MYZAP

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





Description: This gene encodes a protein that is abundantly expressed in cardiac tissue. The encoded protein localizes to intercalated discs in cardiomyocytes and functions as an activator of Rho-dependent serum-response factor signaling. Alternative splicing results in multiple transcript variants. Readthrough transcription also exists between this gene and the neighboring downstream gene POLR2M (polymerase (RNA) II (DNA directed) polypeptide M) and is represented with GeneID: 145781. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1sarcomere organization (GO:0045214)8.60946583
2cardiac myofibril assembly (GO:0055003)8.53558250
3negative regulation of potassium ion transmembrane transporter activity (GO:1901017)7.76028195
4myofibril assembly (GO:0030239)7.30169763
5regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO7.12433278
6negative regulation of potassium ion transmembrane transport (GO:1901380)6.97135267
7bundle of His cell to Purkinje myocyte communication (GO:0086069)6.53567102
8regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)6.53474241
9regulation of relaxation of muscle (GO:1901077)6.51075267
10positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)6.50831763
11cardiac muscle contraction (GO:0060048)6.45280498
12tricarboxylic acid cycle (GO:0006099)6.44345204
13cardiac muscle cell development (GO:0055013)6.31719297
14regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)6.23790223
15regulation of actin filament-based movement (GO:1903115)6.18950673
16cardiac cell development (GO:0055006)5.95628512
17regulation of sarcomere organization (GO:0060297)5.86923037
18ventricular cardiac muscle cell action potential (GO:0086005)5.85389539
19cardiac muscle hypertrophy (GO:0003300)5.69041099
20actin-myosin filament sliding (GO:0033275)5.66295938
21muscle filament sliding (GO:0030049)5.66295938
22cardiac muscle tissue morphogenesis (GO:0055008)5.60424128
23ventricular cardiac muscle tissue morphogenesis (GO:0055010)5.53515259
24heart trabecula formation (GO:0060347)5.52047009
25actomyosin structure organization (GO:0031032)5.50521912
26striated muscle hypertrophy (GO:0014897)5.36403281
27regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)5.28549952
28adult heart development (GO:0007512)5.09696987
29carnitine shuttle (GO:0006853)5.03927009
30plasma membrane repair (GO:0001778)5.02830939
31muscle tissue morphogenesis (GO:0060415)5.00802629
32regulation of cell communication by electrical coupling (GO:0010649)4.98534980
33regulation of skeletal muscle contraction (GO:0014819)4.92817799
34cell communication involved in cardiac conduction (GO:0086065)4.90897742
35cellular response to epinephrine stimulus (GO:0071872)4.89983520
36regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)4.89295930
37regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)4.88460521
38regulation of striated muscle contraction (GO:0006942)4.86740289
39actin-mediated cell contraction (GO:0070252)4.85969998
40cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.78500506
41regulation of acyl-CoA biosynthetic process (GO:0050812)4.76893346
42muscle hypertrophy (GO:0014896)4.76883425
43regulation of the force of heart contraction (GO:0002026)4.76116376
44regulation of cardiac muscle cell contraction (GO:0086004)4.67585458
45striated muscle contraction (GO:0006941)4.67156555
46heart process (GO:0003015)4.65417089
47heart contraction (GO:0060047)4.65417089
48relaxation of cardiac muscle (GO:0055119)4.64735923
49response to epinephrine (GO:0071871)4.57900718
50fatty acid transmembrane transport (GO:1902001)4.54723595
51sarcoplasmic reticulum calcium ion transport (GO:0070296)4.47593686
52neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)4.40664719
53regulation of membrane repolarization (GO:0060306)4.39093894
54regulation of cardiac muscle contraction (GO:0055117)4.38120776
55regulation of coenzyme metabolic process (GO:0051196)4.27764408
56regulation of cofactor metabolic process (GO:0051193)4.27764408
57cardiac chamber formation (GO:0003207)4.27329284
58regulation of cardioblast differentiation (GO:0051890)4.14181139
59cardiac ventricle formation (GO:0003211)4.08944483
60cell communication by electrical coupling (GO:0010644)4.05400898
61adrenergic receptor signaling pathway (GO:0071875)4.04503509
62cardiac muscle adaptation (GO:0014887)4.03829722
63cardiac muscle hypertrophy in response to stress (GO:0014898)4.03829722
64muscle hypertrophy in response to stress (GO:0003299)4.03829722
65cardiac muscle cell action potential (GO:0086001)4.01519052
66cardiac muscle cell action potential involved in contraction (GO:0086002)4.01200105
67regulation of heart rate (GO:0002027)3.97798766
68mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.95577877
69membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.86697343
70cardiac conduction (GO:0061337)3.84984718
71mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.83479751
72ventricular cardiac muscle cell development (GO:0055015)3.80899998
73regulation of lipoprotein metabolic process (GO:0050746)3.80190144
74negative regulation of potassium ion transport (GO:0043267)3.79529482
75oxidative phosphorylation (GO:0006119)3.79144859
76response to stimulus involved in regulation of muscle adaptation (GO:0014874)3.75387864
77carnitine transmembrane transport (GO:1902603)3.75029701
78respiratory electron transport chain (GO:0022904)3.72954785
79negative regulation of cardiac muscle cell apoptotic process (GO:0010667)3.72857996
80actin filament-based movement (GO:0030048)3.71163162
81calcium-mediated signaling using intracellular calcium source (GO:0035584)3.70327182
82energy coupled proton transport, down electrochemical gradient (GO:0015985)3.69985342
83ATP synthesis coupled proton transport (GO:0015986)3.69985342
84regulation of heart contraction (GO:0008016)3.67724768
85negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.63455799
862-oxoglutarate metabolic process (GO:0006103)3.62881076
87regulation of calcium ion transmembrane transporter activity (GO:1901019)3.62520458
88regulation of calcium ion transmembrane transport (GO:1903169)3.62520458
89positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.62245074
90electron transport chain (GO:0022900)3.61941148
91NADH metabolic process (GO:0006734)3.57322447
92regulation of ATP catabolic process (GO:1903289)3.57241545
93regulation of ATPase activity (GO:0043462)3.57241545
94regulation of sulfur metabolic process (GO:0042762)3.56565319
95regulation of heart rate by cardiac conduction (GO:0086091)3.54913076
96regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.52144273
97response to caffeine (GO:0031000)3.50993552
98desmosome organization (GO:0002934)3.50982883
99regulation of sequestering of triglyceride (GO:0010889)3.50430037
100negative regulation of protein localization to cell surface (GO:2000009)3.48932782
101trabecula formation (GO:0060343)3.48586406
102negative regulation of striated muscle cell apoptotic process (GO:0010664)3.48097119
103positive regulation of action potential (GO:0045760)3.47565617
104creatine metabolic process (GO:0006600)3.44071292
105negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.44014563
106negative regulation of calcium ion transmembrane transport (GO:1903170)3.44014563
107activation of protein kinase A activity (GO:0034199)3.41819680
108positive regulation of heart rate (GO:0010460)3.41721206
109amino-acid betaine transport (GO:0015838)3.40728297
110carnitine transport (GO:0015879)3.40728297
111muscle contraction (GO:0006936)3.39821834
112striated muscle cell development (GO:0055002)3.37104593
113potassium ion export (GO:0071435)3.35130192
114positive regulation of heart contraction (GO:0045823)3.34707408
115cardiac muscle tissue development (GO:0048738)3.33716395
116fatty acid beta-oxidation (GO:0006635)3.31259471
117regulation of muscle system process (GO:0090257)3.22012990
118regulation of muscle contraction (GO:0006937)3.21858593
119positive regulation of cation channel activity (GO:2001259)3.21698404
120regulation of cation channel activity (GO:2001257)3.20632028
121striated muscle adaptation (GO:0014888)3.20092035
122atrioventricular valve morphogenesis (GO:0003181)3.19226953
123regulation of fatty acid oxidation (GO:0046320)3.18958752
124detection of calcium ion (GO:0005513)3.17401699
125muscle system process (GO:0003012)3.16472942
126response to inactivity (GO:0014854)3.15154637
127atrial septum morphogenesis (GO:0060413)3.11568246
128relaxation of muscle (GO:0090075)3.06646768

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1PPARG_19300518_ChIP-PET_3T3-L1_Mouse6.59310355
2EP300_21415370_ChIP-Seq_HL-1_Mouse5.25293458
3TBX20_22328084_ChIP-Seq_HEART_Mouse4.09176272
4TBX20_22080862_ChIP-Seq_HEART_Mouse4.09176272
5TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.56360418
6ESRRB_18555785_ChIP-Seq_MESCs_Mouse3.55075364
7RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.51440116
8ESR1_20079471_ChIP-ChIP_T-47D_Human3.11075447
9CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.96627134
10MEF2A_21415370_ChIP-Seq_HL-1_Mouse2.94949422
11RARG_19884340_ChIP-ChIP_MEFs_Mouse2.83640440
12ZNF263_19887448_ChIP-Seq_K562_Human2.66491373
13GATA1_22025678_ChIP-Seq_K562_Human2.58732828
14BP1_19119308_ChIP-ChIP_Hs578T_Human2.54927876
15GATA4_21415370_ChIP-Seq_HL-1_Mouse2.36393635
16CDX2_19796622_ChIP-Seq_MESCs_Mouse2.32726930
17TRIM28_21343339_ChIP-Seq_HEK293_Human2.18477577
18CLOCK_20551151_ChIP-Seq_293T_Human2.12064936
