RAB6A

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 member of the RAB family, which belongs to the small GTPase superfamily. GTPases of the RAB family bind to various effectors to regulate the targeting and fusion of transport carriers to acceptor compartments. This protein is located at the Golgi apparatus, which regulates trafficking in both a retrograde (from early endosomes and Golgi to the endoplasmic reticulum) and an anterograde (from the Golgi to the plasma membrane) directions. Myosin II is an effector of this protein in these processes. This protein is also involved in assembly of human cytomegalovirus (HCMV) by interacting with the cellular protein Bicaudal D1, which interacts with the HCMV virion tegument protein, pp150. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)5.72791766
2synaptic vesicle maturation (GO:0016188)5.68979301
3synaptic vesicle exocytosis (GO:0016079)5.49386806
4glutamate secretion (GO:0014047)5.27553926
5positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.21708400
6locomotory exploration behavior (GO:0035641)5.12670326
7vocalization behavior (GO:0071625)5.00587762
8regulation of synaptic vesicle exocytosis (GO:2000300)4.99448229
9positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.84660395
10regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.68345276
11neuronal action potential propagation (GO:0019227)4.61971638
12neuron cell-cell adhesion (GO:0007158)4.56531723
13layer formation in cerebral cortex (GO:0021819)4.45758667
14regulation of glutamate receptor signaling pathway (GO:1900449)4.41474558
15protein localization to synapse (GO:0035418)4.39799467
16regulation of synaptic vesicle transport (GO:1902803)4.39111457
17exploration behavior (GO:0035640)4.30227944
18neurotransmitter secretion (GO:0007269)4.27604982
19ionotropic glutamate receptor signaling pathway (GO:0035235)4.13862697
20synaptic vesicle docking involved in exocytosis (GO:0016081)4.13604424
21regulation of long-term neuronal synaptic plasticity (GO:0048169)4.08270468
22regulation of neuronal synaptic plasticity (GO:0048168)4.06295576
23dendritic spine morphogenesis (GO:0060997)3.96158182
24regulation of synapse structural plasticity (GO:0051823)3.84959318
25regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.81921275
26neuron recognition (GO:0008038)3.81546413
27glutamate receptor signaling pathway (GO:0007215)3.81134695
28proline transport (GO:0015824)3.81060016
29cellular potassium ion homeostasis (GO:0030007)3.72127573
30synaptic transmission, glutamatergic (GO:0035249)3.70457395
31gamma-aminobutyric acid transport (GO:0015812)3.70446467
32neuron-neuron synaptic transmission (GO:0007270)3.66745647
33activation of protein kinase A activity (GO:0034199)3.55013008
34neurotransmitter transport (GO:0006836)3.51325334
35axonal fasciculation (GO:0007413)3.50693023
36gamma-aminobutyric acid signaling pathway (GO:0007214)3.48097006
37positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.46694975
38long-term memory (GO:0007616)3.44415865
39negative regulation of synaptic transmission, GABAergic (GO:0032229)3.43408156
40regulation of excitatory postsynaptic membrane potential (GO:0060079)3.39438136
41synaptic vesicle endocytosis (GO:0048488)3.35379420
42regulation of dendritic spine morphogenesis (GO:0061001)3.35159435
43regulation of synaptic plasticity (GO:0048167)3.32462447
44positive regulation of synapse maturation (GO:0090129)3.32408110
45regulation of vesicle fusion (GO:0031338)3.31301314
46vesicle transport along microtubule (GO:0047496)3.31171393
47sodium ion export (GO:0071436)3.29242427
48regulation of clathrin-mediated endocytosis (GO:2000369)3.28411744
49membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.27729263
50positive regulation of membrane potential (GO:0045838)3.26599320
51regulation of neurotransmitter secretion (GO:0046928)3.25524548
52transmission of nerve impulse (GO:0019226)3.25301630
53establishment of mitochondrion localization (GO:0051654)3.24908807
54regulation of postsynaptic membrane potential (GO:0060078)3.24842211
55dendrite morphogenesis (GO:0048813)3.24231933
56neurotransmitter-gated ion channel clustering (GO:0072578)3.23475245
57pyrimidine nucleobase catabolic process (GO:0006208)3.22672096
58long-term synaptic potentiation (GO:0060291)3.21355420
59regulation of neurotransmitter levels (GO:0001505)3.20658677
60mating behavior (GO:0007617)3.17997463
61regulation of cAMP-dependent protein kinase activity (GO:2000479)3.13772150
62amino acid import (GO:0043090)3.13004739
63innervation (GO:0060384)3.10910211
64cell migration in hindbrain (GO:0021535)3.09520166
65regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.08801708
