MYL3

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: MYL3 encodes myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypertrophic cardiomyopathy. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1cardiac myofibril assembly (GO:0055003)9.72650700
2sarcomere organization (GO:0045214)9.49099994
3myofibril assembly (GO:0030239)8.43871869
4negative regulation of potassium ion transmembrane transporter activity (GO:1901017)8.10613850
5* actin-myosin filament sliding (GO:0033275)7.56030321
6* muscle filament sliding (GO:0030049)7.56030321
7negative regulation of potassium ion transmembrane transport (GO:1901380)7.35624950
8* cardiac muscle contraction (GO:0060048)7.08228647
9cardiac muscle cell development (GO:0055013)7.03912174
10skeletal muscle contraction (GO:0003009)6.63760758
11cardiac cell development (GO:0055006)6.62178862
12tricarboxylic acid cycle (GO:0006099)6.58425275
13* cardiac muscle tissue morphogenesis (GO:0055008)6.40254153
14regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO6.38843059
15cardiac muscle hypertrophy (GO:0003300)6.28071780
16* actin-mediated cell contraction (GO:0070252)6.27787579
17adult heart development (GO:0007512)6.27474335
18regulation of relaxation of muscle (GO:1901077)6.25217949
19regulation of actin filament-based movement (GO:1903115)6.23375125
20actomyosin structure organization (GO:0031032)6.18550154
21regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)6.16759167
22* ventricular cardiac muscle tissue morphogenesis (GO:0055010)6.11482737
23heart contraction (GO:0060047)6.08994827
24heart process (GO:0003015)6.08994827
25positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)6.02392747
26striated muscle hypertrophy (GO:0014897)5.93700344
27regulation of sarcomere organization (GO:0060297)5.92554631
28ventricular cardiac muscle cell action potential (GO:0086005)5.83859122
29heart trabecula formation (GO:0060347)5.71258943
30* muscle tissue morphogenesis (GO:0060415)5.70866455
31bundle of His cell to Purkinje myocyte communication (GO:0086069)5.68873486
32plasma membrane repair (GO:0001778)5.63859699
33regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)5.60906260
34regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)5.56883318
35creatine metabolic process (GO:0006600)5.49661129
36mitochondrial ATP synthesis coupled proton transport (GO:0042776)5.45342710
37* striated muscle contraction (GO:0006941)5.43363821
38regulation of skeletal muscle contraction (GO:0014819)5.30965756
39muscle hypertrophy (GO:0014896)5.27433316
40negative regulation of cardiac muscle cell apoptotic process (GO:0010667)5.11384180
41regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)5.10664456
42ATP synthesis coupled proton transport (GO:0015986)5.09474420
43energy coupled proton transport, down electrochemical gradient (GO:0015985)5.09474420
44cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.83214651
45* regulation of striated muscle contraction (GO:0006942)4.79085418
46* regulation of the force of heart contraction (GO:0002026)4.76124394
47carnitine shuttle (GO:0006853)4.75940125
48regulation of membrane repolarization (GO:0060306)4.70356241
49negative regulation of striated muscle cell apoptotic process (GO:0010664)4.66600371
50* actin filament-based movement (GO:0030048)4.64865036
51regulation of acyl-CoA biosynthetic process (GO:0050812)4.63786985
52regulation of cardioblast differentiation (GO:0051890)4.63073821
53response to muscle activity (GO:0014850)4.63017714
54regulation of cell communication by electrical coupling (GO:0010649)4.62630027
55oxidative phosphorylation (GO:0006119)4.59193283
56regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)4.57491887
57cell communication involved in cardiac conduction (GO:0086065)4.56368565
58* muscle system process (GO:0003012)4.53266430
59respiratory electron transport chain (GO:0022904)4.49650794
60cardiac muscle adaptation (GO:0014887)4.45021906
61cardiac muscle hypertrophy in response to stress (GO:0014898)4.45021906
62muscle hypertrophy in response to stress (GO:0003299)4.45021906
63sarcoplasmic reticulum calcium ion transport (GO:0070296)4.44693983
64mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.42893288
65ventricular cardiac muscle cell development (GO:0055015)4.41099075
66electron transport chain (GO:0022900)4.37065815
67regulation of cofactor metabolic process (GO:0051193)4.28776713
68regulation of coenzyme metabolic process (GO:0051196)4.28776713
69negative regulation of protein localization to cell surface (GO:2000009)4.24704240
70regulation of heart rate (GO:0002027)4.16348442
71cell communication by electrical coupling (GO:0010644)4.14302930
