TMEM52

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: No gene information available for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1skeletal muscle adaptation (GO:0043501)9.23572130
2skeletal muscle fiber development (GO:0048741)8.41942330
3actin filament-based movement (GO:0030048)7.50411898
4plasma membrane repair (GO:0001778)7.41582587
5myotube cell development (GO:0014904)7.08698526
6creatine metabolic process (GO:0006600)6.74468292
7skeletal muscle tissue regeneration (GO:0043403)6.73188730
8striated muscle contraction (GO:0006941)6.69460407
9positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)6.61895919
10sarcomere organization (GO:0045214)6.50293491
11response to stimulus involved in regulation of muscle adaptation (GO:0014874)6.28967007
12glycogen catabolic process (GO:0005980)6.16949087
13pyrimidine ribonucleoside catabolic process (GO:0046133)6.13297248
14cytidine metabolic process (GO:0046087)5.97435444
15cytidine catabolic process (GO:0006216)5.97435444
16cytidine deamination (GO:0009972)5.97435444
17purine nucleotide salvage (GO:0032261)5.91694796
18carnitine shuttle (GO:0006853)5.86786409
19glucan catabolic process (GO:0009251)5.75989646
20myofibril assembly (GO:0030239)5.68137740
21muscle contraction (GO:0006936)5.62302399
22cellular polysaccharide catabolic process (GO:0044247)5.32003436
23regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)5.28392553
24regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.28006786
25response to muscle activity (GO:0014850)5.27086633
26regulation of cell communication by electrical coupling (GO:0010649)5.19965099
27striated muscle atrophy (GO:0014891)5.17772132
28response to inactivity (GO:0014854)5.12609898
29polysaccharide catabolic process (GO:0000272)5.03726041
30muscle system process (GO:0003012)4.94539369
31muscle fiber development (GO:0048747)4.94472967
32glucan biosynthetic process (GO:0009250)4.91873558
33glycogen biosynthetic process (GO:0005978)4.91873558
34striated muscle adaptation (GO:0014888)4.91250292
35fatty acid transmembrane transport (GO:1902001)4.84088958
36regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)4.81406337
37IMP metabolic process (GO:0046040)4.72857517
38fructose metabolic process (GO:0006000)4.72207272
39gluconeogenesis (GO:0006094)4.72059375
40carnitine transmembrane transport (GO:1902603)4.66023872
41negative regulation of potassium ion transmembrane transporter activity (GO:1901017)4.55546050
42actomyosin structure organization (GO:0031032)4.52589208
432-oxoglutarate metabolic process (GO:0006103)4.50072649
44muscle organ morphogenesis (GO:0048644)4.44426963
45muscle atrophy (GO:0014889)4.36699933
46amino-acid betaine transport (GO:0015838)4.36373731
47carnitine transport (GO:0015879)4.36373731
48regulation of acyl-CoA biosynthetic process (GO:0050812)4.33554323
49hexose biosynthetic process (GO:0019319)4.30568161
50regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)4.28370299
51glycogen metabolic process (GO:0005977)4.27884039
52cellular glucan metabolic process (GO:0006073)4.18826084
53glucan metabolic process (GO:0044042)4.18826084
54neuronal action potential propagation (GO:0019227)4.13275927
55positive regulation of mitochondrial calcium ion concentration (GO:0051561)4.06717324
56cardiac muscle hypertrophy (GO:0003300)4.04947194
57tricarboxylic acid cycle (GO:0006099)4.00224416
58negative regulation of skeletal muscle tissue development (GO:0048642)3.99908801
59muscle organ development (GO:0007517)3.92975094
60muscle structure development (GO:0061061)3.89767516
61muscle adaptation (GO:0043500)3.88866201
62response to activity (GO:0014823)3.86677609
63striated muscle hypertrophy (GO:0014897)3.86240615
64ubiquinone biosynthetic process (GO:0006744)3.86199530
65regulation of cofactor metabolic process (GO:0051193)3.85166364
66regulation of coenzyme metabolic process (GO:0051196)3.85166364
67oxaloacetate metabolic process (GO:0006107)3.85097097
68regulation of skeletal muscle cell differentiation (GO:2001014)3.84835106
69cardiac muscle contraction (GO:0060048)3.83157516
70muscle cell fate commitment (GO:0042693)3.81083501
71monosaccharide biosynthetic process (GO:0046364)3.79115782
72neuromuscular synaptic transmission (GO:0007274)3.74299811
73cellular carbohydrate catabolic process (GO:0044275)3.74054338
74IMP biosynthetic process (GO:0006188)3.70654017
75striated muscle cell development (GO:0055002)3.70536902
76negative regulation of potassium ion transmembrane transport (GO:1901380)3.67657455
77regulation of relaxation of muscle (GO:1901077)3.66143438
78negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)3.59952344
79muscle tissue morphogenesis (GO:0060415)3.54964023
80muscle cell cellular homeostasis (GO:0046716)3.50273063
81ubiquinone metabolic process (GO:0006743)3.46085415
82skeletal muscle tissue development (GO:0007519)3.44722897
83negative regulation of muscle hypertrophy (GO:0014741)3.41121769
84muscle hypertrophy (GO:0014896)3.40008069
85otic vesicle formation (GO:0030916)3.39591738
86oxidative phosphorylation (GO:0006119)3.39314722
87adult heart development (GO:0007512)3.39287596
88negative regulation of cAMP-mediated signaling (GO:0043951)3.38656496
89NADH metabolic process (GO:0006734)3.36548634
90regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.33139604
91positive regulation of myotube differentiation (GO:0010831)3.32404591
92cardiac muscle tissue morphogenesis (GO:0055008)3.30912114
93neuromuscular junction development (GO:0007528)3.28370553
94regulation of sulfur metabolic process (GO:0042762)3.26815046
95regulation of actin filament-based movement (GO:1903115)3.26416724
96positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.24296326
97regulation of calcium ion transmembrane transport (GO:1903169)3.20375106
98regulation of calcium ion transmembrane transporter activity (GO:1901019)3.20375106
99quinone biosynthetic process (GO:1901663)3.19394239
100negative regulation of calcium ion transmembrane transport (GO:1903170)3.19034948
101negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.19034948
102skeletal muscle cell differentiation (GO:0035914)3.17937863
103regulation of myoblast differentiation (GO:0045661)3.16959654
104quaternary ammonium group transport (GO:0015697)3.16033080
105cardiac myofibril assembly (GO:0055003)3.15830746
106muscle cell development (GO:0055001)3.15396978
107negative regulation of muscle contraction (GO:0045932)3.15102887
108myotube differentiation (GO:0014902)3.14877701
109regulation of striated muscle contraction (GO:0006942)3.13990665
110cardiac muscle adaptation (GO:0014887)3.13402787
111cardiac muscle hypertrophy in response to stress (GO:0014898)3.13402787
112muscle hypertrophy in response to stress (GO:0003299)3.13402787
113glycolytic process (GO:0006096)3.08426930
114myoblast fusion (GO:0007520)3.07318872
115AMP metabolic process (GO:0046033)3.06251156
116cellular response to dexamethasone stimulus (GO:0071549)3.05829617
117regulation of sequestering of triglyceride (GO:0010889)3.04768597
118striated muscle tissue development (GO:0014706)3.02317874
119cardiac cell development (GO:0055006)3.01259247
120cellular carbohydrate biosynthetic process (GO:0034637)2.98976588
121cardiac muscle cell development (GO:0055013)2.96969640
122regulation of membrane repolarization (GO:0060306)2.90289665
123muscle filament sliding (GO:0030049)12.3474398
124actin-myosin filament sliding (GO:0033275)12.3474398
125regulation of skeletal muscle contraction (GO:0014819)11.8546774
126skeletal muscle contraction (GO:0003009)11.3968482
127sarcoplasmic reticulum calcium ion transport (GO:0070296)10.3490368
128actin-mediated cell contraction (GO:0070252)10.1246149

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human6.60430598
2PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.29127432
3TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.60706311
4ZNF263_19887448_ChIP-Seq_K562_Human3.40606036
5TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.36332757
6ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.96137751
7E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.52283061
8TBX20_22080862_ChIP-Seq_HEART_Mouse2.52148925
9TBX20_22328084_ChIP-Seq_HEART_Mouse2.52148925
10RARG_19884340_ChIP-ChIP_MEFs_Mouse2.44154536
11BCL3_23251550_ChIP-Seq_MUSCLE_Mouse2.43269705
12ESR1_20079471_ChIP-ChIP_T-47D_Human2.36326658
13ESR1_21235772_ChIP-Seq_MCF-7_Human2.26264459
14THAP11_20581084_ChIP-Seq_MESCs_Mouse2.25998851
15ESR2_21235772_ChIP-Seq_MCF-7_Human2.21463091
16EZH2_22144423_ChIP-Seq_EOC_Human2.16554498
17ZNF274_21170338_ChIP-Seq_K562_Hela2.09724507
18CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.06314438
19EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.04992916
20MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.96817523
21PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.89135692
22GATA1_22025678_ChIP-Seq_K562_Human1.86497441
23CTCF_21964334_ChIP-Seq_BJAB-B_Human1.84217417
24CDX2_19796622_ChIP-Seq_MESCs_Mouse1.81669758
25* CTCF_27219007_Chip-Seq_Bcells_Human1.79851034
26FOXH1_21741376_ChIP-Seq_ESCs_Human1.77488126
27THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.74117658
28PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.70813265
29RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.70443694
30* SA1_27219007_Chip-Seq_Bcells_Human1.62070163
31TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.57376558
32* CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.57351964
33TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.51919146
34STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.47990360
35HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.46792480
36RBPJ_22232070_ChIP-Seq_NCS_Mouse1.45976484
37YY1_22570637_ChIP-Seq_MALME-3M_Human1.43474963
38DROSHA_22980978_ChIP-Seq_HELA_Human1.43056879
39SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.42691603
40STAT6_21828071_ChIP-Seq_BEAS2B_Human1.42506841
41OCT4_20526341_ChIP-Seq_ESCs_Human1.42475729
42TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.42189146
43RXR_22158963_ChIP-Seq_LIVER_Mouse1.42178574
44TDRD3_21172665_ChIP-Seq_MCF-7_Human1.38105140
45TET1_21451524_ChIP-Seq_MESCs_Mouse1.36395391
46MYC_18358816_ChIP-ChIP_MESCs_Mouse1.36288953
47SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.35848076
48STAT3_1855785_ChIP-Seq_MESCs_Mouse1.33723346
49STAT1_20625510_ChIP-Seq_HELA_Human1.29919204
50ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.29666072
51SRF_21415370_ChIP-Seq_HL-1_Mouse1.29131786
52* CTCF_21964334_Chip-Seq_Bcells_Human1.26315329
53SMC3_22415368_ChIP-Seq_MEFs_Mouse1.26292106
54CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.25517510
55JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.24691156
56P68_20966046_ChIP-Seq_HELA_Human1.24548410
57P63_26484246_Chip-Seq_KERATINOCYTES_Human1.22399223
58DNAJC2_21179169_ChIP-ChIP_NT2_Human1.21187191
59EP300_21415370_ChIP-Seq_HL-1_Mouse1.20967681
60MYC_27129775_Chip-Seq_CORNEA_Mouse1.20581241
61ZFX_18555785_ChIP-Seq_MESCs_Mouse1.20118773
62MYC_18555785_ChIP-Seq_MESCs_Mouse1.18115449
63* RACK7_27058665_Chip-Seq_MCF-7_Human1.17553532
64NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.17057884
65PPARA_22158963_ChIP-Seq_LIVER_Mouse1.16659686
66PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.16289810
67CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.15918453
68NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.15141398
69ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.14602103
70* SA1_27219007_Chip-Seq_ERYTHROID_Human1.14511823
71BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.14231003
72CTCF_26484167_Chip-Seq_Bcells_Mouse1.13729608
73YY1_21170310_ChIP-Seq_MESCs_Mouse1.12362359
74ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.10523035
75NANOG_20526341_ChIP-Seq_ESCs_Human1.09460073
76* RAC3_21632823_ChIP-Seq_H3396_Human1.08906309
77KLF4_19829295_ChIP-Seq_ESCs_Human1.08782412
78CLOCK_20551151_ChIP-Seq_293T_Human1.08620317
79CREB1_26743006_Chip-Seq_LNCaP_Human1.08105231
80SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.07996359
81TBX5_21415370_ChIP-Seq_HL-1_Mouse1.07564738
82ATF3_27146783_Chip-Seq_COLON_Human1.07397735
83FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.06711116
84ZFP281_18757296_ChIP-ChIP_E14_Mouse1.06363739
85UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.05988867
86* TP63_22573176_ChIP-Seq_HFKS_Human1.05592540
87* MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.05434968
88NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.05413402
89NFIB_24661679_ChIP-Seq_LUNG_Mouse1.04030036
90P63_20808887_ChIP-Seq_KERATINOCYTES_Human1.03949496
91SMC4_20622854_ChIP-Seq_HELA_Human1.02921204
92PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.02634178
93AR_21572438_ChIP-Seq_LNCaP_Human1.02275697
94LXR_22292898_ChIP-Seq_THP-1_Human1.02183442
95SMC1_22415368_ChIP-Seq_MEFs_Mouse1.01777259
96E2F1_20622854_ChIP-Seq_HELA_Human1.01346754
97GATA4_21415370_ChIP-Seq_HL-1_Mouse1.00792887
98MYC_19030024_ChIP-ChIP_MESCs_Mouse0.99944725
99RUNX1_27514584_Chip-Seq_MCF-7_Human0.99534357
100EZH2_27294783_Chip-Seq_ESCs_Mouse0.99508875
101* FOXP1_21924763_ChIP-Seq_HESCs_Human0.99162458
102KDM2B_26808549_Chip-Seq_DND41_Human0.99143786
103DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.97917551
104CSB_26484114_Chip-Seq_FIBROBLAST_Human0.97248021
105* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.96874752
106TP53_20018659_ChIP-ChIP_R1E_Mouse0.96586743
107SETDB1_19884255_ChIP-Seq_MESCs_Mouse0.96458838
108ELF1_20517297_ChIP-Seq_JURKAT_Human0.96263437
109* CTCF_27219007_Chip-Seq_ERYTHROID_Human0.95270490
110CBP_20019798_ChIP-Seq_JUKART_Human0.95131863
111IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.95131863
112BCL6_27268052_Chip-Seq_Bcells_Human0.93383294
