TRIM63

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 member of the RING zinc finger protein family found in striated muscle and iris. The product of this gene is an E3 ubiquitin ligase that localizes to the Z-line and M-line lattices of myofibrils. This protein plays an important role in the atrophy of skeletal and cardiac muscle and is required for the degradation of myosin heavy chain proteins, myosin light chain, myosin binding protein, and for muscle-type creatine kinase. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1sarcomere organization (GO:0045214)9.16959512
2actin-myosin filament sliding (GO:0033275)8.88776271
3muscle filament sliding (GO:0030049)8.88776271
4cardiac myofibril assembly (GO:0055003)7.83769625
5myofibril assembly (GO:0030239)7.81286538
6regulation of skeletal muscle contraction (GO:0014819)7.64265169
7negative regulation of potassium ion transmembrane transporter activity (GO:1901017)7.52462515
8positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)7.47993921
9actin-mediated cell contraction (GO:0070252)7.33746700
10sarcoplasmic reticulum calcium ion transport (GO:0070296)7.12572589
11regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)6.81748417
12negative regulation of potassium ion transmembrane transport (GO:1901380)6.68823867
13cardiac muscle contraction (GO:0060048)6.48602024
14plasma membrane repair (GO:0001778)6.22887978
15tricarboxylic acid cycle (GO:0006099)6.03391425
16striated muscle contraction (GO:0006941)6.00733823
17regulation of relaxation of muscle (GO:1901077)5.96979711
18regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO5.96488096
19cardiac muscle cell development (GO:0055013)5.96078367
20regulation of actin filament-based movement (GO:1903115)5.96067761
21actomyosin structure organization (GO:0031032)5.90271232
22regulation of cell communication by electrical coupling (GO:0010649)5.88482812
23carnitine shuttle (GO:0006853)5.78594289
24regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)5.74067467
25regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.73683789
26cardiac cell development (GO:0055006)5.61351945
27skeletal muscle contraction (GO:0003009)5.56740413
28actin filament-based movement (GO:0030048)5.49053436
29regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)5.41730403
30heart contraction (GO:0060047)5.27883136
31heart process (GO:0003015)5.27883136
32cardiac muscle tissue morphogenesis (GO:0055008)5.27850869
33regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)5.23906584
34regulation of acyl-CoA biosynthetic process (GO:0050812)5.21566328
35adult heart development (GO:0007512)5.14195327
36ventricular cardiac muscle cell action potential (GO:0086005)5.10764891
37cardiac muscle hypertrophy (GO:0003300)5.06267569
38fatty acid transmembrane transport (GO:1902001)4.92834342
39regulation of sarcomere organization (GO:0060297)4.90037358
40muscle tissue morphogenesis (GO:0060415)4.88563360
41striated muscle hypertrophy (GO:0014897)4.88193799
42regulation of striated muscle contraction (GO:0006942)4.87864964
43regulation of cofactor metabolic process (GO:0051193)4.74771893
44regulation of coenzyme metabolic process (GO:0051196)4.74771893
45bundle of His cell to Purkinje myocyte communication (GO:0086069)4.70601797
46ventricular cardiac muscle tissue morphogenesis (GO:0055010)4.70481127
47heart trabecula formation (GO:0060347)4.62034676
48creatine metabolic process (GO:0006600)4.58413049
49regulation of membrane repolarization (GO:0060306)4.52006712
50response to inactivity (GO:0014854)4.47945810
51response to epinephrine (GO:0071871)4.38007139
52muscle hypertrophy (GO:0014896)4.32926635
53carnitine transmembrane transport (GO:1902603)4.25815307
54* response to stimulus involved in regulation of muscle adaptation (GO:0014874)4.22808873
55* muscle contraction (GO:0006936)4.19097636
56mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.14764023
57regulation of the force of heart contraction (GO:0002026)4.08729072
58mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.07014472
59positive regulation of calcium ion transmembrane transporter activity (GO:1901021)4.02267015
60skeletal muscle fiber development (GO:0048741)3.97625014
61respiratory electron transport chain (GO:0022904)3.96996917
62oxidative phosphorylation (GO:0006119)3.91856687
63cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.91698530
64striated muscle cell development (GO:0055002)3.91446285
65ATP synthesis coupled proton transport (GO:0015986)3.90243557
66energy coupled proton transport, down electrochemical gradient (GO:0015985)3.90243557
67amino-acid betaine transport (GO:0015838)3.90029521
68carnitine transport (GO:0015879)3.90029521
