TCAP

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: Sarcomere assembly is regulated by the muscle protein titin. Titin is a giant elastic protein with kinase activity that extends half the length of a sarcomere. It serves as a scaffold to which myofibrils and other muscle related proteins are attached. This gene encodes a protein found in striated and cardiac muscle that binds to the titin Z1-Z2 domains and is a substrate of titin kinase, interactions thought to be critical to sarcomere assembly. Mutations in this gene are associated with limb-girdle muscular dystrophy type 2G. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* muscle filament sliding (GO:0030049)8.92331451
2* actin-myosin filament sliding (GO:0033275)8.92331451
3* sarcomere organization (GO:0045214)8.54903294
4regulation of skeletal muscle contraction (GO:0014819)8.30393028
5sarcoplasmic reticulum calcium ion transport (GO:0070296)7.37987672
6negative regulation of potassium ion transmembrane transporter activity (GO:1901017)7.32743349
7plasma membrane repair (GO:0001778)7.29705304
8* actin-mediated cell contraction (GO:0070252)7.29007081
9positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)7.28992245
10* myofibril assembly (GO:0030239)6.95449643
11regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)6.63101551
12negative regulation of potassium ion transmembrane transport (GO:1901380)6.47436636
13* cardiac myofibril assembly (GO:0055003)6.46183718
14tricarboxylic acid cycle (GO:0006099)6.32213255
15regulation of relaxation of muscle (GO:1901077)6.17260567
16* cardiac muscle contraction (GO:0060048)5.88167337
17* striated muscle contraction (GO:0006941)5.85931798
18regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)5.81728693
19carnitine shuttle (GO:0006853)5.75645672
20regulation of actin filament-based movement (GO:1903115)5.64395578
21regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.64095973
22regulation of cell communication by electrical coupling (GO:0010649)5.57772789
23regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO5.55773749
24* skeletal muscle contraction (GO:0003009)5.53015164
25* actomyosin structure organization (GO:0031032)5.47576997
26* actin filament-based movement (GO:0030048)5.42601517
27regulation of acyl-CoA biosynthetic process (GO:0050812)5.30311972
28regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)5.25750903
29creatine metabolic process (GO:0006600)5.25636968
30skeletal muscle fiber development (GO:0048741)5.25607301
31skeletal muscle adaptation (GO:0043501)5.22611152
32response to stimulus involved in regulation of muscle adaptation (GO:0014874)5.22219480
33* cardiac muscle cell development (GO:0055013)5.10132706
34fatty acid transmembrane transport (GO:1902001)4.95618789
35regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)4.89406298
36regulation of sarcomere organization (GO:0060297)4.87402843
37regulation of cofactor metabolic process (GO:0051193)4.81567432
38regulation of coenzyme metabolic process (GO:0051196)4.81567432
39myotube cell development (GO:0014904)4.78662393
40* cardiac cell development (GO:0055006)4.77231131
41ventricular cardiac muscle cell action potential (GO:0086005)4.77205633
42heart process (GO:0003015)4.74378344
43heart contraction (GO:0060047)4.74378344
44regulation of striated muscle contraction (GO:0006942)4.73029721
45* cardiac muscle tissue morphogenesis (GO:0055008)4.53738887
46heart trabecula formation (GO:0060347)4.50207211
47bundle of His cell to Purkinje myocyte communication (GO:0086069)4.44625289
48* muscle contraction (GO:0006936)4.33039182
49ventricular cardiac muscle tissue morphogenesis (GO:0055010)4.30741867
50regulation of membrane repolarization (GO:0060306)4.29476072
51carnitine transmembrane transport (GO:1902603)4.27502837
52response to inactivity (GO:0014854)4.21492252
53* muscle tissue morphogenesis (GO:0060415)4.21471915
54skeletal muscle tissue development (GO:0007519)4.16135017
55NADH metabolic process (GO:0006734)4.07929294
56mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.05904188
57mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.04819452
582-oxoglutarate metabolic process (GO:0006103)4.04273470
59glycogen catabolic process (GO:0005980)4.03809892
60positive regulation of calcium ion transmembrane transporter activity (GO:1901021)4.00458471
61* muscle system process (GO:0003012)4.00147611
62pyrimidine ribonucleoside catabolic process (GO:0046133)3.99224483
63response to muscle activity (GO:0014850)3.99122849
64* muscle fiber development (GO:0048747)3.93555836
65regulation of sulfur metabolic process (GO:0042762)3.92221784
