ATP6V1G2

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: This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of three V1 domain G subunit proteins. This gene had previous gene symbols of ATP6G and ATP6G2. Alternatively spliced transcript variants encoding different isoforms have been described. Read-through transcription also exists between this gene and the downstream DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B) gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle exocytosis (GO:0016079)6.21911709
2regulation of short-term neuronal synaptic plasticity (GO:0048172)6.08019080
3glutamate secretion (GO:0014047)5.79057518
4synaptic vesicle docking involved in exocytosis (GO:0016081)5.73816867
5vocalization behavior (GO:0071625)5.71949692
6positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.59964066
7regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.51554213
8synaptic vesicle maturation (GO:0016188)5.49454090
9regulation of synaptic vesicle exocytosis (GO:2000300)5.38848258
10locomotory exploration behavior (GO:0035641)5.19032157
11regulation of glutamate receptor signaling pathway (GO:1900449)5.18695282
12regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)5.01514392
13neuronal action potential propagation (GO:0019227)5.00011802
14protein localization to synapse (GO:0035418)4.93413509
15positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.89646048
16ionotropic glutamate receptor signaling pathway (GO:0035235)4.82183905
17neurotransmitter secretion (GO:0007269)4.80702263
18regulation of synaptic vesicle transport (GO:1902803)4.80283594
19neuron cell-cell adhesion (GO:0007158)4.76499965
20sodium ion export (GO:0071436)4.70431076
21neuronal ion channel clustering (GO:0045161)4.69264996
22neurotransmitter-gated ion channel clustering (GO:0072578)4.65721661
23neuron-neuron synaptic transmission (GO:0007270)4.47441651
24synaptic transmission, glutamatergic (GO:0035249)4.46704910
25glutamate receptor signaling pathway (GO:0007215)4.36975019
26negative regulation of synaptic transmission, GABAergic (GO:0032229)4.31957417
27regulation of neuronal synaptic plasticity (GO:0048168)4.22506921
28regulation of long-term neuronal synaptic plasticity (GO:0048169)4.21960957
29exploration behavior (GO:0035640)4.21810699
30axon ensheathment in central nervous system (GO:0032291)4.13303944
31central nervous system myelination (GO:0022010)4.13303944
32gamma-aminobutyric acid signaling pathway (GO:0007214)4.12336484
33membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.09628009
34long-term synaptic potentiation (GO:0060291)4.09380673
35regulation of excitatory postsynaptic membrane potential (GO:0060079)3.99189529
36potassium ion homeostasis (GO:0055075)3.93619531
37gamma-aminobutyric acid transport (GO:0015812)3.87728287
38presynaptic membrane assembly (GO:0097105)3.87232312
39positive regulation of synapse maturation (GO:0090129)3.86030215
40positive regulation of membrane potential (GO:0045838)3.85304754
41neurotransmitter transport (GO:0006836)3.85024465
42L-amino acid import (GO:0043092)3.82024048
43establishment of mitochondrion localization (GO:0051654)3.80394915
44regulation of postsynaptic membrane potential (GO:0060078)3.80064730
45regulation of synaptic plasticity (GO:0048167)3.78801350
46long-term memory (GO:0007616)3.77887721
47regulation of synapse structural plasticity (GO:0051823)3.75474357
48cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.73718423
49presynaptic membrane organization (GO:0097090)3.69139906
50postsynaptic membrane organization (GO:0001941)3.68628807
51synaptic vesicle endocytosis (GO:0048488)3.65921098
52positive regulation of dendritic spine morphogenesis (GO:0061003)3.65694993
53positive regulation of dendritic spine development (GO:0060999)3.65095055
54regulation of neurotransmitter secretion (GO:0046928)3.63807232
55response to histamine (GO:0034776)3.62547505
56proline transport (GO:0015824)3.62337442
57axonal fasciculation (GO:0007413)3.62310717
58positive regulation of neurotransmitter transport (GO:0051590)3.61182488
59regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.59076538
60regulation of synaptic transmission, glutamatergic (GO:0051966)3.58758042
61regulation of neurotransmitter levels (GO:0001505)3.57706113
62amino acid import (GO:0043090)3.57033329
63regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.56982375
64cerebellar Purkinje cell differentiation (GO:0021702)3.53093460
