RAB40B

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 has similarity to a yeast protein which suggests a role of the gene product in regulating secretory vesicles. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)5.52797867
2positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.49329402
3regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.39131923
4central nervous system myelination (GO:0022010)5.15290210
5axon ensheathment in central nervous system (GO:0032291)5.15290210
6vocalization behavior (GO:0071625)5.14240395
7synaptic vesicle exocytosis (GO:0016079)5.02602261
8regulation of glutamate receptor signaling pathway (GO:1900449)5.00929878
9protein localization to synapse (GO:0035418)4.91322988
10ionotropic glutamate receptor signaling pathway (GO:0035235)4.89969067
11locomotory exploration behavior (GO:0035641)4.80111312
12synaptic vesicle maturation (GO:0016188)4.79408912
13positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.59505609
14glutamate secretion (GO:0014047)4.57916582
15regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.57652997
16regulation of long-term neuronal synaptic plasticity (GO:0048169)4.57298315
17regulation of synaptic vesicle exocytosis (GO:2000300)4.54552575
18neuronal action potential propagation (GO:0019227)4.51104698
19glutamate receptor signaling pathway (GO:0007215)4.49782049
20synaptic vesicle docking involved in exocytosis (GO:0016081)4.49620922
21regulation of neuronal synaptic plasticity (GO:0048168)4.43388102
22neuron-neuron synaptic transmission (GO:0007270)4.30435971
23neurotransmitter-gated ion channel clustering (GO:0072578)4.27914625
24neuron cell-cell adhesion (GO:0007158)4.26593671
25synaptic transmission, glutamatergic (GO:0035249)4.22820310
26regulation of synaptic vesicle transport (GO:1902803)4.20112240
27regulation of synapse structural plasticity (GO:0051823)4.19162558
28regulation of excitatory postsynaptic membrane potential (GO:0060079)4.13886785
29exploration behavior (GO:0035640)4.12305104
30gamma-aminobutyric acid transport (GO:0015812)4.11817541
31positive regulation of synapse maturation (GO:0090129)4.08886808
32regulation of dendritic spine morphogenesis (GO:0061001)3.97217381
33long-term memory (GO:0007616)3.91554904
34long-term synaptic potentiation (GO:0060291)3.90461039
35regulation of synaptic plasticity (GO:0048167)3.89231745
36regulation of postsynaptic membrane potential (GO:0060078)3.83517292
37response to histamine (GO:0034776)3.82817308
38synaptic transmission, dopaminergic (GO:0001963)3.82812454
39neurotransmitter secretion (GO:0007269)3.76940104
40regulation of female receptivity (GO:0045924)3.75444055
41positive regulation of membrane potential (GO:0045838)3.74779257
42membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.74577428
43sodium ion export (GO:0071436)3.73928526
44gamma-aminobutyric acid signaling pathway (GO:0007214)3.72423342
45behavioral response to cocaine (GO:0048148)3.63234474
46positive regulation of neurotransmitter secretion (GO:0001956)3.62645761
47behavioral fear response (GO:0001662)3.61014442
48behavioral defense response (GO:0002209)3.61014442
49regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.58857874
50potassium ion import (GO:0010107)3.54700912
51neuromuscular synaptic transmission (GO:0007274)3.52607718
52regulation of synaptic transmission, glutamatergic (GO:0051966)3.51953912
53positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.51516950
54neuron recognition (GO:0008038)3.51475422
55long term synaptic depression (GO:0060292)3.50719585
56dendritic spine morphogenesis (GO:0060997)3.49981403
57adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)3.49952412
58regulation of dendritic spine development (GO:0060998)3.48912926
59regulation of glutamate secretion (GO:0014048)3.48775321
60membrane depolarization during action potential (GO:0086010)3.46479328
61G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.45437480
62female mating behavior (GO:0060180)3.43238629
63postsynaptic membrane organization (GO:0001941)3.38021348
64fear response (GO:0042596)3.35846633
65positive regulation of neurotransmitter transport (GO:0051590)3.35070989
66presynaptic membrane assembly (GO:0097105)3.34416849
67negative regulation of synaptic transmission, GABAergic (GO:0032229)3.33865142
68transmission of nerve impulse (GO:0019226)3.33650727
69negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.32791276
70response to amphetamine (GO:0001975)3.29699302
71positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.28450955
72detection of calcium ion (GO:0005513)3.28417863
73G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.26923762