113BCOR_27268052_Chip-Seq_Bcells_Human0.93315636
114RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.93171902
115ZFP42_18358816_ChIP-ChIP_MESCs_Mouse0.92996331
116SRY_22984422_ChIP-ChIP_TESTIS_Rat0.92681418
117TAF2_19829295_ChIP-Seq_ESCs_Human0.92651350
118* KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.92597304
119* OCT4_19829295_ChIP-Seq_ESCs_Human0.92456064
120SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.91962061
121DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.91949450
122RARB_27405468_Chip-Seq_BRAIN_Mouse0.91782592
123RARA_24833708_ChIP-Seq_LIVER_Mouse0.91346928
124LUZP1_20508642_ChIP-Seq_ESCs_Mouse0.90885538
125SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.90810636
126CEBPB_22108803_ChIP-Seq_LS180_Human0.90791484
127ERG_21242973_ChIP-ChIP_JURKAT_Human0.90096955
128* ETS1_21867929_ChIP-Seq_TH2_Mouse0.89908117
129GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse0.88563970
130TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.88542888
131KLF4_18555785_ChIP-Seq_MESCs_Mouse0.88378241
132RAD21_21589869_ChIP-Seq_MESCs_Mouse0.88346484
133SPI1_20517297_ChIP-Seq_HL60_Human0.88345147
134GATA3_21867929_ChIP-Seq_CD8_Mouse0.88344794
135CREB1_15753290_ChIP-ChIP_HEK293T_Human0.87848529
136* GATA6_21074721_ChIP-Seq_CACO-2_Human0.87565857
137EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.85735180
138GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.85490237
139* GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.84989021
140PPAR_26484153_Chip-Seq_NCI-H1993_Human0.83901775

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004145_abnormal_muscle_electrophysio7.97406816
2MP0003646_muscle_fatigue6.85641985
3MP0000749_muscle_degeneration6.20259967
4MP0000751_myopathy5.54888528
5MP0000747_muscle_weakness4.51707621
6MP0002106_abnormal_muscle_physiology4.16660969
7MP0004036_abnormal_muscle_relaxation4.12966703
8MP0000759_abnormal_skeletal_muscle3.72193286
9MP0002269_muscular_atrophy3.57009183
10MP0005369_muscle_phenotype3.47274269
11MP0004087_abnormal_muscle_fiber3.41312388
12MP0000750_abnormal_muscle_regeneration3.27089812
13MP0002837_dystrophic_cardiac_calcinosis3.25120033
14MP0004130_abnormal_muscle_cell3.15991121
15MP0005620_abnormal_muscle_contractility3.03084461
16MP0004233_abnormal_muscle_weight2.85047844
17MP0000733_abnormal_muscle_development2.34593521
18MP0002332_abnormal_exercise_endurance2.01356525
19MP0006036_abnormal_mitochondrial_physio1.98326999
20MP0005330_cardiomyopathy1.95638331
21MP0002108_abnormal_muscle_morphology1.94393325
22MP0004084_abnormal_cardiac_muscle1.85954606
23MP0004185_abnormal_adipocyte_glucose1.65521876
24MP0000013_abnormal_adipose_tissue1.52018048
25MP0004215_abnormal_myocardial_fiber1.47516051
26MP0004270_analgesia1.45763116
27MP0005666_abnormal_adipose_tissue1.45564073
28MP0002971_abnormal_brown_adipose1.42418756
29MP0004484_altered_response_of1.40030312
30MP0002234_abnormal_pharynx_morphology1.34220022
31MP0001661_extended_life_span1.25679725
32MP0006035_abnormal_mitochondrial_morpho1.25628182
33MP0003221_abnormal_cardiomyocyte_apopto1.22749387
34MP0002972_abnormal_cardiac_muscle1.21837956
35MP0010630_abnormal_cardiac_muscle1.17100340
36MP0005375_adipose_tissue_phenotype1.16894696
37MP0002822_catalepsy1.11837892
38MP0004043_abnormal_pH_regulation1.08676126
39MP0003806_abnormal_nucleotide_metabolis1.04324230
40MP0005266_abnormal_metabolism0.95364472
41MP0010030_abnormal_orbit_morphology0.92723732
42MP0008961_abnormal_basal_metabolism0.92411939
43MP0001544_abnormal_cardiovascular_syste0.91736640
44MP0005385_cardiovascular_system_phenoty0.91736640
45MP0004510_myositis0.89312287
46MP0000762_abnormal_tongue_morphology0.82211105
47MP0003950_abnormal_plasma_membrane0.82003045
48MP0000003_abnormal_adipose_tissue0.81127237
49MP0004134_abnormal_chest_morphology0.79762097
50MP0009250_abnormal_appendicular_skeleto0.77242686
51MP0003137_abnormal_impulse_conducting0.76030841
52MP0002089_abnormal_postnatal_growth/wei0.71461837
53MP0004147_increased_porphyrin_level0.69971393
54MP0000372_irregular_coat_pigmentation0.69366147
55MP0001346_abnormal_lacrimal_gland0.66126357
56MP0005670_abnormal_white_adipose0.62141781
57MP0009780_abnormal_chondrocyte_physiolo0.60165144
58MP0003656_abnormal_erythrocyte_physiolo0.59255519
59MP0006138_congestive_heart_failure0.58621099
60MP0008569_lethality_at_weaning0.57547258
61MP0002078_abnormal_glucose_homeostasis0.54245717
62MP0003195_calcinosis0.52024720
63MP0000343_altered_response_to0.51479771
64MP0002249_abnormal_larynx_morphology0.50635596
65MP0000266_abnormal_heart_morphology0.49421579
66MP0001299_abnormal_eye_distance/0.49360620
