GABRA5

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: GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. Transcript variants utilizing three different alternative non-coding first exons have been described. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)5.72295810
2vocalization behavior (GO:0071625)5.67018220
3ionotropic glutamate receptor signaling pathway (GO:0035235)5.66464825
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.57768026
5regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.56735915
6locomotory exploration behavior (GO:0035641)5.38773494
7protein localization to synapse (GO:0035418)5.33553635
8regulation of glutamate receptor signaling pathway (GO:1900449)5.19633598
9synaptic vesicle exocytosis (GO:0016079)5.19175362
10glutamate receptor signaling pathway (GO:0007215)5.18847212
11positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.15793280
12exploration behavior (GO:0035640)4.99793126
13neuron cell-cell adhesion (GO:0007158)4.89166480
14synaptic vesicle maturation (GO:0016188)4.85527899
15glutamate secretion (GO:0014047)4.82045698
16regulation of long-term neuronal synaptic plasticity (GO:0048169)4.76959050
17synaptic transmission, glutamatergic (GO:0035249)4.65809671
18L-amino acid import (GO:0043092)4.65456510
19regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.56080021
20regulation of synaptic vesicle exocytosis (GO:2000300)4.54342437
21regulation of neuronal synaptic plasticity (GO:0048168)4.53727126
22neuron recognition (GO:0008038)4.48496141
23neuron-neuron synaptic transmission (GO:0007270)4.37430889
24positive regulation of synapse maturation (GO:0090129)4.31089158
25amino acid import (GO:0043090)4.28085487
26regulation of synaptic vesicle transport (GO:1902803)4.23123977
27dendritic spine morphogenesis (GO:0060997)4.21983977
28synaptic vesicle docking involved in exocytosis (GO:0016081)4.21228337
29neuronal action potential propagation (GO:0019227)4.18505006
30regulation of excitatory postsynaptic membrane potential (GO:0060079)4.16548408
31layer formation in cerebral cortex (GO:0021819)4.08362788
32long-term memory (GO:0007616)4.08227831
33regulation of dendritic spine morphogenesis (GO:0061001)4.02947434
34regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)4.02374484
35axonal fasciculation (GO:0007413)4.00916600
36regulation of synapse structural plasticity (GO:0051823)3.99861129
37regulation of synaptic plasticity (GO:0048167)3.95251371
38regulation of postsynaptic membrane potential (GO:0060078)3.94849428
39neurotransmitter-gated ion channel clustering (GO:0072578)3.91704256
40long-term synaptic potentiation (GO:0060291)3.91186447
41synaptic vesicle endocytosis (GO:0048488)3.90327060
42positive regulation of dendritic spine morphogenesis (GO:0061003)3.89590055
43proline transport (GO:0015824)3.86610714
44G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.84877340
45neurotransmitter secretion (GO:0007269)3.79649430
46positive regulation of membrane potential (GO:0045838)3.75958842
47primary amino compound metabolic process (GO:1901160)3.72496551
48response to histamine (GO:0034776)3.69561137
49dendritic spine organization (GO:0097061)3.68720311
50* gamma-aminobutyric acid signaling pathway (GO:0007214)3.66643569
51postsynaptic membrane organization (GO:0001941)3.66151446
52transmission of nerve impulse (GO:0019226)3.65481324
53cellular potassium ion homeostasis (GO:0030007)3.62211763
54regulation of voltage-gated calcium channel activity (GO:1901385)3.62023012
55positive regulation of dendritic spine development (GO:0060999)3.60214234
56G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.60015458
57negative regulation of synaptic transmission, GABAergic (GO:0032229)3.57253261
58neuronal ion channel clustering (GO:0045161)3.54737128
59* behavioral defense response (GO:0002209)3.50543017
60* behavioral fear response (GO:0001662)3.50543017
61presynaptic membrane assembly (GO:0097105)3.48321783
62positive regulation of neurotransmitter secretion (GO:0001956)3.48302616
63cerebellar granule cell differentiation (GO:0021707)3.47881754
64regulation of dendritic spine development (GO:0060998)3.47630916
65negative regulation of dendrite morphogenesis (GO:0050774)3.46856160
66regulation of neurotransmitter transport (GO:0051588)3.46280320
67regulation of vesicle fusion (GO:0031338)3.43719798
68regulation of female receptivity (GO:0045924)3.43627273
69neurotransmitter uptake (GO:0001504)3.42821336
70long term synaptic depression (GO:0060292)3.42294491
71regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)3.41322635
72membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.39809194
73regulation of synapse maturation (GO:0090128)3.32321635
