ADCY2

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a member of the family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This enzyme is insensitive to Ca(2+)/calmodulin, and is stimulated by the G protein beta and gamma subunit complex. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.21979501
2synaptic vesicle maturation (GO:0016188)5.91053992
3locomotory exploration behavior (GO:0035641)5.81579131
4synaptic vesicle exocytosis (GO:0016079)5.65200483
5positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.64940283
6glutamate secretion (GO:0014047)5.45525670
7vocalization behavior (GO:0071625)5.43475644
8regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.25739079
9synaptic vesicle docking involved in exocytosis (GO:0016081)5.22230269
10positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.19103017
11regulation of glutamate receptor signaling pathway (GO:1900449)5.00593790
12regulation of synaptic vesicle exocytosis (GO:2000300)4.99742146
13protein localization to synapse (GO:0035418)4.93191521
14ionotropic glutamate receptor signaling pathway (GO:0035235)4.61735847
15neuronal action potential propagation (GO:0019227)4.60219890
16exploration behavior (GO:0035640)4.53910145
17regulation of synaptic vesicle transport (GO:1902803)4.48080578
18neurotransmitter-gated ion channel clustering (GO:0072578)4.46913938
19regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.44225659
20neurotransmitter secretion (GO:0007269)4.43435060
21cellular potassium ion homeostasis (GO:0030007)4.43363326
22regulation of neuronal synaptic plasticity (GO:0048168)4.41398093
23regulation of long-term neuronal synaptic plasticity (GO:0048169)4.29737564
24neuron cell-cell adhesion (GO:0007158)4.28470239
25layer formation in cerebral cortex (GO:0021819)4.27071449
26glutamate receptor signaling pathway (GO:0007215)4.23891546
27synaptic transmission, glutamatergic (GO:0035249)4.22520494
28presynaptic membrane organization (GO:0097090)4.20038950
29regulation of synapse structural plasticity (GO:0051823)4.13630154
30long-term memory (GO:0007616)4.13157473
31central nervous system myelination (GO:0022010)4.04981956
32axon ensheathment in central nervous system (GO:0032291)4.04981956
33membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.04922169
34sodium ion export (GO:0071436)3.98570872
35neuron-neuron synaptic transmission (GO:0007270)3.92365009
36proline transport (GO:0015824)3.90005043
37positive regulation of synapse maturation (GO:0090129)3.87061499
38dendritic spine morphogenesis (GO:0060997)3.78829460
39regulation of excitatory postsynaptic membrane potential (GO:0060079)3.76566600
40neuromuscular synaptic transmission (GO:0007274)3.74422971
41positive regulation of membrane potential (GO:0045838)3.73850284
42synaptic vesicle endocytosis (GO:0048488)3.70315707
43gamma-aminobutyric acid transport (GO:0015812)3.69156801
44regulation of dendritic spine morphogenesis (GO:0061001)3.61854195
45cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.61679923
46regulation of postsynaptic membrane potential (GO:0060078)3.60886800
47regulation of synaptic plasticity (GO:0048167)3.60672477
48neurotransmitter transport (GO:0006836)3.59776800
49long-term synaptic potentiation (GO:0060291)3.59093213
50behavioral response to nicotine (GO:0035095)3.54186708
51positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.48719678
52cell communication by electrical coupling (GO:0010644)3.48640879
53regulation of synaptic transmission, glutamatergic (GO:0051966)3.46923058
54gamma-aminobutyric acid signaling pathway (GO:0007214)3.45872677
55G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.45755360
56neuron recognition (GO:0008038)3.43817159
57neuronal ion channel clustering (GO:0045161)3.43255650
58regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.42725960
59regulation of neurotransmitter secretion (GO:0046928)3.41923721
60positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.40148698
61L-amino acid import (GO:0043092)3.39545442
62neurotransmitter uptake (GO:0001504)3.33018897
63regulation of neurotransmitter levels (GO:0001505)3.32931286
64positive regulation of synaptic transmission, GABAergic (GO:0032230)3.31559435
65negative regulation of cytosolic calcium ion concentration (GO:0051481)3.30108369
66postsynaptic membrane organization (GO:0001941)3.29135642
67axonal fasciculation (GO:0007413)3.28231242
68regulation of vesicle fusion (GO:0031338)3.28085165
69response to auditory stimulus (GO:0010996)3.27930304
70transmission of nerve impulse (GO:0019226)3.26771909
71neuromuscular process controlling balance (GO:0050885)3.22484350
72response to histamine (GO:0034776)3.21371282
73innervation (GO:0060384)3.21212522
