HSPB6

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 locus encodes a heat shock protein. The encoded protein likely plays a role in smooth muscle relaxation. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1sarcomere organization (GO:0045214)8.83958532
2muscle filament sliding (GO:0030049)8.31443925
3actin-myosin filament sliding (GO:0033275)8.31443925
4regulation of skeletal muscle contraction (GO:0014819)7.56967698
5cardiac myofibril assembly (GO:0055003)7.56962294
6myofibril assembly (GO:0030239)7.41343864
7negative regulation of potassium ion transmembrane transporter activity (GO:1901017)7.38947464
8plasma membrane repair (GO:0001778)7.10707140
9positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)7.03734191
10actin-mediated cell contraction (GO:0070252)6.87092216
11negative regulation of potassium ion transmembrane transport (GO:1901380)6.61396214
12regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)6.44920131
13sarcoplasmic reticulum calcium ion transport (GO:0070296)6.36847202
14cardiac muscle contraction (GO:0060048)6.20577533
15tricarboxylic acid cycle (GO:0006099)6.11463430
16regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO5.85424224
17regulation of relaxation of muscle (GO:1901077)5.71418778
18cardiac muscle cell development (GO:0055013)5.67257396
19striated muscle contraction (GO:0006941)5.62599688
20actomyosin structure organization (GO:0031032)5.60401226
21regulation of actin filament-based movement (GO:1903115)5.60179383
22regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)5.55161378
23carnitine shuttle (GO:0006853)5.44580629
24cardiac cell development (GO:0055006)5.33336434
25regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)5.33284280
26regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.32166783
27regulation of cell communication by electrical coupling (GO:0010649)5.31863294
28skeletal muscle contraction (GO:0003009)5.21687482
29regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)5.14674284
30actin filament-based movement (GO:0030048)5.13123885
31ventricular cardiac muscle cell action potential (GO:0086005)5.09147041
32regulation of acyl-CoA biosynthetic process (GO:0050812)5.03006399
33bundle of His cell to Purkinje myocyte communication (GO:0086069)4.95876082
34response to stimulus involved in regulation of muscle adaptation (GO:0014874)4.94764713
35cardiac muscle tissue morphogenesis (GO:0055008)4.87302713
36adult heart development (GO:0007512)4.85704188
37creatine metabolic process (GO:0006600)4.72256419
38fatty acid transmembrane transport (GO:1902001)4.68877937
39cardiac muscle hypertrophy (GO:0003300)4.68170003
40regulation of striated muscle contraction (GO:0006942)4.60050290
41heart contraction (GO:0060047)4.60030088
42heart process (GO:0003015)4.60030088
43regulation of coenzyme metabolic process (GO:0051196)4.59339280
44regulation of cofactor metabolic process (GO:0051193)4.59339280
45striated muscle hypertrophy (GO:0014897)4.52569933
46muscle tissue morphogenesis (GO:0060415)4.49486522
47ventricular cardiac muscle tissue morphogenesis (GO:0055010)4.45254966
48heart trabecula formation (GO:0060347)4.44780481
49regulation of sarcomere organization (GO:0060297)4.35713106
50regulation of membrane repolarization (GO:0060306)4.35198303
51skeletal muscle adaptation (GO:0043501)4.31632339
52muscle contraction (GO:0006936)4.10379758
53carnitine transmembrane transport (GO:1902603)4.06554983
54skeletal muscle fiber development (GO:0048741)4.04405221
55NADH metabolic process (GO:0006734)3.98429320
56muscle hypertrophy (GO:0014896)3.98043611
57regulation of sequestering of triglyceride (GO:0010889)3.96127088
582-oxoglutarate metabolic process (GO:0006103)3.95058074
59mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.94128403
60positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.93895300
61response to inactivity (GO:0014854)3.92041701
