MYBPC3

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: MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3, the cardiac isoform, is expressed exclussively in heart muscle. Regulatory phosphorylation of the cardiac isoform in vivo by cAMP-dependent protein kinase (PKA) upon adrenergic stimulation may be linked to modulation of cardiac contraction. Mutations in MYBPC3 are one cause of familial hypertrophic cardiomyopathy. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1cardiac myofibril assembly (GO:0055003)9.49738757
2* sarcomere organization (GO:0045214)9.20276410
3negative regulation of potassium ion transmembrane transporter activity (GO:1901017)8.23242203
4myofibril assembly (GO:0030239)8.21121469
5negative regulation of potassium ion transmembrane transport (GO:1901380)7.57084902
6regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO7.10162572
7cardiac muscle cell development (GO:0055013)6.95012664
8* cardiac muscle contraction (GO:0060048)6.82055220
9positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)6.54744246
10cardiac cell development (GO:0055006)6.53361927
11adult heart development (GO:0007512)6.47590978
12regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)6.47520320
13tricarboxylic acid cycle (GO:0006099)6.39640894
14* muscle filament sliding (GO:0030049)6.36881314
15* actin-myosin filament sliding (GO:0033275)6.36881314
16regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)6.26003760
17ventricular cardiac muscle cell action potential (GO:0086005)6.18799659
18bundle of His cell to Purkinje myocyte communication (GO:0086069)6.16927576
19cardiac muscle hypertrophy (GO:0003300)6.14545727
20* cardiac muscle tissue morphogenesis (GO:0055008)6.10391649
21* ventricular cardiac muscle tissue morphogenesis (GO:0055010)6.01835173
22regulation of relaxation of muscle (GO:1901077)6.00351593
23* actomyosin structure organization (GO:0031032)5.80641885
24regulation of sarcomere organization (GO:0060297)5.79848379
25striated muscle hypertrophy (GO:0014897)5.79817828
26plasma membrane repair (GO:0001778)5.79430436
27regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)5.75645198
28heart trabecula formation (GO:0060347)5.60587070
29detection of calcium ion (GO:0005513)5.54658365
30cell communication by electrical coupling involved in cardiac conduction (GO:0086064)5.41542593
31* muscle tissue morphogenesis (GO:0060415)5.39336909
32regulation of the force of heart contraction (GO:0002026)5.38904068
33* regulation of actin filament-based movement (GO:1903115)5.26498727
34* actin-mediated cell contraction (GO:0070252)5.26446141
35heart process (GO:0003015)5.23227736
36heart contraction (GO:0060047)5.23227736
37cardiac ventricle formation (GO:0003211)5.15506955
38cell communication involved in cardiac conduction (GO:0086065)5.15102356
39muscle hypertrophy (GO:0014896)5.14941021
40* striated muscle contraction (GO:0006941)5.04357768
41regulation of skeletal muscle contraction (GO:0014819)5.02371307
42carnitine shuttle (GO:0006853)5.00378781
43regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)5.00010910
44* regulation of striated muscle contraction (GO:0006942)4.87907345
45regulation of membrane repolarization (GO:0060306)4.87562119
46regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)4.85464607
47negative regulation of cardiac muscle cell apoptotic process (GO:0010667)4.76045128
48cellular response to epinephrine stimulus (GO:0071872)4.72488255
49regulation of cell communication by electrical coupling (GO:0010649)4.68002693
50cell communication by electrical coupling (GO:0010644)4.66900787
51atrial septum morphogenesis (GO:0060413)4.59808992
52regulation of acyl-CoA biosynthetic process (GO:0050812)4.54669525
53regulation of cardiac muscle cell contraction (GO:0086004)4.54493293
54regulation of cardiac muscle contraction (GO:0055117)4.49504270
55response to epinephrine (GO:0071871)4.48975016
56mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.43244237
57cardiac muscle adaptation (GO:0014887)4.42240867
58cardiac muscle hypertrophy in response to stress (GO:0014898)4.42240867
59muscle hypertrophy in response to stress (GO:0003299)4.42240867
60regulation of cardioblast differentiation (GO:0051890)4.41309301
61negative regulation of striated muscle cell apoptotic process (GO:0010664)4.37915083
62fatty acid transmembrane transport (GO:1902001)4.31373223
63cardiac muscle cell action potential involved in contraction (GO:0086002)4.30327945
64adrenergic receptor signaling pathway (GO:0071875)4.29932711
65sarcoplasmic reticulum calcium ion transport (GO:0070296)4.28496159
66cardiac muscle cell action potential (GO:0086001)4.25987020
67ventricular cardiac muscle cell development (GO:0055015)4.22623886
