MYBPC1

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 myosin-binding protein C family. Myosin-binding protein C family members are myosin-associated proteins found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The encoded protein is the slow skeletal muscle isoform of myosin-binding protein C and plays an important role in muscle contraction by recruiting muscle-type creatine kinase to myosin filaments. Mutations in this gene are associated with distal arthrogryposis type I. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1plasma membrane repair (GO:0001778)9.70725097
2* actin filament-based movement (GO:0030048)8.48738896
3skeletal muscle adaptation (GO:0043501)8.43129036
4skeletal muscle fiber development (GO:0048741)8.28569811
5myotube cell development (GO:0014904)7.20745189
6striated muscle contraction (GO:0006941)7.13902712
7sarcomere organization (GO:0045214)6.51699858
8negative regulation of potassium ion transmembrane transporter activity (GO:1901017)6.48694604
9skeletal muscle tissue regeneration (GO:0043403)6.44186146
10myofibril assembly (GO:0030239)6.01858881
11pyrimidine ribonucleoside catabolic process (GO:0046133)5.90536235
12positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)5.90287977
13response to stimulus involved in regulation of muscle adaptation (GO:0014874)5.88684008
14cytidine deamination (GO:0009972)5.83478839
15cytidine metabolic process (GO:0046087)5.83478839
16cytidine catabolic process (GO:0006216)5.83478839
17* muscle contraction (GO:0006936)5.77795580
18creatine metabolic process (GO:0006600)5.55272719
19regulation of cell communication by electrical coupling (GO:0010649)5.26124777
20regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.21892878
21response to inactivity (GO:0014854)5.16872106
22muscle fiber development (GO:0048747)5.14583330
23regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)5.14145494
24glycogen catabolic process (GO:0005980)5.13728264
25* muscle system process (GO:0003012)5.09767355
26negative regulation of potassium ion transmembrane transport (GO:1901380)5.08313097
27regulation of relaxation of muscle (GO:1901077)5.07363335
28response to muscle activity (GO:0014850)4.98183056
29striated muscle atrophy (GO:0014891)4.90497560
30carnitine shuttle (GO:0006853)4.90189877
31glucan catabolic process (GO:0009251)4.79952445
32cardiac muscle hypertrophy (GO:0003300)4.77175880
33actomyosin structure organization (GO:0031032)4.76818835
34striated muscle adaptation (GO:0014888)4.66243728
35regulation of actin filament-based movement (GO:1903115)4.63062058
36regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)4.62072123
37purine nucleotide salvage (GO:0032261)4.55653782
38striated muscle hypertrophy (GO:0014897)4.55041624
39NADH metabolic process (GO:0006734)4.52938841
40glycogen biosynthetic process (GO:0005978)4.46461203
41glucan biosynthetic process (GO:0009250)4.46461203
42cellular polysaccharide catabolic process (GO:0044247)4.45643165
43regulation of skeletal muscle cell differentiation (GO:2001014)4.44064419
44muscle cell cellular homeostasis (GO:0046716)4.38283642
45polysaccharide catabolic process (GO:0000272)4.30469185
46muscle organ development (GO:0007517)4.24510957
47muscle atrophy (GO:0014889)4.23565439
48regulation of acyl-CoA biosynthetic process (GO:0050812)4.20626800
49muscle structure development (GO:0061061)4.18880908
50regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)4.18357543
51fatty acid transmembrane transport (GO:1902001)4.15524513
52positive regulation of mitochondrial calcium ion concentration (GO:0051561)4.11747025
53muscle hypertrophy (GO:0014896)4.09027582
54cardiac muscle contraction (GO:0060048)4.03437233
55skeletal muscle tissue development (GO:0007519)3.99440673
56striated muscle cell development (GO:0055002)3.96743811
57fructose metabolic process (GO:0006000)3.95412652
58positive regulation of myotube differentiation (GO:0010831)3.92863064
59myoblast fusion (GO:0007520)3.85723692
60negative regulation of muscle hypertrophy (GO:0014741)3.84556115
61regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.83822604
62muscle organ morphogenesis (GO:0048644)3.82940557
63muscle tissue morphogenesis (GO:0060415)3.82307382
64IMP metabolic process (GO:0046040)3.82287500
65myotube differentiation (GO:0014902)3.80978247
66adult heart development (GO:0007512)3.80182711
672-oxoglutarate metabolic process (GO:0006103)3.79200530
68regulation of coenzyme metabolic process (GO:0051196)3.78810764
69regulation of cofactor metabolic process (GO:0051193)3.78810764