62cell communication involved in cardiac conduction (GO:0086065)3.91446717
63regulation of the force of heart contraction (GO:0002026)3.91133597
64pyrimidine ribonucleoside catabolic process (GO:0046133)3.83524706
65muscle system process (GO:0003012)3.77813154
66mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.76433373
67myotube cell development (GO:0014904)3.75406722
68cytidine metabolic process (GO:0046087)3.73252233
69cytidine catabolic process (GO:0006216)3.73252233
70cytidine deamination (GO:0009972)3.73252233
71cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.72323838
72regulation of sulfur metabolic process (GO:0042762)3.70949244
73carnitine transport (GO:0015879)3.70028697
74amino-acid betaine transport (GO:0015838)3.70028697
75respiratory electron transport chain (GO:0022904)3.69967803
76oxidative phosphorylation (GO:0006119)3.69086470
77negative regulation of potassium ion transport (GO:0043267)3.65856490
78striated muscle cell development (GO:0055002)3.65747319
79cardiac muscle cell action potential involved in contraction (GO:0086002)3.62525642
80striated muscle adaptation (GO:0014888)3.62402192
81cardiac muscle cell action potential (GO:0086001)3.60461512
82cellular response to epinephrine stimulus (GO:0071872)3.60388768
83electron transport chain (GO:0022900)3.58573753
84regulation of cardiac muscle cell contraction (GO:0086004)3.57256888
85negative regulation of protein localization to cell surface (GO:2000009)3.55925187
86regulation of ATPase activity (GO:0043462)3.55597578
87regulation of ATP catabolic process (GO:1903289)3.55597578
88regulation of cardiac muscle contraction (GO:0055117)3.54115409
89response to muscle activity (GO:0014850)3.54111041
90skeletal muscle tissue development (GO:0007519)3.52951373
91positive regulation of myotube differentiation (GO:0010831)3.51788243
92regulation of heart rate (GO:0002027)3.51074052
93regulation of calcium ion transmembrane transport (GO:1903169)3.50695786
94regulation of calcium ion transmembrane transporter activity (GO:1901019)3.50695786
95glycogen catabolic process (GO:0005980)3.49745617
96positive regulation of cation channel activity (GO:2001259)3.48314697
97ATP synthesis coupled proton transport (GO:0015986)3.46276004
98energy coupled proton transport, down electrochemical gradient (GO:0015985)3.46276004
99cardiac muscle hypertrophy in response to stress (GO:0014898)3.44022062
100muscle hypertrophy in response to stress (GO:0003299)3.44022062
101cardiac muscle adaptation (GO:0014887)3.44022062
102protein heterotrimerization (GO:0070208)3.41792788
103response to epinephrine (GO:0071871)3.40809972
104glycogen biosynthetic process (GO:0005978)3.39055749
105glucan biosynthetic process (GO:0009250)3.39055749
106regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.36611162
107muscle fiber development (GO:0048747)3.34784091
108oxygen transport (GO:0015671)3.32417791
109striated muscle atrophy (GO:0014891)3.30331150
110regulation of heart contraction (GO:0008016)3.26390218
111glucan catabolic process (GO:0009251)3.25277172
112cell migration involved in heart development (GO:0060973)3.22163401
113negative regulation of calcium ion transmembrane transport (GO:1903170)3.21929463
114negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.21929463
115muscle organ development (GO:0007517)3.20016854
116muscle structure development (GO:0061061)3.16091619
117cellular polysaccharide catabolic process (GO:0044247)3.09346383
118negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)2.96974716
119muscle cell fate commitment (GO:0042693)2.93707710
120* regulation of muscle system process (GO:0090257)2.89783497
121* regulation of muscle contraction (GO:0006937)2.86904611
122triglyceride catabolic process (GO:0019433)2.86140793
123muscle cell cellular homeostasis (GO:0046716)2.83482454
124extracellular matrix assembly (GO:0085029)2.81867848
125oxaloacetate metabolic process (GO:0006107)2.77626870