19GATA2_21666600_ChIP-Seq_HMVEC_Human2.06904645
20EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.04990083
21PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.87671355
22NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.87519083
23NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.80124396
24SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.79296741
25TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.71101750
26ESR2_21235772_ChIP-Seq_MCF-7_Human1.70961654
27PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.64378565
28ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.62292751
29VDR_22108803_ChIP-Seq_LS180_Human1.61651277
30THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.61142920
31STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.60448458
32PPAR_26484153_Chip-Seq_NCI-H1993_Human1.60120157
33PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.56600303
34GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.46533343
35BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.42407832
36ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.38735514
37TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.35382918
38CJUN_26792858_Chip-Seq_BT549_Human1.32650959
39EZH2_22144423_ChIP-Seq_EOC_Human1.27794875
40ESR1_21235772_ChIP-Seq_MCF-7_Human1.27007674
41SOX9_24532713_ChIP-Seq_HFSC_Mouse1.25284313
42ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.24358919
43ISL1_27105846_Chip-Seq_CPCs_Mouse1.19809894
44RXR_22158963_ChIP-Seq_LIVER_Mouse1.19668174
45KDM2B_26808549_Chip-Seq_SUP-B15_Human1.16224545
46LXR_22158963_ChIP-Seq_LIVER_Mouse1.14067784
47FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.12527653
48TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.12174243
49STAT6_21828071_ChIP-Seq_BEAS2B_Human1.11607524
50RUNX1_27514584_Chip-Seq_MCF-7_Human1.10996376
51GATA1_19941826_ChIP-Seq_K562_Human1.10859773
52GATA1_19941827_ChIP-Seq_MEL_Mouse1.10798764
53CTNNB1_20460455_ChIP-Seq_HCT116_Human1.10081620
54TCF4_18268006_ChIP-ChIP_LS174T_Human1.10076353
55FOXO3_23340844_ChIP-Seq_DLD1_Human1.08739272
56NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.08476804
57BCAT_22108803_ChIP-Seq_LS180_Human1.08055792
58KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.07205578
59NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.07000180
60TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.05546129
61NR3C1_23031785_ChIP-Seq_PC12_Mouse1.05531394
62RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.04355150
63CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.03429333
64AHR_22903824_ChIP-Seq_MCF-7_Human1.03046872
65GBX2_23144817_ChIP-Seq_PC3_Human1.02656793
66ELK3_25401928_ChIP-Seq_HUVEC_Human1.02209136
67SMAD4_21799915_ChIP-Seq_A2780_Human1.01767663
68NFIB_24661679_ChIP-Seq_LUNG_Mouse1.01251700
69SALL4_18804426_ChIP-ChIP_XEN_Mouse0.99307904
70SMAD3_21741376_ChIP-Seq_HESCs_Human0.99182113
71GATA2_19941826_ChIP-Seq_K562_Human0.98250538
72SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.97827072
73FOXA2_19822575_ChIP-Seq_HepG2_Human0.96106242
74WT1_19549856_ChIP-ChIP_CCG9911_Human0.96016242
75SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.95615705
76TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.95518664
77PPARA_22158963_ChIP-Seq_LIVER_Mouse0.95008125
78DROSHA_22980978_ChIP-Seq_HELA_Human0.94564399
79CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.93645798
80SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.92431902
81MTF2_20144788_ChIP-Seq_MESCs_Mouse0.92340669
82TP63_22573176_ChIP-Seq_HFKS_Human0.91906672
83GF1_26923725_Chip-Seq_HPCs_Mouse0.91113380
84AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.90481344
85RNF2_18974828_ChIP-Seq_MESCs_Mouse0.89659142
86EZH2_18974828_ChIP-Seq_MESCs_Mouse0.89659142
87PIAS1_25552417_ChIP-Seq_VCAP_Human0.89518425
88HIF1A_21447827_ChIP-Seq_MCF-7_Human0.88676739
89PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.88202967
90RACK7_27058665_Chip-Seq_MCF-7_Human0.87141065
91JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.86527024
92SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.84973742
93SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.84973742
94SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.84630030
95SPI1_23127762_ChIP-Seq_K562_Human0.83904348
96HTT_18923047_ChIP-ChIP_STHdh_Human0.83138867
97ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.82474407
98SMAD4_21741376_ChIP-Seq_HESCs_Human0.82416248
99GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.82376748
100PCGF2_27294783_Chip-Seq_NPCs_Mouse0.81747245
101SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.81666585
102LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.81241770
103SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.81206578
104SMAD_19615063_ChIP-ChIP_OVARY_Human0.80872356
