MLC1

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 function of this gene product is unknown; however, homology to other proteins suggests that it may be an integral membrane transporter. Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an autosomal recessive neurological disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1locomotory exploration behavior (GO:0035641)5.69089469
2cellular potassium ion homeostasis (GO:0030007)5.11868266
3sodium ion export (GO:0071436)5.02051571
4synaptic vesicle maturation (GO:0016188)4.99485020
5presynaptic membrane assembly (GO:0097105)4.98779996
6negative regulation of amyloid precursor protein catabolic process (GO:1902992)4.89766020
7presynaptic membrane organization (GO:0097090)4.73030635
8L-amino acid import (GO:0043092)4.68149727
9response to auditory stimulus (GO:0010996)4.67940064
10glial cell proliferation (GO:0014009)4.67439584
11astrocyte differentiation (GO:0048708)4.66764580
12glutamate secretion (GO:0014047)4.54283263
13alanine transport (GO:0032328)4.50957492
14regulation of short-term neuronal synaptic plasticity (GO:0048172)4.50616052
15neurotransmitter-gated ion channel clustering (GO:0072578)4.39604577
16cell communication by electrical coupling (GO:0010644)4.35802059
17layer formation in cerebral cortex (GO:0021819)4.35398904
18gamma-aminobutyric acid transport (GO:0015812)4.30636068
19amino acid import (GO:0043090)4.29002440
20vocalization behavior (GO:0071625)4.14851607
21positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.11644355
22mechanosensory behavior (GO:0007638)4.11345919
23synaptic vesicle exocytosis (GO:0016079)4.04201122
24positive regulation of synaptic transmission, glutamatergic (GO:0051968)4.00303114
25regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.99666620
26regulation of beta-amyloid formation (GO:1902003)3.95795503
27cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.95660818
28potassium ion import (GO:0010107)3.93329738
29positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.91804633
30dermatan sulfate metabolic process (GO:0030205)3.78259466
31establishment of mitochondrion localization (GO:0051654)3.77811142
32exploration behavior (GO:0035640)3.77754819
33regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.76527266
34proline transport (GO:0015824)3.75980898
35positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.74927775
36regulation of glutamate receptor signaling pathway (GO:1900449)3.74384065
37regulation of synapse structural plasticity (GO:0051823)3.72100776
38positive regulation of synapse maturation (GO:0090129)3.70950836
39regulation of synaptic vesicle exocytosis (GO:2000300)3.70609077
40regulation of neuronal synaptic plasticity (GO:0048168)3.66085050
41negative regulation of astrocyte differentiation (GO:0048712)3.61612906
42neurotransmitter secretion (GO:0007269)3.61365792
43cellular sodium ion homeostasis (GO:0006883)3.61145625
44C4-dicarboxylate transport (GO:0015740)3.60065459
45auditory behavior (GO:0031223)3.58570057
46ionotropic glutamate receptor signaling pathway (GO:0035235)3.54133688
47membrane repolarization (GO:0086009)3.53411941
48synaptic vesicle endocytosis (GO:0048488)3.50188679
49long-term memory (GO:0007616)3.49935599
50neuronal action potential propagation (GO:0019227)3.49144831
51membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.47835543
52synaptic vesicle docking involved in exocytosis (GO:0016081)3.47823441
53positive regulation of potassium ion transmembrane transport (GO:1901381)3.47224287
54neuron projection regeneration (GO:0031102)3.47163208
55long-term synaptic potentiation (GO:0060291)3.46866261
56potassium ion homeostasis (GO:0055075)3.45092249
57regulation of amyloid precursor protein catabolic process (GO:1902991)3.43163961
58regulation of long-term neuronal synaptic plasticity (GO:0048169)3.41694411
59synaptic transmission, glutamatergic (GO:0035249)3.34286944
60G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.33181957
61oligodendrocyte differentiation (GO:0048709)3.31644319
62regulation of respiratory system process (GO:0044065)3.31399418
63regulation of synaptic vesicle transport (GO:1902803)3.29723744
64positive regulation of cellular amide metabolic process (GO:0034250)3.29598719
65negative regulation of sodium ion transport (GO:0010766)3.29148391
66transmission of nerve impulse (GO:0019226)3.27358413
67neuron cell-cell adhesion (GO:0007158)3.25589041
68glutamate receptor signaling pathway (GO:0007215)3.25480297
69regulation of synaptic transmission, glutamatergic (GO:0051966)3.24456225
70positive regulation of membrane potential (GO:0045838)3.23961650
71protein localization to synapse (GO:0035418)3.23882633
72dendritic spine morphogenesis (GO:0060997)3.23253967