69* muscle system process (GO:0003012)3.87650496
70cell communication involved in cardiac conduction (GO:0086065)3.85239048
71electron transport chain (GO:0022900)3.84598183
72regulation of sulfur metabolic process (GO:0042762)3.84494124
73glycogen catabolic process (GO:0005980)3.82740555
74myotube cell development (GO:0014904)3.79409514
75cardiac muscle adaptation (GO:0014887)3.75223623
76cardiac muscle hypertrophy in response to stress (GO:0014898)3.75223623
77muscle hypertrophy in response to stress (GO:0003299)3.75223623
78cardiac muscle cell action potential (GO:0086001)3.75049098
79cardiac muscle cell action potential involved in contraction (GO:0086002)3.74059700
80response to muscle activity (GO:0014850)3.72650802
812-oxoglutarate metabolic process (GO:0006103)3.72469429
82skeletal muscle tissue development (GO:0007519)3.71871788
83negative regulation of potassium ion transport (GO:0043267)3.69248242
84NADH metabolic process (GO:0006734)3.67810900
85regulation of cardiac muscle contraction (GO:0055117)3.67626786
86positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.64780636
87regulation of cardiac muscle cell contraction (GO:0086004)3.62913421
88negative regulation of protein localization to cell surface (GO:2000009)3.62031716
89regulation of heart rate (GO:0002027)3.61609522
90regulation of calcium ion transmembrane transport (GO:1903169)3.61479688
91regulation of calcium ion transmembrane transporter activity (GO:1901019)3.61479688
92skeletal muscle tissue regeneration (GO:0043403)3.59932242
93regulation of ATP catabolic process (GO:1903289)3.58966839
94regulation of ATPase activity (GO:0043462)3.58966839
95regulation of sequestering of triglyceride (GO:0010889)3.58628000
96positive regulation of cation channel activity (GO:2001259)3.56715772
97glucan catabolic process (GO:0009251)3.56460197
98muscle cell cellular homeostasis (GO:0046716)3.55474746
99pyrimidine ribonucleoside catabolic process (GO:0046133)3.55083699
100regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.49572606
101negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.48952402
102negative regulation of calcium ion transmembrane transport (GO:1903170)3.48564603
103negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.48564603
104muscle fiber development (GO:0048747)3.48097443
105* striated muscle adaptation (GO:0014888)3.47169096
106regulation of muscle system process (GO:0090257)3.44898139
107glucan biosynthetic process (GO:0009250)3.43109623
108glycogen biosynthetic process (GO:0005978)3.43109623
109* skeletal muscle adaptation (GO:0043501)3.37159807
110cellular response to epinephrine stimulus (GO:0071872)3.36175255
111muscle cell development (GO:0055001)3.35964042
112membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.35369757
113regulation of muscle contraction (GO:0006937)3.35352803
114cellular polysaccharide catabolic process (GO:0044247)3.35220149
115cell communication by electrical coupling (GO:0010644)3.33024193
116regulation of heart contraction (GO:0008016)3.31377860
117response to caffeine (GO:0031000)3.23269246
118muscle cell fate commitment (GO:0042693)3.22426651
119relaxation of cardiac muscle (GO:0055119)3.15298710
120regulation of fatty acid oxidation (GO:0046320)3.14466426
121polysaccharide catabolic process (GO:0000272)3.11154094
122gluconeogenesis (GO:0006094)3.10932919

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1PPARG_19300518_ChIP-PET_3T3-L1_Mouse6.53973491
2EP300_21415370_ChIP-Seq_HL-1_Mouse4.75062015
3ESRRB_18555785_ChIP-Seq_MESCs_Mouse4.47875196
4TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse4.26717109
5BP1_19119308_ChIP-ChIP_Hs578T_Human4.25179746
6TBX20_22080862_ChIP-Seq_HEART_Mouse4.24903849
7TBX20_22328084_ChIP-Seq_HEART_Mouse4.24903849
8ESR1_20079471_ChIP-ChIP_T-47D_Human3.71789402
9RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.52663406
10MEF2A_21415370_ChIP-Seq_HL-1_Mouse3.23456542
11CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.96728284
12ZNF263_19887448_ChIP-Seq_K562_Human2.93811570
13TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.70781691
14RARG_19884340_ChIP-ChIP_MEFs_Mouse2.64213163
15GATA4_21415370_ChIP-Seq_HL-1_Mouse2.55426275
16PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.38850097
17CDX2_19796622_ChIP-Seq_MESCs_Mouse2.36872072
18NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.89804716
19EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.88816477
20NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.87566229
21THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.85116361
22PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.82927804
23EZH2_22144423_ChIP-Seq_EOC_Human1.69228939
24TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.65484669
25GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.61992154
26ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.58082199
27ESR2_21235772_ChIP-Seq_MCF-7_Human1.54485318
28* BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.53495836
29ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.49555880
30CLOCK_20551151_ChIP-Seq_293T_Human1.48811674
31CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.39117106
32NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.37330359
33BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.34444085
34NFIB_24661679_ChIP-Seq_LUNG_Mouse1.33781334
35FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.26764268
36* CTCF_27219007_Chip-Seq_Bcells_Human1.23196500
37EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.22753473
38PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.21198282
39TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.20151607
40PPAR_26484153_Chip-Seq_NCI-H1993_Human1.19584415
41GBX2_23144817_ChIP-Seq_PC3_Human1.18191263
42E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.17928891
43KDM2B_26808549_Chip-Seq_SUP-B15_Human1.16740383
44PPARA_22158963_ChIP-Seq_LIVER_Mouse1.16097936
45DROSHA_22980978_ChIP-Seq_HELA_Human1.15370825
46ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.14642205
47VDR_22108803_ChIP-Seq_LS180_Human1.13264981
48RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.12027181
49TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.08149246
50SUZ12_27294783_Chip-Seq_NPCs_Mouse1.07241951
51STAT3_1855785_ChIP-Seq_MESCs_Mouse1.06674164
52SPI1_20517297_ChIP-Seq_HL60_Human1.06515203
53TP63_22573176_ChIP-Seq_HFKS_Human1.06458971
54KDM2B_26808549_Chip-Seq_DND41_Human1.06445790
55TRIM28_21343339_ChIP-Seq_HEK293_Human1.06044077
56LXR_22158963_ChIP-Seq_LIVER_Mouse1.05849835
57SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.05141020
58EZH2_27294783_Chip-Seq_NPCs_Mouse1.03176769
59ISL1_27105846_Chip-Seq_CPCs_Mouse1.01842689
60SMC3_22415368_ChIP-Seq_MEFs_Mouse1.00217978
61SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.00184860
62EZH2_27294783_Chip-Seq_ESCs_Mouse0.99676721
63ZNF274_21170338_ChIP-Seq_K562_Hela0.98638480
64AUTS2_25519132_ChIP-Seq_293T-REX_Human0.97720183
65ESR1_21235772_ChIP-Seq_MCF-7_Human0.97175410
66OCT4_20526341_ChIP-Seq_ESCs_Human0.97172093
67NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.96716090
68SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.95741945
69CJUN_26792858_Chip-Seq_BT549_Human0.95200793
70GATA2_21666600_ChIP-Seq_HMVEC_Human0.94777653
71ATF3_27146783_Chip-Seq_COLON_Human0.93885529
72PCGF2_27294783_Chip-Seq_ESCs_Mouse0.93779435
73FOXH1_21741376_ChIP-Seq_ESCs_Human0.92996817
74HIF1A_21447827_ChIP-Seq_MCF-7_Human0.92801534
75ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.91346088
76CTCF_21964334_ChIP-Seq_BJAB-B_Human0.90997300
77PCGF2_27294783_Chip-Seq_NPCs_Mouse0.90718396
78RARB_27405468_Chip-Seq_BRAIN_Mouse0.90252975
79CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.90034399
80SOX9_24532713_ChIP-Seq_HFSC_Mouse0.89690212
81KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.89138644
82LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.88815931
83SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.88562101
84MTF2_20144788_ChIP-Seq_MESCs_Mouse0.88479973
85OCT4_21477851_ChIP-Seq_ESCs_Mouse0.88219939
86NR3C1_23031785_ChIP-Seq_PC12_Mouse0.87984876
87PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.87045833
88* RACK7_27058665_Chip-Seq_MCF-7_Human0.86582401
89RUNX1_27514584_Chip-Seq_MCF-7_Human0.86419819
90P68_20966046_ChIP-Seq_HELA_Human0.85929395
91GATA1_22025678_ChIP-Seq_K562_Human0.85811718
92GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.85685895
93CRX_20693478_ChIP-Seq_RETINA_Mouse0.85034468
94RBPJ_22232070_ChIP-Seq_NCS_Mouse0.84591494
95TP53_16413492_ChIP-PET_HCT116_Human0.84572136
96STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.84364924
97CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.83872872
98* GATA1_19941826_ChIP-Seq_K562_Human0.83490374
99NRF2_20460467_ChIP-Seq_MEFs_Mouse0.83427519
100NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.83427519
101FOXA2_19822575_ChIP-Seq_HepG2_Human0.81711443
102CTNNB1_20460455_ChIP-Seq_HCT116_Human0.81361402
103ELK3_25401928_ChIP-Seq_HUVEC_Human0.80964494
104HTT_18923047_ChIP-ChIP_STHdh_Human0.80874476
105CTCF_21964334_Chip-Seq_Bcells_Human0.80598687
106MYC_27129775_Chip-Seq_CORNEA_Mouse0.80508351
107SMAD3_21741376_ChIP-Seq_HESCs_Human0.80337306
108EZH2_18974828_ChIP-Seq_MESCs_Mouse0.79621178
109RNF2_18974828_ChIP-Seq_MESCs_Mouse0.79621178
110GATA1_19941827_ChIP-Seq_MEL86_Mouse0.79332803
111SMC1_22415368_ChIP-Seq_MEFs_Mouse0.79110204
112PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.78769105
113YY1_22570637_ChIP-Seq_MALME-3M_Human0.78757724
114NR3C1_21868756_ChIP-Seq_MCF10A_Human0.78629175
115TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.78616177
116SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.78542574
117WT1_25993318_ChIP-Seq_PODOCYTE_Human0.78374879
118SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.77523848
119P63_26484246_Chip-Seq_KERATINOCYTES_Human0.77519664
120LXR_22292898_ChIP-Seq_THP-1_Human0.77505994
121PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.77184656
122TCF7L2_21901280_ChIP-Seq_H4IIE_Rat0.77059463
123RXR_22158963_ChIP-Seq_LIVER_Mouse0.76722288
124UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.76320278
125SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.76141119
126GF1_26923725_Chip-Seq_HPCs_Mouse0.75553622
127TDRD3_21172665_ChIP-Seq_MCF-7_Human0.75504350
128SMAD4_21741376_ChIP-Seq_HESCs_Human0.75052693
129GATA1_19941827_ChIP-Seq_MEL_Mouse0.74386702
130BCAT_22108803_ChIP-Seq_LS180_Human0.74069276
131NFE2_27457419_Chip-Seq_LIVER_Mouse0.73887783
132* TP53_23651856_ChIP-Seq_MEFs_Mouse0.73761641
133FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.73616831
134* SOX2_21211035_ChIP-Seq_LN229_Gbm0.73564306
135FLI1_27457419_Chip-Seq_LIVER_Mouse0.72392407
136* GATA2_19941826_ChIP-Seq_K562_Human0.71425117
137TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.71285884
138SMAD4_21799915_ChIP-Seq_A2780_Human0.70932481
139GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.70239500
140AR_19668381_ChIP-Seq_PC3_Human0.70019800
141ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.69000686
142DNAJC2_21179169_ChIP-ChIP_NT2_Human0.68688502
143JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.68209218
144E2F1_20622854_ChIP-Seq_HELA_Human0.68051182
145BCL6_27268052_Chip-Seq_Bcells_Human0.67635991

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003646_muscle_fatigue6.23329236
2MP0002837_dystrophic_cardiac_calcinosis6.17437335
3MP0000751_myopathy5.45325793
4MP0004084_abnormal_cardiac_muscle5.09522248
5MP0000749_muscle_degeneration4.72479763
6MP0004036_abnormal_muscle_relaxation4.42959130
7MP0004215_abnormal_myocardial_fiber4.17569265
8MP0004145_abnormal_muscle_electrophysio4.11863691
9MP0005330_cardiomyopathy3.65970953
10* MP0004087_abnormal_muscle_fiber3.28692509
11MP0002106_abnormal_muscle_physiology3.13678794
12MP0000750_abnormal_muscle_regeneration3.02830200
13MP0005620_abnormal_muscle_contractility2.96034680
14MP0002972_abnormal_cardiac_muscle2.90061359
15MP0004130_abnormal_muscle_cell2.86307812
16MP0000747_muscle_weakness2.67765100
17* MP0002269_muscular_atrophy2.58616742
18MP0003137_abnormal_impulse_conducting2.57753292
19MP0005369_muscle_phenotype2.57069064
20MP0008775_abnormal_heart_ventricle2.49392633
21* MP0000759_abnormal_skeletal_muscle2.46806710
22MP0010630_abnormal_cardiac_muscle2.41722264
23MP0004484_altered_response_of2.41568408
24MP0001544_abnormal_cardiovascular_syste2.34405497
25MP0005385_cardiovascular_system_phenoty2.34405497
26MP0004233_abnormal_muscle_weight2.15992703
27MP0006138_congestive_heart_failure2.08675205
28MP0003828_pulmonary_edema1.99308735
29MP0006036_abnormal_mitochondrial_physio1.93367948
30MP0003221_abnormal_cardiomyocyte_apopto1.93178552
31MP0004085_abnormal_heartbeat1.73355440
32MP0002332_abnormal_exercise_endurance1.69139622
33MP0000372_irregular_coat_pigmentation1.68830827
34MP0003950_abnormal_plasma_membrane1.61616994
35MP0004510_myositis1.55068087
36MP0002127_abnormal_cardiovascular_syste1.52508001
37MP0005666_abnormal_adipose_tissue1.42988153
38MP0005670_abnormal_white_adipose1.29784807
39MP0005171_absent_coat_pigmentation1.27839811
40MP0002108_abnormal_muscle_morphology1.25714803
41MP0003567_abnormal_fetal_cardiomyocyte1.18980770
42MP0000733_abnormal_muscle_development1.16858068
43MP0004185_abnormal_adipocyte_glucose1.16033548
44MP0003136_yellow_coat_color1.13819182
45MP0006035_abnormal_mitochondrial_morpho1.04346160
46MP0002234_abnormal_pharynx_morphology1.04114926
47* MP0000266_abnormal_heart_morphology1.04111667
48MP0000343_altered_response_to1.03411999
49MP0002822_catalepsy1.00164619
50MP0005375_adipose_tissue_phenotype0.97978326
51MP0001661_extended_life_span0.97526609
52MP0005266_abnormal_metabolism0.91143137
53MP0005165_increased_susceptibility_to0.89598367
54MP0002971_abnormal_brown_adipose0.73889281
55MP0003279_aneurysm0.73454413
56MP0003806_abnormal_nucleotide_metabolis0.70159858
57MP0010368_abnormal_lymphatic_system0.70114616
58MP0004043_abnormal_pH_regulation0.70013305
59MP0002128_abnormal_blood_circulation0.68930381
60MP0003705_abnormal_hypodermis_morpholog0.66706072
