MYOM1

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 giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD (myomesin 1) and 165 kD (myomesin 2). This protein, myomesin 1, like myomesin 2, titin, and other myofibrillar proteins contains structural modules with strong homology to either fibronectin type III (motif I) or immunoglobulin C2 (motif II) domains. Myomesin 1 and myomesin 2 each have a unique N-terminal region followed by 12 modules of motif I or motif II, in the arrangement II-II-I-I-I-I-I-II-II-II-II-II. The two proteins share 50% sequence identity in this repeat-containing region. The head structure formed by these 2 proteins on one end of the titin string extends into the center of the M band. The integrating structure of the sarcomere arises from muscle-specific members of the superfamily of immunoglobulin-like proteins. 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
1sarcomere organization (GO:0045214)9.16932369
2actin-myosin filament sliding (GO:0033275)8.56531177
3muscle filament sliding (GO:0030049)8.56531177
4cardiac myofibril assembly (GO:0055003)8.37411214
5negative regulation of potassium ion transmembrane transporter activity (GO:1901017)7.98823610
6myofibril assembly (GO:0030239)7.89762970
7positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)7.16378302
8actin-mediated cell contraction (GO:0070252)7.12415527
9negative regulation of potassium ion transmembrane transport (GO:1901380)7.08939758
10regulation of skeletal muscle contraction (GO:0014819)7.08068760
11regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)6.87729371
12cardiac muscle contraction (GO:0060048)6.66459514
13regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO6.58618218
14plasma membrane repair (GO:0001778)6.39470639
15regulation of relaxation of muscle (GO:1901077)6.27184803
16sarcoplasmic reticulum calcium ion transport (GO:0070296)6.26215497
17cardiac muscle cell development (GO:0055013)6.24694645
18tricarboxylic acid cycle (GO:0006099)6.03191800
19actomyosin structure organization (GO:0031032)5.93483141
20regulation of actin filament-based movement (GO:1903115)5.87856643
21cardiac cell development (GO:0055006)5.87237398
22striated muscle contraction (GO:0006941)5.80598724
23regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)5.78755305
24cardiac muscle tissue morphogenesis (GO:0055008)5.58883978
25cardiac muscle hypertrophy (GO:0003300)5.56494078
26carnitine shuttle (GO:0006853)5.50460697
27regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.48565508
28regulation of cell communication by electrical coupling (GO:0010649)5.40054141
29regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)5.39071543
30adult heart development (GO:0007512)5.37877779
31actin filament-based movement (GO:0030048)5.36829396
32ventricular cardiac muscle cell action potential (GO:0086005)5.35043451
33striated muscle hypertrophy (GO:0014897)5.33726734
34regulation of sarcomere organization (GO:0060297)5.31724356
35regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)5.28960140
36muscle tissue morphogenesis (GO:0060415)5.10642889
37ventricular cardiac muscle tissue morphogenesis (GO:0055010)5.08069411
38bundle of His cell to Purkinje myocyte communication (GO:0086069)5.07392798
39regulation of striated muscle contraction (GO:0006942)4.99553857
40heart process (GO:0003015)4.89702877
41heart contraction (GO:0060047)4.89702877
42regulation of acyl-CoA biosynthetic process (GO:0050812)4.89507433
43fatty acid transmembrane transport (GO:1902001)4.76144467
44skeletal muscle contraction (GO:0003009)4.74170414
45heart trabecula formation (GO:0060347)4.72860539
46muscle hypertrophy (GO:0014896)4.72372335
47response to stimulus involved in regulation of muscle adaptation (GO:0014874)4.68817602
48cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.59808005
49regulation of membrane repolarization (GO:0060306)4.53093488
50regulation of cofactor metabolic process (GO:0051193)4.46762333
51regulation of coenzyme metabolic process (GO:0051196)4.46762333
52cell communication involved in cardiac conduction (GO:0086065)4.41487985
53regulation of the force of heart contraction (GO:0002026)4.39475411
54creatine metabolic process (GO:0006600)4.07050868
55carnitine transmembrane transport (GO:1902603)4.05238783
56* muscle contraction (GO:0006936)3.95795180
57regulation of cardiac muscle contraction (GO:0055117)3.94828500
58cell communication by electrical coupling (GO:0010644)3.93467174
59positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.92595360
60cardiac muscle adaptation (GO:0014887)3.91881186
61cardiac muscle hypertrophy in response to stress (GO:0014898)3.91881186
62muscle hypertrophy in response to stress (GO:0003299)3.91881186
