AP3B2

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: Adaptor protein complex 3 (AP-3 complex) is a heterotrimeric protein complex involved in the formation of clathrin-coated synaptic vesicles. The protein encoded by this gene represents the beta subunit of the neuron-specific AP-3 complex and was first identified as the target antigen in human paraneoplastic neurologic disorders. The encoded subunit binds clathrin and is phosphorylated by a casein kinase-like protein, which mediates synaptic vesicle coat assembly. Defects in this gene are a cause of early-onset epileptic encephalopathy. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)5.65510245
2positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.41854745
3synaptic vesicle maturation (GO:0016188)5.14126233
4synaptic vesicle exocytosis (GO:0016079)5.12175589
5vocalization behavior (GO:0071625)4.97076038
6neuron cell-cell adhesion (GO:0007158)4.95448651
7regulation of synaptic vesicle exocytosis (GO:2000300)4.88971889
8locomotory exploration behavior (GO:0035641)4.79454206
9positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.76236013
10regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.70983499
11protein localization to synapse (GO:0035418)4.65081493
12glutamate secretion (GO:0014047)4.61938033
13ionotropic glutamate receptor signaling pathway (GO:0035235)4.34482976
14regulation of glutamate receptor signaling pathway (GO:1900449)4.34468597
15regulation of synaptic vesicle transport (GO:1902803)4.33257528
16neuronal action potential propagation (GO:0019227)4.12227736
17synaptic vesicle docking involved in exocytosis (GO:0016081)4.11328436
18neurotransmitter secretion (GO:0007269)4.10739174
19exploration behavior (GO:0035640)4.08727431
20layer formation in cerebral cortex (GO:0021819)4.06074628
21pyrimidine nucleobase catabolic process (GO:0006208)4.03280346
22neuron recognition (GO:0008038)3.97812259
23regulation of neuronal synaptic plasticity (GO:0048168)3.96561883
24glutamate receptor signaling pathway (GO:0007215)3.95659969
25synaptic transmission, glutamatergic (GO:0035249)3.94808723
26regulation of long-term neuronal synaptic plasticity (GO:0048169)3.87900121
27dendritic spine morphogenesis (GO:0060997)3.86064794
28neuron-neuron synaptic transmission (GO:0007270)3.79712994
29proline transport (GO:0015824)3.79458096
30regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.78948101
31axonal fasciculation (GO:0007413)3.69558274
32regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.60960964
33nucleobase catabolic process (GO:0046113)3.58840409
34neurotransmitter-gated ion channel clustering (GO:0072578)3.58160116
35regulation of synapse structural plasticity (GO:0051823)3.57927394
36synaptic vesicle endocytosis (GO:0048488)3.52761092
37gamma-aminobutyric acid transport (GO:0015812)3.50511915
38neurotransmitter transport (GO:0006836)3.48663253
39membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.48308432
40positive regulation of synapse maturation (GO:0090129)3.47166341
41long-term memory (GO:0007616)3.47161581
42startle response (GO:0001964)3.44018675
43transmission of nerve impulse (GO:0019226)3.42426437
44positive regulation of synaptic transmission, GABAergic (GO:0032230)3.42105018
45behavioral response to nicotine (GO:0035095)3.41442189
46neuromuscular synaptic transmission (GO:0007274)3.41184788
47regulation of excitatory postsynaptic membrane potential (GO:0060079)3.40827264
48regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.40415019
49serotonin metabolic process (GO:0042428)3.39318351
50positive regulation of membrane potential (GO:0045838)3.35534094
51postsynaptic membrane organization (GO:0001941)3.34184814
52gamma-aminobutyric acid signaling pathway (GO:0007214)3.34083184
53cerebellar Purkinje cell differentiation (GO:0021702)3.32275357
54regulation of postsynaptic membrane potential (GO:0060078)3.31559010
55regulation of vesicle fusion (GO:0031338)3.31274660
56regulation of neurotransmitter secretion (GO:0046928)3.31156197
57cerebellar granule cell differentiation (GO:0021707)3.28146172
58positive regulation of dendritic spine development (GO:0060999)3.26888398
59innervation (GO:0060384)3.26465091
60axon ensheathment in central nervous system (GO:0032291)3.25388907
61central nervous system myelination (GO:0022010)3.25388907
62cell migration in hindbrain (GO:0021535)3.25148187
63activation of protein kinase A activity (GO:0034199)3.25042925
64positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.23562946
65dendrite morphogenesis (GO:0048813)3.23144921
66cellular potassium ion homeostasis (GO:0030007)3.22510167
67regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.20402199
68synapse assembly (GO:0007416)3.18347384
69adult walking behavior (GO:0007628)3.18307941
70neuromuscular process controlling posture (GO:0050884)3.17573913
71regulation of synaptic plasticity (GO:0048167)3.17509000
72presynaptic membrane assembly (GO:0097105)3.17057349
73regulation of neurotransmitter levels (GO:0001505)3.14688148
74negative regulation of microtubule polymerization (GO:0031115)3.12153189
75mechanosensory behavior (GO:0007638)3.10305370
76primary amino compound metabolic process (GO:1901160)3.09559076
77long-term synaptic potentiation (GO:0060291)3.09235172
78regulation of voltage-gated calcium channel activity (GO:1901385)3.08899736
79detection of calcium ion (GO:0005513)3.07774775
80mating behavior (GO:0007617)3.07213280
81regulation of synaptic transmission, glutamatergic (GO:0051966)3.04942883
82G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.03871794
83regulation of neurotransmitter transport (GO:0051588)3.03300927
84presynaptic membrane organization (GO:0097090)3.03113121
85membrane depolarization during action potential (GO:0086010)3.03100759
86positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.02545262
87cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.02244420
88regulation of dendritic spine morphogenesis (GO:0061001)3.01827784
89establishment of mitochondrion localization (GO:0051654)3.01518569
90negative regulation of synaptic transmission, GABAergic (GO:0032229)3.01428479
91regulation of synapse maturation (GO:0090128)3.01133593
92behavioral fear response (GO:0001662)3.00458066
93vesicle transport along microtubule (GO:0047496)2.98094823
94regulation of dendritic spine development (GO:0060998)2.97418234
95cerebellar Purkinje cell layer development (GO:0021680)2.96441008
96neuromuscular process controlling balance (GO:0050885)2.96361144
97membrane hyperpolarization (GO:0060081)2.95183104
98neuronal ion channel clustering (GO:0045161)2.94690577
99glycosphingolipid biosynthetic process (GO:0006688)2.94673075
100cell communication by electrical coupling (GO:0010644)2.94632940
101organelle transport along microtubule (GO:0072384)2.94562100
102L-amino acid import (GO:0043092)2.94444659
103membrane depolarization (GO:0051899)2.94418678
104positive regulation of neurotransmitter secretion (GO:0001956)2.93423967
105negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.93297180
106response to pheromone (GO:0019236)2.93266911
107response to auditory stimulus (GO:0010996)2.90818154
108neuronal action potential (GO:0019228)2.90681850
109auditory behavior (GO:0031223)2.90670276
110positive regulation of neurotransmitter transport (GO:0051590)2.90474211
111dendritic spine organization (GO:0097061)2.89806588
112negative regulation of cytosolic calcium ion concentration (GO:0051481)2.89735861
113synaptic transmission (GO:0007268)2.88601093
114fear response (GO:0042596)2.88050676
115learning (GO:0007612)2.88010393
116calcium ion-dependent exocytosis (GO:0017156)2.87133447
117righting reflex (GO:0060013)2.86746098
118positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.86106683
119synapse organization (GO:0050808)2.86088507
120glycine transport (GO:0015816)2.85136992
121regulation of calcium ion-dependent exocytosis (GO:0017158)2.84525134
122central nervous system projection neuron axonogenesis (GO:0021952)2.84361792
123regulation of respiratory system process (GO:0044065)2.83906008
124intraspecies interaction between organisms (GO:0051703)2.83326954
125social behavior (GO:0035176)2.83326954
126positive regulation of dendritic spine morphogenesis (GO:0061003)2.82357560
127behavioral defense response (GO:0002209)2.81826941

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.25713852
2GBX2_23144817_ChIP-Seq_PC3_Human3.72693900
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.09292319
4JARID2_20064375_ChIP-Seq_MESCs_Mouse2.99337093
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.94771076
6* REST_21632747_ChIP-Seq_MESCs_Mouse2.91801708
7JARID2_20075857_ChIP-Seq_MESCs_Mouse2.62934989
8EZH2_27304074_Chip-Seq_ESCs_Mouse2.59336817
9RNF2_18974828_ChIP-Seq_MESCs_Mouse2.59327295
10EZH2_18974828_ChIP-Seq_MESCs_Mouse2.59327295
11SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.50999072
12* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.47681922
13SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.46756271
14SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.45950706
15MTF2_20144788_ChIP-Seq_MESCs_Mouse2.42504116
16RARB_27405468_Chip-Seq_BRAIN_Mouse2.37259326
17* REST_18959480_ChIP-ChIP_MESCs_Mouse2.37010850
18NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.31161257
19CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.28790897
20DROSHA_22980978_ChIP-Seq_HELA_Human2.26781620
21* EZH2_27294783_Chip-Seq_ESCs_Mouse2.25869286
22EED_16625203_ChIP-ChIP_MESCs_Mouse2.25545674
23SUZ12_27294783_Chip-Seq_ESCs_Mouse2.24525743
24RNF2_27304074_Chip-Seq_ESCs_Mouse2.14952889
25GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.96030933
26ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.93955212
27CTBP2_25329375_ChIP-Seq_LNCAP_Human1.90802331
28IKZF1_21737484_ChIP-ChIP_HCT116_Human1.83984743
29TAF15_26573619_Chip-Seq_HEK293_Human1.77382229
30CTBP1_25329375_ChIP-Seq_LNCAP_Human1.77195236
31IGF1R_20145208_ChIP-Seq_DFB_Human1.69205325
32AR_21572438_ChIP-Seq_LNCaP_Human1.67722975
33SMAD4_21799915_ChIP-Seq_A2780_Human1.66067757
34EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.65564230
35ZNF274_21170338_ChIP-Seq_K562_Hela1.63602654
36BMI1_23680149_ChIP-Seq_NPCS_Mouse1.62788481
37ZFP57_27257070_Chip-Seq_ESCs_Mouse1.57787724
38MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.57200605
39SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.54720914
40PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.53551903
41CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.50673260
42CBX2_27304074_Chip-Seq_ESCs_Mouse1.43300667
43P300_19829295_ChIP-Seq_ESCs_Human1.42993251
44NR3C1_23031785_ChIP-Seq_PC12_Mouse1.40047092
45ERG_21242973_ChIP-ChIP_JURKAT_Human1.39440456
46PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.37079840
47* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.32361928
48SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.31879733
49RNF2_27304074_Chip-Seq_NSC_Mouse1.31328091
50MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.31321995
51SOX2_21211035_ChIP-Seq_LN229_Gbm1.31228141
52SMAD3_21741376_ChIP-Seq_EPCs_Human1.30488880
53TOP2B_26459242_ChIP-Seq_MCF-7_Human1.30137528
54RING1B_27294783_Chip-Seq_ESCs_Mouse1.28431324
55RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.28268282
56TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.27404783
57OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.25789032
58STAT3_23295773_ChIP-Seq_U87_Human1.25524588
59AR_25329375_ChIP-Seq_VCAP_Human1.21596036
60POU3F2_20337985_ChIP-ChIP_501MEL_Human1.20307440
61IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.19692142
62CBP_20019798_ChIP-Seq_JUKART_Human1.19692142
63GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.18935663
64AR_19668381_ChIP-Seq_PC3_Human1.18431113
65SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.17522843
66FLI1_27457419_Chip-Seq_LIVER_Mouse1.17036127
67PIAS1_25552417_ChIP-Seq_VCAP_Human1.16558530
68VDR_22108803_ChIP-Seq_LS180_Human1.15252384
69RING1B_27294783_Chip-Seq_NPCs_Mouse1.13082226
70HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.12256963
71TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.12168949
72MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.11356374
73TCF4_23295773_ChIP-Seq_U87_Human1.10127475
74BCAT_22108803_ChIP-Seq_LS180_Human1.10036936
75TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.07700873
76FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.07658432
77ER_23166858_ChIP-Seq_MCF-7_Human1.07273170
78EWS_26573619_Chip-Seq_HEK293_Human1.06921873
79P53_22127205_ChIP-Seq_FIBROBLAST_Human1.06719907
80YAP1_20516196_ChIP-Seq_MESCs_Mouse1.06285085
81FLI1_21867929_ChIP-Seq_TH2_Mouse1.03980791
82RUNX2_22187159_ChIP-Seq_PCA_Human1.03585544
83WT1_25993318_ChIP-Seq_PODOCYTE_Human1.02305001
84LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.01474485
85MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.01397029
86AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.01028092
87CDX2_19796622_ChIP-Seq_MESCs_Mouse1.00431693
88KLF5_20875108_ChIP-Seq_MESCs_Mouse1.00242932
89DNAJC2_21179169_ChIP-ChIP_NT2_Human0.99806331
90SMAD3_21741376_ChIP-Seq_ESCs_Human0.98472858
91FUS_26573619_Chip-Seq_HEK293_Human0.97718810
92TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.97639869
93P53_22387025_ChIP-Seq_ESCs_Mouse0.96885549
94TCF4_22108803_ChIP-Seq_LS180_Human0.96336140