67MP0005334_abnormal_fat_pad0.48422883
68MP0004142_abnormal_muscle_tone0.47620875
69MP0000678_abnormal_parathyroid_gland0.46700781
70MP0003828_pulmonary_edema0.46521603
71MP0005584_abnormal_enzyme/coenzyme_acti0.45881842
72MP0005452_abnormal_adipose_tissue0.45759349
73MP0001765_abnormal_ion_homeostasis0.45672719
74MP0003705_abnormal_hypodermis_morpholog0.42617329
75MP0002127_abnormal_cardiovascular_syste0.41835421
76MP0000383_abnormal_hair_follicle0.40646634
77MP0008775_abnormal_heart_ventricle0.40165646
78MP0001529_abnormal_vocalization0.40094777
79MP0005319_abnormal_enzyme/_coenzyme0.37806402
80MP0004858_abnormal_nervous_system0.37067673
81MP0003045_fibrosis0.35288289
82MP0002114_abnormal_axial_skeleton0.35065046
83MP0003941_abnormal_skin_development0.34569961
84MP0009672_abnormal_birth_weight0.33659833
85MP0003948_abnormal_gas_homeostasis0.30692388
86MP0000230_abnormal_systemic_arterial0.30522518
87MP0003879_abnormal_hair_cell0.30396482
88MP0003123_paternal_imprinting0.29391148
89MP0004197_abnormal_fetal_growth/weight/0.29214934
90MP0002896_abnormal_bone_mineralization0.28680037
91MP0003567_abnormal_fetal_cardiomyocyte0.28535481
92MP0009840_abnormal_foam_cell0.28274924
93MP0005083_abnormal_biliary_tract0.27771858
94MP0009115_abnormal_fat_cell0.26092786
95MP0005332_abnormal_amino_acid0.25547401
96MP0001849_ear_inflammation0.25513051
97MP0005377_hearing/vestibular/ear_phenot0.25468113
98MP0003878_abnormal_ear_physiology0.25468113
99MP0002118_abnormal_lipid_homeostasis0.25372170
100MP0008260_abnormal_autophagy0.25334162
101MP0003959_abnormal_lean_body0.24368893
102MP0001440_abnormal_grooming_behavior0.23707294
103MP0002734_abnormal_mechanical_nocicepti0.23649392
104MP0001727_abnormal_embryo_implantation0.23524787
105MP0005451_abnormal_body_composition0.22908146
106MP0001730_embryonic_growth_arrest0.22850412
107MP0002066_abnormal_motor_capabilities/c0.22246667
108MP0005535_abnormal_body_temperature0.22178564
109MP0009697_abnormal_copulation0.22127317
110MP0001943_abnormal_respiration0.22000627
111MP0001853_heart_inflammation0.21912325
112MP0005187_abnormal_penis_morphology0.21700872
113MP0002128_abnormal_blood_circulation0.20709138
114MP0003755_abnormal_palate_morphology0.20627040
115MP0004085_abnormal_heartbeat0.20594313
116MP0005376_homeostasis/metabolism_phenot0.20379522
117MP0010678_abnormal_skin_adnexa0.19148128
118MP0009703_decreased_birth_body0.18767047
119MP0005423_abnormal_somatic_nervous0.18749425
120MP0008770_decreased_survivor_rate0.18311659
121MP0002638_abnormal_pupillary_reflex0.17885396

Predicted human phenotypes

RankGene SetZ-score
1Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)9.92189321
2Nemaline bodies (HP:0003798)9.48665264
3Exercise-induced myalgia (HP:0003738)8.68795821
4Exercise-induced muscle cramps (HP:0003710)7.64880917
5Type 1 muscle fiber predominance (HP:0003803)7.54542290
6Myopathic facies (HP:0002058)7.15497965
7Distal arthrogryposis (HP:0005684)6.95553813
8Muscle hypertrophy of the lower extremities (HP:0008968)6.76178889
9Round ear (HP:0100830)6.09223976
10Calf muscle hypertrophy (HP:0008981)5.89089223
11Ulnar deviation of the wrist (HP:0003049)5.86331478
12Difficulty running (HP:0009046)5.49958432
13Muscle fiber splitting (HP:0003555)5.43018985
14Calcaneovalgus deformity (HP:0001848)5.10694947
15Myoglobinuria (HP:0002913)5.01750320
16Hyporeflexia of lower limbs (HP:0002600)4.87048202
17Muscle stiffness (HP:0003552)4.72483179
18Deformed tarsal bones (HP:0008119)4.70748510
19Absent phalangeal crease (HP:0006109)4.60987672
20EMG: myopathic abnormalities (HP:0003458)4.47150733
21Rhabdomyolysis (HP:0003201)4.31488541
22Increased connective tissue (HP:0009025)4.19969070
23Myotonia (HP:0002486)4.03243916
24Abnormal finger flexion creases (HP:0006143)3.90636495
25Abnormality of the calf musculature (HP:0001430)3.90101206
26Abnormality of skeletal muscle fiber size (HP:0012084)3.79079243
27Neck muscle weakness (HP:0000467)3.57900029
28Rimmed vacuoles (HP:0003805)3.56201888
29Difficulty climbing stairs (HP:0003551)3.55921744
30Subaortic stenosis (HP:0001682)3.46396096
31Abnormality of the left ventricular outflow tract (HP:0011103)3.46396096
32Malignant hyperthermia (HP:0002047)3.44437741
33Areflexia of lower limbs (HP:0002522)3.43160020
34Increased variability in muscle fiber diameter (HP:0003557)3.34603151
35Pelvic girdle muscle weakness (HP:0003749)3.18093880
36Frequent falls (HP:0002359)3.13251634
37Shoulder girdle muscle weakness (HP:0003547)3.12272695
38Hyperkalemia (HP:0002153)3.06547186
39Abnormality of the musculature of the pelvis (HP:0001469)3.05767788