70muscle adaptation (GO:0043500)3.74736751
71cardiac myofibril assembly (GO:0055003)3.72735506
72glycogen metabolic process (GO:0005977)3.72654650
73positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.71630572
74muscle cell fate commitment (GO:0042693)3.68920347
75negative regulation of protein localization to cell surface (GO:2000009)3.67157214
76cellular glucan metabolic process (GO:0006073)3.64920448
77glucan metabolic process (GO:0044042)3.64920448
78tricarboxylic acid cycle (GO:0006099)3.62985348
79carnitine transmembrane transport (GO:1902603)3.62680956
80gluconeogenesis (GO:0006094)3.62387487
81regulation of myoblast differentiation (GO:0045661)3.59484636
82cardiac muscle tissue morphogenesis (GO:0055008)3.57537948
83regulation of calcium ion transmembrane transporter activity (GO:1901019)3.52566649
84regulation of calcium ion transmembrane transport (GO:1903169)3.52566649
85response to activity (GO:0014823)3.49974573
86negative regulation of calcium ion transmembrane transport (GO:1903170)3.47320391
87negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.47320391
88syncytium formation by plasma membrane fusion (GO:0000768)3.45078012
89striated muscle tissue development (GO:0014706)3.44267256
90negative regulation of muscle contraction (GO:0045932)3.44152338
91syncytium formation (GO:0006949)3.40992056
92muscle cell development (GO:0055001)3.40833624
93neuromuscular synaptic transmission (GO:0007274)3.38880128
94regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.37883814
95cardiac muscle hypertrophy in response to stress (GO:0014898)3.37476449
96muscle hypertrophy in response to stress (GO:0003299)3.37476449
97cardiac muscle adaptation (GO:0014887)3.37476449
98regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.35689351
99neuronal action potential propagation (GO:0019227)3.34090376
100regulation of skeletal muscle fiber development (GO:0048742)3.31632121
101negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)3.31463887
102positive regulation of myoblast differentiation (GO:0045663)3.29478675
103carnitine transport (GO:0015879)3.29460811
104amino-acid betaine transport (GO:0015838)3.29460811
105cellular response to dexamethasone stimulus (GO:0071549)3.28239113
106negative regulation of skeletal muscle tissue development (GO:0048642)3.28226010
107regulation of striated muscle contraction (GO:0006942)3.25859493
108hexose biosynthetic process (GO:0019319)3.25072450
109relaxation of muscle (GO:0090075)3.22122421
110negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.21988067
111cardiac muscle cell development (GO:0055013)3.19590888
112neuromuscular junction development (GO:0007528)3.14414129
113regulation of membrane repolarization (GO:0060306)3.13889483
114regulation of sulfur metabolic process (GO:0042762)3.10666877
115skeletal muscle cell differentiation (GO:0035914)3.06591911
116response to dexamethasone (GO:0071548)3.04795700
117cardiac cell development (GO:0055006)2.98849032
118regulation of muscle system process (GO:0090257)2.95794386
119regulation of myotube differentiation (GO:0010830)2.93200049
120* muscle filament sliding (GO:0030049)13.9014110
121* actin-myosin filament sliding (GO:0033275)13.9014110
122skeletal muscle contraction (GO:0003009)12.3013143
123regulation of skeletal muscle contraction (GO:0014819)11.9792200
124* actin-mediated cell contraction (GO:0070252)11.3651287
125sarcoplasmic reticulum calcium ion transport (GO:0070296)10.8310433

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human6.79970799
2PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.99089265
3TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.78239649
4ESR1_20079471_ChIP-ChIP_T-47D_Human3.57862902
5TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.96057466
6ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.55328833
7RARG_19884340_ChIP-ChIP_MEFs_Mouse2.51074252
8* TBX20_22328084_ChIP-Seq_HEART_Mouse2.47902753
9* TBX20_22080862_ChIP-Seq_HEART_Mouse2.47902753
10TP63_17297297_ChIP-ChIP_HaCaT_Human2.42446958
11CDX2_19796622_ChIP-Seq_MESCs_Mouse2.37348070
12ZNF263_19887448_ChIP-Seq_K562_Human2.36825440
13ZNF652_21678463_ChIP-ChIP_ZR75-1_Human2.15547629
14PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.15205604
15ESR1_21235772_ChIP-Seq_MCF-7_Human2.13902457
16GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.12817073
17ZNF274_21170338_ChIP-Seq_K562_Hela1.97836983
18ESR2_21235772_ChIP-Seq_MCF-7_Human1.92036148
19MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.83288722
20THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.82124949
21BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.79187313
22EP300_21415370_ChIP-Seq_HL-1_Mouse1.77849864
23BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.75560636
24EZH2_22144423_ChIP-Seq_EOC_Human1.74660168
25AR_21572438_ChIP-Seq_LNCaP_Human1.66117154
26CTCF_27219007_Chip-Seq_Bcells_Human1.66048370
27CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.61214543
28TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.58318465
29EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.52209624
30CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.49112668
31NFIB_24661679_ChIP-Seq_LUNG_Mouse1.48543256
32CTCF_21964334_ChIP-Seq_BJAB-B_Human1.47820266
33CLOCK_20551151_ChIP-Seq_293T_Human1.46935303
34SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.44184531
35* PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.43162742
36DNAJC2_21179169_ChIP-ChIP_NT2_Human1.42133632
37P63_26484246_Chip-Seq_KERATINOCYTES_Human1.37761724
38NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.36139705
39IGF1R_20145208_ChIP-Seq_DFB_Human1.31985463
40FOXH1_21741376_ChIP-Seq_ESCs_Human1.31630652
41DROSHA_22980978_ChIP-Seq_HELA_Human1.29287219
42TRIM28_21343339_ChIP-Seq_HEK293_Human1.24545255
43CJUN_26792858_Chip-Seq_BT549_Human1.23005517
44GBX2_23144817_ChIP-Seq_PC3_Human1.22247270
45NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.18597070
46ZFP281_18757296_ChIP-ChIP_E14_Mouse1.18330567
47RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.17062560
48RBPJ_22232070_ChIP-Seq_NCS_Mouse1.12975140
49TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.12643942
50SA1_27219007_Chip-Seq_Bcells_Human1.11552141
51CTCF_21964334_Chip-Seq_Bcells_Human1.11520653
52EZH2_27294783_Chip-Seq_ESCs_Mouse1.11052054
53OCT4_20526341_ChIP-Seq_ESCs_Human1.10787709
54RACK7_27058665_Chip-Seq_MCF-7_Human1.10686442
55SMC1_22415368_ChIP-Seq_MEFs_Mouse1.06990188
56CBX2_27304074_Chip-Seq_ESCs_Mouse1.06819672
57TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.05272534
58ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.04978515
59UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.04436583
60LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.04259145
61RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.04224375
62KDM2B_26808549_Chip-Seq_DND41_Human1.04205667
63TP53_20018659_ChIP-ChIP_R1E_Mouse1.04097858
64STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.02535371
65PPAR_26484153_Chip-Seq_NCI-H1993_Human1.02418018
66TDRD3_21172665_ChIP-Seq_MCF-7_Human1.00979544
67WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.00570624
68SMC3_22415368_ChIP-Seq_MEFs_Mouse1.00540341
69MYC_27129775_Chip-Seq_CORNEA_Mouse0.98866111
70ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.98660469
71SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.98614287
72RNF2_18974828_ChIP-Seq_MESCs_Mouse0.97355073
73EZH2_18974828_ChIP-Seq_MESCs_Mouse0.97355073
74YY1_22570637_ChIP-Seq_MALME-3M_Human0.97193817
75KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.97039607
76* RARB_27405468_Chip-Seq_BRAIN_Mouse0.96911249
77GATA4_21415370_ChIP-Seq_HL-1_Mouse0.96873979
78ESR1_17901129_ChIP-ChIP_LIVER_Mouse0.96612090
79SPI1_20517297_ChIP-Seq_HL60_Human0.95651090
80SUZ12_27294783_Chip-Seq_NPCs_Mouse0.95178679
81NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.92898318
82GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.92354731
83EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.92291354
84STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.92097412
85P300_27058665_Chip-Seq_ZR-75-30cells_Human0.92090728
86* IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.92066538
87* CBP_20019798_ChIP-Seq_JUKART_Human0.92066538
88MTF2_20144788_ChIP-Seq_MESCs_Mouse0.91205129
89TP63_22573176_ChIP-Seq_HFKS_Human0.91139466
90* SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.90623717
91NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.90014382
92NRF2_20460467_ChIP-Seq_MEFs_Mouse0.90014382
93* CRX_20693478_ChIP-Seq_RETINA_Mouse0.89999220
94HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.89502664
95CREB1_26743006_Chip-Seq_LNCaP_Human0.89402131
96EZH2_27294783_Chip-Seq_NPCs_Mouse0.89316125
97CTCF_27219007_Chip-Seq_ERYTHROID_Human0.89179622
98P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.89000342
99KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.88636002
100SOX2_21211035_ChIP-Seq_LN229_Gbm0.88459390
101PPARA_22158963_ChIP-Seq_LIVER_Mouse0.88367404
102CEBPB_22108803_ChIP-Seq_LS180_Human0.88243146
103RAC3_21632823_ChIP-Seq_H3396_Human0.87772812
104LXR_22158963_ChIP-Seq_LIVER_Mouse0.87618809
