ATP6V0A1

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 eukaryotic intracellular organelles. V-ATPase dependent organelle 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 gene encodes one of three A subunit proteins and the encoded protein is associated with clathrin-coated vesicles. Three transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)6.27955966
2regulation of short-term neuronal synaptic plasticity (GO:0048172)6.06675783
3locomotory exploration behavior (GO:0035641)5.60093052
4positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.24496508
5positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.12466153
6synaptic vesicle exocytosis (GO:0016079)5.11571703
7glutamate secretion (GO:0014047)5.01226652
8synaptic vesicle docking involved in exocytosis (GO:0016081)4.98229617
9regulation of synaptic vesicle exocytosis (GO:2000300)4.81742014
10vocalization behavior (GO:0071625)4.81022618
11regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.71883789
12regulation of glutamate receptor signaling pathway (GO:1900449)4.52688108
13regulation of synaptic vesicle transport (GO:1902803)4.30621948
14neurotransmitter secretion (GO:0007269)4.28485102
15regulation of synapse structural plasticity (GO:0051823)4.27506052
16postsynaptic membrane organization (GO:0001941)4.20276795
17sodium ion export (GO:0071436)4.19896629
18cellular potassium ion homeostasis (GO:0030007)4.18166357
19exploration behavior (GO:0035640)4.13239450
20protein localization to synapse (GO:0035418)4.12767744
21layer formation in cerebral cortex (GO:0021819)4.12016920
22proline transport (GO:0015824)4.10383738
23ionotropic glutamate receptor signaling pathway (GO:0035235)4.07715913
24regulation of neuronal synaptic plasticity (GO:0048168)4.02217935
25cerebellar granule cell differentiation (GO:0021707)3.95150902
26regulation of long-term neuronal synaptic plasticity (GO:0048169)3.89634512
27gamma-aminobutyric acid transport (GO:0015812)3.87304814
28regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.85706438
29neuronal ion channel clustering (GO:0045161)3.83234230
30amino acid import (GO:0043090)3.82104612
31neurotransmitter-gated ion channel clustering (GO:0072578)3.78254113
32activation of protein kinase A activity (GO:0034199)3.76328039
33membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.74636011
34cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.72018188
35neuronal action potential propagation (GO:0019227)3.71307048
36synaptic transmission, glutamatergic (GO:0035249)3.61064166
37synaptic vesicle endocytosis (GO:0048488)3.52401519
38glutamate receptor signaling pathway (GO:0007215)3.51232893
39long-term memory (GO:0007616)3.50958959
40regulation of synapse maturation (GO:0090128)3.50572480
41cell communication by electrical coupling (GO:0010644)3.49993429
42neuromuscular process controlling balance (GO:0050885)3.47689395
43neuron cell-cell adhesion (GO:0007158)3.47312412
44regulation of ARF protein signal transduction (GO:0032012)3.45900394
45positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.44374620
46cerebellar Purkinje cell differentiation (GO:0021702)3.43470078
47glycine transport (GO:0015816)3.42432582
48positive regulation of synapse maturation (GO:0090129)3.37871847
49regulation of excitatory postsynaptic membrane potential (GO:0060079)3.36936307
50neurotransmitter transport (GO:0006836)3.36729552
51positive regulation of dendritic spine development (GO:0060999)3.36170199
52dendritic spine morphogenesis (GO:0060997)3.35635815
53neuron-neuron synaptic transmission (GO:0007270)3.32836748
54positive regulation of membrane potential (GO:0045838)3.31017418
55neuromuscular process controlling posture (GO:0050884)3.26851147
56dendrite morphogenesis (GO:0048813)3.26677752
57establishment of mitochondrion localization (GO:0051654)3.22207899
58dendritic spine organization (GO:0097061)3.21720527
59regulation of postsynaptic membrane potential (GO:0060078)3.20981663
60regulation of neurotransmitter secretion (GO:0046928)3.20230856
61regulation of synaptic plasticity (GO:0048167)3.18697718
62vesicle transport along microtubule (GO:0047496)3.17504701
63regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.16998780
64membrane depolarization during action potential (GO:0086010)3.15068023
65regulation of neurotransmitter levels (GO:0001505)3.14391813
66acidic amino acid transport (GO:0015800)3.13414748
