MVB12B

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: The protein encoded by this gene is a component of the ESCRT-I complex, a heterotetramer, which mediates the sorting of ubiquitinated cargo protein from the plasma membrane to the endosomal vesicle. ESCRT-I complex plays an essential role in HIV budding and endosomal protein sorting. Depletion and overexpression of this and related protein (MVB12A) inhibit HIV-1 infectivity and induce unusual viral assembly defects, indicating a role for MVB12 subunits in regulating ESCRT-mediated virus budding. Alternatively spliced 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)5.71982686
2pyrimidine nucleobase catabolic process (GO:0006208)5.41597415
3axon ensheathment in central nervous system (GO:0032291)5.29653824
4central nervous system myelination (GO:0022010)5.29653824
5locomotory exploration behavior (GO:0035641)5.29498391
6layer formation in cerebral cortex (GO:0021819)5.16459281
7regulation of short-term neuronal synaptic plasticity (GO:0048172)5.06117164
8positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.57775417
9positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.52799526
10presynaptic membrane assembly (GO:0097105)4.49657322
11regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.47138173
12vocalization behavior (GO:0071625)4.46900898
13regulation of synapse structural plasticity (GO:0051823)4.30398423
14dendritic spine morphogenesis (GO:0060997)4.28983620
15synaptic vesicle exocytosis (GO:0016079)4.23226031
16nucleobase catabolic process (GO:0046113)4.13683761
17glutamate secretion (GO:0014047)4.07376980
18regulation of glutamate receptor signaling pathway (GO:1900449)4.03783333
19regulation of synaptic vesicle exocytosis (GO:2000300)3.99992070
20exploration behavior (GO:0035640)3.92689585
21protein localization to synapse (GO:0035418)3.80584721
22dendrite morphogenesis (GO:0048813)3.80474873
23neuron cell-cell adhesion (GO:0007158)3.79703972
24ionotropic glutamate receptor signaling pathway (GO:0035235)3.76934531
25synaptic vesicle docking involved in exocytosis (GO:0016081)3.73857850
26regulation of neuronal synaptic plasticity (GO:0048168)3.72246564
27sodium ion export (GO:0071436)3.69050146
28regulation of long-term neuronal synaptic plasticity (GO:0048169)3.62990536
29cell migration in hindbrain (GO:0021535)3.62350010
30neuron recognition (GO:0008038)3.60337577
31regulation of synaptic vesicle transport (GO:1902803)3.54242150
32proline transport (GO:0015824)3.47068129
33axonal fasciculation (GO:0007413)3.44052164
34cellular potassium ion homeostasis (GO:0030007)3.41021974
35clathrin coat assembly (GO:0048268)3.40300739
36neurotransmitter secretion (GO:0007269)3.39001910
37establishment of nucleus localization (GO:0040023)3.38856051
38neuromuscular process controlling balance (GO:0050885)3.33673297
39glycine transport (GO:0015816)3.32319396
40regulation of ARF protein signal transduction (GO:0032012)3.30538956
41neuronal action potential propagation (GO:0019227)3.30325921
42amino acid import (GO:0043090)3.29663093
43positive regulation of synapse maturation (GO:0090129)3.24722078
44activation of protein kinase A activity (GO:0034199)3.20074658
45glutamate receptor signaling pathway (GO:0007215)3.14781536
46synaptic transmission, glutamatergic (GO:0035249)3.14367711
47cytoskeletal anchoring at plasma membrane (GO:0007016)3.12250537
48membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.11747294
49regulation of dendritic spine morphogenesis (GO:0061001)3.11591879
50cerebellar Purkinje cell differentiation (GO:0021702)3.10343874
51gamma-aminobutyric acid transport (GO:0015812)3.07821466
52central nervous system projection neuron axonogenesis (GO:0021952)3.06846611
53nerve growth factor signaling pathway (GO:0038180)3.06638120
54long-term memory (GO:0007616)3.06365573
55synaptic vesicle endocytosis (GO:0048488)3.04363487
56positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.02939672
57auditory behavior (GO:0031223)3.02066885
58regulation of synapse maturation (GO:0090128)3.01903413
59negative regulation of microtubule polymerization (GO:0031115)3.00530425
60G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.98072534
61cell communication by electrical coupling (GO:0010644)2.95524576
62response to auditory stimulus (GO:0010996)2.95443053
63L-amino acid import (GO:0043092)2.94348582
64mechanosensory behavior (GO:0007638)2.93787858
65neuromuscular synaptic transmission (GO:0007274)2.91542554
