TRDN

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 an integral membrane protein that contains a single transmembrane domain. As similar protein in rabbits plays a role in skeletal muscle excitation-contraction coupling as part of the calcium release complex in association with the ryanodine receptor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and single nucleotide polymorphisms in this gene may be markers for IgA nephritis. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of skeletal muscle contraction (GO:0014819)9.87164901
2actin-mediated cell contraction (GO:0070252)8.91618597
3sarcomere organization (GO:0045214)8.43717895
4skeletal muscle contraction (GO:0003009)7.92532293
5myofibril assembly (GO:0030239)7.38864671
6skeletal muscle adaptation (GO:0043501)7.08966633
7negative regulation of potassium ion transmembrane transporter activity (GO:1901017)7.05736503
8* sarcoplasmic reticulum calcium ion transport (GO:0070296)6.85640354
9plasma membrane repair (GO:0001778)6.85346164
10actin filament-based movement (GO:0030048)6.65488271
11striated muscle contraction (GO:0006941)6.55215166
12cardiac myofibril assembly (GO:0055003)6.52740732
13response to stimulus involved in regulation of muscle adaptation (GO:0014874)6.37517069
14* regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)6.25920089
15carnitine shuttle (GO:0006853)6.10659281
16negative regulation of potassium ion transmembrane transport (GO:1901380)6.00222526
17regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)5.92817287
18cardiac muscle contraction (GO:0060048)5.91724090
19regulation of relaxation of muscle (GO:1901077)5.90678911
20tricarboxylic acid cycle (GO:0006099)5.65440244
21actomyosin structure organization (GO:0031032)5.63144062
22* regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.40707454
23regulation of acyl-CoA biosynthetic process (GO:0050812)5.40060911
24creatine metabolic process (GO:0006600)5.39883148
25* positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)5.36608101
26fatty acid transmembrane transport (GO:1902001)5.26759819
27regulation of actin filament-based movement (GO:1903115)5.15821524
28regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO5.11311443
29response to inactivity (GO:0014854)5.08861910
30cardiac muscle cell development (GO:0055013)5.08172425
31glycogen catabolic process (GO:0005980)4.97751241
32striated muscle atrophy (GO:0014891)4.94900280
33regulation of cofactor metabolic process (GO:0051193)4.91338835
34regulation of coenzyme metabolic process (GO:0051196)4.91338835
35* muscle contraction (GO:0006936)4.87812697
36regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)4.84405813
37cardiac cell development (GO:0055006)4.75846925
38response to muscle activity (GO:0014850)4.74161900
39skeletal muscle fiber development (GO:0048741)4.73961388
40striated muscle adaptation (GO:0014888)4.73468793
41glucan catabolic process (GO:0009251)4.65010022
42pyrimidine ribonucleoside catabolic process (GO:0046133)4.64306143
43skeletal muscle tissue development (GO:0007519)4.62099790
44regulation of striated muscle contraction (GO:0006942)4.56747425
45carnitine transmembrane transport (GO:1902603)4.49997033
46regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)4.48971116
47skeletal muscle tissue regeneration (GO:0043403)4.47584026
48cytidine deamination (GO:0009972)4.45089145
49cytidine metabolic process (GO:0046087)4.45089145
50cytidine catabolic process (GO:0006216)4.45089145
51* muscle system process (GO:0003012)4.44124897
52cardiac muscle hypertrophy (GO:0003300)4.43712507
53striated muscle hypertrophy (GO:0014897)4.41873041
54cardiac muscle tissue morphogenesis (GO:0055008)4.35908471
55* regulation of cell communication by electrical coupling (GO:0010649)4.35553185
56cellular polysaccharide catabolic process (GO:0044247)4.33911251
57regulation of sarcomere organization (GO:0060297)4.30182448
58muscle atrophy (GO:0014889)4.26584391
59muscle fiber development (GO:0048747)4.23664977
60muscle tissue morphogenesis (GO:0060415)4.17549875
61glucan biosynthetic process (GO:0009250)4.13386892
62glycogen biosynthetic process (GO:0005978)4.13386892
63myotube cell development (GO:0014904)4.13137688
64polysaccharide catabolic process (GO:0000272)4.11877057
65carnitine transport (GO:0015879)4.10053526
66amino-acid betaine transport (GO:0015838)4.10053526
67regulation of membrane repolarization (GO:0060306)4.01961090
68ventricular cardiac muscle cell action potential (GO:0086005)4.01755805
69striated muscle cell development (GO:0055002)4.00396765
70regulation of sulfur metabolic process (GO:0042762)3.99982228
71mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.99897430
72regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.98908715
73muscle cell fate commitment (GO:0042693)3.92155124
74regulation of the force of heart contraction (GO:0002026)3.91866414
75muscle hypertrophy (GO:0014896)3.90603985
76adult heart development (GO:0007512)3.90470966
77muscle adaptation (GO:0043500)3.89025373
78oxidative phosphorylation (GO:0006119)3.78072309
79respiratory electron transport chain (GO:0022904)3.77748861
80muscle structure development (GO:0061061)3.74903858
81muscle organ development (GO:0007517)3.73927426
82mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.69629120
83electron transport chain (GO:0022900)3.66072841
84gluconeogenesis (GO:0006094)3.65615815
85glycogen metabolic process (GO:0005977)3.61686447
86positive regulation of myotube differentiation (GO:0010831)3.60787407
87response to activity (GO:0014823)3.59400490
88fructose metabolic process (GO:0006000)3.57928159
89heart trabecula formation (GO:0060347)3.55705404
90relaxation of muscle (GO:0090075)3.55382781
91glucan metabolic process (GO:0044042)3.54176877
92cellular glucan metabolic process (GO:0006073)3.54176877
93negative regulation of muscle hypertrophy (GO:0014741)3.53460114
942-oxoglutarate metabolic process (GO:0006103)3.51685443
95regulation of ATPase activity (GO:0043462)3.49271525
96regulation of ATP catabolic process (GO:1903289)3.49271525
97regulation of muscle system process (GO:0090257)3.44705162
98NADH metabolic process (GO:0006734)3.44017460
99regulation of sequestering of triglyceride (GO:0010889)3.43928539
100muscle cell cellular homeostasis (GO:0046716)3.43707099
101ATP synthesis coupled proton transport (GO:0015986)3.41680618
102energy coupled proton transport, down electrochemical gradient (GO:0015985)3.41680618
103muscle cell development (GO:0055001)3.41453982
104regulation of skeletal muscle cell differentiation (GO:2001014)3.40999647
105cardiac muscle adaptation (GO:0014887)3.39372221
106cardiac muscle hypertrophy in response to stress (GO:0014898)3.39372221
107muscle hypertrophy in response to stress (GO:0003299)3.39372221
108muscle organ morphogenesis (GO:0048644)3.38927753
109bundle of His cell to Purkinje myocyte communication (GO:0086069)3.38571019
110* regulation of calcium ion transmembrane transport (GO:1903169)3.34981170
111* regulation of calcium ion transmembrane transporter activity (GO:1901019)3.34981170
112IMP metabolic process (GO:0046040)3.33609003
113striated muscle tissue development (GO:0014706)3.31706059
114regulation of muscle contraction (GO:0006937)3.31346764
115succinate metabolic process (GO:0006105)3.27426144
116membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.25747153
117regulation of myoblast differentiation (GO:0045661)3.25690677
118hexose biosynthetic process (GO:0019319)3.25478659
119ventricular cardiac muscle tissue morphogenesis (GO:0055010)3.25105310
120negative regulation of protein localization to cell surface (GO:2000009)3.23819415
121relaxation of cardiac muscle (GO:0055119)3.23446213
122positive regulation of mitochondrial calcium ion concentration (GO:0051561)3.17045166
123muscle filament sliding (GO:0030049)10.8036404
124actin-myosin filament sliding (GO:0033275)10.8036404

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human6.39062389
2PPARG_19300518_ChIP-PET_3T3-L1_Mouse6.10592735
3ESRRB_18555785_ChIP-Seq_MESCs_Mouse4.14898089
4TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse4.09580587
5EP300_21415370_ChIP-Seq_HL-1_Mouse3.79552573
6TBX20_22080862_ChIP-Seq_HEART_Mouse3.65702383
7TBX20_22328084_ChIP-Seq_HEART_Mouse3.65702383
8ESR1_20079471_ChIP-ChIP_T-47D_Human3.60931964
9MEF2A_21415370_ChIP-Seq_HL-1_Mouse2.96568470
10ZNF263_19887448_ChIP-Seq_K562_Human2.85247180
11CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.81312830
12GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.70657159
13RARG_19884340_ChIP-ChIP_MEFs_Mouse2.61136408
14CDX2_19796622_ChIP-Seq_MESCs_Mouse2.52889519
15RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.43855406
16PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.30725863
17GATA4_21415370_ChIP-Seq_HL-1_Mouse2.15015445
18BCL3_23251550_ChIP-Seq_MUSCLE_Mouse2.10081586
19EZH2_22144423_ChIP-Seq_EOC_Human1.81441459
20NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.73184952
21ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.69214273
22NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.67256508
23ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.66496703
24THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.66257992