73chondroitin sulfate catabolic process (GO:0030207)3.22938057
74regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.18280933
75central nervous system myelination (GO:0022010)3.17473771
76axon ensheathment in central nervous system (GO:0032291)3.17473771
77regulation of ARF protein signal transduction (GO:0032012)3.14796314
78one-carbon compound transport (GO:0019755)3.11598082
79neuromuscular process controlling balance (GO:0050885)3.08035469
80axon regeneration (GO:0031103)3.03568955
81regulation of synapse maturation (GO:0090128)3.03026852
82cerebellar Purkinje cell layer development (GO:0021680)3.02838075
83peptidyl-tyrosine autophosphorylation (GO:0038083)3.02418877
84adenosine receptor signaling pathway (GO:0001973)3.02110637
85regulation of female receptivity (GO:0045924)3.01861988
86regulation of inclusion body assembly (GO:0090083)3.01784329
87acidic amino acid transport (GO:0015800)3.00712705
88dendrite morphogenesis (GO:0048813)2.98048327
89regulation of synaptic plasticity (GO:0048167)2.97504288
90neurotransmitter transport (GO:0006836)2.97219283
91neurotransmitter uptake (GO:0001504)2.96481161
92cerebellar granule cell differentiation (GO:0021707)2.95902840
93G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.94831939
94cerebral cortex neuron differentiation (GO:0021895)2.94040461
95L-serine transport (GO:0015825)2.93495156
96innervation (GO:0060384)2.91165147
97positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.90462574
98regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.90062299
99negative regulation of neurotransmitter transport (GO:0051589)2.89989344
100regulation of inositol phosphate biosynthetic process (GO:0010919)2.89781331
101dendritic spine organization (GO:0097061)2.88370143
102regulation of neurotransmitter levels (GO:0001505)2.88325699
103regulation of membrane repolarization (GO:0060306)2.88295680
104axon development (GO:0061564)2.88282964
105positive regulation of synaptic transmission, GABAergic (GO:0032230)2.86788076
106neuron-neuron synaptic transmission (GO:0007270)2.86704547
107glycine transport (GO:0015816)2.86372665
108postsynaptic membrane organization (GO:0001941)2.84716484
109atrial cardiac muscle cell action potential (GO:0086014)2.84709309
110regulation of dendritic spine morphogenesis (GO:0061001)2.80754102
111positive regulation of potassium ion transport (GO:0043268)2.80333710
112regulation of neurotransmitter uptake (GO:0051580)2.80164220
113negative regulation of synaptic transmission, GABAergic (GO:0032229)2.76906263
114regulation of neurotransmitter transport (GO:0051588)2.76293271
115positive regulation of dendritic spine development (GO:0060999)2.76038890
116L-glutamate transport (GO:0015813)2.74686255
117neuroblast proliferation (GO:0007405)2.73782433
118regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.72874725
119regulation of neurotransmitter secretion (GO:0046928)2.71850913
120positive regulation of synaptic transmission (GO:0050806)2.70053614
121activation of protein kinase A activity (GO:0034199)2.67878846
122prepulse inhibition (GO:0060134)2.66110066
123regulation of phospholipid biosynthetic process (GO:0071071)2.66075038
124dermatan sulfate biosynthetic process (GO:0030208)2.63580370
125astrocyte development (GO:0014002)2.62426320
126neuronal ion channel clustering (GO:0045161)2.62017938
127regulation of excitatory postsynaptic membrane potential (GO:0060079)2.61416980

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.90878777
2SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.02381490
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.93175109
4JARID2_20064375_ChIP-Seq_MESCs_Mouse2.79559871
5SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.76054315
6RNF2_18974828_ChIP-Seq_MESCs_Mouse2.64774263
7EZH2_18974828_ChIP-Seq_MESCs_Mouse2.64774263
8MTF2_20144788_ChIP-Seq_MESCs_Mouse2.57455035
9JARID2_20075857_ChIP-Seq_MESCs_Mouse2.56443283
10DROSHA_22980978_ChIP-Seq_HELA_Human2.55235555
11SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.53831030
12SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.47504857
13SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.46254975
14REST_21632747_ChIP-Seq_MESCs_Mouse2.44712758
15EED_16625203_ChIP-ChIP_MESCs_Mouse2.43603486
16AR_21572438_ChIP-Seq_LNCaP_Human2.33986919
17RNF2_27304074_Chip-Seq_ESCs_Mouse2.31016671
18BP1_19119308_ChIP-ChIP_Hs578T_Human2.30439245
19RARB_27405468_Chip-Seq_BRAIN_Mouse2.29869007
20IKZF1_21737484_ChIP-ChIP_HCT116_Human2.29669324
21EZH2_27304074_Chip-Seq_ESCs_Mouse2.23993975
22MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.20372447
23EZH2_27294783_Chip-Seq_ESCs_Mouse2.18037784
24SUZ12_27294783_Chip-Seq_ESCs_Mouse2.16542463
25GBX2_23144817_ChIP-Seq_PC3_Human2.12024573