66neuronal ion channel clustering (GO:0045161)2.91465408
67neurotransmitter-gated ion channel clustering (GO:0072578)2.90152303
68regulation of excitatory postsynaptic membrane potential (GO:0060079)2.89348525
69positive regulation of membrane potential (GO:0045838)2.85431101
70cerebellar Purkinje cell layer development (GO:0021680)2.84758685
71regulation of ARF GTPase activity (GO:0032312)2.84570307
72regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.84336381
73neuron-neuron synaptic transmission (GO:0007270)2.83044675
74potassium ion import (GO:0010107)2.81775643
75establishment of mitochondrion localization (GO:0051654)2.81588289
76cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.80726287
77positive regulation of dendritic spine morphogenesis (GO:0061003)2.80353145
78positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.79939813
79organelle transport along microtubule (GO:0072384)2.79570148
80regulation of synaptic plasticity (GO:0048167)2.79138786
81prepulse inhibition (GO:0060134)2.78609374
82vesicle transport along microtubule (GO:0047496)2.77390900
83positive regulation of dendritic spine development (GO:0060999)2.77194511
84regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.75828841
85cellular response to monoamine stimulus (GO:0071868)2.75474080
86cellular response to catecholamine stimulus (GO:0071870)2.75474080
87regulation of postsynaptic membrane potential (GO:0060078)2.74953345
88positive regulation of synapse assembly (GO:0051965)2.74570817
89regulation of dendritic spine development (GO:0060998)2.74443018
90regulation of neurotransmitter levels (GO:0001505)2.73758852
91regulation of respiratory system process (GO:0044065)2.73406538
92cerebellar granule cell differentiation (GO:0021707)2.73351437
93axon extension (GO:0048675)2.73129435
94dendritic spine organization (GO:0097061)2.72101848
95membrane depolarization during action potential (GO:0086010)2.71817653
96neurotransmitter transport (GO:0006836)2.70711007
97regulation of neurotransmitter transport (GO:0051588)2.69958568
98negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.68243899
99potassium ion homeostasis (GO:0055075)2.67471513
100postsynaptic membrane organization (GO:0001941)2.66863985
101transmission of nerve impulse (GO:0019226)2.66652401
102negative regulation of synaptic transmission, GABAergic (GO:0032229)2.64780771
103astrocyte development (GO:0014002)2.64273682
104regulation of clathrin-mediated endocytosis (GO:2000369)2.63595005
105negative regulation of axonogenesis (GO:0050771)2.63398683
106membrane assembly (GO:0071709)2.63335886
107regulation of neurotransmitter secretion (GO:0046928)2.63161435
108adult walking behavior (GO:0007628)2.62752852
109cell-cell junction maintenance (GO:0045217)2.62122272
110positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.60889811
111regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.60719724
112establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.56526716
113mitochondrion transport along microtubule (GO:0047497)2.56526716
114neuron projection morphogenesis (GO:0048812)2.55356902
115synapse organization (GO:0050808)2.54875000
116positive regulation of fibroblast migration (GO:0010763)2.53941010
117synapse assembly (GO:0007416)2.52555184
118positive regulation of synaptic transmission, GABAergic (GO:0032230)2.52412325
119axon cargo transport (GO:0008088)2.52017176
120presynaptic membrane organization (GO:0097090)2.51749031
121membrane hyperpolarization (GO:0060081)2.51618930
122glial cell proliferation (GO:0014009)2.51388719
123neuromuscular process (GO:0050905)2.51025735

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.94298730
2JARID2_20064375_ChIP-Seq_MESCs_Mouse2.75981668
3DROSHA_22980978_ChIP-Seq_HELA_Human2.73664792
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.68138809
5SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.66805412
6EZH2_18974828_ChIP-Seq_MESCs_Mouse2.63021239
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.63021239
8EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.56249666
9RARB_27405468_Chip-Seq_BRAIN_Mouse2.54807935
10MTF2_20144788_ChIP-Seq_MESCs_Mouse2.39317136
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.36694914
12SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.30123931
13EZH2_27304074_Chip-Seq_ESCs_Mouse2.24419765
14SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.22952197
15SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.22520266
16SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.21763934
17MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.21269439
18REST_21632747_ChIP-Seq_MESCs_Mouse2.21049687
19EZH2_27294783_Chip-Seq_ESCs_Mouse2.18650128
20RNF2_27304074_Chip-Seq_ESCs_Mouse2.17777200
21SUZ12_27294783_Chip-Seq_ESCs_Mouse2.16488115
22GBX2_23144817_ChIP-Seq_PC3_Human2.15099418
23ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.98422696
24KDM2B_26808549_Chip-Seq_K562_Human1.92529565
25AR_21572438_ChIP-Seq_LNCaP_Human1.87436023
26CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.86889540
27EED_16625203_ChIP-ChIP_MESCs_Mouse1.85471067
28REST_18959480_ChIP-ChIP_MESCs_Mouse1.84803056
29WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.83779285
30IKZF1_21737484_ChIP-ChIP_HCT116_Human1.82697284
31ZFP281_18757296_ChIP-ChIP_E14_Mouse1.79071746
32NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.75276629
33KDM2B_26808549_Chip-Seq_SUP-B15_Human1.74959611
34EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.65940657
35TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.60670301
36RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.58172320
37TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.54313654
38KDM2B_26808549_Chip-Seq_DND41_Human1.53435194
39WT1_25993318_ChIP-Seq_PODOCYTE_Human1.52174958
40DNAJC2_21179169_ChIP-ChIP_NT2_Human1.52034664
41VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.51012777
42TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.48353236
43EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.48339690
44IGF1R_20145208_ChIP-Seq_DFB_Human1.48012706
45ERG_21242973_ChIP-ChIP_JURKAT_Human1.47963198
46ZFP281_27345836_Chip-Seq_ESCs_Mouse1.47954369
47RING1B_27294783_Chip-Seq_ESCs_Mouse1.44994972
48KDM2B_26808549_Chip-Seq_JURKAT_Human1.42728488
49RNF2_27304074_Chip-Seq_NSC_Mouse1.41235157
50STAT6_21828071_ChIP-Seq_BEAS2B_Human1.37531767
51DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.34393556
52RING1B_27294783_Chip-Seq_NPCs_Mouse1.33493116
53GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.27186607
54GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.26500615
55PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.25868152
56RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.19259846
57AR_19668381_ChIP-Seq_PC3_Human1.18542561
58PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.17270550
59RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.16342746
60CDX2_19796622_ChIP-Seq_MESCs_Mouse1.16333522
61RBPJ_22232070_ChIP-Seq_NCS_Mouse1.15147282
62SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.14901275
63TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.14845275
64SOX2_21211035_ChIP-Seq_LN229_Gbm1.14773034
65OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.13754980
66NR3C1_23031785_ChIP-Seq_PC12_Mouse1.12050822
67SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.11934650
68SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.11554337
69KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.10920817
70ZNF217_24962896_ChIP-Seq_MCF-7_Human1.10496855
71AHR_22903824_ChIP-Seq_MCF-7_Human1.07143240
72ARNT_22903824_ChIP-Seq_MCF-7_Human1.06616270
73YAP1_20516196_ChIP-Seq_MESCs_Mouse1.04968524
74SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.04779217
75KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.04290926
76GATA1_26923725_Chip-Seq_HPCs_Mouse1.02992247
77SMAD4_21799915_ChIP-Seq_A2780_Human1.01478665
78TP53_20018659_ChIP-ChIP_R1E_Mouse1.01412878
79SMAD4_21741376_ChIP-Seq_HESCs_Human1.00192295
80P53_22127205_ChIP-Seq_FIBROBLAST_Human1.00000530
81CTBP2_25329375_ChIP-Seq_LNCAP_Human0.99616072
82LXR_22292898_ChIP-Seq_THP-1_Human0.98704395
83ZFP57_27257070_Chip-Seq_ESCs_Mouse0.98370895
84TET1_21490601_ChIP-Seq_MESCs_Mouse0.98192819
85ZNF274_21170338_ChIP-Seq_K562_Hela0.97910548
86THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.97591342
87SMAD_19615063_ChIP-ChIP_OVARY_Human0.97221650
88TP53_16413492_ChIP-PET_HCT116_Human0.96654646
89ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.96592920
90SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.96325203
91SMAD3_21741376_ChIP-Seq_ESCs_Human0.96290221
92NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.95041995
93TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.94403550
94TCF7_22412390_ChIP-Seq_EML_Mouse0.93926999
95HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.93696324
96P300_27058665_Chip-Seq_ZR-75-30cells_Human0.91164098
97SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.90928193
98STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.90843669
99CTNNB1_20460455_ChIP-Seq_HCT116_Human0.90132495
100ESR1_20079471_ChIP-ChIP_T-47D_Human0.90021697
101ESR2_21235772_ChIP-Seq_MCF-7_Human0.89291550
102CTCF_27219007_Chip-Seq_Bcells_Human0.88851604
103MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.88749660
104LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.88711736
105SMAD3_21741376_ChIP-Seq_EPCs_Human0.88533975
106STAT3_23295773_ChIP-Seq_U87_Human0.88069150
107POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.88057030
108TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.88057030
109ISL1_27105846_Chip-Seq_CPCs_Mouse0.87869002
110OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.86815413
111ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.86109582
112SMAD3_21741376_ChIP-Seq_HESCs_Human0.85725459
113CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.85112262
114OCT4_19829295_ChIP-Seq_ESCs_Human0.84467313
115PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.84382130
116CBX2_27304074_Chip-Seq_ESCs_Mouse0.84130052
117CTBP1_25329375_ChIP-Seq_LNCAP_Human0.84079872
118CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.82361024
119NFIB_24661679_ChIP-Seq_LUNG_Mouse0.81184828
120CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.78087579

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.42170824
2MP0003635_abnormal_synaptic_transmissio3.73101124
3MP0003880_abnormal_central_pattern3.54803134
4MP0004270_analgesia3.50161640
5MP0005423_abnormal_somatic_nervous3.07712354
6MP0002063_abnormal_learning/memory/cond2.93592267
7MP0002064_seizures2.74117672
8MP0009745_abnormal_behavioral_response2.70762545
9MP0004858_abnormal_nervous_system2.56240468
10MP0000778_abnormal_nervous_system2.48290260
11MP0001968_abnormal_touch/_nociception2.40772248
12MP0009046_muscle_twitch2.33391976
13MP0002734_abnormal_mechanical_nocicepti2.33325138
14MP0002572_abnormal_emotion/affect_behav2.22072208
15MP0001486_abnormal_startle_reflex2.21678221
16MP0000569_abnormal_digit_pigmentation2.18551727
17MP0008569_lethality_at_weaning2.07272983
18MP0002272_abnormal_nervous_system2.04776500
19MP0004811_abnormal_neuron_physiology2.01935463
20MP0004885_abnormal_endolymph2.00770086
21MP0003329_amyloid_beta_deposits1.99716807
22MP0002733_abnormal_thermal_nociception1.95234042
23MP0009780_abnormal_chondrocyte_physiolo1.89686865
24MP0001970_abnormal_pain_threshold1.82439970
25MP0000955_abnormal_spinal_cord1.80499253
26MP0002184_abnormal_innervation1.74731677
27MP0001440_abnormal_grooming_behavior1.73547034
28MP0000920_abnormal_myelination1.71754442
29MP0002067_abnormal_sensory_capabilities1.68379715
30MP0002736_abnormal_nociception_after1.68142505
31MP0002557_abnormal_social/conspecific_i1.64386210
32MP0002735_abnormal_chemical_nociception1.63378608
33MP0002882_abnormal_neuron_morphology1.55772243
34MP0002822_catalepsy1.46818873
35MP0003633_abnormal_nervous_system1.46377168
36MP0000751_myopathy1.46322147
37MP0003634_abnormal_glial_cell1.44131062
38MP0005386_behavior/neurological_phenoty1.43693087
39MP0004924_abnormal_behavior1.43693087
40MP0005623_abnormal_meninges_morphology1.41118068
41MP0002066_abnormal_motor_capabilities/c1.37007844
42MP0002909_abnormal_adrenal_gland1.36305530
43MP0001501_abnormal_sleep_pattern1.36188858
44MP0002152_abnormal_brain_morphology1.34896889
45MP0003690_abnormal_glial_cell1.33793379
46MP0003303_peritoneal_inflammation1.29541315
47MP0003787_abnormal_imprinting1.28377141
48MP0008961_abnormal_basal_metabolism1.27595509
49MP0003631_nervous_system_phenotype1.26270526
50MP0003121_genomic_imprinting1.22253845
51MP0002638_abnormal_pupillary_reflex1.16841966
52MP0004145_abnormal_muscle_electrophysio1.16389928
53MP0003172_abnormal_lysosome_physiology1.08476230
54MP0001299_abnormal_eye_distance/1.06797760
55MP0003938_abnormal_ear_development1.06743379
56MP0004742_abnormal_vestibular_system1.05816904
57MP0002653_abnormal_ependyma_morphology1.05547753
58MP0000026_abnormal_inner_ear1.04238169
59MP0003632_abnormal_nervous_system1.01698707
60MP0004510_myositis1.00614054
61MP0001485_abnormal_pinna_reflex0.99397710
62MP0003122_maternal_imprinting0.99236559
63MP0003861_abnormal_nervous_system0.99088780
64MP0000747_muscle_weakness0.99022261
65MP0005646_abnormal_pituitary_gland0.99018767
66MP0003879_abnormal_hair_cell0.97870851
67MP0004130_abnormal_muscle_cell0.97411330
68MP0005187_abnormal_penis_morphology0.96613512
69MP0003123_paternal_imprinting0.95097836
70MP0005167_abnormal_blood-brain_barrier0.94525835