25RBPJ_22232070_ChIP-Seq_NCS_Mouse1.65980090
26EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.55918308
27E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.55897893
28ZNF274_21170338_ChIP-Seq_K562_Hela1.55084605
29CLOCK_20551151_ChIP-Seq_293T_Human1.54962415
30TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.51019514
31TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.50726727
32* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.46616582
33IGF1R_20145208_ChIP-Seq_DFB_Human1.43247098
34CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.42657659
35ESR2_21235772_ChIP-Seq_MCF-7_Human1.41202189
36EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.40538894
37GATA1_22025678_ChIP-Seq_K562_Human1.38479224
38SUZ12_27294783_Chip-Seq_NPCs_Mouse1.37187111
39NFIB_24661679_ChIP-Seq_LUNG_Mouse1.35723441
40PCGF2_27294783_Chip-Seq_ESCs_Mouse1.35138285
41GBX2_23144817_ChIP-Seq_PC3_Human1.35122118
42PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.34113804
43CTCF_27219007_Chip-Seq_Bcells_Human1.33908571
44FLI1_27457419_Chip-Seq_LIVER_Mouse1.32367579
45PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.31930001
46ESR1_21235772_ChIP-Seq_MCF-7_Human1.29813737
47PPARA_22158963_ChIP-Seq_LIVER_Mouse1.25635226
48* EZH2_27294783_Chip-Seq_NPCs_Mouse1.20117128
49CTCF_21964334_ChIP-Seq_BJAB-B_Human1.19475873
50SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.18761848
51GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.18139177
52SMAD3_21741376_ChIP-Seq_HESCs_Human1.15308255
53* CRX_20693478_ChIP-Seq_RETINA_Mouse1.14544026
54FOXH1_21741376_ChIP-Seq_ESCs_Human1.13725261
55* SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.12554586
56RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.09234492
57TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.08204324
58NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.05911616
59OCT4_20526341_ChIP-Seq_ESCs_Human1.05208259
60* CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.04495259
61LXR_22158963_ChIP-Seq_LIVER_Mouse1.04408793
62HTT_18923047_ChIP-ChIP_STHdh_Human1.03944057
63ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.03905770
64TDRD3_21172665_ChIP-Seq_MCF-7_Human1.03828075
65AR_21572438_ChIP-Seq_LNCaP_Human1.03392706
66* OCT4_21477851_ChIP-Seq_ESCs_Mouse1.02898798
67P63_26484246_Chip-Seq_KERATINOCYTES_Human1.02631664
68AUTS2_25519132_ChIP-Seq_293T-REX_Human1.02506873
69CJUN_26792858_Chip-Seq_BT549_Human1.01684649
70KDM2B_26808549_Chip-Seq_DND41_Human1.01477305
71SMC3_22415368_ChIP-Seq_MEFs_Mouse1.01310433
72NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.99851826
73PPAR_26484153_Chip-Seq_NCI-H1993_Human0.99845200
74GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.98947744
75STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.96760319
76DROSHA_22980978_ChIP-Seq_HELA_Human0.95555294
77WT1_19549856_ChIP-ChIP_CCG9911_Human0.94949003
78KLF5_20875108_ChIP-Seq_MESCs_Mouse0.93017696
79STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.92896532
80PCGF2_27294783_Chip-Seq_NPCs_Mouse0.92702625
81RARB_27405468_Chip-Seq_BRAIN_Mouse0.92688229
82SMC1_22415368_ChIP-Seq_MEFs_Mouse0.92073842
83TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.91689518
84SMAD4_21741376_ChIP-Seq_HESCs_Human0.91535113
85EZH2_27294783_Chip-Seq_ESCs_Mouse0.91344938
86CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.90482485
87KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.90163383
88TP63_22573176_ChIP-Seq_HFKS_Human0.89782886
89YY1_22570637_ChIP-Seq_MALME-3M_Human0.89532120
90HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.89226076
91CTCF_21964334_Chip-Seq_Bcells_Human0.88420887
92PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.88135037
93RXR_22158963_ChIP-Seq_LIVER_Mouse0.87673429
94HIF1A_21447827_ChIP-Seq_MCF-7_Human0.87596458
95RACK7_27058665_Chip-Seq_MCF-7_Human0.87516056
96CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.87486503
97KDM2B_26808549_Chip-Seq_SUP-B15_Human0.86690373
98ATF3_27146783_Chip-Seq_COLON_Human0.86650796
99SPI1_20517297_ChIP-Seq_HL60_Human0.86083492
100DNAJC2_21179169_ChIP-ChIP_NT2_Human0.84823906
101P53_22127205_ChIP-Seq_FIBROBLAST_Human0.84694661
102ISL1_27105846_Chip-Seq_CPCs_Mouse0.83114054
103LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.82974568
104NR3C1_23031785_ChIP-Seq_PC12_Mouse0.82538612
105FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.82182281
106PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.82115798
107NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.81472911
108NRF2_20460467_ChIP-Seq_MEFs_Mouse0.81472911
