TNNT1

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





Description: This gene encodes a protein that is a subunit of troponin, which is a regulatory complex located on the thin filament of the sarcomere. This complex regulates striated muscle contraction in response to fluctuations in intracellular calcium concentration. This complex is composed of three subunits: troponin C, which binds calcium, troponin T, which binds tropomyosin, and troponin I, which is an inhibitory subunit. This protein is the slow skeletal troponin T subunit. Mutations in this gene cause nemaline myopathy type 5, also known as Amish nemaline myopathy, a neuromuscular disorder characterized by muscle weakness and rod-shaped, or nemaline, inclusions in skeletal muscle fibers which affects infants, resulting in death due to respiratory insufficiency, usually in the second year. Multiple transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* actin filament-based movement (GO:0030048)8.79615242
2skeletal muscle fiber development (GO:0048741)8.15658618
3negative regulation of potassium ion transmembrane transporter activity (GO:1901017)7.96951345
4sarcomere organization (GO:0045214)7.51319508
5myotube cell development (GO:0014904)7.04590038
6* striated muscle contraction (GO:0006941)6.84158575
7myofibril assembly (GO:0030239)6.75624219
8negative regulation of potassium ion transmembrane transport (GO:1901380)6.43919611
9skeletal muscle adaptation (GO:0043501)6.26189703
10response to stimulus involved in regulation of muscle adaptation (GO:0014874)5.99583608
11* muscle contraction (GO:0006936)5.98338268
12skeletal muscle tissue regeneration (GO:0043403)5.84951373
13positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)5.73328098
14cardiac myofibril assembly (GO:0055003)5.53664795
15response to inactivity (GO:0014854)5.53523278
16cytidine metabolic process (GO:0046087)5.46207373
17cytidine catabolic process (GO:0006216)5.46207373
18cytidine deamination (GO:0009972)5.46207373
19muscle fiber development (GO:0048747)5.42166130
20actomyosin structure organization (GO:0031032)5.40483000
21pyrimidine ribonucleoside catabolic process (GO:0046133)5.37272935
22regulation of cell communication by electrical coupling (GO:0010649)5.31841149
23* muscle system process (GO:0003012)5.29529458
24NADH metabolic process (GO:0006734)5.28516453
25regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)5.12303580
26muscle cell fate commitment (GO:0042693)4.99321854
27regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)4.98397346
28regulation of relaxation of muscle (GO:1901077)4.95143766
29regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)4.91309323
30cardiac muscle contraction (GO:0060048)4.85693050
31cellular polysaccharide catabolic process (GO:0044247)4.84450119
32regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)4.71231164
33skeletal muscle tissue development (GO:0007519)4.70069533
34muscle cell cellular homeostasis (GO:0046716)4.62750017
35striated muscle cell development (GO:0055002)4.61928380
36response to muscle activity (GO:0014850)4.54162860
37striated muscle adaptation (GO:0014888)4.51434089
38positive regulation of myotube differentiation (GO:0010831)4.47704016
39regulation of sarcomere organization (GO:0060297)4.47191731
40muscle organ development (GO:0007517)4.45032558
41regulation of acyl-CoA biosynthetic process (GO:0050812)4.43703491
42muscle structure development (GO:0061061)4.38569573
43creatine metabolic process (GO:0006600)4.38338152
44polysaccharide catabolic process (GO:0000272)4.35430081
45cardiac muscle cell development (GO:0055013)4.34508799
46regulation of myoblast differentiation (GO:0045661)4.31869001
472-oxoglutarate metabolic process (GO:0006103)4.31029980
48negative regulation of protein localization to cell surface (GO:2000009)4.27824291
49muscle organ morphogenesis (GO:0048644)4.18776464
50regulation of coenzyme metabolic process (GO:0051196)4.17183887
51regulation of cofactor metabolic process (GO:0051193)4.17183887
52tricarboxylic acid cycle (GO:0006099)4.16859120
53carnitine shuttle (GO:0006853)4.12190558
54fructose metabolic process (GO:0006000)4.08922956
55gluconeogenesis (GO:0006094)4.08528674
56regulation of skeletal muscle cell differentiation (GO:2001014)4.08489750
57striated muscle atrophy (GO:0014891)4.06048835
58cardiac cell development (GO:0055006)4.05510690
59glycogen metabolic process (GO:0005977)4.04647375
60myoblast fusion (GO:0007520)4.03384721
61muscle cell development (GO:0055001)3.98619433
62glycogen biosynthetic process (GO:0005978)3.96708651
63glucan biosynthetic process (GO:0009250)3.96708651
64cellular glucan metabolic process (GO:0006073)3.95958119