105ATF3_27146783_Chip-Seq_COLON_Human0.80263762
106JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.79959371
107TP53_16413492_ChIP-PET_HCT116_Human0.79248736
108NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.79155518
109NRF2_20460467_ChIP-Seq_MEFs_Mouse0.79155518
110SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.78139199
111Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.77738286
112STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.77368840
113ZNF217_24962896_ChIP-Seq_MCF-7_Human0.77316007
114LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.75272841
115* WT1_25993318_ChIP-Seq_PODOCYTE_Human0.74825233
116KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse0.74766572
117P63_26484246_Chip-Seq_KERATINOCYTES_Human0.74717133
118GATA1_19941827_ChIP-Seq_MEL86_Mouse0.73968061
119PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.73567501
120TP63_17297297_ChIP-ChIP_HaCaT_Human0.73543975
121CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.73480468
122ARNT_22903824_ChIP-Seq_MCF-7_Human0.73290288
123SOX2_20726797_ChIP-Seq_SW620_Human0.72948026
124GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.72787098
125TBL1_22424771_ChIP-Seq_293T_Human0.71664944
126EZH2_27294783_Chip-Seq_ESCs_Mouse0.71556315
127PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.71338669
128SOX2_21211035_ChIP-Seq_LN229_Gbm0.70999668
129ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.70843026
130KDM2B_26808549_Chip-Seq_DND41_Human0.69981621
131CTCF_27219007_Chip-Seq_Bcells_Human0.69659390
132SOX2_27498859_Chip-Seq_STOMACH_Mouse0.68982385

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002837_dystrophic_cardiac_calcinosis6.28302760
2MP0004084_abnormal_cardiac_muscle6.08143907
3MP0004215_abnormal_myocardial_fiber5.09492624
4MP0003646_muscle_fatigue5.05833222
5MP0000751_myopathy4.76995689
6MP0004036_abnormal_muscle_relaxation4.14860811
7MP0005330_cardiomyopathy4.05072661
8MP0000749_muscle_degeneration3.35129041
9MP0002972_abnormal_cardiac_muscle3.30346533
10MP0008775_abnormal_heart_ventricle3.25723700
11MP0004087_abnormal_muscle_fiber2.94290753
12MP0003137_abnormal_impulse_conducting2.92398968
13MP0001544_abnormal_cardiovascular_syste2.86643958
14MP0005385_cardiovascular_system_phenoty2.86643958
15MP0004484_altered_response_of2.81256383
16MP0010630_abnormal_cardiac_muscle2.77904376
17MP0003828_pulmonary_edema2.76570835
18MP0006138_congestive_heart_failure2.70381449
19MP0005620_abnormal_muscle_contractility2.61222146
20MP0000750_abnormal_muscle_regeneration2.56382459
21MP0004130_abnormal_muscle_cell2.55234902
22MP0004085_abnormal_heartbeat2.32704235
23MP0010368_abnormal_lymphatic_system2.25514144
24MP0002106_abnormal_muscle_physiology2.24611785
25MP0004510_myositis2.22739622
26MP0003221_abnormal_cardiomyocyte_apopto1.98190746
27MP0002269_muscular_atrophy1.90376172
28MP0002127_abnormal_cardiovascular_syste1.82596656
29MP0005369_muscle_phenotype1.78071710
30MP0001879_abnormal_lymphatic_vessel1.69187042
31MP0003950_abnormal_plasma_membrane1.66813013
32MP0000759_abnormal_skeletal_muscle1.59850781
33MP0006036_abnormal_mitochondrial_physio1.55667740
34MP0000343_altered_response_to1.52448702
35MP0000747_muscle_weakness1.51200617
36MP0003567_abnormal_fetal_cardiomyocyte1.51019745
37MP0004145_abnormal_muscle_electrophysio1.50272381
38MP0002332_abnormal_exercise_endurance1.42408975
39MP0005165_increased_susceptibility_to1.39167023
40MP0004233_abnormal_muscle_weight1.35517490
41MP0003279_aneurysm1.30916744
42MP0005666_abnormal_adipose_tissue1.29388358
43MP0000266_abnormal_heart_morphology1.28010412
44MP0005670_abnormal_white_adipose1.12919508
45MP0004272_abnormal_basement_membrane1.09478426
46MP0003566_abnormal_cell_adhesion1.04131357
47MP0001661_extended_life_span1.00715195
48MP0005167_abnormal_blood-brain_barrier0.99940789
49MP0002128_abnormal_blood_circulation0.98891203
50MP0000767_abnormal_smooth_muscle0.98145311
51MP0000230_abnormal_systemic_arterial0.96158382
52MP0005503_abnormal_tendon_morphology0.91496475
53MP0002234_abnormal_pharynx_morphology0.91443070
54MP0009780_abnormal_chondrocyte_physiolo0.89777504
55MP0005375_adipose_tissue_phenotype0.86991635
56MP0005464_abnormal_platelet_physiology0.86698794
57MP0003724_increased_susceptibility_to0.84622622
58MP0004185_abnormal_adipocyte_glucose0.83917239
59MP0005623_abnormal_meninges_morphology0.81341798
60MP0005409_darkened_coat_color0.79471524
61MP0006035_abnormal_mitochondrial_morpho0.77474791
62MP0004147_increased_porphyrin_level0.70729853
63MP0003705_abnormal_hypodermis_morpholog0.68783097
64MP0005266_abnormal_metabolism0.66631700
65MP0005451_abnormal_body_composition0.65670361
66MP0002925_abnormal_cardiovascular_devel0.65508694
67MP0008438_abnormal_cutaneous_collagen0.64883964
