STAC3

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: The protein encoded by this gene is a component of the excitation-contraction coupling machinery of muscles. This protein is a member of the Stac gene family and contains an N-terminal cysteine-rich domain and two SH3 domains. Mutations in this gene are a cause of Native American myopathy. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1skeletal muscle adaptation (GO:0043501)9.80189806
2plasma membrane repair (GO:0001778)8.09239981
3actin filament-based movement (GO:0030048)8.06922233
4* skeletal muscle fiber development (GO:0048741)7.38596468
5response to stimulus involved in regulation of muscle adaptation (GO:0014874)7.03545720
6positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)6.92742768
7sarcomere organization (GO:0045214)6.62828473
8response to inactivity (GO:0014854)6.43989992
9* striated muscle contraction (GO:0006941)6.42956465
10striated muscle atrophy (GO:0014891)6.41293239
11glycogen catabolic process (GO:0005980)6.39328397
12skeletal muscle tissue regeneration (GO:0043403)6.36211521
13* myotube cell development (GO:0014904)6.22514124
14creatine metabolic process (GO:0006600)6.18501088
15purine nucleotide salvage (GO:0032261)6.02127035
16glucan catabolic process (GO:0009251)5.98531970
17response to muscle activity (GO:0014850)5.93214049
18pyrimidine ribonucleoside catabolic process (GO:0046133)5.93127481
19regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.78827309
20myofibril assembly (GO:0030239)5.78130993
21carnitine shuttle (GO:0006853)5.70952651
22* muscle contraction (GO:0006936)5.62210086
23cellular polysaccharide catabolic process (GO:0044247)5.57311404
24muscle atrophy (GO:0014889)5.56849720
25striated muscle adaptation (GO:0014888)5.51898552
26regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)5.49273288
27regulation of cell communication by electrical coupling (GO:0010649)5.44909580
28cytidine deamination (GO:0009972)5.44766699
29cytidine metabolic process (GO:0046087)5.44766699
30cytidine catabolic process (GO:0006216)5.44766699
31polysaccharide catabolic process (GO:0000272)5.28943452
32IMP metabolic process (GO:0046040)5.04405959
33* muscle system process (GO:0003012)5.00920198
34glycogen biosynthetic process (GO:0005978)4.98881269
35glucan biosynthetic process (GO:0009250)4.98881269
36fatty acid transmembrane transport (GO:1902001)4.78940784
37actomyosin structure organization (GO:0031032)4.71022249
38negative regulation of potassium ion transmembrane transporter activity (GO:1901017)4.66822460
39* muscle fiber development (GO:0048747)4.57720437
40regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)4.57468258
41fructose metabolic process (GO:0006000)4.51048569
42NADH metabolic process (GO:0006734)4.50040953
43muscle adaptation (GO:0043500)4.46651497
44positive regulation of mitochondrial calcium ion concentration (GO:0051561)4.46471465
45regulation of actin filament-based movement (GO:1903115)4.43687129
46cardiac muscle hypertrophy (GO:0003300)4.39547224
47glycogen metabolic process (GO:0005977)4.33235811
48positive regulation of myotube differentiation (GO:0010831)4.32416606
49regulation of skeletal muscle cell differentiation (GO:2001014)4.31911334
50glucan metabolic process (GO:0044042)4.24531407
51cellular glucan metabolic process (GO:0006073)4.24531407
52muscle cell cellular homeostasis (GO:0046716)4.23706241
53carnitine transmembrane transport (GO:1902603)4.21498802
54striated muscle hypertrophy (GO:0014897)4.18702832
55muscle organ development (GO:0007517)4.18693332
56myotube differentiation (GO:0014902)4.17265301
57regulation of acyl-CoA biosynthetic process (GO:0050812)4.15279886
58neuronal action potential propagation (GO:0019227)4.13951001
59muscle structure development (GO:0061061)4.11997722
60negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)4.06086628
61skeletal muscle tissue development (GO:0007519)4.03645455
62muscle organ morphogenesis (GO:0048644)4.00568328
63response to activity (GO:0014823)3.99894853
642-oxoglutarate metabolic process (GO:0006103)3.93218925
65IMP biosynthetic process (GO:0006188)3.92099006
66muscle cell fate commitment (GO:0042693)3.90070884
67myoblast fusion (GO:0007520)3.89498311
68regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.86881008
69amino-acid betaine transport (GO:0015838)3.83897943
70carnitine transport (GO:0015879)3.83897943
71gluconeogenesis (GO:0006094)3.82955285
72muscle hypertrophy (GO:0014896)3.82819191
73cardiac muscle contraction (GO:0060048)3.80856366