65neuromuscular process controlling posture (GO:0050884)3.48513901
66positive regulation of neurotransmitter secretion (GO:0001956)3.48239387
67cellular potassium ion homeostasis (GO:0030007)3.45481402
68potassium ion import (GO:0010107)3.43793482
69cell migration in hindbrain (GO:0021535)3.41773578
70cerebellar granule cell differentiation (GO:0021707)3.40242971
71regulation of neurotransmitter transport (GO:0051588)3.39175216
72G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.36978163
73energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)3.35548374
74ATP hydrolysis coupled proton transport (GO:0015991)3.35548374
75positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.35231588
76neuron recognition (GO:0008038)3.35195554
77cellular sodium ion homeostasis (GO:0006883)3.35042637
78activation of protein kinase A activity (GO:0034199)3.34714251
79positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.33874547
80adult walking behavior (GO:0007628)3.33707256
81neuromuscular process controlling balance (GO:0050885)3.33084586
82regulation of vesicle fusion (GO:0031338)3.31524586
83positive regulation of synaptic transmission (GO:0050806)3.30959689
84cell communication by electrical coupling (GO:0010644)3.30061586
85neuromuscular synaptic transmission (GO:0007274)3.29738697
86startle response (GO:0001964)3.29576412
87positive regulation of synaptic transmission, GABAergic (GO:0032230)3.28149488
88acidic amino acid transport (GO:0015800)3.26663091
89negative regulation of dendrite morphogenesis (GO:0050774)3.25398424
90negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.25193749
91membrane depolarization (GO:0051899)3.24271106
92transmission of nerve impulse (GO:0019226)3.23378856
93behavioral defense response (GO:0002209)3.23087565
94behavioral fear response (GO:0001662)3.23087565
95behavioral response to cocaine (GO:0048148)3.22865494
96synaptic transmission (GO:0007268)3.22374405
97regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.21717312
98regulation of synaptic transmission (GO:0050804)3.20068353
99cell differentiation in hindbrain (GO:0021533)3.19908056
100regulation of glutamate secretion (GO:0014048)3.19014558
101layer formation in cerebral cortex (GO:0021819)3.18004131
102dendritic spine organization (GO:0097061)3.16853678
103regulation of dendritic spine morphogenesis (GO:0061001)3.15296865
104long term synaptic depression (GO:0060292)3.14293543
105learning (GO:0007612)3.13847247
106pyrimidine nucleobase catabolic process (GO:0006208)3.13248029
107neurofilament cytoskeleton organization (GO:0060052)3.12619639
108regulation of dendritic spine development (GO:0060998)3.12173055
109regulation of synapse maturation (GO:0090128)3.10124247
110membrane depolarization during action potential (GO:0086010)3.09189078
111membrane hyperpolarization (GO:0060081)3.08788190
112response to auditory stimulus (GO:0010996)3.08434261
113regulation of female receptivity (GO:0045924)3.08179202
114regulation of voltage-gated calcium channel activity (GO:1901385)3.07927294
115synapse assembly (GO:0007416)3.06887372
116regulation of synaptic transmission, GABAergic (GO:0032228)3.06335828
117dendritic spine morphogenesis (GO:0060997)3.06132480
118fear response (GO:0042596)3.05109162
119synaptic vesicle transport (GO:0048489)3.03422935
120establishment of synaptic vesicle localization (GO:0097480)3.03422935
121G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.03374027
122positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.01469687
123female mating behavior (GO:0060180)3.00319108
124* transferrin transport (GO:0033572)2.97561148
125mechanosensory behavior (GO:0007638)2.95673197
126detection of calcium ion (GO:0005513)2.94890757
127auditory behavior (GO:0031223)2.94603411
128negative regulation of dendrite development (GO:2000171)2.92208076

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.01679998
2GBX2_23144817_ChIP-Seq_PC3_Human4.30524475
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.27634904
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.16137662
5JARID2_20064375_ChIP-Seq_MESCs_Mouse3.09063351
6REST_21632747_ChIP-Seq_MESCs_Mouse2.87904919
7SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.71145624
8RNF2_18974828_ChIP-Seq_MESCs_Mouse2.67783478
9EZH2_18974828_ChIP-Seq_MESCs_Mouse2.67783478
10RARB_27405468_Chip-Seq_BRAIN_Mouse2.64743132
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.64488396
12SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.55723800
13SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.51679838
14SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.51410107
15MTF2_20144788_ChIP-Seq_MESCs_Mouse2.49521676
16EZH2_27304074_Chip-Seq_ESCs_Mouse2.47522382
17REST_18959480_ChIP-ChIP_MESCs_Mouse2.40895871
18TAF15_26573619_Chip-Seq_HEK293_Human2.33899737
19EED_16625203_ChIP-ChIP_MESCs_Mouse2.30648105
20DROSHA_22980978_ChIP-Seq_HELA_Human2.28563066
21NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.23052124
22SUZ12_27294783_Chip-Seq_ESCs_Mouse2.20611283
23IKZF1_21737484_ChIP-ChIP_HCT116_Human2.18674996
24GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.15988004
25EZH2_27294783_Chip-Seq_ESCs_Mouse2.12142103
26RNF2_27304074_Chip-Seq_ESCs_Mouse2.10574093
27CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.10032670
28CTBP2_25329375_ChIP-Seq_LNCAP_Human2.09464537
29MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.00110128
30CTBP1_25329375_ChIP-Seq_LNCAP_Human1.93113589
31ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.90691388
32THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.86823242
33TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.86449176
34SMAD4_21799915_ChIP-Seq_A2780_Human1.83362041
35AR_21572438_ChIP-Seq_LNCaP_Human1.78515088
36ZFP57_27257070_Chip-Seq_ESCs_Mouse1.77195704
37SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.74707269
38P300_19829295_ChIP-Seq_ESCs_Human1.62984573
39GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.54757612
40ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.47929623
41ERG_21242973_ChIP-ChIP_JURKAT_Human1.47448861
42PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.43276556
43BMI1_23680149_ChIP-Seq_NPCS_Mouse1.41881852
44EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.41095818
45SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.40247424
46ZFP281_18757296_ChIP-ChIP_E14_Mouse1.40000820
47AR_25329375_ChIP-Seq_VCAP_Human1.38639943
48TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.38596651
49SMAD3_21741376_ChIP-Seq_EPCs_Human1.37427195
50SOX2_21211035_ChIP-Seq_LN229_Gbm1.35842468
51TOP2B_26459242_ChIP-Seq_MCF-7_Human1.32502765
52POU3F2_20337985_ChIP-ChIP_501MEL_Human1.31428515
53PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.31276984
54NR3C1_23031785_ChIP-Seq_PC12_Mouse1.30745100
55SMAD_19615063_ChIP-ChIP_OVARY_Human1.30678322
56CBX2_27304074_Chip-Seq_ESCs_Mouse1.30634241
57ZNF274_21170338_ChIP-Seq_K562_Hela1.26828078
58OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.25156119
59RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.25089851
60FUS_26573619_Chip-Seq_HEK293_Human1.24072104
61GATA1_26923725_Chip-Seq_HPCs_Mouse1.23942000
62PIAS1_25552417_ChIP-Seq_VCAP_Human1.23400654
63TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.23164440
64RNF2_27304074_Chip-Seq_NSC_Mouse1.21784477
65STAT3_23295773_ChIP-Seq_U87_Human1.21620655
66SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.20790579
67OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.20749056
68VDR_22108803_ChIP-Seq_LS180_Human1.20533800
69RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.19744296
70DNAJC2_21179169_ChIP-ChIP_NT2_Human1.17172793
71RING1B_27294783_Chip-Seq_ESCs_Mouse1.16109591
72KDM2B_26808549_Chip-Seq_K562_Human1.14382538
73TCF4_23295773_ChIP-Seq_U87_Human1.13946754
74AR_19668381_ChIP-Seq_PC3_Human1.13721353
75P53_22127205_ChIP-Seq_FIBROBLAST_Human1.11588727
76PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.10122016
77TET1_21490601_ChIP-Seq_MESCs_Mouse1.07870196
78MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.07689579
79ARNT_22903824_ChIP-Seq_MCF-7_Human1.06144326
80PRDM14_20953172_ChIP-Seq_ESCs_Human1.06015771
81CTCF_27219007_Chip-Seq_Bcells_Human1.05525504
82FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.05293215
83UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.04610732
84ER_23166858_ChIP-Seq_MCF-7_Human1.02726454
85* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.02625657
86SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.02186621
87IGF1R_20145208_ChIP-Seq_DFB_Human1.02082248
88RUNX2_22187159_ChIP-Seq_PCA_Human1.01620142
89JUN_21703547_ChIP-Seq_K562_Human1.01420344
90RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.00963837
91YAP1_20516196_ChIP-Seq_MESCs_Mouse1.00238607
92CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.99163098
93AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.98331372