105P53_22127205_ChIP-Seq_FIBROBLAST_Human0.87487063
106ATF3_27146783_Chip-Seq_COLON_Human0.87332373
107GATA1_19941827_ChIP-Seq_MEL_Mouse0.86952662
108PCGF2_27294783_Chip-Seq_ESCs_Mouse0.86574861
109OCT1_27270436_Chip-Seq_PROSTATE_Human0.86288222
110SUZ12_27294783_Chip-Seq_ESCs_Mouse0.86264104
111E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.85885405
112HIF1A_21447827_ChIP-Seq_MCF-7_Human0.85814453
113RXR_22158963_ChIP-Seq_LIVER_Mouse0.85717038
114LXR_22292898_ChIP-Seq_THP-1_Human0.85076205
115PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.84442339
116PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.84377843
117NANOG_20526341_ChIP-Seq_ESCs_Human0.84113498
118ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.83270599
119SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.82938373
120E2F1_20622854_ChIP-Seq_HELA_Human0.82889249
121FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.82873978
122* CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.82016074
123GATA6_21074721_ChIP-Seq_CACO-2_Human0.81735074
124GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.81724923
125* OCT4_21477851_ChIP-Seq_ESCs_Mouse0.81644723
126ERG_21242973_ChIP-ChIP_JURKAT_Human0.81122017
127P68_20966046_ChIP-Seq_HELA_Human0.80363180
128NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.80319081
129STAT1_20625510_ChIP-Seq_HELA_Human0.79976656
130EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.79654922
131MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.77768087
132HTT_18923047_ChIP-ChIP_STHdh_Human0.76890257
133ER_23166858_ChIP-Seq_MCF-7_Human0.74714357
134SMAD3_21741376_ChIP-Seq_HESCs_Human0.74076274
135MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.73349768
136NR3C1_23031785_ChIP-Seq_PC12_Mouse0.72823523
137* KLF5_20875108_ChIP-Seq_MESCs_Mouse0.72089212
138JARID2_20075857_ChIP-Seq_MESCs_Mouse0.71013712
139PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.70627082
140GATA1_19941827_ChIP-Seq_MEL86_Mouse0.70416597
141LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.70355346

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004145_abnormal_muscle_electrophysio7.44510175
2MP0000749_muscle_degeneration6.58845529
3MP0000751_myopathy6.02121710
4MP0003646_muscle_fatigue5.58265690
5MP0000747_muscle_weakness4.61326602
6MP0002106_abnormal_muscle_physiology4.16476522
7MP0000759_abnormal_skeletal_muscle3.80640688
8MP0004036_abnormal_muscle_relaxation3.74082312
9MP0002837_dystrophic_cardiac_calcinosis3.70451972
10MP0004087_abnormal_muscle_fiber3.56117304
11MP0005369_muscle_phenotype3.51533011
12MP0000750_abnormal_muscle_regeneration3.41768198
13MP0002269_muscular_atrophy3.39701075
14MP0005620_abnormal_muscle_contractility3.08939900
15MP0004130_abnormal_muscle_cell2.88477337
16MP0000733_abnormal_muscle_development2.79150245
17MP0004233_abnormal_muscle_weight2.50610797
18MP0002108_abnormal_muscle_morphology2.22594014
19MP0005330_cardiomyopathy2.17513139
20MP0002332_abnormal_exercise_endurance2.03942803
21MP0004084_abnormal_cardiac_muscle1.96793314
22MP0003950_abnormal_plasma_membrane1.74984635
23MP0004270_analgesia1.69711911
24MP0000013_abnormal_adipose_tissue1.69173162
25MP0006036_abnormal_mitochondrial_physio1.67885231
26MP0004484_altered_response_of1.65864162
27MP0004215_abnormal_myocardial_fiber1.63198327
28MP0005275_abnormal_skin_tensile1.56135282
29MP0004185_abnormal_adipocyte_glucose1.52488846
30MP0002972_abnormal_cardiac_muscle1.50684661
31MP0002971_abnormal_brown_adipose1.40491547
32MP0005666_abnormal_adipose_tissue1.30701109
33MP0010630_abnormal_cardiac_muscle1.30544087
34MP0001661_extended_life_span1.15077167
35MP0005375_adipose_tissue_phenotype1.10246829
36MP0003705_abnormal_hypodermis_morpholog1.07992100
37MP0002234_abnormal_pharynx_morphology1.00731130
38MP0003221_abnormal_cardiomyocyte_apopto0.98665135
39MP0004134_abnormal_chest_morphology0.98433340
40MP0005266_abnormal_metabolism0.92596926
41MP0001544_abnormal_cardiovascular_syste0.91879063
42MP0005385_cardiovascular_system_phenoty0.91879063
43MP0002822_catalepsy0.90017985
44MP0001299_abnormal_eye_distance/0.88754883
45MP0000762_abnormal_tongue_morphology0.84901657
46MP0000003_abnormal_adipose_tissue0.84466656
47MP0008438_abnormal_cutaneous_collagen0.80721400
48MP0003137_abnormal_impulse_conducting0.78979496
49MP0003806_abnormal_nucleotide_metabolis0.78140533
50MP0009250_abnormal_appendicular_skeleto0.76437106
51MP0006035_abnormal_mitochondrial_morpho0.73483892
52MP0003879_abnormal_hair_cell0.70595774
53MP0000372_irregular_coat_pigmentation0.67140256