74regulation of coenzyme metabolic process (GO:0051196)3.76738365
75regulation of cofactor metabolic process (GO:0051193)3.76738365
76positive regulation of myoblast differentiation (GO:0045663)3.74710942
77negative regulation of skeletal muscle tissue development (GO:0048642)3.73611755
78negative regulation of muscle hypertrophy (GO:0014741)3.67988984
79regulation of relaxation of muscle (GO:1901077)3.67261162
80regulation of myotube differentiation (GO:0010830)3.66225324
81AMP metabolic process (GO:0046033)3.64605979
82muscle tissue morphogenesis (GO:0060415)3.64197077
83negative regulation of potassium ion transmembrane transport (GO:1901380)3.59658493
84syncytium formation (GO:0006949)3.53315411
85negative regulation of muscle contraction (GO:0045932)3.52694587
86cellular response to dexamethasone stimulus (GO:0071549)3.52467313
87striated muscle tissue development (GO:0014706)3.51546638
88syncytium formation by plasma membrane fusion (GO:0000768)3.50546213
89cellular carbohydrate catabolic process (GO:0044275)3.50432472
90adult heart development (GO:0007512)3.47224703
91hexose biosynthetic process (GO:0019319)3.46071424
92regulation of calcium ion transmembrane transporter activity (GO:1901019)3.45888403
93regulation of calcium ion transmembrane transport (GO:1903169)3.45888403
94regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.42501499
95* striated muscle cell development (GO:0055002)3.42448894
96neuromuscular junction development (GO:0007528)3.40016299
97tricarboxylic acid cycle (GO:0006099)3.38733919
98regulation of skeletal muscle fiber development (GO:0048742)3.38303109
99cardiac muscle tissue morphogenesis (GO:0055008)3.36802694
100regulation of myoblast differentiation (GO:0045661)3.34120493
101negative regulation of calcium ion transmembrane transport (GO:1903170)3.31398696
102negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.31398696
103cardiac muscle hypertrophy in response to stress (GO:0014898)3.30864351
104muscle hypertrophy in response to stress (GO:0003299)3.30864351
105cardiac muscle adaptation (GO:0014887)3.30864351
106response to dexamethasone (GO:0071548)3.29253746
107regulation of striated muscle contraction (GO:0006942)3.23674545
108cardiac muscle cell development (GO:0055013)3.18708526
109negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.17782239
110negative regulation of necroptotic process (GO:0060546)3.16737151
111regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.15573478
112cardiac myofibril assembly (GO:0055003)3.15455725
113skeletal muscle cell differentiation (GO:0035914)3.15311822
114positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.14579369
115* muscle cell development (GO:0055001)3.12309637
116regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.10650567
117negative regulation of cAMP-mediated signaling (GO:0043951)3.08904371
118regulation of sulfur metabolic process (GO:0042762)3.04970112
119cellular polysaccharide metabolic process (GO:0044264)3.03270899
120heart contraction (GO:0060047)2.97986536
121heart process (GO:0003015)2.97986536
122cellular polysaccharide biosynthetic process (GO:0033692)2.95803558
123muscle filament sliding (GO:0030049)13.1135077
124actin-myosin filament sliding (GO:0033275)13.1135077
125regulation of skeletal muscle contraction (GO:0014819)12.2862074
126* skeletal muscle contraction (GO:0003009)10.7278154
127actin-mediated cell contraction (GO:0070252)10.7240668
128sarcoplasmic reticulum calcium ion transport (GO:0070296)10.4280501

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human8.41718165
2PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.90573438
3ESR1_20079471_ChIP-ChIP_T-47D_Human3.66833588
4TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.12519055
5TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.10386042
6RARG_19884340_ChIP-ChIP_MEFs_Mouse2.59495891
7ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.58081314
8TBX20_22080862_ChIP-Seq_HEART_Mouse2.48129768
9TBX20_22328084_ChIP-Seq_HEART_Mouse2.48129768
10RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.46215350
11BCL3_23251550_ChIP-Seq_MUSCLE_Mouse2.35241578
12PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.28135160
13THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.19282253
14ZNF263_19887448_ChIP-Seq_K562_Human2.17828318
15CDX2_19796622_ChIP-Seq_MESCs_Mouse2.08464442
16ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.96542117
17MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.91871873