61MP0004270_analgesia0.66418029
62MP0000230_abnormal_systemic_arterial0.65728301
63MP0000013_abnormal_adipose_tissue0.63609860
64MP0003566_abnormal_cell_adhesion0.57881106
65MP0005451_abnormal_body_composition0.56492454
66MP0000003_abnormal_adipose_tissue0.55178882
67MP0009840_abnormal_foam_cell0.55060723
68MP0004147_increased_porphyrin_level0.54590336
69MP0001879_abnormal_lymphatic_vessel0.52642537
70MP0005623_abnormal_meninges_morphology0.52135691
71MP0005408_hypopigmentation0.50963414
72MP0002078_abnormal_glucose_homeostasis0.48499306
73MP0008569_lethality_at_weaning0.47854780
74MP0000767_abnormal_smooth_muscle0.45728082
75MP0005319_abnormal_enzyme/_coenzyme0.44533598
76MP0008961_abnormal_basal_metabolism0.41691846
77MP0005334_abnormal_fat_pad0.39290477
78MP0002925_abnormal_cardiovascular_devel0.39288048
79MP0005646_abnormal_pituitary_gland0.38474928
80MP0002877_abnormal_melanocyte_morpholog0.37866659
81MP0002638_abnormal_pupillary_reflex0.34684152
82MP0003879_abnormal_hair_cell0.33545524
83MP0004381_abnormal_hair_follicle0.33509678
84MP0005275_abnormal_skin_tensile0.32739323
85MP0002909_abnormal_adrenal_gland0.32540827
86MP0008004_abnormal_stomach_pH0.32364368
87MP0001784_abnormal_fluid_regulation0.31430378
88MP0005187_abnormal_penis_morphology0.31093121
89MP0003948_abnormal_gas_homeostasis0.30499127
90MP0004142_abnormal_muscle_tone0.29404366
91MP0001614_abnormal_blood_vessel0.28801486
92MP0005535_abnormal_body_temperature0.28715387
93MP0003984_embryonic_growth_retardation0.28046086
94MP0004272_abnormal_basement_membrane0.27271510
95MP0002088_abnormal_embryonic_growth/wei0.27100842
96MP0008438_abnormal_cutaneous_collagen0.27024983
97MP0005332_abnormal_amino_acid0.26658073
98MP0003045_fibrosis0.25748661
99MP0001984_abnormal_olfaction0.25559006
100MP0009115_abnormal_fat_cell0.23982299
101MP0005584_abnormal_enzyme/coenzyme_acti0.23770072
102MP0001299_abnormal_eye_distance/0.23372348
103MP0005452_abnormal_adipose_tissue0.22273687
104MP0001727_abnormal_embryo_implantation0.21248351
105MP0005386_behavior/neurological_phenoty0.21054974
106MP0004924_abnormal_behavior0.21054974
107MP0003195_calcinosis0.20953674
108MP0005377_hearing/vestibular/ear_phenot0.20932244
109MP0003878_abnormal_ear_physiology0.20932244
110MP0005409_darkened_coat_color0.20118292
111MP0002118_abnormal_lipid_homeostasis0.19442610
112MP0002896_abnormal_bone_mineralization0.19080556
113MP0000762_abnormal_tongue_morphology0.18867475
114MP0009384_cardiac_valve_regurgitation0.18458592
115MP0005376_homeostasis/metabolism_phenot0.18140467
116MP0009780_abnormal_chondrocyte_physiolo0.17641325
117MP0003656_abnormal_erythrocyte_physiolo0.16851785
118MP0005167_abnormal_blood-brain_barrier0.16710718
119MP0003941_abnormal_skin_development0.16281795
120MP0005257_abnormal_intraocular_pressure0.15326386
121MP0001853_heart_inflammation0.14918553
122MP0000249_abnormal_blood_vessel0.14749257
123MP0000579_abnormal_nail_morphology0.14344361
124MP0002066_abnormal_motor_capabilities/c0.13289530

Predicted human phenotypes

RankGene SetZ-score
1Exercise-induced myalgia (HP:0003738)7.34850640
2Exercise-induced muscle cramps (HP:0003710)7.10727369
3Sudden death (HP:0001699)7.07139230
4Calf muscle hypertrophy (HP:0008981)6.82209335
5Muscle hypertrophy of the lower extremities (HP:0008968)6.68236905
6Muscle fiber splitting (HP:0003555)6.17082963
7Ventricular tachycardia (HP:0004756)5.83838868
8Hyporeflexia of lower limbs (HP:0002600)5.49265923
9Abnormality of the calf musculature (HP:0001430)5.48802962
10Myoglobinuria (HP:0002913)5.39462277
11Abnormality of the left ventricular outflow tract (HP:0011103)5.31193516
12Subaortic stenosis (HP:0001682)5.31193516
13Muscle fiber inclusion bodies (HP:0100299)5.20215870
14Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)5.17252403
15Atrial fibrillation (HP:0005110)4.95052195
16EMG: myopathic abnormalities (HP:0003458)4.79751788
17Primary atrial arrhythmia (HP:0001692)4.61827646
18Lipoatrophy (HP:0100578)4.61805191
19Supraventricular tachycardia (HP:0004755)4.45888977
20Type 1 muscle fiber predominance (HP:0003803)4.42276457
21Difficulty running (HP:0009046)4.40814343
22Supraventricular arrhythmia (HP:0005115)4.36273956
23Nemaline bodies (HP:0003798)4.35181352
24Increased connective tissue (HP:0009025)4.29818262
25Asymmetric septal hypertrophy (HP:0001670)4.25501833
26Rhabdomyolysis (HP:0003201)4.25135282
27Centrally nucleated skeletal muscle fibers (HP:0003687)4.20005125
28Right ventricular cardiomyopathy (HP:0011663)4.05907643
29Syncope (HP:0001279)3.88504555
30Dilated cardiomyopathy (HP:0001644)3.86242052
31Myotonia (HP:0002486)3.86158356
32Bundle branch block (HP:0011710)3.84370553
33Palpitations (HP:0001962)3.70989699