95ARNT_22903824_ChIP-Seq_MCF-7_Human0.95967519
96PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.95837461
97PCGF2_27294783_Chip-Seq_ESCs_Mouse0.95645415
98UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.95286754
99NR3C1_21868756_ChIP-Seq_MCF10A_Human0.95158061
100RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.94644408
101* ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.93965361
102TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.92829476
103POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.92829476
104ZNF217_24962896_ChIP-Seq_MCF-7_Human0.92711402
105OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.92585166
106AHR_22903824_ChIP-Seq_MCF-7_Human0.92386660
107CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.92082150
108JUN_21703547_ChIP-Seq_K562_Human0.91609879
109PRDM14_20953172_ChIP-Seq_ESCs_Human0.91408201
110ZFP281_18757296_ChIP-ChIP_E14_Mouse0.90977060
111SMAD4_21741376_ChIP-Seq_HESCs_Human0.89700703
112CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.89492295
113TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.89165846
114TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.88461509
115TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.87534845
116* CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.86499328
117NANOG_18555785_Chip-Seq_ESCs_Mouse0.86208659
118BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.85802501
119* KDM2B_26808549_Chip-Seq_K562_Human0.84687492

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.42787453
2MP0003880_abnormal_central_pattern4.54651832
3MP0004270_analgesia3.78033965
4MP0003635_abnormal_synaptic_transmissio3.76537870
5MP0002063_abnormal_learning/memory/cond3.06793379
6MP0009745_abnormal_behavioral_response3.06310619
7MP0001968_abnormal_touch/_nociception2.90529584
8MP0005423_abnormal_somatic_nervous2.84880510
9* MP0002064_seizures2.83225666
10MP0009046_muscle_twitch2.78017360
11MP0002734_abnormal_mechanical_nocicepti2.75620695
12MP0002572_abnormal_emotion/affect_behav2.65168995
13MP0002272_abnormal_nervous_system2.49656915
14MP0002735_abnormal_chemical_nociception2.47833377
15MP0001486_abnormal_startle_reflex2.35309913
16MP0002736_abnormal_nociception_after2.30463180
17MP0006276_abnormal_autonomic_nervous2.28507593
18MP0002733_abnormal_thermal_nociception2.24550044
19MP0002822_catalepsy2.22750969
20MP0001970_abnormal_pain_threshold2.08040118
21MP0000778_abnormal_nervous_system2.07603441
22MP0001440_abnormal_grooming_behavior2.04833388
23MP0002909_abnormal_adrenal_gland2.00081700
24MP0002184_abnormal_innervation1.99658183
25MP0009780_abnormal_chondrocyte_physiolo1.99118055
26MP0002067_abnormal_sensory_capabilities1.95574378
27MP0008877_abnormal_DNA_methylation1.94415982
28MP0001501_abnormal_sleep_pattern1.93996844
29MP0005645_abnormal_hypothalamus_physiol1.90435560
30MP0001984_abnormal_olfaction1.82379163
31MP0004858_abnormal_nervous_system1.79273802
32MP0002557_abnormal_social/conspecific_i1.78294276
33MP0005646_abnormal_pituitary_gland1.76540174
34MP0003329_amyloid_beta_deposits1.75829237
35MP0004811_abnormal_neuron_physiology1.73449340
36MP0005386_behavior/neurological_phenoty1.71353244
37MP0004924_abnormal_behavior1.71353244
38MP0000955_abnormal_spinal_cord1.71201224
39MP0003122_maternal_imprinting1.69980324
40MP0001529_abnormal_vocalization1.64643453
41MP0008569_lethality_at_weaning1.60230431
42MP0003787_abnormal_imprinting1.54452986
43MP0002882_abnormal_neuron_morphology1.52971546
44MP0004885_abnormal_endolymph1.45796302
45MP0010386_abnormal_urinary_bladder1.43585214
46MP0001502_abnormal_circadian_rhythm1.39159777
47MP0003879_abnormal_hair_cell1.38687076
48* MP0002066_abnormal_motor_capabilities/c1.38239482
49MP0001905_abnormal_dopamine_level1.35159776
50MP0004142_abnormal_muscle_tone1.33786675
51MP0002638_abnormal_pupillary_reflex1.28450561
52MP0001188_hyperpigmentation1.27236779
53MP0003283_abnormal_digestive_organ1.27060079
54MP0005551_abnormal_eye_electrophysiolog1.24177884
55MP0006072_abnormal_retinal_apoptosis1.22187130
56MP0002152_abnormal_brain_morphology1.15181291
57MP0002837_dystrophic_cardiac_calcinosis1.15150514
58MP0002102_abnormal_ear_morphology1.14360809
59MP0005394_taste/olfaction_phenotype1.14352200
60MP0005499_abnormal_olfactory_system1.14352200
61MP0000013_abnormal_adipose_tissue1.13296682
62MP0002229_neurodegeneration1.12734697
63MP0003123_paternal_imprinting1.08770958
64MP0000631_abnormal_neuroendocrine_gland1.08481111