18CTCF_21964334_ChIP-Seq_BJAB-B_Human1.91304727
19ESR1_21235772_ChIP-Seq_MCF-7_Human1.77729116
20AR_21572438_ChIP-Seq_LNCaP_Human1.68853915
21CTCF_27219007_Chip-Seq_Bcells_Human1.68275987
22CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.64556482
23NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.63141314
24KDM2B_26808549_Chip-Seq_DND41_Human1.61006782
25BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.58611402
26TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.58224941
27ZNF274_21170338_ChIP-Seq_K562_Hela1.57607337
28ESR2_21235772_ChIP-Seq_MCF-7_Human1.57450980
29TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.56719260
30ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.53819182
31PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.50118992
32CLOCK_20551151_ChIP-Seq_293T_Human1.49790339
33SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.48313993
34SA1_27219007_Chip-Seq_Bcells_Human1.43513303
35NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.40117705
36PPARA_22158963_ChIP-Seq_LIVER_Mouse1.37188624
37EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.36612202
38RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.36530735
39LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.35794224
40ZFP281_18757296_ChIP-ChIP_E14_Mouse1.34314188
41CTCF_21964334_Chip-Seq_Bcells_Human1.32483314
42TCF7_22412390_ChIP-Seq_EML_Mouse1.32100378
43FOXH1_21741376_ChIP-Seq_ESCs_Human1.29891467
44CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.29885623
45EP300_21415370_ChIP-Seq_HL-1_Mouse1.29763347
46LXR_22292898_ChIP-Seq_THP-1_Human1.27641310
47P63_26484246_Chip-Seq_KERATINOCYTES_Human1.26112264
48* DNAJC2_21179169_ChIP-ChIP_NT2_Human1.25969324
49GATA1_19941827_ChIP-Seq_MEL_Mouse1.25656065
50DROSHA_22980978_ChIP-Seq_HELA_Human1.23555127
51SMC1_22415368_ChIP-Seq_MEFs_Mouse1.23441998
52KDM2B_26808549_Chip-Seq_SUP-B15_Human1.23038777
53LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.22084996
54CTCF_27219007_Chip-Seq_ERYTHROID_Human1.21765286
55CREB1_26743006_Chip-Seq_LNCaP_Human1.20104992
56UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.17490410
57OCT4_20526341_ChIP-Seq_ESCs_Human1.16353167
58GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.16287034
59STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.16257486
60RACK7_27058665_Chip-Seq_MCF-7_Human1.15866403
61TDRD3_21172665_ChIP-Seq_MCF-7_Human1.14806555
62SMC3_22415368_ChIP-Seq_MEFs_Mouse1.13739343
63NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.12446685
64STAT1_20625510_ChIP-Seq_HELA_Human1.11647542
65MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.10855116
66TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.10519527
67CBP_20019798_ChIP-Seq_JUKART_Human1.10441524
68IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.10441524
69RXR_22158963_ChIP-Seq_LIVER_Mouse1.08824523
70VDR_21846776_ChIP-Seq_THP-1_Human1.08180924
71GATA4_21415370_ChIP-Seq_HL-1_Mouse1.07860292
72P300_27058665_Chip-Seq_ZR-75-30cells_Human1.07228498
73P68_20966046_ChIP-Seq_HELA_Human1.07126749
74E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.06430777
75MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.06373433
76YY1_22570637_ChIP-Seq_MALME-3M_Human1.06259463
77* WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.04992617
78SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.03939790
79ERG_21242973_ChIP-ChIP_JURKAT_Human1.03343494
80NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.03221872
81SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.02274581
82EZH2_27294783_Chip-Seq_ESCs_Mouse1.02251363
83ELF1_20517297_ChIP-Seq_JURKAT_Human1.01996838
84KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.01916152
85KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.01272144
86RAC3_21632823_ChIP-Seq_H3396_Human1.00341315
87ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.00272839
88TP53_20018659_ChIP-ChIP_R1E_Mouse1.00262166
89FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.99865691
90CTCF_26484167_Chip-Seq_Bcells_Mouse0.99791921
91ATF3_27146783_Chip-Seq_COLON_Human0.99471711
92KDM2B_26808549_Chip-Seq_K562_Human0.97649868
93LXR_22158963_ChIP-Seq_LIVER_Mouse0.96630536
94NFIB_24661679_ChIP-Seq_LUNG_Mouse0.96249706
95SA1_27219007_Chip-Seq_ERYTHROID_Human0.96228559
96ELK3_25401928_ChIP-Seq_HUVEC_Human0.95691539
97ESR1_15608294_ChIP-ChIP_MCF-7_Human0.95047609
98RAD21_21589869_ChIP-Seq_MESCs_Mouse0.93425507
99KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.93006246
100RARB_27405468_Chip-Seq_BRAIN_Mouse0.92702134
101FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.92521959
102MAF_26560356_Chip-Seq_TH1_Human0.92311353
103STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.92297351
104STAT6_21828071_ChIP-Seq_BEAS2B_Human0.92083648
105* MYC_27129775_Chip-Seq_CORNEA_Mouse0.91799334
106E2F1_20622854_ChIP-Seq_HELA_Human0.91776100
107* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.91171106
108EZH2_22144423_ChIP-Seq_EOC_Human0.90919793
109ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.89677606
110SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.89020917
111CEBPB_22108803_ChIP-Seq_LS180_Human0.88641386
112BCL6_27268052_Chip-Seq_Bcells_Human0.88606523
113NANOG_20526341_ChIP-Seq_ESCs_Human0.88438862
114GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.88341754
115VDR_24787735_ChIP-Seq_THP-1_Human0.87652341
116KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.87482168
117EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.87081080
118KLF4_19829295_ChIP-Seq_ESCs_Human0.86289646
119P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.86210173
120SPI1_20517297_ChIP-Seq_HL60_Human0.85999384
121STAT3_1855785_ChIP-Seq_MESCs_Mouse0.84430854
122GATA1_19941827_ChIP-Seq_MEL86_Mouse0.83064794
123SPI1_23127762_ChIP-Seq_K562_Human0.82771241
124SMC4_20622854_ChIP-Seq_HELA_Human0.82188410
125SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.79984078
126PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.79328701
127EGR1_19032775_ChIP-ChIP_M12_Human0.76671014
128* PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.76525072
129DPY_21335234_ChIP-Seq_ESCs_Mouse0.75597076
130OCT4_19829295_ChIP-Seq_ESCs_Human0.74392315

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004145_abnormal_muscle_electrophysio8.09648493
2MP0000749_muscle_degeneration6.52720223
3MP0003646_muscle_fatigue6.13217778
4MP0000751_myopathy5.82083920
5MP0000747_muscle_weakness4.62035593
6MP0002106_abnormal_muscle_physiology4.30891900
7MP0000759_abnormal_skeletal_muscle3.93937855
8MP0004036_abnormal_muscle_relaxation3.90319941
9MP0005451_abnormal_body_composition3.85080757
10MP0002269_muscular_atrophy3.63364831
11MP0005369_muscle_phenotype3.58901178
12MP0000750_abnormal_muscle_regeneration3.50172127
13MP0004087_abnormal_muscle_fiber3.47458256
14MP0002837_dystrophic_cardiac_calcinosis3.32919998
15MP0004130_abnormal_muscle_cell3.12075505
16MP0005620_abnormal_muscle_contractility3.05473451
17MP0000733_abnormal_muscle_development2.86856840
18MP0004233_abnormal_muscle_weight2.75069274
19MP0002108_abnormal_muscle_morphology2.14810317
20MP0002332_abnormal_exercise_endurance2.11934818
21MP0005330_cardiomyopathy1.81460483
22MP0004270_analgesia1.75936269
23MP0006036_abnormal_mitochondrial_physio1.73214635
24MP0004185_abnormal_adipocyte_glucose1.62747533
25MP0004084_abnormal_cardiac_muscle1.59921253
26MP0002971_abnormal_brown_adipose1.53960238
27MP0005666_abnormal_adipose_tissue1.33218683
28MP0004215_abnormal_myocardial_fiber1.27278828
29MP0002972_abnormal_cardiac_muscle1.21079872
30MP0004484_altered_response_of1.20675946
31MP0010630_abnormal_cardiac_muscle1.19200641
32MP0000013_abnormal_adipose_tissue1.18634272
33MP0003806_abnormal_nucleotide_metabolis1.12984834
34MP0003221_abnormal_cardiomyocyte_apopto1.12768117
35MP0005375_adipose_tissue_phenotype1.05245592
36MP0005266_abnormal_metabolism1.02106298
37MP0003950_abnormal_plasma_membrane1.01109187
38MP0004134_abnormal_chest_morphology0.98195028
39MP0001661_extended_life_span0.95880644
40MP0006035_abnormal_mitochondrial_morpho0.93382970
41MP0003705_abnormal_hypodermis_morpholog0.91346980
42MP0002822_catalepsy0.87245873
43MP0002234_abnormal_pharynx_morphology0.83002824
44MP0008961_abnormal_basal_metabolism0.82104335
45MP0001544_abnormal_cardiovascular_syste0.80560555
46MP0005385_cardiovascular_system_phenoty0.80560555
47MP0001299_abnormal_eye_distance/0.78271261
48MP0003656_abnormal_erythrocyte_physiolo0.75079123
49MP0003137_abnormal_impulse_conducting0.72511986
50MP0003879_abnormal_hair_cell0.71202703
51MP0009250_abnormal_appendicular_skeleto0.70082522
52MP0000003_abnormal_adipose_tissue0.65178431
53MP0000372_irregular_coat_pigmentation0.60321230
54MP0004147_increased_porphyrin_level0.60313822
55MP0002078_abnormal_glucose_homeostasis0.58600755
56MP0005334_abnormal_fat_pad0.57331000
57MP0000762_abnormal_tongue_morphology0.56372598
58MP0005058_abnormal_lysosome_morphology0.54782256
59MP0005670_abnormal_white_adipose0.54761940
60MP0004043_abnormal_pH_regulation0.53203637
61MP0009840_abnormal_foam_cell0.52767362
