0001085)2.93887126
33Supranuclear gaze palsy (HP:0000605)2.91067714
34Anxiety (HP:0000739)2.90051988
35Genetic anticipation (HP:0003743)2.83549917
36Scanning speech (HP:0002168)2.77939984
37Abnormality of binocular vision (HP:0011514)2.76752544
38Diplopia (HP:0000651)2.76752544
39Abnormal eating behavior (HP:0100738)2.73763903
40Urinary bladder sphincter dysfunction (HP:0002839)2.71837366
41Hemiparesis (HP:0001269)2.66161963
42Dysmetric saccades (HP:0000641)2.62178310
43Stereotypic behavior (HP:0000733)2.57325316
44EEG with generalized epileptiform discharges (HP:0011198)2.56236995
45Medial flaring of the eyebrow (HP:0010747)2.56130412
46Abnormality of ocular smooth pursuit (HP:0000617)2.55849162
47Cerebral inclusion bodies (HP:0100314)2.51539810
48Postural instability (HP:0002172)2.49227212
49Status epilepticus (HP:0002133)2.45641663
50Blue irides (HP:0000635)2.38938653
51Hepatoblastoma (HP:0002884)2.37161490
52Impaired vibratory sensation (HP:0002495)2.33784962
53Bradykinesia (HP:0002067)2.32551319
54Megalencephaly (HP:0001355)2.31097284
55Fair hair (HP:0002286)2.29881797
56Hypsarrhythmia (HP:0002521)2.29274104
57Generalized hypopigmentation of hair (HP:0011358)2.29114980
58Inability to walk (HP:0002540)2.28819569
59Generalized myoclonic seizures (HP:0002123)2.27002234
60Congenital primary aphakia (HP:0007707)2.24619478
61Abnormality of the lower motor neuron (HP:0002366)2.23616151
62Abnormality of salivation (HP:0100755)2.22192583
63Neurofibrillary tangles (HP:0002185)2.21679460
64Spastic tetraplegia (HP:0002510)2.20621901
65Lissencephaly (HP:0001339)2.19203478
66Termporal pattern (HP:0011008)2.16355773
67Insidious onset (HP:0003587)2.16355773
68Nephrogenic diabetes insipidus (HP:0009806)2.16253977
69Progressive inability to walk (HP:0002505)2.16164190
70Hemiplegia (HP:0002301)2.15474530
71Akinesia (HP:0002304)2.15311799
72Urinary urgency (HP:0000012)2.15301916
73Abnormality of the labia minora (HP:0012880)2.15276226
74Focal dystonia (HP:0004373)2.14872488
75Torticollis (HP:0000473)2.14073036
76Fetal akinesia sequence (HP:0001989)2.13438435
77Inappropriate behavior (HP:0000719)2.12856520
78Ankle clonus (HP:0011448)2.09772513
79Agitation (HP:0000713)2.07644582
80Mutism (HP:0002300)2.06971954
81Gait ataxia (HP:0002066)2.03968644
82Widely spaced teeth (HP:0000687)2.03288886
83Degeneration of the lateral corticospinal tracts (HP:0002314)2.01550534
84Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.01550534
85Incomplete penetrance (HP:0003829)1.98659008
86Genital tract atresia (HP:0001827)1.98352682
87Spastic gait (HP:0002064)1.96429279
88Ankyloglossia (HP:0010296)1.95113800
89Hydroureter (HP:0000072)1.94486080
90Pancreatic fibrosis (HP:0100732)1.92131043
91Thickened helices (HP:0000391)1.91355891
92Psychosis (HP:0000709)1.91301615
93Intention tremor (HP:0002080)1.90964116
94Astrocytoma (HP:0009592)1.90017069
95Abnormality of the astrocytes (HP:0100707)1.90017069
96Increased circulating renin level (HP:0000848)1.89927427
97Specific learning disability (HP:0001328)1.88567141
98Peripheral hypomyelination (HP:0007182)1.88471740
99Vaginal atresia (HP:0000148)1.87882735
100Optic nerve hypoplasia (HP:0000609)1.87206925
101Retinal dysplasia (HP:0007973)1.87144834
102Polyphagia (HP:0002591)1.86990148
103Sleep apnea (HP:0010535)1.86670019
104Nephronophthisis (HP:0000090)1.86651687
105Resting tremor (HP:0002322)1.86497641
106Hypothermia (HP:0002045)1.85461180
107Prolonged QT interval (HP:0001657)1.84469251
108Lower limb amyotrophy (HP:0007210)1.84336776
109Esotropia (HP:0000565)1.83349009
110Abnormal hair whorl (HP:0010721)1.82245418
111Muscular hypotonia of the trunk (HP:0008936)1.81358131
112Craniofacial dystonia (HP:0012179)1.79471218
113Pheochromocytoma (HP:0002666)1.79010171