54MP0002796_impaired_skin_barrier0.63669378
55MP0008775_abnormal_heart_ventricle0.62049545
56MP0003045_fibrosis0.60311247
57MP0004147_increased_porphyrin_level0.60210738
58MP0002127_abnormal_cardiovascular_syste0.59500024
59MP0008961_abnormal_basal_metabolism0.58864059
60MP0000579_abnormal_nail_morphology0.57266747
61MP0004510_myositis0.56475933
62MP0005503_abnormal_tendon_morphology0.56363035
63MP0008569_lethality_at_weaning0.54927604
64MP0006138_congestive_heart_failure0.53555559
65MP0000266_abnormal_heart_morphology0.52647856
66MP0004043_abnormal_pH_regulation0.49751936
67MP0002896_abnormal_bone_mineralization0.49170338
68MP0002078_abnormal_glucose_homeostasis0.47067462
69MP0000343_altered_response_to0.46585897
70MP0010030_abnormal_orbit_morphology0.46517400
71MP0005334_abnormal_fat_pad0.45502295
72MP0003656_abnormal_erythrocyte_physiolo0.44383707
73MP0002114_abnormal_axial_skeleton0.44159486
74MP0005167_abnormal_blood-brain_barrier0.43033927
75MP0005452_abnormal_adipose_tissue0.41508855
76MP0002089_abnormal_postnatal_growth/wei0.40728845
77MP0001243_abnormal_dermal_layer0.38871857
78MP0005376_homeostasis/metabolism_phenot0.37997731
79MP0001346_abnormal_lacrimal_gland0.37988622
80MP0009672_abnormal_birth_weight0.36508471
81MP0005670_abnormal_white_adipose0.35578426
82MP0003385_abnormal_body_wall0.33945783
83MP0000383_abnormal_hair_follicle0.33591925
84MP0002638_abnormal_pupillary_reflex0.32888074
85MP0001849_ear_inflammation0.32813815
86MP0003948_abnormal_gas_homeostasis0.32031038
87MP0005187_abnormal_penis_morphology0.31825762
88MP0005423_abnormal_somatic_nervous0.31250823
89MP0004085_abnormal_heartbeat0.31115141
90MP0005083_abnormal_biliary_tract0.30487007
91MP0005535_abnormal_body_temperature0.30470152
92MP0005501_abnormal_skin_physiology0.30251618
93MP0003959_abnormal_lean_body0.30027612
94MP0004197_abnormal_fetal_growth/weight/0.28971478
95MP0002060_abnormal_skin_morphology0.28864065
96MP0001943_abnormal_respiration0.27569393
97MP0003567_abnormal_fetal_cardiomyocyte0.27446778
98MP0005584_abnormal_enzyme/coenzyme_acti0.27188266
99MP0005166_decreased_susceptibility_to0.26414911
100MP0006276_abnormal_autonomic_nervous0.26329289
101MP0005451_abnormal_body_composition0.26234428
102MP0009780_abnormal_chondrocyte_physiolo0.26061121
103MP0004272_abnormal_basement_membrane0.26037482
104MP0000230_abnormal_systemic_arterial0.25379782
105MP0005319_abnormal_enzyme/_coenzyme0.25112973
106MP0003828_pulmonary_edema0.24656326
107MP0005165_increased_susceptibility_to0.24430672
108MP0002249_abnormal_larynx_morphology0.24052606
109MP0009115_abnormal_fat_cell0.23632000
110MP0003755_abnormal_palate_morphology0.21341774
111MP0002128_abnormal_blood_circulation0.21247828
112MP0002734_abnormal_mechanical_nocicepti0.20959720
113MP0004142_abnormal_muscle_tone0.20945231
114MP0002066_abnormal_motor_capabilities/c0.20504461
115MP0008770_decreased_survivor_rate0.20084704
116MP0005332_abnormal_amino_acid0.17869393
117MP0000467_abnormal_esophagus_morphology0.17749390
118MP0004858_abnormal_nervous_system0.16380044

Predicted human phenotypes

RankGene SetZ-score
1Type 1 muscle fiber predominance (HP:0003803)8.89422470
2Exercise-induced myalgia (HP:0003738)7.68809826
3* Distal arthrogryposis (HP:0005684)7.38741443
4Myopathic facies (HP:0002058)6.82875394
5Exercise-induced muscle cramps (HP:0003710)6.66924287
6Round ear (HP:0100830)6.27026686
7Muscle hypertrophy of the lower extremities (HP:0008968)6.16381143
8Ulnar deviation of the wrist (HP:0003049)6.02902684
9Calf muscle hypertrophy (HP:0008981)5.78019737
10Calcaneovalgus deformity (HP:0001848)5.32073331
11Muscle fiber splitting (HP:0003555)5.15637616
12Deformed tarsal bones (HP:0008119)4.86559916
13Difficulty running (HP:0009046)4.85048541
14Absent phalangeal crease (HP:0006109)4.79317106
15Hyporeflexia of lower limbs (HP:0002600)4.78682092
16EMG: myopathic abnormalities (HP:0003458)4.63436779
17Abnormality of the calf musculature (HP:0001430)4.20986635
18Myoglobinuria (HP:0002913)4.19728132
19Increased connective tissue (HP:0009025)4.16569026
20Neck muscle weakness (HP:0000467)4.07038652
21Abnormality of skeletal muscle fiber size (HP:0012084)4.03888401
22Muscle stiffness (HP:0003552)4.02008611
23Abnormal finger flexion creases (HP:0006143)4.01868934
24Frequent falls (HP:0002359)3.69161514
25Rimmed vacuoles (HP:0003805)3.62595624
26Myotonia (HP:0002486)3.58663182
27Increased variability in muscle fiber diameter (HP:0003557)3.50329267
28Rhabdomyolysis (HP:0003201)3.48305828
29Malignant hyperthermia (HP:0002047)3.45611269
30Slender build (HP:0001533)3.32266590