68relaxation of cardiac muscle (GO:0055119)4.21017611
69regulation of cofactor metabolic process (GO:0051193)4.16589607
70regulation of coenzyme metabolic process (GO:0051196)4.16589607
71negative regulation of potassium ion transport (GO:0043267)4.14827051
72membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.14492306
73negative regulation of protein localization to cell surface (GO:2000009)4.12522935
74energy coupled proton transport, down electrochemical gradient (GO:0015985)4.11551366
75ATP synthesis coupled proton transport (GO:0015986)4.11551366
76* regulation of heart rate (GO:0002027)4.09551760
77cardiac muscle tissue development (GO:0048738)4.03326297
78positive regulation of action potential (GO:0045760)4.02342503
79neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)3.98535325
80* actin filament-based movement (GO:0030048)3.95445508
81positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.93475156
82response to stimulus involved in regulation of muscle adaptation (GO:0014874)3.92032461
83positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.88408631
84* regulation of heart contraction (GO:0008016)3.86972991
85response to caffeine (GO:0031000)3.83400002
86cardiac conduction (GO:0061337)3.81430884
87regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.80580003
88NADH metabolic process (GO:0006734)3.77112440
89respiratory electron transport chain (GO:0022904)3.74713375
90oxygen transport (GO:0015671)3.74471048
91mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.74052231
92regulation of heart rate by cardiac conduction (GO:0086091)3.72888248
932-oxoglutarate metabolic process (GO:0006103)3.71861357
94* regulation of muscle contraction (GO:0006937)3.71635794
95striated muscle cell development (GO:0055002)3.71590519
96oxidative phosphorylation (GO:0006119)3.71298375
97* positive regulation of ATPase activity (GO:0032781)3.69206759
98* positive regulation of ATP catabolic process (GO:1903291)3.69206759
99carnitine transmembrane transport (GO:1902603)3.68387198
100atrioventricular valve morphogenesis (GO:0003181)3.67932625
101calcium-mediated signaling using intracellular calcium source (GO:0035584)3.64033526
102electron transport chain (GO:0022900)3.63334913
103trabecula formation (GO:0060343)3.62466230
104* regulation of ATP catabolic process (GO:1903289)3.60963162
105* regulation of ATPase activity (GO:0043462)3.60963162
106response to inactivity (GO:0014854)3.60775244
107* muscle contraction (GO:0006936)3.60684662
108positive regulation of heart contraction (GO:0045823)3.54208437
109negative regulation of cytosolic calcium ion concentration (GO:0051481)3.53624822
110striated muscle adaptation (GO:0014888)3.53222459
111positive regulation of heart rate (GO:0010460)3.52876343
112regulation of striated muscle cell apoptotic process (GO:0010662)3.47779386
113positive regulation of cation channel activity (GO:2001259)3.43863770
114regulation of sulfur metabolic process (GO:0042762)3.37994802
115potassium ion export (GO:0071435)3.37836849
116cardiac chamber formation (GO:0003207)3.36481379
117* muscle system process (GO:0003012)3.35132274
118carnitine transport (GO:0015879)3.34826940
119amino-acid betaine transport (GO:0015838)3.34826940
120outflow tract septum morphogenesis (GO:0003148)3.33587225
121* regulation of muscle system process (GO:0090257)3.33144573
122creatine metabolic process (GO:0006600)3.32355875
123negative regulation of myotube differentiation (GO:0010832)3.31967950
124regulation of calcium ion transmembrane transport (GO:1903169)3.26819934
125regulation of calcium ion transmembrane transporter activity (GO:1901019)3.26819934

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1PPARG_19300518_ChIP-PET_3T3-L1_Mouse6.63404703
2EP300_21415370_ChIP-Seq_HL-1_Mouse5.58103051
3ESRRB_18555785_ChIP-Seq_MESCs_Mouse4.46475883
4* TBX20_22328084_ChIP-Seq_HEART_Mouse4.32893774
5* TBX20_22080862_ChIP-Seq_HEART_Mouse4.32893774
6RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse4.06368313
7TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.61992879
8MEF2A_21415370_ChIP-Seq_HL-1_Mouse3.47271969
9ZNF263_19887448_ChIP-Seq_K562_Human3.27461261
10ESR1_20079471_ChIP-ChIP_T-47D_Human3.12375202
11CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.92843443
12RARG_19884340_ChIP-ChIP_MEFs_Mouse2.60137076
13EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.55194923
14* GATA4_21415370_ChIP-Seq_HL-1_Mouse2.54058103
15EZH2_22144423_ChIP-Seq_EOC_Human2.20811794
16THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.07362949
17NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.06545984
18CDX2_19796622_ChIP-Seq_MESCs_Mouse1.95640463
19PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.92286725
20NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.90106608
21ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.86702761
22BP1_19119308_ChIP-ChIP_Hs578T_Human1.82410100
23ESR2_21235772_ChIP-Seq_MCF-7_Human1.72317884
24CLOCK_20551151_ChIP-Seq_293T_Human1.70291661
25PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.63696127
26TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.63660995
27VDR_22108803_ChIP-Seq_LS180_Human1.62985432
28PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.60626424
29KDM2B_26808549_Chip-Seq_SUP-B15_Human1.54794817
30PCGF2_27294783_Chip-Seq_NPCs_Mouse1.54774565
31NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.54269455
32TRIM28_21343339_ChIP-Seq_HEK293_Human1.49563132
33GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.45757676
34FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.41287288
35ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.39916794
36ISL1_27105846_Chip-Seq_CPCs_Mouse1.35733667
37WT1_19549856_ChIP-ChIP_CCG9911_Human1.32050895
38GATA2_21666600_ChIP-Seq_HMVEC_Human1.31453854
39TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.30047065
40GATA1_19941826_ChIP-Seq_K562_Human1.29929022
41ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.29834056
42* CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.27543470
43SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.27511751
44NFIB_24661679_ChIP-Seq_LUNG_Mouse1.27346348
45DROSHA_22980978_ChIP-Seq_HELA_Human1.26934166
46KDM2B_26808549_Chip-Seq_DND41_Human1.25951070
47RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.22141874
48LXR_22158963_ChIP-Seq_LIVER_Mouse1.21533579
49EZH2_27304074_Chip-Seq_ESCs_Mouse1.20640869
50PPAR_26484153_Chip-Seq_NCI-H1993_Human1.20457506
51TP63_22573176_ChIP-Seq_HFKS_Human1.18500396
52PPARA_22158963_ChIP-Seq_LIVER_Mouse1.17735605
53BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.16542372
54ELK3_25401928_ChIP-Seq_HUVEC_Human1.15058011
55GATA1_22025678_ChIP-Seq_K562_Human1.13223786
56TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.12995087
57* CTCF_27219007_Chip-Seq_Bcells_Human1.09399324
58SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.08790411
59RNF2_18974828_ChIP-Seq_MESCs_Mouse1.08313903
60EZH2_18974828_ChIP-Seq_MESCs_Mouse1.08313903
61* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.06586530
62EZH2_27294783_Chip-Seq_ESCs_Mouse1.06559766
63SALL4_18804426_ChIP-ChIP_XEN_Mouse1.06017698
64PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.05935017
65NR3C1_23031785_ChIP-Seq_PC12_Mouse1.05238063
66HIF1A_21447827_ChIP-Seq_MCF-7_Human1.04688746
67NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.03591700
68CTNNB1_20460455_ChIP-Seq_HCT116_Human1.01927082
69TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.01645435
70SOX9_24532713_ChIP-Seq_HFSC_Mouse1.00924539
71* LXR_22292898_ChIP-Seq_THP-1_Human0.99855348
72GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.99392101
73ZFP281_18757296_ChIP-ChIP_E14_Mouse0.97452735
74* RUNX1_27514584_Chip-Seq_MCF-7_Human0.97103120
75SMAD4_21799915_ChIP-Seq_A2780_Human0.96961516
76MTF2_20144788_ChIP-Seq_MESCs_Mouse0.96821091
77PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.94003848
78KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.93650229
79DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.93462062
80GF1_26923725_Chip-Seq_HPCs_Mouse0.93275412
81SMAD3_21741376_ChIP-Seq_HESCs_Human0.92995968
82GATA2_19941826_ChIP-Seq_K562_Human0.92883081
83* RACK7_27058665_Chip-Seq_MCF-7_Human0.92567468
84TP53_16413492_ChIP-PET_HCT116_Human0.92465235
85* ATF3_27146783_Chip-Seq_COLON_Human0.91854511
86TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.91787862
87FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.91699711
88SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.90932292
89* FOXA2_19822575_ChIP-Seq_HepG2_Human0.90412994
90GATA1_19941827_ChIP-Seq_MEL_Mouse0.89930039
91STAT3_1855785_ChIP-Seq_MESCs_Mouse0.89762324
92* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.89432622
93SPI1_23127762_ChIP-Seq_K562_Human0.88887418
94TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.88295404
95STAT3_18555785_ChIP-Seq_MESCs_Mouse0.87450870
96WT1_25993318_ChIP-Seq_PODOCYTE_Human0.87397985
97EED_16625203_ChIP-ChIP_MESCs_Mouse0.87118653
98* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.86345002
99P68_20966046_ChIP-Seq_HELA_Human0.85553212
100* SPI1_20517297_ChIP-Seq_HL60_Human0.85236940
101SMAD4_21741376_ChIP-Seq_HESCs_Human0.84697471
102DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.84149005
103AUTS2_25519132_ChIP-Seq_293T-REX_Human0.83823072
104RXR_22158963_ChIP-Seq_LIVER_Mouse0.83479143