72regulation of cardiac muscle contraction (GO:0055117)4.14108641
73cardiac muscle cell action potential involved in contraction (GO:0086002)4.12081761
74regulation of cardiac muscle cell contraction (GO:0086004)4.09885487
75response to stimulus involved in regulation of muscle adaptation (GO:0014874)4.09471432
76fatty acid transmembrane transport (GO:1902001)4.08135027
77cardiac muscle cell action potential (GO:0086001)4.05284619
78cardiac ventricle formation (GO:0003211)4.02099838
79negative regulation of potassium ion transport (GO:0043267)3.97629240
80regulation of calcium ion transmembrane transporter activity (GO:1901019)3.96916094
81regulation of calcium ion transmembrane transport (GO:1903169)3.96916094
82relaxation of cardiac muscle (GO:0055119)3.88098531
83striated muscle cell development (GO:0055002)3.87468912
84skeletal muscle adaptation (GO:0043501)3.86672750
85membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.80992614
86* regulation of ATP catabolic process (GO:1903289)3.75416735
87* regulation of ATPase activity (GO:0043462)3.75416735
88NADH metabolic process (GO:0006734)3.73959081
89muscle fiber development (GO:0048747)3.73302939
90* regulation of heart contraction (GO:0008016)3.70187725
91trabecula formation (GO:0060343)3.68289889
92regulation of striated muscle cell apoptotic process (GO:0010662)3.67672731
93cardiac conduction (GO:0061337)3.63234544
94regulation of heart rate by cardiac conduction (GO:0086091)3.56541594
95negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.56280079
96negative regulation of calcium ion transmembrane transport (GO:1903170)3.56280079
97positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.53073747
98detection of calcium ion (GO:0005513)3.49961071
99positive regulation of cation channel activity (GO:2001259)3.48793284
100carnitine transmembrane transport (GO:1902603)3.47454911
1012-oxoglutarate metabolic process (GO:0006103)3.46115475
102* regulation of muscle system process (GO:0090257)3.45350030
103relaxation of muscle (GO:0090075)3.43625567
104regulation of sulfur metabolic process (GO:0042762)3.43258691
105negative regulation of cytosolic calcium ion concentration (GO:0051481)3.42114865
106response to caffeine (GO:0031000)3.41596259
107regulation of sequestering of triglyceride (GO:0010889)3.40250180
108cardiac chamber formation (GO:0003207)3.39575255
109negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.39363786
110positive regulation of heart rate (GO:0010460)3.39339640
111* muscle contraction (GO:0006936)3.38590635
112regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.37082653
113ATP biosynthetic process (GO:0006754)3.36813909
114positive regulation of heart contraction (GO:0045823)3.35187938
115response to epinephrine (GO:0071871)3.34907250
116* regulation of muscle contraction (GO:0006937)3.34861598
117muscle adaptation (GO:0043500)3.34255355
118muscle cell development (GO:0055001)3.32688776
119striated muscle adaptation (GO:0014888)3.30301241
120response to inactivity (GO:0014854)3.29192515
121skeletal muscle fiber development (GO:0048741)3.26440456
122cellular response to epinephrine stimulus (GO:0071872)3.26164181
123glycogen catabolic process (GO:0005980)3.24688631
124potassium ion export (GO:0071435)3.24673103
125regulation of cardiac muscle cell apoptotic process (GO:0010665)3.23384479
126glucan biosynthetic process (GO:0009250)3.16976125
127glycogen biosynthetic process (GO:0005978)3.16976125

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1PPARG_19300518_ChIP-PET_3T3-L1_Mouse7.36635111
2EP300_21415370_ChIP-Seq_HL-1_Mouse6.12132462
3ESRRB_18555785_ChIP-Seq_MESCs_Mouse5.43524773
4* TBX20_22328084_ChIP-Seq_HEART_Mouse4.51362621
5* TBX20_22080862_ChIP-Seq_HEART_Mouse4.51362621
6TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse4.07450926
7MEF2A_21415370_ChIP-Seq_HL-1_Mouse3.92201081
8CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human3.52901196
9ESR1_20079471_ChIP-ChIP_T-47D_Human3.50300438
10GATA4_21415370_ChIP-Seq_HL-1_Mouse3.13908082
11ZNF263_19887448_ChIP-Seq_K562_Human2.83481595
12BP1_19119308_ChIP-ChIP_Hs578T_Human2.72655270
13EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.63425454
14TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.62657690
15RARG_19884340_ChIP-ChIP_MEFs_Mouse2.61109862
16* RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.40334772
17NKX2-5_21415370_ChIP-Seq_HL-1_Mouse2.28186190
18PPARD_23208498_ChIP-Seq_MDA-MB-231_Human2.07511373
19NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.02313700
20CDX2_19796622_ChIP-Seq_MESCs_Mouse1.91555956
21PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.84889092
22TRIM28_21343339_ChIP-Seq_HEK293_Human1.83592244
23ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.82035154
24GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.81704933
25THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.72091595
26CLOCK_20551151_ChIP-Seq_293T_Human1.69054050
27NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.68367602
28GATA1_22025678_ChIP-Seq_K562_Human1.67143460
29ISL1_27105846_Chip-Seq_CPCs_Mouse1.59984930
30PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.59576051
31NFIB_24661679_ChIP-Seq_LUNG_Mouse1.48708831
32TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.47607762
33ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.41705084
34EZH2_22144423_ChIP-Seq_EOC_Human1.40187493
35VDR_22108803_ChIP-Seq_LS180_Human1.38846717
36HIF1A_21447827_ChIP-Seq_MCF-7_Human1.37144269
37ESR2_21235772_ChIP-Seq_MCF-7_Human1.32125581
38BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.30879144
39FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.29155427
40EZH2_27294783_Chip-Seq_ESCs_Mouse1.24942667
41CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.24412082
42PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.24047022
43SRF_21415370_ChIP-Seq_HL-1_Mouse1.20196063
44TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.16548797
45ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.13092132
46GATA1_19941826_ChIP-Seq_K562_Human1.11946478
47BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.11080304
48PPARA_22158963_ChIP-Seq_LIVER_Mouse1.11028711
49EZH2_27304074_Chip-Seq_ESCs_Mouse1.10957983
50LXR_22158963_ChIP-Seq_LIVER_Mouse1.10636706
51PPAR_26484153_Chip-Seq_NCI-H1993_Human1.10469316
52TP63_22573176_ChIP-Seq_HFKS_Human1.08118516
53KDM2B_26808549_Chip-Seq_SUP-B15_Human1.08109120
54SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.07790831
55RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.05949206
56CTCF_27219007_Chip-Seq_Bcells_Human1.05772962
57SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.05331681
58TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.05327398
59SPI1_20517297_ChIP-Seq_HL60_Human1.04537188
60EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.03682686
61GATA2_21666600_ChIP-Seq_HMVEC_Human1.03093121
62TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.02776490
63STAT3_1855785_ChIP-Seq_MESCs_Mouse0.99476870
64RNF2_18974828_ChIP-Seq_MESCs_Mouse0.98916127
65EZH2_18974828_ChIP-Seq_MESCs_Mouse0.98916127
66TBX5_21415370_ChIP-Seq_HL-1_Mouse0.98861488
67RARB_27405468_Chip-Seq_BRAIN_Mouse0.98309623
68AUTS2_25519132_ChIP-Seq_293T-REX_Human0.97286635
69ZNF274_21170338_ChIP-Seq_K562_Hela0.96223343
70NR3C1_23031785_ChIP-Seq_PC12_Mouse0.95255602
71ELK3_25401928_ChIP-Seq_HUVEC_Human0.94266220
72WT1_19549856_ChIP-ChIP_CCG9911_Human0.93942045
73SMC3_22415368_ChIP-Seq_MEFs_Mouse0.92761681
74* MTF2_20144788_ChIP-Seq_MESCs_Mouse0.92447726
75ATF3_27146783_Chip-Seq_COLON_Human0.91173922
76PCGF2_27294783_Chip-Seq_NPCs_Mouse0.91054918
77SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.90643264
78STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.90380330
79RXR_22158963_ChIP-Seq_LIVER_Mouse0.89019620
80* WT1_25993318_ChIP-Seq_PODOCYTE_Human0.88308870
81SOX2_21211035_ChIP-Seq_LN229_Gbm0.87607531
82SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.87442305
83GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.86461282
84HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.86146011
85RUNX1_27514584_Chip-Seq_MCF-7_Human0.86045644
86MYC_27129775_Chip-Seq_CORNEA_Mouse0.86040746
87RACK7_27058665_Chip-Seq_MCF-7_Human0.85865896
88ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.85656372
89* KDM2B_26808549_Chip-Seq_DND41_Human0.85627751
90SMAD3_21741376_ChIP-Seq_HESCs_Human0.85578226
91ZFP281_18757296_ChIP-ChIP_E14_Mouse0.85422216
92CBX2_27304074_Chip-Seq_ESCs_Mouse0.84849606
93DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.83986721
94KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.83880677
95PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.81528708
96PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.80878433
97DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.80666621
98PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.80655249
99MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.80347954
100CJUN_26792858_Chip-Seq_BT549_Human0.80184657
101LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.79885271
102SUZ12_27294783_Chip-Seq_NPCs_Mouse0.79825506
103GBX2_23144817_ChIP-Seq_PC3_Human0.79802301
104NRF2_20460467_ChIP-Seq_MEFs_Mouse0.79481085
105NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.79481085
106GATA2_19941826_ChIP-Seq_K562_Human0.79457923
107SOX9_24532713_ChIP-Seq_HFSC_Mouse0.78927055