74potassium ion import (GO:0010107)3.20179386
75negative regulation of synaptic transmission, GABAergic (GO:0032229)3.19370716
76regulation of neurotransmitter transport (GO:0051588)3.16959752
77cerebellar Purkinje cell differentiation (GO:0021702)3.14935464
78G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.14734383
79regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.13251522
80behavioral defense response (GO:0002209)3.13106445
81behavioral fear response (GO:0001662)3.13106445
82pyrimidine nucleobase catabolic process (GO:0006208)3.12454595
83auditory behavior (GO:0031223)3.10834546
84positive regulation of synaptic transmission (GO:0050806)3.10504925
85membrane depolarization during action potential (GO:0086010)3.10082651
86positive regulation of neurotransmitter transport (GO:0051590)3.08584069
87regulation of dendritic spine development (GO:0060998)3.08018220
88adult walking behavior (GO:0007628)3.07805501
89positive regulation of neurotransmitter secretion (GO:0001956)3.07707860
90membrane depolarization (GO:0051899)3.07226462
91neuromuscular process controlling posture (GO:0050884)3.06721100
92positive regulation of dendritic spine development (GO:0060999)3.06382706
93* activation of protein kinase A activity (GO:0034199)3.05582909
94C4-dicarboxylate transport (GO:0015740)3.05161368
95regulation of synaptic transmission (GO:0050804)3.03451340
96learning (GO:0007612)3.03159043
97regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.02579061
98positive regulation of dendritic spine morphogenesis (GO:0061003)3.01265020
99positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.99801686
100regulation of synapse maturation (GO:0090128)2.99352634
101* synaptic transmission (GO:0007268)2.96201981
102fear response (GO:0042596)2.96135746
103membrane hyperpolarization (GO:0060081)2.95547169
104dendrite morphogenesis (GO:0048813)2.95319519
105presynaptic membrane assembly (GO:0097105)2.94901157
106amino acid import (GO:0043090)2.94379987
107cellular sodium ion homeostasis (GO:0006883)2.92720511
108negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.90825534
109cerebellar granule cell differentiation (GO:0021707)2.89658332
110acidic amino acid transport (GO:0015800)2.89394741
111intraspecies interaction between organisms (GO:0051703)2.88659342
112social behavior (GO:0035176)2.88659342
113synapse assembly (GO:0007416)2.88483134
114regulation of voltage-gated calcium channel activity (GO:1901385)2.87095653
115regulation of membrane repolarization (GO:0060306)2.86881906
116potassium ion homeostasis (GO:0055075)2.86262231
117neurofilament cytoskeleton organization (GO:0060052)2.83440499
118positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)2.79245486
119sarcoplasmic reticulum calcium ion transport (GO:0070296)2.75611885
120regulation of cell communication by electrical coupling (GO:0010649)2.75590847
121serotonin metabolic process (GO:0042428)2.74650278
122startle response (GO:0001964)2.74358766
123regulation of neurotransmitter uptake (GO:0051580)2.73100799
124regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)2.73066981
125multicellular organismal signaling (GO:0035637)2.69904611
126L-glutamate transport (GO:0015813)2.69763395
127regulation of respiratory system process (GO:0044065)2.66118408
128retinal cone cell development (GO:0046549)2.65947997
129neuronal action potential (GO:0019228)2.64748363
130nucleobase catabolic process (GO:0046113)2.63394917
131cell differentiation in hindbrain (GO:0021533)2.62905362

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.03290398
2GBX2_23144817_ChIP-Seq_PC3_Human3.45602448
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.18711283
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.13733497
5JARID2_20064375_ChIP-Seq_MESCs_Mouse3.09880664
6EZH2_18974828_ChIP-Seq_MESCs_Mouse2.79834115
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.79834115
8JARID2_20075857_ChIP-Seq_MESCs_Mouse2.73221289
9* REST_21632747_ChIP-Seq_MESCs_Mouse2.68384801
10SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.67279832
11* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.63599469
12* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.58797367
13RARB_27405468_Chip-Seq_BRAIN_Mouse2.56954648
14* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.56129582
15SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.51396895
16EZH2_27304074_Chip-Seq_ESCs_Mouse2.51287482
17DROSHA_22980978_ChIP-Seq_HELA_Human2.50175170
18EED_16625203_ChIP-ChIP_MESCs_Mouse2.41119000
19SUZ12_27294783_Chip-Seq_ESCs_Mouse2.27168500
20RNF2_27304074_Chip-Seq_ESCs_Mouse2.25533577
21* EZH2_27294783_Chip-Seq_ESCs_Mouse2.21995443
22REST_18959480_ChIP-ChIP_MESCs_Mouse2.21095873
23AR_21572438_ChIP-Seq_LNCaP_Human2.18038692