105SUZ12_27294783_Chip-Seq_NPCs_Mouse0.83395260
106GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.83100502
107* SMC3_22415368_ChIP-Seq_MEFs_Mouse0.82490115
108TBL1_22424771_ChIP-Seq_293T_Human0.82363531
109ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.81513833
110LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.81512057
111* TP53_23651856_ChIP-Seq_MEFs_Mouse0.81093063
112TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.80964144
113* GATA1_19941827_ChIP-Seq_MEL86_Mouse0.80941167
114SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.80570202
115CJUN_26792858_Chip-Seq_BT549_Human0.79873876
116CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.79603823
117LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.78728464
118GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.78603311
119GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.78319687
120SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.77741288
121MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.77628651
122NR3C1_21868756_ChIP-Seq_MCF10A_Human0.77621357
123BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.76773141
124ZNF217_24962896_ChIP-Seq_MCF-7_Human0.76733350
125STAT6_20620947_ChIP-Seq_CD4_POS_T_Human0.76610998
126NFE2_27457419_Chip-Seq_LIVER_Mouse0.76393139
127KDM2B_26808549_Chip-Seq_K562_Human0.76163900
128OCT4_20526341_ChIP-Seq_ESCs_Human0.75739557
129TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.74756338
130MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.74601188
131TCF4_23295773_ChIP-Seq_U87_Human0.74069254
132SOX2_21211035_ChIP-Seq_LN229_Gbm0.74069102
133RARB_27405468_Chip-Seq_BRAIN_Mouse0.72432685
134* UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.72202557
135ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.70838027
136SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.70239983
137BCAT_22108803_ChIP-Seq_LS180_Human0.69841653

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1* MP0004084_abnormal_cardiac_muscle6.01323084
2* MP0002837_dystrophic_cardiac_calcinosis5.83336014
3MP0003646_muscle_fatigue5.44269317
4MP0000751_myopathy5.13628152
5* MP0004215_abnormal_myocardial_fiber5.00559646
6* MP0004036_abnormal_muscle_relaxation4.16529644
7* MP0005330_cardiomyopathy4.05641675
8MP0000749_muscle_degeneration3.73781709
9MP0008775_abnormal_heart_ventricle3.45354192
10* MP0002972_abnormal_cardiac_muscle3.42849765
11MP0003137_abnormal_impulse_conducting3.27973247
12* MP0004087_abnormal_muscle_fiber3.09036071
13* MP0005385_cardiovascular_system_phenoty2.83879613
14* MP0001544_abnormal_cardiovascular_syste2.83879613
15* MP0010630_abnormal_cardiac_muscle2.83600643
16MP0006138_congestive_heart_failure2.80126237
17MP0000750_abnormal_muscle_regeneration2.71885259
18* MP0005620_abnormal_muscle_contractility2.69674016
19MP0003828_pulmonary_edema2.66025319
20MP0004484_altered_response_of2.54098408
21MP0004085_abnormal_heartbeat2.45579749
22MP0002106_abnormal_muscle_physiology2.41481175
23MP0004130_abnormal_muscle_cell2.32206020
24MP0004510_myositis2.26986773
25MP0002269_muscular_atrophy2.20083015
26MP0003221_abnormal_cardiomyocyte_apopto2.16143466
27MP0005369_muscle_phenotype1.93062257
28MP0002127_abnormal_cardiovascular_syste1.92808341
29MP0000759_abnormal_skeletal_muscle1.77492482
30MP0004145_abnormal_muscle_electrophysio1.74326242
31MP0003950_abnormal_plasma_membrane1.73439806
32MP0000747_muscle_weakness1.70317273
33MP0004233_abnormal_muscle_weight1.61887031
34MP0006036_abnormal_mitochondrial_physio1.59809155
35MP0003567_abnormal_fetal_cardiomyocyte1.54773107
36MP0008004_abnormal_stomach_pH1.42425504
37MP0010368_abnormal_lymphatic_system1.39283350
38MP0003279_aneurysm1.35659588
39MP0005666_abnormal_adipose_tissue1.31833666
40MP0002332_abnormal_exercise_endurance1.31042981
41* MP0000266_abnormal_heart_morphology1.26068769
42MP0000343_altered_response_to1.23307418
43MP0005670_abnormal_white_adipose1.22994121
44MP0005165_increased_susceptibility_to1.15878210
45MP0002234_abnormal_pharynx_morphology1.13742500
46MP0006035_abnormal_mitochondrial_morpho0.98923822
47MP0005623_abnormal_meninges_morphology0.97459640
48MP0003566_abnormal_cell_adhesion0.96099916
49* MP0002128_abnormal_blood_circulation0.88708511
50MP0005451_abnormal_body_composition0.88550261
51MP0005375_adipose_tissue_phenotype0.86777063
52MP0000230_abnormal_systemic_arterial0.85882466
53MP0003705_abnormal_hypodermis_morpholog0.82831262
54MP0004185_abnormal_adipocyte_glucose0.81418572
55MP0000767_abnormal_smooth_muscle0.80024317
56MP0004272_abnormal_basement_membrane0.79825920
57MP0005266_abnormal_metabolism0.78140986
58MP0001879_abnormal_lymphatic_vessel0.75190140
59MP0002108_abnormal_muscle_morphology0.69362673
60MP0001661_extended_life_span0.66038612