67central nervous system myelination (GO:0022010)3.12767125
68axon ensheathment in central nervous system (GO:0032291)3.12767125
69response to auditory stimulus (GO:0010996)3.11277176
70regulation of clathrin-mediated endocytosis (GO:2000369)3.11179570
71negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.08194712
72positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.05669553
73positive regulation of synaptic transmission, GABAergic (GO:0032230)3.04309506
74potassium ion import (GO:0010107)3.03671133
75negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.03306553
76alanine transport (GO:0032328)3.02990885
77cell migration in hindbrain (GO:0021535)3.02849421
78neuromuscular synaptic transmission (GO:0007274)3.01351468
79establishment of synaptic vesicle localization (GO:0097480)3.00257961
80synaptic vesicle transport (GO:0048489)3.00257961
81positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.99104791
82presynaptic membrane assembly (GO:0097105)2.98872889
83auditory behavior (GO:0031223)2.98124621
84L-amino acid import (GO:0043092)2.97522584
85presynaptic membrane organization (GO:0097090)2.96787943
86regulation of synaptic transmission, glutamatergic (GO:0051966)2.95875024
87clathrin coat assembly (GO:0048268)2.94487201
88long-term synaptic potentiation (GO:0060291)2.94426392
89regulation of dendritic spine morphogenesis (GO:0061001)2.94047418
90cerebellar Purkinje cell layer development (GO:0021680)2.93454799
91regulation of dendritic spine development (GO:0060998)2.93245445
92negative regulation of dendrite morphogenesis (GO:0050774)2.93121698
93positive regulation of dendritic spine morphogenesis (GO:0061003)2.91756418
94regulation of neurotransmitter transport (GO:0051588)2.91642695
95regulation of vesicle fusion (GO:0031338)2.89987916
96membrane depolarization (GO:0051899)2.88584373
97neuron recognition (GO:0008038)2.87171339
98cellular sodium ion homeostasis (GO:0006883)2.86932197
99synaptic transmission (GO:0007268)2.83376769
100prepulse inhibition (GO:0060134)2.82930082
101signal release (GO:0023061)2.81501293
102potassium ion homeostasis (GO:0055075)2.80265387
103regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.79226920
104gamma-aminobutyric acid signaling pathway (GO:0007214)2.78977763
105neuromuscular process (GO:0050905)2.78198100
106positive regulation of neurotransmitter transport (GO:0051590)2.77763606
107response to pheromone (GO:0019236)2.77295582
108vesicle docking involved in exocytosis (GO:0006904)2.77184014
109membrane hyperpolarization (GO:0060081)2.76895847
110organelle transport along microtubule (GO:0072384)2.76338007
111G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.76233267
112positive regulation of neurotransmitter secretion (GO:0001956)2.75605987
113axonal fasciculation (GO:0007413)2.74700372
114innervation (GO:0060384)2.73736108
115positive regulation of synaptic transmission (GO:0050806)2.73387081
116negative regulation of synaptic transmission, GABAergic (GO:0032229)2.71928975
117transmission of nerve impulse (GO:0019226)2.71185005
118positive regulation of potassium ion transmembrane transport (GO:1901381)2.69295819
119regulation of voltage-gated calcium channel activity (GO:1901385)2.67984540
120regulation of synaptic transmission (GO:0050804)2.67927959
121establishment of nucleus localization (GO:0040023)2.66756291
122axon cargo transport (GO:0008088)2.66331620
123cell communication involved in cardiac conduction (GO:0086065)2.63138304
124mating behavior (GO:0007617)2.61869268

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.79170853
2DROSHA_22980978_ChIP-Seq_HELA_Human2.80716527
3GBX2_23144817_ChIP-Seq_PC3_Human2.79993797
4SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.75672285
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.74240912
6* RARB_27405468_Chip-Seq_BRAIN_Mouse2.66844385
7* REST_21632747_ChIP-Seq_MESCs_Mouse2.57303138
8JARID2_20064375_ChIP-Seq_MESCs_Mouse2.52056691
9EZH2_18974828_ChIP-Seq_MESCs_Mouse2.45480021
10RNF2_18974828_ChIP-Seq_MESCs_Mouse2.45480021
11SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.41293052
12MTF2_20144788_ChIP-Seq_MESCs_Mouse2.38649392
13EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.33938306
14JARID2_20075857_ChIP-Seq_MESCs_Mouse2.32914604
15SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.24368933
16MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.21783076
17SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.20108975
18* REST_18959480_ChIP-ChIP_MESCs_Mouse2.15939300
19SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.14316286
20IKZF1_21737484_ChIP-ChIP_HCT116_Human2.10047752
21SUZ12_27294783_Chip-Seq_ESCs_Mouse2.04581130
22EZH2_27294783_Chip-Seq_ESCs_Mouse2.01822691
23EZH2_27304074_Chip-Seq_ESCs_Mouse1.94052321
24RNF2_27304074_Chip-Seq_ESCs_Mouse1.92161733
25ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.87127448
26CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.83290720
27EED_16625203_ChIP-ChIP_MESCs_Mouse1.79391193
28NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.72482944
29ERG_21242973_ChIP-ChIP_JURKAT_Human1.70443191
30GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.66500253
31AR_21572438_ChIP-Seq_LNCaP_Human1.59266681
32KDM2B_26808549_Chip-Seq_K562_Human1.54446596
33TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.52894579
34DNAJC2_21179169_ChIP-ChIP_NT2_Human1.47440173
35SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.43483637
36* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.38582998
37SMAD4_21799915_ChIP-Seq_A2780_Human1.36642356
38VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.36200825
39WT1_25993318_ChIP-Seq_PODOCYTE_Human1.34838797
40GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.33771366
41ZFP281_18757296_ChIP-ChIP_E14_Mouse1.33045202
42SOX2_21211035_ChIP-Seq_LN229_Gbm1.29055496
43NR3C1_23031785_ChIP-Seq_PC12_Mouse1.29041686
44RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.27239467
45WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.25869130
46AR_19668381_ChIP-Seq_PC3_Human1.25456112
47CTBP2_25329375_ChIP-Seq_LNCAP_Human1.25002293
48THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.23743268
49ZNF217_24962896_ChIP-Seq_MCF-7_Human1.22135746
50CDX2_19796622_ChIP-Seq_MESCs_Mouse1.20010283
51SMAD_19615063_ChIP-ChIP_OVARY_Human1.18548395
52RING1B_27294783_Chip-Seq_ESCs_Mouse1.16324281
53SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.15518699
54AHR_22903824_ChIP-Seq_MCF-7_Human1.14489541
55* OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.14430120
56* KDM2B_26808549_Chip-Seq_SUP-B15_Human1.13836352
57PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.13700329
58ZNF274_21170338_ChIP-Seq_K562_Hela1.13279540
59* SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.12638869
60ARNT_22903824_ChIP-Seq_MCF-7_Human1.10600895
61STAT3_23295773_ChIP-Seq_U87_Human1.09545687
62AR_25329375_ChIP-Seq_VCAP_Human1.08723379
63CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.08092711
64ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.07660907
65CBX2_27304074_Chip-Seq_ESCs_Mouse1.06982726
66SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.06469872
67CTBP1_25329375_ChIP-Seq_LNCAP_Human1.05889172
68P53_22127205_ChIP-Seq_FIBROBLAST_Human1.04818637
69RNF2_27304074_Chip-Seq_NSC_Mouse1.02653605
70ZFP57_27257070_Chip-Seq_ESCs_Mouse1.02506374
71RXR_22108803_ChIP-Seq_LS180_Human1.01694538
72SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.99871418
73DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.99101350
74ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.98796999
75TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.98693380
76TET1_21490601_ChIP-Seq_MESCs_Mouse0.98384951
77RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.98149609
78TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.97808588
79ZFP281_27345836_Chip-Seq_ESCs_Mouse0.97721868
80SMAD3_21741376_ChIP-Seq_EPCs_Human0.97253555
81SMAD3_21741376_ChIP-Seq_HESCs_Human0.96665312
82YAP1_20516196_ChIP-Seq_MESCs_Mouse0.96419424
83* TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.96271314
84SMAD4_21741376_ChIP-Seq_HESCs_Human0.95910349
85BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.94584598
86TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.94487843
87RING1B_27294783_Chip-Seq_NPCs_Mouse0.94051352
88* SMAD3_21741376_ChIP-Seq_ESCs_Human0.93811721
89LXR_22292898_ChIP-Seq_THP-1_Human0.92727020
90PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.92061718
91* OCT4_19829295_ChIP-Seq_ESCs_Human0.90960759
92MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.90552344
93* TCF4_23295773_ChIP-Seq_U87_Human0.89999914
94PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.89202881
95AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.88119230
96TAF15_26573619_Chip-Seq_HEK293_Human0.88069091
97RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.87766723
98TP53_16413492_ChIP-PET_HCT116_Human0.85555472
99* CTNNB1_20460455_ChIP-Seq_HCT116_Human0.85447582
100CTCF_27219007_Chip-Seq_Bcells_Human0.84844382
101ESR2_21235772_ChIP-Seq_MCF-7_Human0.84396266
102GATA1_26923725_Chip-Seq_HPCs_Mouse0.83872612
103PIAS1_25552417_ChIP-Seq_VCAP_Human0.83763706
104TOP2B_26459242_ChIP-Seq_MCF-7_Human0.83568019
105KDM2B_26808549_Chip-Seq_DND41_Human0.83498243
106TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.83478385
107SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.82837864
108SMC4_20622854_ChIP-Seq_HELA_Human0.82413969
109P300_19829295_ChIP-Seq_ESCs_Human0.82224618
110GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.81849559
111KLF4_19829295_ChIP-Seq_ESCs_Human0.81223639
112SRY_22984422_ChIP-ChIP_TESTIS_Rat0.80724746
113EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.80669317
114OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.79895061
115NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.76984468
116SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.74763902
117* LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.73082804
118SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.72959709
119* SMAD4_21741376_ChIP-Seq_ESCs_Human0.72501091
120TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.71233055

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.89968554
2MP0003635_abnormal_synaptic_transmissio4.06192097
3MP0003880_abnormal_central_pattern3.72309109
4MP0004270_analgesia3.53634643
5MP0009046_muscle_twitch3.18701525
6MP0002063_abnormal_learning/memory/cond3.17035041
7MP0009745_abnormal_behavioral_response3.14118448
8MP0002064_seizures3.09867406
9MP0000569_abnormal_digit_pigmentation2.95145665
10MP0001968_abnormal_touch/_nociception2.72038414
11MP0005423_abnormal_somatic_nervous2.65192604
12MP0002572_abnormal_emotion/affect_behav2.56630234
13MP0002822_catalepsy2.54538048
14MP0002734_abnormal_mechanical_nocicepti2.51453086
15MP0004858_abnormal_nervous_system2.38232059
16MP0002272_abnormal_nervous_system2.28250707
17MP0001486_abnormal_startle_reflex2.25655826
18MP0009780_abnormal_chondrocyte_physiolo2.24299731
19MP0002909_abnormal_adrenal_gland2.22717478
20MP0001501_abnormal_sleep_pattern2.12199355
21MP0002735_abnormal_chemical_nociception2.07431716
22MP0002733_abnormal_thermal_nociception2.02473720
23MP0008569_lethality_at_weaning2.01384119
24MP0003329_amyloid_beta_deposits1.99717100
25MP0002736_abnormal_nociception_after1.98611232
26MP0003172_abnormal_lysosome_physiology1.97537785
27MP0001440_abnormal_grooming_behavior1.95245537
28MP0001970_abnormal_pain_threshold1.89558533
29MP0004811_abnormal_neuron_physiology1.86944833
30MP0002067_abnormal_sensory_capabilities1.81705099
31MP0003879_abnormal_hair_cell1.71711686
32MP0004924_abnormal_behavior1.60006376
33MP0005386_behavior/neurological_phenoty1.60006376
34MP0002184_abnormal_innervation1.59789147
35MP0003633_abnormal_nervous_system1.56432025
36MP0002557_abnormal_social/conspecific_i1.56371112
37MP0000955_abnormal_spinal_cord1.47781559
38MP0000778_abnormal_nervous_system1.47596704
39MP0008961_abnormal_basal_metabolism1.41640253
40MP0004885_abnormal_endolymph1.39765341
41MP0003690_abnormal_glial_cell1.39571062
42MP0005646_abnormal_pituitary_gland1.38507838
43MP0002066_abnormal_motor_capabilities/c1.34624894
44MP0000604_amyloidosis1.34346555
45MP0002882_abnormal_neuron_morphology1.34326434
46MP0000751_myopathy1.29021004
47MP0003787_abnormal_imprinting1.28913171
48MP0003075_altered_response_to1.27261233
49MP0001984_abnormal_olfaction1.26854896
50MP0001502_abnormal_circadian_rhythm1.25426537
51MP0003631_nervous_system_phenotype1.25224132
52MP0001986_abnormal_taste_sensitivity1.23035340
53MP0004510_myositis1.22917052
54MP0002090_abnormal_vision1.20184305
55MP0005645_abnormal_hypothalamus_physiol1.18595347
56MP0004130_abnormal_muscle_cell1.13888352
57MP0004147_increased_porphyrin_level1.12787330
58MP0003183_abnormal_peptide_metabolism1.10254782
59MP0003634_abnormal_glial_cell1.10252404
60MP0003283_abnormal_digestive_organ1.09641981
61MP0006276_abnormal_autonomic_nervous1.09089425
62MP0002229_neurodegeneration1.08200489
63MP0005167_abnormal_blood-brain_barrier1.08197465
64MP0010386_abnormal_urinary_bladder1.07925502
65MP0003123_paternal_imprinting1.03769426
66MP0001529_abnormal_vocalization1.03572726