74layer formation in cerebral cortex (GO:0021819)3.26533638
75regulation of vesicle fusion (GO:0031338)3.26330042
76synaptic vesicle endocytosis (GO:0048488)3.25957118
77dendritic spine organization (GO:0097061)3.25637172
78positive regulation of synaptic transmission, GABAergic (GO:0032230)3.25635680
79positive regulation of dendritic spine development (GO:0060999)3.21936126
80positive regulation of dendritic spine morphogenesis (GO:0061003)3.20783265
81learning (GO:0007612)3.17003548
82axonal fasciculation (GO:0007413)3.16960982
83membrane depolarization (GO:0051899)3.16551055
84striatum development (GO:0021756)3.15029916
85regulation of neurotransmitter secretion (GO:0046928)3.14792915
86cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.14252672
87cellular potassium ion homeostasis (GO:0030007)3.13236662
88potassium ion homeostasis (GO:0055075)3.12855489
89regulation of synapse maturation (GO:0090128)3.12319392
90activation of protein kinase A activity (GO:0034199)3.11754161
91presynaptic membrane organization (GO:0097090)3.09715560
92positive regulation of synaptic transmission (GO:0050806)3.06239622
93regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.05720457
94prepulse inhibition (GO:0060134)3.04722886
95neuromuscular process controlling balance (GO:0050885)3.04019329
96cerebellar granule cell differentiation (GO:0021707)3.03961061
97auditory behavior (GO:0031223)3.03593884
98neurotransmitter transport (GO:0006836)3.02487305
99L-amino acid import (GO:0043092)3.02226116
100behavioral response to nicotine (GO:0035095)3.01665425
101regulation of synaptic transmission (GO:0050804)3.00559724
102innervation (GO:0060384)2.99898148
103startle response (GO:0001964)2.99536630
104dopamine receptor signaling pathway (GO:0007212)2.98381137
105regulation of neurotransmitter transport (GO:0051588)2.97113839
106vesicle transport along microtubule (GO:0047496)2.95356509
107neuronal ion channel clustering (GO:0045161)2.94916096
108synaptic transmission (GO:0007268)2.94878517
109positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.94680626
110neurotransmitter uptake (GO:0001504)2.91100571
111regulation of voltage-gated calcium channel activity (GO:1901385)2.91041164
112positive regulation of vesicle fusion (GO:0031340)2.90845845
113negative regulation of amino acid transport (GO:0051956)2.89759135
114regulation of neurotransmitter levels (GO:0001505)2.88782548
115proline transport (GO:0015824)2.87513105
116establishment of mitochondrion localization (GO:0051654)2.86840584
117regulation of dopamine uptake involved in synaptic transmission (GO:0051584)2.85980933
118adult walking behavior (GO:0007628)2.84095873
119cellular sodium ion homeostasis (GO:0006883)2.82705357
120response to auditory stimulus (GO:0010996)2.74949562
121regulation of cell communication by electrical coupling (GO:0010649)2.73193579
122amino acid import (GO:0043090)2.70888740
123mechanosensory behavior (GO:0007638)2.70337437
124cell communication by electrical coupling (GO:0010644)2.69184999
125cell migration in hindbrain (GO:0021535)2.68655577
126negative regulation of cytosolic calcium ion concentration (GO:0051481)2.66300504
127positive regulation of potassium ion transmembrane transport (GO:1901381)2.65713572
128neuronal action potential (GO:0019228)2.64354650
129serotonin metabolic process (GO:0042428)2.63386653
130regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.62655841
131cerebellar Purkinje cell differentiation (GO:0021702)2.62217292
132primary amino compound metabolic process (GO:1901160)2.62189384
133regulation of calcium ion-dependent exocytosis (GO:0017158)2.60613271
134glycosphingolipid biosynthetic process (GO:0006688)2.58083145

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.06680302
2GBX2_23144817_ChIP-Seq_PC3_Human3.62814178
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.29290541
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.22209536
5JARID2_20064375_ChIP-Seq_MESCs_Mouse3.18902280
6SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.83822388
7* RARB_27405468_Chip-Seq_BRAIN_Mouse2.79221443
8JARID2_20075857_ChIP-Seq_MESCs_Mouse2.78450510
9RNF2_18974828_ChIP-Seq_MESCs_Mouse2.78219807
10EZH2_18974828_ChIP-Seq_MESCs_Mouse2.78219807
11EZH2_27304074_Chip-Seq_ESCs_Mouse2.68893215
12SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.65975522
13* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.59432285
14SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.59044899
15REST_21632747_ChIP-Seq_MESCs_Mouse2.56462454
16* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.55935909
17EED_16625203_ChIP-ChIP_MESCs_Mouse2.39363581
18* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.32261884
19* EZH2_27294783_Chip-Seq_ESCs_Mouse2.29662645
20RNF2_27304074_Chip-Seq_ESCs_Mouse2.20783753
21DROSHA_22980978_ChIP-Seq_HELA_Human2.15197588
22REST_18959480_ChIP-ChIP_MESCs_Mouse2.11974461
23IKZF1_21737484_ChIP-ChIP_HCT116_Human2.03201269
24MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.01875024
25CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.84435089
26CTBP1_25329375_ChIP-Seq_LNCAP_Human1.83239493
27CTBP2_25329375_ChIP-Seq_LNCAP_Human1.83044188
28AR_21572438_ChIP-Seq_LNCaP_Human1.82607706
29GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.76576947
30TAF15_26573619_Chip-Seq_HEK293_Human1.76282510
31RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.67482100
32SMAD4_21799915_ChIP-Seq_A2780_Human1.66295572
33TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.63903136
34ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.62939711
35ZFP57_27257070_Chip-Seq_ESCs_Mouse1.60168749
36ERG_21242973_ChIP-ChIP_JURKAT_Human1.54375063
37NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.54306336
38SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.52356138
39PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.50302003
40P300_19829295_ChIP-Seq_ESCs_Human1.49949937
41EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.47480672
42PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.39494463
43ZNF274_21170338_ChIP-Seq_K562_Hela1.38352283
44VDR_22108803_ChIP-Seq_LS180_Human1.38012588
45SMAD3_21741376_ChIP-Seq_EPCs_Human1.36965604
46SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.35058135
47NR3C1_23031785_ChIP-Seq_PC12_Mouse1.33010962
48CBX2_27304074_Chip-Seq_ESCs_Mouse1.31892956
49TOP2B_26459242_ChIP-Seq_MCF-7_Human1.30771981
50BMI1_23680149_ChIP-Seq_NPCS_Mouse1.29673194
51RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.29281067
52SOX2_21211035_ChIP-Seq_LN229_Gbm1.28523413
53AR_25329375_ChIP-Seq_VCAP_Human1.28386097
54RING1B_27294783_Chip-Seq_ESCs_Mouse1.27138898
55PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.22940579
56PIAS1_25552417_ChIP-Seq_VCAP_Human1.22028626
57DNAJC2_21179169_ChIP-ChIP_NT2_Human1.20896161
58GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.20766243
59POU3F2_20337985_ChIP-ChIP_501MEL_Human1.20431328
60OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.20319104
61E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.18960644
62FUS_26573619_Chip-Seq_HEK293_Human1.18877854
63RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.18101237
64SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.14592240
65STAT3_23295773_ChIP-Seq_U87_Human1.14253775
66TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.12607803
67P53_22127205_ChIP-Seq_FIBROBLAST_Human1.12483632
68CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.11974076
69ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.11787788
70RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.09992943
71AR_19668381_ChIP-Seq_PC3_Human1.08894518
72UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.08637669
73WT1_25993318_ChIP-Seq_PODOCYTE_Human1.08390144
74ZNF217_24962896_ChIP-Seq_MCF-7_Human1.06916531
75* RING1B_27294783_Chip-Seq_NPCs_Mouse1.05518747
76PRDM14_20953172_ChIP-Seq_ESCs_Human1.03929330
77CDX2_19796622_ChIP-Seq_MESCs_Mouse1.02763315
78TP53_18474530_ChIP-ChIP_U2OS_Human1.01924745
79RNF2_27304074_Chip-Seq_NSC_Mouse1.01920658
80* TCF4_23295773_ChIP-Seq_U87_Human1.01429405
81WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.99708984
82TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.97832626
83NR3C1_21868756_ChIP-Seq_MCF10A_Human0.97247854
84RUNX2_22187159_ChIP-Seq_PCA_Human0.97099978
85YAP1_20516196_ChIP-Seq_MESCs_Mouse0.96558062
86ARNT_22903824_ChIP-Seq_MCF-7_Human0.95677151
87IGF1R_20145208_ChIP-Seq_DFB_Human0.95234713
88AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.94806574
89OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.94644464
90RXR_22108803_ChIP-Seq_LS180_Human0.94621385
91MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.93872964
92JUN_21703547_ChIP-Seq_K562_Human0.93431430
93TP53_16413492_ChIP-PET_HCT116_Human0.92509175
94TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.92284839
95PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.91765237
96* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.91750369
97TP53_20018659_ChIP-ChIP_R1E_Mouse0.91316249
98BCAT_22108803_ChIP-Seq_LS180_Human0.90860437
99CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.90737098
100SMAD_19615063_ChIP-ChIP_OVARY_Human0.90534461
101TET1_21490601_ChIP-Seq_MESCs_Mouse0.88904266
102SMAD3_21741376_ChIP-Seq_HESCs_Human0.88265579