108CTNNB1_20460455_ChIP-Seq_HCT116_Human0.78680394
109JARID2_20075857_ChIP-Seq_MESCs_Mouse0.76763690
110CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.76644703
111SMAD4_21799915_ChIP-Seq_A2780_Human0.76326761
112EZH2_27294783_Chip-Seq_NPCs_Mouse0.76274959
113SALL4_18804426_ChIP-ChIP_XEN_Mouse0.76197459
114* OCT4_20526341_ChIP-Seq_ESCs_Human0.76128828
115TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.74617151
116BCAT_22108803_ChIP-Seq_LS180_Human0.74610277
117HTT_18923047_ChIP-ChIP_STHdh_Human0.74231447
118GATA1_19941827_ChIP-Seq_MEL86_Mouse0.73834465
119FOXH1_21741376_ChIP-Seq_ESCs_Human0.73746903
120EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse0.73559753
121TP53_23651856_ChIP-Seq_MEFs_Mouse0.73325968
122FOXA2_19822575_ChIP-Seq_HepG2_Human0.72179170
123GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.71953687
124* GF1_26923725_Chip-Seq_HPCs_Mouse0.71943635
125ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.71470068
126NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.71379413
127LXR_22292898_ChIP-Seq_THP-1_Human0.70909862
128P68_20966046_ChIP-Seq_HELA_Human0.70837661
129SMAD4_21741376_ChIP-Seq_HESCs_Human0.70747375
130GATA1_19941827_ChIP-Seq_MEL_Mouse0.69920557
131BCL6_27268052_Chip-Seq_Bcells_Human0.69592281
132SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.69255719
133PCGF2_27294783_Chip-Seq_ESCs_Mouse0.68991470
134CRX_20693478_ChIP-Seq_RETINA_Mouse0.68889254
135CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.68771350
136SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.68552160
137E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.68223468
138DROSHA_22980978_ChIP-Seq_HELA_Human0.67847738

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002837_dystrophic_cardiac_calcinosis6.57450047
2MP0004084_abnormal_cardiac_muscle6.44305110
3MP0003646_muscle_fatigue5.14189676
4MP0004215_abnormal_myocardial_fiber4.84960774
5MP0000751_myopathy4.80381484
6MP0004036_abnormal_muscle_relaxation4.55972226
7MP0005330_cardiomyopathy4.15373735
8MP0000749_muscle_degeneration4.11031662
9MP0002972_abnormal_cardiac_muscle3.49073978
10MP0008775_abnormal_heart_ventricle3.23314209
11MP0004087_abnormal_muscle_fiber3.12387741
12MP0003137_abnormal_impulse_conducting3.05389879
13MP0010630_abnormal_cardiac_muscle2.82812977
14MP0001544_abnormal_cardiovascular_syste2.80140201
15MP0005385_cardiovascular_system_phenoty2.80140201
16MP0005620_abnormal_muscle_contractility2.79675129
17MP0006138_congestive_heart_failure2.67655689
18MP0003828_pulmonary_edema2.59336277
19MP0004484_altered_response_of2.49963652
20MP0000750_abnormal_muscle_regeneration2.48161391
21MP0002106_abnormal_muscle_physiology2.41650320
22MP0004085_abnormal_heartbeat2.33211267
23MP0003221_abnormal_cardiomyocyte_apopto2.23011799
24MP0002269_muscular_atrophy2.21937151
25MP0004510_myositis2.14618454
26MP0004130_abnormal_muscle_cell2.11285717
27MP0004145_abnormal_muscle_electrophysio2.05231905
28MP0002127_abnormal_cardiovascular_syste1.94493953
29MP0005369_muscle_phenotype1.93627914
30MP0003950_abnormal_plasma_membrane1.81788403
31MP0000759_abnormal_skeletal_muscle1.79658620
32MP0006036_abnormal_mitochondrial_physio1.78637790
33MP0000747_muscle_weakness1.76842948
34MP0004233_abnormal_muscle_weight1.62494482
35MP0003567_abnormal_fetal_cardiomyocyte1.61697110
36MP0002332_abnormal_exercise_endurance1.36376316
37MP0000266_abnormal_heart_morphology1.25052469
38MP0003279_aneurysm1.15466227
39MP0005666_abnormal_adipose_tissue1.12812988
40MP0005451_abnormal_body_composition1.12796275
41MP0000343_altered_response_to1.12165847
42MP0010368_abnormal_lymphatic_system1.12111360
43MP0002234_abnormal_pharynx_morphology1.07219621
44MP0006035_abnormal_mitochondrial_morpho1.06349771
45MP0005670_abnormal_white_adipose1.02228181
46MP0005165_increased_susceptibility_to1.01486387
47MP0001661_extended_life_span0.94534924
48MP0002128_abnormal_blood_circulation0.84778196
49MP0000230_abnormal_systemic_arterial0.84580585
50MP0003566_abnormal_cell_adhesion0.82794065
51MP0005266_abnormal_metabolism0.80240474
52MP0003806_abnormal_nucleotide_metabolis0.76906593
53MP0004272_abnormal_basement_membrane0.73048583
54MP0005375_adipose_tissue_phenotype0.71851538
55MP0005623_abnormal_meninges_morphology0.68152984
56MP0000767_abnormal_smooth_muscle0.66783652
57MP0002108_abnormal_muscle_morphology0.66048715
58MP0004185_abnormal_adipocyte_glucose0.63546307
59MP0001879_abnormal_lymphatic_vessel0.63290867
60MP0003984_embryonic_growth_retardation0.58444545
61MP0002088_abnormal_embryonic_growth/wei0.57943477
62MP0009780_abnormal_chondrocyte_physiolo0.57609171
63MP0002925_abnormal_cardiovascular_devel0.56633110