67MP0005058_abnormal_lysosome_morphology1.02495410
68MP0000013_abnormal_adipose_tissue0.99924852
69MP0002152_abnormal_brain_morphology0.98163694
70MP0005551_abnormal_eye_electrophysiolog0.95500545
71MP0003122_maternal_imprinting0.94789568
72MP0003632_abnormal_nervous_system0.92537874
73MP0002069_abnormal_eating/drinking_beha0.91517837
74MP0004142_abnormal_muscle_tone0.91288345
75MP0008874_decreased_physiological_sensi0.91209559
76MP0004233_abnormal_muscle_weight0.90145406
77MP0005535_abnormal_body_temperature0.89968931
78MP0004145_abnormal_muscle_electrophysio0.89079080
79MP0001177_atelectasis0.86634834
80MP0008872_abnormal_physiological_respon0.83398187
81MP0003303_peritoneal_inflammation0.82655945
82MP0004085_abnormal_heartbeat0.82143270
83MP0000920_abnormal_myelination0.80719225
84MP0004215_abnormal_myocardial_fiber0.73548588
85MP0001188_hyperpigmentation0.72001908
86MP0002837_dystrophic_cardiac_calcinosis0.71683409
87MP0003121_genomic_imprinting0.69989226
88MP0000747_muscle_weakness0.66826220
89MP0005171_absent_coat_pigmentation0.66151077
90MP0001299_abnormal_eye_distance/0.65821468
91MP0003045_fibrosis0.64567424
92MP0005623_abnormal_meninges_morphology0.63518620
93MP0010234_abnormal_vibrissa_follicle0.62267056
94MP0005409_darkened_coat_color0.60843622
95MP0003137_abnormal_impulse_conducting0.60529280
96MP0004484_altered_response_of0.60249308
97MP0001905_abnormal_dopamine_level0.60002780
98MP0004742_abnormal_vestibular_system0.57662772
99MP0005166_decreased_susceptibility_to0.56590314
100MP0005394_taste/olfaction_phenotype0.54532254
101MP0005499_abnormal_olfactory_system0.54532254
102MP0002752_abnormal_somatic_nervous0.53089928
103MP0004043_abnormal_pH_regulation0.52484584
104MP0001485_abnormal_pinna_reflex0.50998814
105MP0000003_abnormal_adipose_tissue0.50501923
106MP0002082_postnatal_lethality0.49993944
107MP0010770_preweaning_lethality0.49993944
108MP0001943_abnormal_respiration0.49939418
109MP0005253_abnormal_eye_physiology0.49832537
110MP0010769_abnormal_survival0.49772547
111MP0002876_abnormal_thyroid_physiology0.49683004
112MP0005448_abnormal_energy_balance0.49560246
113MP0002638_abnormal_pupillary_reflex0.49057135
114MP0001963_abnormal_hearing_physiology0.49004965
115MP0009840_abnormal_foam_cell0.48876516
116MP0010768_mortality/aging0.48655908
117MP0003956_abnormal_body_size0.47067898
118MP0000639_abnormal_adrenal_gland0.46646184

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)6.11793201
2Focal motor seizures (HP:0011153)5.93362479
3Focal seizures (HP:0007359)5.11925836
4Visual hallucinations (HP:0002367)5.04327544
5Supranuclear gaze palsy (HP:0000605)4.32920178
6Epileptic encephalopathy (HP:0200134)4.13354163
7Action tremor (HP:0002345)4.10235358
8Progressive cerebellar ataxia (HP:0002073)3.96778367
9Febrile seizures (HP:0002373)3.77552128
10Atonic seizures (HP:0010819)3.61205406
11Mutism (HP:0002300)3.59131771
12Ankle clonus (HP:0011448)3.55478829
13Absence seizures (HP:0002121)3.49101117
14Generalized tonic-clonic seizures (HP:0002069)3.46187109
15Limb dystonia (HP:0002451)3.45305359
16Depression (HP:0000716)3.34637065
17Postural instability (HP:0002172)3.31552184
18Urinary bladder sphincter dysfunction (HP:0002839)3.25556315
19Dialeptic seizures (HP:0011146)3.20931858
20Abnormality of the lower motor neuron (HP:0002366)3.07303163
21Impaired vibration sensation in the lower limbs (HP:0002166)3.06502866
22Poor eye contact (HP:0000817)3.06246249
23Peripheral hypomyelination (HP:0007182)3.05229532
24Impaired social interactions (HP:0000735)3.03267980
25Abnormal social behavior (HP:0012433)3.03267980
26Papilledema (HP:0001085)3.02662634
27Akinesia (HP:0002304)3.01731995
28Genetic anticipation (HP:0003743)2.95220028
29Dysdiadochokinesis (HP:0002075)2.94091420
30Abnormal eating behavior (HP:0100738)2.92843232
31Hemiplegia (HP:0002301)2.89371099
32Gaze-evoked nystagmus (HP:0000640)2.88540741
33Truncal ataxia (HP:0002078)2.79099731
34Dysmetria (HP:0001310)2.78290423
35Cerebral hypomyelination (HP:0006808)2.77791064
36Diplopia (HP:0000651)2.68835665
37Abnormality of binocular vision (HP:0011514)2.68835665
38Anxiety (HP:0000739)2.66479978
39Urinary urgency (HP:0000012)2.65197551
40Tetraplegia (HP:0002445)2.64925358
41Torticollis (HP:0000473)2.64864399
42Broad-based gait (HP:0002136)2.64654404
43Diminished motivation (HP:0000745)2.64229048
44Ventricular fibrillation (HP:0001663)2.62749111