24IKZF1_21737484_ChIP-ChIP_HCT116_Human2.10250501
25ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.01235613
26CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.86652468
27MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.85935927
28GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.81649368
29NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.77798803
30EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.77393943
31CTBP2_25329375_ChIP-Seq_LNCAP_Human1.74006909
32VDR_22108803_ChIP-Seq_LS180_Human1.73861183
33IGF1R_20145208_ChIP-Seq_DFB_Human1.73585809
34HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.66585179
35ERG_21242973_ChIP-ChIP_JURKAT_Human1.62007764
36* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.61914108
37* CTBP1_25329375_ChIP-Seq_LNCAP_Human1.60550203
38* SMAD4_21799915_ChIP-Seq_A2780_Human1.60064582
39TAF15_26573619_Chip-Seq_HEK293_Human1.45590556
40* TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.42799364
41* POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.42799364
42CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.41749113
43PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.41016471
44* RING1B_27294783_Chip-Seq_ESCs_Mouse1.37205690
45PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.34273693
46* RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.33032769
47ZNF274_21170338_ChIP-Seq_K562_Hela1.32767119
48ZFP57_27257070_Chip-Seq_ESCs_Mouse1.32200452
49* P300_19829295_ChIP-Seq_ESCs_Human1.30814877
50* SOX2_21211035_ChIP-Seq_LN229_Gbm1.30533182
51TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.29860101
52* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.28931752
53NR3C1_23031785_ChIP-Seq_PC12_Mouse1.28087039
54GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.27969791
55* AR_25329375_ChIP-Seq_VCAP_Human1.27280914
56SMAD_19615063_ChIP-ChIP_OVARY_Human1.26856126
57CBX2_27304074_Chip-Seq_ESCs_Mouse1.26548595
58DNAJC2_21179169_ChIP-ChIP_NT2_Human1.23483451
59RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.22661124
60* AR_19668381_ChIP-Seq_PC3_Human1.22562735
61* SMAD3_21741376_ChIP-Seq_EPCs_Human1.22401480
62FLI1_27457419_Chip-Seq_LIVER_Mouse1.22241820
63* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.19665063
64TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.16655883
65PIAS1_25552417_ChIP-Seq_VCAP_Human1.15153333
66* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.15015109
67TOP2B_26459242_ChIP-Seq_MCF-7_Human1.14869723
68CDX2_19796622_ChIP-Seq_MESCs_Mouse1.14523835
69STAT3_23295773_ChIP-Seq_U87_Human1.13728474
70P53_22127205_ChIP-Seq_FIBROBLAST_Human1.09958887
71RING1B_27294783_Chip-Seq_NPCs_Mouse1.09640293
72SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.09364104
73ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.08303151
74TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.08103182
75OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.07745742
76SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.07541023
77WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.07417317
78PCGF2_27294783_Chip-Seq_ESCs_Mouse1.06392267
79TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.05652077
80IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.05355863
81CBP_20019798_ChIP-Seq_JUKART_Human1.05355863
82TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.05237306
83KLF5_20875108_ChIP-Seq_MESCs_Mouse1.05199055
84ZNF217_24962896_ChIP-Seq_MCF-7_Human1.04670997
85ARNT_22903824_ChIP-Seq_MCF-7_Human1.04134700
86BMI1_23680149_ChIP-Seq_NPCS_Mouse1.03888987
87ZFP281_18757296_ChIP-ChIP_E14_Mouse1.02939722
88YAP1_20516196_ChIP-Seq_MESCs_Mouse1.02907284
89* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.02342258
90KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.02039883
91* TCF4_23295773_ChIP-Seq_U87_Human1.01986858
92KDM2B_26808549_Chip-Seq_K562_Human1.01417814
93MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.00342867
94LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.99916832
95NANOG_18555785_Chip-Seq_ESCs_Mouse0.99575529
96AHR_22903824_ChIP-Seq_MCF-7_Human0.97500287
97STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.97456790
98NR3C1_21868756_ChIP-Seq_MCF10A_Human0.97241219
99RNF2_27304074_Chip-Seq_NSC_Mouse0.97099567
100SALL1_21062744_ChIP-ChIP_HESCs_Human0.95843964
101AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.95268258
102KDM2B_26808549_Chip-Seq_REH_Human0.94711488
103TP53_16413492_ChIP-PET_HCT116_Human0.94489797
104FUS_26573619_Chip-Seq_HEK293_Human0.93581052
105RXR_22108803_ChIP-Seq_LS180_Human0.93316736
106EP300_21415370_ChIP-Seq_HL-1_Mouse0.92992002
107SMAD3_21741376_ChIP-Seq_ESCs_Human0.92834595
108PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.92551661