26REST_18959480_ChIP-ChIP_MESCs_Mouse1.98060387
27ERG_21242973_ChIP-ChIP_JURKAT_Human1.90659374
28EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.89432501
29RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.83911561
30ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.76216491
31LXR_22292898_ChIP-Seq_THP-1_Human1.74932350
32CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.67879278
33GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.62434521
34SCL_19346495_ChIP-Seq_HPC-7_Human1.58193001
35RING1B_27294783_Chip-Seq_ESCs_Mouse1.56936016
36NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.55049381
37CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.52183653
38RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.45013513
39VDR_21846776_ChIP-Seq_THP-1_Human1.44797144
40KDM2B_26808549_Chip-Seq_DND41_Human1.40867426
41PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.38893103
42THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.34936206
43GATA1_19941827_ChIP-Seq_MEL_Mouse1.33629246
44WT1_25993318_ChIP-Seq_PODOCYTE_Human1.31909145
45DNAJC2_21179169_ChIP-ChIP_NT2_Human1.29370754
46TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.27285893
47ZFP281_18757296_ChIP-ChIP_E14_Mouse1.27223451
48WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.23884391
49CDX2_19796622_ChIP-Seq_MESCs_Mouse1.22707326
50RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.22159061
51CTBP2_25329375_ChIP-Seq_LNCAP_Human1.22124700
52SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.21561336
53KDM2B_26808549_Chip-Seq_K562_Human1.21290770
54TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.20780215
55SMAD4_21799915_ChIP-Seq_A2780_Human1.20613537
56PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.20566522
57SMC4_20622854_ChIP-Seq_HELA_Human1.18684265
58RING1B_27294783_Chip-Seq_NPCs_Mouse1.16066106
59* AR_19668381_ChIP-Seq_PC3_Human1.15159506
60CBX2_27304074_Chip-Seq_ESCs_Mouse1.14942384
61SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.14498790
62CTBP1_25329375_ChIP-Seq_LNCAP_Human1.13997442
63* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.12428970
64SRY_22984422_ChIP-ChIP_TESTIS_Rat1.12353221
65HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.11756516
66TP53_20018659_ChIP-ChIP_R1E_Mouse1.11106674
67SOX2_21211035_ChIP-Seq_LN229_Gbm1.10775938
68SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.10188953
69RXR_22108803_ChIP-Seq_LS180_Human1.09744176
70NR3C1_21868756_ChIP-Seq_MCF10A_Human1.08782514
71NR3C1_23031785_ChIP-Seq_PC12_Mouse1.07787046
72KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.05856024
73AR_25329375_ChIP-Seq_VCAP_Human1.05648456
74CTCF_27219007_Chip-Seq_Bcells_Human1.05590559
75SMAD_19615063_ChIP-ChIP_OVARY_Human1.05467454
76KDM2B_26808549_Chip-Seq_JURKAT_Human1.04542546
77SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.04016788
78GATA1_26923725_Chip-Seq_HPCs_Mouse1.03191972
79P68_20966046_ChIP-Seq_HELA_Human1.03151243
80SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.02999485
81POU5F1_16518401_ChIP-PET_MESCs_Mouse1.02224914
82PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.01679409
83ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.01447586
84SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.00640776
85OCT4_19829295_ChIP-Seq_ESCs_Human1.00499174
86GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.99626303
87BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.99264967
88* MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.98689789
89SMAD3_21741376_ChIP-Seq_ESCs_Human0.97961092
90RUNX1_26923725_Chip-Seq_HPCs_Mouse0.97573352
91PIAS1_25552417_ChIP-Seq_VCAP_Human0.97455612
92ZNF217_24962896_ChIP-Seq_MCF-7_Human0.97201767
93SMAD3_21741376_ChIP-Seq_EPCs_Human0.97132184
94ZFP281_27345836_Chip-Seq_ESCs_Mouse0.96773910
95PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.96733325
96GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.95761575
97TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.95680236
98TCF7_22412390_ChIP-Seq_EML_Mouse0.94931701
99KLF4_19829295_ChIP-Seq_ESCs_Human0.94650637
100YAP1_20516196_ChIP-Seq_MESCs_Mouse0.94447895
101OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.94356151
102SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.93850221
103ZNF274_21170338_ChIP-Seq_K562_Hela0.93346259
104ESR2_21235772_ChIP-Seq_MCF-7_Human0.92964222
105TET1_21490601_ChIP-Seq_MESCs_Mouse0.92814699
106ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.92116236
107STAT3_23295773_ChIP-Seq_U87_Human0.91885478
108EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.91445012
109BCAT_22108803_ChIP-Seq_LS180_Human0.91323959
110TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.91298571