45Neuronal loss in central nervous system (HP:0002529)2.61315145
46Neurofibrillary tangles (HP:0002185)2.60954051
47Cerebral inclusion bodies (HP:0100314)2.56555651
48Increased cerebral lipofuscin (HP:0011813)2.55434178
49Impaired smooth pursuit (HP:0007772)2.55220528
50Dysmetric saccades (HP:0000641)2.54561150
51Obstructive sleep apnea (HP:0002870)2.53749008
52Delusions (HP:0000746)2.50342434
53Spastic gait (HP:0002064)2.49158909
54Drooling (HP:0002307)2.47960284
55Excessive salivation (HP:0003781)2.47960284
56Intention tremor (HP:0002080)2.47877173
57Bradykinesia (HP:0002067)2.43197061
58Hemiparesis (HP:0001269)2.40884425
59Status epilepticus (HP:0002133)2.36042520
60Spastic tetraparesis (HP:0001285)2.33456784
61Focal dystonia (HP:0004373)2.32379061
62Abnormality of ocular smooth pursuit (HP:0000617)2.32277165
63Hand muscle atrophy (HP:0009130)2.31571978
64Sleep apnea (HP:0010535)2.30576624
65Insomnia (HP:0100785)2.30339571
66Progressive inability to walk (HP:0002505)2.30085968
67Bundle branch block (HP:0011710)2.27959704
68Lower limb muscle weakness (HP:0007340)2.27572808
69Agitation (HP:0000713)2.26426347
70Pointed chin (HP:0000307)2.22253377
71Stereotypic behavior (HP:0000733)2.20932108
72Amblyopia (HP:0000646)2.18200119
73Epileptiform EEG discharges (HP:0011182)2.16970459
74Lower limb amyotrophy (HP:0007210)2.16632155
75EEG with generalized epileptiform discharges (HP:0011198)2.13602579
76Scanning speech (HP:0002168)2.11288094
77Impaired vibratory sensation (HP:0002495)2.11239339
78Polyphagia (HP:0002591)2.10942857
79Craniofacial dystonia (HP:0012179)2.09660299
80Spastic tetraplegia (HP:0002510)2.09400534
81Rapidly progressive (HP:0003678)2.09173218
82Insidious onset (HP:0003587)2.06929613
83Termporal pattern (HP:0011008)2.06929613
84Hypsarrhythmia (HP:0002521)2.06750396
85Abnormality of the periventricular white matter (HP:0002518)2.06669358
86Megalencephaly (HP:0001355)2.06610035
87Pheochromocytoma (HP:0002666)2.06532612
88Amyotrophic lateral sclerosis (HP:0007354)2.05671703
89Abnormality of the corticospinal tract (HP:0002492)2.05358723
90Inappropriate behavior (HP:0000719)2.04627269
91Apathy (HP:0000741)2.02539287
92CNS hypomyelination (HP:0003429)2.01754458
93Annular pancreas (HP:0001734)2.00683768
94Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.00122093
95Degeneration of the lateral corticospinal tracts (HP:0002314)2.00122093
96Clonus (HP:0002169)1.97069174
97Rigidity (HP:0002063)1.96586812
98Hypoplasia of the corpus callosum (HP:0002079)1.95935090
99Fetal akinesia sequence (HP:0001989)1.95736439
100Abnormality of saccadic eye movements (HP:0000570)1.95305347
101Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.94617095
102Morphological abnormality of the pyramidal tract (HP:0002062)1.94492918
103Resting tremor (HP:0002322)1.94203890
104Absent speech (HP:0001344)1.93585112
105Global brain atrophy (HP:0002283)1.93322002
106Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.90430782
107Hyperventilation (HP:0002883)1.90157671
108Paraplegia (HP:0010550)1.89963296
109Distal upper limb amyotrophy (HP:0007149)1.88749751
110Upper limb amyotrophy (HP:0009129)1.88749751
111Dementia (HP:0000726)1.87881751
112Abnormal EKG (HP:0003115)1.87123328
113Macroorchidism (HP:0000053)1.86680688
114Hammertoe (HP:0001765)1.85640454
115Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)1.85625100
116Hypercortisolism (HP:0001578)1.85244826
117Generalized myoclonic seizures (HP:0002123)1.83851335
118Psychosis (HP:0000709)1.83742548
119Gait ataxia (HP:0002066)1.82798855
120Postural tremor (HP:0002174)1.82178556
121Failure to thrive in infancy (HP:0001531)1.81703877
122Abnormality of glycolipid metabolism (HP:0010969)1.77741352
123Abnormality of liposaccharide metabolism (HP:0010968)1.77741352
124Abnormality of glycosphingolipid metabolism (HP:0004343)1.77741352

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K94.18367361
2NTRK33.99807850
3EPHA43.37175268
4MARK13.05923254
5DAPK23.01339469
6MAP3K42.66139214
7MINK12.55645719
8PAK62.53955933
9KSR22.30188805
10CAMKK12.26895741
11PRKD32.25881078
12NTRK22.01223125
13NTRK11.89969979
14MAP2K71.86228391
15RIPK41.82736398
16MAP2K41.75455797
17STK381.72777489
18CDK51.52967853
19DAPK11.45878048
20SIK21.45118460
21CAMKK21.39846184
22KSR11.37542115
23PHKG21.35474855
24PHKG11.35474855
25RIPK11.35437740
26MAP3K21.34393367
27TAOK11.31724836
28MAP3K131.27232829
29LMTK21.23825035
30FES1.21236031