103SMAD3_21741376_ChIP-Seq_ESCs_Human0.88160149
104THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.87715578
105AHR_22903824_ChIP-Seq_MCF-7_Human0.86895325
106FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.85777050
107* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.85544728
108POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.85196489
109TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.85196489
110SMAD4_21741376_ChIP-Seq_EPCs_Human0.84910640
111MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.84400317
112TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.83675861
113VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.83487614
114NANOG_18555785_Chip-Seq_ESCs_Mouse0.83232149
115CTCF_27219007_Chip-Seq_Bcells_Human0.83084955
116CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.82453112
117LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.80433130
118OCT4_19829295_ChIP-Seq_ESCs_Human0.77870702
119ER_23166858_ChIP-Seq_MCF-7_Human0.75562189
120CBP_20019798_ChIP-Seq_JUKART_Human0.75273332

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.73330665
2MP0003880_abnormal_central_pattern5.29324465
3MP0003635_abnormal_synaptic_transmissio4.18438601
4MP0002822_catalepsy3.75349432
5MP0004270_analgesia3.69832790
6MP0009745_abnormal_behavioral_response3.59715334
7MP0002063_abnormal_learning/memory/cond3.48138382
8MP0002064_seizures3.04979035
9MP0002572_abnormal_emotion/affect_behav2.88051374
10MP0001968_abnormal_touch/_nociception2.76277033
11MP0009046_muscle_twitch2.59731977
12MP0002272_abnormal_nervous_system2.52830884
13MP0001501_abnormal_sleep_pattern2.50132607
14MP0001486_abnormal_startle_reflex2.32196157
15MP0002734_abnormal_mechanical_nocicepti2.25018385
16MP0002736_abnormal_nociception_after2.23119635
17MP0009780_abnormal_chondrocyte_physiolo2.13120301
18MP0001440_abnormal_grooming_behavior2.09957262
19MP0002909_abnormal_adrenal_gland1.99873764
20MP0003329_amyloid_beta_deposits1.97976617
21MP0005423_abnormal_somatic_nervous1.95096873
22MP0002735_abnormal_chemical_nociception1.91536512
23MP0002067_abnormal_sensory_capabilities1.81642197
24MP0002837_dystrophic_cardiac_calcinosis1.79851302
25MP0000751_myopathy1.74233307
26MP0001970_abnormal_pain_threshold1.68396612
27MP0003879_abnormal_hair_cell1.68105866
28MP0002733_abnormal_thermal_nociception1.68018506
29MP0001529_abnormal_vocalization1.66262052
30MP0002184_abnormal_innervation1.64044377
31MP0004924_abnormal_behavior1.63305450
32MP0005386_behavior/neurological_phenoty1.63305450
33MP0001188_hyperpigmentation1.61438160
34MP0004145_abnormal_muscle_electrophysio1.61422893
35MP0008569_lethality_at_weaning1.60714090
36MP0002557_abnormal_social/conspecific_i1.59785048
37MP0005646_abnormal_pituitary_gland1.59314506
38MP0001984_abnormal_olfaction1.58856240
39MP0004811_abnormal_neuron_physiology1.54902963
40MP0000778_abnormal_nervous_system1.53656485
41MP0001905_abnormal_dopamine_level1.42913629
42MP0006276_abnormal_autonomic_nervous1.41811295
43MP0000013_abnormal_adipose_tissue1.38165512
44MP0002066_abnormal_motor_capabilities/c1.33592690
45MP0000955_abnormal_spinal_cord1.29672788
46MP0001986_abnormal_taste_sensitivity1.27439768
47MP0004147_increased_porphyrin_level1.26885185
48MP0002638_abnormal_pupillary_reflex1.25308904
49MP0002882_abnormal_neuron_morphology1.23254657
50MP0004858_abnormal_nervous_system1.22772384
51MP0001502_abnormal_circadian_rhythm1.20940077
52MP0001485_abnormal_pinna_reflex1.18510517
53MP0003787_abnormal_imprinting1.14888186
54MP0003633_abnormal_nervous_system1.12133343
55MP0005645_abnormal_hypothalamus_physiol1.09854557
56MP0010234_abnormal_vibrissa_follicle1.09749521
57MP0003122_maternal_imprinting1.08052254
58MP0008877_abnormal_DNA_methylation1.07944264
59MP0004885_abnormal_endolymph1.07314908
60MP0010386_abnormal_urinary_bladder1.02074798
61MP0008874_decreased_physiological_sensi0.98818905
62MP0002653_abnormal_ependyma_morphology0.98261095
63MP0002069_abnormal_eating/drinking_beha0.98107484
64MP0003123_paternal_imprinting0.96170413
65MP0004215_abnormal_myocardial_fiber0.95433481
66MP0003631_nervous_system_phenotype0.94945152
67MP0003690_abnormal_glial_cell0.93836388
68MP0005535_abnormal_body_temperature0.92883816
69MP0004484_altered_response_of0.92829695
70MP0004085_abnormal_heartbeat0.91997603
71MP0002152_abnormal_brain_morphology0.91973765
72MP0005409_darkened_coat_color0.91078517
73MP0003075_altered_response_to0.90421800
74MP0008872_abnormal_physiological_respon0.87234056
75MP0002234_abnormal_pharynx_morphology0.86303632
76MP0004036_abnormal_muscle_relaxation0.84749366
77MP0004142_abnormal_muscle_tone0.83785552
78MP0000026_abnormal_inner_ear0.83342254