34Prolonged QT interval (HP:0001657)3.66029589
35Muscle stiffness (HP:0003552)3.53047119
36Ventricular arrhythmia (HP:0004308)3.43297624
37Distal arthrogryposis (HP:0005684)3.34716566
38Heart block (HP:0012722)3.21653348
39Difficulty climbing stairs (HP:0003551)3.19005277
40Myopathic facies (HP:0002058)3.06350907
41Round ear (HP:0100830)3.06104655
42Abnormal atrioventricular conduction (HP:0005150)3.03240718
43Areflexia of lower limbs (HP:0002522)3.00670977
44Neck muscle weakness (HP:0000467)2.98633023
45Atrioventricular block (HP:0001678)2.93259164
46Ventricular fibrillation (HP:0001663)2.91126311
47Distal lower limb muscle weakness (HP:0009053)2.85800042
48Increased variability in muscle fiber diameter (HP:0003557)2.84151146
49Abnormality of skeletal muscle fiber size (HP:0012084)2.79945661
50Abnormal mitochondria in muscle tissue (HP:0008316)2.68317929
51Rimmed vacuoles (HP:0003805)2.67138211
52Abnormal EKG (HP:0003115)2.65129723
53Bulbar palsy (HP:0001283)2.65014697
54Acute necrotizing encephalopathy (HP:0006965)2.64483730
55Ulnar deviation of the wrist (HP:0003049)2.64463001
56Left ventricular hypertrophy (HP:0001712)2.55618337
57Foot dorsiflexor weakness (HP:0009027)2.49773543
58Hepatic necrosis (HP:0002605)2.41514115
59Limb-girdle muscle atrophy (HP:0003797)2.40840487
60EMG: neuropathic changes (HP:0003445)2.32558627
61Hypoplastic ischia (HP:0003175)2.30569731
62Muscular dystrophy (HP:0003560)2.29802448
63Ketoacidosis (HP:0001993)2.29378759
64Palmoplantar keratoderma (HP:0000982)2.27953902
65Acute encephalopathy (HP:0006846)2.27116916
66Generalized muscle weakness (HP:0003324)2.25558276
67Abnormal finger flexion creases (HP:0006143)2.24614234
68Weak cry (HP:0001612)2.20511910
69Gowers sign (HP:0003391)2.19680084
70Mildly elevated creatine phosphokinase (HP:0008180)2.19573157
71Exercise intolerance (HP:0003546)2.18045761
72Progressive macrocephaly (HP:0004481)2.17969936
73Hypoglycemic coma (HP:0001325)2.10358818
74Lower limb amyotrophy (HP:0007210)2.10001715
75Abnormality of the shoulder girdle musculature (HP:0001435)2.09052581
76Fetal akinesia sequence (HP:0001989)2.08048661
77Hepatocellular necrosis (HP:0001404)2.06954170
78Mitochondrial inheritance (HP:0001427)2.06117270
79Calcaneovalgus deformity (HP:0001848)2.06095978
80Distal lower limb amyotrophy (HP:0008944)2.05127335
81Increased muscle lipid content (HP:0009058)2.04333441
82Scapular winging (HP:0003691)2.03281683
83Facial diplegia (HP:0001349)2.02876451
84Testicular atrophy (HP:0000029)2.01697418
85Cerebral edema (HP:0002181)2.01204633
86Ragged-red muscle fibers (HP:0003200)2.00422624
87Spinal rigidity (HP:0003306)2.00138349
88Absent phalangeal crease (HP:0006109)1.99730971
89Abnormality of the ischium (HP:0003174)1.99292207
90Increased CSF lactate (HP:0002490)1.96853194
91Respiratory insufficiency due to muscle weakness (HP:0002747)1.96835716
92Frequent falls (HP:0002359)1.96832942
93Hyperkalemia (HP:0002153)1.95964759
94Conjunctival hamartoma (HP:0100780)1.93965664
95Hip contracture (HP:0003273)1.93211745
96Steppage gait (HP:0003376)1.92665454
97Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.92648568
98Progressive muscle weakness (HP:0003323)1.92397042
99Abnormality of dicarboxylic acid metabolism (HP:0010995)1.91977540
100Dicarboxylic aciduria (HP:0003215)1.91977540
101Waddling gait (HP:0002515)1.89516837
102Proximal amyotrophy (HP:0007126)1.89118663
103Abnormality of alanine metabolism (HP:0010916)1.88308192
104Hyperalaninemia (HP:0003348)1.88308192
105Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.88308192
106Abnormality of the foot musculature (HP:0001436)1.88305818
107Deformed tarsal bones (HP:0008119)1.86375784
108Limb-girdle muscle weakness (HP:0003325)1.85840966
109Abnormality of fatty-acid metabolism (HP:0004359)1.83967751
110Increased intramyocellular lipid droplets (HP:0012240)1.81885084
111Abnormality of the neuromuscular junction (HP:0003398)1.81476019
112Fatigable weakness (HP:0003473)1.81476019
113Malignant hyperthermia (HP:0002047)1.81104101
114Large for gestational age (HP:0001520)1.80574819
115Slender build (HP:0001533)1.78263722
116Abnormality of the hip-girdle musculature (HP:0001445)1.54068422
117Abnormality of the musculature of the pelvis (HP:0001469)1.54068422
118Abnormality of the calcaneus (HP:0008364)1.50350192
119Sudden cardiac death (HP:0001645)1.49965653
120Shoulder girdle muscle weakness (HP:0003547)1.49570266
121Nonprogressive disorder (HP:0003680)1.48874948
122Pelvic girdle muscle weakness (HP:0003749)1.47389356
123Congestive heart failure (HP:0001635)1.45821440
124Type 2 muscle fiber atrophy (HP:0003554)1.44614984
125Dysmetric saccades (HP:0000641)1.43937812

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TTN6.23854140