65glucan metabolic process (GO:0044042)3.95958119
66heart process (GO:0003015)3.94960729
67heart contraction (GO:0060047)3.94960729
68regulation of striated muscle contraction (GO:0006942)3.88957239
69regulation of membrane repolarization (GO:0060306)3.85789614
70myotube differentiation (GO:0014902)3.70053257
71muscle adaptation (GO:0043500)3.68939852
72striated muscle hypertrophy (GO:0014897)3.68016956
73muscle tissue morphogenesis (GO:0060415)3.67832606
74hexose biosynthetic process (GO:0019319)3.66595236
75regulation of myotube differentiation (GO:0010830)3.63988750
76skeletal muscle cell differentiation (GO:0035914)3.63809109
77cardiac muscle hypertrophy (GO:0003300)3.62813650
78adult heart development (GO:0007512)3.61431678
79syncytium formation by plasma membrane fusion (GO:0000768)3.61322569
80positive regulation of myoblast differentiation (GO:0045663)3.58970848
81regulation of skeletal muscle fiber development (GO:0048742)3.58338491
82positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.49679035
83muscle atrophy (GO:0014889)3.49408467
84syncytium formation (GO:0006949)3.49248124
85IMP metabolic process (GO:0046040)3.48833974
86negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.46962538
87negative regulation of calcium ion transmembrane transport (GO:1903170)3.46962538
88fatty acid transmembrane transport (GO:1902001)3.45796059
89regulation of the force of heart contraction (GO:0002026)3.44975293
90negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.41241472
91glycogen catabolic process (GO:0005980)3.41176930
92cardiac muscle tissue morphogenesis (GO:0055008)3.41124176
93purine nucleotide salvage (GO:0032261)3.36760763
94regulation of calcium ion transmembrane transport (GO:1903169)3.35691938
95regulation of calcium ion transmembrane transporter activity (GO:1901019)3.35691938
96cardiac muscle adaptation (GO:0014887)3.31702859
97cardiac muscle hypertrophy in response to stress (GO:0014898)3.31702859
98muscle hypertrophy in response to stress (GO:0003299)3.31702859
99regulation of potassium ion transmembrane transporter activity (GO:1901016)3.28536053
100response to activity (GO:0014823)3.27554536
101negative regulation of potassium ion transport (GO:0043267)3.26989423
102striated muscle tissue development (GO:0014706)3.26667027
103negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)3.26531519
104muscle hypertrophy (GO:0014896)3.26479163
105negative regulation of muscle hypertrophy (GO:0014741)3.26333768
106positive regulation of mitochondrial calcium ion concentration (GO:0051561)3.22781311
107AMP metabolic process (GO:0046033)3.22270286
108regulation of sulfur metabolic process (GO:0042762)3.22238571
109regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.22230363
110oxaloacetate metabolic process (GO:0006107)3.20724891
111negative regulation of necroptotic process (GO:0060546)3.19997197
112regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.19329692
113otic vesicle formation (GO:0030916)3.18932598
114regulation of actin filament-based movement (GO:1903115)3.18540369
115glucan catabolic process (GO:0009251)3.16767404
116ubiquinone biosynthetic process (GO:0006744)3.11800888
117quinone biosynthetic process (GO:1901663)3.11800888
118* muscle filament sliding (GO:0030049)14.5280662
119* actin-myosin filament sliding (GO:0033275)14.5280662
120plasma membrane repair (GO:0001778)11.9257453
121* actin-mediated cell contraction (GO:0070252)11.8600446
122regulation of skeletal muscle contraction (GO:0014819)10.5493176
123sarcoplasmic reticulum calcium ion transport (GO:0070296)10.1463917
124* skeletal muscle contraction (GO:0003009)10.1048569

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human7.39835774
2PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.58365056
3ESR1_20079471_ChIP-ChIP_T-47D_Human4.45110835
4EZH2_22144423_ChIP-Seq_EOC_Human3.98987279
5TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.98013464
6RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.81901904
7TBX20_22328084_ChIP-Seq_HEART_Mouse3.80720275
8TBX20_22080862_ChIP-Seq_HEART_Mouse3.80720275
9TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.69983038
10ESRRB_18555785_ChIP-Seq_MESCs_Mouse3.66199242
11MEF2A_21415370_ChIP-Seq_HL-1_Mouse3.45447757
12RARG_19884340_ChIP-ChIP_MEFs_Mouse3.35809047
13EP300_21415370_ChIP-Seq_HL-1_Mouse2.76532413
14BCL3_23251550_ChIP-Seq_MUSCLE_Mouse2.51921652
15ZNF263_19887448_ChIP-Seq_K562_Human2.46577432
16CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.32481499
17TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse2.21327183
18GATA4_21415370_ChIP-Seq_HL-1_Mouse2.18507657
19ESR1_21235772_ChIP-Seq_MCF-7_Human2.09796672