111* SMAD4_21741376_ChIP-Seq_HESCs_Human0.91196473
112SA1_27219007_Chip-Seq_ERYTHROID_Human0.90957770
113DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.90771957
114CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.90699519
115ESR1_15608294_ChIP-ChIP_MCF-7_Human0.90358645
116SMAD3_21741376_ChIP-Seq_HESCs_Human0.89374895
117TP53_16413492_ChIP-PET_HCT116_Human0.89041148
118P300_19829295_ChIP-Seq_ESCs_Human0.88867801
119VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.88138768
120NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.87816616
121P53_22127205_ChIP-Seq_FIBROBLAST_Human0.87479701
122TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.86114012
123GATA1_19941826_ChIP-Seq_K562_Human0.85410876
124SOX3_22085726_ChIP-Seq_NPCs_Mouse0.85327632
125TP53_23651856_ChIP-Seq_MEFs_Mouse0.84685929
126GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.84360542
127ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.84133373
128CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.83947482
129OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.83637946
130ARNT_22903824_ChIP-Seq_MCF-7_Human0.83622942
131TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.83481101
132TP53_18474530_ChIP-ChIP_U2OS_Human0.83093604
133DPY_21335234_ChIP-Seq_ESCs_Mouse0.82587551
134PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.81628085
135TRIM28_21343339_ChIP-Seq_HEK293_Human0.80926271
136KDM2B_26808549_Chip-Seq_SUP-B15_Human0.78690425
137TOP2B_26459242_ChIP-Seq_MCF-7_Human0.78052051
138KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.76494212

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.90916787
2MP0004858_abnormal_nervous_system3.88773247
3MP0003635_abnormal_synaptic_transmissio3.54287294
4MP0003329_amyloid_beta_deposits3.35966793
5MP0003690_abnormal_glial_cell3.15729633
6MP0009745_abnormal_behavioral_response2.83219779
7MP0004270_analgesia2.82174655
8MP0002064_seizures2.80676461
9MP0002063_abnormal_learning/memory/cond2.80164355
10MP0003880_abnormal_central_pattern2.80006279
11MP0001486_abnormal_startle_reflex2.68584277
12MP0009046_muscle_twitch2.66246021
13MP0004885_abnormal_endolymph2.56665226
14MP0005646_abnormal_pituitary_gland2.53902961
15MP0005423_abnormal_somatic_nervous2.41602698
16MP0002572_abnormal_emotion/affect_behav2.37826548
17MP0009780_abnormal_chondrocyte_physiolo2.31008075
18MP0008569_lethality_at_weaning2.17401478
19MP0002638_abnormal_pupillary_reflex2.10587902
20MP0001968_abnormal_touch/_nociception2.08974254
21MP0002909_abnormal_adrenal_gland2.04647581
22MP0002734_abnormal_mechanical_nocicepti2.04436510
23MP0005167_abnormal_blood-brain_barrier2.03473710
24MP0001440_abnormal_grooming_behavior2.00766022
25MP0002272_abnormal_nervous_system1.94735484
26MP0003634_abnormal_glial_cell1.94563304
27MP0000778_abnormal_nervous_system1.87087957
28MP0002733_abnormal_thermal_nociception1.85305223
29MP0000604_amyloidosis1.85182032
30MP0002254_reproductive_system_inflammat1.80265358
31MP0003075_altered_response_to1.79517349
32MP0001984_abnormal_olfaction1.78742397
33MP0002557_abnormal_social/conspecific_i1.74037430
34MP0002736_abnormal_nociception_after1.72671880
35MP0001502_abnormal_circadian_rhythm1.70200376
36MP0001501_abnormal_sleep_pattern1.69977081
37MP0003633_abnormal_nervous_system1.68109705
38MP0002822_catalepsy1.63702949
39MP0001970_abnormal_pain_threshold1.63431225
40MP0002067_abnormal_sensory_capabilities1.63298437
41MP0005645_abnormal_hypothalamus_physiol1.58434375
42MP0002653_abnormal_ependyma_morphology1.57980769
43MP0000955_abnormal_spinal_cord1.55973704
44MP0003632_abnormal_nervous_system1.53981309
45MP0003631_nervous_system_phenotype1.50879568
46MP0002090_abnormal_vision1.39776396
47MP0004811_abnormal_neuron_physiology1.35958095
48MP0002882_abnormal_neuron_morphology1.35585625
49MP0005623_abnormal_meninges_morphology1.28098571
50MP0003136_yellow_coat_color1.27195794
51MP0000920_abnormal_myelination1.25402308
52MP0006276_abnormal_autonomic_nervous1.25281492
53MP0004924_abnormal_behavior1.22014619
54MP0005386_behavior/neurological_phenoty1.22014619
55MP0002066_abnormal_motor_capabilities/c1.21566186
56MP0002152_abnormal_brain_morphology1.21033665
57MP0002184_abnormal_innervation1.19939236
58MP0005551_abnormal_eye_electrophysiolog1.19191720
59MP0001177_atelectasis1.19015230
60MP0002735_abnormal_chemical_nociception1.15731371
61MP0009278_abnormal_bone_marrow1.15500115
62MP0004142_abnormal_muscle_tone1.07644799
63MP0001485_abnormal_pinna_reflex1.03342426
64MP0004742_abnormal_vestibular_system1.02996290
65MP0003787_abnormal_imprinting1.02616056
66MP0003303_peritoneal_inflammation1.00152822
67MP0009840_abnormal_foam_cell0.93698300
68MP0004147_increased_porphyrin_level0.93353222
69MP0001905_abnormal_dopamine_level0.92258457