109* SMAD3_21741376_ChIP-Seq_HESCs_Human0.90439285
110RUNX2_22187159_ChIP-Seq_PCA_Human0.89872494
111PRDM14_20953172_ChIP-Seq_ESCs_Human0.89224885
112UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.89054351
113RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.87635913
114* SMAD4_21741376_ChIP-Seq_HESCs_Human0.87388352
115POU3F2_20337985_ChIP-ChIP_501MEL_Human0.86137739
116GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.85433096
117CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.85362577
118TP53_18474530_ChIP-ChIP_U2OS_Human0.84800318
119TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.84440034
120TP53_20018659_ChIP-ChIP_R1E_Mouse0.84337141
121VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.83998648
122* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.82109441

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.74286101
2MP0003880_abnormal_central_pattern4.71798684
3MP0003635_abnormal_synaptic_transmissio4.18696465
4MP0004270_analgesia3.74358124
5MP0009745_abnormal_behavioral_response3.39939904
6MP0002063_abnormal_learning/memory/cond3.35699446
7MP0002064_seizures3.17449479
8MP0009046_muscle_twitch2.99049972
9MP0001968_abnormal_touch/_nociception2.95482262
10MP0002572_abnormal_emotion/affect_behav2.80133870
11MP0005423_abnormal_somatic_nervous2.74007607
12MP0002734_abnormal_mechanical_nocicepti2.65435464
13MP0001486_abnormal_startle_reflex2.62270092
14MP0002272_abnormal_nervous_system2.56170862
15MP0002822_catalepsy2.52448367
16MP0002736_abnormal_nociception_after2.35128947
17MP0001501_abnormal_sleep_pattern2.31740643
18MP0009780_abnormal_chondrocyte_physiolo2.11236836
19MP0001440_abnormal_grooming_behavior2.05577487
20MP0002735_abnormal_chemical_nociception1.99743273
21MP0004858_abnormal_nervous_system1.99691705
22MP0002067_abnormal_sensory_capabilities1.91155644
23MP0008569_lethality_at_weaning1.90831102
24MP0001970_abnormal_pain_threshold1.85704912
25MP0003329_amyloid_beta_deposits1.84241924
26MP0003136_yellow_coat_color1.82669744
27MP0002733_abnormal_thermal_nociception1.81990677
28MP0005646_abnormal_pituitary_gland1.79552687
29MP0002184_abnormal_innervation1.68258312
30MP0002909_abnormal_adrenal_gland1.68152323
31MP0002557_abnormal_social/conspecific_i1.67256371
32MP0004811_abnormal_neuron_physiology1.67251866
33MP0003879_abnormal_hair_cell1.66088349
34MP0000778_abnormal_nervous_system1.62512187
35MP0008877_abnormal_DNA_methylation1.61698052
36MP0001984_abnormal_olfaction1.61067162
37MP0005386_behavior/neurological_phenoty1.58818620
38MP0004924_abnormal_behavior1.58818620
39MP0000751_myopathy1.58015735
40MP0000955_abnormal_spinal_cord1.50534593
41MP0001502_abnormal_circadian_rhythm1.50245355
42MP0006276_abnormal_autonomic_nervous1.44664614
43MP0004885_abnormal_endolymph1.44193483
44MP0002882_abnormal_neuron_morphology1.43885410
45MP0005551_abnormal_eye_electrophysiolog1.40024220
46MP0003787_abnormal_imprinting1.39730686
47MP0000749_muscle_degeneration1.39122956
48MP0002066_abnormal_motor_capabilities/c1.37996264
49MP0003633_abnormal_nervous_system1.35766990
50MP0004145_abnormal_muscle_electrophysio1.32078230
51MP0003122_maternal_imprinting1.31175104
52MP0002653_abnormal_ependyma_morphology1.28745057
53MP0005645_abnormal_hypothalamus_physiol1.25083163
54MP0003890_abnormal_embryonic-extraembry1.19524323
55MP0004142_abnormal_muscle_tone1.17662581
56MP0003631_nervous_system_phenotype1.13538491
57MP0003075_altered_response_to1.13395032
58MP0001905_abnormal_dopamine_level1.12395564
59MP0004233_abnormal_muscle_weight1.10703723
60MP0001529_abnormal_vocalization1.08443071
61MP0002152_abnormal_brain_morphology1.05970428
62MP0002090_abnormal_vision1.05629100
63MP0010386_abnormal_urinary_bladder1.04256358
64MP0004133_heterotaxia1.02925558
65MP0004043_abnormal_pH_regulation1.00912393
66MP0002229_neurodegeneration0.98246359
67MP0003121_genomic_imprinting0.98072518
68MP0002102_abnormal_ear_morphology0.95634683
69MP0003690_abnormal_glial_cell0.94304842
70MP0004036_abnormal_muscle_relaxation0.93518700
71MP0008872_abnormal_physiological_respon0.93385556
72MP0005377_hearing/vestibular/ear_phenot0.93369895
73MP0003878_abnormal_ear_physiology0.93369895
74MP0001986_abnormal_taste_sensitivity0.93291181
75MP0002069_abnormal_eating/drinking_beha0.91415602
76MP0004147_increased_porphyrin_level0.91260903
77MP0001177_atelectasis0.90432643
78MP0003634_abnormal_glial_cell0.90205016
79MP0003646_muscle_fatigue0.89020935
80MP0005394_taste/olfaction_phenotype0.88523974
81MP0005499_abnormal_olfactory_system0.88523974
82MP0000013_abnormal_adipose_tissue0.87451860
83MP0000026_abnormal_inner_ear0.83726957
84MP0003119_abnormal_digestive_system0.83690934
85MP0008874_decreased_physiological_sensi0.83211889