61MP0008438_abnormal_cutaneous_collagen0.64999407
62MP0002909_abnormal_adrenal_gland0.63200161
63MP0003806_abnormal_nucleotide_metabolis0.59011904
64MP0002925_abnormal_cardiovascular_devel0.58414598
65MP0005187_abnormal_penis_morphology0.55907653
66MP0005503_abnormal_tendon_morphology0.54907356
67MP0003984_embryonic_growth_retardation0.54350858
68MP0002088_abnormal_embryonic_growth/wei0.53351842
69MP0000003_abnormal_adipose_tissue0.49681841
70MP0009384_cardiac_valve_regurgitation0.49236089
71MP0005319_abnormal_enzyme/_coenzyme0.45982916
72MP0004043_abnormal_pH_regulation0.45786196
73MP0001614_abnormal_blood_vessel0.45659929
74MP0001784_abnormal_fluid_regulation0.45634499
75MP0000733_abnormal_muscle_development0.44886305
76MP0001984_abnormal_olfaction0.43802277
77MP0005275_abnormal_skin_tensile0.43484344
78MP0000013_abnormal_adipose_tissue0.41968482
79MP0002254_reproductive_system_inflammat0.40714140
80MP0002078_abnormal_glucose_homeostasis0.39975232
81MP0004147_increased_porphyrin_level0.37003733
82MP0005409_darkened_coat_color0.34871798
83MP0002971_abnormal_brown_adipose0.34489280
84MP0005595_abnormal_vascular_smooth0.33965381
85MP0008961_abnormal_basal_metabolism0.33826150
86MP0008569_lethality_at_weaning0.33166652
87MP0001958_emphysema0.33149467
88MP0003948_abnormal_gas_homeostasis0.32588859
89MP0006072_abnormal_retinal_apoptosis0.32204020
90MP0001672_abnormal_embryogenesis/_devel0.31144094
91MP0005380_embryogenesis_phenotype0.31144094
92MP0002090_abnormal_vision0.29888288
93MP0005167_abnormal_blood-brain_barrier0.29622021
94MP0008874_decreased_physiological_sensi0.28312381
95MP0004924_abnormal_behavior0.27878870
96MP0005386_behavior/neurological_phenoty0.27878870
97MP0002133_abnormal_respiratory_system0.27481750
98MP0005388_respiratory_system_phenotype0.27481750
99MP0005535_abnormal_body_temperature0.27211893
100MP0001727_abnormal_embryo_implantation0.26119426
101MP0002295_abnormal_pulmonary_circulatio0.25994053
102MP0000249_abnormal_blood_vessel0.24673509
103MP0009115_abnormal_fat_cell0.23442357
104MP0009840_abnormal_foam_cell0.22424708
105MP0003878_abnormal_ear_physiology0.22296420
106MP0005377_hearing/vestibular/ear_phenot0.22296420
107MP0009763_increased_sensitivity_to0.20132376
108MP0002118_abnormal_lipid_homeostasis0.17990392
109MP0009780_abnormal_chondrocyte_physiolo0.17959870
110MP0003941_abnormal_skin_development0.17651544
111MP0003634_abnormal_glial_cell0.17494706
112MP0003045_fibrosis0.16883006
113MP0005584_abnormal_enzyme/coenzyme_acti0.16569069
114MP0005334_abnormal_fat_pad0.16452603
115MP0000579_abnormal_nail_morphology0.15002317

Predicted human phenotypes

RankGene SetZ-score
1Sudden death (HP:0001699)9.12624845
2Ventricular tachycardia (HP:0004756)7.54356574
3Atrial fibrillation (HP:0005110)6.77946348
4Primary atrial arrhythmia (HP:0001692)6.34157180
5Supraventricular tachycardia (HP:0004755)6.13699115
6Calf muscle hypertrophy (HP:0008981)6.06455967
7Supraventricular arrhythmia (HP:0005115)6.02752886
8Subaortic stenosis (HP:0001682)5.68468137
9Abnormality of the left ventricular outflow tract (HP:0011103)5.68468137
10* Lipoatrophy (HP:0100578)5.67768136
11Right ventricular cardiomyopathy (HP:0011663)5.52825324
12Muscle fiber splitting (HP:0003555)5.50744297
13Syncope (HP:0001279)5.43442481
14Abnormality of the calf musculature (HP:0001430)5.38829321
15Muscle hypertrophy of the lower extremities (HP:0008968)5.38811636
16Exercise-induced muscle cramps (HP:0003710)5.35527833
17Exercise-induced myalgia (HP:0003738)5.01858036
18Prolonged QT interval (HP:0001657)4.82172083
19Bundle branch block (HP:0011710)4.81918273
20Palpitations (HP:0001962)4.78696870
21Hyporeflexia of lower limbs (HP:0002600)4.78327905
22* Dilated cardiomyopathy (HP:0001644)4.62574483
23Ventricular arrhythmia (HP:0004308)4.55150791
24Myoglobinuria (HP:0002913)4.36318512
25Asymmetric septal hypertrophy (HP:0001670)4.31174189
26Ventricular fibrillation (HP:0001663)4.27402376
27EMG: myopathic abnormalities (HP:0003458)4.05548342
28Heart block (HP:0012722)4.04921940
29Atrioventricular block (HP:0001678)4.04830451
30Abnormal atrioventricular conduction (HP:0005150)3.81755321
31Increased connective tissue (HP:0009025)3.64085053
32Abnormal EKG (HP:0003115)3.46848528
33Rhabdomyolysis (HP:0003201)3.28810832
34Left ventricular hypertrophy (HP:0001712)3.15584886
35Myotonia (HP:0002486)3.12028348
36Difficulty running (HP:0009046)2.91952923
37Hepatic necrosis (HP:0002605)2.86590142
38Abnormal mitochondria in muscle tissue (HP:0008316)2.85760416
39Ragged-red muscle fibers (HP:0003200)2.82097870
40Acute necrotizing encephalopathy (HP:0006965)2.80788719
41* Palmoplantar keratoderma (HP:0000982)2.78779153
42Ketoacidosis (HP:0001993)2.70281871