70MP0009384_cardiac_valve_regurgitation0.91886420
71MP0002089_abnormal_postnatal_growth/wei0.91111867
72MP0001299_abnormal_eye_distance/0.89565044
73MP0003137_abnormal_impulse_conducting0.88192472
74MP0005253_abnormal_eye_physiology0.88144881
75MP0002229_neurodegeneration0.87774244
76MP0001986_abnormal_taste_sensitivity0.87289547
77MP0001529_abnormal_vocalization0.86777779
78MP0003283_abnormal_digestive_organ0.83191212
79MP0001963_abnormal_hearing_physiology0.81915841
80MP0005171_absent_coat_pigmentation0.81054778
81MP0003011_delayed_dark_adaptation0.80406198
82MP0009379_abnormal_foot_pigmentation0.80100715
83MP0003279_aneurysm0.79247078
84MP0002069_abnormal_eating/drinking_beha0.78291492
85MP0004130_abnormal_muscle_cell0.76039204
86MP0003183_abnormal_peptide_metabolism0.75725845
87MP0000751_myopathy0.75056277
88MP0005595_abnormal_vascular_smooth0.73746740
89MP0001545_abnormal_hematopoietic_system0.72369625
90MP0005397_hematopoietic_system_phenotyp0.72369625
91MP0000631_abnormal_neuroendocrine_gland0.72350637
92MP0005166_decreased_susceptibility_to0.71354214
93MP0002752_abnormal_somatic_nervous0.68970477
94MP0005410_abnormal_fertilization0.65133527
95MP0006072_abnormal_retinal_apoptosis0.64770896
96MP0000026_abnormal_inner_ear0.64423969
97MP0003879_abnormal_hair_cell0.63939269
98MP0005377_hearing/vestibular/ear_phenot0.63612151
99MP0003878_abnormal_ear_physiology0.63612151
100MP0008872_abnormal_physiological_respon0.63440659
101MP0004215_abnormal_myocardial_fiber0.63126478
102MP0005379_endocrine/exocrine_gland_phen0.62913627
103MP0008874_decreased_physiological_sensi0.62634412
104MP0003122_maternal_imprinting0.62067112
105MP0003172_abnormal_lysosome_physiology0.61532338
106MP0003861_abnormal_nervous_system0.61456424
107MP0005165_increased_susceptibility_to0.61395053
108MP0001943_abnormal_respiration0.59595519
109MP0005499_abnormal_olfactory_system0.58479147
110MP0005394_taste/olfaction_phenotype0.58479147
111MP0010769_abnormal_survival0.57121108
112MP0001958_emphysema0.57033555
113MP0005388_respiratory_system_phenotype0.55277933
114MP0002133_abnormal_respiratory_system0.55277933
115MP0005464_abnormal_platelet_physiology0.55140763
116MP0005535_abnormal_body_temperature0.55047690
117MP0010768_mortality/aging0.53939563
118MP0001664_abnormal_digestion0.53868931
119MP0000681_abnormal_thyroid_gland0.52619102
120MP0000579_abnormal_nail_morphology0.51687955
121MP0002249_abnormal_larynx_morphology0.51037655
122MP0005058_abnormal_lysosome_morphology0.50624790
123MP0000465_gastrointestinal_hemorrhage0.50274127
124MP0010770_preweaning_lethality0.49464400
125MP0002082_postnatal_lethality0.49464400

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)5.33854285
2Neurofibrillary tangles (HP:0002185)5.31919798
3* Megalencephaly (HP:0001355)4.83172328
4Aplasia involving bones of the upper limbs (HP:0009823)4.80950130
5Aplasia of the phalanges of the hand (HP:0009802)4.80950130
6Aplasia involving bones of the extremities (HP:0009825)4.80950130
7Focal motor seizures (HP:0011153)4.62887289
8Cerebral inclusion bodies (HP:0100314)4.29211733
9Supranuclear gaze palsy (HP:0000605)3.92332878
10Action tremor (HP:0002345)3.81663934
11Diplopia (HP:0000651)3.68659014
12Abnormality of binocular vision (HP:0011514)3.68659014
13Hemiparesis (HP:0001269)3.67214090
14Epileptic encephalopathy (HP:0200134)3.59894614
15Focal seizures (HP:0007359)3.58189129
16Progressive cerebellar ataxia (HP:0002073)3.49028115
17Hemiplegia (HP:0002301)3.46272942
18Obstructive sleep apnea (HP:0002870)3.41001634
19Abnormal eating behavior (HP:0100738)3.36119510
20Visual hallucinations (HP:0002367)3.35302112
21Tetraplegia (HP:0002445)3.28563013
22Clumsiness (HP:0002312)3.01994535
23Dysdiadochokinesis (HP:0002075)3.01459828
24Depression (HP:0000716)2.91080563
25Insomnia (HP:0100785)2.85205597
26Postural instability (HP:0002172)2.77837679
27Polyphagia (HP:0002591)2.77209090
28Intention tremor (HP:0002080)2.74742767
29Truncal ataxia (HP:0002078)2.73131593
30Anomalous pulmonary venous return (HP:0010772)2.67003419
31Ankle clonus (HP:0011448)2.65180844
32Abnormal ciliary motility (HP:0012262)2.63879180
33Generalized tonic-clonic seizures (HP:0002069)2.58466137
34Split foot (HP:0001839)2.56390334
35Abnormal respiratory motile cilium physiology (HP:0012261)2.50839610
36Lower limb asymmetry (HP:0100559)2.48662148
37Anxiety (HP:0000739)2.47850757
38Synostosis involving the elbow (HP:0003938)2.47767466
39Humeroradial synostosis (HP:0003041)2.47767466
40Back pain (HP:0003418)2.46959000
41Status epilepticus (HP:0002133)2.45576594
42Truncus arteriosus (HP:0001660)2.44679881
43Dysmetria (HP:0001310)2.38804974
44Morphological abnormality of the inner ear (HP:0011390)2.32016682
45Bronchomalacia (HP:0002780)2.29072628