20RBPJ_22232070_ChIP-Seq_NCS_Mouse1.94168822
21NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.93740501
22TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.91962874
23CLOCK_20551151_ChIP-Seq_293T_Human1.91498141
24THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.88662466
25PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.88075809
26ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.87852786
27ZFP281_18757296_ChIP-ChIP_E14_Mouse1.84050492
28ZNF274_21170338_ChIP-Seq_K562_Hela1.83292999
29ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.81361917
30EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.77971726
31RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.74224511
32CDX2_19796622_ChIP-Seq_MESCs_Mouse1.72349081
33CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.68515601
34CTCF_21964334_ChIP-Seq_BJAB-B_Human1.67751057
35STAT6_21828071_ChIP-Seq_BEAS2B_Human1.63264712
36ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.62866914
37CTCF_27219007_Chip-Seq_Bcells_Human1.62022934
38* PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.61181027
39THAP11_20581084_ChIP-Seq_MESCs_Mouse1.57458970
40* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.56584657
41TRIM28_21343339_ChIP-Seq_HEK293_Human1.55629422
42* CTCF_21964334_Chip-Seq_Bcells_Human1.53598409
43HIF1A_21447827_ChIP-Seq_MCF-7_Human1.50857607
44ESR2_21235772_ChIP-Seq_MCF-7_Human1.50544332
45NFIB_24661679_ChIP-Seq_LUNG_Mouse1.45391893
46E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.44114395
47UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.36033653
48SA1_27219007_Chip-Seq_Bcells_Human1.35305958
49GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.31756577
50DNAJC2_21179169_ChIP-ChIP_NT2_Human1.26623513
51SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.24919946
52FOXH1_21741376_ChIP-Seq_ESCs_Human1.23930607
53BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.23610001
54* STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.23408592
55STAT3_1855785_ChIP-Seq_MESCs_Mouse1.22036659
56TP53_20018659_ChIP-ChIP_R1E_Mouse1.21618964
57NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.21031297
58KDM2B_26808549_Chip-Seq_DND41_Human1.21013021
59NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.21012490
60ERG_21242973_ChIP-ChIP_JURKAT_Human1.17707548
61NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.16019180
62CTCF_26484167_Chip-Seq_Bcells_Mouse1.15747929
63* RACK7_27058665_Chip-Seq_MCF-7_Human1.15197236
64RARB_27405468_Chip-Seq_BRAIN_Mouse1.14782970
65EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.14057303
66TDRD3_21172665_ChIP-Seq_MCF-7_Human1.12358200
67* SMC3_22415368_ChIP-Seq_MEFs_Mouse1.12295983
68MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.11867828
69PPARA_22158963_ChIP-Seq_LIVER_Mouse1.11492207
70ATF3_27146783_Chip-Seq_COLON_Human1.11486588
71LXR_22292898_ChIP-Seq_THP-1_Human1.09812186
72* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.08600050
73OCT4_20526341_ChIP-Seq_ESCs_Human1.08393119
74EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.08389510
75CTCF_27219007_Chip-Seq_ERYTHROID_Human1.08371648
76SPI1_20517297_ChIP-Seq_HL60_Human1.06556156
77GATA6_21074721_ChIP-Seq_CACO-2_Mouse1.05704010
78WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.05167524
79SRF_21415370_ChIP-Seq_HL-1_Mouse1.04405895
80MYC_27129775_Chip-Seq_CORNEA_Mouse1.03566786
81STAT1_20625510_ChIP-Seq_HELA_Human1.03151168
82CJUN_26792858_Chip-Seq_BT549_Human1.02748619
83RAC3_21632823_ChIP-Seq_H3396_Human1.00691894
84ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.00662543
85KDM2B_26808549_Chip-Seq_SUP-B15_Human0.99354322
86SMC1_22415368_ChIP-Seq_MEFs_Mouse0.99298665
87TCF7_22412390_ChIP-Seq_EML_Mouse0.98938448
88CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.98719300
89PPAR_26484153_Chip-Seq_NCI-H1993_Human0.98461507
90YY1_22570637_ChIP-Seq_MALME-3M_Human0.98275582
91HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.97529069
92RXR_22158963_ChIP-Seq_LIVER_Mouse0.97279676
93PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.95867088
94* KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.95369411
95TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.95221339
96PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.94540002
97P68_20966046_ChIP-Seq_HELA_Human0.94048881
98P300_27058665_Chip-Seq_ZR-75-30cells_Human0.93222344
99TET1_21451524_ChIP-Seq_MESCs_Mouse0.92904361
100P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.92020750
101CSB_26484114_Chip-Seq_FIBROBLAST_Human0.91318416
102* ELK3_25401928_ChIP-Seq_HUVEC_Human0.91140958
103* SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.91060477
104IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.90583593
105CBP_20019798_ChIP-Seq_JUKART_Human0.90583593
106E2F1_20622854_ChIP-Seq_HELA_Human0.89949442
107EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.89204950
108TP63_22573176_ChIP-Seq_HFKS_Human0.87796151
109EGR1_19032775_ChIP-ChIP_M12_Human0.84912632
110ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.84828421
111* KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.84827957
112GATA1_19941827_ChIP-Seq_MEL_Mouse0.84649157
113* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.84209025
114BCL6_27268052_Chip-Seq_Bcells_Human0.83566272
115RAD21_21589869_ChIP-Seq_MESCs_Mouse0.83177829
116* SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.82863374
117P63_26484246_Chip-Seq_KERATINOCYTES_Human0.82486658
118CIITA_25753668_ChIP-Seq_RAJI_Human0.82070923
119NANOG_16153702_ChIP-ChIP_HESCs_Human0.82051785
120TBX5_21415370_ChIP-Seq_HL-1_Mouse0.81611823
121WT1_19549856_ChIP-ChIP_CCG9911_Human0.80779739
122PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.78875558
123EZH2_27294783_Chip-Seq_ESCs_Mouse0.78491018
124SA1_27219007_Chip-Seq_ERYTHROID_Human0.77400551
125NFI_21473784_ChIP-Seq_ESCs_Mouse0.76489709
126* KLF5_20875108_ChIP-Seq_MESCs_Mouse0.76230461
127CREB1_26743006_Chip-Seq_LNCaP_Human0.76154352
128MAF_26560356_Chip-Seq_TH1_Human0.75972744
129* TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.75964353
130AR_21572438_ChIP-Seq_LNCaP_Human0.75856001
131LUZP1_20508642_ChIP-Seq_ESCs_Mouse0.75533411
132TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.74874895
133* GATA3_21867929_ChIP-Seq_CD8_Mouse0.73972418
134SOX2_22085726_ChIP-Seq_NPCs_Mouse0.71985409
135GATA6_21074721_ChIP-Seq_CACO-2_Human0.71935902
136SMC4_20622854_ChIP-Seq_HELA_Human0.71578069
137SRY_22984422_ChIP-ChIP_TESTIS_Rat0.71538753
138DPY_21335234_ChIP-Seq_ESCs_Mouse0.70437710
139SOX11_22085726_ChIP-Seq_ESNs_Mouse0.70288136
140NANOG_20526341_ChIP-Seq_ESCs_Human0.70088397
141TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.69461785
142FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.69243585

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004145_abnormal_muscle_electrophysio6.56444212
2MP0000749_muscle_degeneration6.47467185
3MP0000751_myopathy6.27283087
4MP0003646_muscle_fatigue5.15826974
5MP0000747_muscle_weakness4.23198951
6MP0002837_dystrophic_cardiac_calcinosis4.07814450
7MP0002106_abnormal_muscle_physiology4.06709745
8MP0004036_abnormal_muscle_relaxation3.84986538
9MP0004087_abnormal_muscle_fiber3.78221490
10MP0000759_abnormal_skeletal_muscle3.64585842
11MP0000750_abnormal_muscle_regeneration3.61621363
12MP0005369_muscle_phenotype3.45429465
13MP0002269_muscular_atrophy3.27131266
14MP0004084_abnormal_cardiac_muscle3.23393389
15MP0000733_abnormal_muscle_development3.00638995
16MP0005620_abnormal_muscle_contractility2.99455069
17MP0005330_cardiomyopathy2.84963950
18MP0004233_abnormal_muscle_weight2.61022844
19MP0004215_abnormal_myocardial_fiber2.52634462
20MP0004130_abnormal_muscle_cell2.24755939
21MP0002108_abnormal_muscle_morphology2.14853876
22MP0002972_abnormal_cardiac_muscle2.05318223
23MP0003950_abnormal_plasma_membrane2.04201461
24MP0004484_altered_response_of1.96812857
25MP0010630_abnormal_cardiac_muscle1.84431912
26MP0000013_abnormal_adipose_tissue1.80750204
27MP0002332_abnormal_exercise_endurance1.69579781
28MP0006036_abnormal_mitochondrial_physio1.61567257
29MP0004270_analgesia1.49356485
30MP0005385_cardiovascular_system_phenoty1.44101397
31MP0001544_abnormal_cardiovascular_syste1.44101397
32MP0003137_abnormal_impulse_conducting1.44044882
33MP0003221_abnormal_cardiomyocyte_apopto1.33972308
34MP0002971_abnormal_brown_adipose1.32133928
35MP0003828_pulmonary_edema1.20617600
36MP0005666_abnormal_adipose_tissue1.17449087
37MP0006138_congestive_heart_failure1.15061832
38MP0008775_abnormal_heart_ventricle1.14681671
39MP0004185_abnormal_adipocyte_glucose1.13406702
40MP0001661_extended_life_span1.06851731
41MP0005375_adipose_tissue_phenotype1.04942578
42MP0002127_abnormal_cardiovascular_syste0.98211840
43MP0000003_abnormal_adipose_tissue0.92973551
44MP0002234_abnormal_pharynx_morphology0.91940549
45MP0003567_abnormal_fetal_cardiomyocyte0.88490242
46MP0005266_abnormal_metabolism0.86773404
47MP0002822_catalepsy0.82127102
48MP0000266_abnormal_heart_morphology0.80536484
49MP0004085_abnormal_heartbeat0.78357205
50MP0009250_abnormal_appendicular_skeleto0.77907193
51MP0004134_abnormal_chest_morphology0.76280789
52MP0005503_abnormal_tendon_morphology0.71795248
53MP0010030_abnormal_orbit_morphology0.70052721
54MP0004510_myositis0.69206811
55MP0001299_abnormal_eye_distance/0.68164677
56MP0009780_abnormal_chondrocyte_physiolo0.67085674