86MP0001963_abnormal_hearing_physiology0.82881140
87MP0002752_abnormal_somatic_nervous0.80678161
88MP0005623_abnormal_meninges_morphology0.80602382
89MP0005535_abnormal_body_temperature0.80030796
90MP0000604_amyloidosis0.79171738
91MP0004215_abnormal_myocardial_fiber0.78893730
92MP0003632_abnormal_nervous_system0.78721171
93MP0002837_dystrophic_cardiac_calcinosis0.78645123
94MP0003861_abnormal_nervous_system0.78359380
95MP0002106_abnormal_muscle_physiology0.77995778
96MP0004085_abnormal_heartbeat0.77800003
97MP0002638_abnormal_pupillary_reflex0.77396307
98MP0001188_hyperpigmentation0.76155144
99MP0000579_abnormal_nail_morphology0.74652636
100MP0006072_abnormal_retinal_apoptosis0.74393221
101MP0004484_altered_response_of0.73637325
102MP0000631_abnormal_neuroendocrine_gland0.73090564
103MP0008961_abnormal_basal_metabolism0.69382129
104MP0000920_abnormal_myelination0.64798557
105MP0005253_abnormal_eye_physiology0.64684863
106MP0004742_abnormal_vestibular_system0.64473676
107MP0004130_abnormal_muscle_cell0.62856490
108MP0001664_abnormal_digestion0.62854632
109MP0003137_abnormal_impulse_conducting0.62755383
110MP0000747_muscle_weakness0.61456688
111MP0004510_myositis0.61453801
112MP0005167_abnormal_blood-brain_barrier0.61119952
113MP0001299_abnormal_eye_distance/0.60299607
114MP0003283_abnormal_digestive_organ0.59902286
115MP0001485_abnormal_pinna_reflex0.58123843
116MP0001943_abnormal_respiration0.57558992
117MP0005620_abnormal_muscle_contractility0.57483724
118MP0000569_abnormal_digit_pigmentation0.57297007
119MP0003123_paternal_imprinting0.54236953

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.94849734
2Myokymia (HP:0002411)6.81252465
3Focal seizures (HP:0007359)5.61687446
4Visual hallucinations (HP:0002367)5.25318028
5Epileptic encephalopathy (HP:0200134)5.18765883
6Atonic seizures (HP:0010819)4.62201331
7Febrile seizures (HP:0002373)4.44834764
8Absence seizures (HP:0002121)4.31712844
9Progressive cerebellar ataxia (HP:0002073)4.17362738
10Generalized tonic-clonic seizures (HP:0002069)4.08438374
11Dialeptic seizures (HP:0011146)3.94904099
12Action tremor (HP:0002345)3.79718418
13Impaired vibration sensation in the lower limbs (HP:0002166)3.63669506
14Muscle fiber inclusion bodies (HP:0100299)3.57415420
15Supranuclear gaze palsy (HP:0000605)3.42121613
16Nemaline bodies (HP:0003798)3.41847661
17Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)3.38869040
18Broad-based gait (HP:0002136)3.35285388
19Ankle clonus (HP:0011448)3.32087549
20Depression (HP:0000716)3.24641120
21Dysdiadochokinesis (HP:0002075)3.24080039
22Hyperventilation (HP:0002883)3.18847002
23Exercise-induced muscle cramps (HP:0003710)3.14238227
24Poor eye contact (HP:0000817)3.10314838
25Gaze-evoked nystagmus (HP:0000640)3.09117045
26Urinary bladder sphincter dysfunction (HP:0002839)3.07444085
27Dysmetria (HP:0001310)3.03577669
28Postural instability (HP:0002172)2.99468014
29Truncal ataxia (HP:0002078)2.96226903
30Abnormal eating behavior (HP:0100738)2.93655407
31Anxiety (HP:0000739)2.90681147
32Hemiparesis (HP:0001269)2.87408278
33Abnormal social behavior (HP:0012433)2.86555544
34Impaired social interactions (HP:0000735)2.86555544
35Megalencephaly (HP:0001355)2.86010224
36Amblyopia (HP:0000646)2.82899243
37Abnormality of the lower motor neuron (HP:0002366)2.78972513
38Limb dystonia (HP:0002451)2.71689463
39Abnormality of binocular vision (HP:0011514)2.69297311
40Diplopia (HP:0000651)2.69297311
41Muscle hypertrophy of the lower extremities (HP:0008968)2.68091958
42Hemiplegia (HP:0002301)2.66430019
43Mutism (HP:0002300)2.66112950
44Neurofibrillary tangles (HP:0002185)2.63966111
45Cerebral inclusion bodies (HP:0100314)2.62600210
46Urinary urgency (HP:0000012)2.60535245
47Excessive salivation (HP:0003781)2.56808587
48Drooling (HP:0002307)2.56808587
49Calf muscle hypertrophy (HP:0008981)2.53433348
50Myotonia (HP:0002486)2.51496559
51Bradykinesia (HP:0002067)2.50896687
52Genetic anticipation (HP:0003743)2.50406385
53Epileptiform EEG discharges (HP:0011182)2.48463448
54Torticollis (HP:0000473)2.47981035
55Fetal akinesia sequence (HP:0001989)2.46809421
56Status epilepticus (HP:0002133)2.44345592
57Exercise-induced myalgia (HP:0003738)2.44107394
58Impaired vibratory sensation (HP:0002495)2.42841960
59Papilledema (HP:0001085)2.41766397
60Pancreatic fibrosis (HP:0100732)2.39849990
61Impaired smooth pursuit (HP:0007772)2.39791491
62Abnormality of the labia minora (HP:0012880)2.38353676
63EEG with generalized epileptiform discharges (HP:0011198)2.36707001
64Focal dystonia (HP:0004373)2.33627928
65Spastic gait (HP:0002064)2.30531244
66Abnormality of the corticospinal tract (HP:0002492)2.25467972
67Progressive inability to walk (HP:0002505)2.24680763
68Ventricular fibrillation (HP:0001663)2.23805692