109SA1_27219007_Chip-Seq_Bcells_Human0.80864437
110PHF8_20622853_ChIP-Seq_HELA_Human0.80320344
111NFE2_27457419_Chip-Seq_LIVER_Mouse0.80267362
112ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.80198763
113ER_23166858_ChIP-Seq_MCF-7_Human0.79806839
114GATA6_21074721_ChIP-Seq_CACO-2_Human0.78443212
115POU3F2_20337985_ChIP-ChIP_501MEL_Human0.78209453
116* NANOG_19829295_ChIP-Seq_ESCs_Human0.77914072
117* SOX2_19829295_ChIP-Seq_ESCs_Human0.77914072
118RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.77838213
119ZFP281_18757296_ChIP-ChIP_E14_Mouse0.76769185
120P68_20966046_ChIP-Seq_HELA_Human0.76469892
121AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.76303832
122GATA1_19941826_ChIP-Seq_K562_Human0.75938264
123BCAT_22108803_ChIP-Seq_LS180_Human0.75812092
124SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.75784609
125SMAD4_21799915_ChIP-Seq_A2780_Human0.75758768
126VDR_22108803_ChIP-Seq_LS180_Human0.75590368
127CBP_21632823_ChIP-Seq_H3396_Human0.75444445
128SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.74938251
129FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.74905617
130TOP2B_26459242_ChIP-Seq_MCF-7_Human0.74889831
131NANOG_20526341_ChIP-Seq_ESCs_Human0.74526225
132* SOX2_21211035_ChIP-Seq_LN229_Gbm0.74523234
133STAT3_1855785_ChIP-Seq_MESCs_Mouse0.74503361
134NFYB_21822215_ChIP-Seq_K562_Human0.73694153
135GF1_26923725_Chip-Seq_HPCs_Mouse0.73259245
136MYC_27129775_Chip-Seq_CORNEA_Mouse0.73258701
137UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.73158628
138RUNX1_27514584_Chip-Seq_MCF-7_Human0.73010609
139RAC3_21632823_ChIP-Seq_H3396_Human0.72587617
140GATA1_19941827_ChIP-Seq_MEL86_Mouse0.72488495
141* CBX2_27304074_Chip-Seq_ESCs_Mouse0.72349220
142SOX9_24532713_ChIP-Seq_HFSC_Mouse0.69891450
143CBP_20019798_ChIP-Seq_JUKART_Human0.69638031
144IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.69638031
145SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.69168575
146WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.68715537
147E2F1_20622854_ChIP-Seq_HELA_Human0.68624435
148CREB1_26743006_Chip-Seq_LNCaP_Human0.68150219

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003646_muscle_fatigue6.36788215
2MP0000751_myopathy5.70364045
3MP0000749_muscle_degeneration5.64067618
4MP0002837_dystrophic_cardiac_calcinosis5.08579039
5* MP0004145_abnormal_muscle_electrophysio4.66635847
6MP0004036_abnormal_muscle_relaxation4.51226106
7MP0004084_abnormal_cardiac_muscle4.03596662
8* MP0002106_abnormal_muscle_physiology3.60041460
9MP0000747_muscle_weakness3.53620408
10* MP0004087_abnormal_muscle_fiber3.47682204
11MP0004215_abnormal_myocardial_fiber3.36283733
12MP0004130_abnormal_muscle_cell3.29248108
13MP0005620_abnormal_muscle_contractility3.21090444
14MP0000750_abnormal_muscle_regeneration3.20837766
15MP0002269_muscular_atrophy3.20464784
16MP0005330_cardiomyopathy3.19375125
17* MP0000759_abnormal_skeletal_muscle3.07769501
18* MP0005369_muscle_phenotype2.97112607
19MP0002972_abnormal_cardiac_muscle2.45048635
20MP0004233_abnormal_muscle_weight2.40165907
21MP0004484_altered_response_of2.23240805
22MP0006036_abnormal_mitochondrial_physio2.14274667
23MP0010630_abnormal_cardiac_muscle2.09657496
24MP0003137_abnormal_impulse_conducting2.00212601
25MP0002332_abnormal_exercise_endurance1.99465577
26MP0005385_cardiovascular_system_phenoty1.92459379
27MP0001544_abnormal_cardiovascular_syste1.92459379
28MP0008775_abnormal_heart_ventricle1.92039187
29MP0003221_abnormal_cardiomyocyte_apopto1.83590759
30MP0000733_abnormal_muscle_development1.63126823
31MP0002108_abnormal_muscle_morphology1.61859845
32MP0006138_congestive_heart_failure1.48867668
33MP0005666_abnormal_adipose_tissue1.47221781
34MP0003950_abnormal_plasma_membrane1.44681349
35MP0004185_abnormal_adipocyte_glucose1.43262892
36MP0003828_pulmonary_edema1.41640802
37MP0004510_myositis1.33976934
38MP0004085_abnormal_heartbeat1.32304954
39MP0002127_abnormal_cardiovascular_syste1.27108047
40MP0001661_extended_life_span1.23293033
41MP0006035_abnormal_mitochondrial_morpho1.16335753
42MP0002971_abnormal_brown_adipose1.10613100
43MP0005375_adipose_tissue_phenotype1.02392909
44MP0005266_abnormal_metabolism1.00494285
45MP0002234_abnormal_pharynx_morphology0.99507686
46MP0003567_abnormal_fetal_cardiomyocyte0.96417524
47MP0005670_abnormal_white_adipose0.95245578
48MP0000343_altered_response_to0.93397024
49MP0000266_abnormal_heart_morphology0.92648458
50MP0003806_abnormal_nucleotide_metabolis0.90846818
51MP0000013_abnormal_adipose_tissue0.81662060
52MP0004043_abnormal_pH_regulation0.79740126
53MP0002822_catalepsy0.74687274