65* MP0003633_abnormal_nervous_system1.08357550
66MP0004145_abnormal_muscle_electrophysio1.04691639
67MP0004742_abnormal_vestibular_system1.01368464
68MP0004147_increased_porphyrin_level0.98094172
69MP0002069_abnormal_eating/drinking_beha0.96721551
70MP0003634_abnormal_glial_cell0.96550031
71* MP0003631_nervous_system_phenotype0.96304660
72MP0002752_abnormal_somatic_nervous0.95376543
73MP0004043_abnormal_pH_regulation0.94209798
74MP0000751_myopathy0.90253485
75MP0001963_abnormal_hearing_physiology0.86903075
76MP0004133_heterotaxia0.84795808
77MP0002928_abnormal_bile_duct0.84544313
78MP0005535_abnormal_body_temperature0.81538874
79MP0001485_abnormal_pinna_reflex0.80345024
80MP0001986_abnormal_taste_sensitivity0.80234905
81MP0005253_abnormal_eye_physiology0.79947182
82MP0004085_abnormal_heartbeat0.79432936
83MP0008872_abnormal_physiological_respon0.79338452
84MP0003632_abnormal_nervous_system0.77440764
85MP0003195_calcinosis0.74210915
86MP0006292_abnormal_olfactory_placode0.73726088
87MP0002751_abnormal_autonomic_nervous0.73707881
88MP0003136_yellow_coat_color0.73399063
89MP0002876_abnormal_thyroid_physiology0.72000117
90MP0005379_endocrine/exocrine_gland_phen0.71647778
91MP0003861_abnormal_nervous_system0.68934898
92MP0003121_genomic_imprinting0.67185919
93MP0001177_atelectasis0.67143421
94MP0001299_abnormal_eye_distance/0.66093860
95MP0003137_abnormal_impulse_conducting0.64627154
96MP0000920_abnormal_myelination0.64544349
97MP0002653_abnormal_ependyma_morphology0.64264834
98MP0000604_amyloidosis0.63991488
99MP0003690_abnormal_glial_cell0.63319484
100MP0002234_abnormal_pharynx_morphology0.63292222
101MP0008789_abnormal_olfactory_epithelium0.63244441
102MP0004233_abnormal_muscle_weight0.61944098
103MP0001664_abnormal_digestion0.61725501
104MP0000026_abnormal_inner_ear0.61715339
105MP0002090_abnormal_vision0.61301109
106MP0000569_abnormal_digit_pigmentation0.60643709
107MP0003938_abnormal_ear_development0.60621528
108MP0005187_abnormal_penis_morphology0.60374727
109MP0008961_abnormal_basal_metabolism0.59924228
110MP0005084_abnormal_gallbladder_morpholo0.59672430
111MP0001943_abnormal_respiration0.59256811
112MP0003698_abnormal_male_reproductive0.55750549

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)6.46997570
2Myokymia (HP:0002411)5.89594059
3Visual hallucinations (HP:0002367)5.11231407
4Focal seizures (HP:0007359)5.08608840
5Epileptic encephalopathy (HP:0200134)4.31161533
6Atonic seizures (HP:0010819)4.30522288
7Progressive cerebellar ataxia (HP:0002073)4.05474608
8Febrile seizures (HP:0002373)4.04287986
9Absence seizures (HP:0002121)3.79675530
10Supranuclear gaze palsy (HP:0000605)3.73825302
11Action tremor (HP:0002345)3.53206765
12Dialeptic seizures (HP:0011146)3.51293491
13Generalized tonic-clonic seizures (HP:0002069)3.51009537
14Ankle clonus (HP:0011448)3.31332051
15Limb dystonia (HP:0002451)3.21749251
16Pheochromocytoma (HP:0002666)3.13044381
17Amblyopia (HP:0000646)3.12340852
18Broad-based gait (HP:0002136)3.02216456
19Hyperventilation (HP:0002883)3.00154754
20Depression (HP:0000716)2.99416342
21Truncal ataxia (HP:0002078)2.98672173
22Anxiety (HP:0000739)2.90896970
23Epileptiform EEG discharges (HP:0011182)2.79680909
24Agitation (HP:0000713)2.79416004
25Neurofibrillary tangles (HP:0002185)2.78060138
26Cerebral inclusion bodies (HP:0100314)2.76709414
27Impaired vibration sensation in the lower limbs (HP:0002166)2.76484006
28EEG with generalized epileptiform discharges (HP:0011198)2.74914052
29Neuroendocrine neoplasm (HP:0100634)2.71803218
30Poor eye contact (HP:0000817)2.71514389
31Drooling (HP:0002307)2.70019459
32Excessive salivation (HP:0003781)2.70019459
33Abnormal eating behavior (HP:0100738)2.69093526
34Dysdiadochokinesis (HP:0002075)2.69067939
35Gaze-evoked nystagmus (HP:0000640)2.65395653
36Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.65011494
37Dysmetria (HP:0001310)2.64630009
38Urinary bladder sphincter dysfunction (HP:0002839)2.64148110
39Hypsarrhythmia (HP:0002521)2.62472640
40Mutism (HP:0002300)2.62318040
41Hemiparesis (HP:0001269)2.60583063
42Status epilepticus (HP:0002133)2.59520248
43Spastic gait (HP:0002064)2.56169246
44Hemiplegia (HP:0002301)2.54374388
45Gait imbalance (HP:0002141)2.49117050
46Impaired social interactions (HP:0000735)2.45635508
47Abnormal social behavior (HP:0012433)2.45635508
48Abnormality of the corticospinal tract (HP:0002492)2.45541086
49Pancreatic fibrosis (HP:0100732)2.42489137