2OBSCN5.53714528
3PHKG14.85243955
4PHKG24.85243955
5PDK33.16631200
6PDK43.16631200
7DMPK2.99165076
8MYLK2.79836075
9TRIB32.69238728
10LMTK22.66411470
11PKN22.46332118
12MUSK2.45024852
13NEK12.43099290
14BCKDK2.31942678
15PINK12.30082119
16PIK3CA2.22128689
17NME12.19415394
18STK242.00661516
19PDK21.97164044
20TIE11.94416321
21MAP3K71.51866958
22MAP2K31.50363352
23EEF2K1.44993652
24PIK3CG1.34775345
25MAPK121.30912112
26ZAK1.26770366
27ILK1.16638811
28GRK71.09930202
29PRKAA21.05915692
30PRKAA11.01514500
31TRPM71.00667086
32INSRR1.00440937
33CAMK2D1.00431351
34MARK10.99333049
35PRKD10.99181511
36PAK30.93683124
37MAPKAPK30.92994998
38CCNB10.90211276
39STK38L0.87007427
40ROCK10.83895152
41MAP3K50.82618104
42CDC42BPA0.73377329
43LIMK10.70516846
44MAP3K30.70503481
45PKN10.70427621
46NEK90.70190598
47STK40.67123512
48ERBB30.66847368
49RIPK10.64736679
50FLT30.63907235
51MAPK40.62783969
52WNK40.60495451
53MOS0.59944851
54AKT20.58519395
55CAMK40.57493286
56MAP2K10.55621461
57EPHA30.55618028
58MAP2K40.53884264
59DAPK30.50744563
60MAP2K60.50696847
61TGFBR20.47404970
62PRKACB0.47035731
63CAMK2B0.46121700
64SGK20.45980334
65STK380.45668183
66WNK10.44189053
67ROCK20.43704438
68EPHB10.43598547
69CAMK2G0.42412491
70CAMK2A0.41731682
71DYRK1B0.40715259
72PAK20.39523951
73RPS6KC10.39236542
74RPS6KL10.39236542
75LATS10.39171741
76PDGFRA0.39113839
77PTK2B0.38106653
78NME20.37282241
79PRKACA0.36712957
80ICK0.36358740
81TBK10.34806805
82CAMK10.34636907
83RPS6KB20.33678990
84PTK60.33066310
85RPS6KA60.32882392
86SIK10.31130230
87PRKACG0.30977604
88MAPK110.30607639
89KDR0.29857650
90PDPK10.29092175
91KSR20.28745073
92SGK4940.28528942
93SGK2230.28528942
94TAOK20.27003984
95MARK20.26926324
96MAPK100.25380118
97PDK10.24153582
98RPS6KA10.24152413
99SGK10.23467790
100RPS6KB10.22883595
101MAPK70.22126257
102PRKG10.21931290
103PRKCE0.21734311
104UHMK10.21078389
105MTOR0.20806593
106SGK30.19182553
107RPS6KA30.19025451
108LATS20.14603421
109ZAP700.14285807
110STK390.12656543
111MAPK130.11776518
112STK110.11506386
113MAP3K110.10665054
114NLK0.09649441
115PRKCH0.09471206
116FER0.09018174
117MAP3K100.08884097
118PRKG20.08534428
119EPHB20.08520065
120TAOK10.08338391
121MAP3K60.07987934
122MAP3K10.07869454
123JAK10.06360830
124RPS6KA20.04923862
125FGFR30.04545417
126MARK30.04265927

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000205.72119524
2Cardiac muscle contraction_Homo sapiens_hsa042604.47549337
32-Oxocarboxylic acid metabolism_Homo sapiens_hsa012104.11748910
4Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054104.06332766
5Dilated cardiomyopathy_Homo sapiens_hsa054143.92650824
6Propanoate metabolism_Homo sapiens_hsa006403.22588043
7Parkinsons disease_Homo sapiens_hsa050123.18808687
8Oxidative phosphorylation_Homo sapiens_hsa001903.06879510
9Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.90872436
10Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.89521403
11Fatty acid degradation_Homo sapiens_hsa000712.56212673
12Carbon metabolism_Homo sapiens_hsa012002.43037230
13Alzheimers disease_Homo sapiens_hsa050102.40577673
14Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.25432836
15Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.14229936
16Huntingtons disease_Homo sapiens_hsa050161.94883056
17Fatty acid metabolism_Homo sapiens_hsa012121.91771031
18Viral myocarditis_Homo sapiens_hsa054161.88514707
19Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.77839009
20Pyruvate metabolism_Homo sapiens_hsa006201.69248489
21Starch and sucrose metabolism_Homo sapiens_hsa005001.44541368
22Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.40274549
23Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.39442919
24Glucagon signaling pathway_Homo sapiens_hsa049221.32339394
25Insulin resistance_Homo sapiens_hsa049311.29307390
26Insulin signaling pathway_Homo sapiens_hsa049101.19217228
27Biosynthesis of amino acids_Homo sapiens_hsa012301.15532484
28Butanoate metabolism_Homo sapiens_hsa006501.14226131
29Adipocytokine signaling pathway_Homo sapiens_hsa049201.12985339
30cGMP-PKG signaling pathway_Homo sapiens_hsa040221.06787110
31Fatty acid elongation_Homo sapiens_hsa000621.06401982
32Calcium signaling pathway_Homo sapiens_hsa040200.97505267
33PPAR signaling pathway_Homo sapiens_hsa033200.94794764
34Oxytocin signaling pathway_Homo sapiens_hsa049210.93018172
35Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.90283176
36Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.90278347
37AMPK signaling pathway_Homo sapiens_hsa041520.89826152
38Galactose metabolism_Homo sapiens_hsa000520.84619746
39HIF-1 signaling pathway_Homo sapiens_hsa040660.82001819
40Circadian rhythm_Homo sapiens_hsa047100.81696560