66regulation of sequestering of triglyceride (GO:0010889)3.90137996
67amino-acid betaine transport (GO:0015838)3.89347536
68carnitine transport (GO:0015879)3.89347536
69* cardiac muscle hypertrophy (GO:0003300)3.87186695
70respiratory electron transport chain (GO:0022904)3.87135103
71muscle cell cellular homeostasis (GO:0046716)3.81567616
72* striated muscle hypertrophy (GO:0014897)3.81015076
73oxidative phosphorylation (GO:0006119)3.80826029
74striated muscle atrophy (GO:0014891)3.79799722
75cytidine metabolic process (GO:0046087)3.79217504
76cytidine catabolic process (GO:0006216)3.79217504
77cytidine deamination (GO:0009972)3.79217504
78glucan catabolic process (GO:0009251)3.76667362
79negative regulation of calcium ion transmembrane transport (GO:1903170)3.75485505
80negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.75485505
81electron transport chain (GO:0022900)3.75076295
82energy coupled proton transport, down electrochemical gradient (GO:0015985)3.74796899
83ATP synthesis coupled proton transport (GO:0015986)3.74796899
84regulation of the force of heart contraction (GO:0002026)3.73203889
85* adult heart development (GO:0007512)3.72345262
86regulation of calcium ion transmembrane transport (GO:1903169)3.70493743
87regulation of calcium ion transmembrane transporter activity (GO:1901019)3.70493743
88regulation of ATP catabolic process (GO:1903289)3.64436322
89regulation of ATPase activity (GO:0043462)3.64436322
90skeletal muscle tissue regeneration (GO:0043403)3.63131228
91negative regulation of protein localization to cell surface (GO:2000009)3.61857896
92cell communication involved in cardiac conduction (GO:0086065)3.60404910
93negative regulation of potassium ion transport (GO:0043267)3.58142030
94* striated muscle cell development (GO:0055002)3.56690267
95regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.55893781
96membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.55214949
97regulation of muscle contraction (GO:0006937)3.55009713
98negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.54111887
99muscle structure development (GO:0061061)3.53627091
100muscle organ development (GO:0007517)3.53016617
101cardiac muscle cell action potential involved in contraction (GO:0086002)3.52569380
102positive regulation of cation channel activity (GO:2001259)3.52551510
103regulation of muscle system process (GO:0090257)3.52147267
104glycogen metabolic process (GO:0005977)3.51730733
105muscle cell fate commitment (GO:0042693)3.51562899
106cellular polysaccharide catabolic process (GO:0044247)3.50026493
107cardiac muscle cell action potential (GO:0086001)3.49436686
108positive regulation of myotube differentiation (GO:0010831)3.49402923
109negative regulation of muscle hypertrophy (GO:0014741)3.48189844
110gluconeogenesis (GO:0006094)3.45572210
111glucan biosynthetic process (GO:0009250)3.44937418
112glycogen biosynthetic process (GO:0005978)3.44937418
113cellular glucan metabolic process (GO:0006073)3.44719744
114glucan metabolic process (GO:0044042)3.44719744
115* striated muscle adaptation (GO:0014888)3.44470995
116regulation of cardiac muscle contraction (GO:0055117)3.42141339
117regulation of heart rate (GO:0002027)3.39730087
118regulation of myoblast differentiation (GO:0045661)3.36739708
119regulation of cardiac muscle cell contraction (GO:0086004)3.36011150
120cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.35687937
121polysaccharide catabolic process (GO:0000272)3.33777222
122relaxation of muscle (GO:0090075)3.32285209
123* muscle hypertrophy (GO:0014896)3.32256963
124response to activity (GO:0014823)3.27059573
125negative regulation of necroptotic process (GO:0060546)3.25321497
126relaxation of cardiac muscle (GO:0055119)3.24490436
127oxaloacetate metabolic process (GO:0006107)3.24025078
128regulation of heart contraction (GO:0008016)3.15417711

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1PPARG_19300518_ChIP-PET_3T3-L1_Mouse6.66136175
2ESRRB_18555785_ChIP-Seq_MESCs_Mouse4.23452543
3TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse4.08791718
4BP1_19119308_ChIP-ChIP_Hs578T_Human4.01436941
5EP300_21415370_ChIP-Seq_HL-1_Mouse3.85883032
6* TBX20_22328084_ChIP-Seq_HEART_Mouse3.75036717
7* TBX20_22080862_ChIP-Seq_HEART_Mouse3.75036717
8ESR1_20079471_ChIP-ChIP_T-47D_Human3.30330481
9ZNF263_19887448_ChIP-Seq_K562_Human3.22811905
10RARG_19884340_ChIP-ChIP_MEFs_Mouse2.86137321
11RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.72515727
12MEF2A_21415370_ChIP-Seq_HL-1_Mouse2.68117297
13CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.50529459
14THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.26717732
15PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.13701494
16EZH2_22144423_ChIP-Seq_EOC_Human2.07897746
17CDX2_19796622_ChIP-Seq_MESCs_Mouse2.04775940
18GATA4_21415370_ChIP-Seq_HL-1_Mouse2.04635996
19ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.99710904
20GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.87423702
21ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.83329449
22NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.79418599
23ESR2_21235772_ChIP-Seq_MCF-7_Human1.75214934
24TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.61308622
25NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.59042702
26EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.58636360
27BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.55755532
28NFIB_24661679_ChIP-Seq_LUNG_Mouse1.51790727
29CTCF_27219007_Chip-Seq_Bcells_Human1.51212085
30PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.51056852
31CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.48785928
32PPARA_22158963_ChIP-Seq_LIVER_Mouse1.41627898
33* CLOCK_20551151_ChIP-Seq_293T_Human1.41456106
34TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.36184271
35* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.33255829
36KDM2B_26808549_Chip-Seq_SUP-B15_Human1.31134247
37EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.30059796
38NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.29481058
39KDM2B_26808549_Chip-Seq_DND41_Human1.26457740
40PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.24919730
41DROSHA_22980978_ChIP-Seq_HELA_Human1.21770252
42LXR_22158963_ChIP-Seq_LIVER_Mouse1.21133365
43FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.20371331
44LXR_22292898_ChIP-Seq_THP-1_Human1.19400817
45TP63_22573176_ChIP-Seq_HFKS_Human1.18174451
46EZH2_27294783_Chip-Seq_ESCs_Mouse1.18129668
47TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.17045823
48* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.15884448
49STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.14274758
50RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.14056527
51CTCF_21964334_ChIP-Seq_BJAB-B_Human1.13451654
52ESR1_21235772_ChIP-Seq_MCF-7_Human1.12891821
53ZNF274_21170338_ChIP-Seq_K562_Hela1.12090201
54P68_20966046_ChIP-Seq_HELA_Human1.11580354
55* RARB_27405468_Chip-Seq_BRAIN_Mouse1.10876499
56RACK7_27058665_Chip-Seq_MCF-7_Human1.10875445
57RXR_22158963_ChIP-Seq_LIVER_Mouse1.07957435
58FOXH1_21741376_ChIP-Seq_ESCs_Human1.06386272
59OCT4_20526341_ChIP-Seq_ESCs_Human1.06055744
60PPAR_26484153_Chip-Seq_NCI-H1993_Human1.05325020
61STAT3_1855785_ChIP-Seq_MESCs_Mouse1.04309293
62ATF3_27146783_Chip-Seq_COLON_Human1.03345111
63SMC3_22415368_ChIP-Seq_MEFs_Mouse1.03258475
64GATA1_22025678_ChIP-Seq_K562_Human1.02392422
65ELK3_25401928_ChIP-Seq_HUVEC_Human1.00818871
66DNAJC2_21179169_ChIP-ChIP_NT2_Human1.00015256
67P63_26484246_Chip-Seq_KERATINOCYTES_Human0.99907433
68SPI1_20517297_ChIP-Seq_HL60_Human0.99181829
69GATA1_19941826_ChIP-Seq_K562_Human0.98785650
70SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.98747250
71YY1_22570637_ChIP-Seq_MALME-3M_Human0.98656375
72AR_21572438_ChIP-Seq_LNCaP_Human0.97542156
73CTCF_21964334_Chip-Seq_Bcells_Human0.95426697
74RUNX1_27514584_Chip-Seq_MCF-7_Human0.95422275
75ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.95407763
76UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.94377089
77E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.94274628
78* MYC_27129775_Chip-Seq_CORNEA_Mouse0.93531427
79ZFP281_18757296_ChIP-ChIP_E14_Mouse0.93438962
80SA1_27219007_Chip-Seq_Bcells_Human0.91386294
81MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.90999252
82SMC1_22415368_ChIP-Seq_MEFs_Mouse0.90018834
83NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.89826658
84* KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.89797390
85EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.88945694
86LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.88674706
87BCOR_27268052_Chip-Seq_Bcells_Human0.88206295
88MTF2_20144788_ChIP-Seq_MESCs_Mouse0.86917175
89CBX2_27304074_Chip-Seq_ESCs_Mouse0.86097437
90* BCL6_27268052_Chip-Seq_Bcells_Human0.85639185
91SOX9_24532713_ChIP-Seq_HFSC_Mouse0.85156889
92AUTS2_25519132_ChIP-Seq_293T-REX_Human0.85151132
93GATA2_21666600_ChIP-Seq_HMVEC_Human0.84744085
94E2F1_20622854_ChIP-Seq_HELA_Human0.84501834
95ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.84432163
96PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.83199454
97TRIM28_21343339_ChIP-Seq_HEK293_Human0.83087766
98GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.83013502
99TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.82940321
100CREB1_26743006_Chip-Seq_LNCaP_Human0.82649072
101GATA2_19941826_ChIP-Seq_K562_Human0.82408673
102GATA1_19941827_ChIP-Seq_MEL_Mouse0.81134693
103CJUN_26792858_Chip-Seq_BT549_Human0.80639213
104TDRD3_21172665_ChIP-Seq_MCF-7_Human0.80150140
105SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.78189857
106* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.78133912
107NR3C1_23031785_ChIP-Seq_PC12_Mouse0.77860067
108RAD21_21589869_ChIP-Seq_MESCs_Mouse0.77750278
109GATA1_19941827_ChIP-Seq_MEL86_Mouse0.77241984
110SUZ12_27294783_Chip-Seq_NPCs_Mouse0.76575590
111HIF1A_21447827_ChIP-Seq_MCF-7_Human0.76566498
112SMC4_20622854_ChIP-Seq_HELA_Human0.76253808
113RBPJ_22232070_ChIP-Seq_NCS_Mouse0.75929626
114PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.75478283
115SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.75376226
116SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.74852878
117NANOG_20526341_ChIP-Seq_ESCs_Human0.74344658
118FOXA2_19822575_ChIP-Seq_HepG2_Human0.74205751
119ISL1_27105846_Chip-Seq_CPCs_Mouse0.73407795
120JARID2_20075857_ChIP-Seq_MESCs_Mouse0.73392828
121CTCF_27219007_Chip-Seq_ERYTHROID_Human0.73217486
122CRX_20693478_ChIP-Seq_RETINA_Mouse0.72932011
123LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.72618177
124KDM2B_26808549_Chip-Seq_K562_Human0.72568007
125TP53_23651856_ChIP-Seq_MEFs_Mouse0.72512488
126TCF7_22412390_ChIP-Seq_EML_Mouse0.71424468
127SOX2_21211035_ChIP-Seq_LN229_Gbm0.71201128
128RNF2_18974828_ChIP-Seq_MESCs_Mouse0.70816969
129EZH2_18974828_ChIP-Seq_MESCs_Mouse0.70816969
130SMAD3_21741376_ChIP-Seq_HESCs_Human0.70329210
131EZH2_27304074_Chip-Seq_ESCs_Mouse0.69848148
132GF1_26923725_Chip-Seq_HPCs_Mouse0.68831933
133ERG_21242973_ChIP-ChIP_JURKAT_Human0.68071000
134DPY_21335234_ChIP-Seq_ESCs_Mouse0.68015040
135EZH2_27294783_Chip-Seq_NPCs_Mouse0.67480129

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003646_muscle_fatigue6.54729595
2MP0002837_dystrophic_cardiac_calcinosis6.45121781
3* MP0000751_myopathy5.02826131
4MP0000749_muscle_degeneration4.92153047
5MP0004084_abnormal_cardiac_muscle4.69615064
6MP0004036_abnormal_muscle_relaxation4.39726814
7MP0004145_abnormal_muscle_electrophysio4.10803450
8MP0004215_abnormal_myocardial_fiber3.95082520
9MP0005330_cardiomyopathy3.49450943
10* MP0004087_abnormal_muscle_fiber3.29400274
11* MP0002106_abnormal_muscle_physiology3.11324200
12MP0000750_abnormal_muscle_regeneration3.10021812
13MP0004130_abnormal_muscle_cell2.98427433
14MP0005620_abnormal_muscle_contractility2.96098291
15MP0000747_muscle_weakness2.92021350
16MP0002972_abnormal_cardiac_muscle2.70935054
17* MP0000759_abnormal_skeletal_muscle2.63813453
18* MP0002269_muscular_atrophy2.61950297
19* MP0005369_muscle_phenotype2.55501773
20MP0008775_abnormal_heart_ventricle2.35405919
21MP0003137_abnormal_impulse_conducting2.33008586
22MP0004484_altered_response_of2.29564875
23MP0010630_abnormal_cardiac_muscle2.28269456
24MP0005385_cardiovascular_system_phenoty2.24707471
25MP0001544_abnormal_cardiovascular_syste2.24707471
26MP0004233_abnormal_muscle_weight2.07185551
27MP0006036_abnormal_mitochondrial_physio1.96975119
28MP0006138_congestive_heart_failure1.92252286
29MP0003221_abnormal_cardiomyocyte_apopto1.83790119
30MP0002332_abnormal_exercise_endurance1.81465146
31MP0003828_pulmonary_edema1.69428081
32MP0005666_abnormal_adipose_tissue1.64055946
33MP0004085_abnormal_heartbeat1.63890642
34MP0004185_abnormal_adipocyte_glucose1.44945979
35MP0004510_myositis1.39870061
36MP0003950_abnormal_plasma_membrane1.39362313
37MP0002127_abnormal_cardiovascular_syste1.34049841
38MP0002108_abnormal_muscle_morphology1.28239038
39MP0000733_abnormal_muscle_development1.16350438
40MP0002234_abnormal_pharynx_morphology1.16293421
41MP0005670_abnormal_white_adipose1.14528111
42MP0005375_adipose_tissue_phenotype1.12843688
43MP0000343_altered_response_to1.12053061
44MP0006035_abnormal_mitochondrial_morpho1.05656010
45MP0000266_abnormal_heart_morphology0.99182068
46MP0005266_abnormal_metabolism0.97922139
47MP0001661_extended_life_span0.95904458
48MP0003567_abnormal_fetal_cardiomyocyte0.92881512
49MP0003806_abnormal_nucleotide_metabolis0.89948265
50MP0002971_abnormal_brown_adipose0.87177924
51MP0005165_increased_susceptibility_to0.85349748
52MP0003705_abnormal_hypodermis_morpholog0.83267446
53MP0005275_abnormal_skin_tensile0.75642756
54MP0000230_abnormal_systemic_arterial0.70731561
55MP0004043_abnormal_pH_regulation0.70167586
56MP0003279_aneurysm0.70121917
57MP0010368_abnormal_lymphatic_system0.69386432
58MP0000013_abnormal_adipose_tissue0.69090626