74homocysteine metabolic process (GO:0050667)3.27737555
75positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.27545221
76* fear response (GO:0042596)3.27209308
77cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.25869013
78gamma-aminobutyric acid transport (GO:0015812)3.25086416
79chemosensory behavior (GO:0007635)3.25002146
80regulation of synaptic transmission, glutamatergic (GO:0051966)3.24864362
81negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.23905733
82regulation of glutamate secretion (GO:0014048)3.23555639
83* learning (GO:0007612)3.23281363
84neuromuscular synaptic transmission (GO:0007274)3.22841333
85female mating behavior (GO:0060180)3.22835211
86neurotransmitter transport (GO:0006836)3.22542804
87vesicle transport along microtubule (GO:0047496)3.21606696
88central nervous system projection neuron axonogenesis (GO:0021952)3.20892565
89acidic amino acid transport (GO:0015800)3.20720665
90startle response (GO:0001964)3.19854296
91axon ensheathment in central nervous system (GO:0032291)3.19729929
92central nervous system myelination (GO:0022010)3.19729929
93synaptic vesicle transport (GO:0048489)3.17820748
94establishment of synaptic vesicle localization (GO:0097480)3.17820748
95positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.17035246
96neuromuscular process controlling posture (GO:0050884)3.16639648
97membrane depolarization (GO:0051899)3.16469307
98regulation of neurotransmitter secretion (GO:0046928)3.15393294
99positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.15348214
100dendrite morphogenesis (GO:0048813)3.15102088
101potassium ion homeostasis (GO:0055075)3.15069474
102presynaptic membrane organization (GO:0097090)3.14856353
103sodium ion export (GO:0071436)3.14147916
104activation of protein kinase A activity (GO:0034199)3.11883165
105cell communication by electrical coupling (GO:0010644)3.10800967
106dicarboxylic acid transport (GO:0006835)3.09051623
107regulation of synaptic transmission (GO:0050804)3.07383291
108regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.05962598
109potassium ion import (GO:0010107)3.04474629
110microtubule nucleation (GO:0007020)3.03850881
111vesicle docking involved in exocytosis (GO:0006904)3.02822479
112neuromuscular process controlling balance (GO:0050885)3.00504486
113regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.00348441
114positive regulation of neurotransmitter transport (GO:0051590)2.98685552
115membrane depolarization during action potential (GO:0086010)2.98480904
116organelle transport along microtubule (GO:0072384)2.96909224
117positive regulation of synaptic transmission (GO:0050806)2.96348180
118synapse assembly (GO:0007416)2.96321169
119intraspecies interaction between organisms (GO:0051703)2.96048040
120social behavior (GO:0035176)2.96048040
121* synaptic transmission (GO:0007268)2.95427795
122cerebellar Purkinje cell differentiation (GO:0021702)2.95058350
123regulation of neurotransmitter levels (GO:0001505)2.92976343
124glycosphingolipid biosynthetic process (GO:0006688)2.91401860
125positive regulation of synaptic transmission, GABAergic (GO:0032230)2.90684678
126vesicle docking (GO:0048278)2.90017350
127auditory behavior (GO:0031223)2.87746182
128establishment of mitochondrion localization (GO:0051654)2.87534918
129negative regulation of amino acid transport (GO:0051956)2.87251126
130behavioral response to cocaine (GO:0048148)2.86801117
131L-glutamate transport (GO:0015813)2.86306193
132* innervation (GO:0060384)2.85894431

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.52713003
2GBX2_23144817_ChIP-Seq_PC3_Human4.04291181
3* JARID2_20064375_ChIP-Seq_MESCs_Mouse3.23747810
4* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.20860904
5* SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.07235147
6REST_21632747_ChIP-Seq_MESCs_Mouse2.79851952
7* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.77745072
8JARID2_20075857_ChIP-Seq_MESCs_Mouse2.68256796
9* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.67679128
10* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.67679128
11* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.61647679
12EZH2_27304074_Chip-Seq_ESCs_Mouse2.55991866
13* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.51782639
14SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.50153532
15RARB_27405468_Chip-Seq_BRAIN_Mouse2.49161861
16* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.49065735
17THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.45046109
18* EED_16625203_ChIP-ChIP_MESCs_Mouse2.30876321
19EZH2_27294783_Chip-Seq_ESCs_Mouse2.22748221
20IKZF1_21737484_ChIP-ChIP_HCT116_Human2.21965560