94AHR_22903824_ChIP-Seq_MCF-7_Human0.96747077
95WT1_25993318_ChIP-Seq_PODOCYTE_Human0.95270867
96ZFP281_27345836_Chip-Seq_ESCs_Mouse0.92735334
97SMAD3_21741376_ChIP-Seq_ESCs_Human0.92460824
98TP53_20018659_ChIP-ChIP_R1E_Mouse0.92174550
99NANOG_18555785_Chip-Seq_ESCs_Mouse0.91767527
100MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.89032221
101TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.88810234
102ZNF217_24962896_ChIP-Seq_MCF-7_Human0.88586035
103CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.87938970
104NR3C1_21868756_ChIP-Seq_MCF10A_Human0.86742668
105OCT4_19829295_ChIP-Seq_ESCs_Human0.86546172
106RING1B_27294783_Chip-Seq_NPCs_Mouse0.86201810
107WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.86174118
108TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.85975461
109SOX9_26525672_Chip-Seq_HEART_Mouse0.85602331
110POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.84979135
111TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.84979135
112RXR_22108803_ChIP-Seq_LS180_Human0.82952050
113VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.82680073
114SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.82564360
115SMAD4_21741376_ChIP-Seq_HESCs_Human0.82461168
116BCAT_22108803_ChIP-Seq_LS180_Human0.82240893
117* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.81558148
118LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.77086022
119DPY_21335234_ChIP-Seq_ESCs_Mouse0.74225092
120POU3F1_26484290_ChIP-Seq_ESCss_Mouse0.73328656
121MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.72733550
122PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.72644014
123NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.69702333

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.33020466
2MP0003880_abnormal_central_pattern5.32114587
3MP0003635_abnormal_synaptic_transmissio4.25024560
4MP0009745_abnormal_behavioral_response3.63827821
5MP0009046_muscle_twitch3.57320654
6MP0002064_seizures3.47713036
7MP0004270_analgesia3.44955145
8MP0002063_abnormal_learning/memory/cond3.42624500
9MP0001968_abnormal_touch/_nociception3.24945034
10MP0002572_abnormal_emotion/affect_behav2.98907152
11MP0002822_catalepsy2.86721792
12MP0002272_abnormal_nervous_system2.82209218
13MP0002736_abnormal_nociception_after2.81120238
14MP0001486_abnormal_startle_reflex2.58127632
15MP0002734_abnormal_mechanical_nocicepti2.55486288
16MP0001501_abnormal_sleep_pattern2.55016985
17MP0002735_abnormal_chemical_nociception2.36519379
18MP0001440_abnormal_grooming_behavior2.27089827
19MP0005423_abnormal_somatic_nervous2.23366313
20MP0002067_abnormal_sensory_capabilities2.10104615
21MP0009780_abnormal_chondrocyte_physiolo2.01264306
22MP0005646_abnormal_pituitary_gland2.00136988
23MP0003787_abnormal_imprinting1.97219409
24MP0001970_abnormal_pain_threshold1.95069276
25MP0002733_abnormal_thermal_nociception1.91405213
26MP0008569_lethality_at_weaning1.89239497
27MP0003879_abnormal_hair_cell1.89216562
28MP0005386_behavior/neurological_phenoty1.74573756
29MP0004924_abnormal_behavior1.74573756
30MP0006276_abnormal_autonomic_nervous1.72470606
31MP0002557_abnormal_social/conspecific_i1.70820190
32MP0001984_abnormal_olfaction1.67929320
33MP0002184_abnormal_innervation1.66109395
34MP0004811_abnormal_neuron_physiology1.64164395
35MP0003122_maternal_imprinting1.62980997
36MP0003329_amyloid_beta_deposits1.59197859
37MP0001529_abnormal_vocalization1.54868823
38MP0004142_abnormal_muscle_tone1.53630482
39MP0002909_abnormal_adrenal_gland1.48740041
40MP0000778_abnormal_nervous_system1.45637444
41MP0002066_abnormal_motor_capabilities/c1.42139524
42MP0001905_abnormal_dopamine_level1.41693689
43MP0000955_abnormal_spinal_cord1.35868319
44MP0004858_abnormal_nervous_system1.33426523
45MP0002882_abnormal_neuron_morphology1.31907863
46MP0001502_abnormal_circadian_rhythm1.28685555
47MP0003633_abnormal_nervous_system1.27216750
48MP0002837_dystrophic_cardiac_calcinosis1.26024986
49MP0001188_hyperpigmentation1.22813389
50MP0001348_abnormal_lacrimal_gland1.18679555
51MP0005645_abnormal_hypothalamus_physiol1.17093504
52MP0002876_abnormal_thyroid_physiology1.16252508
53MP0000751_myopathy1.15969849
54MP0008872_abnormal_physiological_respon1.11239773
55MP0004885_abnormal_endolymph1.09601298
56MP0003631_nervous_system_phenotype1.09016130
57MP0000013_abnormal_adipose_tissue1.01376647
58MP0002152_abnormal_brain_morphology0.97351514
59MP0005551_abnormal_eye_electrophysiolog0.97279523
60MP0010386_abnormal_urinary_bladder0.96623043