59MP0004147_increased_porphyrin_level0.64384031
60MP0002128_abnormal_blood_circulation0.63514000
61MP0000003_abnormal_adipose_tissue0.62097136
62MP0008961_abnormal_basal_metabolism0.57589559
63MP0002078_abnormal_glucose_homeostasis0.56218783
64MP0001879_abnormal_lymphatic_vessel0.51726522
65MP0002909_abnormal_adrenal_gland0.51662977
66MP0003566_abnormal_cell_adhesion0.49776096
67MP0005451_abnormal_body_composition0.48892726
68MP0005319_abnormal_enzyme/_coenzyme0.48276443
69MP0000372_irregular_coat_pigmentation0.43910923
70MP0005187_abnormal_penis_morphology0.43776826
71MP0005623_abnormal_meninges_morphology0.43380145
72MP0005334_abnormal_fat_pad0.41836866
73MP0000767_abnormal_smooth_muscle0.41609258
74MP0002638_abnormal_pupillary_reflex0.41440836
75MP0008438_abnormal_cutaneous_collagen0.38269670
76MP0003879_abnormal_hair_cell0.37779073
77MP0003656_abnormal_erythrocyte_physiolo0.37727476
78MP0005535_abnormal_body_temperature0.37442442
79MP0005423_abnormal_somatic_nervous0.36258138
80MP0005083_abnormal_biliary_tract0.36165825
81MP0004134_abnormal_chest_morphology0.34683342
82MP0002925_abnormal_cardiovascular_devel0.32251770
83MP0003011_delayed_dark_adaptation0.31569745
84MP0003948_abnormal_gas_homeostasis0.31054918
85MP0005584_abnormal_enzyme/coenzyme_acti0.30711366
86MP0000579_abnormal_nail_morphology0.29615594
87MP0002118_abnormal_lipid_homeostasis0.28711469
88MP0002822_catalepsy0.28678364
89MP0005166_decreased_susceptibility_to0.27940687
90MP0000762_abnormal_tongue_morphology0.27716119
91MP0003195_calcinosis0.26896347
92MP0009115_abnormal_fat_cell0.26820297
93MP0008569_lethality_at_weaning0.26757980
94MP0009840_abnormal_foam_cell0.26560845
95MP0003045_fibrosis0.26489790
96MP0001853_heart_inflammation0.26393094
97MP0005452_abnormal_adipose_tissue0.26217952
98MP0001614_abnormal_blood_vessel0.25463879
99MP0001784_abnormal_fluid_regulation0.25398034
100MP0005332_abnormal_amino_acid0.24375668
101MP0009672_abnormal_birth_weight0.23813056
102MP0001299_abnormal_eye_distance/0.23261507
103MP0004142_abnormal_muscle_tone0.22726471
104MP0002896_abnormal_bone_mineralization0.22168237
105MP0010030_abnormal_orbit_morphology0.22158006
106MP0005376_homeostasis/metabolism_phenot0.21411182
107MP0002114_abnormal_axial_skeleton0.20845906
108MP0001727_abnormal_embryo_implantation0.19407525
109MP0005167_abnormal_blood-brain_barrier0.18887520
110MP0004924_abnormal_behavior0.18651016
111MP0005386_behavior/neurological_phenoty0.18651016
112MP0008874_decreased_physiological_sensi0.18511378
113MP0000249_abnormal_blood_vessel0.17856041
114MP0004270_analgesia0.17802678
115MP0002970_abnormal_white_adipose0.17267865
116MP0004272_abnormal_basement_membrane0.17201499
117MP0009250_abnormal_appendicular_skeleto0.16774892
118MP0009780_abnormal_chondrocyte_physiolo0.16516428
119MP0001943_abnormal_respiration0.16174035

Predicted human phenotypes

RankGene SetZ-score
1Exercise-induced myalgia (HP:0003738)7.91062506
2Exercise-induced muscle cramps (HP:0003710)7.51750081
3Sudden death (HP:0001699)6.53592794
4Muscle fiber inclusion bodies (HP:0100299)6.28370736
5Muscle fiber splitting (HP:0003555)6.26926249
6* Muscle hypertrophy of the lower extremities (HP:0008968)6.06074916
7Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)5.99772660
8* Calf muscle hypertrophy (HP:0008981)5.90127927
9Myoglobinuria (HP:0002913)5.76274421
10Hyporeflexia of lower limbs (HP:0002600)5.60542343
11Ventricular tachycardia (HP:0004756)5.59300767
12Nemaline bodies (HP:0003798)5.33639567
13Type 1 muscle fiber predominance (HP:0003803)5.02425784
14EMG: myopathic abnormalities (HP:0003458)4.90783372
15Abnormality of the left ventricular outflow tract (HP:0011103)4.83446715
16Subaortic stenosis (HP:0001682)4.83446715
17* Abnormality of the calf musculature (HP:0001430)4.80759965
18Rhabdomyolysis (HP:0003201)4.56552412
19Atrial fibrillation (HP:0005110)4.48327350
20Myotonia (HP:0002486)4.24704610
21Primary atrial arrhythmia (HP:0001692)4.18962422
22* Lipoatrophy (HP:0100578)4.06805438
23Supraventricular tachycardia (HP:0004755)4.04795993
24Asymmetric septal hypertrophy (HP:0001670)4.03235649
25Supraventricular arrhythmia (HP:0005115)3.95902640
26Distal arthrogryposis (HP:0005684)3.93373780
27Right ventricular cardiomyopathy (HP:0011663)3.93013033
28Muscle stiffness (HP:0003552)3.85990278
29Bundle branch block (HP:0011710)3.76055512
30Myopathic facies (HP:0002058)3.75837211
31* Difficulty running (HP:0009046)3.68183644
32Palpitations (HP:0001962)3.59910127
33* Dilated cardiomyopathy (HP:0001644)3.52435171
34Round ear (HP:0100830)3.51980973
35Syncope (HP:0001279)3.36389915