63striated muscle cell development (GO:0055002)3.89885050
64cardiac muscle cell action potential (GO:0086001)3.87878760
65skeletal muscle adaptation (GO:0043501)3.87535464
66cardiac muscle cell action potential involved in contraction (GO:0086002)3.84950414
67negative regulation of potassium ion transport (GO:0043267)3.82581293
68mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.79508058
69skeletal muscle fiber development (GO:0048741)3.79154941
70regulation of heart rate (GO:0002027)3.78676542
71cardiac chamber formation (GO:0003207)3.78438034
72membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.78260322
73regulation of cardiac muscle cell contraction (GO:0086004)3.77134141
74myotube cell development (GO:0014904)3.77126361
75response to inactivity (GO:0014854)3.76460080
76striated muscle adaptation (GO:0014888)3.75537119
77negative regulation of protein localization to cell surface (GO:2000009)3.75145888
78relaxation of cardiac muscle (GO:0055119)3.74907950
79negative regulation of cardiac muscle cell apoptotic process (GO:0010667)3.71204705
80* muscle system process (GO:0003012)3.69264325
81regulation of ATP catabolic process (GO:1903289)3.69217069
82regulation of ATPase activity (GO:0043462)3.69217069
83carnitine transport (GO:0015879)3.68325647
84amino-acid betaine transport (GO:0015838)3.68325647
85regulation of sulfur metabolic process (GO:0042762)3.64347309
86regulation of muscle system process (GO:0090257)3.62075888
87regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.59691420
88response to caffeine (GO:0031000)3.58720177
89skeletal muscle tissue development (GO:0007519)3.55409159
90relaxation of muscle (GO:0090075)3.54324950
912-oxoglutarate metabolic process (GO:0006103)3.53579350
92regulation of cardioblast differentiation (GO:0051890)3.53121192
93negative regulation of striated muscle cell apoptotic process (GO:0010664)3.52947051
94oxidative phosphorylation (GO:0006119)3.52029283
95NADH metabolic process (GO:0006734)3.51854554
96regulation of calcium ion transmembrane transporter activity (GO:1901019)3.50859082
97regulation of calcium ion transmembrane transport (GO:1903169)3.50859082
98negative regulation of calcium ion transmembrane transport (GO:1903170)3.50784323
99negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.50784323
100ATP synthesis coupled proton transport (GO:0015986)3.48294103
101energy coupled proton transport, down electrochemical gradient (GO:0015985)3.48294103
102response to epinephrine (GO:0071871)3.46775868
103muscle cell cellular homeostasis (GO:0046716)3.46627938
104muscle adaptation (GO:0043500)3.45858880
105cardiac ventricle formation (GO:0003211)3.45679186
106mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.44566628
107regulation of heart contraction (GO:0008016)3.44538429
108regulation of muscle contraction (GO:0006937)3.44239511
109glycogen catabolic process (GO:0005980)3.42717361
110respiratory electron transport chain (GO:0022904)3.41234463
111positive regulation of cation channel activity (GO:2001259)3.39760861
112striated muscle atrophy (GO:0014891)3.37066266
113muscle fiber development (GO:0048747)3.35830476
114cardiac conduction (GO:0061337)3.35573175
115cellular response to epinephrine stimulus (GO:0071872)3.35537386
116muscle cell development (GO:0055001)3.34347405
117electron transport chain (GO:0022900)3.30797330
118negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.25997560
119response to muscle activity (GO:0014850)3.24078323
120muscle cell fate commitment (GO:0042693)3.22787658
121glycogen biosynthetic process (GO:0005978)3.22555432

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1PPARG_19300518_ChIP-PET_3T3-L1_Mouse6.34947814
2EP300_21415370_ChIP-Seq_HL-1_Mouse5.09233101
3TBX20_22328084_ChIP-Seq_HEART_Mouse4.22413229
4TBX20_22080862_ChIP-Seq_HEART_Mouse4.22413229
5ESRRB_18555785_ChIP-Seq_MESCs_Mouse4.09916724
6TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.85093685
7ESR1_20079471_ChIP-ChIP_T-47D_Human3.46820493
8MEF2A_21415370_ChIP-Seq_HL-1_Mouse3.43505623
9BP1_19119308_ChIP-ChIP_Hs578T_Human3.39283030
10RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.37414896
11CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.82932837
12RARG_19884340_ChIP-ChIP_MEFs_Mouse2.74286656
13GATA4_21415370_ChIP-Seq_HL-1_Mouse2.50307585
14TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.46769854
15CDX2_19796622_ChIP-Seq_MESCs_Mouse2.42771907
16EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.21287853
17GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.19018129
18PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.96242106
19NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.91761365
20* NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.86415972
21THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.83856826
22ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.78950538
23CLOCK_20551151_ChIP-Seq_293T_Human1.78657325
24EZH2_22144423_ChIP-Seq_EOC_Human1.75253660
25ESR2_21235772_ChIP-Seq_MCF-7_Human1.72538213
26PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.72314277
27TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.72013912
28ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.60296048
29GBX2_23144817_ChIP-Seq_PC3_Human1.50767064
30GATA1_22025678_ChIP-Seq_K562_Human1.47202119
31BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.43253579
32* ZNF263_19887448_ChIP-Seq_K562_Human1.42669577
33VDR_22108803_ChIP-Seq_LS180_Human1.42486266
34TRIM28_21343339_ChIP-Seq_HEK293_Human1.41507261
35ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.39338483
36CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.39015292
37NFIB_24661679_ChIP-Seq_LUNG_Mouse1.38166564
38PPAR_26484153_Chip-Seq_NCI-H1993_Human1.30023740
39KDM2B_26808549_Chip-Seq_SUP-B15_Human1.27429273
40ISL1_27105846_Chip-Seq_CPCs_Mouse1.24296719
41NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.24164394
42PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.22993418
43NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.22120014
44CTCF_27219007_Chip-Seq_Bcells_Human1.21660186
45RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.21038899
46GATA2_21666600_ChIP-Seq_HMVEC_Human1.20875169
47EZH2_27294783_Chip-Seq_ESCs_Mouse1.18034458
48TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.17435583
49PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.17427768
50BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.17225151
51PPARA_22158963_ChIP-Seq_LIVER_Mouse1.15917104
52KDM2B_26808549_Chip-Seq_DND41_Human1.14847705
53DROSHA_22980978_ChIP-Seq_HELA_Human1.14573631
54PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.13724268
55HIF1A_21447827_ChIP-Seq_MCF-7_Human1.12841365
56CJUN_26792858_Chip-Seq_BT549_Human1.10004274
57EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.09922594
58GATA1_19941826_ChIP-Seq_K562_Human1.08423547
59FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.07817165
60* LXR_22158963_ChIP-Seq_LIVER_Mouse1.07529205
61ESR1_21235772_ChIP-Seq_MCF-7_Human1.07528913
62SUZ12_27294783_Chip-Seq_NPCs_Mouse1.07478458
63TP63_22573176_ChIP-Seq_HFKS_Human1.07159927
64SMAD4_21799915_ChIP-Seq_A2780_Human1.05236605
65IGF1R_20145208_ChIP-Seq_DFB_Human1.04969693
66TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.04921271
67CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.04697323
68EZH2_27294783_Chip-Seq_NPCs_Mouse1.04182598
69SOX9_24532713_ChIP-Seq_HFSC_Mouse1.03872888
70KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.03700432
71ZNF274_21170338_ChIP-Seq_K562_Hela1.03247516
72SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.02624894
73EZH2_27304074_Chip-Seq_ESCs_Mouse1.02306312
74SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.00471814
75ATF3_27146783_Chip-Seq_COLON_Human1.00306089
76RACK7_27058665_Chip-Seq_MCF-7_Human0.98467104
77MTF2_20144788_ChIP-Seq_MESCs_Mouse0.98381101
78SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.98343580
79GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.97989194
80PCGF2_27294783_Chip-Seq_NPCs_Mouse0.97972927
81RUNX1_27514584_Chip-Seq_MCF-7_Human0.97701549
82RNF2_18974828_ChIP-Seq_MESCs_Mouse0.97512031
83EZH2_18974828_ChIP-Seq_MESCs_Mouse0.97512031
84ELK3_25401928_ChIP-Seq_HUVEC_Human0.97256524
85CTNNB1_20460455_ChIP-Seq_HCT116_Human0.95787948
86HTT_18923047_ChIP-ChIP_STHdh_Human0.94753915
87SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.93746072
88CRX_20693478_ChIP-Seq_RETINA_Mouse0.92569627
89SMC3_22415368_ChIP-Seq_MEFs_Mouse0.92371105
90AUTS2_25519132_ChIP-Seq_293T-REX_Human0.91779020
91FOXA2_19822575_ChIP-Seq_HepG2_Human0.90678002
92CBX2_27304074_Chip-Seq_ESCs_Mouse0.90336035
93* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.90242920
94SPI1_20517297_ChIP-Seq_HL60_Human0.88427121
95SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.87895810
96SMAD3_21741376_ChIP-Seq_HESCs_Human0.87661315
97* NR3C1_23031785_ChIP-Seq_PC12_Mouse0.87173396
98GATA2_19941826_ChIP-Seq_K562_Human0.86902337
99TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.86305186
100GF1_26923725_Chip-Seq_HPCs_Mouse0.86086976
101CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.85296177
102ZFP281_18757296_ChIP-ChIP_E14_Mouse0.84821996
103OCT4_20526341_ChIP-Seq_ESCs_Human0.84151342
104OCT4_21477851_ChIP-Seq_ESCs_Mouse0.83551041
105PCGF2_27294783_Chip-Seq_ESCs_Mouse0.82406541
106LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.82299943