114Delusions (HP:0000746)1.78683577
115Neuronal loss in central nervous system (HP:0002529)1.78675063
116True hermaphroditism (HP:0010459)1.77984149
117Gait imbalance (HP:0002141)1.76676443
118Pachygyria (HP:0001302)1.76676134
119Intellectual disability, severe (HP:0010864)1.76551588
120Clumsiness (HP:0002312)1.76339151
121Hypoventilation (HP:0002791)1.76189288
122Abnormality of the corticospinal tract (HP:0002492)1.75567275
123Cerebral hypomyelination (HP:0006808)1.75319022
124Exotropia (HP:0000577)1.75243209
125Type II lissencephaly (HP:0007260)1.73213424
126Pancreatic cysts (HP:0001737)1.72366469
127Annular pancreas (HP:0001734)1.71369181
128* Deeply set eye (HP:0000490)1.71205201
129Absent/shortened dynein arms (HP:0200106)1.68215911
130Dynein arm defect of respiratory motile cilia (HP:0012255)1.68215911
131Lower limb muscle weakness (HP:0007340)1.67348817
132Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.67012749
133Macroglossia (HP:0000158)1.66987336
134Neuroendocrine neoplasm (HP:0100634)1.66552731
135Poor coordination (HP:0002370)1.65660469
136Gastroesophageal reflux (HP:0002020)1.65009591

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA45.38869361
2NTRK34.85104880
3RIPK43.79389555
4FRK3.41884806
5MAP3K43.14578713
6MAP3K93.05055298
7MAP2K72.97662126
8CASK2.82242419
9MAP3K122.64469674
10MINK12.34978880
11DAPK22.27055956
12PLK22.09156452
13DAPK12.07158071
14MAP2K42.06089175
15PINK12.01516740
16TNIK1.90770283
17CDK191.83092450
18PAK61.80070569
19BMPR21.78324861
20KSR21.65950033
21PNCK1.65806574
22MARK11.62603209
23KSR11.62049358
24MAP3K131.59455967
25ARAF1.56792620
26PRPF4B1.55560566
27PHKG11.53626351
28PHKG21.53626351
29NTRK11.52343218
30NTRK21.49701826
31FES1.46323316
32SIK21.44908368
33CDK51.41898143
34CAMKK11.38984321
35PTK2B1.34267928
36PRKCG1.27933048
37MAPK131.26375418
38FGFR21.26093255
39GRK51.24225119
40MAP4K21.17920652
41PRKD31.15382555
42CAMK2A1.14032488
43CAMK2B1.12083731
44RAF11.11439844
45CAMKK21.06596750
46NME10.99189848
47CSNK1G10.98102265
48CSNK1G30.95123243
49OXSR10.94394746
50STK380.94353880
51DYRK20.91427329
52ADRBK20.91063630
53PKN10.89383494
54AKT30.88927885
55CCNB10.87494467
56ERBB30.86227193
57SGK20.84264371
58CDK180.83351329
59CAMK10.79799559
60UHMK10.79495989
61CDK150.79177506
62FGR0.77713550
63SGK10.77327030
64MAP3K20.75278869
65CDK140.75035354
66MAP3K60.74010791
67TAOK10.73523083
68SGK2230.73517649
69SGK4940.73517649
70SIK30.69656109
71CSNK1A1L0.68635980
72DYRK1A0.67998026
73CDK11A0.67954570
74MKNK20.66038595
75STK110.65389798
76TNK20.64490154
77STK38L0.64486312
78TYRO30.62801463
79RET0.62094963
80TRIM280.62008416
81PRKCE0.59293714
82BCR0.58886600
83PRKG10.58135386
84CAMK2D0.58074883
85SGK30.58028003
86PDK10.56796449
87BRAF0.56294127
88GRK10.55716634
89PAK30.54781772
90CSNK1A10.52744975
91PDPK10.52033002
92CSNK1D0.49904044
93NEK60.49680304
94INSRR0.48633573
95ROCK10.47457667
96FER0.46215994
97MAP3K10.46085711
98PRKACA0.45954368
99PRKCH0.45068376
100CAMK2G0.44649916
101DMPK0.44355997
102ADRBK10.42047208
103MARK20.41660395
104BMPR1B0.41613782
105CSNK1G20.39463709
106RPS6KA30.39235230
107FYN0.38322621
108CSNK1E0.37405037
109ROCK20.36754963
110WNK10.36369531
111MAPK100.36257529
112WNK30.36045513
113CDK30.35968599
114MAP3K70.35720908
115CAMK1G0.35201076
116MAP2K10.33935824
117LATS20.33215819
118PRKCZ0.32809058
119PRKCB0.32557250
120CDC42BPA0.32136894
121MAPK120.30891377
122DAPK30.30765832
123LIMK10.30705458
124PRKACB0.29618072
125PRKCA0.28272975
126CAMK40.28221713
127MOS0.27924709
128MAPKAPK50.27434665
129GRK60.27355969
130GRK70.27133934
131PRKCQ0.26948796

Predicted pathways (KEGG)

RankGene SetZ-score
1* Nicotine addiction_Homo sapiens_hsa050334.24323623
2Long-term potentiation_Homo sapiens_hsa047203.08380393