41Arginine and proline metabolism_Homo sapiens_hsa003300.81532534
42Focal adhesion_Homo sapiens_hsa045100.75974437
43Fructose and mannose metabolism_Homo sapiens_hsa000510.75777708
44Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.70260253
45Tight junction_Homo sapiens_hsa045300.69503670
46beta-Alanine metabolism_Homo sapiens_hsa004100.68398464
47Lysine degradation_Homo sapiens_hsa003100.67663975
48Vascular smooth muscle contraction_Homo sapiens_hsa042700.66221238
49Arginine biosynthesis_Homo sapiens_hsa002200.65455930
50Tryptophan metabolism_Homo sapiens_hsa003800.61828258
51Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.58467708
52Central carbon metabolism in cancer_Homo sapiens_hsa052300.54728558
53Type II diabetes mellitus_Homo sapiens_hsa049300.54728452
54Longevity regulating pathway - mammal_Homo sapiens_hsa042110.54619197
55Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.51784403
56Long-term potentiation_Homo sapiens_hsa047200.50948972
57Fatty acid biosynthesis_Homo sapiens_hsa000610.48313523
58Melanogenesis_Homo sapiens_hsa049160.45464510
59Peroxisome_Homo sapiens_hsa041460.44108233
60Adherens junction_Homo sapiens_hsa045200.43335622
61Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.43177370
62Gastric acid secretion_Homo sapiens_hsa049710.42737165
63Nitrogen metabolism_Homo sapiens_hsa009100.42020968
64Salivary secretion_Homo sapiens_hsa049700.40592641
65Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.39498137
66Thyroid hormone signaling pathway_Homo sapiens_hsa049190.39388587
67ABC transporters_Homo sapiens_hsa020100.39037930
68Renin secretion_Homo sapiens_hsa049240.37786597
69Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.36856453
70Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.35328444
71Phenylalanine metabolism_Homo sapiens_hsa003600.34320181
72Insulin secretion_Homo sapiens_hsa049110.33113722
73Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.32653517
74ECM-receptor interaction_Homo sapiens_hsa045120.31587055
75Regulation of autophagy_Homo sapiens_hsa041400.31249207
76cAMP signaling pathway_Homo sapiens_hsa040240.30565768
77FoxO signaling pathway_Homo sapiens_hsa040680.30292683
78Amoebiasis_Homo sapiens_hsa051460.30198890
79Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.29480726
80Sulfur relay system_Homo sapiens_hsa041220.27459339
81Regulation of actin cytoskeleton_Homo sapiens_hsa048100.24636846
82Metabolic pathways_Homo sapiens_hsa011000.24486571
83mTOR signaling pathway_Homo sapiens_hsa041500.24104172
84Leukocyte transendothelial migration_Homo sapiens_hsa046700.23060493
85GnRH signaling pathway_Homo sapiens_hsa049120.22417351
86Amphetamine addiction_Homo sapiens_hsa050310.20886718
87Histidine metabolism_Homo sapiens_hsa003400.20066288
88Platelet activation_Homo sapiens_hsa046110.18222879
89Renal cell carcinoma_Homo sapiens_hsa052110.17581871
90Pentose phosphate pathway_Homo sapiens_hsa000300.17407145
91Proteoglycans in cancer_Homo sapiens_hsa052050.17126133
92Aldosterone synthesis and secretion_Homo sapiens_hsa049250.16872121
93VEGF signaling pathway_Homo sapiens_hsa043700.15971415
94Prolactin signaling pathway_Homo sapiens_hsa049170.15954352
95Glycerophospholipid metabolism_Homo sapiens_hsa005640.14555756
96MAPK signaling pathway_Homo sapiens_hsa040100.12959662
97Circadian entrainment_Homo sapiens_hsa047130.12865854
98Olfactory transduction_Homo sapiens_hsa047400.12416536
99Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.11320475
100Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.11217460
101Tyrosine metabolism_Homo sapiens_hsa003500.09970936
102Cysteine and methionine metabolism_Homo sapiens_hsa002700.08610115
103GABAergic synapse_Homo sapiens_hsa047270.08283162
104Dorso-ventral axis formation_Homo sapiens_hsa043200.08249748
105Ovarian steroidogenesis_Homo sapiens_hsa049130.08212425
106AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.08065871
107Morphine addiction_Homo sapiens_hsa050320.05980246
108Pancreatic secretion_Homo sapiens_hsa049720.03515864
109Toxoplasmosis_Homo sapiens_hsa051450.02483847
110Gap junction_Homo sapiens_hsa045400.01982870
111Cholinergic synapse_Homo sapiens_hsa047250.01694059
112Fat digestion and absorption_Homo sapiens_hsa049750.01572465
113Acute myeloid leukemia_Homo sapiens_hsa05221-0.0781117
114alpha-Linolenic acid metabolism_Homo sapiens_hsa00592-0.0602184
115PI3K-Akt signaling pathway_Homo sapiens_hsa04151-0.0476183
116Notch signaling pathway_Homo sapiens_hsa04330-0.0433794
117Bile secretion_Homo sapiens_hsa04976-0.0290562
118Small cell lung cancer_Homo sapiens_hsa05222-0.0237415
119Glycerolipid metabolism_Homo sapiens_hsa00561-0.0087906

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