54MP0005165_increased_susceptibility_to0.68486653
55MP0003705_abnormal_hypodermis_morpholog0.66641468
56MP0005275_abnormal_skin_tensile0.66366840
57MP0004147_increased_porphyrin_level0.64533290
58MP0000230_abnormal_systemic_arterial0.57752537
59MP0002078_abnormal_glucose_homeostasis0.57206622
60MP0000003_abnormal_adipose_tissue0.55462374
61MP0002128_abnormal_blood_circulation0.53333399
62MP0004270_analgesia0.51457958
63MP0008961_abnormal_basal_metabolism0.50091469
64MP0005334_abnormal_fat_pad0.49193826
65MP0005451_abnormal_body_composition0.47652909
66MP0001299_abnormal_eye_distance/0.43767819
67MP0003941_abnormal_skin_development0.43559969
68MP0010030_abnormal_orbit_morphology0.43059441
69MP0005319_abnormal_enzyme/_coenzyme0.42347430
70MP0010368_abnormal_lymphatic_system0.40902863
71MP0003656_abnormal_erythrocyte_physiolo0.40494481
72MP0003566_abnormal_cell_adhesion0.40215182
73MP0003879_abnormal_hair_cell0.39285964
74MP0000762_abnormal_tongue_morphology0.38763696
75MP0003279_aneurysm0.38133652
76MP0003045_fibrosis0.37359768
77MP0001879_abnormal_lymphatic_vessel0.36509319
78MP0004142_abnormal_muscle_tone0.36246544
79MP0005584_abnormal_enzyme/coenzyme_acti0.35017607
80MP0003948_abnormal_gas_homeostasis0.34423809
81MP0005452_abnormal_adipose_tissue0.34403312
82MP0002638_abnormal_pupillary_reflex0.33634844
83MP0005167_abnormal_blood-brain_barrier0.33601151
84MP0009250_abnormal_appendicular_skeleto0.33317299
85MP0002114_abnormal_axial_skeleton0.31979642
86MP0004134_abnormal_chest_morphology0.31507224
87MP0005187_abnormal_penis_morphology0.29874558
88MP0009115_abnormal_fat_cell0.29800510
89MP0008438_abnormal_cutaneous_collagen0.29661514
90MP0000372_irregular_coat_pigmentation0.28979889
91MP0005535_abnormal_body_temperature0.28872302
92MP0002909_abnormal_adrenal_gland0.28381556
93MP0002925_abnormal_cardiovascular_devel0.27677414
94MP0005503_abnormal_tendon_morphology0.26758043
95MP0005623_abnormal_meninges_morphology0.25503647
96MP0001984_abnormal_olfaction0.24750910
97MP0003195_calcinosis0.24646267
98MP0005083_abnormal_biliary_tract0.24423075
99MP0000767_abnormal_smooth_muscle0.24351303
100MP0008569_lethality_at_weaning0.24031003
101MP0002896_abnormal_bone_mineralization0.23974579
102MP0001784_abnormal_fluid_regulation0.23821634
103MP0005332_abnormal_amino_acid0.23202754
104MP0002118_abnormal_lipid_homeostasis0.23106774
105MP0002734_abnormal_mechanical_nocicepti0.22526649
106MP0000579_abnormal_nail_morphology0.22016752
107MP0009780_abnormal_chondrocyte_physiolo0.22010014
108MP0003959_abnormal_lean_body0.21969997
109MP0009672_abnormal_birth_weight0.21424225
110MP0005376_homeostasis/metabolism_phenot0.21402644
111MP0001614_abnormal_blood_vessel0.20988528
112MP0005423_abnormal_somatic_nervous0.20194316
113MP0005166_decreased_susceptibility_to0.19929123
114MP0001943_abnormal_respiration0.18282227
115MP0001853_heart_inflammation0.18266568
116MP0004197_abnormal_fetal_growth/weight/0.17289743
117MP0001346_abnormal_lacrimal_gland0.15075660
118* MP0002066_abnormal_motor_capabilities/c0.14972590
119MP0006276_abnormal_autonomic_nervous0.14845802
120MP0008770_decreased_survivor_rate0.13976337

Predicted human phenotypes

RankGene SetZ-score
1Exercise-induced myalgia (HP:0003738)8.24033319
2Muscle fiber inclusion bodies (HP:0100299)7.90044140
3Exercise-induced muscle cramps (HP:0003710)7.81828588
4Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)7.61197885
5Muscle hypertrophy of the lower extremities (HP:0008968)7.01871844
6Nemaline bodies (HP:0003798)7.00043511
7Calf muscle hypertrophy (HP:0008981)6.74731586
8Type 1 muscle fiber predominance (HP:0003803)6.01724665
9Muscle fiber splitting (HP:0003555)5.74966497
10Myoglobinuria (HP:0002913)5.61573423
11Distal arthrogryposis (HP:0005684)5.46876037
12Hyporeflexia of lower limbs (HP:0002600)5.25389058
13Sudden death (HP:0001699)5.20606694
14Difficulty running (HP:0009046)5.01536801
15Abnormality of the calf musculature (HP:0001430)4.96722466
16Myopathic facies (HP:0002058)4.91479013
17EMG: myopathic abnormalities (HP:0003458)4.78110580
18Round ear (HP:0100830)4.65460314
19Rhabdomyolysis (HP:0003201)4.59432071
20Abnormality of the left ventricular outflow tract (HP:0011103)4.42774443
21Subaortic stenosis (HP:0001682)4.42774443
22Ulnar deviation of the wrist (HP:0003049)4.38314928
23Increased connective tissue (HP:0009025)4.34423820
24Ventricular tachycardia (HP:0004756)4.26225700
25Muscle stiffness (HP:0003552)4.20417686
26Myotonia (HP:0002486)3.98704323
27Calcaneovalgus deformity (HP:0001848)3.69466739
28Asymmetric septal hypertrophy (HP:0001670)3.60870243
29Absent phalangeal crease (HP:0006109)3.50770718