126polysaccharide catabolic process (GO:0000272)2.77491677
127regulation of myoblast differentiation (GO:0045661)2.76976521
128striated muscle tissue development (GO:0014706)2.76102986
129lipid particle organization (GO:0034389)2.74928180
130metanephric mesenchyme development (GO:0072075)2.71269362
131peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)2.70583775
132membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.68965677
133muscle cell development (GO:0055001)2.66955540
134cell-substrate adherens junction assembly (GO:0007045)2.66173500
135focal adhesion assembly (GO:0048041)2.66173500

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1PPARG_19300518_ChIP-PET_3T3-L1_Mouse6.45597110
2TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse4.09343396
3EP300_21415370_ChIP-Seq_HL-1_Mouse3.96458827
4ESRRB_18555785_ChIP-Seq_MESCs_Mouse3.93406821
5TBX20_22080862_ChIP-Seq_HEART_Mouse3.83799932
6TBX20_22328084_ChIP-Seq_HEART_Mouse3.83799932
7ZNF263_19887448_ChIP-Seq_K562_Human3.27130592
8RARG_19884340_ChIP-ChIP_MEFs_Mouse3.19330034
9ESR1_20079471_ChIP-ChIP_T-47D_Human3.04848937
10BP1_19119308_ChIP-ChIP_Hs578T_Human2.93339009
11RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.67755693
12* MEF2A_21415370_ChIP-Seq_HL-1_Mouse2.59977779
13ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.32012558
14CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.25541895
15THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.13789313
16GATA4_21415370_ChIP-Seq_HL-1_Mouse2.05607352
17PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.99611407
18NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.93600582
19ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.91580191
20ESR2_21235772_ChIP-Seq_MCF-7_Human1.88827116
21CLOCK_20551151_ChIP-Seq_293T_Human1.88738130
22CDX2_19796622_ChIP-Seq_MESCs_Mouse1.85933662
23TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.82509002
24NFIB_24661679_ChIP-Seq_LUNG_Mouse1.69710864
25EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.67387909
26NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.63982963
27EZH2_18974828_ChIP-Seq_MESCs_Mouse1.62370999
28RNF2_18974828_ChIP-Seq_MESCs_Mouse1.62370999
29SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.60748590
30PPARA_22158963_ChIP-Seq_LIVER_Mouse1.60636777
31TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.58866311
32MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.57348578
33PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.55212741
34MTF2_20144788_ChIP-Seq_MESCs_Mouse1.48431217
35LXR_22158963_ChIP-Seq_LIVER_Mouse1.44212705
36SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.43516232
37CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.42928958
38WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.41452900
39JARID2_20075857_ChIP-Seq_MESCs_Mouse1.39897364
40CTCF_27219007_Chip-Seq_Bcells_Human1.39553589
41SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.39382708
42EED_16625203_ChIP-ChIP_MESCs_Mouse1.38961835
43SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.38237106
44EZH2_27294783_Chip-Seq_ESCs_Mouse1.37177481
45CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.36305582
46TRIM28_21343339_ChIP-Seq_HEK293_Human1.36232625
47RXR_22158963_ChIP-Seq_LIVER_Mouse1.35398464
48FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.35186906
49BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.33661368
50BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.33316067
51EZH2_22144423_ChIP-Seq_EOC_Human1.33135471
52KDM2B_26808549_Chip-Seq_SUP-B15_Human1.32649701
53RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.29641822
54* TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.27552049
55LXR_22292898_ChIP-Seq_THP-1_Human1.26017206
56TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.25910282
57TP63_22573176_ChIP-Seq_HFKS_Human1.23097719
58NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.22756239