64MP0003705_abnormal_hypodermis_morpholog0.55238107
65MP0003045_fibrosis0.54841080
66MP0009384_cardiac_valve_regurgitation0.54349323
67MP0004270_analgesia0.48897856
68MP0002909_abnormal_adrenal_gland0.46881026
69MP0000733_abnormal_muscle_development0.46794276
70MP0008569_lethality_at_weaning0.45778589
71MP0004043_abnormal_pH_regulation0.45659821
72MP0001784_abnormal_fluid_regulation0.44633444
73MP0001614_abnormal_blood_vessel0.42522119
74MP0005319_abnormal_enzyme/_coenzyme0.42003815
75MP0005187_abnormal_penis_morphology0.40924270
76MP0008438_abnormal_cutaneous_collagen0.40008906
77MP0003122_maternal_imprinting0.39785999
78MP0004147_increased_porphyrin_level0.39355873
79MP0000003_abnormal_adipose_tissue0.38807915
80MP0002638_abnormal_pupillary_reflex0.37963437
81MP0001299_abnormal_eye_distance/0.37916596
82MP0000013_abnormal_adipose_tissue0.37418434
83MP0002822_catalepsy0.36218838
84MP0001672_abnormal_embryogenesis/_devel0.35221811
85MP0005380_embryogenesis_phenotype0.35221811
86MP0002078_abnormal_glucose_homeostasis0.33362425
87MP0003948_abnormal_gas_homeostasis0.32921566
88MP0005595_abnormal_vascular_smooth0.32621300
89MP0003878_abnormal_ear_physiology0.31992735
90MP0005377_hearing/vestibular/ear_phenot0.31992735
91MP0002971_abnormal_brown_adipose0.30518384
92MP0001727_abnormal_embryo_implantation0.29121599
93MP0005167_abnormal_blood-brain_barrier0.26589560
94MP0002133_abnormal_respiratory_system0.26103702
95MP0005388_respiratory_system_phenotype0.26103702
96MP0005334_abnormal_fat_pad0.25285613
97MP0000762_abnormal_tongue_morphology0.24960874
98MP0005275_abnormal_skin_tensile0.24635252
99MP0003941_abnormal_skin_development0.22056398
100MP0004924_abnormal_behavior0.21790609
101MP0005386_behavior/neurological_phenoty0.21790609
102MP0001984_abnormal_olfaction0.21523438
103MP0005535_abnormal_body_temperature0.21280443
104MP0000249_abnormal_blood_vessel0.20235988
105MP0008004_abnormal_stomach_pH0.19942001
106MP0008961_abnormal_basal_metabolism0.19679440
107MP0003656_abnormal_erythrocyte_physiolo0.19488718
108MP0009115_abnormal_fat_cell0.18269633
109MP0000372_irregular_coat_pigmentation0.18119647
110MP0005376_homeostasis/metabolism_phenot0.17912701
111MP0008874_decreased_physiological_sensi0.17505740
112MP0005409_darkened_coat_color0.17426672
113MP0002295_abnormal_pulmonary_circulatio0.16999155
114MP0005503_abnormal_tendon_morphology0.16827593
115MP0000579_abnormal_nail_morphology0.16192739
116MP0005584_abnormal_enzyme/coenzyme_acti0.16138213
117MP0001958_emphysema0.14873524
118MP0005332_abnormal_amino_acid0.14505431
119MP0001697_abnormal_embryo_size0.14421060
120MP0001175_abnormal_lung_morphology0.13835431
121MP0003385_abnormal_body_wall0.12279779

Predicted human phenotypes

RankGene SetZ-score
1Sudden death (HP:0001699)8.40519695
2Nemaline bodies (HP:0003798)7.99661703
3Ventricular tachycardia (HP:0004756)7.23337829
4Atrial fibrillation (HP:0005110)6.46505477
5Calf muscle hypertrophy (HP:0008981)6.41665511
6Exercise-induced muscle cramps (HP:0003710)6.05869443
7Primary atrial arrhythmia (HP:0001692)6.03962748
8Supraventricular tachycardia (HP:0004755)5.85219596
9Muscle hypertrophy of the lower extremities (HP:0008968)5.78583763
10Lipoatrophy (HP:0100578)5.73664849
11Supraventricular arrhythmia (HP:0005115)5.73396736
12Exercise-induced myalgia (HP:0003738)5.65118886
13Subaortic stenosis (HP:0001682)5.63428635
14Abnormality of the left ventricular outflow tract (HP:0011103)5.63428635
15Abnormality of the calf musculature (HP:0001430)5.32126908
16Muscle fiber splitting (HP:0003555)5.04209826
17Syncope (HP:0001279)4.96644199
18Right ventricular cardiomyopathy (HP:0011663)4.92189412
19Hyporeflexia of lower limbs (HP:0002600)4.78952673
20Dilated cardiomyopathy (HP:0001644)4.70249514
21Myoglobinuria (HP:0002913)4.66891063
22Palpitations (HP:0001962)4.64012670
23Prolonged QT interval (HP:0001657)4.62115582
24Bundle branch block (HP:0011710)4.47861297
25Ventricular arrhythmia (HP:0004308)4.34535644
26Asymmetric septal hypertrophy (HP:0001670)4.25832151
27EMG: myopathic abnormalities (HP:0003458)4.14440676
28Myopathic facies (HP:0002058)3.87907642
29Ventricular fibrillation (HP:0001663)3.83644627
30Heart block (HP:0012722)3.80441616
31Distal arthrogryposis (HP:0005684)3.75361300
32Rhabdomyolysis (HP:0003201)3.65298100
33Atrioventricular block (HP:0001678)3.64149765
34Abnormal atrioventricular conduction (HP:0005150)3.57345944
35Acute necrotizing encephalopathy (HP:0006965)3.44677678
36Abnormal mitochondria in muscle tissue (HP:0008316)3.42536179
37Abnormal EKG (HP:0003115)3.32476118
38Increased connective tissue (HP:0009025)3.31247685
39Round ear (HP:0100830)3.22335125
40Hepatic necrosis (HP:0002605)3.22292564