61MP0008874_decreased_physiological_sensi0.94847155
62MP0002229_neurodegeneration0.94846087
63MP0002069_abnormal_eating/drinking_beha0.93845070
64MP0001963_abnormal_hearing_physiology0.89344861
65MP0001986_abnormal_taste_sensitivity0.89031059
66MP0005535_abnormal_body_temperature0.85620094
67MP0004145_abnormal_muscle_electrophysio0.85007663
68MP0004215_abnormal_myocardial_fiber0.83691971
69MP0004085_abnormal_heartbeat0.83224035
70MP0004484_altered_response_of0.82434895
71MP0004742_abnormal_vestibular_system0.81424700
72MP0008877_abnormal_DNA_methylation0.78344964
73MP0001664_abnormal_digestion0.76970994
74MP0005394_taste/olfaction_phenotype0.76155163
75MP0005499_abnormal_olfactory_system0.76155163
76MP0004147_increased_porphyrin_level0.74743826
77MP0001177_atelectasis0.72973266
78MP0003632_abnormal_nervous_system0.72362243
79MP0000604_amyloidosis0.69482243
80MP0003646_muscle_fatigue0.67365044
81MP0002752_abnormal_somatic_nervous0.67221782
82MP0003075_altered_response_to0.67147157
83MP0002102_abnormal_ear_morphology0.66718334
84MP0002653_abnormal_ependyma_morphology0.65837559
85MP0003183_abnormal_peptide_metabolism0.65611904
86MP0003634_abnormal_glial_cell0.64924975
87MP0000026_abnormal_inner_ear0.64377419
88MP0000631_abnormal_neuroendocrine_gland0.64286313
89MP0003861_abnormal_nervous_system0.63868215
90MP0004043_abnormal_pH_regulation0.62535687
91MP0001485_abnormal_pinna_reflex0.61279443
92MP0003137_abnormal_impulse_conducting0.60986322
93MP0003690_abnormal_glial_cell0.60917562
94MP0004233_abnormal_muscle_weight0.60761047
95MP0002090_abnormal_vision0.60421566
96MP0003938_abnormal_ear_development0.58252108
97MP0001299_abnormal_eye_distance/0.57574120
98MP0005171_absent_coat_pigmentation0.57144170
99MP0005167_abnormal_blood-brain_barrier0.56475261
100MP0005187_abnormal_penis_morphology0.56441503
101MP0001943_abnormal_respiration0.55164392
102MP0000920_abnormal_myelination0.54115754
103MP0005623_abnormal_meninges_morphology0.52712429
104MP0003121_genomic_imprinting0.52529116
105MP0010768_mortality/aging0.51689500
106MP0003123_paternal_imprinting0.51504792
107MP0010769_abnormal_survival0.50307809
108MP0002638_abnormal_pupillary_reflex0.50263861
109MP0002082_postnatal_lethality0.49926195
110MP0010770_preweaning_lethality0.49926195
111MP0003956_abnormal_body_size0.49472885
112MP0004130_abnormal_muscle_cell0.49440230
113MP0006035_abnormal_mitochondrial_morpho0.49161890
114MP0008961_abnormal_basal_metabolism0.48264744
115MP0000639_abnormal_adrenal_gland0.44707529
116MP0005253_abnormal_eye_physiology0.44205416

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)8.97994569
2Myokymia (HP:0002411)6.66031119
3Atonic seizures (HP:0010819)6.02601112
4Focal seizures (HP:0007359)6.02153566
5Epileptic encephalopathy (HP:0200134)5.85659633
6Febrile seizures (HP:0002373)5.43536546
7Visual hallucinations (HP:0002367)5.15347549
8Absence seizures (HP:0002121)4.86638798
9Progressive cerebellar ataxia (HP:0002073)4.53176219
10Dialeptic seizures (HP:0011146)4.45059843
11Hyperventilation (HP:0002883)4.37316661
12Generalized tonic-clonic seizures (HP:0002069)4.14738115
13Broad-based gait (HP:0002136)3.61702571
14Gaze-evoked nystagmus (HP:0000640)3.55696470
15Cerebral hypomyelination (HP:0006808)3.42040567
16Impaired vibration sensation in the lower limbs (HP:0002166)3.40698834
17Abnormality of the corticospinal tract (HP:0002492)3.40565924
18Action tremor (HP:0002345)3.33116887
19Abnormal eating behavior (HP:0100738)3.31643398
20Dysdiadochokinesis (HP:0002075)3.22802767
21Poor eye contact (HP:0000817)3.21789276
22Neurofibrillary tangles (HP:0002185)3.16191731
23Amblyopia (HP:0000646)3.10428406
24Depression (HP:0000716)3.08249774
25Papilledema (HP:0001085)3.06900565
26Anxiety (HP:0000739)3.06284517
27Truncal ataxia (HP:0002078)3.02680238
28Dysmetria (HP:0001310)2.97645064
29Abnormal social behavior (HP:0012433)2.95845979
30Impaired social interactions (HP:0000735)2.95845979
31Pheochromocytoma (HP:0002666)2.86356023
32Dysmetric saccades (HP:0000641)2.74791996
33Epileptiform EEG discharges (HP:0011182)2.74199604
34Urinary bladder sphincter dysfunction (HP:0002839)2.74132051
35Abnormality of the lower motor neuron (HP:0002366)2.73641250
36Ankle clonus (HP:0011448)2.73616728
37Supranuclear gaze palsy (HP:0000605)2.72698622
38Scanning speech (HP:0002168)2.72074514
39Abnormal hair whorl (HP:0010721)2.71967455
40Degeneration of the lateral corticospinal tracts (HP:0002314)2.69673725
41Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.69673725
42Progressive inability to walk (HP:0002505)2.69052951
43Polyphagia (HP:0002591)2.67776251
44Peripheral hypomyelination (HP:0007182)2.64422553
45Neuroendocrine neoplasm (HP:0100634)2.64398383
46Impaired smooth pursuit (HP:0007772)2.64140200
47Postural instability (HP:0002172)2.62492030
48Abnormality of binocular vision (HP:0011514)2.61609667
49Diplopia (HP:0000651)2.61609667
50Akinesia (HP:0002304)2.58539860
51Neuronal loss in central nervous system (HP:0002529)2.54630838
52Drooling (HP:0002307)2.51141038
53Excessive salivation (HP:0003781)2.51141038
54Status epilepticus (HP:0002133)2.50712326
55Genetic anticipation (HP:0003743)2.50072675
56EEG with generalized epileptiform discharges (HP:0011198)2.49316915
57Inability to walk (HP:0002540)2.46119119
58Bradykinesia (HP:0002067)2.45916751
59Morphological abnormality of the pyramidal tract (HP:0002062)2.41740731
60Tetraplegia (HP:0002445)2.40987469
61Impaired vibratory sensation (HP:0002495)2.38966522
62Clonus (HP:0002169)2.38170169
63Split foot (HP:0001839)2.35316557
64Hypsarrhythmia (HP:0002521)2.33001319
65Amyotrophic lateral sclerosis (HP:0007354)2.32827930
66Focal dystonia (HP:0004373)2.32803246
67Urinary urgency (HP:0000012)2.32731219
68Spastic tetraplegia (HP:0002510)2.32399151
69Gait imbalance (HP:0002141)2.32171644
70Agitation (HP:0000713)2.32152145
71Failure to thrive in infancy (HP:0001531)2.29830539
72Torticollis (HP:0000473)2.28695546
73Abnormality of ocular smooth pursuit (HP:0000617)2.28438067
74CNS hypomyelination (HP:0003429)2.28018135
75Absent speech (HP:0001344)2.26312905
76Fetal akinesia sequence (HP:0001989)2.26208782
77Stereotypic behavior (HP:0000733)2.22175793
78Mutism (HP:0002300)2.21714825
79Resting tremor (HP:0002322)2.21350822
80Hemiparesis (HP:0001269)2.20791716
81Obstructive sleep apnea (HP:0002870)2.20474311
82Poor suck (HP:0002033)2.19911152
83Hemiplegia (HP:0002301)2.18817412
84Generalized myoclonic seizures (HP:0002123)2.18812188
85Spastic gait (HP:0002064)2.18641008
86Abnormal mitochondria in muscle tissue (HP:0008316)2.13454024
87Delusions (HP:0000746)2.10543700
88Congenital primary aphakia (HP:0007707)2.10040326
89Apathy (HP:0000741)2.09987522
90Termporal pattern (HP:0011008)2.08313158
91Insidious onset (HP:0003587)2.08313158
92Protruding tongue (HP:0010808)2.07753034
93Acute necrotizing encephalopathy (HP:0006965)2.07510670
94Incomplete penetrance (HP:0003829)2.06556557
95Specific learning disability (HP:0001328)2.06205620
96Blue irides (HP:0000635)2.06098302
97Limb dystonia (HP:0002451)2.02941065
98Medial flaring of the eyebrow (HP:0010747)2.01335128
99Gait ataxia (HP:0002066)2.00244590
100Annular pancreas (HP:0001734)2.00208321
101Craniofacial dystonia (HP:0012179)1.99168497
102Insomnia (HP:0100785)1.96139630
103Nephrogenic diabetes insipidus (HP:0009806)1.95895814
104Oligomenorrhea (HP:0000876)1.95467547
105Choreoathetosis (HP:0001266)1.95268834
106Ventricular fibrillation (HP:0001663)1.94522983
107Diminished motivation (HP:0000745)1.92328894
108Progressive macrocephaly (HP:0004481)1.91899551
109Psychosis (HP:0000709)1.91437295
110Hypoventilation (HP:0002791)1.91293359
111Spastic tetraparesis (HP:0001285)1.90546926
112Rapidly progressive (HP:0003678)1.89749858
113Hyperthyroidism (HP:0000836)1.88188603
114Narrow nasal bridge (HP:0000446)1.87111114
115Rigidity (HP:0002063)1.86845638
116Cholecystitis (HP:0001082)1.85534299
117Abnormal gallbladder physiology (HP:0012438)1.85534299
118Hypoplasia of the corpus callosum (HP:0002079)1.85015957
119Esotropia (HP:0000565)1.83519529
120Neoplasm of the peripheral nervous system (HP:0100007)1.83353745
121Intention tremor (HP:0002080)1.83089693
122Abnormality of saccadic eye movements (HP:0000570)1.82267229
123Hand muscle atrophy (HP:0009130)1.81414976
124Sleep apnea (HP:0010535)1.80826533
125Cerebral inclusion bodies (HP:0100314)1.80599395
126Abnormality of the labia minora (HP:0012880)1.80285302
127Lower limb muscle weakness (HP:0007340)1.80190832
128Paraplegia (HP:0010550)1.72598916
129Anomalous pulmonary venous return (HP:0010772)1.69332263
130Prolonged QT interval (HP:0001657)1.67510899

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.38531282
2EPHA44.08895728
3CASK3.73108258
4MAP3K123.42236234
5MAP3K43.26298066
6MAP3K93.24038159
7MAP2K73.05690686
8DAPK22.68174557
9CDK192.57672537
10MINK12.46607217
11DAPK12.22228062
12MAP2K42.14030995
13PLK22.08359216
14RIPK41.99378936
15PAK61.80036752