36* Increased connective tissue (HP:0009025)3.29197209
37Prolonged QT interval (HP:0001657)3.24428878
38Neck muscle weakness (HP:0000467)3.21596684
39* Rimmed vacuoles (HP:0003805)3.16358779
40Heart block (HP:0012722)3.13875654
41Ventricular arrhythmia (HP:0004308)3.11741733
42Ulnar deviation of the wrist (HP:0003049)3.04114442
43Abnormal atrioventricular conduction (HP:0005150)2.97089017
44* Distal lower limb muscle weakness (HP:0009053)2.95162274
45Atrioventricular block (HP:0001678)2.84694326
46Limb-girdle muscle atrophy (HP:0003797)2.68476443
47Ventricular fibrillation (HP:0001663)2.65820123
48Ragged-red muscle fibers (HP:0003200)2.64377388
49Abnormal mitochondria in muscle tissue (HP:0008316)2.57368699
50* Abnormality of skeletal muscle fiber size (HP:0012084)2.53036122
51Acute necrotizing encephalopathy (HP:0006965)2.52147966
52Hepatic necrosis (HP:0002605)2.51657471
53* Difficulty climbing stairs (HP:0003551)2.48106621
54Calcaneovalgus deformity (HP:0001848)2.45941156
55Weak cry (HP:0001612)2.45373660
56Frequent falls (HP:0002359)2.41280500
57Left ventricular hypertrophy (HP:0001712)2.41013726
58EMG: neuropathic changes (HP:0003445)2.39087503
59Ketoacidosis (HP:0001993)2.39071813
60Absent phalangeal crease (HP:0006109)2.36508193
61Facial diplegia (HP:0001349)2.36199265
62Abnormal EKG (HP:0003115)2.34900590
63* Increased variability in muscle fiber diameter (HP:0003557)2.31842764
64Mildly elevated creatine phosphokinase (HP:0008180)2.29709642
65Hypoplastic ischia (HP:0003175)2.29702944
66Slender build (HP:0001533)2.29155208
67Testicular atrophy (HP:0000029)2.27502560
68Increased muscle lipid content (HP:0009058)2.24013867
69* Areflexia of lower limbs (HP:0002522)2.22891810
70Generalized muscle weakness (HP:0003324)2.22049309
71Gowers sign (HP:0003391)2.21743361
72Deformed tarsal bones (HP:0008119)2.20619575
73Hepatocellular necrosis (HP:0001404)2.20298534
74Acute encephalopathy (HP:0006846)2.19316234
75Exercise intolerance (HP:0003546)2.16429710
76Hip contracture (HP:0003273)2.16254988
77Conjunctival hamartoma (HP:0100780)2.14434139
78Waddling gait (HP:0002515)2.11760539
79Fetal akinesia sequence (HP:0001989)2.11600173
80Scapular winging (HP:0003691)2.10261281
81Abnormality of the shoulder girdle musculature (HP:0001435)2.10184442
82Progressive muscle weakness (HP:0003323)2.09277387
83* Palmoplantar keratoderma (HP:0000982)2.08968815
84Progressive macrocephaly (HP:0004481)2.08376408
85Limb-girdle muscle weakness (HP:0003325)2.07624541
86* Abnormality of the foot musculature (HP:0001436)2.06313040
87Hypoglycemic coma (HP:0001325)2.06043033
88Mitochondrial inheritance (HP:0001427)2.02911792
89Abnormality of the calcaneus (HP:0008364)2.00368253
90Abnormality of the ischium (HP:0003174)1.99910979
91Abnormality of fatty-acid metabolism (HP:0004359)1.98324871
92Cerebral edema (HP:0002181)1.97652429
93Dicarboxylic aciduria (HP:0003215)1.96602150
94Abnormality of dicarboxylic acid metabolism (HP:0010995)1.96602150
95Increased intramyocellular lipid droplets (HP:0012240)1.96223305
96* Muscular dystrophy (HP:0003560)1.93865763
97Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.93812480
98Respiratory insufficiency due to muscle weakness (HP:0002747)1.91983424
99Increased CSF lactate (HP:0002490)1.91471056
100Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.90461296
101Abnormality of alanine metabolism (HP:0010916)1.90461296
102Hyperalaninemia (HP:0003348)1.90461296
103Malignant hyperthermia (HP:0002047)1.90198791
104Abnormal finger flexion creases (HP:0006143)1.89541932
105Centrally nucleated skeletal muscle fibers (HP:0003687)1.86172015
106Spinal rigidity (HP:0003306)1.84731997
107Hyperkalemia (HP:0002153)1.84635608
108Abnormality of the neuromuscular junction (HP:0003398)1.84338342
109Fatigable weakness (HP:0003473)1.84338342
110Cholelithiasis (HP:0001081)1.84049171
111Bulbar palsy (HP:0001283)1.82264174
112Ketosis (HP:0001946)1.81704648
113* Foot dorsiflexor weakness (HP:0009027)1.73688432
114Steppage gait (HP:0003376)1.64189867
115Abnormality of the musculature of the pelvis (HP:0001469)1.60292426
116Abnormality of the hip-girdle musculature (HP:0001445)1.60292426
117Shoulder girdle muscle weakness (HP:0003547)1.51845824
118Pelvic girdle muscle weakness (HP:0003749)1.51797274
119* Proximal amyotrophy (HP:0007126)1.50094672
120Nonprogressive disorder (HP:0003680)1.47397845
121Limited hip movement (HP:0008800)1.44989788
122Paralysis (HP:0003470)1.44104757
123Long clavicles (HP:0000890)1.43567178
124Metatarsus adductus (HP:0001840)1.39496234
125Oligomenorrhea (HP:0000876)1.36859345
126Type 2 muscle fiber atrophy (HP:0003554)1.34902868