21REST_18959480_ChIP-ChIP_MESCs_Mouse2.20981536
22DROSHA_22980978_ChIP-Seq_HELA_Human2.19904494
23RNF2_27304074_Chip-Seq_ESCs_Mouse2.19842358
24* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.18734529
25ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.04416906
26* CTBP1_25329375_ChIP-Seq_LNCAP_Human2.00687995
27CTBP2_25329375_ChIP-Seq_LNCAP_Human1.98736712
28NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.96461803
29CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.85433432
30AR_21572438_ChIP-Seq_LNCaP_Human1.84619243
31SMAD4_21799915_ChIP-Seq_A2780_Human1.80760815
32TAF15_26573619_Chip-Seq_HEK293_Human1.79145292
33* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.72071213
34ZFP57_27257070_Chip-Seq_ESCs_Mouse1.71133299
35MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.68067202
36P300_19829295_ChIP-Seq_ESCs_Human1.66295183
37ZNF274_21170338_ChIP-Seq_K562_Hela1.65459391
38PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.57295501
39GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.56251508
40EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.47403192
41FUS_26573619_Chip-Seq_HEK293_Human1.47137840
42NR3C1_23031785_ChIP-Seq_PC12_Mouse1.46094799
43GATA1_26923725_Chip-Seq_HPCs_Mouse1.45997510
44PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.45195972
45GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.44891037
46SMAD3_21741376_ChIP-Seq_EPCs_Human1.43210798
47SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.42997998
48AR_25329375_ChIP-Seq_VCAP_Human1.42598371
49TOP2B_26459242_ChIP-Seq_MCF-7_Human1.41765004
50RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.39825133
51TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.39024153
52CBX2_27304074_Chip-Seq_ESCs_Mouse1.35703045
53IGF1R_20145208_ChIP-Seq_DFB_Human1.34159434
54ERG_21242973_ChIP-ChIP_JURKAT_Human1.33684247
55POU3F2_20337985_ChIP-ChIP_501MEL_Human1.32995846
56ZFP281_18757296_ChIP-ChIP_E14_Mouse1.32710566
57RING1B_27294783_Chip-Seq_ESCs_Mouse1.32367341
58OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.30531828
59SOX2_21211035_ChIP-Seq_LN229_Gbm1.30006498
60BMI1_23680149_ChIP-Seq_NPCS_Mouse1.30002021
61VDR_22108803_ChIP-Seq_LS180_Human1.29899794
62SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.25564411
63FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.22879390
64ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.22733970
65PIAS1_25552417_ChIP-Seq_VCAP_Human1.21767068
66TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.21462878
67TET1_21490601_ChIP-Seq_MESCs_Mouse1.21372806
68* STAT3_23295773_ChIP-Seq_U87_Human1.20772186
69* PRDM14_20953172_ChIP-Seq_ESCs_Human1.17590244
70RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.17261612
71TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.16420550
72AR_19668381_ChIP-Seq_PC3_Human1.15497915
73TP53_16413492_ChIP-PET_HCT116_Human1.14555185
74SMAD_19615063_ChIP-ChIP_OVARY_Human1.14239899
75UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.12755650
76PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.12680656
77RING1B_27294783_Chip-Seq_NPCs_Mouse1.11508846
78ZFP281_27345836_Chip-Seq_ESCs_Mouse1.11115319
79TCF4_23295773_ChIP-Seq_U87_Human1.10711358
80RNF2_27304074_Chip-Seq_NSC_Mouse1.10235042
81ARNT_22903824_ChIP-Seq_MCF-7_Human1.09876637
82TP53_18474530_ChIP-ChIP_U2OS_Human1.08371432
83* JUN_21703547_ChIP-Seq_K562_Human1.07552119
84WT1_25993318_ChIP-Seq_PODOCYTE_Human1.05533533
85YAP1_20516196_ChIP-Seq_MESCs_Mouse1.05134046
86AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.05055433
87CDX2_19796622_ChIP-Seq_MESCs_Mouse1.04980083
88KDM2B_26808549_Chip-Seq_REH_Human1.04598319
89ZNF217_24962896_ChIP-Seq_MCF-7_Human1.04237577
90SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.03524222
91* RUNX2_22187159_ChIP-Seq_PCA_Human1.03156965
92NR3C1_21868756_ChIP-Seq_MCF10A_Human1.02986470
93ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.02697453
94P53_22127205_ChIP-Seq_FIBROBLAST_Human1.01454098
95WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.00699100
96TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.99972005
97* MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.99576225
98SOX9_26525672_Chip-Seq_HEART_Mouse0.99142235
99LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.98797586
100CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.98785254
101TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.98682143
102POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.98682143
103MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.97714907
104BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.97637231
105BCAT_22108803_ChIP-Seq_LS180_Human0.97360262
106TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.96248709
107SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.95072501
108SMAD3_21741376_ChIP-Seq_HESCs_Human0.95062178
109TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.94791454
110CTCF_27219007_Chip-Seq_Bcells_Human0.94163991
111AHR_22903824_ChIP-Seq_MCF-7_Human0.94071952
112DNAJC2_21179169_ChIP-ChIP_NT2_Human0.93605738
113NANOG_18555785_Chip-Seq_ESCs_Mouse0.93348464
114CTNNB1_20460455_ChIP-Seq_HCT116_Human0.92527399
115SMAD3_21741376_ChIP-Seq_ESCs_Human0.91925773
116SMAD4_21741376_ChIP-Seq_HESCs_Human0.91569998
117NACC1_18358816_ChIP-ChIP_MESCs_Mouse0.91320939
118OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.89809827
119ER_23166858_ChIP-Seq_MCF-7_Human0.88093483
120TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.87671746
121RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.86698079
122EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.86634941
123POU5F1_18347094_ChIP-ChIP_MESCs_Mouse0.85681905
124CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.85651613
125CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.83981438
126LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse0.83650573
127SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.83458738

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity7.25710689
2MP0003880_abnormal_central_pattern5.83869294
3* MP0003635_abnormal_synaptic_transmissio4.33216976
4MP0004270_analgesia3.89969923
5* MP0002063_abnormal_learning/memory/cond3.63241908
6* MP0009745_abnormal_behavioral_response3.46214572
7MP0002064_seizures3.11505328
8MP0001968_abnormal_touch/_nociception3.08085038
9MP0002572_abnormal_emotion/affect_behav2.95068827
10MP0002736_abnormal_nociception_after2.68067584
11MP0001501_abnormal_sleep_pattern2.59883954
12MP0002735_abnormal_chemical_nociception2.57838488
13MP0002272_abnormal_nervous_system2.55631307
14MP0001440_abnormal_grooming_behavior2.53079817
15MP0009046_muscle_twitch2.48538192
16MP0002734_abnormal_mechanical_nocicepti2.43388150
17MP0001486_abnormal_startle_reflex2.39959606
18MP0005423_abnormal_somatic_nervous2.36880447
19MP0003329_amyloid_beta_deposits2.25475252
20MP0000778_abnormal_nervous_system2.12159169
21MP0006276_abnormal_autonomic_nervous1.98498294
22MP0002733_abnormal_thermal_nociception1.94517815
23MP0009780_abnormal_chondrocyte_physiolo1.93664779
24MP0002067_abnormal_sensory_capabilities1.92315434
25MP0001970_abnormal_pain_threshold1.85187086
26* MP0002184_abnormal_innervation1.76103830
27MP0004811_abnormal_neuron_physiology1.70083523
28MP0002557_abnormal_social/conspecific_i1.68271545
29MP0005386_behavior/neurological_phenoty1.66992685
30MP0004924_abnormal_behavior1.66992685
31MP0002909_abnormal_adrenal_gland1.59789603
32MP0002822_catalepsy1.58348558
33MP0004858_abnormal_nervous_system1.54877887
34MP0000955_abnormal_spinal_cord1.53275814
35MP0001529_abnormal_vocalization1.52062312
36MP0008569_lethality_at_weaning1.50728599
37MP0004147_increased_porphyrin_level1.49158216
38MP0003879_abnormal_hair_cell1.44687499
39MP0003787_abnormal_imprinting1.44003203
40MP0002837_dystrophic_cardiac_calcinosis1.42780623
41MP0003183_abnormal_peptide_metabolism1.38707277
42* MP0002882_abnormal_neuron_morphology1.38267874
43* MP0002066_abnormal_motor_capabilities/c1.37284784
44MP0001905_abnormal_dopamine_level1.34303632
45MP0004885_abnormal_endolymph1.34240580
46MP0001984_abnormal_olfaction1.29704757
47MP0005670_abnormal_white_adipose1.23107698
48MP0001188_hyperpigmentation1.22275528
49MP0008877_abnormal_DNA_methylation1.20379305
50MP0003633_abnormal_nervous_system1.19473819
51MP0005646_abnormal_pituitary_gland1.19221766
52MP0005645_abnormal_hypothalamus_physiol1.17457550
53MP0001502_abnormal_circadian_rhythm1.16906102
54* MP0002152_abnormal_brain_morphology1.10429357
55MP0000604_amyloidosis1.09730972
56MP0004142_abnormal_muscle_tone1.09600499
57MP0003631_nervous_system_phenotype1.06814165
58MP0010386_abnormal_urinary_bladder1.06690442
59MP0004510_myositis1.01518034
60MP0004484_altered_response_of0.96513898
61MP0003121_genomic_imprinting0.96402092
62MP0004145_abnormal_muscle_electrophysio0.95471112
63MP0000751_myopathy0.95129759
64MP0003705_abnormal_hypodermis_morpholog0.92586578
65MP0003122_maternal_imprinting0.91201762
66MP0005551_abnormal_eye_electrophysiolog0.89645090
67MP0002876_abnormal_thyroid_physiology0.88896592
68* MP0002069_abnormal_eating/drinking_beha0.88764947
69MP0005535_abnormal_body_temperature0.87727221
70* MP0002229_neurodegeneration0.82501929
71MP0005409_darkened_coat_color0.82233426
72MP0008874_decreased_physiological_sensi0.81759698
73MP0004085_abnormal_heartbeat0.81374708
74MP0003075_altered_response_to0.80483549
75MP0004133_heterotaxia0.80006399