79MP0000747_muscle_weakness0.83304070
80MP0000749_muscle_degeneration0.83019360
81MP0003283_abnormal_digestive_organ0.82297069
82MP0001664_abnormal_digestion0.81800101
83MP0003646_muscle_fatigue0.81097699
84MP0000604_amyloidosis0.80413436
85MP0002876_abnormal_thyroid_physiology0.79753757
86MP0004133_heterotaxia0.78586374
87MP0004233_abnormal_muscle_weight0.78538111
88MP0005620_abnormal_muscle_contractility0.77638415
89MP0000569_abnormal_digit_pigmentation0.76282074
90MP0000566_synostosis0.76145931
91MP0001177_atelectasis0.74561347
92MP0002229_neurodegeneration0.74469131
93MP0005167_abnormal_blood-brain_barrier0.73450128
94MP0004130_abnormal_muscle_cell0.71827206
95MP0004742_abnormal_vestibular_system0.70986978
96MP0001963_abnormal_hearing_physiology0.68856406
97MP0000631_abnormal_neuroendocrine_gland0.68530924
98MP0005253_abnormal_eye_physiology0.66584807
99MP0002160_abnormal_reproductive_system0.65238808
100MP0005551_abnormal_eye_electrophysiolog0.64298795
101MP0001765_abnormal_ion_homeostasis0.64196023
102MP0005499_abnormal_olfactory_system0.63202162
103MP0005394_taste/olfaction_phenotype0.63202162
104MP0002752_abnormal_somatic_nervous0.62557014
105MP0004043_abnormal_pH_regulation0.62433405
106MP0004510_myositis0.61981966
107MP0002106_abnormal_muscle_physiology0.61897599
108MP0006292_abnormal_olfactory_placode0.60927242
109MP0000759_abnormal_skeletal_muscle0.60861735
110MP0003121_genomic_imprinting0.60846499
111MP0003137_abnormal_impulse_conducting0.60299042
112MP0006072_abnormal_retinal_apoptosis0.59334993
113MP0005187_abnormal_penis_morphology0.59083706
114MP0000920_abnormal_myelination0.59041680
115MP0002102_abnormal_ear_morphology0.58567550
116MP0003632_abnormal_nervous_system0.58172536
117MP0001346_abnormal_lacrimal_gland0.57166461
118MP0003634_abnormal_glial_cell0.54748389
119MP0002090_abnormal_vision0.54635890
120MP0005369_muscle_phenotype0.54050479

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)8.57186804
2Myokymia (HP:0002411)6.33763763
3Focal seizures (HP:0007359)5.71551100
4Atonic seizures (HP:0010819)5.16543537
5Epileptic encephalopathy (HP:0200134)5.10098190
6Visual hallucinations (HP:0002367)5.05650896
7Limb dystonia (HP:0002451)4.83603086
8Hyperventilation (HP:0002883)4.60709513
9Absence seizures (HP:0002121)4.54348649
10Febrile seizures (HP:0002373)4.42762830
11Dialeptic seizures (HP:0011146)4.24298023
12Generalized tonic-clonic seizures (HP:0002069)3.88579682
13Broad-based gait (HP:0002136)3.76595703
14Poor eye contact (HP:0000817)3.47738681
15Anxiety (HP:0000739)3.24576077
16Amblyopia (HP:0000646)3.18076635
17Depression (HP:0000716)3.10063929
18Progressive cerebellar ataxia (HP:0002073)3.06513420
19Degeneration of the lateral corticospinal tracts (HP:0002314)3.02539693
20Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)3.02539693
21Cerebral hypomyelination (HP:0006808)3.02024314
22Impaired social interactions (HP:0000735)3.01551610
23Abnormal social behavior (HP:0012433)3.01551610
24Impaired vibration sensation in the lower limbs (HP:0002166)2.93635066
25Cerebral inclusion bodies (HP:0100314)2.91796490
26Abnormality of the corticospinal tract (HP:0002492)2.89014268
27Gaze-evoked nystagmus (HP:0000640)2.88955334
28Truncal ataxia (HP:0002078)2.88934136
29Excessive salivation (HP:0003781)2.87437676
30Drooling (HP:0002307)2.87437676
31Supranuclear gaze palsy (HP:0000605)2.87055216
32Fetal akinesia sequence (HP:0001989)2.84147502
33Dysmetria (HP:0001310)2.82017935
34Action tremor (HP:0002345)2.79564955
35Exercise-induced myalgia (HP:0003738)2.72324311
36Dysdiadochokinesis (HP:0002075)2.71685491
37Torticollis (HP:0000473)2.67388635
38Akinesia (HP:0002304)2.66975272
39Ankle clonus (HP:0011448)2.66675506
40Abnormality of the lower motor neuron (HP:0002366)2.56011452
41Stereotypic behavior (HP:0000733)2.52943953
42Morphological abnormality of the pyramidal tract (HP:0002062)2.50880585
43Epileptiform EEG discharges (HP:0011182)2.50250894
44Focal dystonia (HP:0004373)2.49113563
45Delusions (HP:0000746)2.45046901
46Abnormal eating behavior (HP:0100738)2.44877485
47Neurofibrillary tangles (HP:0002185)2.43843693
48Thickened helices (HP:0000391)2.35250686
49Muscle hypertrophy of the lower extremities (HP:0008968)2.34119031
50Urinary bladder sphincter dysfunction (HP:0002839)2.30210337
51Absent speech (HP:0001344)2.29480514
52Inability to walk (HP:0002540)2.28513399
53Scanning speech (HP:0002168)2.26922268
54Annular pancreas (HP:0001734)2.26061257
55Craniofacial dystonia (HP:0012179)2.26016800
56EEG with generalized epileptiform discharges (HP:0011198)2.23761662
57Mutism (HP:0002300)2.20801739
58Progressive inability to walk (HP:0002505)2.20373167