107RARB_27405468_Chip-Seq_BRAIN_Mouse0.81629790
108TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.81334185
109LXR_22292898_ChIP-Seq_THP-1_Human0.81080549
110ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.80832772
111* FOXH1_21741376_ChIP-Seq_ESCs_Human0.80415295
112TBL1_22424771_ChIP-Seq_293T_Human0.80371691
113RXR_22158963_ChIP-Seq_LIVER_Mouse0.79408146
114P63_26484246_Chip-Seq_KERATINOCYTES_Human0.79251305
115* SOX2_21211035_ChIP-Seq_LN229_Gbm0.79080846
116LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.79048986
117ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.78909008
118GATA1_19941827_ChIP-Seq_MEL86_Mouse0.78590506
119* PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.78495551
120UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.77772355
121SALL4_18804426_ChIP-ChIP_XEN_Mouse0.77673806
122WT1_19549856_ChIP-ChIP_CCG9911_Human0.77100572
123TP53_23651856_ChIP-Seq_MEFs_Mouse0.76699090
124STAT3_1855785_ChIP-Seq_MESCs_Mouse0.76314783
125POU3F2_20337985_ChIP-ChIP_501MEL_Human0.76274677
126SMC1_22415368_ChIP-Seq_MEFs_Mouse0.75771455
127P68_20966046_ChIP-Seq_HELA_Human0.75491022
128NRF2_20460467_ChIP-Seq_MEFs_Mouse0.75339751
129NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.75339751
130MYC_27129775_Chip-Seq_CORNEA_Mouse0.75323663
131CTCF_21964334_ChIP-Seq_BJAB-B_Human0.75222386
132* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.74746474
133YAP1_20516196_ChIP-Seq_MESCs_Mouse0.74354646
134* WT1_25993318_ChIP-Seq_PODOCYTE_Human0.74314156
135SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.73982293
136* SMAD4_21741376_ChIP-Seq_HESCs_Human0.73904715
137GATA1_19941827_ChIP-Seq_MEL_Mouse0.73754442
138CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.73690444
139* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.73643770
140NFE2_27457419_Chip-Seq_LIVER_Mouse0.73212003
141* TCF4_23295773_ChIP-Seq_U87_Human0.73141334
142SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.73112011
143CTCF_21964334_Chip-Seq_Bcells_Human0.73059630
144WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.72460936
145FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.71979768
146* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.71553529

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002837_dystrophic_cardiac_calcinosis6.34763367
2MP0004084_abnormal_cardiac_muscle5.52765752
3MP0003646_muscle_fatigue5.50665173
4MP0000751_myopathy5.31120557
5MP0000749_muscle_degeneration4.48908869
6MP0004215_abnormal_myocardial_fiber4.48458638
7MP0004036_abnormal_muscle_relaxation4.45406022
8MP0005330_cardiomyopathy3.81394373
9MP0004145_abnormal_muscle_electrophysio3.39143380
10MP0004087_abnormal_muscle_fiber3.30062812
11MP0002972_abnormal_cardiac_muscle3.04769166
12MP0005620_abnormal_muscle_contractility2.94921354
13MP0000750_abnormal_muscle_regeneration2.92518175
14MP0002106_abnormal_muscle_physiology2.92376421
15MP0008775_abnormal_heart_ventricle2.82830872
16MP0004130_abnormal_muscle_cell2.68349505
17MP0003137_abnormal_impulse_conducting2.67340891
18MP0010630_abnormal_cardiac_muscle2.57134898
19MP0002269_muscular_atrophy2.55689680
20MP0000747_muscle_weakness2.46695968
21MP0005385_cardiovascular_system_phenoty2.46457232
22MP0001544_abnormal_cardiovascular_syste2.46457232
23MP0004484_altered_response_of2.42361821
24MP0005369_muscle_phenotype2.37680380
25MP0000759_abnormal_skeletal_muscle2.30911017
26MP0006138_congestive_heart_failure2.18913479
27MP0003828_pulmonary_edema2.10357502
28MP0004510_myositis2.03325965
29MP0003221_abnormal_cardiomyocyte_apopto1.95207284
30MP0004085_abnormal_heartbeat1.94353505
31MP0004233_abnormal_muscle_weight1.87694508
32MP0003950_abnormal_plasma_membrane1.69980336
33MP0002127_abnormal_cardiovascular_syste1.68250750
34MP0006036_abnormal_mitochondrial_physio1.66318049
35MP0002332_abnormal_exercise_endurance1.50883574
36MP0005666_abnormal_adipose_tissue1.35941248
37MP0003567_abnormal_fetal_cardiomyocyte1.32883547
38MP0001661_extended_life_span1.21287751
39MP0000266_abnormal_heart_morphology1.13123955
40MP0005670_abnormal_white_adipose1.10722750
41MP0002108_abnormal_muscle_morphology1.09469517
42MP0000343_altered_response_to1.07881589
43MP0002234_abnormal_pharynx_morphology1.04699745
44MP0004185_abnormal_adipocyte_glucose1.03100584
45MP0000733_abnormal_muscle_development1.02026034
46MP0010368_abnormal_lymphatic_system1.01763545
47MP0003279_aneurysm0.99884878
48MP0006035_abnormal_mitochondrial_morpho0.98572505
49MP0005165_increased_susceptibility_to0.95328908
50MP0005375_adipose_tissue_phenotype0.93710261
51MP0003705_abnormal_hypodermis_morpholog0.82090005
52MP0004270_analgesia0.79676149
53MP0003566_abnormal_cell_adhesion0.79640000
54MP0005266_abnormal_metabolism0.79252650