41Left ventricular hypertrophy (HP:0001712)3.18604919
42Myotonia (HP:0002486)3.04606333
43Ragged-red muscle fibers (HP:0003200)2.97423199
44Distal lower limb amyotrophy (HP:0008944)2.95974460
45Acute encephalopathy (HP:0006846)2.90427184
46Ulnar deviation of the wrist (HP:0003049)2.89177033
47Frequent falls (HP:0002359)2.88704666
48Palmoplantar keratoderma (HP:0000982)2.86268877
49Progressive macrocephaly (HP:0004481)2.84472481
50Hepatocellular necrosis (HP:0001404)2.81237131
51Mitochondrial inheritance (HP:0001427)2.77573871
52Difficulty running (HP:0009046)2.74817195
53Distal lower limb muscle weakness (HP:0009053)2.73189784
54Conjunctival hamartoma (HP:0100780)2.69266928
55Increased CSF lactate (HP:0002490)2.65119486
56Hypoglycemic coma (HP:0001325)2.60913646
57Type 1 muscle fiber predominance (HP:0003803)2.59053532
58Ketoacidosis (HP:0001993)2.57647190
59Scapular winging (HP:0003691)2.55545586
60Cerebral edema (HP:0002181)2.55429600
61Exercise intolerance (HP:0003546)2.48785469
62Neck muscle weakness (HP:0000467)2.47921019
63Calcaneovalgus deformity (HP:0001848)2.42798439
64Pheochromocytoma (HP:0002666)2.42252621
65Double outlet right ventricle (HP:0001719)2.39349716
66Congenital malformation of the right heart (HP:0011723)2.39349716
67Progressive muscle weakness (HP:0003323)2.39138603
68Increased muscle lipid content (HP:0009058)2.35267195
69Areflexia of lower limbs (HP:0002522)2.35256086
70Difficulty climbing stairs (HP:0003551)2.34349384
71Dicarboxylic aciduria (HP:0003215)2.32764627
72Abnormality of dicarboxylic acid metabolism (HP:0010995)2.32764627
73Bulbar palsy (HP:0001283)2.32125991
74Neoplasm of the adrenal gland (HP:0100631)2.31551040
75Absent phalangeal crease (HP:0006109)2.27969782
76Muscle stiffness (HP:0003552)2.26488521
77Abnormality of fatty-acid metabolism (HP:0004359)2.26029831
78Lactic acidosis (HP:0003128)2.23722178
79Lower limb amyotrophy (HP:0007210)2.22273030
80Respiratory failure (HP:0002878)2.20551376
81Abnormality of the foot musculature (HP:0001436)2.19558700
82Neuroendocrine neoplasm (HP:0100634)2.18892340
83Centrally nucleated skeletal muscle fibers (HP:0003687)2.18643684
84Increased serum pyruvate (HP:0003542)2.15196760
85Abnormality of glycolysis (HP:0004366)2.15196760
86Muscular dystrophy (HP:0003560)2.15114038
87Sudden cardiac death (HP:0001645)2.14600829
88Increased intramyocellular lipid droplets (HP:0012240)2.13222878
89Deformed tarsal bones (HP:0008119)2.12083441
90Congestive heart failure (HP:0001635)2.10146235
91Gowers sign (HP:0003391)2.09914331
92Hip contracture (HP:0003273)2.08532531
93Limb-girdle muscle atrophy (HP:0003797)2.07355262
94Rimmed vacuoles (HP:0003805)2.07066247
95Hypoplastic left heart (HP:0004383)2.05403381
96Proximal amyotrophy (HP:0007126)2.05107659
97EMG: neuropathic changes (HP:0003445)2.03545080
98Hamartoma of the eye (HP:0010568)2.02894727
99Generalized muscle weakness (HP:0003324)2.02185035
100Increased variability in muscle fiber diameter (HP:0003557)2.02105282
101Abnormality of the shoulder girdle musculature (HP:0001435)2.01952646
102Weak cry (HP:0001612)1.95995907
103Muscle fiber inclusion bodies (HP:0100299)1.95513763
104Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)1.94643369
105Waddling gait (HP:0002515)1.93570623
106Mildly elevated creatine phosphokinase (HP:0008180)1.93227617
107Foot dorsiflexor weakness (HP:0009027)1.92319556
108Neoplasm of head and neck (HP:0012288)1.91807422
109Esophageal neoplasm (HP:0100751)1.91807422
110Testicular atrophy (HP:0000029)1.91152711
111Abnormality of skeletal muscle fiber size (HP:0012084)1.86363505
112Abnormality of alanine metabolism (HP:0010916)1.85979068
113Hyperalaninemia (HP:0003348)1.85979068
114Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.85979068
115Abnormal finger flexion creases (HP:0006143)1.83633261
116Generalized aminoaciduria (HP:0002909)1.83473446
117Malignant hyperthermia (HP:0002047)1.83363023
118Lipid accumulation in hepatocytes (HP:0006561)1.82639557
119Ketosis (HP:0001946)1.80651390
120Steppage gait (HP:0003376)1.79711299
121Tinnitus (HP:0000360)1.76356728
122Spinal rigidity (HP:0003306)1.74903300
123Diaphragmatic weakness (HP:0009113)1.74577743
124Patent foramen ovale (HP:0001655)1.74082403
125Pulmonary artery stenosis (HP:0004415)1.72549845
126Respiratory insufficiency due to muscle weakness (HP:0002747)1.72536930
127Abnormality of the tricuspid valve (HP:0001702)1.66321788
128Slender build (HP:0001533)1.64795147
129Hypoplastic heart (HP:0001961)1.61772945
130Fatigable weakness (HP:0003473)1.54987616
131Abnormality of the neuromuscular junction (HP:0003398)1.54987616
132Hyperkalemia (HP:0002153)1.54712543