16PRPF4B1.77490710
17MARK11.74954092
18KSR21.67870248
19ARAF1.67391794
20NTRK21.66929056
21GRK51.62295931
22KSR11.48767690
23CAMKK11.48646487
24CDK51.39670956
25PRKCG1.37051128
26CCNB11.35297202
27OXSR11.35063971
28TNIK1.25965529
29PRKD31.23251236
30CAMKK21.22469701
31FES1.19421805
32PNCK1.17984577
33AKT31.17632195
34SIK31.13838196
35NME11.12422540
36NTRK11.10259770
37MAP3K131.09083099
38MAPK131.08806674
39STK381.08177866
40CAMK2A1.07171971
41PTK2B1.06628333
42SGK2231.01396898
43SGK4941.01396898
44DYRK20.96623077
45LIMK10.96139529
46SGK20.95149785
47BMPR20.94036446
48CDK180.91825669
49CAMK2B0.91234056
50SIK20.88937057
51TSSK60.87877739
52UHMK10.86802496
53CAMK10.86377351
54CDK150.85314659
55CDK140.83270157
56PDK40.82735279
57PDK30.82735279
58PKN10.81139040
59MAP3K20.79631808
60RAF10.77510182
61NEK10.75009791
62CDK11A0.73990605
63PRKCH0.71634314
64CSNK1G30.69655601
65TNK20.69640788
66MAP3K110.69338609
67SGK30.69258036
68BRAF0.69024476
69TRIM280.67245839
70STK110.65662063
71PINK10.64986162
72RIPK10.64948712
73CSNK1A1L0.63888800
74PDK10.63788477
75DAPK30.62903993
76TYRO30.62879493
77PRKCE0.62133675
78SGK10.62072273
79DYRK1A0.59345030
80PDPK10.57156599
81ALK0.54805610
82MAP3K10.54403204
83TESK10.53343209
84CAMK2G0.52216407
85MAPK100.50839079
86DYRK1B0.50602772
87PHKG10.50205534
88PHKG20.50205534
89STK160.49776591
90CAMK2D0.49538638
91TAOK10.48444166
92BCR0.47305854
93RET0.47029091
94PAK30.45999593
95FER0.45288314
96FGR0.44910825
97LMTK20.42404598
98ADRBK20.41441215
99BRSK10.41162979
100CSNK1G10.41117363
101RPS6KA30.41112858
102CAMK40.41013410
103PRKACA0.40592420
104LATS20.40401004
105MAP2K10.40194439
106PDK20.39078138
107FYN0.38126366
108CSNK1G20.37665585
109PRKCA0.37150424
110MARK20.36213544
111ROCK20.35960275
112ADRBK10.35643121
113CSNK1A10.35181851
114CSNK1E0.35011948
115MUSK0.33606412
116NEK60.33439071
117PRKCZ0.33356948
118GRK70.33314251
119MAP4K20.33310351
120MAPK120.32367056
121WNK30.32363701
122PRKG10.31088460
123WNK10.30657949
124FGFR20.30357933
125MAPK80.30214578
126CSNK1D0.26015355

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.20431647
2* Synaptic vesicle cycle_Homo sapiens_hsa047213.98537863
3Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.87876494
4Olfactory transduction_Homo sapiens_hsa047402.81510496
5GABAergic synapse_Homo sapiens_hsa047272.80053285
6Long-term potentiation_Homo sapiens_hsa047202.71203543
7Circadian entrainment_Homo sapiens_hsa047132.70660273
8Morphine addiction_Homo sapiens_hsa050322.61830353
9Amphetamine addiction_Homo sapiens_hsa050312.54432439
10Glutamatergic synapse_Homo sapiens_hsa047242.50202365
11* Collecting duct acid secretion_Homo sapiens_hsa049662.40533368
12Salivary secretion_Homo sapiens_hsa049702.14361868
13Dopaminergic synapse_Homo sapiens_hsa047282.13152353
14Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.02942582
15Insulin secretion_Homo sapiens_hsa049111.97322470
16Taste transduction_Homo sapiens_hsa047421.93328443
17Gastric acid secretion_Homo sapiens_hsa049711.81208264
18Long-term depression_Homo sapiens_hsa047301.72341945
19Cholinergic synapse_Homo sapiens_hsa047251.71218865
20Aldosterone synthesis and secretion_Homo sapiens_hsa049251.68878386
21Serotonergic synapse_Homo sapiens_hsa047261.67132014
22Renin secretion_Homo sapiens_hsa049241.66803503
23Calcium signaling pathway_Homo sapiens_hsa040201.63731529
24Oxytocin signaling pathway_Homo sapiens_hsa049211.56709625
25Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.47742304
26* Vibrio cholerae infection_Homo sapiens_hsa051101.47125330
27Cocaine addiction_Homo sapiens_hsa050301.46273024
28Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.42279200
29* Oxidative phosphorylation_Homo sapiens_hsa001901.31328113
30GnRH signaling pathway_Homo sapiens_hsa049121.26423350
31Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.25577473
32Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.24387657
33Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.21186715
34Gap junction_Homo sapiens_hsa045401.18874036
35Cardiac muscle contraction_Homo sapiens_hsa042601.16579577
36cAMP signaling pathway_Homo sapiens_hsa040241.16040510
37Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.15576331
38Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.15161165
39Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.13625661
40* Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.10147354
41Vitamin B6 metabolism_Homo sapiens_hsa007501.07955872