30Abnormality of skeletal muscle fiber size (HP:0012084)3.42420963
31Deformed tarsal bones (HP:0008119)3.38937160
32Neck muscle weakness (HP:0000467)3.35994345
33Difficulty climbing stairs (HP:0003551)3.32339627
34Lipoatrophy (HP:0100578)3.31632986
35Atrial fibrillation (HP:0005110)3.25118589
36Rimmed vacuoles (HP:0003805)3.24074496
37Increased variability in muscle fiber diameter (HP:0003557)3.22527872
38Areflexia of lower limbs (HP:0002522)3.16461100
39Primary atrial arrhythmia (HP:0001692)3.02690020
40Supraventricular tachycardia (HP:0004755)2.91759785
41Right ventricular cardiomyopathy (HP:0011663)2.91264175
42Dilated cardiomyopathy (HP:0001644)2.90603241
43Abnormal finger flexion creases (HP:0006143)2.88746681
44Supraventricular arrhythmia (HP:0005115)2.84856139
45Bundle branch block (HP:0011710)2.80002772
46Distal lower limb muscle weakness (HP:0009053)2.76465721
47Frequent falls (HP:0002359)2.63650761
48Malignant hyperthermia (HP:0002047)2.60629357
49Palpitations (HP:0001962)2.58956980
50Fetal akinesia sequence (HP:0001989)2.54088332
51Syncope (HP:0001279)2.50806483
52Ventricular arrhythmia (HP:0004308)2.45875462
53Hypoplastic ischia (HP:0003175)2.45723886
54EMG: neuropathic changes (HP:0003445)2.41606426
55Prolonged QT interval (HP:0001657)2.40753728
56Muscular dystrophy (HP:0003560)2.38713251
57Abnormality of the hip-girdle musculature (HP:0001445)2.34746272
58Abnormality of the musculature of the pelvis (HP:0001469)2.34746272
59Heart block (HP:0012722)2.32916484
60Generalized muscle weakness (HP:0003324)2.31807883
61Hyperkalemia (HP:0002153)2.30355255
62Pelvic girdle muscle weakness (HP:0003749)2.30342338
63Hip contracture (HP:0003273)2.29437145
64Shoulder girdle muscle weakness (HP:0003547)2.29157547
65Limb-girdle muscle atrophy (HP:0003797)2.24361066
66Facial diplegia (HP:0001349)2.22351825
67Abnormal atrioventricular conduction (HP:0005150)2.20058067
68Mildly elevated creatine phosphokinase (HP:0008180)2.19885638
69Gowers sign (HP:0003391)2.19443946
70Abnormal mitochondria in muscle tissue (HP:0008316)2.15991781
71Abnormality of the ischium (HP:0003174)2.14386989
72Abnormality of the foot musculature (HP:0001436)2.13778039
73Fatigable weakness (HP:0003473)2.13463326
74Abnormality of the neuromuscular junction (HP:0003398)2.13463326
75Proximal amyotrophy (HP:0007126)2.13350008
76Acute necrotizing encephalopathy (HP:0006965)2.11972008
77Abnormality of the calcaneus (HP:0008364)2.11026072
78Limb-girdle muscle weakness (HP:0003325)2.07584578
79Scapular winging (HP:0003691)2.07312598
80Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.04685253
81Progressive muscle weakness (HP:0003323)2.03122637
82Exercise intolerance (HP:0003546)2.02169475
83Centrally nucleated skeletal muscle fibers (HP:0003687)2.01236186
84Waddling gait (HP:0002515)2.00273607
85Distal lower limb amyotrophy (HP:0008944)1.98100738
86Foot dorsiflexor weakness (HP:0009027)1.95615741
87Hepatic necrosis (HP:0002605)1.93903786
88Atrioventricular block (HP:0001678)1.93556250
89Spinal rigidity (HP:0003306)1.93446470
90Bulbar palsy (HP:0001283)1.91080008
91Left ventricular hypertrophy (HP:0001712)1.90722660
92Lower limb amyotrophy (HP:0007210)1.90120925
93Abnormality of the shoulder girdle musculature (HP:0001435)1.86365792
94Slender build (HP:0001533)1.85731329
95Respiratory insufficiency due to muscle weakness (HP:0002747)1.84896003
96Ragged-red muscle fibers (HP:0003200)1.82684777
97Paralysis (HP:0003470)1.82618760
98Ventricular fibrillation (HP:0001663)1.82275990
99Acute encephalopathy (HP:0006846)1.81305541
100Weak cry (HP:0001612)1.79819217
101Abnormal EKG (HP:0003115)1.78161429
102Ketoacidosis (HP:0001993)1.76821989
103Progressive macrocephaly (HP:0004481)1.76764841
104Increased muscle lipid content (HP:0009058)1.74009485
105Long clavicles (HP:0000890)1.72138952
106Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.71557934
107Abnormality of alanine metabolism (HP:0010916)1.71557934
108Hyperalaninemia (HP:0003348)1.71557934
109Hepatocellular necrosis (HP:0001404)1.70166744
110Metatarsus adductus (HP:0001840)1.66319182
111Popliteal pterygium (HP:0009756)1.64603027
112Oligomenorrhea (HP:0000876)1.64031044
113Nonprogressive disorder (HP:0003680)1.62352206
114Ulnar deviation of finger (HP:0009465)1.61878730
115Type 2 muscle fiber atrophy (HP:0003554)1.56737228
116Limited hip movement (HP:0008800)1.56032111
117Steppage gait (HP:0003376)1.51125978
118Increased intramyocellular lipid droplets (HP:0012240)1.45641722

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN7.83938882
2TTN6.36752180
3PHKG15.15094147
4PHKG25.15094147