40Abnormality of the hip-girdle musculature (HP:0001445)3.05767788
41Abnormality of the calcaneus (HP:0008364)3.04037072
42Asymmetric septal hypertrophy (HP:0001670)2.87938824
43Distal lower limb muscle weakness (HP:0009053)2.69115374
44Abnormality of the neuromuscular junction (HP:0003398)2.60621256
45Fatigable weakness (HP:0003473)2.60621256
46Paralysis (HP:0003470)2.60202240
47EMG: neuropathic changes (HP:0003445)2.52190725
48Sudden death (HP:0001699)2.51034814
49Progressive muscle weakness (HP:0003323)2.43611672
50Slender build (HP:0001533)2.34690120
51Proximal amyotrophy (HP:0007126)2.33857548
52Muscular dystrophy (HP:0003560)2.32212198
53Generalized muscle weakness (HP:0003324)2.29111811
54Bulbar palsy (HP:0001283)2.22696747
55Nonprogressive disorder (HP:0003680)2.21483343
56Limb-girdle muscle weakness (HP:0003325)2.21382401
57Facial diplegia (HP:0001349)2.21214248
58Mildly elevated creatine phosphokinase (HP:0008180)2.17626087
59Gowers sign (HP:0003391)2.15346362
60Ragged-red muscle fibers (HP:0003200)2.08849322
61Weak cry (HP:0001612)2.03760128
62Abnormality of the shoulder girdle musculature (HP:0001435)2.02790153
63Spinal rigidity (HP:0003306)2.00754231
64Muscle fiber inclusion bodies (HP:0100299)10.4644445
65Centrally nucleated skeletal muscle fibers (HP:0003687)1.97397297
66Abnormality of the foot musculature (HP:0001436)1.95499559
67Gout (HP:0001997)1.93028791
68Scapular winging (HP:0003691)1.91908674
69Ulnar deviation of finger (HP:0009465)1.90454396
70Limb-girdle muscle atrophy (HP:0003797)1.90305090
71Hypoplastic ischia (HP:0003175)1.88505289
72Metatarsus adductus (HP:0001840)1.87491004
73Increased intramyocellular lipid droplets (HP:0012240)1.87331698
74Lower limb amyotrophy (HP:0007210)1.81585533
75Foot dorsiflexor weakness (HP:0009027)1.80681138
76Waddling gait (HP:0002515)1.80601535
77Fetal akinesia sequence (HP:0001989)1.79291848
78Hyperuricemia (HP:0002149)1.78331552
79Increased purine levels (HP:0004368)1.78331552
80Bundle branch block (HP:0011710)1.77403781
81Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.76919594
82Distal lower limb amyotrophy (HP:0008944)1.76909495
83Increased muscle lipid content (HP:0009058)1.73852090
84Ventricular tachycardia (HP:0004756)1.73296263
85Achilles tendon contracture (HP:0001771)1.72480000
86Hip contracture (HP:0003273)1.69868579
87Short palpebral fissure (HP:0012745)1.68300781
88Abnormal atrioventricular conduction (HP:0005150)1.64224012
89Popliteal pterygium (HP:0009756)1.63001813
90Stridor (HP:0010307)1.62300346
91Abnormality of the ischium (HP:0003174)1.61171542
92Abnormality of potassium homeostasis (HP:0011042)1.58809318
93Abnormality of the Achilles tendon (HP:0005109)1.56032639
94Increased serum pyruvate (HP:0003542)1.53504517
95Type 2 muscle fiber atrophy (HP:0003554)1.53478561
96Ulnar deviation of the hand or of fingers of the hand (HP:0001193)1.48896718
97Tarsal synostosis (HP:0008368)1.48649483
98Respiratory insufficiency due to muscle weakness (HP:0002747)1.48439482
99Abnormality of glycolysis (HP:0004366)1.47974853
100Hyperphosphatemia (HP:0002905)1.47148878
101Long clavicles (HP:0000890)1.47141734
102Muscle fiber atrophy (HP:0100295)1.45388530
103Cholelithiasis (HP:0001081)1.43275310
104Lipoatrophy (HP:0100578)1.42561800
105Dilated cardiomyopathy (HP:0001644)1.42316239
106Ventricular arrhythmia (HP:0004308)1.41240989
107Easy fatigability (HP:0003388)1.41089430
108Abnormal mitochondria in muscle tissue (HP:0008316)1.40138687
109Diaphragmatic weakness (HP:0009113)1.38488890
110Synostosis involving bones of the feet (HP:0009140)1.36994260
111Synostosis involving bones of the lower limbs (HP:0009138)1.36994260
112Congenital hip dislocation (HP:0001374)1.36001468
113Adducted thumb (HP:0001181)1.35648459
114Exercise intolerance (HP:0003546)1.35503465
115Acute necrotizing encephalopathy (HP:0006965)1.34494290
116Heart block (HP:0012722)1.33773255

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN8.89860969
2TTN6.18190441
3PHKG15.17983667
4PHKG25.17983667
5NME14.23932466
6PIK3CG3.82665546
7PINK12.61824193
8MAP2K32.60200966
9PDK32.57005097
10PDK42.57005097
11NEK12.35265923
12MAP3K71.92918408
13BCKDK1.91660191
14TRIB31.84042214
15PDK21.78911523
16MUSK1.73016519
17DMPK1.69938446
18EEF2K1.60913620
19MAPK121.56442868
20MAP2K61.53305021
21MAP2K41.38207563
22PIK3CA1.38065844
23PRKAA20.91496840
24PRKAA10.83217056
25STK240.82422040
26ZAK0.80532275
27MAP3K30.77913654
28PNCK0.73482520
29EPHA20.72213796
30CAMK2G0.71492205
31TAOK20.71225203
32MARK10.69187394
33ERBB30.68990752
34AKT20.67192140
35VRK20.63383225
36NEK90.61750413
37MAPKAPK30.56269138