57MP0006035_abnormal_mitochondrial_morpho0.65953115
58MP0003806_abnormal_nucleotide_metabolis0.65765809
59MP0000762_abnormal_tongue_morphology0.60197575
60MP0002114_abnormal_axial_skeleton0.54619175
61MP0003385_abnormal_body_wall0.53731774
62MP0003879_abnormal_hair_cell0.51292884
63MP0000343_altered_response_to0.50774262
64MP0005670_abnormal_white_adipose0.50533095
65MP0003705_abnormal_hypodermis_morpholog0.48599762
66MP0005083_abnormal_biliary_tract0.47617619
67MP0008438_abnormal_cutaneous_collagen0.47538779
68MP0009672_abnormal_birth_weight0.47439967
69MP0005623_abnormal_meninges_morphology0.47253422
70MP0003045_fibrosis0.45249756
71MP0004197_abnormal_fetal_growth/weight/0.45157761
72MP0002128_abnormal_blood_circulation0.43295621
73MP0008961_abnormal_basal_metabolism0.42310579
74MP0003279_aneurysm0.42177372
75MP0005451_abnormal_body_composition0.41037449
76MP0004142_abnormal_muscle_tone0.39558457
77MP0003948_abnormal_gas_homeostasis0.38940347
78MP0000767_abnormal_smooth_muscle0.37687482
79MP0005376_homeostasis/metabolism_phenot0.37145430
80MP0002734_abnormal_mechanical_nocicepti0.34923806
81MP0003941_abnormal_skin_development0.34604458
82MP0005452_abnormal_adipose_tissue0.34198940
83MP0005584_abnormal_enzyme/coenzyme_acti0.33743294
84MP0004147_increased_porphyrin_level0.32667767
85MP0003566_abnormal_cell_adhesion0.31486101
86MP0002925_abnormal_cardiovascular_devel0.31177449
87MP0005319_abnormal_enzyme/_coenzyme0.30933718
88MP0001943_abnormal_respiration0.30788069
89MP0005275_abnormal_skin_tensile0.29641682
90MP0002078_abnormal_glucose_homeostasis0.29444764
91MP0004858_abnormal_nervous_system0.29350567
92MP0000372_irregular_coat_pigmentation0.29098876
93MP0005187_abnormal_penis_morphology0.27731099
94MP0005165_increased_susceptibility_to0.27201361
95MP0002932_abnormal_joint_morphology0.26762373
96MP0000428_abnormal_craniofacial_morphol0.26177986
97MP0002249_abnormal_larynx_morphology0.26107592
98MP0005332_abnormal_amino_acid0.25863021
99MP0008569_lethality_at_weaning0.25795711
100MP0001614_abnormal_blood_vessel0.24833181
101MP0005167_abnormal_blood-brain_barrier0.24441232
102MP0005334_abnormal_fat_pad0.23148023
103MP0003959_abnormal_lean_body0.23105135
104MP0003755_abnormal_palate_morphology0.23055254
105MP0005535_abnormal_body_temperature0.23047213
106MP0002896_abnormal_bone_mineralization0.22406555
107MP0005423_abnormal_somatic_nervous0.22330922
108MP0000230_abnormal_systemic_arterial0.21763116
109MP0001784_abnormal_fluid_regulation0.21598737
110MP0003656_abnormal_erythrocyte_physiolo0.20732119
111MP0008770_decreased_survivor_rate0.19645172
112MP0002638_abnormal_pupillary_reflex0.18485039
113MP0003011_delayed_dark_adaptation0.18471670
114MP0002066_abnormal_motor_capabilities/c0.17818899
115MP0010368_abnormal_lymphatic_system0.17535685
116MP0002081_perinatal_lethality0.16760717
117MP0000579_abnormal_nail_morphology0.16759632
118MP0001346_abnormal_lacrimal_gland0.15951333
119MP0004043_abnormal_pH_regulation0.15833272
120MP0004272_abnormal_basement_membrane0.15350073
121MP0005166_decreased_susceptibility_to0.15156626

Predicted human phenotypes

RankGene SetZ-score
1* Type 1 muscle fiber predominance (HP:0003803)8.42327917
2Distal arthrogryposis (HP:0005684)7.41265824
3Myopathic facies (HP:0002058)6.50093976
4Exercise-induced myalgia (HP:0003738)6.46143503
5Muscle hypertrophy of the lower extremities (HP:0008968)5.75851849
6Calf muscle hypertrophy (HP:0008981)5.61508728
7Exercise-induced muscle cramps (HP:0003710)5.59539908
8Round ear (HP:0100830)5.58784244
9Ulnar deviation of the wrist (HP:0003049)5.33999917
10Muscle fiber splitting (HP:0003555)5.07748399
11EMG: myopathic abnormalities (HP:0003458)4.91583114
12Hyporeflexia of lower limbs (HP:0002600)4.84622739
13Calcaneovalgus deformity (HP:0001848)4.66409774
14Abnormality of the calf musculature (HP:0001430)4.55142637
15Neck muscle weakness (HP:0000467)4.39687653
16Deformed tarsal bones (HP:0008119)4.36847165
17Difficulty running (HP:0009046)4.33127385
18Abnormality of skeletal muscle fiber size (HP:0012084)4.25904413
19Fetal akinesia sequence (HP:0001989)4.14949183
20Absent phalangeal crease (HP:0006109)4.13941710
21Malignant hyperthermia (HP:0002047)3.93927739
22Increased connective tissue (HP:0009025)3.66349940
23Frequent falls (HP:0002359)3.65886160
24Subaortic stenosis (HP:0001682)3.54976282
25Abnormality of the left ventricular outflow tract (HP:0011103)3.54976282
26Muscle stiffness (HP:0003552)3.54732577
27Myoglobinuria (HP:0002913)3.53480145
28Rimmed vacuoles (HP:0003805)3.47177512
29Increased variability in muscle fiber diameter (HP:0003557)3.45864923
30Abnormal finger flexion creases (HP:0006143)3.45132323