55MP0002128_abnormal_blood_circulation0.78282721
56MP0000230_abnormal_systemic_arterial0.72963676
57MP0005275_abnormal_skin_tensile0.71718837
58MP0005623_abnormal_meninges_morphology0.70881191
59MP0000013_abnormal_adipose_tissue0.67008050
60MP0005451_abnormal_body_composition0.66938681
61MP0008438_abnormal_cutaneous_collagen0.64399643
62MP0004272_abnormal_basement_membrane0.64220223
63MP0002971_abnormal_brown_adipose0.63566115
64MP0001879_abnormal_lymphatic_vessel0.63090265
65MP0000767_abnormal_smooth_muscle0.60575621
66MP0003806_abnormal_nucleotide_metabolis0.57847991
67MP0000003_abnormal_adipose_tissue0.56654573
68MP0004043_abnormal_pH_regulation0.50161027
69MP0002925_abnormal_cardiovascular_devel0.48022434
70MP0002822_catalepsy0.47933516
71MP0009384_cardiac_valve_regurgitation0.47046077
72MP0004147_increased_porphyrin_level0.46287843
73MP0002078_abnormal_glucose_homeostasis0.43094985
74MP0005187_abnormal_penis_morphology0.42473288
75MP0002909_abnormal_adrenal_gland0.41518328
76MP0005319_abnormal_enzyme/_coenzyme0.40951581
77MP0008961_abnormal_basal_metabolism0.40392618
78MP0001784_abnormal_fluid_regulation0.38596066
79MP0003045_fibrosis0.38333934
80MP0001614_abnormal_blood_vessel0.37890602
81MP0003984_embryonic_growth_retardation0.37294383
82MP0002088_abnormal_embryonic_growth/wei0.36735876
83MP0008569_lethality_at_weaning0.35182268
84MP0002638_abnormal_pupillary_reflex0.35078761
85MP0003948_abnormal_gas_homeostasis0.32190507
86MP0000372_irregular_coat_pigmentation0.30125965
87MP0005167_abnormal_blood-brain_barrier0.30065894
88MP0005334_abnormal_fat_pad0.28244073
89MP0003879_abnormal_hair_cell0.25501883
90MP0005595_abnormal_vascular_smooth0.24928807
91MP0005503_abnormal_tendon_morphology0.24369808
92MP0001958_emphysema0.23280768
93MP0004134_abnormal_chest_morphology0.23232812
94MP0005535_abnormal_body_temperature0.23106625
95MP0005376_homeostasis/metabolism_phenot0.22694086
96MP0001984_abnormal_olfaction0.22394126
97MP0009780_abnormal_chondrocyte_physiolo0.21571896
98MP0003656_abnormal_erythrocyte_physiolo0.21517535
99MP0003941_abnormal_skin_development0.20654313
100MP0009115_abnormal_fat_cell0.20480417
101MP0008004_abnormal_stomach_pH0.20303557
102MP0000762_abnormal_tongue_morphology0.19189770
103MP0001727_abnormal_embryo_implantation0.18742917
104MP0001299_abnormal_eye_distance/0.18696577
105MP0005584_abnormal_enzyme/coenzyme_acti0.18187857
106MP0000579_abnormal_nail_morphology0.18148458
107MP0000249_abnormal_blood_vessel0.17900853
108MP0005452_abnormal_adipose_tissue0.17632510
109MP0004924_abnormal_behavior0.17427429
110MP0005386_behavior/neurological_phenoty0.17427429
111MP0006276_abnormal_autonomic_nervous0.17272780
112MP0008874_decreased_physiological_sensi0.17003950
113MP0004142_abnormal_muscle_tone0.16473545
114MP0005332_abnormal_amino_acid0.16273036
115MP0002118_abnormal_lipid_homeostasis0.16237504
116MP0002133_abnormal_respiratory_system0.16141365
117MP0005388_respiratory_system_phenotype0.16141365
118MP0001672_abnormal_embryogenesis/_devel0.15902289
119MP0005380_embryogenesis_phenotype0.15902289
120MP0002877_abnormal_melanocyte_morpholog0.15721781
121MP0009672_abnormal_birth_weight0.15386237

Predicted human phenotypes

RankGene SetZ-score
1Sudden death (HP:0001699)7.83888595
2Exercise-induced myalgia (HP:0003738)6.75285451
3Calf muscle hypertrophy (HP:0008981)6.69493388
4Exercise-induced muscle cramps (HP:0003710)6.67192675
5Muscle hypertrophy of the lower extremities (HP:0008968)6.41243798
6Ventricular tachycardia (HP:0004756)6.29337011
7Muscle fiber splitting (HP:0003555)6.05168711
8Abnormality of the calf musculature (HP:0001430)5.50993484
9Atrial fibrillation (HP:0005110)5.36223890
10Hyporeflexia of lower limbs (HP:0002600)5.31384155
11Abnormality of the left ventricular outflow tract (HP:0011103)5.20094797
12Subaortic stenosis (HP:0001682)5.20094797
13Myoglobinuria (HP:0002913)5.12316455
14Primary atrial arrhythmia (HP:0001692)5.00627400
15Lipoatrophy (HP:0100578)4.94549798
16Supraventricular tachycardia (HP:0004755)4.83532398
17Muscle fiber inclusion bodies (HP:0100299)4.75016972
18Supraventricular arrhythmia (HP:0005115)4.74348875
19Right ventricular cardiomyopathy (HP:0011663)4.70989826
20Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)4.68187366
21EMG: myopathic abnormalities (HP:0003458)4.64471067
22Type 1 muscle fiber predominance (HP:0003803)4.44546948
23Syncope (HP:0001279)4.33780364
24Increased connective tissue (HP:0009025)4.27829038
25Dilated cardiomyopathy (HP:0001644)4.16582040
26Difficulty running (HP:0009046)4.09780140
27Asymmetric septal hypertrophy (HP:0001670)4.05504876
28Rhabdomyolysis (HP:0003201)4.04334825
29Nemaline bodies (HP:0003798)4.01018395
30Bundle branch block (HP:0011710)3.99603544