133Dysmetric saccades (HP:0000641)1.50743042
134Limb-girdle muscle weakness (HP:0003325)1.48401201

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN5.98047996
2TTN5.15568663
3MYLK4.83129337
4LMTK23.59508377
5PKN23.51030380
6PHKG23.35710373
7PHKG13.35710373
8PDK33.19018360
9PDK43.19018360
10DMPK3.07224863
11STK242.89458641
12PIK3CA2.66218121
13TRIB32.40474661
14BCKDK2.30198603
15NEK12.28163229
16MUSK2.19358872
17TIE12.09244374
18PIK3CG2.04404250
19PDK21.86369367
20ZAK1.73087122
21PINK11.59109808
22STK38L1.56910433
23CDC42BPA1.52657008
24ILK1.47501125
25PAK31.43729171
26MARK11.31088268
27GRK71.26452805
28CAMK2D1.25247439
29PRKD11.25241893
30STK41.18508825
31ROCK11.12274013
32FLT31.10731387
33DAPK31.09849929
34TRPM71.07287658
35WNK41.03872423
36MAPK120.91162816
37MAP3K50.88961940
38MAP3K70.86916683
39MAP3K60.83508764
40PRKAA10.78803844
41MAP2K30.76896568
42RIPK10.76325524
43MAP3K30.74495640
44PKN10.74350600
45PRKAA20.73561895
46MAPKAPK30.73435522
47INSRR0.71513895
48EEF2K0.69937698
49PTK2B0.69415517
50CAMK40.68981596
51KDR0.65464489
52MAP2K40.64719595
53MAPK40.63179318
54CAMK10.62491566
55RPS6KL10.61984211
56RPS6KC10.61984211
57STK380.61888489
58ROCK20.61210249
59EPHA30.60368601
60CAMK2A0.59330878
61WNK10.56070086
62PDGFRA0.55371380
63CAMK2B0.54386868
64PRKD30.54348424
65RPS6KA60.52719460
66PRKACB0.51733917
67STK390.48641410
68NME20.47811620
69DYRK1B0.47313536
70LIMK10.46617991
71MAP2K10.46179473
72MOS0.43569136
73PRKCE0.43337000
74TGFBR20.41688157
75ERBB30.38994016
76PRKACA0.38658427
77KSR20.38300612
78MAP2K60.38213402
79CCNB10.38007448
80AKT20.37349974
81NEK90.37098757
82PRKG20.34845165
83PRKACG0.34038156
84CAMK2G0.31803362
85ICK0.26325850
86PRKCH0.24645334
87EPHB20.24137254
88PDPK10.23657168
89MAP3K100.23167775
90MAPK100.23156931
91PTK60.22973138
92SGK20.22683163
93PRKG10.22563414
94MARK30.22192974
95PDK10.22066109
96RPS6KA10.21966150
97LATS20.20658460
98LATS10.18094164
99ZAP700.17608930
100RPS6KB20.16962351
101PRPF4B0.16059885
102MARK20.15770322
103EPHB10.15566532
104NLK0.14321438
105STK110.13619232
106LRRK20.11961481
107ITK0.11960735
108RPS6KA20.11720379
109MAPKAPK20.11406084
110TBK10.11029599
111NME10.11018483
112MTOR0.10974549
113MAP3K130.10671464
114MAP3K10.10557250
115SGK30.10520783
116PAK20.10359291
117PRKCQ0.10327832
118RPS6KA30.08958383
119FGFR30.08742866
120SGK2230.08644802
121RET0.08421533
122FER0.08077313
123UHMK10.07379030
124SGK10.07014224
125SIK10.06587187
126FGFR10.06507083
127MAPK70.06267825
128CDK40.05230387
129MAPK110.05162065

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000206.13472628
2* Cardiac muscle contraction_Homo sapiens_hsa042604.77001064
32-Oxocarboxylic acid metabolism_Homo sapiens_hsa012104.26931901
4Parkinsons disease_Homo sapiens_hsa050123.79236764
5* Dilated cardiomyopathy_Homo sapiens_hsa054143.75631354
6* Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054103.69673676
7Oxidative phosphorylation_Homo sapiens_hsa001903.67866471
8Propanoate metabolism_Homo sapiens_hsa006403.05722644
9Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.95025746
10Alzheimers disease_Homo sapiens_hsa050102.71890054
11Fatty acid degradation_Homo sapiens_hsa000712.64376253
12Carbon metabolism_Homo sapiens_hsa012002.59438948
13Huntingtons disease_Homo sapiens_hsa050162.45073929
14Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.44913007
15Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.35996696
16Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.06625719
17Fatty acid metabolism_Homo sapiens_hsa012121.97009194
18Pyruvate metabolism_Homo sapiens_hsa006201.81208888
19* Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.77232258
20Viral myocarditis_Homo sapiens_hsa054161.67248313
21Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.54751288
22Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.51513646
23Biosynthesis of amino acids_Homo sapiens_hsa012301.30918392
24Fatty acid elongation_Homo sapiens_hsa000621.21626366
25Butanoate metabolism_Homo sapiens_hsa006501.19680011
26Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.09101870
27cGMP-PKG signaling pathway_Homo sapiens_hsa040221.05487691
28Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.00738582
29Glucagon signaling pathway_Homo sapiens_hsa049220.97384441
30Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.95456907
31Starch and sucrose metabolism_Homo sapiens_hsa005000.94488008
32Insulin resistance_Homo sapiens_hsa049310.91342020
33PPAR signaling pathway_Homo sapiens_hsa033200.86506198
34HIF-1 signaling pathway_Homo sapiens_hsa040660.83614703
35Adipocytokine signaling pathway_Homo sapiens_hsa049200.77546381
36Insulin signaling pathway_Homo sapiens_hsa049100.73532062