66neuromuscular process controlling balance (GO:0050885)3.08593480
67regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.07610510
68presynaptic membrane assembly (GO:0097105)3.06654110
69cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.03982933
70cerebellar Purkinje cell differentiation (GO:0021702)3.03031615
71postsynaptic membrane organization (GO:0001941)3.00722886
72regulation of synaptic transmission, glutamatergic (GO:0051966)2.99912906
73regulation of neurotransmitter transport (GO:0051588)2.98862115
74synapse assembly (GO:0007416)2.97882504
75cell communication involved in cardiac conduction (GO:0086065)2.95664862
76dendritic spine organization (GO:0097061)2.93906037
77* organelle transport along microtubule (GO:0072384)2.92343309
78auditory behavior (GO:0031223)2.92313788
79cerebellar granule cell differentiation (GO:0021707)2.92022515
80regulation of dendritic spine development (GO:0060998)2.91030817
81presynaptic membrane organization (GO:0097090)2.90777419
82negative regulation of microtubule polymerization (GO:0031115)2.90538536
83cell communication by electrical coupling (GO:0010644)2.89558273
84clathrin coat assembly (GO:0048268)2.88504741
85regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)2.87484590
86detection of calcium ion (GO:0005513)2.87071226
87membrane depolarization (GO:0051899)2.84715054
88membrane depolarization during action potential (GO:0086010)2.84016711
89positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.83876635
90negative regulation of dendrite morphogenesis (GO:0050774)2.83262451
91nucleobase catabolic process (GO:0046113)2.83257253
92learning (GO:0007612)2.83022569
93synaptic transmission (GO:0007268)2.82995941
94synapse organization (GO:0050808)2.82617606
95regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.81354839
96G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.81155985
97negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.80277944
98neuromuscular process controlling posture (GO:0050884)2.79922660
99synaptic vesicle transport (GO:0048489)2.79819915
100establishment of synaptic vesicle localization (GO:0097480)2.79819915
101regulation of synaptic transmission (GO:0050804)2.79771658
102neuronal ion channel clustering (GO:0045161)2.78949596
103social behavior (GO:0035176)2.78249250
104intraspecies interaction between organisms (GO:0051703)2.78249250
105positive regulation of dendritic spine development (GO:0060999)2.78221355
106G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.77599325
107glycine transport (GO:0015816)2.76169517
108positive regulation of dendritic spine morphogenesis (GO:0061003)2.75047578
109response to histamine (GO:0034776)2.74931700
110regulation of voltage-gated calcium channel activity (GO:1901385)2.74508255
111negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.74195546
112behavioral defense response (GO:0002209)2.73418813
113behavioral fear response (GO:0001662)2.73418813
114establishment of vesicle localization (GO:0051650)2.73258011
115L-amino acid import (GO:0043092)2.71718564
116potassium ion homeostasis (GO:0055075)2.67999660
117neurotransmitter uptake (GO:0001504)2.67250284
118acidic amino acid transport (GO:0015800)2.63312732
119nerve growth factor signaling pathway (GO:0038180)2.62992380
120cellular sodium ion homeostasis (GO:0006883)2.61773598
121response to auditory stimulus (GO:0010996)2.61053942
122vesicle docking (GO:0048278)2.54926965
123negative regulation of neurotransmitter secretion (GO:0046929)2.53382903
124negative regulation of neurotransmitter transport (GO:0051589)2.52519713
125cytoskeletal anchoring at plasma membrane (GO:0007016)2.50638044
126establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.48875282
127mitochondrion transport along microtubule (GO:0047497)2.48875282
128COPI coating of Golgi vesicle (GO:0048205)2.42958948
129Golgi transport vesicle coating (GO:0048200)2.42958948

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.94716733
2GBX2_23144817_ChIP-Seq_PC3_Human3.34679205
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.11786760
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.03072710
5JARID2_20064375_ChIP-Seq_MESCs_Mouse3.02995170
6EZH2_18974828_ChIP-Seq_MESCs_Mouse2.70310340
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.70310340
8SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.60089209
9JARID2_20075857_ChIP-Seq_MESCs_Mouse2.57774679
10REST_21632747_ChIP-Seq_MESCs_Mouse2.57706849
11MTF2_20144788_ChIP-Seq_MESCs_Mouse2.51946835
12SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.48476301
13SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.48163126
14SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.47761427
15EZH2_27304074_Chip-Seq_ESCs_Mouse2.42544361
16RARB_27405468_Chip-Seq_BRAIN_Mouse2.34249788
17EED_16625203_ChIP-ChIP_MESCs_Mouse2.23570178
18DROSHA_22980978_ChIP-Seq_HELA_Human2.21266340
19SUZ12_27294783_Chip-Seq_ESCs_Mouse2.18686580
20EZH2_27294783_Chip-Seq_ESCs_Mouse2.14346143
21RNF2_27304074_Chip-Seq_ESCs_Mouse2.13919126
22REST_18959480_ChIP-ChIP_MESCs_Mouse2.08540461
23NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.96517789
24ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.96409749
25WT1_19549856_ChIP-ChIP_CCG9911_Human1.92549381
26TAF15_26573619_Chip-Seq_HEK293_Human1.91639932
27AR_21572438_ChIP-Seq_LNCaP_Human1.85247707
28CTBP2_25329375_ChIP-Seq_LNCAP_Human1.83652797
29IKZF1_21737484_ChIP-ChIP_HCT116_Human1.72910561
30CTBP1_25329375_ChIP-Seq_LNCAP_Human1.71675570
31CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.71400952
32GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.71049567
33* SMAD4_21799915_ChIP-Seq_A2780_Human1.64200610
34NRF2_20460467_ChIP-Seq_MEFs_Mouse1.58410276
35NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.58410276
36MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.57456608
37ZNF274_21170338_ChIP-Seq_K562_Hela1.53318181
38EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.52963634
39TRIM28_21343339_ChIP-Seq_HEK293_Human1.52941134
40SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.50347925
41NR3C1_23031785_ChIP-Seq_PC12_Mouse1.49244363
42ERG_21242973_ChIP-ChIP_JURKAT_Human1.48401994
43PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.45045360
44ZFP57_27257070_Chip-Seq_ESCs_Mouse1.43375237
45RBPJ_22232070_ChIP-Seq_NCS_Mouse1.42417921
46P300_19829295_ChIP-Seq_ESCs_Human1.40507839
47OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.36955333
48* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.36618646
49PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.35823481
50SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.34611467
51* SOX2_21211035_ChIP-Seq_LN229_Gbm1.34307704
52* SMAD3_21741376_ChIP-Seq_EPCs_Human1.31778613
53CDX2_19796622_ChIP-Seq_MESCs_Mouse1.31495620
54TOP2B_26459242_ChIP-Seq_MCF-7_Human1.30712212
55SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.30578568
56RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.30180610
57RING1B_27294783_Chip-Seq_ESCs_Mouse1.29448942
58PIAS1_25552417_ChIP-Seq_VCAP_Human1.28603425
59SMAD_19615063_ChIP-ChIP_OVARY_Human1.27348186
60BMI1_23680149_ChIP-Seq_NPCS_Mouse1.26940068
61CLOCK_20551151_ChIP-Seq_293T_Human1.26193607
62IGF1R_20145208_ChIP-Seq_DFB_Human1.25386210
63AR_25329375_ChIP-Seq_VCAP_Human1.25262321
64TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.25031422
65EP300_21415370_ChIP-Seq_HL-1_Mouse1.24363453
66ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.23085709
67STAT3_23295773_ChIP-Seq_U87_Human1.22439629
68CBX2_27304074_Chip-Seq_ESCs_Mouse1.20541583
69TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.19452116
70ZNF217_24962896_ChIP-Seq_MCF-7_Human1.18661074
71MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.18360284
72WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.16810708
73RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.16739651
74TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.16547233
75CTNNB1_20460455_ChIP-Seq_HCT116_Human1.15112314
76* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.14308023
77AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.14021538
78ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.13837473
79* AR_19668381_ChIP-Seq_PC3_Human1.13605480
80RING1B_27294783_Chip-Seq_NPCs_Mouse1.13148234
81TCF4_18268006_ChIP-ChIP_LS174T_Human1.12785549
82THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.11219833
83POU3F2_20337985_ChIP-ChIP_501MEL_Human1.10677727
84ARNT_22903824_ChIP-Seq_MCF-7_Human1.10464371
85TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.09964402
86NANOG_18555785_Chip-Seq_ESCs_Mouse1.09198027
87RNF2_27304074_Chip-Seq_NSC_Mouse1.08717740
88P53_22127205_ChIP-Seq_FIBROBLAST_Human1.07934728
89AHR_22903824_ChIP-Seq_MCF-7_Human1.07357856
90YAP1_20516196_ChIP-Seq_MESCs_Mouse1.06742016
91EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.05744815
92ESR1_20079471_ChIP-ChIP_T-47D_Human1.04779900
93FUS_26573619_Chip-Seq_HEK293_Human1.04074571
94PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.03647857
95DNAJC2_21179169_ChIP-ChIP_NT2_Human1.03373726
96TCF4_23295773_ChIP-Seq_U87_Human1.01740843
97TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.01559459
98KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.00834214
99KDM2B_26808549_Chip-Seq_K562_Human1.00522967