38TNIK0.55844169
39MAP3K110.54380841
40CAMK40.50835486
41MAPK110.47993593
42ARAF0.47583703
43MAP3K130.46896954
44LATS20.46303027
45EPHB10.45211228
46TAOK10.39852444
47PRKD30.36682296
48SMG10.33725173
49TRPM70.33366079
50PRKACB0.32263330
51MAP3K90.31951495
52CAMK10.31856597
53CAMK2A0.31201905
54PKN20.31132525
55RIPK10.29980501
56DYRK30.29952651
57MAP3K50.29688326
58PTK60.28732556
59ILK0.28316146
60DYRK1B0.27713737
61BRAF0.27180900
62CDK190.26886101
63PRKG10.26472614
64PRPF4B0.26021853
65STK38L0.26006998
66ICK0.25863164
67MAP3K100.25802304
68PDPK10.25134924
69SGK10.24978344
70MAP2K10.24659569
71RPS6KB10.24354124
72MAPK40.23990531
73SIK10.23633616
74RPS6KA30.23543009
75MAPK70.22128444
76TIE10.21797239
77MAP3K60.21403535
78RAF10.20165844
79PBK0.19895380
80PRKACA0.19709645
81PDK10.19579068
82EIF2AK10.18329310
83BUB10.18204671
84TGFBR20.16837981
85TTK0.16433344
86MARK30.15063179
87STK380.14884489
88CAMK2D0.14833982
89PKN10.14131623
90MAPK130.12650505
91TBK10.12587370
92AKT30.11946306
93STK110.11823937
94MARK20.11698400
95MAP2K20.11691771
96ROCK10.11037117
97PAK10.10859054
98MOS0.09202046
99KSR20.08929392
100STK160.08718114
101PRKD10.08660979
102GSK3B0.07965937
103CSNK2A20.06409413
104MAPK90.06239680
105MET0.06166015
106CDK10.05840649
107RPS6KC10.05377731
108RPS6KL10.05377731
109CAMK1G0.05308173
110MAPK140.05038021
111LIMK10.04961656
112MTOR0.04486633
113MAPK100.03466695
114MAPK80.03400600
115PRKACG0.03096283
116PRKCG0.02631703
117CDK30.02405669
118MAP3K10.02340667
119RPS6KA10.01491389
120GSK3A0.01178803
121SGK30.01049719
122CSNK1A10.00926588
123CAMK2B0.00916219
124CSNK1D-0.0461057
125LATS1-0.0335545
126PRKCA-0.0331326
127EIF2AK3-0.0307755
128CSNK1E-0.0303850
129FGFR1-0.0181440
130PTK2B-0.0143904
131PAK6-0.0069914
132CCNB1-0.0066345
133RPS6KB2-0.0027466
134MAP3K8-0.0012535

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000204.51167045
2Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054103.91905344
3Cardiac muscle contraction_Homo sapiens_hsa042603.65076102
42-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.49912724
5Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054123.33312358
6Dilated cardiomyopathy_Homo sapiens_hsa054143.06612255
7Circadian rhythm_Homo sapiens_hsa047102.76725895
8Propanoate metabolism_Homo sapiens_hsa006402.69721603
9Starch and sucrose metabolism_Homo sapiens_hsa005002.67142041
10Carbon metabolism_Homo sapiens_hsa012002.40260101
11Glucagon signaling pathway_Homo sapiens_hsa049222.33341019
12Insulin signaling pathway_Homo sapiens_hsa049102.12965244
13Oxytocin signaling pathway_Homo sapiens_hsa049212.08530957
14Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.07494629
15Insulin resistance_Homo sapiens_hsa049311.94016882
16Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.92994323
17Fructose and mannose metabolism_Homo sapiens_hsa000511.85560068
18Parkinsons disease_Homo sapiens_hsa050121.82050596
19Adipocytokine signaling pathway_Homo sapiens_hsa049201.74447960
20Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.74273248
21Pyruvate metabolism_Homo sapiens_hsa006201.70272497
22AMPK signaling pathway_Homo sapiens_hsa041521.68556741
23Fatty acid degradation_Homo sapiens_hsa000711.67178934
24Calcium signaling pathway_Homo sapiens_hsa040201.65816287
25Oxidative phosphorylation_Homo sapiens_hsa001901.64730064
26Alzheimers disease_Homo sapiens_hsa050101.61731786
27Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.52912912
28Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.52884129
29Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.51561323
30Galactose metabolism_Homo sapiens_hsa000521.50863716
31Biosynthesis of amino acids_Homo sapiens_hsa012301.47979745
32Phenylalanine metabolism_Homo sapiens_hsa003601.42718139
33Pentose phosphate pathway_Homo sapiens_hsa000301.38930908
34Tight junction_Homo sapiens_hsa045301.36441964
35Arginine and proline metabolism_Homo sapiens_hsa003301.30551399
36Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.28435416
37Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.26233849
38Fatty acid metabolism_Homo sapiens_hsa012121.24946493
39Nitrogen metabolism_Homo sapiens_hsa009101.17507724
40Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.14708811
41Fatty acid elongation_Homo sapiens_hsa000621.11622923
42Viral myocarditis_Homo sapiens_hsa054161.09825318
43cGMP-PKG signaling pathway_Homo sapiens_hsa040221.05048700
44Huntingtons disease_Homo sapiens_hsa050161.02869661
45Vascular smooth muscle contraction_Homo sapiens_hsa042700.99290163
46Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.93366380