50Type II lissencephaly (HP:0007260)2.41478246
51Abnormality of the lower motor neuron (HP:0002366)2.38894717
52Failure to thrive in infancy (HP:0001531)2.37762106
53Polyphagia (HP:0002591)2.35777676
54Progressive inability to walk (HP:0002505)2.35584333
55Papilledema (HP:0001085)2.34949485
56Molar tooth sign on MRI (HP:0002419)2.34360727
57Abnormality of midbrain morphology (HP:0002418)2.34360727
58Genetic anticipation (HP:0003743)2.33713765
59Urinary urgency (HP:0000012)2.32492174
60Impaired smooth pursuit (HP:0007772)2.31353404
61Abnormality of binocular vision (HP:0011514)2.31161886
62Diplopia (HP:0000651)2.31161886
63Amyotrophic lateral sclerosis (HP:0007354)2.30533045
64True hermaphroditism (HP:0010459)2.30355446
65Pancreatic cysts (HP:0001737)2.30311486
66Insidious onset (HP:0003587)2.28568335
67Termporal pattern (HP:0011008)2.28568335
68Cerebral hypomyelination (HP:0006808)2.27077321
69Postural instability (HP:0002172)2.25320084
70Bradykinesia (HP:0002067)2.23279529
71Megalencephaly (HP:0001355)2.16496210
72Lissencephaly (HP:0001339)2.15121072
73Scanning speech (HP:0002168)2.14773877
74Lower limb muscle weakness (HP:0007340)2.12146907
75Absent speech (HP:0001344)2.11605459
76Nephronophthisis (HP:0000090)2.10313424
77Torticollis (HP:0000473)2.06628305
78Specific learning disability (HP:0001328)2.06421736
79Hypoventilation (HP:0002791)2.02021708
80Congenital primary aphakia (HP:0007707)2.00103129
81Focal dystonia (HP:0004373)1.99019526
82Morphological abnormality of the pyramidal tract (HP:0002062)1.98604411
83Pachygyria (HP:0001302)1.97759387
84Fetal akinesia sequence (HP:0001989)1.96903782
85Abnormality of ocular smooth pursuit (HP:0000617)1.96137760
86Hypoplasia of the brainstem (HP:0002365)1.95389904
87Aplasia/Hypoplasia of the brainstem (HP:0007362)1.95389904
88Psychosis (HP:0000709)1.94321786
89Stereotypic behavior (HP:0000733)1.94118616
90Abnormality of the labia minora (HP:0012880)1.93365938
91Intention tremor (HP:0002080)1.92733662
92Spastic tetraplegia (HP:0002510)1.92215221
93Medial flaring of the eyebrow (HP:0010747)1.92136999
94Insomnia (HP:0100785)1.89206255
95Abnormality of calcium-phosphate metabolism (HP:0100530)1.88906010
96Congenital stationary night blindness (HP:0007642)1.88400270
97Akinesia (HP:0002304)1.87517605
98Decreased central vision (HP:0007663)1.86839018
99Delusions (HP:0000746)1.86103002
100Generalized myoclonic seizures (HP:0002123)1.85948085
101Blue irides (HP:0000635)1.84923942
102Retinal dysplasia (HP:0007973)1.84423424
103Abnormality of salivation (HP:0100755)1.83627898
104Genital tract atresia (HP:0001827)1.83413457
105Gait ataxia (HP:0002066)1.82703222
106Clonus (HP:0002169)1.82511828
107Inability to walk (HP:0002540)1.82286883
108Cystic liver disease (HP:0006706)1.81472955
109Neoplasm of the peripheral nervous system (HP:0100007)1.80985597
110Intestinal atresia (HP:0011100)1.80458158
111Vaginal atresia (HP:0000148)1.80069378
112Prolonged QT interval (HP:0001657)1.80032647
113Ventricular fibrillation (HP:0001663)1.79855266
114Degeneration of the lateral corticospinal tracts (HP:0002314)1.78894856
115Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.78894856
116Nephrogenic diabetes insipidus (HP:0009806)1.78766357
117Protruding tongue (HP:0010808)1.78624188
118Impaired vibratory sensation (HP:0002495)1.78146992
119Menstrual irregularities (HP:0000858)1.77238684
120Craniofacial dystonia (HP:0012179)1.76002796
121Abnormality of the renal medulla (HP:0100957)1.75197658
122Postural tremor (HP:0002174)1.74932075
123Neuronal loss in central nervous system (HP:0002529)1.74338473
124Abnormal hair whorl (HP:0010721)1.74150830
125Spastic tetraparesis (HP:0001285)1.73394989
126Methylmalonic acidemia (HP:0002912)1.72538473
127CNS hypomyelination (HP:0003429)1.71751271
128Sleep apnea (HP:0010535)1.67257285
129Optic nerve hypoplasia (HP:0000609)1.67129346

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.48187332
2MARK13.96673065
3MAP3K93.46926941
4FRK3.33610257
5EPHA43.32747551
6MAP3K43.10773645
7MINK12.76409605
8MAP2K72.69380449
9CASK2.21054323
10NTRK22.11806502
11NTRK12.05534263
12PAK62.02733995
13PNCK2.00857581
14DAPK21.94851523
15MAP3K121.92223371
16MAP2K41.80411489
17KSR21.78071802
18PRKD31.77776790
19MAPK131.72373317
20GRK51.67291621
21UHMK11.61905206
22KSR11.53896897
23CDK51.53505671
24RIPK41.45698886
25PLK21.45429959
26TNIK1.37688690
27MAP3K21.36149084
28PHKG21.35131151
29PHKG11.35131151
30MAP4K21.34635945
31ARAF1.32693515
32CAMKK11.30521553