68MP0005334_abnormal_fat_pad0.63744684
69MP0005275_abnormal_skin_tensile0.63072039
70MP0002108_abnormal_muscle_morphology0.63006611
71MP0001958_emphysema0.60894191
72MP0000003_abnormal_adipose_tissue0.57063863
73MP0005187_abnormal_penis_morphology0.54839031
74MP0001614_abnormal_blood_vessel0.54691342
75MP0009384_cardiac_valve_regurgitation0.54509312
76MP0002118_abnormal_lipid_homeostasis0.51833870
77MP0000013_abnormal_adipose_tissue0.50556054
78MP0004043_abnormal_pH_regulation0.49492400
79MP0001784_abnormal_fluid_regulation0.49127266
80MP0002295_abnormal_pulmonary_circulatio0.48993533
81MP0005595_abnormal_vascular_smooth0.48040541
82MP0000249_abnormal_blood_vessel0.47769438
83MP0003984_embryonic_growth_retardation0.44482833
84MP0002638_abnormal_pupillary_reflex0.43762753
85MP0005319_abnormal_enzyme/_coenzyme0.43192853
86MP0002088_abnormal_embryonic_growth/wei0.42831013
87MP0005388_respiratory_system_phenotype0.40877310
88MP0002133_abnormal_respiratory_system0.40877310
89MP0002909_abnormal_adrenal_gland0.40635067
90MP0000733_abnormal_muscle_development0.40129157
91MP0002971_abnormal_brown_adipose0.38713929
92MP0006054_spinal_hemorrhage0.37862697
93MP0003941_abnormal_skin_development0.37552305
94MP0010329_abnormal_lipoprotein_level0.36849874
95MP0003045_fibrosis0.36478720
96MP0009763_increased_sensitivity_to0.36285704
97MP0001851_eye_inflammation0.36039476
98MP0008874_decreased_physiological_sensi0.36015888
99MP0000465_gastrointestinal_hemorrhage0.35974256
100MP0002078_abnormal_glucose_homeostasis0.35202618
101MP0008004_abnormal_stomach_pH0.34295888
102MP0003091_abnormal_cell_migration0.33344755
103MP0008569_lethality_at_weaning0.31054249
104MP0005584_abnormal_enzyme/coenzyme_acti0.29248328
105MP0001853_heart_inflammation0.28657814
106MP0003948_abnormal_gas_homeostasis0.27463066
107MP0005448_abnormal_energy_balance0.26390360
108MP0003186_abnormal_redox_activity0.24334037
109MP0009643_abnormal_urine_homeostasis0.23954108
110MP0001984_abnormal_olfaction0.23016612
111MP0002877_abnormal_melanocyte_morpholog0.22890020
112MP0008961_abnormal_basal_metabolism0.22070606
113MP0005380_embryogenesis_phenotype0.21924210
114MP0001672_abnormal_embryogenesis/_devel0.21924210
115MP0005535_abnormal_body_temperature0.21798929
116MP0001175_abnormal_lung_morphology0.21630911
117MP0001727_abnormal_embryo_implantation0.20742965
118MP0003191_abnormal_cellular_cholesterol0.20354447
119MP0003806_abnormal_nucleotide_metabolis0.19876255
120MP0009115_abnormal_fat_cell0.19310519

Predicted human phenotypes

RankGene SetZ-score
1Sudden death (HP:0001699)8.41890642
2Ventricular tachycardia (HP:0004756)7.64754429
3Atrial fibrillation (HP:0005110)6.79114694
4Primary atrial arrhythmia (HP:0001692)6.33359452
5Supraventricular tachycardia (HP:0004755)6.11087369
6Supraventricular arrhythmia (HP:0005115)6.00845803
7Right ventricular cardiomyopathy (HP:0011663)5.98829511
8Calf muscle hypertrophy (HP:0008981)5.86918732
9Lipoatrophy (HP:0100578)5.63755725
10Syncope (HP:0001279)5.51656552
11Muscle fiber splitting (HP:0003555)5.24284486
12Muscle hypertrophy of the lower extremities (HP:0008968)5.20566163
13Exercise-induced muscle cramps (HP:0003710)5.04175153
14Abnormality of the calf musculature (HP:0001430)5.00973954
15Exercise-induced myalgia (HP:0003738)4.89718694
16Bundle branch block (HP:0011710)4.87144934
17Palpitations (HP:0001962)4.80513846
18Dilated cardiomyopathy (HP:0001644)4.72003099
19Hyporeflexia of lower limbs (HP:0002600)4.65074018
20Myoglobinuria (HP:0002913)4.61388897
21Abnormality of the left ventricular outflow tract (HP:0011103)4.58864279
22Subaortic stenosis (HP:0001682)4.58864279
23Prolonged QT interval (HP:0001657)4.54854237
24Ventricular arrhythmia (HP:0004308)4.32053647
25Heart block (HP:0012722)4.11252070
26Atrioventricular block (HP:0001678)3.97498330
27Abnormal atrioventricular conduction (HP:0005150)3.89145576
28Ventricular fibrillation (HP:0001663)3.85794525
29Asymmetric septal hypertrophy (HP:0001670)3.81087403
30EMG: neuropathic changes (HP:0003445)3.75856268
31EMG: myopathic abnormalities (HP:0003458)3.70516219
32Increased connective tissue (HP:0009025)3.66857235
33Rhabdomyolysis (HP:0003201)3.48728558
34Abnormal EKG (HP:0003115)3.22289801
35Hepatic necrosis (HP:0002605)3.10509758
36Type 1 muscle fiber predominance (HP:0003803)3.04223516
37Centrally nucleated skeletal muscle fibers (HP:0003687)3.03625721
38Hypoglycemic coma (HP:0001325)2.99541592
39Abnormal mitochondria in muscle tissue (HP:0008316)2.97436140
40Left ventricular hypertrophy (HP:0001712)2.96731493
41Acute necrotizing encephalopathy (HP:0006965)2.91703930
42Difficulty running (HP:0009046)2.89776531
43Palmoplantar keratoderma (HP:0000982)2.85835744
44Ketoacidosis (HP:0001993)2.81332681
45Myotonia (HP:0002486)2.79232538