31Prolonged QT interval (HP:0001657)3.88620506
32Palpitations (HP:0001962)3.87288717
33Ventricular arrhythmia (HP:0004308)3.77668626
34Myotonia (HP:0002486)3.67266417
35Calcaneovalgus deformity (HP:0001848)3.45481111
36Heart block (HP:0012722)3.38713942
37Atrioventricular block (HP:0001678)3.22530017
38Abnormal atrioventricular conduction (HP:0005150)3.20224529
39Difficulty climbing stairs (HP:0003551)3.17041402
40Ventricular fibrillation (HP:0001663)3.16862540
41Absent phalangeal crease (HP:0006109)3.15154986
42Muscle stiffness (HP:0003552)3.09487231
43Neck muscle weakness (HP:0000467)3.04275094
44Deformed tarsal bones (HP:0008119)3.03660397
45Distal arthrogryposis (HP:0005684)3.03189984
46Increased variability in muscle fiber diameter (HP:0003557)2.91990130
47Abnormality of skeletal muscle fiber size (HP:0012084)2.88558620
48Abnormal EKG (HP:0003115)2.78396836
49Areflexia of lower limbs (HP:0002522)2.71818401
50Rimmed vacuoles (HP:0003805)2.70580991
51Round ear (HP:0100830)2.70042849
52Malignant hyperthermia (HP:0002047)2.66401164
53Distal lower limb muscle weakness (HP:0009053)2.64140907
54Left ventricular hypertrophy (HP:0001712)2.63245037
55Abnormal finger flexion creases (HP:0006143)2.59043858
56Myopathic facies (HP:0002058)2.58067889
57Hip contracture (HP:0003273)2.53729319
58Palmoplantar keratoderma (HP:0000982)2.45492087
59Mildly elevated creatine phosphokinase (HP:0008180)2.41423135
60Bulbar palsy (HP:0001283)2.38933707
61Hepatic necrosis (HP:0002605)2.37424918
62Abnormal mitochondria in muscle tissue (HP:0008316)2.36271681
63Hypoplastic ischia (HP:0003175)2.34862756
64Fetal akinesia sequence (HP:0001989)2.33841552
65EMG: neuropathic changes (HP:0003445)2.33642140
66Limb-girdle muscle atrophy (HP:0003797)2.29777893
67Acute necrotizing encephalopathy (HP:0006965)2.28533897
68Centrally nucleated skeletal muscle fibers (HP:0003687)2.28443252
69Ketoacidosis (HP:0001993)2.28336045
70Generalized muscle weakness (HP:0003324)2.28074520
71Muscular dystrophy (HP:0003560)2.21503760
72Hypoglycemic coma (HP:0001325)2.19927954
73Scapular winging (HP:0003691)2.15918438
74Facial diplegia (HP:0001349)2.14535486
75Ulnar deviation of the wrist (HP:0003049)2.13910247
76Conjunctival hamartoma (HP:0100780)2.13390488
77Ragged-red muscle fibers (HP:0003200)2.11866072
78Weak cry (HP:0001612)2.11533562
79Gowers sign (HP:0003391)2.10086239
80Abnormality of the foot musculature (HP:0001436)2.06979387
81Distal lower limb amyotrophy (HP:0008944)2.06769352
82Abnormality of the ischium (HP:0003174)2.04740577
83Hepatocellular necrosis (HP:0001404)2.01983296
84Testicular atrophy (HP:0000029)1.99448452
85Abnormality of the neuromuscular junction (HP:0003398)1.99397849
86Fatigable weakness (HP:0003473)1.99397849
87Increased muscle lipid content (HP:0009058)1.99158706
88Frequent falls (HP:0002359)1.97417342
89Sudden cardiac death (HP:0001645)1.96744149
90Acute encephalopathy (HP:0006846)1.93975923
91Abnormality of fatty-acid metabolism (HP:0004359)1.93575367
92Exercise intolerance (HP:0003546)1.93220525
93Abnormality of the calcaneus (HP:0008364)1.93158784
94Abnormality of the shoulder girdle musculature (HP:0001435)1.93115472
95Foot dorsiflexor weakness (HP:0009027)1.92543615
96Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.91703310
97Waddling gait (HP:0002515)1.90742492
98Abnormality of dicarboxylic acid metabolism (HP:0010995)1.89359488
99Dicarboxylic aciduria (HP:0003215)1.89359488
100Progressive macrocephaly (HP:0004481)1.89198874
101Congestive heart failure (HP:0001635)1.87774614
102Lower limb amyotrophy (HP:0007210)1.86463020
103Steppage gait (HP:0003376)1.86275113
104Mitochondrial inheritance (HP:0001427)1.84515758
105Proximal amyotrophy (HP:0007126)1.84453623
106Progressive muscle weakness (HP:0003323)1.82619079
107Cerebral edema (HP:0002181)1.79558510
108Increased CSF lactate (HP:0002490)1.79423549
109Hyperkalemia (HP:0002153)1.79009685
110Respiratory insufficiency due to muscle weakness (HP:0002747)1.78567738
111Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.77984313
112Abnormality of alanine metabolism (HP:0010916)1.77984313
113Hyperalaninemia (HP:0003348)1.77984313
114Limited hip movement (HP:0008800)1.77909877
115Slender build (HP:0001533)1.75235859
116Increased intramyocellular lipid droplets (HP:0012240)1.74957266
117Broad metatarsal (HP:0001783)1.74947932
118Spinal rigidity (HP:0003306)1.74105841
119Pheochromocytoma (HP:0002666)1.73227824
120Hamartoma of the eye (HP:0010568)1.73187726
121Metatarsus adductus (HP:0001840)1.70349187
122Popliteal pterygium (HP:0009756)1.63161526
123Hypoplastic heart (HP:0001961)1.54531208
124Aplasia of the musculature (HP:0100854)1.46359924
125Limb-girdle muscle weakness (HP:0003325)1.46030523