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN6.88258216
2PHKG25.37429644
3PHKG15.37429644
4PDK33.48284797
5PDK43.48284797
6DMPK2.93442636
7LMTK22.91556345
8TRIB32.74838882
9BCKDK2.69438940
10NEK12.67292300
11PINK12.59769321
12MYLK2.58437208
13PKN22.38622348
14PIK3CA2.33895167
15MUSK2.29251671
16PDK22.19359967
17NME12.05297827
18MAP2K31.96532299
19PIK3CG1.83707040
20MAP3K71.66737169
21TIE11.66323262
22STK241.47551661
23MAPK121.43849271
24MARK11.29919916
25LIMK11.14585711
26MAPKAPK31.10574133
27GRK71.07926564
28PAK31.02662702
29CAMK2D1.00287521
30PRKAA10.97855748
31PRKAA20.97332730
32ILK0.94184750
33MAP3K30.92742282
34RIPK10.88283264
35TRPM70.86748477
36MOS0.84072189
37MAP2K40.80349309
38ROCK10.80221661
39ZAK0.78199547
40MAP3K50.77940844
41PKN10.76619412
42CCNB10.75776783
43MAP2K60.73939230
44DYRK1B0.73708449
45* PRKD10.72544701
46EPHB10.69517457
47NEK90.67520093
48INSRR0.65455526
49ERBB30.62444007
50MAP3K60.58936575
51FLT30.58480084
52MAP2K10.58224930
53STK40.58171900
54CAMK2B0.57074534
55CDC42BPA0.56910752
56CAMK40.56581888
57TGFBR20.56130661
58PDGFRA0.54914557
59STK38L0.53268593
60CAMK2G0.52347638
61MAP3K130.52011674
62WNK40.51838769
63KSR20.50876084
64PRKACB0.50345241
65AKT20.49328712
66ROCK20.47274895
67TAOK10.45434150
68STK380.44493147
69DAPK30.42419054
70RPS6KC10.41057523
71RPS6KL10.41057523
72PRKACA0.39290590
73MAPK110.39074804
74PTK60.38795395
75PDPK10.38579660
76MAP3K110.37483899
77WNK10.37480604
78EPHA30.37467162
79PRPF4B0.36370043
80SIK10.36249717
81ICK0.36016094
82TBK10.35118250
83KDR0.34148793
84SGK20.34122189
85RPS6KA60.34118740
86CAMK10.34081231
87PRKACG0.33345916
88PTK2B0.33203107
89PDK10.30609112
90TAOK20.29585372
91* CAMK2A0.29443772
92SGK10.28677106
93MAPK100.28091420
94NME20.27741974
95MAP3K10.26547678
96RPS6KA10.25886278
97ZAP700.25776189
98MARK20.25232988
99PRKCH0.24883870
100PRKG10.24784456
101FER0.21657730
102SGK30.21515442
103PRKCE0.21399770
104MAPK70.19327618
105LATS20.19184925
106LATS10.19078848
107RPS6KB10.18475249
108RPS6KB20.18291662
109* RPS6KA30.17108536
110MARK30.16616350
111MTOR0.16206832
112PAK60.16136525
113SGK4940.16044417
114SGK2230.16044417
115ARAF0.15692421
116LRRK20.15536369
117RET0.15208185
118JAK10.14011441
119STK110.13977834
120NLK0.13782467
121EPHB20.13655732
122EEF2K0.13638447
123FGFR40.13183009
124RPS6KA20.12848932
125MAPK40.12550764
126PRKD30.12032614
127DAPK20.11559200
128MAPK90.08854609

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000205.75121815
22-Oxocarboxylic acid metabolism_Homo sapiens_hsa012104.29066835
3Cardiac muscle contraction_Homo sapiens_hsa042604.14845953
4Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054103.73279678
5Dilated cardiomyopathy_Homo sapiens_hsa054143.62845901
6Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.32077669
7Propanoate metabolism_Homo sapiens_hsa006403.22757917
8Parkinsons disease_Homo sapiens_hsa050122.98946520
9Oxidative phosphorylation_Homo sapiens_hsa001902.87727015
10Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.69782954
11Fatty acid degradation_Homo sapiens_hsa000712.69370095
12Carbon metabolism_Homo sapiens_hsa012002.49947191
13Alzheimers disease_Homo sapiens_hsa050102.31169643
14Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.23921778
15Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.12443944
16Fatty acid metabolism_Homo sapiens_hsa012122.02928771
17Pyruvate metabolism_Homo sapiens_hsa006201.78874361
18Huntingtons disease_Homo sapiens_hsa050161.75360229
19Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.69090548
20Viral myocarditis_Homo sapiens_hsa054161.66913969
21Starch and sucrose metabolism_Homo sapiens_hsa005001.49748239
22Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.47009619
23Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.42325652
24Glucagon signaling pathway_Homo sapiens_hsa049221.31326707
25Insulin resistance_Homo sapiens_hsa049311.30001761
26Butanoate metabolism_Homo sapiens_hsa006501.25598253
27Biosynthesis of amino acids_Homo sapiens_hsa012301.22924946
28Insulin signaling pathway_Homo sapiens_hsa049101.20920874
29Adipocytokine signaling pathway_Homo sapiens_hsa049201.18235908
30Fatty acid elongation_Homo sapiens_hsa000621.12954317
31Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.03071384
32PPAR signaling pathway_Homo sapiens_hsa033201.00931425
33cGMP-PKG signaling pathway_Homo sapiens_hsa040220.99908303
34Oxytocin signaling pathway_Homo sapiens_hsa049210.97558887
35Calcium signaling pathway_Homo sapiens_hsa040200.96255131
36AMPK signaling pathway_Homo sapiens_hsa041520.91936172
37Arginine and proline metabolism_Homo sapiens_hsa003300.85393713