100TP53_16413492_ChIP-PET_HCT116_Human1.00362853
101UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.99538355
102TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.99211260
103TBX3_20139965_ChIP-Seq_MESCs_Mouse0.98666004
104ZFP281_18757296_ChIP-ChIP_E14_Mouse0.97981264
105STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.97976942
106PRDM14_20953172_ChIP-Seq_ESCs_Human0.97871027
107LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.97863477
108CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.97804874
109TBX3_20139965_ChIP-Seq_ESCs_Mouse0.97441344
110GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.97276647
111* RUNX2_22187159_ChIP-Seq_PCA_Human0.97229242
112NR3C1_21868756_ChIP-Seq_MCF10A_Human0.97000600
113MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.96766453
114VDR_22108803_ChIP-Seq_LS180_Human0.96550845
115RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.95790082
116SMAD3_21741376_ChIP-Seq_ESCs_Human0.95616557
117CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.94590497
118TET1_21490601_ChIP-Seq_MESCs_Mouse0.93741073
119JUN_21703547_ChIP-Seq_K562_Human0.93726301
120SMAD4_21741376_ChIP-Seq_HESCs_Human0.92903632
121BCAT_22108803_ChIP-Seq_LS180_Human0.92876398
122TP53_18474530_ChIP-ChIP_U2OS_Human0.92658714
123EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.92047801
124TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91235817
125RXR_22108803_ChIP-Seq_LS180_Human0.85582859
126SMAD3_21741376_ChIP-Seq_HESCs_Human0.84402587
127* SMAD4_21741376_ChIP-Seq_EPCs_Human0.82685805

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.17558188
2MP0003880_abnormal_central_pattern4.79522547
3MP0003635_abnormal_synaptic_transmissio4.07100963
4MP0004270_analgesia4.00496235
5MP0002063_abnormal_learning/memory/cond3.23314122
6MP0009745_abnormal_behavioral_response3.22857709
7MP0002064_seizures3.08344067
8MP0001968_abnormal_touch/_nociception3.05726776
9MP0009046_muscle_twitch2.93686818
10MP0002734_abnormal_mechanical_nocicepti2.80224488
11MP0002572_abnormal_emotion/affect_behav2.67184349
12MP0002272_abnormal_nervous_system2.54195778
13MP0005423_abnormal_somatic_nervous2.50396517
14MP0002735_abnormal_chemical_nociception2.49010870
15MP0001486_abnormal_startle_reflex2.42540546
16MP0002736_abnormal_nociception_after2.34615658
17MP0003329_amyloid_beta_deposits2.29975585
18MP0002733_abnormal_thermal_nociception2.26135398
19MP0001440_abnormal_grooming_behavior2.20560720
20MP0001501_abnormal_sleep_pattern2.11482452
21MP0004858_abnormal_nervous_system2.06709653
22MP0001970_abnormal_pain_threshold2.06370072
23MP0009780_abnormal_chondrocyte_physiolo2.05405955
24MP0000778_abnormal_nervous_system2.02345231
25MP0006276_abnormal_autonomic_nervous2.00847209
26MP0002184_abnormal_innervation1.99255085
27MP0002067_abnormal_sensory_capabilities1.98612792
28MP0002822_catalepsy1.89609708
29MP0004811_abnormal_neuron_physiology1.77443967
30MP0002909_abnormal_adrenal_gland1.76277414
31MP0008569_lethality_at_weaning1.76095109
32MP0001984_abnormal_olfaction1.75484606
33MP0004924_abnormal_behavior1.72679261
34MP0005386_behavior/neurological_phenoty1.72679261
35MP0000955_abnormal_spinal_cord1.70276353
36MP0002557_abnormal_social/conspecific_i1.69845366
37MP0002882_abnormal_neuron_morphology1.47184399
38MP0004885_abnormal_endolymph1.44520914
39MP0002066_abnormal_motor_capabilities/c1.42870169
40MP0003879_abnormal_hair_cell1.37244012
41MP0001905_abnormal_dopamine_level1.32168901
42MP0001529_abnormal_vocalization1.31799908
43MP0003633_abnormal_nervous_system1.29411698
44MP0005646_abnormal_pituitary_gland1.25926035
45MP0002837_dystrophic_cardiac_calcinosis1.23004737
46MP0001502_abnormal_circadian_rhythm1.20590385
47MP0004142_abnormal_muscle_tone1.19814183
48MP0003122_maternal_imprinting1.14752365
49MP0003631_nervous_system_phenotype1.14679161
50MP0001188_hyperpigmentation1.14277078
51MP0002152_abnormal_brain_morphology1.13473008
52MP0000013_abnormal_adipose_tissue1.12982279
53MP0005275_abnormal_skin_tensile1.11730861
54MP0004145_abnormal_muscle_electrophysio1.08669391
55MP0005645_abnormal_hypothalamus_physiol1.07632701
56MP0003787_abnormal_imprinting1.04696262
57MP0000604_amyloidosis1.03193165
58MP0008438_abnormal_cutaneous_collagen1.02074905
59MP0003634_abnormal_glial_cell1.01600990
60MP0002796_impaired_skin_barrier1.01498863
61MP0002229_neurodegeneration1.01119308
62MP0000751_myopathy1.00821998
63MP0010386_abnormal_urinary_bladder0.98834866
64MP0000920_abnormal_myelination0.98766868
65MP0004742_abnormal_vestibular_system0.98094445
66MP0010234_abnormal_vibrissa_follicle0.97012370
67MP0000579_abnormal_nail_morphology0.95184478
68MP0003632_abnormal_nervous_system0.91523602