71MP0001502_abnormal_circadian_rhythm0.93848269
72MP0002249_abnormal_larynx_morphology0.93738623
73MP0004142_abnormal_muscle_tone0.93605924
74MP0005394_taste/olfaction_phenotype0.93129093
75MP0005499_abnormal_olfactory_system0.93129093
76MP0005645_abnormal_hypothalamus_physiol0.92643339
77MP0002229_neurodegeneration0.91949313
78MP0003075_altered_response_to0.90582697
79MP0005409_darkened_coat_color0.90020477
80MP0006276_abnormal_autonomic_nervous0.87623655
81MP0004133_heterotaxia0.87052668
82MP0000604_amyloidosis0.84811658
83MP0001905_abnormal_dopamine_level0.84144971
84MP0001177_atelectasis0.81975657
85MP0001984_abnormal_olfaction0.81192146
86MP0004085_abnormal_heartbeat0.81061837
87MP0002089_abnormal_postnatal_growth/wei0.79480024
88MP0000631_abnormal_neuroendocrine_gland0.79300610
89MP0002752_abnormal_somatic_nervous0.78104263
90MP0004233_abnormal_muscle_weight0.78022279
91MP0001188_hyperpigmentation0.77837088
92MP0003137_abnormal_impulse_conducting0.77781267
93MP0002069_abnormal_eating/drinking_beha0.76529755
94MP0000049_abnormal_middle_ear0.74187767
95MP0001943_abnormal_respiration0.73383393
96MP0008874_decreased_physiological_sensi0.72357265
97MP0000749_muscle_degeneration0.72301273
98MP0000534_abnormal_ureter_morphology0.72264192
99MP0005551_abnormal_eye_electrophysiolog0.72236312
100MP0001348_abnormal_lacrimal_gland0.71326154
101MP0002090_abnormal_vision0.69906340
102MP0003283_abnormal_digestive_organ0.69682580
103MP0004484_altered_response_of0.67415073
104MP0000566_synostosis0.67233034
105MP0001849_ear_inflammation0.67001504
106MP0002082_postnatal_lethality0.64088997
107MP0001986_abnormal_taste_sensitivity0.63811837
108MP0003385_abnormal_body_wall0.63597494
109MP0001529_abnormal_vocalization0.62868824
110MP0010769_abnormal_survival0.62355200
111MP0001963_abnormal_hearing_physiology0.62201687
112MP0000733_abnormal_muscle_development0.61013317
113MP0001346_abnormal_lacrimal_gland0.58104466
114MP0002081_perinatal_lethality0.58075877
115MP0002102_abnormal_ear_morphology0.58031374
116MP0010768_mortality/aging0.57531045
117MP0008770_decreased_survivor_rate0.57352350
118MP0010770_preweaning_lethality0.56866957

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)4.88757369
2Supranuclear gaze palsy (HP:0000605)4.11369647
3Action tremor (HP:0002345)4.09368299
4Termporal pattern (HP:0011008)3.97388672
5Insidious onset (HP:0003587)3.97388672
6Focal motor seizures (HP:0011153)3.91510214
7Focal seizures (HP:0007359)3.75405853
8Ankle clonus (HP:0011448)3.73370313
9Visual hallucinations (HP:0002367)3.63192405
10Mutism (HP:0002300)3.51955738
11Insomnia (HP:0100785)3.23270873
12Polyphagia (HP:0002591)3.05002724
13Neurofibrillary tangles (HP:0002185)3.02865654
14Papilledema (HP:0001085)2.94761340
15Abnormality of the corticospinal tract (HP:0002492)2.94694518
16Progressive cerebellar ataxia (HP:0002073)2.91409884
17Cerebral inclusion bodies (HP:0100314)2.89321091
18Epileptic encephalopathy (HP:0200134)2.88841218
19Hyperacusis (HP:0010780)2.87051584
20Urinary urgency (HP:0000012)2.81460814
21Urinary bladder sphincter dysfunction (HP:0002839)2.80997573
22Megalencephaly (HP:0001355)2.80518690
23Depression (HP:0000716)2.77018724
24Scanning speech (HP:0002168)2.71045123
25Genetic anticipation (HP:0003743)2.65647936
26Poor eye contact (HP:0000817)2.58469952
27Spastic gait (HP:0002064)2.57829881
28Overriding aorta (HP:0002623)2.57005293
29Impaired vibration sensation in the lower limbs (HP:0002166)2.54224626
30Pointed chin (HP:0000307)2.54190670
31Broad-based gait (HP:0002136)2.50130885
32Postural instability (HP:0002172)2.48007130
33Apathy (HP:0000741)2.47439415
34Abnormal social behavior (HP:0012433)2.44396867
35Impaired social interactions (HP:0000735)2.44396867
36Sleep apnea (HP:0010535)2.42195727
37Turricephaly (HP:0000262)2.40751700
38Diplopia (HP:0000651)2.38314446
39Abnormality of binocular vision (HP:0011514)2.38314446
40Amyotrophic lateral sclerosis (HP:0007354)2.38010979
41Elfin facies (HP:0004428)2.36534436
42Dysmetria (HP:0001310)2.34479615
43Split foot (HP:0001839)2.34231025
44Fetal akinesia sequence (HP:0001989)2.34162230
45Hemiplegia (HP:0002301)2.33970665
46Akinesia (HP:0002304)2.33670765
47Macroorchidism (HP:0000053)2.33360862
48Obstructive sleep apnea (HP:0002870)2.32984958
49Truncal ataxia (HP:0002078)2.32099582
50Spastic tetraparesis (HP:0001285)2.31170601
51Excessive salivation (HP:0003781)2.30201939
52Drooling (HP:0002307)2.30201939
53Abnormal eating behavior (HP:0100738)2.29340290
54Lower limb muscle weakness (HP:0007340)2.29285569