37Galactose metabolism_Homo sapiens_hsa000520.73211292
38Focal adhesion_Homo sapiens_hsa045100.70326793
39Lysine degradation_Homo sapiens_hsa003100.67956939
40Tryptophan metabolism_Homo sapiens_hsa003800.67763089
41Tight junction_Homo sapiens_hsa045300.66971613
42Calcium signaling pathway_Homo sapiens_hsa040200.65981187
43Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.64015962
44Central carbon metabolism in cancer_Homo sapiens_hsa052300.62684363
45beta-Alanine metabolism_Homo sapiens_hsa004100.59123655
46Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.58728711
47Fructose and mannose metabolism_Homo sapiens_hsa000510.58497493
48Vascular smooth muscle contraction_Homo sapiens_hsa042700.57551456
49Phenylalanine metabolism_Homo sapiens_hsa003600.56224314
50Arginine biosynthesis_Homo sapiens_hsa002200.53690621
51Arginine and proline metabolism_Homo sapiens_hsa003300.53616446
52AMPK signaling pathway_Homo sapiens_hsa041520.52837211
53Oxytocin signaling pathway_Homo sapiens_hsa049210.52258995
54Type II diabetes mellitus_Homo sapiens_hsa049300.50274812
55Peroxisome_Homo sapiens_hsa041460.45718155
56Thyroid hormone signaling pathway_Homo sapiens_hsa049190.44689815
57Long-term potentiation_Homo sapiens_hsa047200.44133975
58Salivary secretion_Homo sapiens_hsa049700.39879252
59ECM-receptor interaction_Homo sapiens_hsa045120.38914486
60Adherens junction_Homo sapiens_hsa045200.35100339
61cAMP signaling pathway_Homo sapiens_hsa040240.33983711
62Metabolic pathways_Homo sapiens_hsa011000.32325699
63Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.31658565
64Amphetamine addiction_Homo sapiens_hsa050310.31035719
65Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.30943710
66Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.30262685
67Fatty acid biosynthesis_Homo sapiens_hsa000610.29654651
68Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.27942739
69Longevity regulating pathway - mammal_Homo sapiens_hsa042110.27859800
70Renin secretion_Homo sapiens_hsa049240.27526271
71Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.27117386
72Cysteine and methionine metabolism_Homo sapiens_hsa002700.25962400
73Insulin secretion_Homo sapiens_hsa049110.23801506
74Leukocyte transendothelial migration_Homo sapiens_hsa046700.23634952
75Regulation of autophagy_Homo sapiens_hsa041400.23275864
76MAPK signaling pathway_Homo sapiens_hsa040100.23045312
77Amoebiasis_Homo sapiens_hsa051460.22485223
78GABAergic synapse_Homo sapiens_hsa047270.22242195
79Tyrosine metabolism_Homo sapiens_hsa003500.21758900
80Gastric acid secretion_Homo sapiens_hsa049710.19041537
81Sulfur relay system_Homo sapiens_hsa041220.18557321
82Circadian entrainment_Homo sapiens_hsa047130.18265827
83Regulation of actin cytoskeleton_Homo sapiens_hsa048100.18037581
84Proteoglycans in cancer_Homo sapiens_hsa052050.15121698
85Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.14266924
86Prion diseases_Homo sapiens_hsa050200.13022815
87Nitrogen metabolism_Homo sapiens_hsa009100.12404750
88Aldosterone synthesis and secretion_Homo sapiens_hsa049250.12049103
89Circadian rhythm_Homo sapiens_hsa047100.11915661
90Morphine addiction_Homo sapiens_hsa050320.11887892
91Glycerophospholipid metabolism_Homo sapiens_hsa005640.08991509
92Endometrial cancer_Homo sapiens_hsa052130.07131475
93Ovarian steroidogenesis_Homo sapiens_hsa049130.06923157
94Renal cell carcinoma_Homo sapiens_hsa052110.06508174
95Platelet activation_Homo sapiens_hsa046110.06366889
96Fat digestion and absorption_Homo sapiens_hsa049750.05612392
97Pentose phosphate pathway_Homo sapiens_hsa000300.04728244
98mTOR signaling pathway_Homo sapiens_hsa041500.01985999
99Small cell lung cancer_Homo sapiens_hsa052220.01959035
100Gap junction_Homo sapiens_hsa045400.01495324
101Melanogenesis_Homo sapiens_hsa04916-0.0606246
102Taste transduction_Homo sapiens_hsa04742-0.0561892
103Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860-0.0561672
104Notch signaling pathway_Homo sapiens_hsa04330-0.0504722
105AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933-0.0401362
106VEGF signaling pathway_Homo sapiens_hsa04370-0.0389655
107Toxoplasmosis_Homo sapiens_hsa05145-0.0332987
108Bile secretion_Homo sapiens_hsa04976-0.0326055
109Pancreatic secretion_Homo sapiens_hsa04972-0.0313127
110PI3K-Akt signaling pathway_Homo sapiens_hsa04151-0.0300007
111Cholinergic synapse_Homo sapiens_hsa04725-0.0289181
112GnRH signaling pathway_Homo sapiens_hsa04912-0.0274575
113FoxO signaling pathway_Homo sapiens_hsa04068-0.0174366
114Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961-0.0025486
115Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962-0.0013286

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