62MP0005275_abnormal_skin_tensile0.52676786
63MP0005167_abnormal_blood-brain_barrier0.52623729
64MP0000266_abnormal_heart_morphology0.51889613
65MP0005083_abnormal_biliary_tract0.49321858
66MP0008569_lethality_at_weaning0.48573058
67MP0000343_altered_response_to0.46905261
68MP0005452_abnormal_adipose_tissue0.46157425
69MP0002127_abnormal_cardiovascular_syste0.45097688
70MP0002089_abnormal_postnatal_growth/wei0.44398085
71MP0005584_abnormal_enzyme/coenzyme_acti0.43077943
72MP0008775_abnormal_heart_ventricle0.42918085
73MP0002896_abnormal_bone_mineralization0.42147321
74MP0004858_abnormal_nervous_system0.41507660
75MP0003045_fibrosis0.41292407
76MP0003959_abnormal_lean_body0.40803841
77MP0002114_abnormal_axial_skeleton0.40030265
78MP0005319_abnormal_enzyme/_coenzyme0.37352665
79MP0009672_abnormal_birth_weight0.36870537
80MP0004510_myositis0.33282486
81MP0003948_abnormal_gas_homeostasis0.32938040
82MP0006138_congestive_heart_failure0.32819576
83MP0009780_abnormal_chondrocyte_physiolo0.32065846
84MP0002249_abnormal_larynx_morphology0.30680371
85MP0001849_ear_inflammation0.30628753
86MP0002734_abnormal_mechanical_nocicepti0.30336215
87MP0009115_abnormal_fat_cell0.30169108
88MP0010030_abnormal_orbit_morphology0.28520963
89MP0004142_abnormal_muscle_tone0.27940480
90MP0001943_abnormal_respiration0.26673103
91MP0005165_increased_susceptibility_to0.25835826
92MP0003828_pulmonary_edema0.25656960
93MP0001243_abnormal_dermal_layer0.24913350
94MP0008770_decreased_survivor_rate0.23888145
95MP0005076_abnormal_cell_differentiation0.23422020
96MP0005376_homeostasis/metabolism_phenot0.22634159
97MP0005166_decreased_susceptibility_to0.22229225
98MP0004085_abnormal_heartbeat0.22060060
99MP0005503_abnormal_tendon_morphology0.21481832
100MP0001346_abnormal_lacrimal_gland0.21351572
101MP0002932_abnormal_joint_morphology0.21236289
102MP0005535_abnormal_body_temperature0.21215030
103MP0002128_abnormal_blood_circulation0.21093479
104MP0000230_abnormal_systemic_arterial0.20100567
105MP0002066_abnormal_motor_capabilities/c0.19590231
106MP0002118_abnormal_lipid_homeostasis0.19007384
107MP0003567_abnormal_fetal_cardiomyocyte0.18974705
108MP0003075_altered_response_to0.17775010
109MP0002970_abnormal_white_adipose0.17710768
110MP0008874_decreased_physiological_sensi0.17623583
111MP0005332_abnormal_amino_acid0.17330200
112MP0004197_abnormal_fetal_growth/weight/0.17102232
113MP0003385_abnormal_body_wall0.15871324
114MP0002638_abnormal_pupillary_reflex0.15144540
115MP0003195_calcinosis0.15129174
116MP0001542_abnormal_bone_strength0.13690622

Predicted human phenotypes

RankGene SetZ-score
1Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)9.91865181
2Nemaline bodies (HP:0003798)9.38353457
3Exercise-induced myalgia (HP:0003738)8.25951406
4Type 1 muscle fiber predominance (HP:0003803)7.68724800
5Exercise-induced muscle cramps (HP:0003710)7.55877477
6Distal arthrogryposis (HP:0005684)7.47034269
7Muscle hypertrophy of the lower extremities (HP:0008968)6.73823275
8Round ear (HP:0100830)6.35111125
9Ulnar deviation of the wrist (HP:0003049)6.31368456
10Calf muscle hypertrophy (HP:0008981)5.98640105
11* Myopathic facies (HP:0002058)5.55046181
12Difficulty running (HP:0009046)5.54577613
13Calcaneovalgus deformity (HP:0001848)5.42040226
14Muscle fiber splitting (HP:0003555)5.13309734
15Absent phalangeal crease (HP:0006109)5.03585707
16Deformed tarsal bones (HP:0008119)4.95809637
17Myoglobinuria (HP:0002913)4.83272228
18Hyporeflexia of lower limbs (HP:0002600)4.73655956
19EMG: myopathic abnormalities (HP:0003458)4.56161009
20Muscle stiffness (HP:0003552)4.55801872
21Increased connective tissue (HP:0009025)4.27722022
22Abnormal finger flexion creases (HP:0006143)4.21484665
23Abnormality of the calf musculature (HP:0001430)4.13458713
24Rhabdomyolysis (HP:0003201)4.09292662
25Myotonia (HP:0002486)4.04226489
26Abnormality of skeletal muscle fiber size (HP:0012084)3.91415887
27Difficulty climbing stairs (HP:0003551)3.58099166
28Neck muscle weakness (HP:0000467)3.49744893
29Increased variability in muscle fiber diameter (HP:0003557)3.43493104
30Abnormality of the left ventricular outflow tract (HP:0011103)3.36190344
31Subaortic stenosis (HP:0001682)3.36190344
32Abnormality of the calcaneus (HP:0008364)3.31120068
33Rimmed vacuoles (HP:0003805)3.28265384
34Pelvic girdle muscle weakness (HP:0003749)3.26447196
35Frequent falls (HP:0002359)3.25787046
36Shoulder girdle muscle weakness (HP:0003547)3.25375389
37* Malignant hyperthermia (HP:0002047)3.19586382