55Epileptiform EEG discharges (HP:0011182)2.29078900
56Hemiparesis (HP:0001269)2.26973587
57Intention tremor (HP:0002080)2.26291431
58Inappropriate behavior (HP:0000719)2.24226076
59Peripheral hypomyelination (HP:0007182)2.20882698
60Onion bulb formation (HP:0003383)2.19470472
61Abnormality of the lower motor neuron (HP:0002366)2.18840572
62Diminished motivation (HP:0000745)2.18564689
63Neuronal loss in central nervous system (HP:0002529)2.16469088
64Generalized tonic-clonic seizures (HP:0002069)2.15190866
65Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.15138094
66Degeneration of the lateral corticospinal tracts (HP:0002314)2.15138094
67Rapidly progressive (HP:0003678)2.14539012
68EEG with generalized epileptiform discharges (HP:0011198)2.14482559
69Hypsarrhythmia (HP:0002521)2.14221655
70Febrile seizures (HP:0002373)2.13105377
71Vitreoretinal degeneration (HP:0000655)2.12542824
72Exercise-induced myalgia (HP:0003738)2.11920105
73Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.11785832
74Anxiety (HP:0000739)2.10975065
75Hypoplasia of the corpus callosum (HP:0002079)2.10711761
76Stereotypic behavior (HP:0000733)2.10030755
77Atonic seizures (HP:0010819)2.09216370
78Absence seizures (HP:0002121)2.09089417
79Dysdiadochokinesis (HP:0002075)2.06938949
80Lower limb amyotrophy (HP:0007210)2.06547679
81Torticollis (HP:0000473)2.06005571
82Ulnar claw (HP:0001178)2.05340123
83Decreased number of large peripheral myelinated nerve fibers (HP:0003387)2.05259798
84Limb dystonia (HP:0002451)2.03504373
85Alacrima (HP:0000522)2.01623236
86Hepatoblastoma (HP:0002884)2.00752872
87Amblyopia (HP:0000646)2.00326595
88Difficulty running (HP:0009046)1.99482180
89Myotonia (HP:0002486)1.97082672
90Hammertoe (HP:0001765)1.95818015
91Annular pancreas (HP:0001734)1.95529447
92Bowel incontinence (HP:0002607)1.94949446
93Morphological abnormality of the pyramidal tract (HP:0002062)1.94452174
94Hypoplasia of the brainstem (HP:0002365)1.93465396
95Aplasia/Hypoplasia of the brainstem (HP:0007362)1.93465396
96Postural tremor (HP:0002174)1.93137393
97Dialeptic seizures (HP:0011146)1.92768214
98Shallow orbits (HP:0000586)1.92586668
99Aqueductal stenosis (HP:0002410)1.89760012
100Lower limb asymmetry (HP:0100559)1.88960362
101Flat cornea (HP:0007720)1.88309002
102Renovascular hypertension (HP:0100817)1.88261117
103Abnormality of the left ventricular outflow tract (HP:0011103)1.88152184
104Subaortic stenosis (HP:0001682)1.88152184
105Abnormality of the foot musculature (HP:0001436)1.87804529
106Cortical dysplasia (HP:0002539)1.86597928
107Aplasia involving bones of the extremities (HP:0009825)1.86102367
108Aplasia involving bones of the upper limbs (HP:0009823)1.86102367
109Aplasia of the phalanges of the hand (HP:0009802)1.86102367
110Sacral dimple (HP:0000960)1.85504425
111Hyperventilation (HP:0002883)1.84871594
112Decreased motor nerve conduction velocity (HP:0003431)1.84172777
113Exercise-induced muscle cramps (HP:0003710)1.83260023
114Renal duplication (HP:0000075)1.82960877
115Ventricular fibrillation (HP:0001663)1.82579672
116Agitation (HP:0000713)1.82483226
117Abnormality of the aortic arch (HP:0012303)1.80816625
118Bundle branch block (HP:0011710)1.80685977
119Spastic tetraplegia (HP:0002510)1.80344855
120Buphthalmos (HP:0000557)1.80335430
121Foot dorsiflexor weakness (HP:0009027)1.80059781
122Trigonocephaly (HP:0000243)1.78719331
123Focal dystonia (HP:0004373)1.78650823
124Disinhibition (HP:0000734)1.78276236
125Segmental peripheral demyelination/remyelination (HP:0003481)1.76781086
126Progressive inability to walk (HP:0002505)1.76396583
127Decreased number of peripheral myelinated nerve fibers (HP:0003380)1.74687591
128Impaired smooth pursuit (HP:0007772)1.74150392
129Gaze-evoked nystagmus (HP:0000640)1.73854493
130Neoplasm of the heart (HP:0100544)1.71514251
131Bradykinesia (HP:0002067)1.70945525
132Dysmetric saccades (HP:0000641)1.70499824
133Clonus (HP:0002169)1.69474979
134Arnold-Chiari malformation (HP:0002308)1.67750062
135Arterial tortuosity (HP:0005116)1.65668561
136Absent speech (HP:0001344)1.65240739

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MARK14.49650745
2MAP3K93.76005513
3CASK3.51787471
4NTRK32.61839039
5PAK62.54732941
6EPHA42.32128278
7NTRK22.29577676
8MINK12.29363730
9PRKD32.23161729
10MAP3K42.20076627
11KSR22.15165236
12SIK21.96713340
13CAMKK11.93721931
14DAPK21.90033322
15TRIB31.85699438
16PHKG11.81937547
17PHKG21.81937547
18TYRO31.81485002
19NTRK11.67329084
20KSR11.60183165