76MP0006292_abnormal_olfactory_placode0.77139772
77MP0004215_abnormal_myocardial_fiber0.76914095
78MP0003632_abnormal_nervous_system0.76849252
79MP0003634_abnormal_glial_cell0.76525082
80MP0002638_abnormal_pupillary_reflex0.76053688
81MP0004742_abnormal_vestibular_system0.75383604
82* MP0001963_abnormal_hearing_physiology0.74785039
83MP0005394_taste/olfaction_phenotype0.74784757
84MP0005499_abnormal_olfactory_system0.74784757
85MP0008872_abnormal_physiological_respon0.74684901
86MP0008995_early_reproductive_senescence0.73324413
87* MP0002752_abnormal_somatic_nervous0.71877420
88MP0000631_abnormal_neuroendocrine_gland0.70591576
89MP0001664_abnormal_digestion0.70312224
90MP0001177_atelectasis0.70305804
91MP0002234_abnormal_pharynx_morphology0.68540075
92MP0000579_abnormal_nail_morphology0.67096210
93* MP0000026_abnormal_inner_ear0.65135887
94MP0005187_abnormal_penis_morphology0.64572471
95MP0003861_abnormal_nervous_system0.61245362
96MP0003123_paternal_imprinting0.60883454
97MP0003890_abnormal_embryonic-extraembry0.60577818
98MP0009672_abnormal_birth_weight0.60373890
99MP0002090_abnormal_vision0.60145346
100MP0005623_abnormal_meninges_morphology0.59866902
101MP0010234_abnormal_vibrissa_follicle0.59652681
102MP0002653_abnormal_ependyma_morphology0.59549761
103MP0003137_abnormal_impulse_conducting0.59541181
104MP0008961_abnormal_basal_metabolism0.59521581
105MP0000569_abnormal_digit_pigmentation0.58716478
106MP0004130_abnormal_muscle_cell0.58649376
107MP0000920_abnormal_myelination0.58593186
108MP0000013_abnormal_adipose_tissue0.58538905
109MP0001986_abnormal_taste_sensitivity0.57484542
110MP0000534_abnormal_ureter_morphology0.56138701
111MP0009379_abnormal_foot_pigmentation0.55555506
112MP0004043_abnormal_pH_regulation0.55464311
113MP0004233_abnormal_muscle_weight0.54839003
114MP0001485_abnormal_pinna_reflex0.54783690
115MP0003941_abnormal_skin_development0.53925830
116MP0010769_abnormal_survival0.52537181
117MP0001765_abnormal_ion_homeostasis0.52405197
118MP0003690_abnormal_glial_cell0.51900086
119MP0005595_abnormal_vascular_smooth0.51556931
120MP0010768_mortality/aging0.51263207
121MP0010770_preweaning_lethality0.51008988
122MP0002082_postnatal_lethality0.51008988
123MP0003938_abnormal_ear_development0.50880398
124MP0001346_abnormal_lacrimal_gland0.50561495
125MP0003956_abnormal_body_size0.48835521

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)8.24060620
2Myokymia (HP:0002411)6.44069042
3Focal seizures (HP:0007359)5.89247877
4Visual hallucinations (HP:0002367)5.71753334
5Epileptic encephalopathy (HP:0200134)5.15682364
6Atonic seizures (HP:0010819)4.86564643
7Absence seizures (HP:0002121)4.68966009
8Febrile seizures (HP:0002373)4.46608244
9Abnormality of pyruvate family amino acid metabolism (HP:0010915)4.46206821
10Abnormality of alanine metabolism (HP:0010916)4.46206821
11Hyperalaninemia (HP:0003348)4.46206821
12Hyperventilation (HP:0002883)4.36602386
13Dialeptic seizures (HP:0011146)4.34711656
14Progressive cerebellar ataxia (HP:0002073)4.27765982
15Cerebral inclusion bodies (HP:0100314)4.24157433
16Supranuclear gaze palsy (HP:0000605)4.19366369
17Generalized tonic-clonic seizures (HP:0002069)4.03952053
18Neurofibrillary tangles (HP:0002185)3.70873039
19Broad-based gait (HP:0002136)3.69229659
20Cerebral hypomyelination (HP:0006808)3.65482206
21Amblyopia (HP:0000646)3.59637706
22Drooling (HP:0002307)3.43742292
23Excessive salivation (HP:0003781)3.43742292
24Mutism (HP:0002300)3.29671922
25Abnormality of binocular vision (HP:0011514)3.24824535
26Diplopia (HP:0000651)3.24824535
27Action tremor (HP:0002345)3.20841785
28Abnormality of the lower motor neuron (HP:0002366)3.19233578
29Impaired vibration sensation in the lower limbs (HP:0002166)3.18881540
30Limb dystonia (HP:0002451)3.15829198
31Dysmetria (HP:0001310)3.12868968
32Poor eye contact (HP:0000817)3.05901367
33Anxiety (HP:0000739)3.04202139
34Epileptiform EEG discharges (HP:0011182)2.96891218
35Depression (HP:0000716)2.96797515
36Clonus (HP:0002169)2.96246618
37Truncal ataxia (HP:0002078)2.95792236
38Hemiparesis (HP:0001269)2.95235134
39Dysdiadochokinesis (HP:0002075)2.86532017
40Amyotrophic lateral sclerosis (HP:0007354)2.85125210
41Urinary bladder sphincter dysfunction (HP:0002839)2.84523005
42Gaze-evoked nystagmus (HP:0000640)2.82655792
43Delusions (HP:0000746)2.79372230
44Absent speech (HP:0001344)2.76465641
45Abnormal eating behavior (HP:0100738)2.74899111
46Impaired social interactions (HP:0000735)2.73064267
47Abnormal social behavior (HP:0012433)2.73064267
48Heterochromia iridis (HP:0001100)2.70865949
49Abnormality of the labia minora (HP:0012880)2.67461556
50EEG with generalized epileptiform discharges (HP:0011198)2.63164147