59Hemiplegia (HP:0002301)2.17734542
60Bundle branch block (HP:0011710)2.16860943
61Calf muscle hypertrophy (HP:0008981)2.16614280
62Postural instability (HP:0002172)2.16268467
63Impaired smooth pursuit (HP:0007772)2.15981800
64Urinary urgency (HP:0000012)2.14284560
65Dysmetric saccades (HP:0000641)2.14106529
66Shoulder girdle muscle weakness (HP:0003547)2.12560969
67Bradykinesia (HP:0002067)2.11603418
68Myotonia (HP:0002486)2.11498516
69Generalized myoclonic seizures (HP:0002123)2.07668332
70CNS hypomyelination (HP:0003429)2.07576650
71Hemiparesis (HP:0001269)2.07453412
72Congenital stationary night blindness (HP:0007642)2.07263272
73Sleep apnea (HP:0010535)2.06965333
74Type II lissencephaly (HP:0007260)2.06401713
75Lower limb amyotrophy (HP:0007210)2.05742401
76Clonus (HP:0002169)2.02989319
77Hypsarrhythmia (HP:0002521)2.00981331
78Termporal pattern (HP:0011008)1.97992954
79Insidious onset (HP:0003587)1.97992954
80Medial flaring of the eyebrow (HP:0010747)1.97935619
81Resting tremor (HP:0002322)1.97134173
82Prolonged QT interval (HP:0001657)1.97110040
83Impaired vibratory sensation (HP:0002495)1.96167904
84Status epilepticus (HP:0002133)1.95862128
85Sudden death (HP:0001699)1.95401247
86Papilledema (HP:0001085)1.95301788
87Abnormality of the calf musculature (HP:0001430)1.93569360
88Rapidly progressive (HP:0003678)1.92610886
89Incomplete penetrance (HP:0003829)1.91757907
90Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.91171075
91Confusion (HP:0001289)1.89896392
92Ulnar claw (HP:0001178)1.89759360
93Abnormality of salivation (HP:0100755)1.89690245
94Megalencephaly (HP:0001355)1.88336191
95Blue irides (HP:0000635)1.86913935
96Protruding tongue (HP:0010808)1.86866985
97Abnormality of binocular vision (HP:0011514)1.86266402
98Diplopia (HP:0000651)1.86266402
99Spastic gait (HP:0002064)1.85468831
100Molar tooth sign on MRI (HP:0002419)1.84554989
101Abnormality of midbrain morphology (HP:0002418)1.84554989
102Abnormal EKG (HP:0003115)1.84406629
103Dyskinesia (HP:0100660)1.83659809
104Choreoathetosis (HP:0001266)1.82807980
105Psychosis (HP:0000709)1.82684635
106Pancreatic fibrosis (HP:0100732)1.82306254
107Spastic tetraplegia (HP:0002510)1.80738067
108Rigidity (HP:0002063)1.80728419
109Nephronophthisis (HP:0000090)1.80638695
110Gait imbalance (HP:0002141)1.80319331
111Diminished movement (HP:0002374)1.80136406
112Hypoventilation (HP:0002791)1.80018108
113True hermaphroditism (HP:0010459)1.79968161
114Unsteady gait (HP:0002317)1.79910001
115Deep palmar crease (HP:0006191)1.79644685
116Ankyloglossia (HP:0010296)1.78786486
117Intention tremor (HP:0002080)1.77089333
118Distal lower limb amyotrophy (HP:0008944)1.76966156
119Spastic tetraparesis (HP:0001285)1.76294768
120Ventricular fibrillation (HP:0001663)1.74070315
121Heart block (HP:0012722)1.73909282
122Lower limb muscle weakness (HP:0007340)1.73300484
123Abnormality of ocular smooth pursuit (HP:0000617)1.72923869
124Syncope (HP:0001279)1.71854856
125Pheochromocytoma (HP:0002666)1.71640500
126Gait ataxia (HP:0002066)1.70479202
127Pancreatic cysts (HP:0001737)1.69161269
128Genetic anticipation (HP:0003743)1.68702330
129Obstructive sleep apnea (HP:0002870)1.67928272
130Muscular hypotonia of the trunk (HP:0008936)1.67241434
131Increased variability in muscle fiber diameter (HP:0003557)1.67213566
132Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.66663302
133Polyphagia (HP:0002591)1.66010359
134Decreased central vision (HP:0007663)1.65797234
135Specific learning disability (HP:0001328)1.65201565
136Increased circulating renin level (HP:0000848)1.64769656
137Lower limb asymmetry (HP:0100559)1.64525434
138Muscle fiber inclusion bodies (HP:0100299)1.64217381

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA46.18079990
2NTRK34.48820708
3MAP3K93.58047261
4KSR22.82946830
5DAPK22.69063392
6RIPK42.65661703
7CASK2.60336279
8ARAF2.44020925
9MAP3K42.30400409
10KSR12.26138072
11MAP3K132.21145483
12MINK12.20697285
13MAP3K122.08728070
14MAP2K72.02931863
15MAP2K41.86073162
16PRPF4B1.81142040
17DAPK11.79812809
18PLK21.77136915
19PAK61.67175586
20MARK11.57333022
21RAF11.53633797
22CAMKK11.52282866
23NTRK11.49092906
24PRKD31.48186632
25NTRK21.42786792
26GRK51.41786059
27PTK2B1.41742556
28CDK191.41646850
29CDK51.41361089
30CAMKK21.37125423
31BMPR21.32907930
32FRK1.31999050
33TNIK1.23359996
34NME11.22086095
35STK391.15591583
36WNK41.15469903
37MAP3K21.14058225
38FES1.12413271
39CAMK2A1.07313217
40PKN11.04987418
41PRKCG1.02699124
42CSNK1G31.01991150
43SIK21.01520599
44GRK11.00948874
45CAMK2B1.00547542
46LIMK10.95880640
47MUSK0.94562921
48MAP3K10.92914919
49PNCK0.91585648
50MAPK130.91568129
51BRAF0.89307146