21UHMK11.55974687
22CAMK1G1.53532183
23CDK51.45928413
24TAOK11.44690427
25LATS21.44364538
26EPHA31.38425781
27MAPK131.35295954
28RET1.32640280
29MARK21.29035903
30ICK1.28389084
31SGK21.27401210
32FES1.25843582
33PINK11.25556966
34EEF2K1.24328675
35RIPK11.23242955
36DMPK1.22170483
37ALK1.18283699
38CSNK1G21.13884629
39BCR1.11380763
40CAMK2B1.10663472
41DYRK1B1.10619506
42MAP2K41.08925189
43FGFR21.08051166
44CDK191.06872174
45MAP2K71.06097928
46LMTK21.05876750
47PKN21.05402838
48STK111.03578259
49PNCK0.95507569
50PRKCH0.95298381
51STK380.94820622
52OBSCN0.94049348
53EPHB20.93874828
54CDK150.92287748
55SGK2230.92173961
56SGK4940.92173961
57CDK180.89701943
58CDK140.88507620
59MAP3K20.86406120
60CAMK2G0.81969404
61CDK11A0.81840545
62MAP3K70.80748204
63CAMK1D0.79436838
64PAK30.76267563
65CAMK10.76146822
66CSNK1A1L0.75570626
67PDGFRA0.75324223
68EPHB10.75180024
69MAPKAPK50.74224775
70SCYL20.73908467
71RPS6KA20.72500676
72CSNK1G30.70441426
73RIPK40.70277340
74WNK10.70271491
75PKN10.69628125
76LIMK10.69588520
77NEK60.68655663
78DYRK20.67074715
79CAMKK20.66729952
80PDPK10.65505514
81SGK30.64749684
82PRKD10.64344429
83PLK20.63442059
84FYN0.62625513
85ROCK20.62165113
86PRKCG0.61102112
87GRK50.60685399
88PDK10.60350769
89DAPK10.59196174
90PRKCZ0.58926277
91TNIK0.57599060
92ERBB20.57192847
93SGK10.56349575
94PDGFRB0.54902815
95CAMK40.54865616
96CAMK2D0.53567349
97TNK20.53272812
98MAPK120.52596982
99PRPF4B0.52452803
100DYRK1A0.52205943
101CAMK2A0.50846363
102PTK2B0.50557802
103DDR20.50113400
104MAPK100.49430904
105BMX0.47891830
106RPS6KA30.46740991
107FGR0.46201740
108PRKAA10.45896163
109ROCK10.45640323
110PTK60.45328788
111RAF10.44903614
112CDC42BPA0.43404454
113CSNK1D0.42279480
114PRKG10.41676260
115BRD40.41658184
116MAP3K60.39302988
117ERBB30.38521655
118CSNK1G10.38456627
119MAPK80.36342912
120ARAF0.34733017
121WNK30.34179030
122GSK3B0.33807384
123MAPK40.33255061
124MAP3K110.32282227
125MAPK90.28888823
126RPS6KB10.28143210

Predicted pathways (KEGG)

RankGene SetZ-score
1Synaptic vesicle cycle_Homo sapiens_hsa047212.26889521
2Nicotine addiction_Homo sapiens_hsa050332.11877542
3Circadian entrainment_Homo sapiens_hsa047132.09901133
4Olfactory transduction_Homo sapiens_hsa047402.08805324
5Glutamatergic synapse_Homo sapiens_hsa047242.04467898
6GABAergic synapse_Homo sapiens_hsa047271.99339393
7Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.98420157
8Long-term potentiation_Homo sapiens_hsa047201.93539504
9Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.83862732
10Morphine addiction_Homo sapiens_hsa050321.82334934
11Dopaminergic synapse_Homo sapiens_hsa047281.74718131
12Cholinergic synapse_Homo sapiens_hsa047251.71000459
13Gastric acid secretion_Homo sapiens_hsa049711.70576975
14Salivary secretion_Homo sapiens_hsa049701.67444983
15Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.65182570
16Axon guidance_Homo sapiens_hsa043601.59317141
17Amphetamine addiction_Homo sapiens_hsa050311.58885675
18Aldosterone synthesis and secretion_Homo sapiens_hsa049251.52317070
19Oxytocin signaling pathway_Homo sapiens_hsa049211.50582973
20Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.50355460
21Glioma_Homo sapiens_hsa052141.50250927
22Gap junction_Homo sapiens_hsa045401.47357385
23Long-term depression_Homo sapiens_hsa047301.46063641
24GnRH signaling pathway_Homo sapiens_hsa049121.43685741
25Cocaine addiction_Homo sapiens_hsa050301.41781341
26Renin secretion_Homo sapiens_hsa049241.38116625
27Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.37379043
28Estrogen signaling pathway_Homo sapiens_hsa049151.35135440
29Insulin secretion_Homo sapiens_hsa049111.33936654
30ErbB signaling pathway_Homo sapiens_hsa040121.25966758
31Dorso-ventral axis formation_Homo sapiens_hsa043201.23418958
32Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.20818103
33Type II diabetes mellitus_Homo sapiens_hsa049301.17718325
34Serotonergic synapse_Homo sapiens_hsa047261.17170667
35Phospholipase D signaling pathway_Homo sapiens_hsa040721.16880709
36Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.16699606
37Renal cell carcinoma_Homo sapiens_hsa052111.15634194
38Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.15429890
39Endometrial cancer_Homo sapiens_hsa052131.15134067
40Neurotrophin signaling pathway_Homo sapiens_hsa047221.15101916
41cAMP signaling pathway_Homo sapiens_hsa040241.13166299
42VEGF signaling pathway_Homo sapiens_hsa043701.11054655
43Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.06966378