69MP0005623_abnormal_meninges_morphology0.91377904
70MP0002069_abnormal_eating/drinking_beha0.86819512
71MP0003121_genomic_imprinting0.85682784
72MP0001177_atelectasis0.85154033
73MP0003283_abnormal_digestive_organ0.85138994
74MP0002877_abnormal_melanocyte_morpholog0.83253251
75MP0008874_decreased_physiological_sensi0.82423492
76MP0008872_abnormal_physiological_respon0.82389754
77MP0010368_abnormal_lymphatic_system0.81928444
78MP0002752_abnormal_somatic_nervous0.81742011
79MP0004484_altered_response_of0.81588448
80MP0001299_abnormal_eye_distance/0.81397535
81MP0001963_abnormal_hearing_physiology0.80955005
82MP0004085_abnormal_heartbeat0.80326029
83MP0005535_abnormal_body_temperature0.79000667
84MP0004272_abnormal_basement_membrane0.77561339
85MP0005551_abnormal_eye_electrophysiolog0.76272748
86MP0003690_abnormal_glial_cell0.75269398
87MP0001879_abnormal_lymphatic_vessel0.74947876
88MP0005499_abnormal_olfactory_system0.73932740
89MP0005394_taste/olfaction_phenotype0.73932740
90MP0008961_abnormal_basal_metabolism0.72440400
91MP0005248_abnormal_Harderian_gland0.72065434
92MP0001485_abnormal_pinna_reflex0.71856772
93MP0004215_abnormal_myocardial_fiber0.71676811
94MP0000569_abnormal_digit_pigmentation0.71003976
95MP0002896_abnormal_bone_mineralization0.70992668
96MP0000631_abnormal_neuroendocrine_gland0.70951540
97MP0005187_abnormal_penis_morphology0.69975274
98MP0002090_abnormal_vision0.69331724
99MP0009384_cardiac_valve_regurgitation0.68607184
100MP0003566_abnormal_cell_adhesion0.66048697
101MP0004233_abnormal_muscle_weight0.65705489
102MP0003221_abnormal_cardiomyocyte_apopto0.64539137
103MP0003861_abnormal_nervous_system0.63924248
104MP0003123_paternal_imprinting0.63473949
105MP0001664_abnormal_digestion0.61899944
106MP0003385_abnormal_body_wall0.61786451
107MP0000462_abnormal_digestive_system0.61080927
108MP0003075_altered_response_to0.60831621
109MP0001943_abnormal_respiration0.60794362
110MP0000747_muscle_weakness0.57947378
111MP0003279_aneurysm0.57411425
112MP0003137_abnormal_impulse_conducting0.57183057
113MP0004043_abnormal_pH_regulation0.57145137
114MP0005620_abnormal_muscle_contractility0.56238251
115MP0002081_perinatal_lethality0.56037724
116MP0001542_abnormal_bone_strength0.54557927
117MP0001348_abnormal_lacrimal_gland0.54382765
118MP0010769_abnormal_survival0.51542368
119MP0002082_postnatal_lethality0.50591685
120MP0010770_preweaning_lethality0.50591685
121MP0005409_darkened_coat_color0.50560402

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.12654789
2Myokymia (HP:0002411)6.09990675
3Focal seizures (HP:0007359)5.43917666
4Visual hallucinations (HP:0002367)5.24762750
5Atonic seizures (HP:0010819)4.73673665
6Epileptic encephalopathy (HP:0200134)4.51475166
7Absence seizures (HP:0002121)4.16692416
8Febrile seizures (HP:0002373)4.01711440
9Progressive cerebellar ataxia (HP:0002073)3.99004046
10Supranuclear gaze palsy (HP:0000605)3.96582211
11Action tremor (HP:0002345)3.82299085
12Dialeptic seizures (HP:0011146)3.78038101
13Generalized tonic-clonic seizures (HP:0002069)3.73606540
14Ankle clonus (HP:0011448)3.39896851
15Cerebral inclusion bodies (HP:0100314)3.39146692
16Neurofibrillary tangles (HP:0002185)3.35602059
17Insidious onset (HP:0003587)3.32066579
18Termporal pattern (HP:0011008)3.32066579
19Papillary thyroid carcinoma (HP:0002895)3.22327028
20Broad-based gait (HP:0002136)3.15757715
21Papilledema (HP:0001085)3.13098908
22Mutism (HP:0002300)3.08627243
23Hyperventilation (HP:0002883)3.04820053
24Amblyopia (HP:0000646)3.04641201
25Poor eye contact (HP:0000817)3.01146690
26Depression (HP:0000716)3.00009576
27Impaired vibration sensation in the lower limbs (HP:0002166)2.92286417
28Progressive inability to walk (HP:0002505)2.91617952
29Truncal ataxia (HP:0002078)2.90997810
30Dysmetria (HP:0001310)2.90547945
31Urinary bladder sphincter dysfunction (HP:0002839)2.90526374
32Dysdiadochokinesis (HP:0002075)2.88653976
33Split foot (HP:0001839)2.85290470
34Abnormality of the corticospinal tract (HP:0002492)2.83702223
35Gaze-evoked nystagmus (HP:0000640)2.82202609
36Anxiety (HP:0000739)2.81751082
37Urinary urgency (HP:0000012)2.80583079
38Impaired social interactions (HP:0000735)2.80054813
39Abnormal social behavior (HP:0012433)2.80054813
40Pheochromocytoma (HP:0002666)2.77620250
41Excessive salivation (HP:0003781)2.75404741
42Drooling (HP:0002307)2.75404741
43Hammertoe (HP:0001765)2.74759485
44Abnormal eating behavior (HP:0100738)2.72094226
45Limb dystonia (HP:0002451)2.67270075
46Spastic gait (HP:0002064)2.63057942
47Postural instability (HP:0002172)2.61835674
48Megalencephaly (HP:0001355)2.57661640
49Aplasia involving bones of the upper limbs (HP:0009823)2.57281589