46Distal lower limb muscle weakness (HP:0009053)2.67626494
47Abnormality of fatty-acid metabolism (HP:0004359)2.65869887
48Abnormality of dicarboxylic acid metabolism (HP:0010995)2.58955273
49Dicarboxylic aciduria (HP:0003215)2.58955273
50Difficulty climbing stairs (HP:0003551)2.56908413
51Hepatocellular necrosis (HP:0001404)2.54467627
52Conjunctival hamartoma (HP:0100780)2.52472787
53Foot dorsiflexor weakness (HP:0009027)2.49840094
54Acute encephalopathy (HP:0006846)2.48577312
55Progressive macrocephaly (HP:0004481)2.45093395
56Sudden cardiac death (HP:0001645)2.41705269
57Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.36895378
58Abnormality of alanine metabolism (HP:0010916)2.36895378
59Hyperalaninemia (HP:0003348)2.36895378
60Testicular atrophy (HP:0000029)2.36233960
61Mildly elevated creatine phosphokinase (HP:0008180)2.33806589
62Cerebral edema (HP:0002181)2.30851646
63Hyperlipoproteinemia (HP:0010980)2.30276589
64Mitochondrial inheritance (HP:0001427)2.29234142
65Abnormality of the tricuspid valve (HP:0001702)2.25492259
66Increased muscle lipid content (HP:0009058)2.23338015
67Limb-girdle muscle atrophy (HP:0003797)2.22487011
68Increased CSF lactate (HP:0002490)2.20737148
69Increased variability in muscle fiber diameter (HP:0003557)2.20641562
70Areflexia of lower limbs (HP:0002522)2.17154566
71Congestive heart failure (HP:0001635)2.15993324
72Bradycardia (HP:0001662)2.15284474
73Prolonged bleeding time (HP:0003010)2.15124188
74Respiratory failure (HP:0002878)2.13133159
75Hypoplastic ischia (HP:0003175)2.12783832
76Broad metatarsal (HP:0001783)2.12561640
77Ragged-red muscle fibers (HP:0003200)2.10439837
78Scapular winging (HP:0003691)2.07590418
79Polycythemia (HP:0001901)2.05738591
80Skin nodule (HP:0200036)2.04892978
81Neoplasm of the adrenal gland (HP:0100631)2.04736895
82Facial diplegia (HP:0001349)2.04473222
83Lactic acidosis (HP:0003128)2.03148278
84Steppage gait (HP:0003376)2.01667531
85Generalized aminoaciduria (HP:0002909)2.01367793
86Lymphangioma (HP:0100764)2.00648869
87Neoplasm of head and neck (HP:0012288)2.00091623
88Esophageal neoplasm (HP:0100751)2.00091623
89Exercise intolerance (HP:0003546)1.98506888
90Muscle stiffness (HP:0003552)1.96235750
91Abnormality of skeletal muscle fiber size (HP:0012084)1.94273089
92Neck muscle weakness (HP:0000467)1.93951283
93Hamartoma of the eye (HP:0010568)1.91871495
94Pulmonary artery stenosis (HP:0004415)1.89499713
95Hypoplastic heart (HP:0001961)1.89095454
96Ketosis (HP:0001946)1.88084900
97Increased mean platelet volume (HP:0011877)1.87346600
98Pheochromocytoma (HP:0002666)1.86899209
99Increased intramyocellular lipid droplets (HP:0012240)1.86431665
100Cavernous hemangioma (HP:0001048)1.86095357
101Hyperinsulinemic hypoglycemia (HP:0000825)1.85622029
102Increased serum pyruvate (HP:0003542)1.85576441
103Large for gestational age (HP:0001520)1.85153085
104Abnormality of the ischium (HP:0003174)1.84432585
105Distal lower limb amyotrophy (HP:0008944)1.84427358
106Menorrhagia (HP:0000132)1.83749542
107Neonatal death (HP:0003811)1.82512546
108Congenital malformation of the right heart (HP:0011723)1.81523995
109Double outlet right ventricle (HP:0001719)1.81523995
110Dysmetric saccades (HP:0000641)1.80894466
111Oligomenorrhea (HP:0000876)1.80362163
112Hypoplastic left heart (HP:0004383)1.79437718
113Abnormality of the foot musculature (HP:0001436)1.79188954
114Nausea (HP:0002018)1.78666223
115Generalized muscle weakness (HP:0003324)1.78281249
116Frequent falls (HP:0002359)1.76557634
117Lower limb amyotrophy (HP:0007210)1.76345397
118Muscular dystrophy (HP:0003560)1.75363479
119Rimmed vacuoles (HP:0003805)1.75313107
120Central scotoma (HP:0000603)1.73552755
121Gowers sign (HP:0003391)1.71599821
122Abnormality of glycolysis (HP:0004366)1.71507980
123Resting tremor (HP:0002322)1.71472022
124Bulbar palsy (HP:0001283)1.70436201
125Abnormality of the endocardium (HP:0004306)1.70433152
126Toxemia of pregnancy (HP:0100603)1.69051914
127Abnormal platelet volume (HP:0011876)1.67920384
128Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)1.62444515
129Aneurysm (HP:0002617)1.58324220
130Abnormality of the shoulder girdle musculature (HP:0001435)1.53521174
131Joint hemorrhage (HP:0005261)1.50389885
132Muscle fiber inclusion bodies (HP:0100299)1.47008097
133Difficulty walking (HP:0002355)1.46168131
134Nemaline bodies (HP:0003798)1.44018677
135Spontaneous hematomas (HP:0007420)1.43863397
136Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.40926917
137Proximal amyotrophy (HP:0007126)1.40387468
138Purpura (HP:0000979)1.40022516

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TTN5.43359374
2LMTK24.37134127
3MYLK4.12388319
4TIE14.09641766
5PDK43.48813430
6PDK33.48813430
7PHKG13.34640035
8PHKG23.34640035
9PKN23.21223652
10OBSCN3.15227447
11DMPK3.09141971