52ADRBK20.86155652
53TYRO30.85681613
54STK380.84331135
55MOS0.84014258
56CAMK10.82812890
57CDK140.82247994
58CDK180.80974809
59PHKG20.80800680
60PHKG10.80800680
61PINK10.80796216
62CCNB10.80360962
63CSNK1G10.79411013
64FGFR20.77400290
65CDK150.76229857
66OXSR10.74566858
67CSNK1A1L0.71533814
68MAP2K10.70488850
69SGK4940.69258755
70SGK2230.69258755
71MAP2K60.67954567
72CDK11A0.65712968
73PDPK10.65509546
74BCKDK0.65343047
75SGK10.64398162
76TAOK10.64238102
77DYRK20.63953353
78PDK10.62057635
79UHMK10.61513909
80FGR0.61387356
81DYRK1A0.60290609
82FER0.60019234
83PAK30.58466960
84PRKCH0.57495866
85PIK3CA0.56536805
86CAMK2D0.56087169
87MAP4K20.55774386
88RET0.54515491
89SIK30.53368635
90PRKG10.53136709
91BCR0.52965389
92MAP3K70.52947469
93SGK20.52800653
94BMPR1B0.52715284
95MAPK120.52267777
96CSNK1A10.51039565
97STK110.50086981
98LATS20.49369830
99DAPK30.48572511
100PRKCE0.48353789
101AKT30.48241130
102MARK20.46701331
103INSRR0.46507100
104PRKCA0.46207166
105MAP3K110.44448615
106CSNK1G20.44228357
107CAMK2G0.43095567
108CSNK1D0.42797088
109LMTK20.41755596
110ADRBK10.41101289
111TIE10.41008740
112MAPK150.40563221
113ROCK10.38133180
114TNK20.37210032
115CSNK1E0.34753968
116RPS6KA30.34723267
117SGK30.34707948
118DMPK0.34557847
119NEK60.34483875
120PRKCZ0.32953774
121MAPKAPK50.31729890
122ROCK20.31429133
123FYN0.31228015
124CAMK40.30838887
125WNK30.30775076
126MAPK100.30376357
127PRKACA0.30322488
128OBSCN0.30287973
129CAMK1G0.28767903

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.75134917
2Olfactory transduction_Homo sapiens_hsa047403.03731832
3Long-term potentiation_Homo sapiens_hsa047202.96427697
4Synaptic vesicle cycle_Homo sapiens_hsa047212.94962715
5Amphetamine addiction_Homo sapiens_hsa050312.79388072
6Circadian entrainment_Homo sapiens_hsa047132.77681834
7Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.75984566
8Morphine addiction_Homo sapiens_hsa050322.55466927
9GABAergic synapse_Homo sapiens_hsa047272.54985054
10Glutamatergic synapse_Homo sapiens_hsa047242.50760733
11Dopaminergic synapse_Homo sapiens_hsa047282.25296453
12Salivary secretion_Homo sapiens_hsa049702.19326546
13Renin secretion_Homo sapiens_hsa049241.96589422
14Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.95801470
15Insulin secretion_Homo sapiens_hsa049111.93336475
16Long-term depression_Homo sapiens_hsa047301.89233364
17Oxytocin signaling pathway_Homo sapiens_hsa049211.85334535
18Taste transduction_Homo sapiens_hsa047421.82530904
19Aldosterone synthesis and secretion_Homo sapiens_hsa049251.82495563
20Cholinergic synapse_Homo sapiens_hsa047251.81773525
21Calcium signaling pathway_Homo sapiens_hsa040201.81638500
22Gastric acid secretion_Homo sapiens_hsa049711.80992983
23Serotonergic synapse_Homo sapiens_hsa047261.80044798
24Cocaine addiction_Homo sapiens_hsa050301.79735134
25Collecting duct acid secretion_Homo sapiens_hsa049661.76166713
26Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.62176671
27GnRH signaling pathway_Homo sapiens_hsa049121.56605223
28Gap junction_Homo sapiens_hsa045401.38427165
29cAMP signaling pathway_Homo sapiens_hsa040241.34666430
30Histidine metabolism_Homo sapiens_hsa003401.31413768
31Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.27110776
32Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.23436710
33Arginine and proline metabolism_Homo sapiens_hsa003301.21685732
34Cardiac muscle contraction_Homo sapiens_hsa042601.20541406
35Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.20255365
36Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.19819963
37cGMP-PKG signaling pathway_Homo sapiens_hsa040221.19197167
38Glioma_Homo sapiens_hsa052141.15646753
39Vibrio cholerae infection_Homo sapiens_hsa051101.15484496
40Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.14569817
41Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.12308388
42Melanogenesis_Homo sapiens_hsa049161.11280907
43Nitrogen metabolism_Homo sapiens_hsa009101.10697898
44Vascular smooth muscle contraction_Homo sapiens_hsa042701.10500122
45Phosphatidylinositol signaling system_Homo sapiens_hsa040701.08545625
46Vitamin B6 metabolism_Homo sapiens_hsa007501.04897014
47Estrogen signaling pathway_Homo sapiens_hsa049151.03319096
48Butanoate metabolism_Homo sapiens_hsa006500.99378539
49beta-Alanine metabolism_Homo sapiens_hsa004100.97778904
50Axon guidance_Homo sapiens_hsa043600.97432581
51ErbB signaling pathway_Homo sapiens_hsa040120.92884044
52Bile secretion_Homo sapiens_hsa049760.92537530
53Type II diabetes mellitus_Homo sapiens_hsa049300.91066921
54Pancreatic secretion_Homo sapiens_hsa049720.88721270
55Phototransduction_Homo sapiens_hsa047440.88455468