50Aplasia of the phalanges of the hand (HP:0009802)2.57281589
51Aplasia involving bones of the extremities (HP:0009825)2.57281589
52Genetic anticipation (HP:0003743)2.54275846
53Scanning speech (HP:0002168)2.53978052
54Tetraparesis (HP:0002273)2.46674443
55Epileptiform EEG discharges (HP:0011182)2.45861117
56Intention tremor (HP:0002080)2.45002588
57EEG with generalized epileptiform discharges (HP:0011198)2.40725892
58Absent speech (HP:0001344)2.39985431
59Hemiparesis (HP:0001269)2.39191431
60Amyotrophic lateral sclerosis (HP:0007354)2.37937289
61Neuroendocrine neoplasm (HP:0100634)2.36881111
62Agitation (HP:0000713)2.36741785
63Hand muscle atrophy (HP:0009130)2.34901081
64Diplopia (HP:0000651)2.32949259
65Abnormality of binocular vision (HP:0011514)2.32949259
66Torticollis (HP:0000473)2.29110842
67Hypsarrhythmia (HP:0002521)2.28531331
68Abnormality of the lower motor neuron (HP:0002366)2.27597718
69Lower limb muscle weakness (HP:0007340)2.25236533
70Bradykinesia (HP:0002067)2.24566256
71Inability to walk (HP:0002540)2.22426237
72Fetal akinesia sequence (HP:0001989)2.21162071
73Impaired smooth pursuit (HP:0007772)2.17647440
74Cortical dysplasia (HP:0002539)2.17588909
75Atrioventricular block (HP:0001678)2.17464187
76Generalized myoclonic seizures (HP:0002123)2.17379109
77Degeneration of the lateral corticospinal tracts (HP:0002314)2.16224760
78Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.16224760
79Decreased number of peripheral myelinated nerve fibers (HP:0003380)2.16205785
80Stereotypic behavior (HP:0000733)2.15323692
81Thyroid carcinoma (HP:0002890)2.13495068
82Arterial tortuosity (HP:0005116)2.11750152
83Focal dystonia (HP:0004373)2.11450052
84Polyphagia (HP:0002591)2.11038424
85Retinal dysplasia (HP:0007973)2.08118447
86Akinesia (HP:0002304)2.05540257
87Distal upper limb amyotrophy (HP:0007149)2.03407068
88Upper limb amyotrophy (HP:0009129)2.03407068
89Rapidly progressive (HP:0003678)2.01477551
90Vascular tortuosity (HP:0004948)1.97814097
91Status epilepticus (HP:0002133)1.96739561
92Ventricular fibrillation (HP:0001663)1.96037971
93Delusions (HP:0000746)1.94112608
94Heterochromia iridis (HP:0001100)1.91638074
95Gait ataxia (HP:0002066)1.90082536
96Craniofacial dystonia (HP:0012179)1.89192974
97Lower limb asymmetry (HP:0100559)1.89040259
98Impaired vibratory sensation (HP:0002495)1.88036862
99Abnormality of ocular smooth pursuit (HP:0000617)1.87476509
100Lower limb amyotrophy (HP:0007210)1.86808674
101Abnormality of salivation (HP:0100755)1.86678159
102Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.86527787
103Neoplasm of the peripheral nervous system (HP:0100007)1.86517626
104Neuronal loss in central nervous system (HP:0002529)1.86109106
105Steppage gait (HP:0003376)1.85133068
106Inappropriate behavior (HP:0000719)1.84911779
107Clonus (HP:0002169)1.84098134
108Apathy (HP:0000741)1.83986644
109Hemiplegia (HP:0002301)1.83672835
110Diminished motivation (HP:0000745)1.83653394
111Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.82334784
112Distal sensory impairment (HP:0002936)1.82066506
113Abnormality of the hip-girdle musculature (HP:0001445)1.81838836
114Abnormality of the musculature of the pelvis (HP:0001469)1.81838836
115Psychosis (HP:0000709)1.81295840
116Autoamputation (HP:0001218)1.80787950
117Hyperthyroidism (HP:0000836)1.79079034
118Hypoplasia of the brainstem (HP:0002365)1.78008934
119Aplasia/Hypoplasia of the brainstem (HP:0007362)1.78008934
120Peripheral hypomyelination (HP:0007182)1.77887872
121Morphological abnormality of the pyramidal tract (HP:0002062)1.77510682
122Blue irides (HP:0000635)1.75481489
123Thickened helices (HP:0000391)1.75068911
124Hypoventilation (HP:0002791)1.74795680
125Ulnar claw (HP:0001178)1.72023747
126Bundle branch block (HP:0011710)1.71983424
127Exercise-induced muscle cramps (HP:0003710)1.71847791
128Heart block (HP:0012722)1.70132718
129Abnormality of the foot musculature (HP:0001436)1.69399902
130Paraplegia (HP:0010550)1.69269283
131Foot dorsiflexor weakness (HP:0009027)1.67417171
132Shoulder girdle muscle weakness (HP:0003547)1.66793032
133Sleep apnea (HP:0010535)1.66723668
134Spastic paraplegia (HP:0001258)1.66630282
135Spastic tetraplegia (HP:0002510)1.66382577
136Abnormal atrioventricular conduction (HP:0005150)1.65563742

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K94.06401923
2NTRK34.03186574
3EPHA43.46329829
4MARK13.42638778
5MAP3K42.95591288
6MINK12.88333025
7KSR22.46817877
8NTRK12.42255714
9PAK62.37877251
10MAP2K72.37367706
11MAP3K122.31846994
12DAPK22.13053409
13MAP2K42.05776918
14TESK11.99823535
15RIPK41.98585200
16PNCK1.98379383
17NTRK21.90997843
18TRIM281.82698923
19KSR11.81840308
20PRKD31.78586910
21PLK21.56041278