59EZH2_27304074_Chip-Seq_ESCs_Mouse1.21646264
60PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.20872223
61SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.20250465
62KDM2B_26808549_Chip-Seq_DND41_Human1.19724304
63TP53_20018659_ChIP-ChIP_R1E_Mouse1.18762343
64DROSHA_22980978_ChIP-Seq_HELA_Human1.18087985
65RACK7_27058665_Chip-Seq_MCF-7_Human1.16892697
66ESR1_21235772_ChIP-Seq_MCF-7_Human1.15308970
67ATF3_27146783_Chip-Seq_COLON_Human1.14695429
68PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.14097948
69PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.12156645
70RAD21_21589869_ChIP-Seq_MESCs_Mouse1.11467218
71P68_20966046_ChIP-Seq_HELA_Human1.10942564
72* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.10518241
73PPAR_26484153_Chip-Seq_NCI-H1993_Human1.08978245
74ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.08484523
75ELK3_25401928_ChIP-Seq_HUVEC_Human1.07487748
76RNF2_27304074_Chip-Seq_ESCs_Mouse1.06823127
77WT1_25993318_ChIP-Seq_PODOCYTE_Human1.06582861
78SA1_22415368_ChIP-Seq_MEFs_Mouse1.04579567
79GATA2_21666600_ChIP-Seq_HMVEC_Human1.04102681
80SMC3_22415368_ChIP-Seq_MEFs_Mouse1.03895571
81P63_26484246_Chip-Seq_KERATINOCYTES_Human1.01216263
82SMAD_19615063_ChIP-ChIP_OVARY_Human1.01212472
83STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.01020582
84STAT3_1855785_ChIP-Seq_MESCs_Mouse1.00733940
85KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.00682549
86UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.00597189
87SOX9_24532713_ChIP-Seq_HFSC_Mouse1.00144154
88HIF1A_21447827_ChIP-Seq_MCF-7_Human0.99898869
89ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.99884974
90SUZ12_16625203_ChIP-ChIP_MESCs_Mouse0.99775723
91FOXH1_21741376_ChIP-Seq_ESCs_Human0.99463756
92CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse0.98980462
93ERG_21242973_ChIP-ChIP_JURKAT_Human0.98729085
94SUZ12_27294783_Chip-Seq_ESCs_Mouse0.98641165
95OCT4_20526341_ChIP-Seq_ESCs_Human0.98503486
96RUNX1_27514584_Chip-Seq_MCF-7_Human0.97678811
97CTCF_21964334_ChIP-Seq_BJAB-B_Human0.97646733
98MYC_27129775_Chip-Seq_CORNEA_Mouse0.96160599
99WT1_19549856_ChIP-ChIP_CCG9911_Human0.96028659
100SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.95021700
101NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.95018976
102CJUN_26792858_Chip-Seq_BT549_Human0.94929444
103CTCF_21964334_Chip-Seq_Bcells_Human0.94561248
104PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.93905425
105YY1_22570637_ChIP-Seq_MALME-3M_Human0.93248912
106GATA1_19941826_ChIP-Seq_K562_Human0.91996261
107SPI1_20517297_ChIP-Seq_HL60_Human0.90825740
108SMC1_22415368_ChIP-Seq_MEFs_Mouse0.90544565
109BCL6_27268052_Chip-Seq_Bcells_Human0.89505280
110NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.89491381
111NRF2_20460467_ChIP-Seq_MEFs_Mouse0.89491381
112SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.88066166
113ZNF274_21170338_ChIP-Seq_K562_Hela0.87942011
114DNAJC2_21179169_ChIP-ChIP_NT2_Human0.87504608
115EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.87212592
116GATA1_22025678_ChIP-Seq_K562_Human0.86691336
117TET1_21490601_ChIP-Seq_MESCs_Mouse0.85463337
118FOXA2_19822575_ChIP-Seq_HepG2_Human0.85423201
119ZFP281_18757296_ChIP-ChIP_E14_Mouse0.85053225
120LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.84519586
121BCOR_27268052_Chip-Seq_Bcells_Human0.83487970
122CREB1_26743006_Chip-Seq_LNCaP_Human0.83104124
123TP53_23651856_ChIP-Seq_MEFs_Mouse0.82804665
124GATA2_19941826_ChIP-Seq_K562_Human0.81872171
125NR3C1_23031785_ChIP-Seq_PC12_Mouse0.81679467
126SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.81386712
127AUTS2_25519132_ChIP-Seq_293T-REX_Human0.79914990
128SA1_27219007_Chip-Seq_Bcells_Human0.79843552
129SMC4_20622854_ChIP-Seq_HELA_Human0.79466735
130GATA1_19941827_ChIP-Seq_MEL_Mouse0.78695155
131E2F1_20622854_ChIP-Seq_HELA_Human0.77613183
132ISL1_27105846_Chip-Seq_CPCs_Mouse0.77440407