33DAPK11.28742860
34SIK21.27776167
35PRKCG1.26614057
36FGFR21.23167225
37BMPR1B1.21628140
38PRPF4B1.11961635
39GRK11.11021268
40SGK4941.07115948
41SGK2231.07115948
42CAMK2A1.05155361
43TRIM280.99048255
44CAMKK20.97580865
45CDK190.97147311
46DYRK1A0.96178484
47CAMK2B0.95284451
48PAK30.94712889
49CSNK1G20.94070607
50CDK180.92431622
51CDK140.90335792
52CDK150.89298369
53STK380.88922076
54CSNK1A1L0.86639574
55CSNK1G10.85272298
56WNK30.85099904
57TYRO30.84305192
58FES0.84240934
59NME10.83141329
60RET0.79950803
61STK390.79750504
62LATS20.77877611
63CDK11A0.77868406
64BCR0.76638079
65DYRK20.76635764
66SGK20.73955269
67BMPR20.72733684
68INSRR0.71552610
69PRKCH0.70774566
70MARK20.70088099
71STK110.69840408
72OXSR10.68664509
73CAMK40.68357451
74CDC42BPA0.68137066
75PRKCE0.67335257
76CAMK10.64524095
77WNK10.63386603
78CAMK2D0.62493107
79SGK10.61935292
80WNK40.60827094
81MAP3K10.59575154
82CAMK1D0.59477908
83MKNK20.58204652
84AKT30.57208028
85CAMK1G0.55514546
86MAP3K130.55391125
87PRKCZ0.54879822
88CSNK1G30.53416440
89LMTK20.53347121
90ACVR1B0.51372319
91SCYL20.51310560
92FER0.50949829
93CSNK1A10.50265894
94PTK2B0.50241433
95PINK10.49623923
96ERBB20.49210944
97LIMK10.49089863
98CAMK2G0.48787070
99TAOK10.48053824
100CSNK1D0.47975025
101RAF10.47697407
102SGK30.47308609
103PRKACA0.47107358
104ADRBK10.46591823
105SIK30.46436108
106ERBB30.45879380
107ZAK0.45389465
108GRK70.45180224
109FGR0.45089674
110MAPK100.44880639
111RPS6KA30.44662821
112PRKAA10.43538936
113BRAF0.43238289
114HIPK20.43081210
115ALK0.43014374
116RPS6KA20.42008539
117PRKCA0.41646546
118TNK20.41610913
119MAP2K60.40813607
120NEK60.40100712
121PRKG10.39372880
122MAP2K10.39151507
123PKN10.38375195
124TLK10.38369950
125ADRBK20.38101467
126* CSNK1E0.36058191
127PRKCB0.32399242
128PRKACB0.31509395

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.69401873
2Synaptic vesicle cycle_Homo sapiens_hsa047213.44461811
3GABAergic synapse_Homo sapiens_hsa047272.75184275
4Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.69662851
5Circadian entrainment_Homo sapiens_hsa047132.62831945
6Olfactory transduction_Homo sapiens_hsa047402.56705308
7Long-term potentiation_Homo sapiens_hsa047202.56443369
8Amphetamine addiction_Homo sapiens_hsa050312.50951944
9Glutamatergic synapse_Homo sapiens_hsa047242.50774037
10Morphine addiction_Homo sapiens_hsa050322.44822213
11Insulin secretion_Homo sapiens_hsa049112.32913023
12Dopaminergic synapse_Homo sapiens_hsa047282.30505633
13Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.28794495
14Taste transduction_Homo sapiens_hsa047422.08668248
15Cholinergic synapse_Homo sapiens_hsa047251.93536008
16Salivary secretion_Homo sapiens_hsa049701.93342873
17Cocaine addiction_Homo sapiens_hsa050301.88797177
18Serotonergic synapse_Homo sapiens_hsa047261.85515478
19Collecting duct acid secretion_Homo sapiens_hsa049661.83244697
20Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.77481738
21Long-term depression_Homo sapiens_hsa047301.71270489
22Aldosterone synthesis and secretion_Homo sapiens_hsa049251.69607377
23Gastric acid secretion_Homo sapiens_hsa049711.68000827
24Renin secretion_Homo sapiens_hsa049241.62074663
25Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.57051063
26Oxytocin signaling pathway_Homo sapiens_hsa049211.46673853
27Calcium signaling pathway_Homo sapiens_hsa040201.44251881
28Phototransduction_Homo sapiens_hsa047441.42116173
29Vibrio cholerae infection_Homo sapiens_hsa051101.40014848
30Butanoate metabolism_Homo sapiens_hsa006501.37546190
31Gap junction_Homo sapiens_hsa045401.36002151
32Type II diabetes mellitus_Homo sapiens_hsa049301.35104997
33GnRH signaling pathway_Homo sapiens_hsa049121.34965973
34Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.22755813
35Axon guidance_Homo sapiens_hsa043601.22137657
36Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.18548826
37Cardiac muscle contraction_Homo sapiens_hsa042601.17303848
38Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.16361302
39Estrogen signaling pathway_Homo sapiens_hsa049151.14614996
40cAMP signaling pathway_Homo sapiens_hsa040241.14105046
41Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.07238719
42Phosphatidylinositol signaling system_Homo sapiens_hsa040701.05559300
43Melanogenesis_Homo sapiens_hsa049161.00611531
44Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.98761678
45cGMP-PKG signaling pathway_Homo sapiens_hsa040220.95918537
46ErbB signaling pathway_Homo sapiens_hsa040120.95083539