43Bradycardia (HP:0001662)2.69901573
44Difficulty climbing stairs (HP:0003551)2.66627031
45Hypoglycemic coma (HP:0001325)2.60765935
46Hepatocellular necrosis (HP:0001404)2.47169640
47Rimmed vacuoles (HP:0003805)2.42393625
48Conjunctival hamartoma (HP:0100780)2.42031815
49Sudden cardiac death (HP:0001645)2.40724717
50Acute encephalopathy (HP:0006846)2.39649440
51Distal lower limb muscle weakness (HP:0009053)2.36783570
52Progressive macrocephaly (HP:0004481)2.31012557
53Testicular atrophy (HP:0000029)2.30969207
54Abnormality of fatty-acid metabolism (HP:0004359)2.30788831
55Mitochondrial inheritance (HP:0001427)2.29171665
56Abnormality of dicarboxylic acid metabolism (HP:0010995)2.28055627
57Dicarboxylic aciduria (HP:0003215)2.28055627
58Hypoplastic heart (HP:0001961)2.27292452
59Limb-girdle muscle atrophy (HP:0003797)2.27035780
60Abnormality of the foot musculature (HP:0001436)2.25658180
61Cerebral edema (HP:0002181)2.23563630
62Increased muscle lipid content (HP:0009058)2.21872940
63Neck muscle weakness (HP:0000467)2.21086265
64Congestive heart failure (HP:0001635)2.18557649
65Increased CSF lactate (HP:0002490)2.18455359
66Pheochromocytoma (HP:0002666)2.16801279
67Increased variability in muscle fiber diameter (HP:0003557)2.14212604
68Congenital malformation of the right heart (HP:0011723)2.12452172
69Double outlet right ventricle (HP:0001719)2.12452172
70Resting tremor (HP:0002322)2.09798114
71Neoplasm of the adrenal gland (HP:0100631)2.09207403
72Areflexia of lower limbs (HP:0002522)2.08456269
73Abnormality of the endocardium (HP:0004306)2.08363883
74Mildly elevated creatine phosphokinase (HP:0008180)2.08056542
75Dysmetric saccades (HP:0000641)2.06390933
76Exercise intolerance (HP:0003546)2.00047716
77Hamartoma of the eye (HP:0010568)1.98790746
78Foot dorsiflexor weakness (HP:0009027)1.97010959
79Lactic acidosis (HP:0003128)1.96350223
80Respiratory failure (HP:0002878)1.96040523
81EMG: neuropathic changes (HP:0003445)1.94740435
82Steppage gait (HP:0003376)1.94677485
83Skin nodule (HP:0200036)1.94135809
84Muscle stiffness (HP:0003552)1.94093656
85Increased intramyocellular lipid droplets (HP:0012240)1.93626167
86Type 1 muscle fiber predominance (HP:0003803)1.92549699
87Ketosis (HP:0001946)1.91875492
88Neuroendocrine neoplasm (HP:0100634)1.91610393
89Centrally nucleated skeletal muscle fibers (HP:0003687)1.91587441
90Pulmonary artery stenosis (HP:0004415)1.91545059
91Lymphangioma (HP:0100764)1.91031474
92Large for gestational age (HP:0001520)1.90254819
93Frequent falls (HP:0002359)1.90203132
94Hyperinsulinemic hypoglycemia (HP:0000825)1.88271570
95Distal lower limb amyotrophy (HP:0008944)1.87046642
96Abnormality of the tricuspid valve (HP:0001702)1.86807446
97Neoplasm of head and neck (HP:0012288)1.86713031
98Esophageal neoplasm (HP:0100751)1.86713031
99Abnormality of skeletal muscle fiber size (HP:0012084)1.85385461
100Hypoplastic left heart (HP:0004383)1.83744374
101Broad metatarsal (HP:0001783)1.82185187
102Hypoplastic ischia (HP:0003175)1.81511408
103Generalized muscle weakness (HP:0003324)1.80901528
104Scapular winging (HP:0003691)1.78549780
105Increased serum pyruvate (HP:0003542)1.77962282
106Hyperalaninemia (HP:0003348)1.75059883
107Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.75059883
108Abnormality of alanine metabolism (HP:0010916)1.75059883
109Preauricular pit (HP:0004467)1.73161749
110Periauricular skin pits (HP:0100277)1.73161749
111Patent foramen ovale (HP:0001655)1.72758629
112Muscular dystrophy (HP:0003560)1.72626824
113Nausea (HP:0002018)1.71776668
114Abnormality of glycolysis (HP:0004366)1.68604395
115Aneurysm (HP:0002617)1.68369722
116Abnormal ventriculo-arterial connection (HP:0011563)1.65021823
117Transposition of the great arteries (HP:0001669)1.65021823
118Abnormal connection of the cardiac segments (HP:0011545)1.65021823
119Abnormality of the shoulder girdle musculature (HP:0001435)1.64729448
120Limb hypertonia (HP:0002509)1.64017787
121Skin pits (HP:0100276)1.63044828
122Progressive muscle weakness (HP:0003323)1.54071784
123Late onset (HP:0003584)1.52077658
124Abnormality of the salivary glands (HP:0010286)1.49051337
125Myokymia (HP:0002411)1.45359633
126Bulbar palsy (HP:0001283)1.42369309
127Toxemia of pregnancy (HP:0100603)1.41466385
128Central scotoma (HP:0000603)1.38817135
129Generalized aminoaciduria (HP:0002909)1.37605040
130Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)1.35593875
131Lower limb amyotrophy (HP:0007210)1.34497915
132Hip contracture (HP:0003273)1.30544959
133Respiratory insufficiency due to muscle weakness (HP:0002747)1.27405848

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TTN5.39657442
2LMTK24.36989890
3MYLK4.36935427
4OBSCN4.01832195