69Scanning speech (HP:0002168)2.23450781
70Aplasia of the phalanges of the hand (HP:0009802)2.23314441
71Aplasia involving bones of the extremities (HP:0009825)2.23314441
72Aplasia involving bones of the upper limbs (HP:0009823)2.23314441
73Polyphagia (HP:0002591)2.22614017
74Intention tremor (HP:0002080)2.21123092
75Lower limb muscle weakness (HP:0007340)2.19629034
76Nephronophthisis (HP:0000090)2.17436544
77Hypsarrhythmia (HP:0002521)2.16983130
78Dysmetric saccades (HP:0000641)2.16714474
79Absent speech (HP:0001344)2.15614452
80Distal arthrogryposis (HP:0005684)2.15050288
81Stereotypic behavior (HP:0000733)2.14878619
82Type 1 muscle fiber predominance (HP:0003803)2.14312589
83Generalized myoclonic seizures (HP:0002123)2.12468011
84Abnormality of ocular smooth pursuit (HP:0000617)2.10066610
85True hermaphroditism (HP:0010459)2.07725312
86Congenital stationary night blindness (HP:0007642)2.04376282
87Craniofacial dystonia (HP:0012179)2.01272911
88Termporal pattern (HP:0011008)2.01265090
89Insidious onset (HP:0003587)2.01265090
90Degeneration of the lateral corticospinal tracts (HP:0002314)2.00420020
91Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.00420020
92Medial flaring of the eyebrow (HP:0010747)1.99731815
93Protruding tongue (HP:0010808)1.97993741
94Pancreatic cysts (HP:0001737)1.96449361
95Incomplete penetrance (HP:0003829)1.96184401
96Morphological abnormality of the pyramidal tract (HP:0002062)1.95500714
97Neuronal loss in central nervous system (HP:0002529)1.92434704
98Gait ataxia (HP:0002066)1.92023962
99Sleep apnea (HP:0010535)1.91825091
100Annular pancreas (HP:0001734)1.91480959
101Pheochromocytoma (HP:0002666)1.91312339
102Delusions (HP:0000746)1.91191139
103Inability to walk (HP:0002540)1.88446480
104Hypoventilation (HP:0002791)1.88301416
105Abnormal EKG (HP:0003115)1.86874699
106Gait imbalance (HP:0002141)1.86458434
107Insomnia (HP:0100785)1.86314279
108Rigidity (HP:0002063)1.85579478
109Rapidly progressive (HP:0003678)1.82392625
110Abnormal ciliary motility (HP:0012262)1.82188512
111Vaginal atresia (HP:0000148)1.80576784
112Genital tract atresia (HP:0001827)1.79811754
113Pointed chin (HP:0000307)1.79686827
114Hyporeflexia of lower limbs (HP:0002600)1.78805334
115Central scotoma (HP:0000603)1.78680699
116Abnormal drinking behavior (HP:0030082)1.78452966
117Polydipsia (HP:0001959)1.78452966
118Dynein arm defect of respiratory motile cilia (HP:0012255)1.76320474
119Absent/shortened dynein arms (HP:0200106)1.76320474
120Lower limb amyotrophy (HP:0007210)1.76213673
121Resting tremor (HP:0002322)1.75293362
122Specific learning disability (HP:0001328)1.75119880
123Clumsiness (HP:0002312)1.74332180
124Rimmed vacuoles (HP:0003805)1.74225401
125Hepatoblastoma (HP:0002884)1.74019251
126Bundle branch block (HP:0011710)1.73743924
127Hyperkalemia (HP:0002153)1.73528648
128Congenital primary aphakia (HP:0007707)1.72971501
129Agitation (HP:0000713)1.71260650
130Cutaneous finger syndactyly (HP:0010554)1.70972437
131Abnormality of the renal medulla (HP:0100957)1.69816930
132Type II lissencephaly (HP:0007260)1.69765361
133Blue irides (HP:0000635)1.69620718
134Clonus (HP:0002169)1.69590711
135Abnormality of saccadic eye movements (HP:0000570)1.69230739
136Psychosis (HP:0000709)1.68901214
137Difficulty running (HP:0009046)1.68728148
138Abnormality of salivation (HP:0100755)1.68326596
139Muscle fiber splitting (HP:0003555)1.68261971
140Neuroendocrine neoplasm (HP:0100634)1.67106949
141Calcaneovalgus deformity (HP:0001848)1.66851998
142Areflexia of lower limbs (HP:0002522)1.66796241
143Prolonged QT interval (HP:0001657)1.65688802
144Molar tooth sign on MRI (HP:0002419)1.65615728
145Abnormality of midbrain morphology (HP:0002418)1.65615728
146Frequent falls (HP:0002359)1.64796905
147Akinesia (HP:0002304)1.63445494

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA45.08128473
2NTRK34.34688754
3MAP3K93.59511613
4OBSCN3.25663875
5FRK3.01166068
6MAP3K42.99522322
7PRKD32.68191206
8DAPK22.65392520
9MINK12.61162022
10MAP2K72.46656826
11MARK12.42857329
12PAK62.38201205
13NTRK22.13712078
14KSR22.11675794
15MAP2K41.98710740
16MAP3K121.98115048
17CASK1.88426530
18CAMKK11.73871285
19RIPK41.72137894
20NTRK11.71031236
21PRPF4B1.65056330
22DAPK11.59011933
23STK381.56673838
24PLK21.52179127
25CDK51.50824127
26KSR11.49962542
27PHKG11.48632627
28PHKG21.48632627
29BMPR1B1.45347700
30TNIK1.45236457
31MAP3K131.42519592
32CDK191.42341609
33GRK51.41368669
34ARAF1.33345429
35DYRK21.28874591
36MAPK131.26259644
37PRKCG1.20660344
38LMTK21.11006797
39MKNK21.10882368
40SIK21.09024877
41TYRO31.06696264
42PINK11.03548489
43FES1.03520535
44MAP3K21.00755515
45PKN10.98922210
46CAMK2A0.98717251
47PTK2B0.96226542
48TAOK10.95258165
49LATS20.94903247