47Glioma_Homo sapiens_hsa052140.93721986
48Alzheimers disease_Homo sapiens_hsa050100.91523301
49Oxidative phosphorylation_Homo sapiens_hsa001900.91267734
50Pancreatic secretion_Homo sapiens_hsa049720.90212020
51Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.87612138
52Vascular smooth muscle contraction_Homo sapiens_hsa042700.87250838
53Oocyte meiosis_Homo sapiens_hsa041140.85958567
54Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.85070818
55Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.80431431
56Dorso-ventral axis formation_Homo sapiens_hsa043200.79224544
57Thyroid hormone synthesis_Homo sapiens_hsa049180.78377146
58Type I diabetes mellitus_Homo sapiens_hsa049400.78191514
59Nitrogen metabolism_Homo sapiens_hsa009100.77170289
60Maturity onset diabetes of the young_Homo sapiens_hsa049500.73986194
61Parkinsons disease_Homo sapiens_hsa050120.71681900
62Alcoholism_Homo sapiens_hsa050340.71607578
63Ether lipid metabolism_Homo sapiens_hsa005650.71575231
64Carbohydrate digestion and absorption_Homo sapiens_hsa049730.71195449
65Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.70439045
66ABC transporters_Homo sapiens_hsa020100.68658131
67Phospholipase D signaling pathway_Homo sapiens_hsa040720.68018911
68Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.67677556
69Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.66622830
70Glucagon signaling pathway_Homo sapiens_hsa049220.64003783
71MAPK signaling pathway_Homo sapiens_hsa040100.63871847
72Choline metabolism in cancer_Homo sapiens_hsa052310.62440073
73Vitamin B6 metabolism_Homo sapiens_hsa007500.61338294
74Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.59002885
75Fatty acid biosynthesis_Homo sapiens_hsa000610.57476949
76Circadian rhythm_Homo sapiens_hsa047100.56916238
77Neurotrophin signaling pathway_Homo sapiens_hsa047220.56745875
78alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.56502888
79Linoleic acid metabolism_Homo sapiens_hsa005910.56474377
80Dilated cardiomyopathy_Homo sapiens_hsa054140.55546668
81Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.55141311
82Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.55009930
83Ras signaling pathway_Homo sapiens_hsa040140.54805922
84beta-Alanine metabolism_Homo sapiens_hsa004100.52058923
85Huntingtons disease_Homo sapiens_hsa050160.49396917
86Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.49262192
87Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.49251801
88SNARE interactions in vesicular transport_Homo sapiens_hsa041300.48806893
89Prion diseases_Homo sapiens_hsa050200.48728355
90Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.46960446
91Wnt signaling pathway_Homo sapiens_hsa043100.46530425
92Tryptophan metabolism_Homo sapiens_hsa003800.46310349
93VEGF signaling pathway_Homo sapiens_hsa043700.46145072
94Sphingolipid signaling pathway_Homo sapiens_hsa040710.45006819
95Inositol phosphate metabolism_Homo sapiens_hsa005620.43251308
96Thyroid hormone signaling pathway_Homo sapiens_hsa049190.43196184
97mTOR signaling pathway_Homo sapiens_hsa041500.42502624
98Insulin signaling pathway_Homo sapiens_hsa049100.41985270
99Endometrial cancer_Homo sapiens_hsa052130.41492939
100Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.41216223
101Rap1 signaling pathway_Homo sapiens_hsa040150.41098351
102Renal cell carcinoma_Homo sapiens_hsa052110.40843285
103Endocytosis_Homo sapiens_hsa041440.39746257
104Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.33796028
105Longevity regulating pathway - mammal_Homo sapiens_hsa042110.33098268
106Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.32774667
107Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.32725764
108Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.30874796
109Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.30840406
110Ovarian steroidogenesis_Homo sapiens_hsa049130.30434074
111Propanoate metabolism_Homo sapiens_hsa006400.29858709
112Regulation of autophagy_Homo sapiens_hsa041400.27753072
113Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.27522828
114Colorectal cancer_Homo sapiens_hsa052100.26449390
115Bile secretion_Homo sapiens_hsa049760.25998096
116Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.25568632
117Mineral absorption_Homo sapiens_hsa049780.25248382
118Hedgehog signaling pathway_Homo sapiens_hsa043400.24942578
119Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.24234028

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