31Centrally nucleated skeletal muscle fibers (HP:0003687)3.42588999
32Weak cry (HP:0001612)3.37445224
33Sudden death (HP:0001699)3.30344593
34Mildly elevated creatine phosphokinase (HP:0008180)3.28074354
35Bulbar palsy (HP:0001283)3.25574945
36Abnormality of the neuromuscular junction (HP:0003398)3.23697577
37Fatigable weakness (HP:0003473)3.23697577
38Difficulty climbing stairs (HP:0003551)3.21072410
39Myotonia (HP:0002486)3.16634501
40Slender build (HP:0001533)3.11781012
41Areflexia of lower limbs (HP:0002522)3.07586147
42Generalized muscle weakness (HP:0003324)3.05175834
43Gowers sign (HP:0003391)3.01855242
44Rhabdomyolysis (HP:0003201)3.00107773
45Type 2 muscle fiber atrophy (HP:0003554)2.96570886
46Popliteal pterygium (HP:0009756)2.94400822
47EMG: neuropathic changes (HP:0003445)2.88970678
48Asymmetric septal hypertrophy (HP:0001670)2.85414706
49Abnormality of the calcaneus (HP:0008364)2.78876410
50Distal lower limb muscle weakness (HP:0009053)2.76010787
51Scapular winging (HP:0003691)2.73441243
52Facial diplegia (HP:0001349)2.73190819
53Muscle fiber atrophy (HP:0100295)2.71584838
54Spinal rigidity (HP:0003306)2.64249922
55Shoulder girdle muscle weakness (HP:0003547)2.62186102
56Pelvic girdle muscle weakness (HP:0003749)2.61076587
57Abnormality of the hip-girdle musculature (HP:0001445)2.52770105
58Abnormality of the musculature of the pelvis (HP:0001469)2.52770105
59Abnormality of placental membranes (HP:0011409)2.49432385
60Amniotic constriction ring (HP:0009775)2.49432385
61Aplasia of the musculature (HP:0100854)2.40954826
62Abnormality of the shoulder girdle musculature (HP:0001435)2.38059999
63Distal lower limb amyotrophy (HP:0008944)2.32517553
64Limb-girdle muscle atrophy (HP:0003797)2.29144477
65Respiratory insufficiency due to muscle weakness (HP:0002747)2.22788419
66Waddling gait (HP:0002515)2.19491469
67Easy fatigability (HP:0003388)2.11126438
68Ventricular tachycardia (HP:0004756)2.09514259
69Muscular dystrophy (HP:0003560)2.03416524
70Ulnar deviation of finger (HP:0009465)2.02877085
71Lipoatrophy (HP:0100578)2.00700613
72* Muscle fiber inclusion bodies (HP:0100299)11.6336115
73* Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)10.4137781
74* Nemaline bodies (HP:0003798)10.0175494
75Dilated cardiomyopathy (HP:0001644)1.99000654
76Ragged-red muscle fibers (HP:0003200)1.98533193
77Limb-girdle muscle weakness (HP:0003325)1.96427846
78Nonprogressive disorder (HP:0003680)1.92209233
79Metatarsus adductus (HP:0001840)1.91915163
80Exercise intolerance (HP:0003546)1.90825932
81* Hip contracture (HP:0003273)1.88540826
82Heart block (HP:0012722)1.86264416
83Abnormal atrioventricular conduction (HP:0005150)1.78223568
84Lower limb amyotrophy (HP:0007210)1.76159111
85Hypoplastic ischia (HP:0003175)1.72934733
86Increased intramyocellular lipid droplets (HP:0012240)1.69399981
87Long clavicles (HP:0000890)1.69118710
88Ulnar deviation of the hand or of fingers of the hand (HP:0001193)1.67701277
89Hyperkalemia (HP:0002153)1.66921757
90Trismus (HP:0000211)1.62606564
91Congenital hip dislocation (HP:0001374)1.60949549
92Achilles tendon contracture (HP:0001771)1.60820599
93Hypoplastic heart (HP:0001961)1.60572692
94Abnormality of the foot musculature (HP:0001436)1.60106389
95Symphalangism affecting the phalanges of the hand (HP:0009773)1.58714351
96Akinesia (HP:0002304)1.56901590
97Increased muscle lipid content (HP:0009058)1.54342278
98Ventricular arrhythmia (HP:0004308)1.53961899
99Thin ribs (HP:0000883)1.53291005
100Breech presentation (HP:0001623)1.52910002
101Adducted thumb (HP:0001181)1.51447321
102Bundle branch block (HP:0011710)1.50465645
103Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.50015974
104Tarsal synostosis (HP:0008368)1.49417635
105* Proximal amyotrophy (HP:0007126)1.47968175
106Foot dorsiflexor weakness (HP:0009027)1.47448541
107Paralysis (HP:0003470)1.46905530
108Short palpebral fissure (HP:0012745)1.33270053
109Generalized amyotrophy (HP:0003700)1.32652298
110Steppage gait (HP:0003376)1.29350220
111* Progressive muscle weakness (HP:0003323)1.25349980

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TTN4.80962892
2PIK3CG4.62394935
3MUSK2.85323967
4PHKG12.50789734
5PHKG22.50789734
6NME12.33272665
7MAP2K32.12663258
8NEK12.12171699
9TRIB32.02906381
10OBSCN12.9544407
11DMPK1.95666685
12MAP3K71.67267385
13PDK41.62590521
14PDK31.62590521
15PINK11.52385310
16PKN21.50495781
17MAPK121.31703983
18AKT21.01585809
19CCNB11.01375966
20PDK20.94905279
21ZAK0.92011716
22PIK3CA0.91577320
23ILK0.86700232
24BCKDK0.85209976
25MAP2K40.82866376
26LIMK10.82352779
27MAP3K30.80806505
28MAP2K60.77825178
29MARK10.77305157
30TAOK20.74545150
31STK240.73417317
32MOS0.71835501