12PDK22.38930744
13TRIB32.36508570
14STK242.30825489
15PIK3CA2.23071697
16BCKDK1.97478356
17GRK71.96501430
18PINK11.84479408
19MUSK1.83131189
20KDR1.66869934
21NEK11.62962063
22MAP3K61.60196620
23TGFBR21.49491610
24ZAK1.37810078
25PRKD11.37173381
26PAK31.35356366
27CAMK2D1.24809806
28ILK1.20590005
29STK41.16215246
30INSRR1.13248624
31STK38L1.09244817
32WNK41.07328725
33ROCK11.03573787
34TRPM70.97668087
35FLT30.96963559
36CDC42BPA0.96214500
37RIPK10.90218481
38MAP3K70.87365884
39MAPK120.86099940
40MAP2K30.85970681
41CAMK40.84895754
42PRKAA20.83704269
43MAP3K30.83096060
44MARK10.82570771
45ZAP700.80786498
46NEK90.80637898
47MAPKAPK30.80354008
48PRKAA10.78422778
49LIMK10.77107990
50PDGFRA0.76203116
51STK390.71826036
52ITK0.70912934
53PKN10.68046742
54MAPK40.67402302
55EPHB10.66625936
56MAP3K50.66178513
57LATS10.66173288
58PIK3CG0.63576113
59MAP2K10.62896546
60EPHB20.62117295
61DAPK30.61508723
62PTK60.60953639
63PTK2B0.60882410
64NME20.59368966
65TGFBR10.59273471
66MST40.58645123
67ROCK20.58549927
68WNK10.57785365
69CAMK2A0.53427503
70RPS6KC10.52698291
71RPS6KL10.52698291
72CAMK10.52531839
73BLK0.52297564
74FER0.51895647
75PRKCE0.51571958
76GRK50.50681783
77CAMK2B0.50323870
78BMX0.49019591
79PRKACB0.46163368
80STK380.45381572
81RPS6KA60.44911199
82TESK10.44416444
83LRRK20.40777369
84PRKG20.39140589
85JAK10.39128250
86NLK0.38899558
87DDR20.38004143
88FGFR40.37607964
89PDPK10.36607432
90KSR20.36261997
91RIPK40.35343282
92PRKACG0.34539773
93PRKACA0.34326049
94PDK10.32679077
95STK30.31264188
96ARAF0.29189887
97PDGFRB0.28548947
98FGFR30.28296289
99PRKCH0.28029286
100AKT20.27496809
101SGK20.27397888
102ERN10.27351451
103TEC0.25277737
104CSK0.24763933
105RPS6KA30.24036035
106SYK0.24013266
107EPHA30.23666731
108CAMK2G0.23123331
109SGK30.21857862
110PRKCD0.20860620
111FES0.20382253
112GRK10.20252833
113RPS6KA10.19862888
114PTK20.16446326
115MAPK70.16102339
116PRKCQ0.15983589
117RET0.14996669
118JAK20.14534643
119LATS20.13033280
120MAPKAPK20.11171351
121TBK10.11125648
122PRKG10.10379202
123MTOR0.10071933
124ADRBK10.09967361
125ICK0.09420659
126MARK30.08711637
127SIK10.07002837
128SGK10.06730188

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000206.08602422
22-Oxocarboxylic acid metabolism_Homo sapiens_hsa012104.16596920
3Cardiac muscle contraction_Homo sapiens_hsa042603.98873556
4Dilated cardiomyopathy_Homo sapiens_hsa054143.80822485
5Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054103.70722041
6Propanoate metabolism_Homo sapiens_hsa006403.44430846
7Fatty acid degradation_Homo sapiens_hsa000713.27509028
8Parkinsons disease_Homo sapiens_hsa050123.04040606
9Oxidative phosphorylation_Homo sapiens_hsa001902.95528960
10Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.94759978
11Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.63968047
12Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.51019391
13Fatty acid metabolism_Homo sapiens_hsa012122.37693321
14Carbon metabolism_Homo sapiens_hsa012002.33540523
15Alzheimers disease_Homo sapiens_hsa050102.24626352
16Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.14745914
17Viral myocarditis_Homo sapiens_hsa054161.91768399
18Huntingtons disease_Homo sapiens_hsa050161.88802017
19Pyruvate metabolism_Homo sapiens_hsa006201.64157022
20Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.57588224
21Fatty acid elongation_Homo sapiens_hsa000621.42736070
22Butanoate metabolism_Homo sapiens_hsa006501.24758022
23Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.21926198
24PPAR signaling pathway_Homo sapiens_hsa033201.13232042
25Insulin resistance_Homo sapiens_hsa049311.09844062
26cGMP-PKG signaling pathway_Homo sapiens_hsa040221.05636007
27Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.99070311
28Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.97553805
29Focal adhesion_Homo sapiens_hsa045100.96349230
30Tryptophan metabolism_Homo sapiens_hsa003800.96225985
31Adipocytokine signaling pathway_Homo sapiens_hsa049200.95371541
32Starch and sucrose metabolism_Homo sapiens_hsa005000.89861244
33beta-Alanine metabolism_Homo sapiens_hsa004100.87199141
34ECM-receptor interaction_Homo sapiens_hsa045120.86224555
35Lysine degradation_Homo sapiens_hsa003100.85682235
36Glucagon signaling pathway_Homo sapiens_hsa049220.75940067
37HIF-1 signaling pathway_Homo sapiens_hsa040660.73508870
38Biosynthesis of amino acids_Homo sapiens_hsa012300.71946586
39Insulin signaling pathway_Homo sapiens_hsa049100.71912812
40Adherens junction_Homo sapiens_hsa045200.70101623
41Morphine addiction_Homo sapiens_hsa050320.69906830
42Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.68474854
43Calcium signaling pathway_Homo sapiens_hsa040200.66763964
44Vascular smooth muscle contraction_Homo sapiens_hsa042700.65933219
45Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.65663713
46Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.65564030
47Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.62265327
48Tight junction_Homo sapiens_hsa045300.61632471
49Arginine and proline metabolism_Homo sapiens_hsa003300.61291871
50Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.59535267
51AMPK signaling pathway_Homo sapiens_hsa041520.57557012
52Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.57195688
53Phospholipase D signaling pathway_Homo sapiens_hsa040720.56058288
54Leukocyte transendothelial migration_Homo sapiens_hsa046700.54066449
55Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.53740326
56Arachidonic acid metabolism_Homo sapiens_hsa005900.50887567
57Renin secretion_Homo sapiens_hsa049240.50461363
58Thyroid hormone signaling pathway_Homo sapiens_hsa049190.50204830
59Peroxisome_Homo sapiens_hsa041460.49937658
60Linoleic acid metabolism_Homo sapiens_hsa005910.49843842
61alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.49624353
62cAMP signaling pathway_Homo sapiens_hsa040240.48260656
63Oxytocin signaling pathway_Homo sapiens_hsa049210.48242664
64Type II diabetes mellitus_Homo sapiens_hsa049300.47680319
65Arginine biosynthesis_Homo sapiens_hsa002200.47645867
66GABAergic synapse_Homo sapiens_hsa047270.47519788
67Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.45080243
68Glycerophospholipid metabolism_Homo sapiens_hsa005640.44941777
69Galactose metabolism_Homo sapiens_hsa000520.44568657
70Fatty acid biosynthesis_Homo sapiens_hsa000610.44417425
71Amoebiasis_Homo sapiens_hsa051460.42972990
72GnRH signaling pathway_Homo sapiens_hsa049120.42768795
73Small cell lung cancer_Homo sapiens_hsa052220.39577017
74Prion diseases_Homo sapiens_hsa050200.39536000
75Complement and coagulation cascades_Homo sapiens_hsa046100.38566776
76Phenylalanine metabolism_Homo sapiens_hsa003600.38086263
77Sulfur metabolism_Homo sapiens_hsa009200.36599358
78Serotonergic synapse_Homo sapiens_hsa047260.36400393
79Regulation of actin cytoskeleton_Homo sapiens_hsa048100.36250731
80Histidine metabolism_Homo sapiens_hsa003400.35912196
81AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.34744036
82Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.34704584
83Longevity regulating pathway - mammal_Homo sapiens_hsa042110.33783500
84Platelet activation_Homo sapiens_hsa046110.33569667
85Gastric acid secretion_Homo sapiens_hsa049710.33064768
86Toxoplasmosis_Homo sapiens_hsa051450.32036190
87Fat digestion and absorption_Homo sapiens_hsa049750.31116668
88Cholinergic synapse_Homo sapiens_hsa047250.31099578
89Salivary secretion_Homo sapiens_hsa049700.30871772
90Central carbon metabolism in cancer_Homo sapiens_hsa052300.28698983
91Proteoglycans in cancer_Homo sapiens_hsa052050.27132822
92Circadian rhythm_Homo sapiens_hsa047100.25435347
93Amphetamine addiction_Homo sapiens_hsa050310.25108497
94Ovarian steroidogenesis_Homo sapiens_hsa049130.24882390
95Dorso-ventral axis formation_Homo sapiens_hsa043200.24875954
96Thyroid hormone synthesis_Homo sapiens_hsa049180.21887307
97Cocaine addiction_Homo sapiens_hsa050300.21093092
98Regulation of autophagy_Homo sapiens_hsa041400.18982711
99Metabolic pathways_Homo sapiens_hsa011000.18967043
100Fructose and mannose metabolism_Homo sapiens_hsa000510.18888992
101Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.18719206
102Long-term potentiation_Homo sapiens_hsa047200.17991599
103Protein digestion and absorption_Homo sapiens_hsa049740.17494554
104Renal cell carcinoma_Homo sapiens_hsa052110.16916685
105PI3K-Akt signaling pathway_Homo sapiens_hsa041510.16859774
106Pancreatic secretion_Homo sapiens_hsa049720.15898086
107Rap1 signaling pathway_Homo sapiens_hsa040150.14518959
108Insulin secretion_Homo sapiens_hsa049110.14264474
109Taste transduction_Homo sapiens_hsa047420.12275380
110Aldosterone synthesis and secretion_Homo sapiens_hsa049250.11291604
111Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.09494400
112VEGF signaling pathway_Homo sapiens_hsa043700.09467873
113Notch signaling pathway_Homo sapiens_hsa043300.09322707
114ABC transporters_Homo sapiens_hsa020100.08744494
115Pathways in cancer_Homo sapiens_hsa052000.07265964
116FoxO signaling pathway_Homo sapiens_hsa040680.05126031
117Salmonella infection_Homo sapiens_hsa051320.04451089
118Circadian entrainment_Homo sapiens_hsa047130.04067954
119Gap junction_Homo sapiens_hsa045400.02593016
120Caffeine metabolism_Homo sapiens_hsa002320.02564345
121Glycerolipid metabolism_Homo sapiens_hsa005610.02379803
122Tyrosine metabolism_Homo sapiens_hsa003500.01329978
123Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960-0.0297546
124Bile secretion_Homo sapiens_hsa04976-0.0118554
125Melanoma_Homo sapiens_hsa05218-0.0019504

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