22CAMKK11.53189806
23GRK51.52407757
24CDK51.51478470
25SIK31.51222781
26CASK1.50197183
27MAP3K21.48253021
28CDK191.45709860
29ARAF1.40523666
30LATS21.38863645
31UHMK11.24103132
32PHKG11.23368895
33PHKG21.23368895
34PDGFRA1.21719307
35MAPK131.20722191
36TYRO31.19888448
37DAPK11.19615516
38PAK31.17183183
39PRKCG1.12509673
40EPHA31.11500433
41LATS11.08048928
42CAMKK21.07587578
43STK241.07210777
44OXSR11.06430406
45CSNK1G21.04248870
46CDK141.03783216
47RET1.02967083
48MAP3K131.01618306
49STK381.00801523
50CAMK2A1.00361368
51SIK21.00332762
52RIPK10.96722236
53CDK180.95394347
54CDK150.93599218
55TNIK0.93475224
56CAMK2B0.87943904
57SCYL20.86264851
58STK390.84736062
59RAF10.82526970
60FES0.82108249
61CDK11A0.80936766
62PRPF4B0.79990698
63LMTK20.79040409
64STK110.78727742
65SGK2230.78165053
66SGK4940.78165053
67STK38L0.75063446
68PTK2B0.73696045
69FER0.73521890
70BMPR20.70951795
71DYRK1A0.69029379
72LIMK10.67782823
73PRKCH0.66253327
74MAP3K10.64949395
75CAMK10.64293678
76BCR0.64133290
77PTK20.63666605
78FGFR20.61819855
79WNK10.61745164
80PRKCE0.61612901
81MAPK120.61544787
82DYRK1B0.61395942
83CAMK2D0.59562102
84TAOK10.58596978
85FGR0.58170550
86MET0.57535297
87WNK40.57379907
88MAP2K10.57071971
89CSNK1G10.56693126
90SGK10.56093801
91MARK20.55438448
92PDPK10.54316381
93CAMK1G0.53948908
94PDK10.53770391
95PRKG20.53546449
96CAMK2G0.53224666
97PKN10.52707707
98PRKCZ0.52250864
99ALK0.52157192
100CSNK1G30.51360767
101EPHB20.51225523
102EPHB10.50854338
103ROCK20.50138473
104MAP3K60.49452232
105NME10.49324906
106PINK10.48367482
107MAPKAPK50.48154756
108MAP3K50.45790200
109YES10.45025740
110MAPK70.44873801
111DYRK20.44848619
112FYN0.44397374
113MAPK100.42843476
114PDGFRB0.41035974
115CAMK40.40341290
116RPS6KA40.40332661
117RPS6KA30.40184585
118NEK60.39905985
119SGK20.38902387
120CSNK1A1L0.36675958
121WNK30.35451902
122ERBB30.34690404
123SGK30.33023725
124DMPK0.32055632
125MOS0.31769704
126CCNB10.28528473

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.28854344
2Synaptic vesicle cycle_Homo sapiens_hsa047213.20676482
3Long-term potentiation_Homo sapiens_hsa047202.63320696
4GABAergic synapse_Homo sapiens_hsa047272.55984835
5Olfactory transduction_Homo sapiens_hsa047402.55359039
6Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.51237591
7Circadian entrainment_Homo sapiens_hsa047132.46449356
8Glutamatergic synapse_Homo sapiens_hsa047242.37607405
9Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.31226313
10Amphetamine addiction_Homo sapiens_hsa050312.30052391
11Morphine addiction_Homo sapiens_hsa050322.23765557
12Dopaminergic synapse_Homo sapiens_hsa047282.16562106
13Salivary secretion_Homo sapiens_hsa049702.04528231
14Insulin secretion_Homo sapiens_hsa049111.93346147
15Gastric acid secretion_Homo sapiens_hsa049711.83523466
16Cholinergic synapse_Homo sapiens_hsa047251.81422993
17Long-term depression_Homo sapiens_hsa047301.78578286
18Renin secretion_Homo sapiens_hsa049241.71639493
19Taste transduction_Homo sapiens_hsa047421.70599617
20Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.68626341
21Serotonergic synapse_Homo sapiens_hsa047261.67757863
22Aldosterone synthesis and secretion_Homo sapiens_hsa049251.66716242
23Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.64058337
24Collecting duct acid secretion_Homo sapiens_hsa049661.60857692
25Oxytocin signaling pathway_Homo sapiens_hsa049211.59096392
26Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.50870624
27Cocaine addiction_Homo sapiens_hsa050301.50646979
28GnRH signaling pathway_Homo sapiens_hsa049121.47923167
29Gap junction_Homo sapiens_hsa045401.40198872
30Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.36300271
31Calcium signaling pathway_Homo sapiens_hsa040201.36073043
32Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.29887457
33Estrogen signaling pathway_Homo sapiens_hsa049151.26102546
34Axon guidance_Homo sapiens_hsa043601.24758286
35Glioma_Homo sapiens_hsa052141.18497482
36Vibrio cholerae infection_Homo sapiens_hsa051101.17114818
37cAMP signaling pathway_Homo sapiens_hsa040241.15491276
38Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.12976869
39Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.12712995
40Melanogenesis_Homo sapiens_hsa049161.10324585
41Dorso-ventral axis formation_Homo sapiens_hsa043201.08585856
42Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.08096553
43ErbB signaling pathway_Homo sapiens_hsa040121.05910654
44Phosphatidylinositol signaling system_Homo sapiens_hsa040701.05287663
45Cardiac muscle contraction_Homo sapiens_hsa042601.05121203
46Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.05056258
47Type II diabetes mellitus_Homo sapiens_hsa049301.04361705