5PHKG13.70104750
6PHKG23.70104750
7PKN23.64389111
8PDK33.35093443
9PDK43.35093443
10DMPK3.31159959
11TRIB32.79824913
12TIE12.44486668
13PIK3CA2.44413079
14STK242.35233063
15MUSK2.27659384
16BCKDK2.24262478
17NEK12.21972346
18PDK21.97880058
19PINK11.60681150
20PAK31.57909629
21GRK71.46027859
22MAP3K61.44235684
23CAMK2D1.42731201
24ILK1.42378103
25CDC42BPA1.39720224
26EPHA31.32969838
27STK41.20661868
28ROCK11.17887164
29WNK41.17548240
30ZAK1.14141008
31MARK11.10924994
32* PRKD11.07413275
33FLT31.04910590
34RIPK11.02731591
35DAPK31.02559293
36STK38L1.02310570
37MAP3K50.97667394
38INSRR0.95313067
39TRPM70.94003819
40MAPK120.90786439
41MAPKAPK30.87182978
42MAP3K70.86476324
43PRKAA10.84649114
44PDGFRA0.82074999
45CAMK40.81969842
46TAOK10.81241322
47PKN10.80934872
48KDR0.80543379
49MAPK40.80419102
50PRKAA20.80206430
51STK380.75414030
52LIMK10.75185273
53ROCK20.72688860
54ITK0.69709000
55PTK2B0.68740544
56WNK10.68120452
57RPS6KC10.66405729
58RPS6KL10.66405729
59TGFBR20.63991451
60CAMK10.61516784
61MAP3K30.61341224
62RPS6KA60.56828188
63EPHB10.55309474
64CAMK2B0.53929220
65PRKACB0.53839766
66MAP2K30.52148581
67STK390.50746027
68ICK0.50139780
69* CAMK2A0.46263907
70KSR20.43270207
71PTK60.40302873
72DDR20.39212000
73PDPK10.36953957
74* PRKACA0.36751581
75SIK10.36465613
76MAP2K10.33780770
77PRKCH0.33244753
78* PRKACG0.32969342
79PLK40.32212715
80PRKD30.32211694
81PDK10.32141211
82AKT20.29977319
83EPHB20.29652896
84PRKG20.28808235
85MAP3K100.27765526
86BLK0.27045823
87MARK20.26526033
88RPS6KA10.26473299
89CAMK2G0.26307945
90NEK90.25840999
91ZAP700.25490567
92MTOR0.25334134
93MAPK100.25152693
94SGK20.24533605
95RET0.24236946
96EEF2K0.23715039
97FER0.23078510
98LATS20.22829721
99STK110.22507392
100JAK10.20909307
101FGFR30.20408419
102LRRK20.19992696
103LATS10.19945400
104RAF10.19705158
105NLK0.18690982
106NME20.18062394
107AKT10.17996539
108TBK10.17963944
109PRKG10.17676424
110SGK30.17565577
111RPS6KA20.16492217
112* PRKCE0.16456161
113PRKD20.16346698
114UHMK10.16229540
115TGFBR10.14808811
116PDGFRB0.14191716
117RPS6KA30.12677657
118MAPK70.12120407
119MAPKAPK20.10944514
120FGFR40.10352284
121PRKCQ0.09515876
122SGK10.09007950
123PAK60.08942400
124MARK30.06604873
125JAK20.05218976

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000205.97816232
2Cardiac muscle contraction_Homo sapiens_hsa042604.60204909
32-Oxocarboxylic acid metabolism_Homo sapiens_hsa012104.36997913
4* Dilated cardiomyopathy_Homo sapiens_hsa054143.90325809
5* Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054103.75214582
6Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.36832491
7Parkinsons disease_Homo sapiens_hsa050123.14718964
8Propanoate metabolism_Homo sapiens_hsa006403.07013796
9Oxidative phosphorylation_Homo sapiens_hsa001903.02960265
10Fatty acid degradation_Homo sapiens_hsa000712.84550730
11Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.52535154
12Carbon metabolism_Homo sapiens_hsa012002.45583763
13Alzheimers disease_Homo sapiens_hsa050102.28959514
14Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.14106681
15Fatty acid metabolism_Homo sapiens_hsa012122.14036086
16Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.08459278
17Huntingtons disease_Homo sapiens_hsa050161.96719617
18Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.94723827
19Viral myocarditis_Homo sapiens_hsa054161.93533283
20Pyruvate metabolism_Homo sapiens_hsa006201.73987480
21Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.45707244
22Butanoate metabolism_Homo sapiens_hsa006501.35754376
23Fatty acid elongation_Homo sapiens_hsa000621.26291109
24Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.23339460
25Biosynthesis of amino acids_Homo sapiens_hsa012301.14432406
26cGMP-PKG signaling pathway_Homo sapiens_hsa040221.08990027
27PPAR signaling pathway_Homo sapiens_hsa033201.04476045
28Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.03888736
29Insulin resistance_Homo sapiens_hsa049311.03067962
30Glucagon signaling pathway_Homo sapiens_hsa049220.96843037
31Adipocytokine signaling pathway_Homo sapiens_hsa049200.92478268
32Starch and sucrose metabolism_Homo sapiens_hsa005000.89828705
33Lysine degradation_Homo sapiens_hsa003100.88053535
34Tryptophan metabolism_Homo sapiens_hsa003800.81919145
35Insulin signaling pathway_Homo sapiens_hsa049100.79680020
36Focal adhesion_Homo sapiens_hsa045100.78871498
37Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.77915189
38HIF-1 signaling pathway_Homo sapiens_hsa040660.76934514
39Arginine biosynthesis_Homo sapiens_hsa002200.74430608
40Morphine addiction_Homo sapiens_hsa050320.73403291
41Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.73042947
42Calcium signaling pathway_Homo sapiens_hsa040200.69997188