46Abnormality of the corticospinal tract (HP:0002492)2.25730512
47Dynein arm defect of respiratory motile cilia (HP:0012255)2.25301135
48Absent/shortened dynein arms (HP:0200106)2.25301135
49Bowel incontinence (HP:0002607)2.22858898
50Abnormality of the pulmonary veins (HP:0011718)2.21076030
51Impaired vibration sensation in the lower limbs (HP:0002166)2.20099651
52Polygenic inheritance (HP:0010982)2.19663499
53Abnormality of the lower motor neuron (HP:0002366)2.18792835
54Apathy (HP:0000741)2.16984753
55Clonus (HP:0002169)2.15203065
56Lower limb muscle weakness (HP:0007340)2.14723258
57Atonic seizures (HP:0010819)2.14555487
58Severe global developmental delay (HP:0011344)2.14285253
59Absence seizures (HP:0002121)2.14081066
60Delusions (HP:0000746)2.13312899
61Bradykinesia (HP:0002067)2.08114090
62Abnormal large intestine physiology (HP:0012700)2.05062123
63Febrile seizures (HP:0002373)2.03728553
64Diminished motivation (HP:0000745)2.03154132
65Hypsarrhythmia (HP:0002521)2.03100313
66Abnormal respiratory motile cilium morphology (HP:0005938)2.02644946
67Abnormal respiratory epithelium morphology (HP:0012253)2.02644946
68Dialeptic seizures (HP:0011146)2.01888421
69Rigidity (HP:0002063)2.01118374
70Renovascular hypertension (HP:0100817)2.00422408
71EEG with generalized epileptiform discharges (HP:0011198)2.00167272
72Cerebral hypomyelination (HP:0006808)1.99837183
73Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.99487495
74Degeneration of the lateral corticospinal tracts (HP:0002314)1.99487495
75Rapidly progressive (HP:0003678)1.98910514
76Dementia (HP:0000726)1.98142962
77Turricephaly (HP:0000262)1.98061336
78Overriding aorta (HP:0002623)1.97984559
79Genetic anticipation (HP:0003743)1.97277748
80Stereotypic behavior (HP:0000733)1.97081704
81Urinary bladder sphincter dysfunction (HP:0002839)1.96818851
82Abnormality of cochlea (HP:0000375)1.96639693
83Epileptiform EEG discharges (HP:0011182)1.95731017
84Annular pancreas (HP:0001734)1.93763935
85Hammertoe (HP:0001765)1.93441033
86Foot dorsiflexor weakness (HP:0009027)1.93291766
87Abnormality of ocular smooth pursuit (HP:0000617)1.92496706
88Neuronal loss in central nervous system (HP:0002529)1.91682512
89Spinal canal stenosis (HP:0003416)1.91596621
90Akinesia (HP:0002304)1.90120911
91Poor eye contact (HP:0000817)1.89715035
92Sleep apnea (HP:0010535)1.89513575
93Abnormality of the periventricular white matter (HP:0002518)1.89278065
94Gaze-evoked nystagmus (HP:0000640)1.88265827
95Limb ataxia (HP:0002070)1.87480218
96Heterochromia iridis (HP:0001100)1.87058455
97Abnormality of the diencephalon (HP:0010662)1.86809325
98Limb dystonia (HP:0002451)1.86688417
99Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.86401769
100Rhinitis (HP:0012384)1.85755400
101Pointed chin (HP:0000307)1.85193596
102Papilledema (HP:0001085)1.85061055
103Impaired smooth pursuit (HP:0007772)1.84927324
104Spastic tetraparesis (HP:0001285)1.84018890
105Mesangial abnormality (HP:0001966)1.83865020
106Amyotrophic lateral sclerosis (HP:0007354)1.83327698
107Torticollis (HP:0000473)1.83322352
108Abnormality of the foot musculature (HP:0001436)1.81061829
109Abnormal social behavior (HP:0012433)1.80684719
110Impaired social interactions (HP:0000735)1.80684719
111Mutism (HP:0002300)1.79851728
112Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)1.78684086
113Gait ataxia (HP:0002066)1.78647326
114Urinary urgency (HP:0000012)1.77503491
115Spastic gait (HP:0002064)1.75526568
116Abnormality of the middle phalanges of the toes (HP:0010183)1.75407594
117Hypoplastic left heart (HP:0004383)1.75189100
118Focal dystonia (HP:0004373)1.75100595
119Increased circulating renin level (HP:0000848)1.75049372
120Ankyloglossia (HP:0010296)1.74847260
121Athetosis (HP:0002305)1.72446813
122Peripheral hypomyelination (HP:0007182)1.72272592
123Hyperventilation (HP:0002883)1.70516650
124Hypoplasia of the corpus callosum (HP:0002079)1.69494084
125Pseudobulbar signs (HP:0002200)1.69204370
126Impaired vibratory sensation (HP:0002495)1.69129073
127Scanning speech (HP:0002168)1.69100641
128Morphological abnormality of the pyramidal tract (HP:0002062)1.68732788
129Narrow nasal bridge (HP:0000446)1.68298377
130Coronal craniosynostosis (HP:0004440)1.67812773
131Broad-based gait (HP:0002136)1.67783959
132Abnormality of the axillary hair (HP:0100134)1.67514440
133Abnormality of secondary sexual hair (HP:0009888)1.67514440
134Elfin facies (HP:0004428)1.65976275
135Hyperacusis (HP:0010780)1.64436970

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA44.97539143
2LMTK24.96220082
3NTRK23.86348473
4PRKD33.42540696
5PHKG13.11963180
6PHKG23.11963180
7MAP3K93.01356050
8NTRK32.98421151
9MARK12.25277006
10PAK62.24849378
11MINK12.07457147
12TNIK2.04695682
13TNK21.89079716