56Dilated cardiomyopathy_Homo sapiens_hsa054140.84827741
57Alzheimers disease_Homo sapiens_hsa050100.84183554
58Oocyte meiosis_Homo sapiens_hsa041140.83494727
59Dorso-ventral axis formation_Homo sapiens_hsa043200.81455181
60Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.80475548
61Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.79439794
62Phospholipase D signaling pathway_Homo sapiens_hsa040720.77932272
63Glucagon signaling pathway_Homo sapiens_hsa049220.76770560
64VEGF signaling pathway_Homo sapiens_hsa043700.76748809
65Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.75073530
66Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.74036780
67Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.73539986
68Choline metabolism in cancer_Homo sapiens_hsa052310.72517499
69Oxidative phosphorylation_Homo sapiens_hsa001900.70976662
70Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.66755020
71Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.66510442
72Regulation of autophagy_Homo sapiens_hsa041400.64905503
73Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.64855473
74Arginine biosynthesis_Homo sapiens_hsa002200.64652603
75MAPK signaling pathway_Homo sapiens_hsa040100.64047656
76Circadian rhythm_Homo sapiens_hsa047100.63717858
77Thyroid hormone synthesis_Homo sapiens_hsa049180.63458334
78Mineral absorption_Homo sapiens_hsa049780.62828538
79Linoleic acid metabolism_Homo sapiens_hsa005910.62573197
80Sulfur relay system_Homo sapiens_hsa041220.60194323
81Ether lipid metabolism_Homo sapiens_hsa005650.59097032
82Parkinsons disease_Homo sapiens_hsa050120.56879106
83Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.55775668
84Ras signaling pathway_Homo sapiens_hsa040140.55605824
85Folate biosynthesis_Homo sapiens_hsa007900.53078231
86Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.52661243
87Rap1 signaling pathway_Homo sapiens_hsa040150.51981272
88Non-small cell lung cancer_Homo sapiens_hsa052230.51445498
89Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.51007406
90Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.50907050
91Neurotrophin signaling pathway_Homo sapiens_hsa047220.49937919
92Alcoholism_Homo sapiens_hsa050340.49435721
93Prion diseases_Homo sapiens_hsa050200.49101172
94Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.49098854
95Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.46591638
96alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.46054779
97Tryptophan metabolism_Homo sapiens_hsa003800.44801638
98Propanoate metabolism_Homo sapiens_hsa006400.44135923
99Fatty acid biosynthesis_Homo sapiens_hsa000610.43990739
100Sphingolipid signaling pathway_Homo sapiens_hsa040710.43909070
101Peroxisome_Homo sapiens_hsa041460.43157894
102ABC transporters_Homo sapiens_hsa020100.42695874
103Maturity onset diabetes of the young_Homo sapiens_hsa049500.41145041
104Inositol phosphate metabolism_Homo sapiens_hsa005620.40833388
105Insulin signaling pathway_Homo sapiens_hsa049100.40424756
106Wnt signaling pathway_Homo sapiens_hsa043100.38472724
1072-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.36166957
108African trypanosomiasis_Homo sapiens_hsa051430.36053394
109Thyroid hormone signaling pathway_Homo sapiens_hsa049190.36002001
110Renal cell carcinoma_Homo sapiens_hsa052110.35760707
111Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.35102687
112Carbohydrate digestion and absorption_Homo sapiens_hsa049730.35053564
113Longevity regulating pathway - mammal_Homo sapiens_hsa042110.34144360
114Type I diabetes mellitus_Homo sapiens_hsa049400.33921032
115Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.33413318
116Tight junction_Homo sapiens_hsa045300.33190222
117Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.32915392
118Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.31528993
119Ovarian steroidogenesis_Homo sapiens_hsa049130.30464636
120SNARE interactions in vesicular transport_Homo sapiens_hsa041300.29634308
121Huntingtons disease_Homo sapiens_hsa050160.28437646
122Endocytosis_Homo sapiens_hsa041440.27918959
123mTOR signaling pathway_Homo sapiens_hsa041500.27635245
124Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.25155528
125Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.24681381
126Rheumatoid arthritis_Homo sapiens_hsa053230.24455720
127Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.23544636
128Platelet activation_Homo sapiens_hsa046110.23174321
129Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.22470590
130Glycerophospholipid metabolism_Homo sapiens_hsa005640.22436779
131Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.21307295

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