43Type II diabetes mellitus_Homo sapiens_hsa049300.69291746
44Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.68760300
45beta-Alanine metabolism_Homo sapiens_hsa004100.66818805
46Thyroid hormone signaling pathway_Homo sapiens_hsa049190.61157805
47AMPK signaling pathway_Homo sapiens_hsa041520.60761933
48ECM-receptor interaction_Homo sapiens_hsa045120.59647417
49Tight junction_Homo sapiens_hsa045300.58725848
50Vascular smooth muscle contraction_Homo sapiens_hsa042700.57511972
51Arginine and proline metabolism_Homo sapiens_hsa003300.56694200
52Oxytocin signaling pathway_Homo sapiens_hsa049210.53835316
53Galactose metabolism_Homo sapiens_hsa000520.52179770
54Central carbon metabolism in cancer_Homo sapiens_hsa052300.52127766
55Phenylalanine metabolism_Homo sapiens_hsa003600.51062370
56GABAergic synapse_Homo sapiens_hsa047270.49167566
57Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.49118518
58Amphetamine addiction_Homo sapiens_hsa050310.48844811
59cAMP signaling pathway_Homo sapiens_hsa040240.46736701
60Cocaine addiction_Homo sapiens_hsa050300.46629309
61Melanogenesis_Homo sapiens_hsa049160.46190815
62Fatty acid biosynthesis_Homo sapiens_hsa000610.45567154
63Renin secretion_Homo sapiens_hsa049240.43258699
64Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.43043674
65Adherens junction_Homo sapiens_hsa045200.41965548
66Peroxisome_Homo sapiens_hsa041460.40986196
67Prion diseases_Homo sapiens_hsa050200.40264731
68Amoebiasis_Homo sapiens_hsa051460.39976347
69Fructose and mannose metabolism_Homo sapiens_hsa000510.38861322
70Longevity regulating pathway - mammal_Homo sapiens_hsa042110.38399816
71Insulin secretion_Homo sapiens_hsa049110.37538320
72Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.37527831
73Phospholipase D signaling pathway_Homo sapiens_hsa040720.35596374
74Gastric acid secretion_Homo sapiens_hsa049710.35177574
75Thyroid hormone synthesis_Homo sapiens_hsa049180.33950494
76Salivary secretion_Homo sapiens_hsa049700.33929910
77Circadian entrainment_Homo sapiens_hsa047130.28737015
78Aldosterone synthesis and secretion_Homo sapiens_hsa049250.27038571
79Long-term potentiation_Homo sapiens_hsa047200.27038540
80Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.25859472
81Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.25081461
82Leukocyte transendothelial migration_Homo sapiens_hsa046700.23457469
83Mineral absorption_Homo sapiens_hsa049780.22315840
84Regulation of actin cytoskeleton_Homo sapiens_hsa048100.22307526
85Metabolic pathways_Homo sapiens_hsa011000.20423930
86Endometrial cancer_Homo sapiens_hsa052130.20263531
87Regulation of autophagy_Homo sapiens_hsa041400.19865289
88Glutamatergic synapse_Homo sapiens_hsa047240.19707606
89Glycerophospholipid metabolism_Homo sapiens_hsa005640.19645086
90Proteoglycans in cancer_Homo sapiens_hsa052050.19201334
91Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.19091289
92Ovarian steroidogenesis_Homo sapiens_hsa049130.18838805
93Cysteine and methionine metabolism_Homo sapiens_hsa002700.18613359
94Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.18053357
95Linoleic acid metabolism_Homo sapiens_hsa005910.17719179
96Platelet activation_Homo sapiens_hsa046110.16262411
97Renal cell carcinoma_Homo sapiens_hsa052110.16225733
98Dorso-ventral axis formation_Homo sapiens_hsa043200.14794475
99Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.14601567
100MAPK signaling pathway_Homo sapiens_hsa040100.13804514
101Serotonergic synapse_Homo sapiens_hsa047260.13746502
102Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.13223406
103Gap junction_Homo sapiens_hsa045400.12156715
104Tyrosine metabolism_Homo sapiens_hsa003500.12071765
105Small cell lung cancer_Homo sapiens_hsa052220.11830455
106Circadian rhythm_Homo sapiens_hsa047100.11800350
107Taste transduction_Homo sapiens_hsa047420.11203445
108Pancreatic secretion_Homo sapiens_hsa049720.09230862
109mTOR signaling pathway_Homo sapiens_hsa041500.09195574
110VEGF signaling pathway_Homo sapiens_hsa043700.08918876
111Fat digestion and absorption_Homo sapiens_hsa049750.08839320
112Bile secretion_Homo sapiens_hsa049760.08554097
113GnRH signaling pathway_Homo sapiens_hsa049120.07545575
114Cholinergic synapse_Homo sapiens_hsa047250.07342423
115Notch signaling pathway_Homo sapiens_hsa043300.06616814
116Toxoplasmosis_Homo sapiens_hsa051450.06614787
117AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.06581251
118Estrogen signaling pathway_Homo sapiens_hsa049150.03202837
119PI3K-Akt signaling pathway_Homo sapiens_hsa041510.02367165
120Protein digestion and absorption_Homo sapiens_hsa04974-0.0130971
121Glycerolipid metabolism_Homo sapiens_hsa00561-0.0113730

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