38Abnormality of the hip-girdle musculature (HP:0001445)3.14982506
39Abnormality of the musculature of the pelvis (HP:0001469)3.14982506
40Abnormality of the neuromuscular junction (HP:0003398)3.14786114
41Fatigable weakness (HP:0003473)3.14786114
42Areflexia of lower limbs (HP:0002522)3.05557808
43Hyperkalemia (HP:0002153)2.84957396
44Fetal akinesia sequence (HP:0001989)2.75072101
45Asymmetric septal hypertrophy (HP:0001670)2.71849231
46Slender build (HP:0001533)2.70901812
47Bundle branch block (HP:0011710)2.63263304
48Bulbar palsy (HP:0001283)2.52903676
49EMG: neuropathic changes (HP:0003445)2.52213027
50Distal lower limb muscle weakness (HP:0009053)2.50836855
51Mildly elevated creatine phosphokinase (HP:0008180)2.47934110
52Weak cry (HP:0001612)2.47710780
53Paralysis (HP:0003470)2.41829058
54Gowers sign (HP:0003391)2.41820816
55Generalized muscle weakness (HP:0003324)2.40581907
56Sudden death (HP:0001699)2.39342274
57Dilated cardiomyopathy (HP:0001644)2.36749085
58Proximal amyotrophy (HP:0007126)2.31966401
59Muscular dystrophy (HP:0003560)2.30963509
60Centrally nucleated skeletal muscle fibers (HP:0003687)2.29583406
61Hypoplastic ischia (HP:0003175)2.29008036
62Limb-girdle muscle weakness (HP:0003325)2.23731382
63Facial diplegia (HP:0001349)2.23630502
64Nonprogressive disorder (HP:0003680)2.23093823
65Distal lower limb amyotrophy (HP:0008944)2.22680480
66Scapular winging (HP:0003691)2.16295969
67Ulnar deviation of finger (HP:0009465)2.13246476
68Spinal rigidity (HP:0003306)2.13200915
69Metatarsus adductus (HP:0001840)2.13058820
70Abnormality of the shoulder girdle musculature (HP:0001435)2.11477116
71Abnormality of the foot musculature (HP:0001436)2.09240651
72Amniotic constriction ring (HP:0009775)2.07124397
73Abnormality of placental membranes (HP:0011409)2.07124397
74Limb-girdle muscle atrophy (HP:0003797)2.06298578
75Progressive muscle weakness (HP:0003323)2.05933206
76Lipoatrophy (HP:0100578)2.04724654
77Muscle fiber inclusion bodies (HP:0100299)10.3576159
78Type 2 muscle fiber atrophy (HP:0003554)1.99796030
79Abnormality of the ischium (HP:0003174)1.98819088
80Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.98361491
81Hip contracture (HP:0003273)1.97963911
82Foot dorsiflexor weakness (HP:0009027)1.97608968
83Waddling gait (HP:0002515)1.88079813
84Increased density of long bones (HP:0006392)1.81964352
85Achilles tendon contracture (HP:0001771)1.81899206
86Muscle fiber atrophy (HP:0100295)1.80843128
87Heart block (HP:0012722)1.74319392
88Ragged-red muscle fibers (HP:0003200)1.70560768
89Ulnar deviation of the hand or of fingers of the hand (HP:0001193)1.70463885
90Tarsal synostosis (HP:0008368)1.69854830
91Respiratory insufficiency due to muscle weakness (HP:0002747)1.67799859
92Lower limb amyotrophy (HP:0007210)1.66860570
93Abnormality of the Achilles tendon (HP:0005109)1.66089809
94Long clavicles (HP:0000890)1.65308486
95Abnormal atrioventricular conduction (HP:0005150)1.65249999
96Exercise intolerance (HP:0003546)1.64451616
97Easy fatigability (HP:0003388)1.59396001
98Cholelithiasis (HP:0001081)1.57183262
99Stridor (HP:0010307)1.55423467
100Adducted thumb (HP:0001181)1.54531260
101Synostosis involving bones of the feet (HP:0009140)1.51742676
102Synostosis involving bones of the lower limbs (HP:0009138)1.51742676
103Ventricular arrhythmia (HP:0004308)1.51296080
104Ventricular tachycardia (HP:0004756)1.50083079
105Congenital hip dislocation (HP:0001374)1.49152416
106Abnormality of potassium homeostasis (HP:0011042)1.45677527
107Aplasia of the musculature (HP:0100854)1.45675145
108Hyperuricemia (HP:0002149)1.41630139
109Increased purine levels (HP:0004368)1.41630139
110Popliteal pterygium (HP:0009756)1.40162434
111Gout (HP:0001997)1.40099096
112Abnormal gallbladder morphology (HP:0012437)1.38176907
113Steppage gait (HP:0003376)1.37921310
114Generalized amyotrophy (HP:0003700)1.35319566
115Increased intramyocellular lipid droplets (HP:0012240)1.34843288
116Limited hip movement (HP:0008800)1.33560071
117Increased muscle lipid content (HP:0009058)1.33238032
118Diaphragmatic weakness (HP:0009113)1.31293536

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN8.85623464
2TTN6.38039990
3PHKG15.18692769
4PHKG25.18692769
5NME14.18653946
6PIK3CG4.04123835
7MAP2K32.90924602
8NEK12.32227589
9MAP3K72.26396171
10TRIB32.15077764
11PINK11.97955102
12MUSK1.89011050
13DMPK1.75979887
14PDK41.74761999
15PDK31.74761999
16MAPK121.67585107
17MAP2K41.61224845
18PIK3CA1.41975023
19BCKDK1.39193675
20MAP2K61.36532564
21PDK21.09251245
22MAP3K131.07516320
23TAOK20.88710583