31PRKCH1.18130857
32CAMK1G1.17277845
33GRK51.15980961
34SCYL21.14768482
35MAP3K121.13359924
36PLK21.11790805
37PRPF4B1.10365398
38PRKCG1.08744888
39SGK31.06821168
40RET1.06005517
41TYRO31.04988695
42ALK1.03359710
43SGK4941.02661752
44SGK2231.02661752
45TRIB30.96878693
46CAMK10.95531677
47SGK20.93733351
48LATS20.92890835
49NEK10.92326547
50PKN10.91347525
51UHMK10.90036874
52EPHA30.88149975
53STK110.87229991
54CDK190.86269894
55MAPK130.85745307
56ARAF0.84997161
57PAK30.82338439
58PDPK10.80134215
59CAMK2G0.79983815
60PDK10.79879073
61MARK20.79084987
62MAP3K110.78359086
63SGK10.76068957
64CDC42BPA0.75587171
65CDK150.75349662
66CDK180.75245371
67MAP3K10.73496649
68PINK10.72377955
69CAMK2A0.71405870
70CDK140.71018066
71NEK60.70571961
72CAMK1D0.68620113
73PTK2B0.66169976
74TNIK0.65096094
75MAP3K70.65029784
76CASK0.64057369
77CDK11A0.62601032
78CSNK1A1L0.61733648
79CAMK40.61346654
80RPS6KA20.60307091
81FER0.59185017
82WNK10.57462441
83PRKCZ0.56912763
84FYN0.56784597
85RPS6KA30.55856538
86CSNK1G30.55470348
87DYRK1A0.52373317
88DAPK30.51870571
89ICK0.51374758
90OXSR10.49490723
91CSNK1G20.49370333
92MAPK100.48477052
93RAF10.47562750
94BCR0.47321348
95ERBB20.46719110
96MAP2K60.46695588
97LIMK10.46572769
98PNCK0.44489665
99PDGFRA0.44237583
100TNK20.44125162
101CAMK2B0.43822121
102MAP2K10.43590817
103JAK20.43550644
104FGFR20.43217516
105PRKCE0.42894459
106DMPK0.40830941
107BMX0.39820085
108MAPK120.39607131
109PKN20.38438938
110DYRK20.37877313
111DYRK1B0.35542036
112PTK20.35510250
113PRKG10.35248412
114JAK10.35096100
115PRKG20.34380632
116AKT30.34155569
117MAP3K60.34088337
118PRKAA10.33206168
119MAPK80.32973546
120CAMK2D0.32179430
121SRC0.32105774

Predicted pathways (KEGG)

RankGene SetZ-score
1* Synaptic vesicle cycle_Homo sapiens_hsa047213.26165312
2Nicotine addiction_Homo sapiens_hsa050332.92570076
3Olfactory transduction_Homo sapiens_hsa047402.52301826
4GABAergic synapse_Homo sapiens_hsa047272.43303892
5Circadian entrainment_Homo sapiens_hsa047132.38572470
6Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.30176443
7Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.21409625
8Long-term potentiation_Homo sapiens_hsa047202.18168288
9Morphine addiction_Homo sapiens_hsa050322.17708967
10Glutamatergic synapse_Homo sapiens_hsa047242.17374227
11Insulin secretion_Homo sapiens_hsa049111.93309192
12Salivary secretion_Homo sapiens_hsa049701.93182211
13Amphetamine addiction_Homo sapiens_hsa050311.92169915
14Dopaminergic synapse_Homo sapiens_hsa047281.83131989
15Cholinergic synapse_Homo sapiens_hsa047251.79059102
16Gastric acid secretion_Homo sapiens_hsa049711.75113773
17Aldosterone synthesis and secretion_Homo sapiens_hsa049251.74239799
18Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.62069961
19Type II diabetes mellitus_Homo sapiens_hsa049301.61108940
20Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.54504160
21Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.49472954
22Oxytocin signaling pathway_Homo sapiens_hsa049211.48110932
23Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.47099346
24Nitrogen metabolism_Homo sapiens_hsa009101.46900909
25Renin secretion_Homo sapiens_hsa049241.46375658
26Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.38526810
27Cocaine addiction_Homo sapiens_hsa050301.37124705
28Taste transduction_Homo sapiens_hsa047421.35211746
29Long-term depression_Homo sapiens_hsa047301.34952256
30GnRH signaling pathway_Homo sapiens_hsa049121.34803031
31Calcium signaling pathway_Homo sapiens_hsa040201.31907586
32Phosphatidylinositol signaling system_Homo sapiens_hsa040701.21555704
33Serotonergic synapse_Homo sapiens_hsa047261.20410739
34Glioma_Homo sapiens_hsa052141.19177583
35Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.18868095
36Gap junction_Homo sapiens_hsa045401.17275922
37cAMP signaling pathway_Homo sapiens_hsa040241.16638070
38Estrogen signaling pathway_Homo sapiens_hsa049151.13385509
39Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.12827919
40Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.10271565
41* Collecting duct acid secretion_Homo sapiens_hsa049661.07375626
42Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.02925818
43ErbB signaling pathway_Homo sapiens_hsa040120.97127383
44cGMP-PKG signaling pathway_Homo sapiens_hsa040220.96612755
45Carbohydrate digestion and absorption_Homo sapiens_hsa049730.96076339
46Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.93288959