3Synaptic vesicle cycle_Homo sapiens_hsa047213.04503885
4* Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.91940413
5* Circadian entrainment_Homo sapiens_hsa047132.82014326
6* Amphetamine addiction_Homo sapiens_hsa050312.71893738
7* Glutamatergic synapse_Homo sapiens_hsa047242.70886002
8GABAergic synapse_Homo sapiens_hsa047272.68394924
9Morphine addiction_Homo sapiens_hsa050322.66714597
10Olfactory transduction_Homo sapiens_hsa047402.55588809
11Salivary secretion_Homo sapiens_hsa049702.39303263
12* Dopaminergic synapse_Homo sapiens_hsa047282.20114223
13Taste transduction_Homo sapiens_hsa047422.10905015
14Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.05126982
15Insulin secretion_Homo sapiens_hsa049112.03800858
16Renin secretion_Homo sapiens_hsa049241.94903319
17Gastric acid secretion_Homo sapiens_hsa049711.90946628
18Calcium signaling pathway_Homo sapiens_hsa040201.85333192
19Collecting duct acid secretion_Homo sapiens_hsa049661.84879932
20Aldosterone synthesis and secretion_Homo sapiens_hsa049251.84465314
21Serotonergic synapse_Homo sapiens_hsa047261.84156167
22Cholinergic synapse_Homo sapiens_hsa047251.78143616
23Oxytocin signaling pathway_Homo sapiens_hsa049211.76527525
24* Long-term depression_Homo sapiens_hsa047301.76019120
25Cocaine addiction_Homo sapiens_hsa050301.64748990
26Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.57364658
27Butanoate metabolism_Homo sapiens_hsa006501.47685700
28GnRH signaling pathway_Homo sapiens_hsa049121.44209338
29Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.38884544
30* cAMP signaling pathway_Homo sapiens_hsa040241.36293438
31Gap junction_Homo sapiens_hsa045401.30846359
32Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.30574243
33* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.26200377
34Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.25281150
35Vibrio cholerae infection_Homo sapiens_hsa051101.24795679
36Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.20371505
37Phosphatidylinositol signaling system_Homo sapiens_hsa040701.18348932
38Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.14329589
39cGMP-PKG signaling pathway_Homo sapiens_hsa040221.14268311
40Vitamin B6 metabolism_Homo sapiens_hsa007501.10385679
41Estrogen signaling pathway_Homo sapiens_hsa049151.09171672
42Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.06915785
43Glioma_Homo sapiens_hsa052141.06202881
44Axon guidance_Homo sapiens_hsa043601.05037543
45Melanogenesis_Homo sapiens_hsa049161.03124868
46Vascular smooth muscle contraction_Homo sapiens_hsa042701.03103498
47Type II diabetes mellitus_Homo sapiens_hsa049301.02312226
48Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.99053358
49ErbB signaling pathway_Homo sapiens_hsa040120.96142759
50Pancreatic secretion_Homo sapiens_hsa049720.95710867
51Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.94160200
52Cardiac muscle contraction_Homo sapiens_hsa042600.93063521
53Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.92026378
54Maturity onset diabetes of the young_Homo sapiens_hsa049500.87282770
55Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.87232794
56Thyroid hormone synthesis_Homo sapiens_hsa049180.86606632
57Phototransduction_Homo sapiens_hsa047440.85807305
58Oocyte meiosis_Homo sapiens_hsa041140.84456279
59Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.77761975
60Choline metabolism in cancer_Homo sapiens_hsa052310.73727908
61Dilated cardiomyopathy_Homo sapiens_hsa054140.72942814
62MAPK signaling pathway_Homo sapiens_hsa040100.71737655
63Alzheimers disease_Homo sapiens_hsa050100.71724314
64African trypanosomiasis_Homo sapiens_hsa051430.69210479
65Phospholipase D signaling pathway_Homo sapiens_hsa040720.68861991
66Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.67566338
67Nitrogen metabolism_Homo sapiens_hsa009100.67330162
68VEGF signaling pathway_Homo sapiens_hsa043700.65089392
69Bile secretion_Homo sapiens_hsa049760.62380491
70beta-Alanine metabolism_Homo sapiens_hsa004100.61693867
71Dorso-ventral axis formation_Homo sapiens_hsa043200.61683142
72Glucagon signaling pathway_Homo sapiens_hsa049220.61468028
73Ether lipid metabolism_Homo sapiens_hsa005650.61291358
74Ras signaling pathway_Homo sapiens_hsa040140.54760057
75Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.54048911
76Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.53321841
77Oxidative phosphorylation_Homo sapiens_hsa001900.53123920
78Rap1 signaling pathway_Homo sapiens_hsa040150.52287558
79Selenocompound metabolism_Homo sapiens_hsa004500.51133155
80Type I diabetes mellitus_Homo sapiens_hsa049400.50871464
81Sphingolipid signaling pathway_Homo sapiens_hsa040710.49403253
82Neurotrophin signaling pathway_Homo sapiens_hsa047220.49355060
83Inositol phosphate metabolism_Homo sapiens_hsa005620.48957128
84Wnt signaling pathway_Homo sapiens_hsa043100.48083957
85Carbohydrate digestion and absorption_Homo sapiens_hsa049730.47501460
86Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.46776649
87Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.44940460
88Sphingolipid metabolism_Homo sapiens_hsa006000.44192253
89Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.43993787
90Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.42629791
91Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.41834856
92Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.40791349
93Alcoholism_Homo sapiens_hsa050340.40362851
94Thyroid hormone signaling pathway_Homo sapiens_hsa049190.40210811
95Circadian rhythm_Homo sapiens_hsa047100.40026883
96Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.39729660
97Histidine metabolism_Homo sapiens_hsa003400.38952886
98Rheumatoid arthritis_Homo sapiens_hsa053230.38087321
99Tryptophan metabolism_Homo sapiens_hsa003800.37942471
100Fatty acid biosynthesis_Homo sapiens_hsa000610.37865420
101Non-small cell lung cancer_Homo sapiens_hsa052230.37673190
102Mineral absorption_Homo sapiens_hsa049780.36835071
103Protein export_Homo sapiens_hsa030600.36819648
104Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.36557079
105Sulfur metabolism_Homo sapiens_hsa009200.36093960
106ABC transporters_Homo sapiens_hsa020100.35829559
107Tight junction_Homo sapiens_hsa045300.34913757
108Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.33654853
109Fatty acid metabolism_Homo sapiens_hsa012120.33094332
110Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.32680339
111Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.32224387
112Linoleic acid metabolism_Homo sapiens_hsa005910.31954647
113mTOR signaling pathway_Homo sapiens_hsa041500.31929887
114Hedgehog signaling pathway_Homo sapiens_hsa043400.31820620
115Regulation of autophagy_Homo sapiens_hsa041400.31819271
116Chemokine signaling pathway_Homo sapiens_hsa040620.29366056
117Ovarian steroidogenesis_Homo sapiens_hsa049130.27369959
118Longevity regulating pathway - mammal_Homo sapiens_hsa042110.25563990
119Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.25483804
120Platelet activation_Homo sapiens_hsa046110.23358062
121Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.22505362
122Regulation of actin cytoskeleton_Homo sapiens_hsa048100.22305943
123Endocytosis_Homo sapiens_hsa041440.22208274
124Prion diseases_Homo sapiens_hsa050200.21903075
125Parkinsons disease_Homo sapiens_hsa050120.21726171
126SNARE interactions in vesicular transport_Homo sapiens_hsa041300.20904034

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