24MOS0.88690793
25PRKAA20.82683172
26PKN20.81923081
27MAP3K30.80674915
28NEK90.78554891
29PRKAA10.76469060
30RIPK10.75232071
31ERBB30.70597571
32AKT20.70376488
33MAPKAPK30.68588746
34TRPM70.65230647
35MARK30.64570339
36EPHB10.62401161
37MAPK110.61050279
38MARK10.59437347
39CAMK40.57562838
40SIK10.56854746
41PRPF4B0.56514591
42TAOK10.54419597
43MAP3K100.54209102
44TBK10.54156179
45STK240.53931567
46MAP3K110.52162408
47CAMK2G0.52033717
48EEF2K0.50970226
49PTK60.50331284
50ARAF0.48751352
51ILK0.47818511
52LIMK10.40506103
53ZAK0.40249182
54MAP2K10.38467666
55KSR20.37783158
56MAP3K50.35118285
57CAMK10.34012194
58SGK10.32071078
59SGK20.31115955
60RPS6KB10.30563772
61EPHA30.29131661
62CAMK2A0.28966105
63MARK20.28722103
64CAMK2B0.28006057
65PRKG10.27884432
66RPS6KA30.26301071
67PAK60.26215340
68MAPK70.24969833
69MAP3K60.24815137
70PRKACB0.24639232
71ZAP700.24136258
72ERN10.24009693
73CAMK1G0.23072595
74MAP3K10.22702557
75TNK20.22474038
76ROCK10.21896902
77PKN10.21480370
78CDK190.21146191
79TYK20.21078805
80MAPK40.20880253
81DYRK1B0.19576817
82RPS6KL10.18909230
83RPS6KC10.18909230
84ICK0.16729815
85RPS6KB20.16467254
86PDPK10.16231415
87MAP3K90.15948499
88BRAF0.15748827
89BMX0.14792035
90BLK0.14037697
91SGK4940.13935085
92SGK2230.13935085
93PDK10.13392418
94PRKACA0.13215467
95LRRK20.13214163
96MTOR0.12887062
97RPS6KA60.12662600
98PRKD10.11830350
99CDC42BPA0.11519401
100RAF10.11056893
101MAPK100.10172101
102MAPK130.09757164
103DAPK20.09755773
104LATS10.08582561
105RPS6KA20.08516543
106KSR10.08279179
107FGFR10.08206278
108RPS6KA10.07479998
109FGFR40.07118297
110SGK30.06879462
111ROCK20.06850525
112PRKG20.05795684
113CCNB10.05420022
114PTK2B0.04849685
115JAK20.04220913
116MAPK80.03344230
117PAK40.03259071
118STK110.02753987
119CAMK2D0.02745398
120MAPK90.02240422
121TGFBR20.02169804
122LATS20.02057233
123PDGFRA0.01718820
124CDK60.01373193
125CSNK1D0.01181134
126PRKACG0.00994265
127HCK-0.0116477
128PRKCH-0.0111857
129TIE1-0.0105855
130GSK3A-0.0096511
131INSRR-0.0026050

Predicted pathways (KEGG)

RankGene SetZ-score
1Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054104.41126162
2Citrate cycle (TCA cycle)_Homo sapiens_hsa000204.03983826
3Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054123.85995060
4Dilated cardiomyopathy_Homo sapiens_hsa054143.60369117
5Cardiac muscle contraction_Homo sapiens_hsa042603.50510366
62-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.19166312
7Starch and sucrose metabolism_Homo sapiens_hsa005002.96105580
8Circadian rhythm_Homo sapiens_hsa047102.42111799
9Glucagon signaling pathway_Homo sapiens_hsa049222.42076444
10Oxytocin signaling pathway_Homo sapiens_hsa049212.39675435
11Insulin signaling pathway_Homo sapiens_hsa049102.34264128
12Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.24874024
13Insulin resistance_Homo sapiens_hsa049312.10775518
14Carbon metabolism_Homo sapiens_hsa012002.07517579
15Propanoate metabolism_Homo sapiens_hsa006402.03647429
16Glycolysis / Gluconeogenesis_Homo sapiens_hsa000102.00150836
17Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.86637502
18Adipocytokine signaling pathway_Homo sapiens_hsa049201.81693355
19AMPK signaling pathway_Homo sapiens_hsa041521.73489992
20Galactose metabolism_Homo sapiens_hsa000521.67758538
21Calcium signaling pathway_Homo sapiens_hsa040201.67482688
22Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.61111935
23Viral myocarditis_Homo sapiens_hsa054161.51758147
24Fructose and mannose metabolism_Homo sapiens_hsa000511.50686869
25Biosynthesis of amino acids_Homo sapiens_hsa012301.49379778
26Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.41674422
27Tight junction_Homo sapiens_hsa045301.32724222
28Pyruvate metabolism_Homo sapiens_hsa006201.29853418
29Alzheimers disease_Homo sapiens_hsa050101.27797607
30Parkinsons disease_Homo sapiens_hsa050121.25216553
31Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.24834122
32Fatty acid degradation_Homo sapiens_hsa000711.22756061
33cGMP-PKG signaling pathway_Homo sapiens_hsa040221.20555374
34Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.13412162
35Arginine and proline metabolism_Homo sapiens_hsa003301.13342506
36Focal adhesion_Homo sapiens_hsa045101.10835536
37Vascular smooth muscle contraction_Homo sapiens_hsa042701.08236629
38Pentose phosphate pathway_Homo sapiens_hsa000301.05652713
39GnRH signaling pathway_Homo sapiens_hsa049121.04271267
40Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.04025481
41FoxO signaling pathway_Homo sapiens_hsa040681.03694822