51Insidious onset (HP:0003587)2.63132930
52Termporal pattern (HP:0011008)2.63132930
53Progressive inability to walk (HP:0002505)2.62921199
54Birth length less than 3rd percentile (HP:0003561)2.60402126
55Genetic anticipation (HP:0003743)2.60264316
56Impaired smooth pursuit (HP:0007772)2.58413804
57Postural instability (HP:0002172)2.57095223
58Ankle clonus (HP:0011448)2.47894963
59Papilledema (HP:0001085)2.46548147
60Sleep apnea (HP:0010535)2.46528365
61Abnormality of the corticospinal tract (HP:0002492)2.46150479
62Urinary urgency (HP:0000012)2.44759280
63Bradykinesia (HP:0002067)2.43924841
64Constricted visual fields (HP:0001133)2.42970959
65Hypsarrhythmia (HP:0002521)2.41197794
66Abnormality of salivation (HP:0100755)2.37590230
67Stereotypic behavior (HP:0000733)2.37262813
68Inability to walk (HP:0002540)2.36893297
69Generalized myoclonic seizures (HP:0002123)2.35612116
70Hydroureter (HP:0000072)2.35250059
71White forelock (HP:0002211)2.33435550
72Fetal akinesia sequence (HP:0001989)2.29469459
73Spastic gait (HP:0002064)2.25108234
74Polyphagia (HP:0002591)2.24010909
75Inappropriate behavior (HP:0000719)2.21157837
76Scanning speech (HP:0002168)2.20532337
77Protruding tongue (HP:0010808)2.20175657
78Apathy (HP:0000741)2.19310377
79Dyskinesia (HP:0100660)2.19074143
80Megalencephaly (HP:0001355)2.18772820
81Congenital sensorineural hearing impairment (HP:0008527)2.14925854
82Abnormality of ocular smooth pursuit (HP:0000617)2.14572367
83Rapidly progressive (HP:0003678)2.11020692
84Impaired vibratory sensation (HP:0002495)2.09397960
85Focal dystonia (HP:0004373)2.08056347
86Annular pancreas (HP:0001734)2.06832663
87Status epilepticus (HP:0002133)2.06529483
88Torticollis (HP:0000473)2.06097211
89Patchy hypopigmentation of hair (HP:0011365)2.04628154
90Poor speech (HP:0002465)2.04567477
91Tetraplegia (HP:0002445)2.03944293
92Lower limb muscle weakness (HP:0007340)2.01971822
93Poor suck (HP:0002033)2.01678350
94Psychosis (HP:0000709)2.01262633
95Decreased number of large peripheral myelinated nerve fibers (HP:0003387)2.00218381
96Thickened helices (HP:0000391)1.99909870
97Morphological abnormality of the inner ear (HP:0011390)1.98180192
98Abnormality of serum amino acid levels (HP:0003112)1.97213604
99CNS hypomyelination (HP:0003429)1.96940284
100Split foot (HP:0001839)1.96793409
101Intention tremor (HP:0002080)1.96549559
102Retinal dysplasia (HP:0007973)1.95819615
103Homocystinuria (HP:0002156)1.95815549
104Abnormality of homocysteine metabolism (HP:0010919)1.95815549
105Blue irides (HP:0000635)1.94987990
106Abnormality of cochlea (HP:0000375)1.94314752
107Incomplete penetrance (HP:0003829)1.92648694
108Akinesia (HP:0002304)1.90622287
109Abnormal umbilical cord blood vessels (HP:0011403)1.90561221
110Single umbilical artery (HP:0001195)1.90561221
111Abnormality of the fetal cardiovascular system (HP:0010948)1.90561221
112Diminished motivation (HP:0000745)1.90283937
113Obstructive sleep apnea (HP:0002870)1.89345813
114Urinary incontinence (HP:0000020)1.87888404
115Oligomenorrhea (HP:0000876)1.84749908
116Agnosia (HP:0010524)1.84708767
117Insomnia (HP:0100785)1.84180290
118Neuronal loss in central nervous system (HP:0002529)1.83672086
119Type II lissencephaly (HP:0007260)1.83177863
120Lower limb amyotrophy (HP:0007210)1.82300767
121Gait ataxia (HP:0002066)1.81788838
122Aqueductal stenosis (HP:0002410)1.81612769
123Hemiplegia (HP:0002301)1.80773831
124Esophageal varix (HP:0002040)1.77845557
125Widely spaced teeth (HP:0000687)1.77709980
126Morphological abnormality of the pyramidal tract (HP:0002062)1.76996180
127Agitation (HP:0000713)1.76695082
128Degeneration of the lateral corticospinal tracts (HP:0002314)1.76633868
129Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.76633868
130Lower limb asymmetry (HP:0100559)1.75587535
131Ventricular fibrillation (HP:0001663)1.75244341
132Gait imbalance (HP:0002141)1.73304727
133Anosmia (HP:0000458)1.72789092
134Craniofacial dystonia (HP:0012179)1.72417855
135Testicular atrophy (HP:0000029)1.72363927

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA45.15213663
2NTRK34.74210066
3MAP3K93.62997499
4MARK13.47219795
5RIPK43.28038849
6MAP3K42.95448977
7MINK12.85298987
8MAP2K72.53354004
9MAP3K122.36972119
10KSR22.10566964
11DAPK22.02407832
12PLK22.01568044
13CASK1.94089061
14KSR11.93912352
15MAP2K41.91592523
16PNCK1.89227140
17DAPK11.84458344
18PAK61.83127012
19NTRK21.74714149
20ARAF1.64021296
21PTK2B1.56874890
22GRK51.56359228
23PRKD31.54378518
24SIK21.51520322
25BMPR21.51163869
26CDK51.48555521
27NTRK11.47476418
28CCNB11.44433391
29NME11.42614958
30TNIK1.41694506
31MAP3K131.38533400
32PRKCG1.35473071
33FES1.30759531
34MAPK131.30745405
35PRPF4B1.28821677
36CAMK2A1.25848558