42Phosphatidylinositol signaling system_Homo sapiens_hsa040701.07746546
43Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.04636352
44Alzheimers disease_Homo sapiens_hsa050101.03383978
45Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.00272938
46Phototransduction_Homo sapiens_hsa047440.94733003
47Parkinsons disease_Homo sapiens_hsa050120.93951347
48cGMP-PKG signaling pathway_Homo sapiens_hsa040220.93644912
49Estrogen signaling pathway_Homo sapiens_hsa049150.93567704
50Type II diabetes mellitus_Homo sapiens_hsa049300.92744737
51Glioma_Homo sapiens_hsa052140.89748245
52ErbB signaling pathway_Homo sapiens_hsa040120.85836695
53Vascular smooth muscle contraction_Homo sapiens_hsa042700.85313294
54Melanogenesis_Homo sapiens_hsa049160.85264009
55Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.80069890
56Axon guidance_Homo sapiens_hsa043600.79706158
57Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.77361729
58Oocyte meiosis_Homo sapiens_hsa041140.74645115
59Pancreatic secretion_Homo sapiens_hsa049720.70029974
60Type I diabetes mellitus_Homo sapiens_hsa049400.69860980
61Thyroid hormone synthesis_Homo sapiens_hsa049180.63425783
62Huntingtons disease_Homo sapiens_hsa050160.62256645
63MAPK signaling pathway_Homo sapiens_hsa040100.60580381
64Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.58460224
65Glucagon signaling pathway_Homo sapiens_hsa049220.57985094
66Dilated cardiomyopathy_Homo sapiens_hsa054140.57885009
67* Rheumatoid arthritis_Homo sapiens_hsa053230.57045679
68Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.54915184
69SNARE interactions in vesicular transport_Homo sapiens_hsa041300.53552741
70Phospholipase D signaling pathway_Homo sapiens_hsa040720.53217939
71Dorso-ventral axis formation_Homo sapiens_hsa043200.50873906
72Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.49857382
73Inositol phosphate metabolism_Homo sapiens_hsa005620.48196661
74Ras signaling pathway_Homo sapiens_hsa040140.47181488
75Choline metabolism in cancer_Homo sapiens_hsa052310.46279521
762-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.45308485
77Circadian rhythm_Homo sapiens_hsa047100.43756264
78Regulation of autophagy_Homo sapiens_hsa041400.43082034
79Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.42733080
80Alcoholism_Homo sapiens_hsa050340.40991610
81Arginine biosynthesis_Homo sapiens_hsa002200.40848870
82Arginine and proline metabolism_Homo sapiens_hsa003300.40479118
83Rap1 signaling pathway_Homo sapiens_hsa040150.39410016
84Neurotrophin signaling pathway_Homo sapiens_hsa047220.38146674
85African trypanosomiasis_Homo sapiens_hsa051430.36643775
86Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.35990968
87Butanoate metabolism_Homo sapiens_hsa006500.34942506
88VEGF signaling pathway_Homo sapiens_hsa043700.34941040
89Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.32930139
90Carbohydrate digestion and absorption_Homo sapiens_hsa049730.32437865
91Endocytosis_Homo sapiens_hsa041440.31951940
92* Phagosome_Homo sapiens_hsa041450.31639258
93Pyruvate metabolism_Homo sapiens_hsa006200.31349650
94Thyroid hormone signaling pathway_Homo sapiens_hsa049190.29710742
95Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.28623372
96AMPK signaling pathway_Homo sapiens_hsa041520.28461078
97Sphingolipid signaling pathway_Homo sapiens_hsa040710.28218829
98Bile secretion_Homo sapiens_hsa049760.26866327
99beta-Alanine metabolism_Homo sapiens_hsa004100.26720684
100Prion diseases_Homo sapiens_hsa050200.25707224
101Fatty acid biosynthesis_Homo sapiens_hsa000610.25337544
102Insulin signaling pathway_Homo sapiens_hsa049100.24937046
103Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.22595607
104Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.22047441
105mTOR signaling pathway_Homo sapiens_hsa041500.21946783
106Wnt signaling pathway_Homo sapiens_hsa043100.21535755
107Ovarian steroidogenesis_Homo sapiens_hsa049130.21477185
108Ether lipid metabolism_Homo sapiens_hsa005650.21447277
109Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.21214540
110Mineral absorption_Homo sapiens_hsa049780.20914013
111Non-small cell lung cancer_Homo sapiens_hsa052230.20233813
112Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.20076877
113Longevity regulating pathway - mammal_Homo sapiens_hsa042110.19960334
114Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.19864938
115Hippo signaling pathway_Homo sapiens_hsa043900.19144635

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