42Central carbon metabolism in cancer_Homo sapiens_hsa052301.00742058
43Gastric acid secretion_Homo sapiens_hsa049710.99237017
44Longevity regulating pathway - mammal_Homo sapiens_hsa042110.93379027
45Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.93342406
46Arginine biosynthesis_Homo sapiens_hsa002200.93140139
47Oxidative phosphorylation_Homo sapiens_hsa001900.90429199
48mTOR signaling pathway_Homo sapiens_hsa041500.89142405
49VEGF signaling pathway_Homo sapiens_hsa043700.81151092
50Fatty acid metabolism_Homo sapiens_hsa012120.80426380
51MAPK signaling pathway_Homo sapiens_hsa040100.79014734
52HIF-1 signaling pathway_Homo sapiens_hsa040660.78746829
53Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.70334495
54Renin secretion_Homo sapiens_hsa049240.67336323
55Platelet activation_Homo sapiens_hsa046110.62657681
56Type II diabetes mellitus_Homo sapiens_hsa049300.56189996
57Insulin secretion_Homo sapiens_hsa049110.55132496
58Proteoglycans in cancer_Homo sapiens_hsa052050.54550630
59Leukocyte transendothelial migration_Homo sapiens_hsa046700.52587424
60Regulation of actin cytoskeleton_Homo sapiens_hsa048100.51122189
61Fatty acid biosynthesis_Homo sapiens_hsa000610.48004361
62Amoebiasis_Homo sapiens_hsa051460.46134771
63PPAR signaling pathway_Homo sapiens_hsa033200.45459405
64Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.43923722
65Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.43793007
66Other glycan degradation_Homo sapiens_hsa005110.43359594
67Renal cell carcinoma_Homo sapiens_hsa052110.43156427
68Aldosterone synthesis and secretion_Homo sapiens_hsa049250.41101805
69Adherens junction_Homo sapiens_hsa045200.40624249
70Salivary secretion_Homo sapiens_hsa049700.35664401
71Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.33310731
72Regulation of autophagy_Homo sapiens_hsa041400.32991125
73Long-term depression_Homo sapiens_hsa047300.32922348
74Huntingtons disease_Homo sapiens_hsa050160.32200587
75Cholinergic synapse_Homo sapiens_hsa047250.31368083
76Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.29791316
77AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.28824268
78beta-Alanine metabolism_Homo sapiens_hsa004100.28675848
79Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.28445963
80Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.27611707
81Osteoclast differentiation_Homo sapiens_hsa043800.27253763
82Neurotrophin signaling pathway_Homo sapiens_hsa047220.26212521
83Prolactin signaling pathway_Homo sapiens_hsa049170.24321692
84Bladder cancer_Homo sapiens_hsa052190.23268605
85Butanoate metabolism_Homo sapiens_hsa006500.21313256
86Tuberculosis_Homo sapiens_hsa051520.21284735
87Circadian entrainment_Homo sapiens_hsa047130.20658986
88Chronic myeloid leukemia_Homo sapiens_hsa052200.20216572
89Pertussis_Homo sapiens_hsa051330.19949894
90Acute myeloid leukemia_Homo sapiens_hsa052210.19551385
91Long-term potentiation_Homo sapiens_hsa047200.19220919
92Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.18382882
93Toll-like receptor signaling pathway_Homo sapiens_hsa046200.17869160
94Peroxisome_Homo sapiens_hsa041460.17783780
95Tryptophan metabolism_Homo sapiens_hsa003800.17372099
96Nitrogen metabolism_Homo sapiens_hsa009100.16253811
97T cell receptor signaling pathway_Homo sapiens_hsa046600.15417788
98cAMP signaling pathway_Homo sapiens_hsa040240.15377333
99Glioma_Homo sapiens_hsa052140.13246158
100Melanogenesis_Homo sapiens_hsa049160.11901979
101Sulfur relay system_Homo sapiens_hsa041220.11202253
102Bile secretion_Homo sapiens_hsa049760.10290535
103Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.09691446
104Carbohydrate digestion and absorption_Homo sapiens_hsa049730.09530053
105Pancreatic secretion_Homo sapiens_hsa049720.08226714
106Phenylalanine metabolism_Homo sapiens_hsa003600.07790628
107B cell receptor signaling pathway_Homo sapiens_hsa046620.06426276
108Non-small cell lung cancer_Homo sapiens_hsa052230.06380895
109Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.05957262
110Lysine degradation_Homo sapiens_hsa003100.05709933
111Leishmaniasis_Homo sapiens_hsa051400.05322582
112Thyroid hormone signaling pathway_Homo sapiens_hsa049190.04293973
113ErbB signaling pathway_Homo sapiens_hsa040120.04229564
114Olfactory transduction_Homo sapiens_hsa047400.03745488
115Glycerophospholipid metabolism_Homo sapiens_hsa005640.03694140
116Gap junction_Homo sapiens_hsa045400.03427639

Most similar genes based on co-expression Upload to Enrichr

Tissue Expression Export image »

Cell Line Expression Export image »