31Abnormality of the calcaneus (HP:0008364)3.23225587
32Difficulty climbing stairs (HP:0003551)3.14353677
33Subaortic stenosis (HP:0001682)3.12499569
34Abnormality of the left ventricular outflow tract (HP:0011103)3.12499569
35Areflexia of lower limbs (HP:0002522)2.98462267
36Mildly elevated creatine phosphokinase (HP:0008180)2.92714506
37Shoulder girdle muscle weakness (HP:0003547)2.91237429
38Pelvic girdle muscle weakness (HP:0003749)2.89821011
39Abnormality of the musculature of the pelvis (HP:0001469)2.79349252
40Abnormality of the hip-girdle musculature (HP:0001445)2.79349252
41Fatigable weakness (HP:0003473)2.71919637
42Abnormality of the neuromuscular junction (HP:0003398)2.71919637
43Bundle branch block (HP:0011710)2.71858079
44Fetal akinesia sequence (HP:0001989)2.69905668
45EMG: neuropathic changes (HP:0003445)2.68226487
46Sudden death (HP:0001699)2.67583278
47Spinal rigidity (HP:0003306)2.67098751
48Bulbar palsy (HP:0001283)2.67000091
49Asymmetric septal hypertrophy (HP:0001670)2.59609684
50Centrally nucleated skeletal muscle fibers (HP:0003687)2.58393155
51Facial diplegia (HP:0001349)2.53865449
52Generalized muscle weakness (HP:0003324)2.53306027
53Metatarsus adductus (HP:0001840)2.49263256
54Distal lower limb muscle weakness (HP:0009053)2.47972542
55Gowers sign (HP:0003391)2.43517270
56Scapular winging (HP:0003691)2.38433492
57Hyperkalemia (HP:0002153)2.33783408
58Hip contracture (HP:0003273)2.33390755
59Weak cry (HP:0001612)2.33145998
60Proximal amyotrophy (HP:0007126)2.31282728
61Popliteal pterygium (HP:0009756)2.30484147
62Progressive muscle weakness (HP:0003323)2.26749779
63Muscular dystrophy (HP:0003560)2.20767536
64Abnormality of the shoulder girdle musculature (HP:0001435)2.17323925
65Limb-girdle muscle weakness (HP:0003325)2.07327946
66Distal lower limb amyotrophy (HP:0008944)2.05778486
67Hypoplastic ischia (HP:0003175)2.03408085
68Waddling gait (HP:0002515)2.02783751
69Paralysis (HP:0003470)2.02536139
70Nonprogressive disorder (HP:0003680)2.01001164
71Muscle fiber inclusion bodies (HP:0100299)11.2496368
72Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)10.7457102
73Nemaline bodies (HP:0003798)10.4981934
74Limb-girdle muscle atrophy (HP:0003797)1.96862879
75Respiratory insufficiency due to muscle weakness (HP:0002747)1.84146703
76Abnormality of the ischium (HP:0003174)1.77991003
77Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.76061271
78Trismus (HP:0000211)1.75921890
79Heart block (HP:0012722)1.71896192
80Achilles tendon contracture (HP:0001771)1.70069028
81Type 2 muscle fiber atrophy (HP:0003554)1.68373532
82Tarsal synostosis (HP:0008368)1.68074477
83* Ulnar deviation of finger (HP:0009465)1.64430435
84Amniotic constriction ring (HP:0009775)1.64030884
85Abnormality of placental membranes (HP:0011409)1.64030884
86Abnormal atrioventricular conduction (HP:0005150)1.61808264
87Limited hip movement (HP:0008800)1.59865693
88Exercise intolerance (HP:0003546)1.55439264
89Congenital hip dislocation (HP:0001374)1.54723814
90Lower limb amyotrophy (HP:0007210)1.54644665
91Abnormality of the Achilles tendon (HP:0005109)1.53695289
92Symphalangism affecting the phalanges of the hand (HP:0009773)1.52166435
93Synostosis involving bones of the feet (HP:0009140)1.51853053
94Synostosis involving bones of the lower limbs (HP:0009138)1.51853053
95Muscle fiber atrophy (HP:0100295)1.50375338
96Increased density of long bones (HP:0006392)1.50060271
97Ragged-red muscle fibers (HP:0003200)1.49804509
98Long clavicles (HP:0000890)1.48227970
99Foot dorsiflexor weakness (HP:0009027)1.46697589
100Ventricular tachycardia (HP:0004756)1.45601279
101Steppage gait (HP:0003376)1.45507184
102Dilated cardiomyopathy (HP:0001644)1.44694417
103Lipoatrophy (HP:0100578)1.43194733
104Abnormality of the foot musculature (HP:0001436)1.41580497
105Ventricular arrhythmia (HP:0004308)1.40946852
106Oligomenorrhea (HP:0000876)1.39605264
107Easy fatigability (HP:0003388)1.38407168
108Diaphragmatic weakness (HP:0009113)1.34866678
109Breech presentation (HP:0001623)1.34519183
110Short palpebral fissure (HP:0012745)1.32359865
111* Ulnar deviation of the hand or of fingers of the hand (HP:0001193)1.28747258
112Aplasia of the musculature (HP:0100854)1.27699851
113Increased intramyocellular lipid droplets (HP:0012240)1.26580243
114Cholelithiasis (HP:0001081)1.26083459

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TTN5.64168926
2PIK3CG4.68408720
3PHKG24.13370637
4PHKG14.13370637
5NME13.52070837
6MAP2K32.48182753
7NEK12.27977220
8MUSK2.09444736
9OBSCN10.9891653
10DMPK1.95494728
11TRIB31.91752657
12MAP3K71.88662791