38Galactose metabolism_Homo sapiens_hsa000520.84295429
39Arginine biosynthesis_Homo sapiens_hsa002200.83514887
40Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.82462997
41beta-Alanine metabolism_Homo sapiens_hsa004100.75798649
42Circadian rhythm_Homo sapiens_hsa047100.73900909
43Focal adhesion_Homo sapiens_hsa045100.71097256
44Fructose and mannose metabolism_Homo sapiens_hsa000510.70204968
45Vascular smooth muscle contraction_Homo sapiens_hsa042700.70026743
46Tryptophan metabolism_Homo sapiens_hsa003800.69226728
47HIF-1 signaling pathway_Homo sapiens_hsa040660.67839646
48Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.66454832
49Tight junction_Homo sapiens_hsa045300.64257720
50Long-term potentiation_Homo sapiens_hsa047200.62438625
51Lysine degradation_Homo sapiens_hsa003100.57683766
52Nitrogen metabolism_Homo sapiens_hsa009100.57646536
53Fatty acid biosynthesis_Homo sapiens_hsa000610.57504195
54Type II diabetes mellitus_Homo sapiens_hsa049300.57468848
55Central carbon metabolism in cancer_Homo sapiens_hsa052300.56760650
56Phenylalanine metabolism_Homo sapiens_hsa003600.56695787
57Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.54466167
58Gastric acid secretion_Homo sapiens_hsa049710.52533701
59Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.50073710
60Renin secretion_Homo sapiens_hsa049240.48755196
61Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.47471038
62Peroxisome_Homo sapiens_hsa041460.47204647
63Longevity regulating pathway - mammal_Homo sapiens_hsa042110.46203118
64Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.40741189
65Thyroid hormone signaling pathway_Homo sapiens_hsa049190.36277869
66Insulin secretion_Homo sapiens_hsa049110.34064073
67Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.32700157
68GnRH signaling pathway_Homo sapiens_hsa049120.32260243
69Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.31048629
70cAMP signaling pathway_Homo sapiens_hsa040240.29167921
71VEGF signaling pathway_Homo sapiens_hsa043700.28743187
72ECM-receptor interaction_Homo sapiens_hsa045120.28502941
73Fat digestion and absorption_Homo sapiens_hsa049750.27828704
74Amoebiasis_Homo sapiens_hsa051460.27405942
75Adherens junction_Homo sapiens_hsa045200.25889794
76Regulation of autophagy_Homo sapiens_hsa041400.25611911
77Amphetamine addiction_Homo sapiens_hsa050310.24195790
78Metabolic pathways_Homo sapiens_hsa011000.23237390
79Pentose phosphate pathway_Homo sapiens_hsa000300.23218612
80Aldosterone synthesis and secretion_Homo sapiens_hsa049250.22992027
81Platelet activation_Homo sapiens_hsa046110.22199688
82mTOR signaling pathway_Homo sapiens_hsa041500.21849787
83Regulation of actin cytoskeleton_Homo sapiens_hsa048100.21808204
84Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.21530983
85Renal cell carcinoma_Homo sapiens_hsa052110.20860142
86FoxO signaling pathway_Homo sapiens_hsa040680.20857930
87Sulfur relay system_Homo sapiens_hsa041220.20647375
88Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.19241984
89Leukocyte transendothelial migration_Homo sapiens_hsa046700.19141327
90Tyrosine metabolism_Homo sapiens_hsa003500.18569817
91Melanogenesis_Homo sapiens_hsa049160.18256344
92Cysteine and methionine metabolism_Homo sapiens_hsa002700.17776544
93Circadian entrainment_Homo sapiens_hsa047130.16976830
94Histidine metabolism_Homo sapiens_hsa003400.15641204
95Proteoglycans in cancer_Homo sapiens_hsa052050.15134560
96Phototransduction_Homo sapiens_hsa047440.14455995
97Long-term depression_Homo sapiens_hsa047300.13724313
98MAPK signaling pathway_Homo sapiens_hsa040100.13344459
99Pancreatic secretion_Homo sapiens_hsa049720.10519497
100Glycerophospholipid metabolism_Homo sapiens_hsa005640.09780760
101Glycerolipid metabolism_Homo sapiens_hsa005610.09093698
102Dorso-ventral axis formation_Homo sapiens_hsa043200.08734832
103Cholinergic synapse_Homo sapiens_hsa047250.07660600
104Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.06471756
105Gap junction_Homo sapiens_hsa045400.05763987
106Glioma_Homo sapiens_hsa052140.05600213
107AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.05392174
108Bile secretion_Homo sapiens_hsa049760.03417301
109Salivary secretion_Homo sapiens_hsa049700.03344202
110Ovarian steroidogenesis_Homo sapiens_hsa049130.02673558
111Toxoplasmosis_Homo sapiens_hsa051450.00668187
112Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961-0.0240438
113Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962-0.0080412
114Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964-0.0069124
115alpha-Linolenic acid metabolism_Homo sapiens_hsa00592-0.0046982

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