14DAPK21.75329033
15SIK11.72539676
16MAP3K41.71774870
17KSR21.71681416
18CAMKK11.70894240
19TRIB31.69890342
20TYRO31.58820054
21NTRK11.57447361
22CDK51.41631676
23PKN11.41290253
24SGK4941.30427521
25SGK2231.30427521
26MAP2K71.25947372
27SGK21.21578878
28STK381.20199632
29KSR11.16389393
30PINK11.14843422
31PRKCG1.13527475
32PRPF4B1.12538250
33SGK31.10349171
34MAPK131.09720024
35PRKCH1.06046313
36ROCK20.98053149
37PIM20.97770343
38RAF10.92339697
39MAP3K130.91433262
40SIK20.90742601
41FGR0.89095295
42MAP2K40.87766715
43MUSK0.86750681
44PDK30.84672092
45PDK40.84672092
46CDK150.83533665
47FGFR20.83295657
48CDK180.80367853
49RIPK10.78119626
50PAK30.78100428
51FES0.76194592
52CDK140.75851890
53CAMK2A0.74110508
54CAMKK20.73774176
55ICK0.72816518
56ROCK10.72321546
57MAPK40.72242207
58CDK11A0.72186688
59DYRK1A0.72133418
60PLK20.70772886
61UHMK10.69427600
62ARAF0.68674971
63MAP3K20.68497751
64DDR20.67360102
65JAK20.67100663
66BMX0.66963213
67RIPK40.66439554
68SGK10.64975554
69GRK50.64890708
70ALK0.64808321
71CASK0.63266895
72CCNB10.62367905
73MAPK120.60547393
74CAMK2B0.59451691
75NEK60.58914632
76RET0.58526990
77CAMK2G0.56029415
78NEK10.55945231
79KIT0.55830120
80CDK190.55561296
81STK110.55371472
82LATS20.54166470
83DAPK10.54081415
84DMPK0.53959244
85CAMK10.53608908
86PDGFRA0.53352327
87RPS6KB10.53321413
88CDC42BPA0.52132744
89MOS0.50936960
90PRKCE0.48936006
91RPS6KA30.48880890
92BCKDK0.47983137
93PRKCZ0.46465746
94CAMK2D0.44743356
95EPHB10.44646020
96PNCK0.43939394
97TAOK10.43555577
98FYN0.43473914
99MAPK100.42925446
100PTK2B0.42481778
101MAP3K110.42120284
102PDK10.41811282
103SYK0.41376007
104JAK10.39610427
105PDPK10.39371176
106SCYL20.39132256
107MAPK150.38716101
108ERN10.37148379
109PAK20.36196922
110PRKACG0.36075840
111MARK20.35985004
112CSNK1G20.35918767
113LRRK20.35718546
114ERBB20.35506782
115BMPR20.34939193
116PRKD20.34370370
117CAMK1G0.33962611
118FGFR10.33750746
119SRC0.33717218
120PRKDC0.33329128
121ADRBK10.33286353
122PRKD10.32787473
123BRSK10.32588672
124PRKCA0.30565897
125HIPK20.30462076
126EPHA30.30433467
127GSK3B0.29983365
128CSNK1G30.29062151
129MAPK90.28368588
130PRKCQ0.28353219

Predicted pathways (KEGG)

RankGene SetZ-score
1Nitrogen metabolism_Homo sapiens_hsa009104.40849701
2Fatty acid biosynthesis_Homo sapiens_hsa000612.80421702
3Nicotine addiction_Homo sapiens_hsa050332.76234733
4Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049642.58173026
5GABAergic synapse_Homo sapiens_hsa047272.42658062
6Glutamatergic synapse_Homo sapiens_hsa047242.34955798
7Synaptic vesicle cycle_Homo sapiens_hsa047212.24748717
8Olfactory transduction_Homo sapiens_hsa047402.22123615
9Circadian entrainment_Homo sapiens_hsa047132.18683887
10Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.06651730
11Gastric acid secretion_Homo sapiens_hsa049712.03447708
12Salivary secretion_Homo sapiens_hsa049702.00537600
13Morphine addiction_Homo sapiens_hsa050321.93381093
14Insulin secretion_Homo sapiens_hsa049111.89244738
15Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.88781310
16Long-term potentiation_Homo sapiens_hsa047201.88092812
17Amphetamine addiction_Homo sapiens_hsa050311.72291770
18Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.57205704
19Cocaine addiction_Homo sapiens_hsa050301.51162856
20Dopaminergic synapse_Homo sapiens_hsa047281.47948775
21Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.44470234
22Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.42525559
23Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.41807125
24Cholinergic synapse_Homo sapiens_hsa047251.39705283
25Aldosterone synthesis and secretion_Homo sapiens_hsa049251.39036162
26Fatty acid metabolism_Homo sapiens_hsa012121.34687991
27Renin secretion_Homo sapiens_hsa049241.29970981
28Calcium signaling pathway_Homo sapiens_hsa040201.27120543
29cAMP signaling pathway_Homo sapiens_hsa040241.19899648
30Long-term depression_Homo sapiens_hsa047301.19161855
31Vitamin B6 metabolism_Homo sapiens_hsa007501.18869028
32Taste transduction_Homo sapiens_hsa047421.14482886
33Oxytocin signaling pathway_Homo sapiens_hsa049211.13522515
34Gap junction_Homo sapiens_hsa045401.11015571
35Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.10999275
36Melanogenesis_Homo sapiens_hsa049161.10640083
37Bile secretion_Homo sapiens_hsa049761.09332873
38GnRH signaling pathway_Homo sapiens_hsa049121.06497863
39Dorso-ventral axis formation_Homo sapiens_hsa043201.01731292
40Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.99186895
41Serotonergic synapse_Homo sapiens_hsa047260.98992735
42Phospholipase D signaling pathway_Homo sapiens_hsa040720.93831976
43Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.92713200
44Carbohydrate digestion and absorption_Homo sapiens_hsa049730.91834056