126Type 2 muscle fiber atrophy (HP:0003554)1.42200298
127Oligomenorrhea (HP:0000876)1.41381916

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN6.65254136
2TTN5.84735338
3PHKG24.25028123
4PHKG14.25028123
5PDK43.21642245
6PDK33.21642245
7MYLK3.18014664
8DMPK3.16106879
9LMTK23.03982360
10PKN22.95767995
11TRIB32.54712835
12NEK12.36906139
13PIK3CA2.28445401
14MUSK2.13372539
15STK242.11211973
16BCKDK1.95922847
17PDK21.95522793
18TIE11.89789617
19PINK11.79291753
20ZAK1.39947306
21MAP3K71.36091362
22ILK1.26189199
23MAP2K31.24799046
24MARK11.22046062
25PIK3CG1.21695049
26GRK71.19262015
27MAPK121.13703955
28NME11.11764734
29CAMK2D1.09848475
30PRKD11.09476669
31PAK31.04005036
32TRPM70.97572762
33INSRR0.97133077
34ROCK10.93260956
35PRKAA20.90157750
36CDC42BPA0.89637912
37FLT30.89291175
38PRKAA10.88597040
39EEF2K0.87086837
40MAPKAPK30.86590465
41RIPK10.86149242
42WNK40.81731664
43STK38L0.81562621
44MAP3K50.76778894
45MAP3K30.75235664
46STK40.71912504
47CCNB10.67673722
48PDGFRA0.65010640
49PKN10.62770164
50EPHA30.62743695
51MAPK40.60726749
52DAPK30.59147081
53CAMK40.58214724
54MOS0.56999635
55NEK90.56742103
56WNK10.55880960
57TGFBR20.54088791
58ERBB30.52988155
59MAP3K60.50893188
60STK380.50211801
61KDR0.49356171
62EPHB10.49185887
63ROCK20.48584627
64DYRK1B0.48436902
65MAP2K10.47962568
66CAMK2B0.47765354
67PTK2B0.46932691
68CAMK2A0.46082476
69PRKACB0.46010893
70AKT20.45111063
71CAMK10.44170329
72SIK10.43311688
73KSR20.42793939
74PTK60.38632427
75LATS10.38144611
76RPS6KL10.37690858
77RPS6KC10.37690858
78CAMK2G0.37674125
79SGK20.34333636
80STK390.34032256
81MAP2K40.32237614
82* PRKACA0.32221557
83ICK0.31806480
84PDPK10.30659841
85RPS6KA60.30011801
86MAP2K60.27682876
87PDK10.27049952
88PRKCE0.26857674
89MAPK100.25275565
90PRKG10.24814317
91MAP3K100.24518795
92* PRKACG0.24009904
93MARK20.22601953
94NLK0.22362337
95MAPK110.21893888
96MTOR0.21399735
97RPS6KA10.20800308
98MAP3K130.20290476
99LIMK10.20159600
100PRKCH0.19328473
101RET0.19297465
102LATS20.18464434
103STK110.18424895
104FER0.18128897
105MAPK70.17499471
106EPHB20.17455277
107SGK10.16691688
108RPS6KB20.16476896
109JAK10.16287214
110LRRK20.16254016
111SGK30.15802444
112DDR20.15797142
113PRKG20.15682463
114RAF10.15587131
115RPS6KA30.15504694
116ZAP700.15353319
117SGK2230.14484700
118SGK4940.14484700
119FGFR30.13243674
120PRKD30.10402142
121TAOK10.09220535
122PDGFRB0.08706661
123RPS6KA20.07642798
124FGFR10.06610105
125MAP3K10.06300391

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000205.80607656
2Cardiac muscle contraction_Homo sapiens_hsa042604.39023733
3Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054104.16765965
42-Oxocarboxylic acid metabolism_Homo sapiens_hsa012104.14969389
5Dilated cardiomyopathy_Homo sapiens_hsa054144.11089587
6Propanoate metabolism_Homo sapiens_hsa006403.05187208
7Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.01034272
8Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.95719162
9Parkinsons disease_Homo sapiens_hsa050122.80403444
10Fatty acid degradation_Homo sapiens_hsa000712.68947073
11Oxidative phosphorylation_Homo sapiens_hsa001902.63518868
12Carbon metabolism_Homo sapiens_hsa012002.42123377
13Alzheimers disease_Homo sapiens_hsa050102.11236003
14Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.06863281
15Fatty acid metabolism_Homo sapiens_hsa012122.01443215
16Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.95033876
17Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.90904496
18Viral myocarditis_Homo sapiens_hsa054161.84142779
19Pyruvate metabolism_Homo sapiens_hsa006201.68541078
20Huntingtons disease_Homo sapiens_hsa050161.67641373
21Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.38884062
22Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.32698137
23Starch and sucrose metabolism_Homo sapiens_hsa005001.31817671
24Insulin resistance_Homo sapiens_hsa049311.29635951
25Glucagon signaling pathway_Homo sapiens_hsa049221.25040780
26cGMP-PKG signaling pathway_Homo sapiens_hsa040221.18075551
27Biosynthesis of amino acids_Homo sapiens_hsa012301.15069596
28Butanoate metabolism_Homo sapiens_hsa006501.13867746
29Insulin signaling pathway_Homo sapiens_hsa049101.11720694
30Adipocytokine signaling pathway_Homo sapiens_hsa049201.10574969
31Fatty acid elongation_Homo sapiens_hsa000621.09697163
32PPAR signaling pathway_Homo sapiens_hsa033200.97342192
33Focal adhesion_Homo sapiens_hsa045100.94187500
34Oxytocin signaling pathway_Homo sapiens_hsa049210.92093525
35Calcium signaling pathway_Homo sapiens_hsa040200.91375135
36Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.87261951
37Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.87046904
38AMPK signaling pathway_Homo sapiens_hsa041520.86818696
39Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.86134506
40HIF-1 signaling pathway_Homo sapiens_hsa040660.80016716
41Tight junction_Homo sapiens_hsa045300.79020260
42Vascular smooth muscle contraction_Homo sapiens_hsa042700.77105542
43Galactose metabolism_Homo sapiens_hsa000520.74045472
44Lysine degradation_Homo sapiens_hsa003100.73487878
45Tryptophan metabolism_Homo sapiens_hsa003800.64547631
46beta-Alanine metabolism_Homo sapiens_hsa004100.64199976
47Arginine biosynthesis_Homo sapiens_hsa002200.63847750
48Type II diabetes mellitus_Homo sapiens_hsa049300.63418160
49Arginine and proline metabolism_Homo sapiens_hsa003300.63244703
50ECM-receptor interaction_Homo sapiens_hsa045120.62983262
51Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.62253991
52Central carbon metabolism in cancer_Homo sapiens_hsa052300.61683822
53Circadian rhythm_Homo sapiens_hsa047100.61069276
54Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.59307780
55Fructose and mannose metabolism_Homo sapiens_hsa000510.58124843
56Salivary secretion_Homo sapiens_hsa049700.53748161
57Adherens junction_Homo sapiens_hsa045200.53366515
58Renin secretion_Homo sapiens_hsa049240.51875539
59Thyroid hormone signaling pathway_Homo sapiens_hsa049190.51120593
60Longevity regulating pathway - mammal_Homo sapiens_hsa042110.50182594
61Long-term potentiation_Homo sapiens_hsa047200.49927948
62Fatty acid biosynthesis_Homo sapiens_hsa000610.49660955
63Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.49267867
64Gastric acid secretion_Homo sapiens_hsa049710.47694994
65Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.46008666
66Phenylalanine metabolism_Homo sapiens_hsa003600.42770183
67Amoebiasis_Homo sapiens_hsa051460.41887306
68cAMP signaling pathway_Homo sapiens_hsa040240.40935670
69Insulin secretion_Homo sapiens_hsa049110.39790719
70Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.37489972
71Nitrogen metabolism_Homo sapiens_hsa009100.37444701
72Amphetamine addiction_Homo sapiens_hsa050310.33609787
73Leukocyte transendothelial migration_Homo sapiens_hsa046700.33262744
74Peroxisome_Homo sapiens_hsa041460.32972917
75Regulation of actin cytoskeleton_Homo sapiens_hsa048100.32907179
76Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.30610926
77Proteoglycans in cancer_Homo sapiens_hsa052050.30479088
78Platelet activation_Homo sapiens_hsa046110.28876821
79Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.26593430
80mTOR signaling pathway_Homo sapiens_hsa041500.26468168
81Melanogenesis_Homo sapiens_hsa049160.25890288
82Circadian entrainment_Homo sapiens_hsa047130.25713121
83Aldosterone synthesis and secretion_Homo sapiens_hsa049250.24415432
84Regulation of autophagy_Homo sapiens_hsa041400.23870333
85GnRH signaling pathway_Homo sapiens_hsa049120.23241506
86Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.23216982
87Renal cell carcinoma_Homo sapiens_hsa052110.20847753
88VEGF signaling pathway_Homo sapiens_hsa043700.18928288
89FoxO signaling pathway_Homo sapiens_hsa040680.18695140
90Carbohydrate digestion and absorption_Homo sapiens_hsa049730.17847634
91Histidine metabolism_Homo sapiens_hsa003400.17475310
92Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.16363531
93Metabolic pathways_Homo sapiens_hsa011000.15706045
94Linoleic acid metabolism_Homo sapiens_hsa005910.15378756
95GABAergic synapse_Homo sapiens_hsa047270.15287198
96Olfactory transduction_Homo sapiens_hsa047400.15250837
97Endometrial cancer_Homo sapiens_hsa052130.13744639
98Ovarian steroidogenesis_Homo sapiens_hsa049130.12689754
99Pancreatic secretion_Homo sapiens_hsa049720.12409070
100Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.11882579
101AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.11488529
102Fat digestion and absorption_Homo sapiens_hsa049750.10958458
103Dorso-ventral axis formation_Homo sapiens_hsa043200.10855681
104Prion diseases_Homo sapiens_hsa050200.10758208
105Tyrosine metabolism_Homo sapiens_hsa003500.10537428
106MAPK signaling pathway_Homo sapiens_hsa040100.08940733
107Cysteine and methionine metabolism_Homo sapiens_hsa002700.08369255
108Toxoplasmosis_Homo sapiens_hsa051450.08143806
109Cholinergic synapse_Homo sapiens_hsa047250.07839921
110Pentose phosphate pathway_Homo sapiens_hsa000300.07142289
111Small cell lung cancer_Homo sapiens_hsa052220.06834978
112Gap junction_Homo sapiens_hsa045400.06269666
113Bile secretion_Homo sapiens_hsa049760.04899447
114Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.03943351
115PI3K-Akt signaling pathway_Homo sapiens_hsa041510.03614918
116Protein digestion and absorption_Homo sapiens_hsa049740.02806479
117Glycerolipid metabolism_Homo sapiens_hsa00561-0.0046329

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