33MAPK110.59687869
34TIE10.56003730
35MAPKAPK30.55938742
36MAP3K130.54340030
37ROCK10.53121873
38KSR20.52180132
39CAMK40.50494120
40CAMK2G0.46443652
41MAP3K100.45386018
42MAP3K110.45071661
43NEK90.44474230
44PRKAA10.44277215
45ARAF0.43926477
46RIPK10.42892557
47CAMK2B0.42218031
48TRPM70.41871239
49MAP3K50.41339215
50FLT30.36126321
51ERBB30.35192628
52PRKAA20.34525675
53STK38L0.33678958
54MYLK0.32110286
55CAMK10.30992294
56TAOK10.29998039
57SGK30.29556206
58BRAF0.29086365
59TLK10.28500951
60MAP2K10.28205900
61MAP3K10.27764494
62EPHB10.27368935
63DAPK30.27314008
64PRKG10.27227100
65PTK60.26819569
66ROCK20.24654577
67CDK190.24072664
68CDK80.23943570
69PKN10.23175447
70TBK10.21585434
71RPS6KB10.21377492
72CAMK2D0.21094779
73MAP3K90.20005026
74PRKACB0.19560414
75RPS6KA30.16977394
76PRPF4B0.16947355
77MAPK70.16634587
78RAF10.16018494
79PRKD10.15658088
80CDC42BPA0.15276367
81LATS20.14974212
82LRRK20.14948906
83MAPK40.14822227
84PDGFRA0.13801054
85NME20.13206260
86FGFR10.13166039
87SGK10.13143201
88INSRR0.12995672
89RPS6KL10.12798805
90RPS6KC10.12798805
91MARK20.12423755
92PAK40.12327011
93TGFBR20.11594070
94PRKACA0.11366003
95ICK0.09930849
96STK380.09560534
97CDK60.09473202
98PTK2B0.09303611
99PAK10.08388490
100DYRK1B0.08091311
101KSR10.08045562
102RPS6KA60.08027956
103MAP2K20.08001007
104SIK10.07516926
105MAPK100.07432579
106MTOR0.07372143
107CAMK2A0.07338058
108MAPK130.07220213
109EPHB20.07182309
110STK160.06931200
111PRKACG0.06808473
112MST1R0.05914182
113CSNK1D0.04833949
114GSK3B0.04512586
115SGK20.04144704
116EEF2K0.04134844
117PRKG20.03875763
118ABL20.03711094
119PDPK10.03707549
120PBK0.03225035
121MAPK80.01979203
122PDK10.01862637
123RPS6KB20.01601755
124MAPKAPK20.00615977
125PIM20.00563759
126PRKDC0.00171157
127LATS1-0.0280520
128CDK14-0.0273730
129MAP3K6-0.0237899
130BMX-0.0235682
131CDK4-0.0173974
132RPS6KA1-0.0123679
133MAPK9-0.0089838

Predicted pathways (KEGG)

RankGene SetZ-score
1Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054105.28651558
2Cardiac muscle contraction_Homo sapiens_hsa042605.10562764
3Citrate cycle (TCA cycle)_Homo sapiens_hsa000204.88851824
4Dilated cardiomyopathy_Homo sapiens_hsa054144.83032126
5Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054124.04620295
62-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.62914956
7Parkinsons disease_Homo sapiens_hsa050122.45639829
8Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.35047125
9Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042612.26290404
10Carbon metabolism_Homo sapiens_hsa012002.17229045
11Oxidative phosphorylation_Homo sapiens_hsa001902.12376190
12Starch and sucrose metabolism_Homo sapiens_hsa005002.04172186
13Propanoate metabolism_Homo sapiens_hsa006401.96678553
14Viral myocarditis_Homo sapiens_hsa054161.93936247
15Alzheimers disease_Homo sapiens_hsa050101.89877806
16Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.81211801
17Oxytocin signaling pathway_Homo sapiens_hsa049211.78631544
18Tight junction_Homo sapiens_hsa045301.74076531
19Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.62762437
20Insulin signaling pathway_Homo sapiens_hsa049101.60708432
21Glucagon signaling pathway_Homo sapiens_hsa049221.58646412
22Fatty acid degradation_Homo sapiens_hsa000711.52791044
23Biosynthesis of amino acids_Homo sapiens_hsa012301.41177824
24Insulin resistance_Homo sapiens_hsa049311.38353666
25Huntingtons disease_Homo sapiens_hsa050161.31147773
26Galactose metabolism_Homo sapiens_hsa000521.24782049
27Pyruvate metabolism_Homo sapiens_hsa006201.24678637
28Calcium signaling pathway_Homo sapiens_hsa040201.15394016
29Focal adhesion_Homo sapiens_hsa045101.15062886
30cGMP-PKG signaling pathway_Homo sapiens_hsa040221.08341871
31Circadian rhythm_Homo sapiens_hsa047101.06498971
32AMPK signaling pathway_Homo sapiens_hsa041521.05620121
33HIF-1 signaling pathway_Homo sapiens_hsa040661.05586563
34Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.04791854
35Vascular smooth muscle contraction_Homo sapiens_hsa042701.02469575
36Nitrogen metabolism_Homo sapiens_hsa009100.97848937
37Fructose and mannose metabolism_Homo sapiens_hsa000510.97354873
38Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.97196751
39Adipocytokine signaling pathway_Homo sapiens_hsa049200.97070251
40Central carbon metabolism in cancer_Homo sapiens_hsa052300.94665354
41Fatty acid metabolism_Homo sapiens_hsa012120.92349208
42Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.91200012
43Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.85754175
44Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.76813290
45Fatty acid elongation_Homo sapiens_hsa000620.70219659
46Proteoglycans in cancer_Homo sapiens_hsa052050.68804541