45Estrogen signaling pathway_Homo sapiens_hsa049150.90983843
46Glioma_Homo sapiens_hsa052140.90455360
47Axon guidance_Homo sapiens_hsa043600.83786343
48Thyroid hormone synthesis_Homo sapiens_hsa049180.83372882
49Inositol phosphate metabolism_Homo sapiens_hsa005620.81716074
50Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.81700926
51Fatty acid degradation_Homo sapiens_hsa000710.80796005
52Phosphatidylinositol signaling system_Homo sapiens_hsa040700.80554485
53Circadian rhythm_Homo sapiens_hsa047100.80015166
54cGMP-PKG signaling pathway_Homo sapiens_hsa040220.79815961
55Pancreatic secretion_Homo sapiens_hsa049720.79761045
56Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.78501594
57Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.78032100
58Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.78021683
59Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.76327841
60Thyroid hormone signaling pathway_Homo sapiens_hsa049190.75800756
61Notch signaling pathway_Homo sapiens_hsa043300.75036860
62Mineral absorption_Homo sapiens_hsa049780.74051151
63Sphingolipid signaling pathway_Homo sapiens_hsa040710.72012979
64Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.71129143
65ErbB signaling pathway_Homo sapiens_hsa040120.71045514
66Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.69638147
67PPAR signaling pathway_Homo sapiens_hsa033200.69454705
68Platelet activation_Homo sapiens_hsa046110.67959096
69Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.66566030
70Type II diabetes mellitus_Homo sapiens_hsa049300.66526793
71Glucagon signaling pathway_Homo sapiens_hsa049220.66489944
72Dilated cardiomyopathy_Homo sapiens_hsa054140.64425037
73Cardiac muscle contraction_Homo sapiens_hsa042600.61280250
74Butanoate metabolism_Homo sapiens_hsa006500.60062076
75Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.59444003
76mTOR signaling pathway_Homo sapiens_hsa041500.59040228
77Neurotrophin signaling pathway_Homo sapiens_hsa047220.57579798
78Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.56267830
79Choline metabolism in cancer_Homo sapiens_hsa052310.55402477
80Vascular smooth muscle contraction_Homo sapiens_hsa042700.54520280
81Glycerophospholipid metabolism_Homo sapiens_hsa005640.53535208
82Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.53503841
83Rap1 signaling pathway_Homo sapiens_hsa040150.52380044
84Adipocytokine signaling pathway_Homo sapiens_hsa049200.51786478
85Non-small cell lung cancer_Homo sapiens_hsa052230.50687422
86Prion diseases_Homo sapiens_hsa050200.50660358
87Hedgehog signaling pathway_Homo sapiens_hsa043400.50066260
88Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.49550885
89Basal cell carcinoma_Homo sapiens_hsa052170.49057294
90Arginine and proline metabolism_Homo sapiens_hsa003300.48673727
91Type I diabetes mellitus_Homo sapiens_hsa049400.47950015
92Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.46750633
93Wnt signaling pathway_Homo sapiens_hsa043100.46143939
94Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.45822516
95Chronic myeloid leukemia_Homo sapiens_hsa052200.44942445
96beta-Alanine metabolism_Homo sapiens_hsa004100.44826525
97MAPK signaling pathway_Homo sapiens_hsa040100.44437347
98Collecting duct acid secretion_Homo sapiens_hsa049660.43582459
99Vibrio cholerae infection_Homo sapiens_hsa051100.43060533
100Oocyte meiosis_Homo sapiens_hsa041140.42485455
101Insulin signaling pathway_Homo sapiens_hsa049100.41707365
102Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.40596885
103Endocytosis_Homo sapiens_hsa041440.40134477
104Longevity regulating pathway - mammal_Homo sapiens_hsa042110.38508177
105Colorectal cancer_Homo sapiens_hsa052100.37866876
106Endometrial cancer_Homo sapiens_hsa052130.37678746
107Renal cell carcinoma_Homo sapiens_hsa052110.36504593
108Ras signaling pathway_Homo sapiens_hsa040140.35964229
109Hippo signaling pathway_Homo sapiens_hsa043900.35829199
110B cell receptor signaling pathway_Homo sapiens_hsa046620.34822841
111Histidine metabolism_Homo sapiens_hsa003400.34515338
112Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.33862784
113Glycerolipid metabolism_Homo sapiens_hsa005610.33180278
114Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.33168858
115Arginine biosynthesis_Homo sapiens_hsa002200.32832620
116Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.31873448
117Alcoholism_Homo sapiens_hsa050340.30900364
118African trypanosomiasis_Homo sapiens_hsa051430.30895886
119VEGF signaling pathway_Homo sapiens_hsa043700.30362794
120Propanoate metabolism_Homo sapiens_hsa006400.28792050
121Pancreatic cancer_Homo sapiens_hsa052120.28751813
122AMPK signaling pathway_Homo sapiens_hsa041520.28401111

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