50CAMK10.94068955
51ADRBK20.91256469
52PRKCH0.89802315
53LATS10.89412300
54SGK4940.88909765
55SGK2230.88909765
56NME10.88789199
57INSRR0.87321656
58PNCK0.86645249
59CDK180.85718083
60CDK150.85487729
61FGFR20.84771536
62CAMKK20.83467632
63CDK140.79773321
64RAF10.78881477
65UHMK10.78540112
66STK110.77429687
67SGK20.76745164
68MAPK150.76730288
69PAK30.74215167
70NEK10.73373891
71GRK10.73291014
72ACVR1B0.73237501
73CDK11A0.72951801
74WNK40.72721623
75RET0.70581814
76MAP3K70.69694733
77CAMK2B0.69065898
78DYRK1A0.68298106
79SGK10.67532082
80SGK30.66946039
81TNK20.66294410
82STK38L0.64466320
83OXSR10.63625491
84BMPR20.63443456
85PDK10.63303750
86ZAK0.62044464
87MAP4K20.61335453
88RIPK10.59901664
89PRKG10.59118797
90MUSK0.59022024
91PDPK10.57684411
92NUAK10.56812286
93ALK0.56429678
94MAP2K60.55268900
95MARK20.54792500
96MAP3K10.54384082
97MAPKAPK50.53615498
98PRKAA10.52798993
99CSNK1G10.50901665
100FGR0.50013942
101RPS6KA30.48981591
102MAPK120.48500770
103PRKACA0.47777555
104FER0.47718014
105STK390.47508251
106CAMK2G0.47417606
107CSNK1G20.47261422
108PRKCE0.46837395
109CAMK1G0.46088409
110CSNK1D0.45669177
111CAMK2D0.44151593
112ERBB20.43048104
113NEK60.42822615
114DDR20.42656506
115MAPK100.42563029
116PRKCZ0.42215291
117MAP2K10.42177373
118MAP3K60.42021666
119CCNB10.41871214
120CAMK1D0.41841760
121CAMK40.41372459
122CSNK1G30.40472400
123WNK30.39979504
124CDC42BPA0.39819570
125DMPK0.39736626
126DAPK30.39139744
127CSNK1A10.38263411
128MAP3K110.38008303
129PIK3CA0.37829698
130CSNK1A1L0.37617172
131CSNK1E0.37431637
132ADRBK10.36992742
133FYN0.36531258
134TAOK20.31160031
135ROCK20.30524514

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.72295137
2Synaptic vesicle cycle_Homo sapiens_hsa047213.43370260
3Olfactory transduction_Homo sapiens_hsa047402.81566314
4* GABAergic synapse_Homo sapiens_hsa047272.67873336
5* Circadian entrainment_Homo sapiens_hsa047132.66029938
6* Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.59500455
7Long-term potentiation_Homo sapiens_hsa047202.56440314
8* Glutamatergic synapse_Homo sapiens_hsa047242.54936615
9* Morphine addiction_Homo sapiens_hsa050322.40801103
10Amphetamine addiction_Homo sapiens_hsa050312.38742925
11Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.23263988
12* Salivary secretion_Homo sapiens_hsa049702.17914348
13Dopaminergic synapse_Homo sapiens_hsa047282.05050070
14* Insulin secretion_Homo sapiens_hsa049112.01809217
15* Gastric acid secretion_Homo sapiens_hsa049711.89357551
16* Cholinergic synapse_Homo sapiens_hsa047251.82172279
17Renin secretion_Homo sapiens_hsa049241.73685663
18* Aldosterone synthesis and secretion_Homo sapiens_hsa049251.70640843
19* Oxytocin signaling pathway_Homo sapiens_hsa049211.67318040
20* Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.66925464
21Taste transduction_Homo sapiens_hsa047421.65404933
22Nitrogen metabolism_Homo sapiens_hsa009101.61441409
23* Calcium signaling pathway_Homo sapiens_hsa040201.61369723
24Long-term depression_Homo sapiens_hsa047301.59738711
25Collecting duct acid secretion_Homo sapiens_hsa049661.59257813
26Serotonergic synapse_Homo sapiens_hsa047261.54349868
27Cocaine addiction_Homo sapiens_hsa050301.53727012
28Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.51269648
29Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.41878779
30Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.39178571
31* GnRH signaling pathway_Homo sapiens_hsa049121.38169400
32* cAMP signaling pathway_Homo sapiens_hsa040241.25314904
33Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.25262105
34* Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.23826725
35Butanoate metabolism_Homo sapiens_hsa006501.23033118
36* Gap junction_Homo sapiens_hsa045401.19386189
37Phototransduction_Homo sapiens_hsa047441.16999136
38Type II diabetes mellitus_Homo sapiens_hsa049301.13165058
39Glioma_Homo sapiens_hsa052141.12964289
40Cardiac muscle contraction_Homo sapiens_hsa042601.10093770
41Phosphatidylinositol signaling system_Homo sapiens_hsa040701.07135224
42Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.04892852
43Arginine and proline metabolism_Homo sapiens_hsa003301.04478453
44Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.03755485
45* cGMP-PKG signaling pathway_Homo sapiens_hsa040221.03108230
46Axon guidance_Homo sapiens_hsa043601.01982994
47* Estrogen signaling pathway_Homo sapiens_hsa049150.99890108
48Histidine metabolism_Homo sapiens_hsa003400.99531293
49beta-Alanine metabolism_Homo sapiens_hsa004100.98778780
50ErbB signaling pathway_Homo sapiens_hsa040120.96676315
51* Melanogenesis_Homo sapiens_hsa049160.95117825
52Vibrio cholerae infection_Homo sapiens_hsa051100.93541066
53Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.92894133