47FoxO signaling pathway_Homo sapiens_hsa040680.65018457
48Arginine and proline metabolism_Homo sapiens_hsa003300.62407074
49MAPK signaling pathway_Homo sapiens_hsa040100.60625388
50Leukocyte transendothelial migration_Homo sapiens_hsa046700.58130217
51GnRH signaling pathway_Homo sapiens_hsa049120.57907754
52Long-term potentiation_Homo sapiens_hsa047200.55040176
53mTOR signaling pathway_Homo sapiens_hsa041500.54617125
54Adherens junction_Homo sapiens_hsa045200.51803462
55Longevity regulating pathway - mammal_Homo sapiens_hsa042110.51249139
56Regulation of actin cytoskeleton_Homo sapiens_hsa048100.49124635
57Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.45789359
58Basal cell carcinoma_Homo sapiens_hsa052170.45385538
59Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.42590261
60Insulin secretion_Homo sapiens_hsa049110.42344578
61VEGF signaling pathway_Homo sapiens_hsa043700.42093609
62Proteasome_Homo sapiens_hsa030500.41158777
63Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.37707046
64Platelet activation_Homo sapiens_hsa046110.37683333
65Cysteine and methionine metabolism_Homo sapiens_hsa002700.37252792
66Renin secretion_Homo sapiens_hsa049240.37023940
67Thyroid cancer_Homo sapiens_hsa052160.36835475
68Amoebiasis_Homo sapiens_hsa051460.35401372
69Renal cell carcinoma_Homo sapiens_hsa052110.33950789
70Pentose phosphate pathway_Homo sapiens_hsa000300.31620498
71ECM-receptor interaction_Homo sapiens_hsa045120.30779600
72Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.30710541
73Peroxisome_Homo sapiens_hsa041460.29649955
74Gastric acid secretion_Homo sapiens_hsa049710.25504102
75Butanoate metabolism_Homo sapiens_hsa006500.24278409
76Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.23501631
77Melanogenesis_Homo sapiens_hsa049160.23054695
78Tryptophan metabolism_Homo sapiens_hsa003800.22156871
79Long-term depression_Homo sapiens_hsa047300.21526348
80Arginine biosynthesis_Homo sapiens_hsa002200.21401281
81Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.20569195
82beta-Alanine metabolism_Homo sapiens_hsa004100.20423054
83Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.20201712
84AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.20195438
85Hippo signaling pathway_Homo sapiens_hsa043900.20170528
86Tyrosine metabolism_Homo sapiens_hsa003500.19841568
87HTLV-I infection_Homo sapiens_hsa051660.19759931
88Cholinergic synapse_Homo sapiens_hsa047250.18955689
89Chronic myeloid leukemia_Homo sapiens_hsa052200.18530467
90Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.18185213
91Acute myeloid leukemia_Homo sapiens_hsa052210.17401700
92Phenylalanine metabolism_Homo sapiens_hsa003600.17065269
93Ribosome_Homo sapiens_hsa030100.16478569
94Salivary secretion_Homo sapiens_hsa049700.15984471
95Oocyte meiosis_Homo sapiens_hsa041140.15957273
96PPAR signaling pathway_Homo sapiens_hsa033200.15582652
97Glioma_Homo sapiens_hsa052140.14082421
98Purine metabolism_Homo sapiens_hsa002300.13528095
99Wnt signaling pathway_Homo sapiens_hsa043100.13101480
100Thyroid hormone signaling pathway_Homo sapiens_hsa049190.13039367
101Regulation of autophagy_Homo sapiens_hsa041400.12808967
102Folate biosynthesis_Homo sapiens_hsa007900.11914420
103Type II diabetes mellitus_Homo sapiens_hsa049300.11875254
104Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.11720268
105Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.10245409
106Sulfur relay system_Homo sapiens_hsa041220.09195944
107Fatty acid biosynthesis_Homo sapiens_hsa000610.09113125
108Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.09106616
109RNA degradation_Homo sapiens_hsa030180.09098420
110Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.08784006
111Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.08337594
112Lysine degradation_Homo sapiens_hsa003100.08239048
113Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.07555292
114Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.07013918
115Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.06796073
116Aldosterone synthesis and secretion_Homo sapiens_hsa049250.06695468
117Notch signaling pathway_Homo sapiens_hsa043300.05658747
118Glutathione metabolism_Homo sapiens_hsa004800.05382954
119Neurotrophin signaling pathway_Homo sapiens_hsa047220.03997215
120Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.03571449
121cAMP signaling pathway_Homo sapiens_hsa040240.03536430
122Bladder cancer_Homo sapiens_hsa052190.03428532
123Circadian entrainment_Homo sapiens_hsa047130.02739010
124Metabolic pathways_Homo sapiens_hsa011000.01582928

Most similar genes based on co-expression Upload to Enrichr

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