48cGMP-PKG signaling pathway_Homo sapiens_hsa040221.00630450
49Oocyte meiosis_Homo sapiens_hsa041140.95426356
50Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.95248213
51Steroid biosynthesis_Homo sapiens_hsa001000.94096996
52Vascular smooth muscle contraction_Homo sapiens_hsa042700.93394057
53Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.84631487
54Nitrogen metabolism_Homo sapiens_hsa009100.83504312
55Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.83494141
56Pancreatic secretion_Homo sapiens_hsa049720.82967964
57Thyroid hormone synthesis_Homo sapiens_hsa049180.82100355
58Phospholipase D signaling pathway_Homo sapiens_hsa040720.81125015
59Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.78596283
60VEGF signaling pathway_Homo sapiens_hsa043700.76426699
61AMPK signaling pathway_Homo sapiens_hsa041520.74835316
62Adherens junction_Homo sapiens_hsa045200.74768768
63Choline metabolism in cancer_Homo sapiens_hsa052310.73451443
64Hippo signaling pathway_Homo sapiens_hsa043900.71944617
65Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.71115713
66Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.70695653
67Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.70004710
682-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.67548648
69Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.67354688
70Neurotrophin signaling pathway_Homo sapiens_hsa047220.67318258
71Sphingolipid signaling pathway_Homo sapiens_hsa040710.67168320
72Phototransduction_Homo sapiens_hsa047440.66793849
73MAPK signaling pathway_Homo sapiens_hsa040100.66706275
74Dilated cardiomyopathy_Homo sapiens_hsa054140.66386163
75Vitamin B6 metabolism_Homo sapiens_hsa007500.66057534
76Renal cell carcinoma_Homo sapiens_hsa052110.65662196
77Alzheimers disease_Homo sapiens_hsa050100.65234199
78Carbohydrate digestion and absorption_Homo sapiens_hsa049730.63177351
79Ras signaling pathway_Homo sapiens_hsa040140.61979279
80Glucagon signaling pathway_Homo sapiens_hsa049220.60579817
81Focal adhesion_Homo sapiens_hsa045100.56419123
82Rap1 signaling pathway_Homo sapiens_hsa040150.55770610
83Endocytosis_Homo sapiens_hsa041440.54674534
84mTOR signaling pathway_Homo sapiens_hsa041500.53092127
85Endometrial cancer_Homo sapiens_hsa052130.50314259
86Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.50058607
87Prion diseases_Homo sapiens_hsa050200.48886568
88Alcoholism_Homo sapiens_hsa050340.48767339
89Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.48626220
90Arginine biosynthesis_Homo sapiens_hsa002200.48382040
91Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.48153436
92Oxidative phosphorylation_Homo sapiens_hsa001900.48123940
93Thyroid hormone signaling pathway_Homo sapiens_hsa049190.47798294
94Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.47443129
95ECM-receptor interaction_Homo sapiens_hsa045120.46834997
96Wnt signaling pathway_Homo sapiens_hsa043100.46454349
97Type I diabetes mellitus_Homo sapiens_hsa049400.46432159
98Regulation of actin cytoskeleton_Homo sapiens_hsa048100.45442187
99Inositol phosphate metabolism_Homo sapiens_hsa005620.45204562
100Insulin signaling pathway_Homo sapiens_hsa049100.44809607
101Bile secretion_Homo sapiens_hsa049760.44759924
102Fatty acid biosynthesis_Homo sapiens_hsa000610.44692919
103Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.44410695
104Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.44370570
105Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.44125619
106Platelet activation_Homo sapiens_hsa046110.43643525
107Sphingolipid metabolism_Homo sapiens_hsa006000.43208323
108Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.43110206
109Histidine metabolism_Homo sapiens_hsa003400.41416133
110Central carbon metabolism in cancer_Homo sapiens_hsa052300.41296377
111Amoebiasis_Homo sapiens_hsa051460.40260955
112Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.39358081
113Butanoate metabolism_Homo sapiens_hsa006500.38706818
114Non-small cell lung cancer_Homo sapiens_hsa052230.38129827
115Ovarian steroidogenesis_Homo sapiens_hsa049130.36141174
116Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.35956635
117Longevity regulating pathway - mammal_Homo sapiens_hsa042110.34846560
118Circadian rhythm_Homo sapiens_hsa047100.34718850
119Parkinsons disease_Homo sapiens_hsa050120.34643292
120Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.34205053
121Tight junction_Homo sapiens_hsa045300.34022173
122SNARE interactions in vesicular transport_Homo sapiens_hsa041300.32871538
123Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.32023167
124African trypanosomiasis_Homo sapiens_hsa051430.30733324

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