54* Vascular smooth muscle contraction_Homo sapiens_hsa042700.86562533
55Vitamin B6 metabolism_Homo sapiens_hsa007500.85907305
56Propanoate metabolism_Homo sapiens_hsa006400.85586632
57* Dilated cardiomyopathy_Homo sapiens_hsa054140.84450170
58Dorso-ventral axis formation_Homo sapiens_hsa043200.83724190
59Tryptophan metabolism_Homo sapiens_hsa003800.79098022
60Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.77936275
61Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.77092142
62* Phospholipase D signaling pathway_Homo sapiens_hsa040720.76934917
63* Pancreatic secretion_Homo sapiens_hsa049720.76118277
64Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.75147748
65Carbohydrate digestion and absorption_Homo sapiens_hsa049730.72583078
66* Oocyte meiosis_Homo sapiens_hsa041140.72372367
67Ether lipid metabolism_Homo sapiens_hsa005650.72121827
68Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.69176044
69MAPK signaling pathway_Homo sapiens_hsa040100.69003236
70Choline metabolism in cancer_Homo sapiens_hsa052310.68258369
71Linoleic acid metabolism_Homo sapiens_hsa005910.66807996
72Circadian rhythm_Homo sapiens_hsa047100.66562365
73Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.65839428
74* Thyroid hormone synthesis_Homo sapiens_hsa049180.63591841
75alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.63264852
76Tight junction_Homo sapiens_hsa045300.61378764
77* Glucagon signaling pathway_Homo sapiens_hsa049220.60358439
78Neurotrophin signaling pathway_Homo sapiens_hsa047220.60093412
79Hippo signaling pathway_Homo sapiens_hsa043900.59816201
80VEGF signaling pathway_Homo sapiens_hsa043700.59077245
81Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.58867827
82Thyroid hormone signaling pathway_Homo sapiens_hsa049190.57149185
83ABC transporters_Homo sapiens_hsa020100.56906379
84Ras signaling pathway_Homo sapiens_hsa040140.56736737
85* Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.55832079
86Parkinsons disease_Homo sapiens_hsa050120.54558207
87Hedgehog signaling pathway_Homo sapiens_hsa043400.54483667
88mTOR signaling pathway_Homo sapiens_hsa041500.53443928
89Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.51725477
90Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.51033629
91Sphingolipid signaling pathway_Homo sapiens_hsa040710.50745305
92* Rap1 signaling pathway_Homo sapiens_hsa040150.49931754
93Oxidative phosphorylation_Homo sapiens_hsa001900.48911769
94Fatty acid biosynthesis_Homo sapiens_hsa000610.48787944
95Primary bile acid biosynthesis_Homo sapiens_hsa001200.48751700
96Insulin signaling pathway_Homo sapiens_hsa049100.48544185
97Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.48025118
98Arginine biosynthesis_Homo sapiens_hsa002200.46818850
99Lysine degradation_Homo sapiens_hsa003100.46651453
100Inositol phosphate metabolism_Homo sapiens_hsa005620.46593363
101Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.45962869
102Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.45250803
103Endocytosis_Homo sapiens_hsa041440.45107779
104Type I diabetes mellitus_Homo sapiens_hsa049400.44617992
105Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.44273668
106Glycerolipid metabolism_Homo sapiens_hsa005610.43583828
107Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.43551267
108Alcoholism_Homo sapiens_hsa050340.43398687
109Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.43105434
110* Bile secretion_Homo sapiens_hsa049760.42529692
111Fatty acid metabolism_Homo sapiens_hsa012120.41871602
112Prion diseases_Homo sapiens_hsa050200.40906101
113Huntingtons disease_Homo sapiens_hsa050160.40728765
114Wnt signaling pathway_Homo sapiens_hsa043100.39883824
115Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.38996030
116Basal cell carcinoma_Homo sapiens_hsa052170.36861198
117Endometrial cancer_Homo sapiens_hsa052130.36831897
118Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.34727820
119African trypanosomiasis_Homo sapiens_hsa051430.34448789
120Non-small cell lung cancer_Homo sapiens_hsa052230.34190909
121Renal cell carcinoma_Homo sapiens_hsa052110.33678682
122* Longevity regulating pathway - mammal_Homo sapiens_hsa042110.31244647
123Central carbon metabolism in cancer_Homo sapiens_hsa052300.31226556
124Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.30166046
125SNARE interactions in vesicular transport_Homo sapiens_hsa041300.28526912
126Alzheimers disease_Homo sapiens_hsa050100.27109348
127Glycerophospholipid metabolism_Homo sapiens_hsa005640.25462435
128* Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.24650360
129* Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.24382684
130Mineral absorption_Homo sapiens_hsa049780.22347478

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