37CAMKK11.21978509
38CAMK2B1.21712872
39FGR1.18360164
40NEK61.13742508
41CDK191.12684072
42RAF11.08853716
43ALK1.06186094
44LATS21.06044306
45STK381.04899264
46BRSK10.99448870
47MAP3K20.97116195
48TSSK60.92998479
49DYRK20.90455521
50DYRK1A0.89529976
51CDK180.86439910
52SGK30.86184928
53PHKG10.86030024
54PHKG20.86030024
55CDK140.84960311
56CDK150.83460425
57CAMK10.76622504
58PAK30.75958575
59UHMK10.75695368
60TYRO30.73763607
61PLK30.73303371
62CDK11A0.72410229
63FER0.68625907
64CDK90.67921937
65STK110.66858531
66GRK60.65604067
67MAPKAPK50.64524712
68SGK10.64495448
69DAPK30.64029042
70ACVR1B0.63621640
71MAP3K60.63163877
72OXSR10.60749342
73CSNK1G20.60639641
74RET0.59437703
75LIMK10.59396249
76MARK20.58832822
77WNK30.57357845
78PRKCE0.57223508
79CAMK2D0.56232147
80PRKCZ0.55704965
81PDK10.53286555
82CSNK1A10.52084815
83MAP3K70.49400725
84SGK2230.48788463
85SGK4940.48788463
86MAP3K110.48200439
87CSNK1G30.47962887
88MAP3K30.46750199
89PDPK10.46738547
90FYN0.46360335
91DMPK0.44835161
92GRK70.44467719
93MAPK120.44083614
94CSNK1G10.43555904
95MAP3K10.43141057
96PINK10.42771272
97MAP2K10.41837242
98CAMK40.41454858
99MKNK20.41072663
100ROCK20.40888789
101CAMK2G0.40583383
102BRAF0.40511468
103MAPK100.38606729
104PRKCH0.37589026
105RPS6KA30.37499065
106BCR0.37272388
107CSNK1A1L0.37129570
108CAMKK20.35367183
109TNK20.34642381
110ADRBK10.34033695
111BUB10.33530335
112SGK20.33376549
113TRIM280.32142064
114MOS0.31854688
115CSNK1E0.31784372
116RPS6KB10.30471139
117MAP2K30.29580484
118LMTK20.29440207
119SYK0.29322072
120PRKCA0.28741294
121PRKCQ0.28719504
122CDC70.28312594
123PKN10.27844296
124PRKCB0.27568035
125MUSK0.27265683
126TAOK10.27158038
127PRKACA0.26956248
128SIK30.26371366
129AKT30.26142135

Predicted pathways (KEGG)

RankGene SetZ-score
1* Nicotine addiction_Homo sapiens_hsa050334.07625276
2Long-term potentiation_Homo sapiens_hsa047203.22953578
3Circadian entrainment_Homo sapiens_hsa047132.87528316
4Synaptic vesicle cycle_Homo sapiens_hsa047212.86026909
5* Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.83172025
6Glutamatergic synapse_Homo sapiens_hsa047242.76075772
7Amphetamine addiction_Homo sapiens_hsa050312.72876620
8Olfactory transduction_Homo sapiens_hsa047402.51347926
9* GABAergic synapse_Homo sapiens_hsa047272.48660167
10Salivary secretion_Homo sapiens_hsa049702.38517515
11* Morphine addiction_Homo sapiens_hsa050322.36437960
12Dopaminergic synapse_Homo sapiens_hsa047282.28316798
13Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.26948029
14Vitamin B6 metabolism_Homo sapiens_hsa007502.09021286
15Gastric acid secretion_Homo sapiens_hsa049711.93063523
16Renin secretion_Homo sapiens_hsa049241.91604692
17Insulin secretion_Homo sapiens_hsa049111.89328562
18Long-term depression_Homo sapiens_hsa047301.89290483
19Aldosterone synthesis and secretion_Homo sapiens_hsa049251.86003695
20Serotonergic synapse_Homo sapiens_hsa047261.82045957
21Cholinergic synapse_Homo sapiens_hsa047251.81879894
22Calcium signaling pathway_Homo sapiens_hsa040201.79597891
23Oxytocin signaling pathway_Homo sapiens_hsa049211.77151886
24* Taste transduction_Homo sapiens_hsa047421.71520273
25Collecting duct acid secretion_Homo sapiens_hsa049661.65333196
26Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.64503653
272-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.64248412
28Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.59391108
29Arginine biosynthesis_Homo sapiens_hsa002201.56276665
30GnRH signaling pathway_Homo sapiens_hsa049121.55246211
31Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.40237667
32Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.38198389
33Cocaine addiction_Homo sapiens_hsa050301.38176696
34Gap junction_Homo sapiens_hsa045401.36355036
35cAMP signaling pathway_Homo sapiens_hsa040241.33140061
36Axon guidance_Homo sapiens_hsa043601.32595040
37Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.31120383
38Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.23081055
39Glioma_Homo sapiens_hsa052141.20417096
40Estrogen signaling pathway_Homo sapiens_hsa049151.16762226
41Phosphatidylinositol signaling system_Homo sapiens_hsa040701.16070892
42Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.11784013
43Cardiac muscle contraction_Homo sapiens_hsa042601.11535843
44Melanogenesis_Homo sapiens_hsa049161.11314444
45cGMP-PKG signaling pathway_Homo sapiens_hsa040221.11050092
46* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.10961109
47Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050141.10777091
48Vibrio cholerae infection_Homo sapiens_hsa051101.02499317
49Vascular smooth muscle contraction_Homo sapiens_hsa042700.97039830
50Oocyte meiosis_Homo sapiens_hsa041140.97037123