5PDK32.89090287
6PDK42.89090287
7NME12.86711909
8PIK3CG2.51121922
9NEK12.47223880
10DMPK2.43423796
11PINK12.24861156
12MAP2K32.16757025
13TRIB32.14212030
14PIK3CA2.06128814
15BCKDK2.04763703
16STK241.85247054
17MUSK1.84295486
18PDK21.83165894
19MAP3K71.80117362
20PKN21.74927261
21MYLK1.59174643
22MAPK121.43355803
23LMTK21.33028035
24ZAK1.16861223
25MAP2K41.08662307
26TIE11.03168259
27PRKAA20.98291615
28EEF2K0.96434252
29MARK10.95586949
30ILK0.94593102
31TRPM70.92922646
32PRKAA10.90868324
33MAP2K60.89878327
34CCNB10.88039264
35NEK90.82207891
36GRK70.81042866
37MAP3K30.80526646
38MAPKAPK30.75822566
39MOS0.74210602
40CAMK2D0.66751386
41PRKD10.63910669
42INSRR0.62090395
43MAP3K50.57476185
44AKT20.55150542
45ROCK10.54812437
46PAK30.54055541
47DYRK1B0.53625280
48CAMK2G0.53214104
49PKN10.52094666
50STK38L0.51788973
51RIPK10.50767399
52TAOK20.49465334
53FLT30.45498741
54LIMK10.43587581
55MAPK110.43571074
56CAMK2B0.40441606
57EPHB10.39197076
58MAP3K130.38758607
59PRKACB0.37766308
60WNK10.34501469
61ERBB30.33666887
62CAMK40.32833720
63SGK20.32645874
64PRKACA0.31301367
65MAP3K110.30888891
66CDC42BPA0.30310112
67NLK0.29849050
68WNK40.28926297
69SGK10.28068749
70SIK10.27662157
71TGFBR20.27545824
72TNIK0.27537683
73PTK60.27420689
74PRKG10.26358791
75CAMK2A0.25914890
76PDPK10.25781990
77PDGFRA0.24766046
78TAOK10.24059545
79PDK10.23749433
80ROCK20.22970081
81MAPK100.22015495
82CAMK10.21830422
83MAPK70.21171054
84PRKACG0.20980873
85MAPK130.20958035
86RPS6KA30.20621222
87MAP3K60.20448216
88TBK10.20016437
89RPS6KB10.19977280
90STK380.18977162
91RPS6KA10.17049494
92PTK2B0.16976382
93LATS10.16920457
94RPS6KB20.16918212
95NME20.16629660
96STK40.15505055
97MAP3K10.15078115
98DAPK30.14601483
99STK110.12543010
100MAP2K10.12095854
101LATS20.11932334
102FER0.11581425
103MARK30.11411792
104SGK2230.10708517
105SGK4940.10708517
106MARK20.10519114
107STK390.10487890
108MAP3K100.10093797
109FGFR10.09218254
110RAF10.09192017
111MAPK40.09131482
112SGK30.08888030
113RPS6KC10.08772588
114RPS6KL10.08772588
115MTOR0.06928928
116KDR0.06762252
117BMPR1B0.05647756
118KSR20.05462828
119DAPK20.04912935
120EPHA30.04822659
121PRKCH0.04447977
122PRKDC0.04293183
123ICK0.04189050
124RET0.04097223
125RPS6KA60.03872522
126PRKG20.03012940
127GSK3B0.02762116

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000205.47526794
2Cardiac muscle contraction_Homo sapiens_hsa042604.27300350
3Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054104.03446118
42-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.84870606
5Dilated cardiomyopathy_Homo sapiens_hsa054143.66999460
6Propanoate metabolism_Homo sapiens_hsa006403.15511601
7Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054123.15363436
8Parkinsons disease_Homo sapiens_hsa050122.93581368
9Oxidative phosphorylation_Homo sapiens_hsa001902.75378019
10Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.61200005
11Carbon metabolism_Homo sapiens_hsa012002.46377627
12Fatty acid degradation_Homo sapiens_hsa000712.37034132
13Alzheimers disease_Homo sapiens_hsa050102.30845817
14Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.16279391
15Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.09778160
16Starch and sucrose metabolism_Homo sapiens_hsa005001.93769405
17Fatty acid metabolism_Homo sapiens_hsa012121.84281981
18Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.76903910
19Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.70053411
20Pyruvate metabolism_Homo sapiens_hsa006201.69750364
21Huntingtons disease_Homo sapiens_hsa050161.69564990
22Glucagon signaling pathway_Homo sapiens_hsa049221.64688063
23Viral myocarditis_Homo sapiens_hsa054161.55972090
24Insulin resistance_Homo sapiens_hsa049311.55120615
25Insulin signaling pathway_Homo sapiens_hsa049101.52432670
26Oxytocin signaling pathway_Homo sapiens_hsa049211.38995448
27Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.33188033
28Adipocytokine signaling pathway_Homo sapiens_hsa049201.31725598
29Circadian rhythm_Homo sapiens_hsa047101.30375016
30Biosynthesis of amino acids_Homo sapiens_hsa012301.27331183
31Calcium signaling pathway_Homo sapiens_hsa040201.20403719
32AMPK signaling pathway_Homo sapiens_hsa041521.14341905
33cGMP-PKG signaling pathway_Homo sapiens_hsa040221.13914176
34Galactose metabolism_Homo sapiens_hsa000521.12446783
35Fatty acid elongation_Homo sapiens_hsa000621.07862632
36Butanoate metabolism_Homo sapiens_hsa006500.99386416
37Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.98022089
38Fructose and mannose metabolism_Homo sapiens_hsa000510.92843457
39Tight junction_Homo sapiens_hsa045300.90135740