13PDK41.83913437
14PDK31.83913437
15PINK11.83653922
16MAPK121.45674396
17MAP2K41.33073166
18PIK3CA1.25282418
19PDK21.20576922
20MAP2K61.08209088
21BCKDK1.08176835
22MARK11.01008395
23MAP3K30.97004459
24MAPKAPK30.90430215
25MAP3K130.80750606
26SIK10.79481661
27AKT20.73891522
28PKN20.73803876
29ZAK0.73745972
30LIMK10.63961316
31NEK90.63081774
32PRKAA10.61971199
33EPHB10.60553371
34CAMK2G0.59448177
35RIPK10.58418452
36PRKAA20.57843308
37TAOK20.57520294
38MAPK110.57286086
39ERBB30.57261808
40CAMK40.56304389
41TRPM70.56236760
42ILK0.47890882
43TAOK10.47174404
44MAP3K110.43611570
45STK240.41090932
46SGK20.40397422
47CAMK10.39479973
48PTK60.38218620
49ROCK10.37587235
50CAMK2B0.37426170
51LATS10.36643697
52MARK30.34133035
53RPS6KB10.32684177
54MOS0.31189189
55PRKG10.30929988
56ARAF0.30835364
57SGK10.29636168
58MAP2K10.27061051
59MAPK130.26734891
60MAP3K100.26730168
61MAP3K60.26334207
62EEF2K0.26124084
63MARK20.25552604
64PRKACB0.25333770
65MAP3K50.25322641
66TBK10.24075042
67PKN10.23714235
68SGK4940.23135543
69SGK2230.23135543
70RPS6KA30.21470801
71INSRR0.20400465
72DDR20.19324016
73MAPK40.18305394
74PDPK10.18299642
75TIE10.17641582
76CDK190.17394157
77LATS20.17389991
78PRKACA0.16922993
79ROCK20.16787459
80KSR20.16702456
81MAPK70.16575653
82PRPF4B0.16241407
83MAP3K10.15687551
84FER0.15222326
85DYRK1B0.14964439
86MAP3K90.14894387
87PDGFRA0.13796910
88EPHA30.13598258
89PDK10.13582449
90PRKD10.12833339
91FGFR40.12681045
92NLK0.12348456
93RAF10.12115377
94PAK60.11599801
95DAPK20.11577830
96STK110.11372711
97FGFR10.10942959
98CCNB10.08821021
99SGK30.08588929
100TGFBR20.08545959
101RPS6KC10.08285599
102RPS6KL10.08285599
103MTOR0.08224347
104LRRK20.08213407
105MST1R0.07604214
106CAMK2D0.06965463
107ICK0.06923171
108PRKG20.06440035
109BRAF0.06409505
110ERN10.06239151
111BMX0.05738212
112RPS6KA60.04998230
113ZAP700.04454013
114RPS6KB20.03728316
115GSK3A0.03704795
116RPS6KA10.03430499
117CSNK1D0.03421762
118STK380.03328190
119FGFR30.03302753
120CAMK1G0.02965985
121MAPK100.02611938
122GSK3B0.02448090
123CAMK2A0.02442847
124MAPK80.02132428
125RPS6KA20.02037786
126PTK2B0.01977166
127RET0.01797707
128PRKCH0.01691472
129MAPK90.01275826
130PRKACG0.00132043
131KSR1-0.0117534

Predicted pathways (KEGG)

RankGene SetZ-score
1Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054104.35542037
2Citrate cycle (TCA cycle)_Homo sapiens_hsa000204.30269446
3Cardiac muscle contraction_Homo sapiens_hsa042603.94420616
4Dilated cardiomyopathy_Homo sapiens_hsa054143.76489629
5Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054123.73635278
62-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.23682986
7Starch and sucrose metabolism_Homo sapiens_hsa005002.55046045
8Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.25095037
9Oxytocin signaling pathway_Homo sapiens_hsa049212.12278035
10Glucagon signaling pathway_Homo sapiens_hsa049222.07309330
11Propanoate metabolism_Homo sapiens_hsa006402.07307605
12Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042612.02099357
13Insulin signaling pathway_Homo sapiens_hsa049102.01914803
14Carbon metabolism_Homo sapiens_hsa012002.01103539
15Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.92455449
16Insulin resistance_Homo sapiens_hsa049311.84264299
17Tight junction_Homo sapiens_hsa045301.74630977
18Circadian rhythm_Homo sapiens_hsa047101.68701113
19Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.60721883
20Parkinsons disease_Homo sapiens_hsa050121.59735354
21Calcium signaling pathway_Homo sapiens_hsa040201.53968918
22Alzheimers disease_Homo sapiens_hsa050101.52028713
23Adipocytokine signaling pathway_Homo sapiens_hsa049201.48641090
24AMPK signaling pathway_Homo sapiens_hsa041521.47043516
25Viral myocarditis_Homo sapiens_hsa054161.44717826
26Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.42294762
27Oxidative phosphorylation_Homo sapiens_hsa001901.37051970
28Fatty acid degradation_Homo sapiens_hsa000711.36435065
29Biosynthesis of amino acids_Homo sapiens_hsa012301.32856806
30cGMP-PKG signaling pathway_Homo sapiens_hsa040221.29637795
31Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.29264183
32Nitrogen metabolism_Homo sapiens_hsa009101.28607463
33Galactose metabolism_Homo sapiens_hsa000521.28230142
34Focal adhesion_Homo sapiens_hsa045101.25893412
35Pyruvate metabolism_Homo sapiens_hsa006201.24430534
36Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.22731624
37Vascular smooth muscle contraction_Homo sapiens_hsa042701.21344889
38Gastric acid secretion_Homo sapiens_hsa049711.17226621
39Fructose and mannose metabolism_Homo sapiens_hsa000511.13303088
40Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.04550834
41Fatty acid metabolism_Homo sapiens_hsa012121.01637667
42GnRH signaling pathway_Homo sapiens_hsa049120.98508871
43Central carbon metabolism in cancer_Homo sapiens_hsa052300.92709839
44Arginine and proline metabolism_Homo sapiens_hsa003300.88623796
45Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.87246037
46Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.83374090
47Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.81955503
48FoxO signaling pathway_Homo sapiens_hsa040680.81513599
49HIF-1 signaling pathway_Homo sapiens_hsa040660.78097057
50Insulin secretion_Homo sapiens_hsa049110.76921010
51Renin secretion_Homo sapiens_hsa049240.74430813
52Longevity regulating pathway - mammal_Homo sapiens_hsa042110.74351505
53mTOR signaling pathway_Homo sapiens_hsa041500.73070713
54Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.69364365
55MAPK signaling pathway_Homo sapiens_hsa040100.69325002
56Pentose phosphate pathway_Homo sapiens_hsa000300.67602914
57Fatty acid biosynthesis_Homo sapiens_hsa000610.66915732
58VEGF signaling pathway_Homo sapiens_hsa043700.66438194
59Proteoglycans in cancer_Homo sapiens_hsa052050.64242339
60Salivary secretion_Homo sapiens_hsa049700.61519165
61Huntingtons disease_Homo sapiens_hsa050160.60785490
62Arginine biosynthesis_Homo sapiens_hsa002200.60377221
63Long-term depression_Homo sapiens_hsa047300.59420977
64Carbohydrate digestion and absorption_Homo sapiens_hsa049730.57581771
65Amoebiasis_Homo sapiens_hsa051460.56365409
66Platelet activation_Homo sapiens_hsa046110.52824406
67Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.51942803
68Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.51728198
69Leukocyte transendothelial migration_Homo sapiens_hsa046700.51500316
70ECM-receptor interaction_Homo sapiens_hsa045120.50747859
71Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.50700920
72PPAR signaling pathway_Homo sapiens_hsa033200.47599568
73Regulation of actin cytoskeleton_Homo sapiens_hsa048100.47006135
74Type II diabetes mellitus_Homo sapiens_hsa049300.46056408
75Adherens junction_Homo sapiens_hsa045200.45885714
76Phenylalanine metabolism_Homo sapiens_hsa003600.42901676
77Protein digestion and absorption_Homo sapiens_hsa049740.42718517
78Aldosterone synthesis and secretion_Homo sapiens_hsa049250.39825903
79Bile secretion_Homo sapiens_hsa049760.39409972
80beta-Alanine metabolism_Homo sapiens_hsa004100.38768663
81Regulation of autophagy_Homo sapiens_hsa041400.35040998
82Pancreatic secretion_Homo sapiens_hsa049720.34938149
83Renal cell carcinoma_Homo sapiens_hsa052110.33149303
84Butanoate metabolism_Homo sapiens_hsa006500.32745187
85Lysine degradation_Homo sapiens_hsa003100.32592603
86Circadian entrainment_Homo sapiens_hsa047130.31267591
87Amphetamine addiction_Homo sapiens_hsa050310.28912634
88Tryptophan metabolism_Homo sapiens_hsa003800.27680752
89Peroxisome_Homo sapiens_hsa041460.27406732
90Cholinergic synapse_Homo sapiens_hsa047250.26836490
91Melanogenesis_Homo sapiens_hsa049160.25322959
92Fatty acid elongation_Homo sapiens_hsa000620.25292480
93Phototransduction_Homo sapiens_hsa047440.23855273
94Histidine metabolism_Homo sapiens_hsa003400.23026164
95Long-term potentiation_Homo sapiens_hsa047200.22589597
96AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.20689494
97Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.20454484
98Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.20334134
99Thyroid hormone signaling pathway_Homo sapiens_hsa049190.18186995
100Thyroid cancer_Homo sapiens_hsa052160.16676192
101Purine metabolism_Homo sapiens_hsa002300.16591617
102cAMP signaling pathway_Homo sapiens_hsa040240.16450968
103Fat digestion and absorption_Homo sapiens_hsa049750.15630351
104Olfactory transduction_Homo sapiens_hsa047400.15205701
105Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.15095369
106Glioma_Homo sapiens_hsa052140.15044255
107Basal cell carcinoma_Homo sapiens_hsa052170.14941402
108Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.13572773
109Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.13165683
110Tyrosine metabolism_Homo sapiens_hsa003500.12759346
111alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.12020527
112Neurotrophin signaling pathway_Homo sapiens_hsa047220.11149015
113Oocyte meiosis_Homo sapiens_hsa041140.10762831
114Gap junction_Homo sapiens_hsa045400.09158966
115GABAergic synapse_Homo sapiens_hsa047270.07893461

Most similar genes based on co-expression Upload to Enrichr

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