44Phosphatidylinositol signaling system_Homo sapiens_hsa040701.06795667
45Colorectal cancer_Homo sapiens_hsa052101.06720195
46Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.06411048
47Dilated cardiomyopathy_Homo sapiens_hsa054141.05608988
48Calcium signaling pathway_Homo sapiens_hsa040201.05502791
49Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050141.04901283
50Melanogenesis_Homo sapiens_hsa049161.04473679
51Notch signaling pathway_Homo sapiens_hsa043301.03851203
52Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.02782772
53Non-small cell lung cancer_Homo sapiens_hsa052231.01943514
54Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.00426583
55cGMP-PKG signaling pathway_Homo sapiens_hsa040220.99990374
56Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.97641972
57Histidine metabolism_Homo sapiens_hsa003400.97361912
58Nitrogen metabolism_Homo sapiens_hsa009100.96855374
59Taste transduction_Homo sapiens_hsa047420.96606245
60Choline metabolism in cancer_Homo sapiens_hsa052310.96276137
61Thyroid hormone signaling pathway_Homo sapiens_hsa049190.93154065
62mTOR signaling pathway_Homo sapiens_hsa041500.91849623
63* Endocytosis_Homo sapiens_hsa041440.91705519
64Sphingolipid signaling pathway_Homo sapiens_hsa040710.90441820
65MAPK signaling pathway_Homo sapiens_hsa040100.90291770
66Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.90053109
67Rap1 signaling pathway_Homo sapiens_hsa040150.85712371
68Chronic myeloid leukemia_Homo sapiens_hsa052200.84111056
69Bile secretion_Homo sapiens_hsa049760.83810940
70Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.79578771
71Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.78382209
72Oocyte meiosis_Homo sapiens_hsa041140.78157138
73Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.77743264
74Ras signaling pathway_Homo sapiens_hsa040140.76096470
75Vascular smooth muscle contraction_Homo sapiens_hsa042700.75837746
76Carbohydrate digestion and absorption_Homo sapiens_hsa049730.75799819
77Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.74630048
78AMPK signaling pathway_Homo sapiens_hsa041520.74514351
79Circadian rhythm_Homo sapiens_hsa047100.74244276
80Platelet activation_Homo sapiens_hsa046110.73947237
81Pancreatic cancer_Homo sapiens_hsa052120.73144985
82Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.72889824
83Regulation of actin cytoskeleton_Homo sapiens_hsa048100.69788258
84beta-Alanine metabolism_Homo sapiens_hsa004100.69705060
85Chemokine signaling pathway_Homo sapiens_hsa040620.69669965
86Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.69442102
87Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.68604672
88Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.67580935
89Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.66895875
90Longevity regulating pathway - mammal_Homo sapiens_hsa042110.65341626
91Wnt signaling pathway_Homo sapiens_hsa043100.64404608
92Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.63542334
93Basal cell carcinoma_Homo sapiens_hsa052170.63308278
94Insulin signaling pathway_Homo sapiens_hsa049100.62834752
95Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.62742566
96Pancreatic secretion_Homo sapiens_hsa049720.62536760
97Vibrio cholerae infection_Homo sapiens_hsa051100.62504510
98Arginine and proline metabolism_Homo sapiens_hsa003300.62077434
99Focal adhesion_Homo sapiens_hsa045100.60483756
100Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.58890924
101Thyroid hormone synthesis_Homo sapiens_hsa049180.58345995
102Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.55888879
103Proteoglycans in cancer_Homo sapiens_hsa052050.55376946
104Tight junction_Homo sapiens_hsa045300.54865690
105AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.54339363
106Alcoholism_Homo sapiens_hsa050340.52477116
107Prolactin signaling pathway_Homo sapiens_hsa049170.51946270
108Prion diseases_Homo sapiens_hsa050200.51906113
109Hippo signaling pathway_Homo sapiens_hsa043900.51039597
110Inositol phosphate metabolism_Homo sapiens_hsa005620.50987099
111Cardiac muscle contraction_Homo sapiens_hsa042600.50779015
112Glucagon signaling pathway_Homo sapiens_hsa049220.50538160
113Collecting duct acid secretion_Homo sapiens_hsa049660.50353111
114Phototransduction_Homo sapiens_hsa047440.49765926
115Hedgehog signaling pathway_Homo sapiens_hsa043400.47835351
116B cell receptor signaling pathway_Homo sapiens_hsa046620.47220436
117T cell receptor signaling pathway_Homo sapiens_hsa046600.45975628

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