51ErbB signaling pathway_Homo sapiens_hsa040120.95961749
52Alzheimers disease_Homo sapiens_hsa050100.94571481
53Type II diabetes mellitus_Homo sapiens_hsa049300.93724099
54Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.93076217
55Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.91932085
56Phototransduction_Homo sapiens_hsa047440.89979412
57Pancreatic secretion_Homo sapiens_hsa049720.89230007
58Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.87867225
59VEGF signaling pathway_Homo sapiens_hsa043700.85950358
60Choline metabolism in cancer_Homo sapiens_hsa052310.85352368
61Arginine and proline metabolism_Homo sapiens_hsa003300.82226939
62Phospholipase D signaling pathway_Homo sapiens_hsa040720.76194869
63Cysteine and methionine metabolism_Homo sapiens_hsa002700.75011367
64Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.73977266
65Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.73851625
66Thyroid hormone synthesis_Homo sapiens_hsa049180.73070375
67One carbon pool by folate_Homo sapiens_hsa006700.72524271
68Dorso-ventral axis formation_Homo sapiens_hsa043200.72412184
69Oxidative phosphorylation_Homo sapiens_hsa001900.70799528
70Biosynthesis of amino acids_Homo sapiens_hsa012300.70740617
71Glucagon signaling pathway_Homo sapiens_hsa049220.68355790
72African trypanosomiasis_Homo sapiens_hsa051430.67300078
73MAPK signaling pathway_Homo sapiens_hsa040100.65401750
74Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.64327627
75Ras signaling pathway_Homo sapiens_hsa040140.61710759
76Dilated cardiomyopathy_Homo sapiens_hsa054140.60656418
77Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.58931673
78Rap1 signaling pathway_Homo sapiens_hsa040150.55921839
79Carbohydrate digestion and absorption_Homo sapiens_hsa049730.54538870
80Sulfur relay system_Homo sapiens_hsa041220.52412280
81Sphingolipid signaling pathway_Homo sapiens_hsa040710.52046263
82Neurotrophin signaling pathway_Homo sapiens_hsa047220.50470045
83Fatty acid biosynthesis_Homo sapiens_hsa000610.50195583
84Prion diseases_Homo sapiens_hsa050200.48125410
85Wnt signaling pathway_Homo sapiens_hsa043100.44242870
86Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.42612544
87Hippo signaling pathway_Homo sapiens_hsa043900.42056083
88Regulation of autophagy_Homo sapiens_hsa041400.41774917
89Inositol phosphate metabolism_Homo sapiens_hsa005620.40623447
90Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.40336335
91Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.40165908
92Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.39829671
93Thyroid hormone signaling pathway_Homo sapiens_hsa049190.39658997
94Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.39079998
95Bile secretion_Homo sapiens_hsa049760.38712919
96mTOR signaling pathway_Homo sapiens_hsa041500.37742007
97Parkinsons disease_Homo sapiens_hsa050120.37675770
98Alcoholism_Homo sapiens_hsa050340.37615322
99Huntingtons disease_Homo sapiens_hsa050160.37021267
100Non-small cell lung cancer_Homo sapiens_hsa052230.35710575
101Renal cell carcinoma_Homo sapiens_hsa052110.35446599
102SNARE interactions in vesicular transport_Homo sapiens_hsa041300.34115782
103Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.32093521
104mRNA surveillance pathway_Homo sapiens_hsa030150.31915076
105Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.31312836
106Endocytosis_Homo sapiens_hsa041440.30667159
107Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.30583490
108Type I diabetes mellitus_Homo sapiens_hsa049400.30424784
109Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.28703776
110Folate biosynthesis_Homo sapiens_hsa007900.27796500
111Insulin signaling pathway_Homo sapiens_hsa049100.26952724
112Regulation of actin cytoskeleton_Homo sapiens_hsa048100.26400671
113Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.26261691
114Longevity regulating pathway - mammal_Homo sapiens_hsa042110.24874138
115Mineral absorption_Homo sapiens_hsa049780.24850636
116Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.24823190
117Tight junction_Homo sapiens_hsa045300.24507418
118Endometrial cancer_Homo sapiens_hsa052130.24401818
119Circadian rhythm_Homo sapiens_hsa047100.24221974
120Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.24146985
121Ovarian steroidogenesis_Homo sapiens_hsa049130.23891371
122Colorectal cancer_Homo sapiens_hsa052100.23579450
123Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.23447194
124Pyruvate metabolism_Homo sapiens_hsa006200.23385917
125Galactose metabolism_Homo sapiens_hsa000520.22768887
126beta-Alanine metabolism_Homo sapiens_hsa004100.22161962
127Carbon metabolism_Homo sapiens_hsa012000.18614627

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