47Fatty acid biosynthesis_Homo sapiens_hsa000610.90598685
48Gastric acid secretion_Homo sapiens_hsa049710.88210590
49Longevity regulating pathway - mammal_Homo sapiens_hsa042110.87054772
50Arginine biosynthesis_Homo sapiens_hsa002200.84768737
51FoxO signaling pathway_Homo sapiens_hsa040680.83204336
52Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.77603806
53mTOR signaling pathway_Homo sapiens_hsa041500.77602546
54GnRH signaling pathway_Homo sapiens_hsa049120.73238556
55Glycerophospholipid metabolism_Homo sapiens_hsa005640.72742300
56Vitamin B6 metabolism_Homo sapiens_hsa007500.72441819
57Focal adhesion_Homo sapiens_hsa045100.70295675
58Central carbon metabolism in cancer_Homo sapiens_hsa052300.65144558
59Butanoate metabolism_Homo sapiens_hsa006500.64688938
60HIF-1 signaling pathway_Homo sapiens_hsa040660.59524456
61Renin secretion_Homo sapiens_hsa049240.57854569
62beta-Alanine metabolism_Homo sapiens_hsa004100.56623585
63Regulation of autophagy_Homo sapiens_hsa041400.54720494
64PPAR signaling pathway_Homo sapiens_hsa033200.54475285
65alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.53456435
66MAPK signaling pathway_Homo sapiens_hsa040100.53227013
67Proteasome_Homo sapiens_hsa030500.52661826
68Tyrosine metabolism_Homo sapiens_hsa003500.49384815
69Linoleic acid metabolism_Homo sapiens_hsa005910.45633815
70Ribosome_Homo sapiens_hsa030100.43224437
71Insulin secretion_Homo sapiens_hsa049110.42550621
72Aldosterone synthesis and secretion_Homo sapiens_hsa049250.42014786
73Lysine degradation_Homo sapiens_hsa003100.41740805
74VEGF signaling pathway_Homo sapiens_hsa043700.41337799
75Purine metabolism_Homo sapiens_hsa002300.40960904
76Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.40041605
77Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.37729360
78Folate biosynthesis_Homo sapiens_hsa007900.36777239
79Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.35894734
80Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.35821481
81Cyanoamino acid metabolism_Homo sapiens_hsa004600.35118270
82Regulation of actin cytoskeleton_Homo sapiens_hsa048100.34539222
83Thyroid hormone signaling pathway_Homo sapiens_hsa049190.33710810
84Cysteine and methionine metabolism_Homo sapiens_hsa002700.33493534
85Renal cell carcinoma_Homo sapiens_hsa052110.33321015
86Oocyte meiosis_Homo sapiens_hsa041140.31929549
87Tryptophan metabolism_Homo sapiens_hsa003800.31828004
88Fat digestion and absorption_Homo sapiens_hsa049750.29683303
89Thyroid cancer_Homo sapiens_hsa052160.29646126
90Pancreatic secretion_Homo sapiens_hsa049720.29208118
91Metabolic pathways_Homo sapiens_hsa011000.28803863
92Glutathione metabolism_Homo sapiens_hsa004800.28574478
93Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.27612518
94Adherens junction_Homo sapiens_hsa045200.27206457
95Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.26401401
96Peroxisome_Homo sapiens_hsa041460.26064399
97Arachidonic acid metabolism_Homo sapiens_hsa005900.25517678
98Type II diabetes mellitus_Homo sapiens_hsa049300.24129191
99Leukocyte transendothelial migration_Homo sapiens_hsa046700.23723980
100Histidine metabolism_Homo sapiens_hsa003400.21466774
101Nucleotide excision repair_Homo sapiens_hsa034200.20349986
102RNA polymerase_Homo sapiens_hsa030200.20345511
103Proteoglycans in cancer_Homo sapiens_hsa052050.18394746
104Amoebiasis_Homo sapiens_hsa051460.17557474
105Glycerolipid metabolism_Homo sapiens_hsa005610.16508668
106Sulfur relay system_Homo sapiens_hsa041220.15666838
107RNA degradation_Homo sapiens_hsa030180.15583286
108Platelet activation_Homo sapiens_hsa046110.15341572
109Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.14478018
110Long-term depression_Homo sapiens_hsa047300.13683905
111Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.12892811
112Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.12851921
113Circadian entrainment_Homo sapiens_hsa047130.12328698
114Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.12164785
115Choline metabolism in cancer_Homo sapiens_hsa052310.11896680
116Carbohydrate digestion and absorption_Homo sapiens_hsa049730.10408432
117cAMP signaling pathway_Homo sapiens_hsa040240.09706109
118RNA transport_Homo sapiens_hsa030130.09248658
119Sulfur metabolism_Homo sapiens_hsa009200.08890309
120Pyrimidine metabolism_Homo sapiens_hsa002400.08491482
121Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.06817213
122Long-term potentiation_Homo sapiens_hsa047200.06792374
123Caffeine metabolism_Homo sapiens_hsa002320.05849336
124Dorso-ventral axis formation_Homo sapiens_hsa043200.05249527

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