40Arginine and proline metabolism_Homo sapiens_hsa003300.86700464
41Nitrogen metabolism_Homo sapiens_hsa009100.86512485
42Focal adhesion_Homo sapiens_hsa045100.83540510
43Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.83089175
44Vascular smooth muscle contraction_Homo sapiens_hsa042700.82230167
45PPAR signaling pathway_Homo sapiens_hsa033200.80688562
46Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.78789163
47HIF-1 signaling pathway_Homo sapiens_hsa040660.77967913
48beta-Alanine metabolism_Homo sapiens_hsa004100.70669502
49Central carbon metabolism in cancer_Homo sapiens_hsa052300.70619829
50Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.67562570
51Arginine biosynthesis_Homo sapiens_hsa002200.62011185
52Longevity regulating pathway - mammal_Homo sapiens_hsa042110.58853911
53Gastric acid secretion_Homo sapiens_hsa049710.57628756
54Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.56209001
55Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.52420133
56Renin secretion_Homo sapiens_hsa049240.49060471
57Tryptophan metabolism_Homo sapiens_hsa003800.47981939
58Type II diabetes mellitus_Homo sapiens_hsa049300.47780597
59FoxO signaling pathway_Homo sapiens_hsa040680.47644354
60Fatty acid biosynthesis_Homo sapiens_hsa000610.46138576
61Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.44798710
62GnRH signaling pathway_Homo sapiens_hsa049120.43380323
63Pentose phosphate pathway_Homo sapiens_hsa000300.42251437
64Lysine degradation_Homo sapiens_hsa003100.41562768
65Adherens junction_Homo sapiens_hsa045200.39788969
66mTOR signaling pathway_Homo sapiens_hsa041500.39362789
67Phenylalanine metabolism_Homo sapiens_hsa003600.36545981
68Salivary secretion_Homo sapiens_hsa049700.35316431
69Insulin secretion_Homo sapiens_hsa049110.35040410
70Peroxisome_Homo sapiens_hsa041460.34642582
71Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.33673071
72Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.32817280
73Leukocyte transendothelial migration_Homo sapiens_hsa046700.31390787
74Regulation of actin cytoskeleton_Homo sapiens_hsa048100.31058596
75VEGF signaling pathway_Homo sapiens_hsa043700.30997991
76Platelet activation_Homo sapiens_hsa046110.28870983
77Amoebiasis_Homo sapiens_hsa051460.27766056
78MAPK signaling pathway_Homo sapiens_hsa040100.27080550
79Purine metabolism_Homo sapiens_hsa002300.24730167
80Proteoglycans in cancer_Homo sapiens_hsa052050.24538591
81Histidine metabolism_Homo sapiens_hsa003400.24118976
82ECM-receptor interaction_Homo sapiens_hsa045120.23021659
83Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.22642729
84cAMP signaling pathway_Homo sapiens_hsa040240.22158426
85Long-term depression_Homo sapiens_hsa047300.21738776
86Thyroid hormone signaling pathway_Homo sapiens_hsa049190.21662100
87Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.21531903
88Metabolic pathways_Homo sapiens_hsa011000.21483560
89Amphetamine addiction_Homo sapiens_hsa050310.20939189
90Renal cell carcinoma_Homo sapiens_hsa052110.20638785
91Oocyte meiosis_Homo sapiens_hsa041140.19669022
92Olfactory transduction_Homo sapiens_hsa047400.18290282
93Aldosterone synthesis and secretion_Homo sapiens_hsa049250.17579754
94Ovarian steroidogenesis_Homo sapiens_hsa049130.16618390
95Circadian entrainment_Homo sapiens_hsa047130.12494936
96Phototransduction_Homo sapiens_hsa047440.10917794
97Tyrosine metabolism_Homo sapiens_hsa003500.09406908
98Glioma_Homo sapiens_hsa052140.08952588
99Cholinergic synapse_Homo sapiens_hsa047250.08145218
100Fat digestion and absorption_Homo sapiens_hsa049750.06855614
101Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.06710019
102AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.06646232
103Cysteine and methionine metabolism_Homo sapiens_hsa002700.05711286
104Glycerolipid metabolism_Homo sapiens_hsa005610.05344667
105Pancreatic secretion_Homo sapiens_hsa049720.05014698
106Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.00309169
107Glycerophospholipid metabolism_Homo sapiens_hsa00564-0.0716053
108Regulation of autophagy_Homo sapiens_hsa04140-0.0711202
109Long-term potentiation_Homo sapiens_hsa04720-0.0709535
110Bile secretion_Homo sapiens_hsa04976-0.0601998
111Melanogenesis_Homo sapiens_hsa04916-0.0392551
112Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040-0.0335936
113Dorso-ventral axis formation_Homo sapiens_hsa04320-0.0206930
114Gap junction_Homo sapiens_hsa04540-0.0091011
115Sulfur metabolism_Homo sapiens_hsa00920-0.0026869
116Toxoplasmosis_Homo sapiens_hsa05145-0.0022428

Most similar genes based on co-expression Upload to Enrichr

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