47Phospholipase D signaling pathway_Homo sapiens_hsa040720.90389671
48Dilated cardiomyopathy_Homo sapiens_hsa054140.88531588
49Axon guidance_Homo sapiens_hsa043600.87020201
50Vitamin B6 metabolism_Homo sapiens_hsa007500.86068641
51Dorso-ventral axis formation_Homo sapiens_hsa043200.85554386
52Neurotrophin signaling pathway_Homo sapiens_hsa047220.84101054
53Melanogenesis_Homo sapiens_hsa049160.83490007
54mTOR signaling pathway_Homo sapiens_hsa041500.82349341
55Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.80952736
56Pancreatic secretion_Homo sapiens_hsa049720.78682705
57Vascular smooth muscle contraction_Homo sapiens_hsa042700.77523172
58Bile secretion_Homo sapiens_hsa049760.74697175
59Thyroid hormone synthesis_Homo sapiens_hsa049180.74154909
60* Vibrio cholerae infection_Homo sapiens_hsa051100.72491211
61Endocytosis_Homo sapiens_hsa041440.69444161
62Thyroid hormone signaling pathway_Homo sapiens_hsa049190.69063090
63Choline metabolism in cancer_Homo sapiens_hsa052310.68361163
64VEGF signaling pathway_Homo sapiens_hsa043700.67484211
65MAPK signaling pathway_Homo sapiens_hsa040100.65898491
66* Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.65368979
67Phototransduction_Homo sapiens_hsa047440.64467304
68Insulin signaling pathway_Homo sapiens_hsa049100.63884941
69Longevity regulating pathway - mammal_Homo sapiens_hsa042110.61782750
70Inositol phosphate metabolism_Homo sapiens_hsa005620.61018494
71Glucagon signaling pathway_Homo sapiens_hsa049220.60055967
72* Lysosome_Homo sapiens_hsa041420.59970306
73Endometrial cancer_Homo sapiens_hsa052130.59396458
74Oocyte meiosis_Homo sapiens_hsa041140.58694027
75Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.58410698
76Sphingolipid signaling pathway_Homo sapiens_hsa040710.57664876
77Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.55905203
78Cardiac muscle contraction_Homo sapiens_hsa042600.55148017
79Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.53562187
80Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.53498607
81AMPK signaling pathway_Homo sapiens_hsa041520.53264845
82Non-small cell lung cancer_Homo sapiens_hsa052230.52962283
83Rap1 signaling pathway_Homo sapiens_hsa040150.52551896
84Mineral absorption_Homo sapiens_hsa049780.52077537
85Prion diseases_Homo sapiens_hsa050200.51562219
86Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.50859333
87Ras signaling pathway_Homo sapiens_hsa040140.50110704
88ABC transporters_Homo sapiens_hsa020100.49992176
89Fatty acid biosynthesis_Homo sapiens_hsa000610.49756909
90Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.49463695
91Renal cell carcinoma_Homo sapiens_hsa052110.49161220
92Chemokine signaling pathway_Homo sapiens_hsa040620.48012265
93Type I diabetes mellitus_Homo sapiens_hsa049400.45869102
94Arginine and proline metabolism_Homo sapiens_hsa003300.45633077
95Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.45630637
96Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.45550175
97Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.45162446
98Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.45113731
99Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.44258462
100Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.44036872
101Glycosaminoglycan degradation_Homo sapiens_hsa005310.43553077
102Ovarian steroidogenesis_Homo sapiens_hsa049130.42742153
103Butanoate metabolism_Homo sapiens_hsa006500.42611574
104Circadian rhythm_Homo sapiens_hsa047100.41874613
105Central carbon metabolism in cancer_Homo sapiens_hsa052300.40572435
106Arginine biosynthesis_Homo sapiens_hsa002200.39517802
107Prolactin signaling pathway_Homo sapiens_hsa049170.37596078
108Adipocytokine signaling pathway_Homo sapiens_hsa049200.37514260
109SNARE interactions in vesicular transport_Homo sapiens_hsa041300.36746746
110Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.36712085
111Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.36659243
112Insulin resistance_Homo sapiens_hsa049310.36004792
113Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.35313085
114Ether lipid metabolism_Homo sapiens_hsa005650.32665703
115* Phagosome_Homo sapiens_hsa041450.32257724
116Histidine metabolism_Homo sapiens_hsa003400.29309938
117Glycerophospholipid metabolism_Homo sapiens_hsa005640.27261977
118beta-Alanine metabolism_Homo sapiens_hsa004100.25770721

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