133KDM2B_26808549_Chip-Seq_K562_Human0.77383417
134GATA1_19941827_ChIP-Seq_MEL86_Mouse0.76916532
135CSB_26484114_Chip-Seq_FIBROBLAST_Human0.76511024
136FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.74691192

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002837_dystrophic_cardiac_calcinosis6.55889431
2MP0003646_muscle_fatigue6.27623182
3MP0000751_myopathy5.54837134
4MP0004084_abnormal_cardiac_muscle4.84026999
5MP0000749_muscle_degeneration4.53107024
6MP0004036_abnormal_muscle_relaxation4.22211044
7MP0004215_abnormal_myocardial_fiber4.08864131
8MP0005330_cardiomyopathy3.58459027
9MP0004145_abnormal_muscle_electrophysio3.37048234
10MP0004087_abnormal_muscle_fiber3.24806767
11MP0000750_abnormal_muscle_regeneration2.98389493
12MP0002106_abnormal_muscle_physiology2.93191689
13MP0005620_abnormal_muscle_contractility2.83745905
14MP0002972_abnormal_cardiac_muscle2.80189138
15MP0004130_abnormal_muscle_cell2.75782679
16MP0000747_muscle_weakness2.60808549
17MP0002269_muscular_atrophy2.60320279
18MP0000759_abnormal_skeletal_muscle2.46564788
19MP0003137_abnormal_impulse_conducting2.44176880
20MP0005369_muscle_phenotype2.41800344
21MP0008775_abnormal_heart_ventricle2.41670758
22MP0004484_altered_response_of2.33945587
23MP0010630_abnormal_cardiac_muscle2.33888279
24MP0001544_abnormal_cardiovascular_syste2.33345663
25MP0005385_cardiovascular_system_phenoty2.33345663
26MP0006138_congestive_heart_failure2.01319948
27MP0004233_abnormal_muscle_weight1.98281940
28MP0006036_abnormal_mitochondrial_physio1.81126169
29MP0003221_abnormal_cardiomyocyte_apopto1.79240034
30MP0003828_pulmonary_edema1.71895671
31MP0004085_abnormal_heartbeat1.71462155
32MP0002332_abnormal_exercise_endurance1.67699934
33MP0003950_abnormal_plasma_membrane1.62977223
34MP0005666_abnormal_adipose_tissue1.62139788
35MP0003011_delayed_dark_adaptation1.50121368
36MP0002127_abnormal_cardiovascular_syste1.37753076
37MP0005670_abnormal_white_adipose1.37017257
38MP0004510_myositis1.34820805
39MP0004185_abnormal_adipocyte_glucose1.30597417
40MP0002234_abnormal_pharynx_morphology1.26797342
41MP0002108_abnormal_muscle_morphology1.21995633
42MP0000343_altered_response_to1.16525828
43MP0005375_adipose_tissue_phenotype1.14751340
44MP0003705_abnormal_hypodermis_morpholog1.08301987
45MP0001661_extended_life_span1.06960109
46MP0000266_abnormal_heart_morphology1.02781081
47MP0000733_abnormal_muscle_development1.02629658
48MP0003279_aneurysm1.02313098
49MP0003567_abnormal_fetal_cardiomyocyte0.96459912
50MP0010368_abnormal_lymphatic_system0.95367116
51MP0005165_increased_susceptibility_to0.93067997
52MP0006035_abnormal_mitochondrial_morpho0.92508613
53MP0002295_abnormal_pulmonary_circulatio0.91881914
54MP0005266_abnormal_metabolism0.90494319
55MP0005275_abnormal_skin_tensile0.86782964
56MP0000013_abnormal_adipose_tissue0.81639622
57MP0001542_abnormal_bone_strength0.81330126
58MP0002971_abnormal_brown_adipose0.80872605
59MP0004043_abnormal_pH_regulation0.77843211
60MP0000230_abnormal_systemic_arterial0.76011274
61MP0002909_abnormal_adrenal_gland0.73812186
62MP0003806_abnormal_nucleotide_metabolis0.73028697
63MP0002933_joint_inflammation0.72084468
64MP0002128_abnormal_blood_circulation0.70421839
65MP0000003_abnormal_adipose_tissue0.70044756
66MP0003959_abnormal_lean_body0.69626603
67MP0003566_abnormal_cell_adhesion0.69015496
68MP0005508_abnormal_skeleton_morphology0.67700600
69MP0008438_abnormal_cutaneous_collagen0.66786252
70MP0001879_abnormal_lymphatic_vessel0.59900365
71MP0003091_abnormal_cell_migration0.59226193
72MP0009250_abnormal_appendicular_skeleto0.55922342
73MP0005623_abnormal_meninges_morphology0.55710412
74MP0002078_abnormal_glucose_homeostasis0.55073223
75MP0005319_abnormal_enzyme/_coenzyme0.54097739
76MP0010030_abnormal_orbit_morphology0.53824775
77MP0004858_abnormal_nervous_system0.52481354
78MP0000249_abnormal_blood_vessel0.50737266
79MP0005167_abnormal_blood-brain_barrier0.50689146
80MP0000767_abnormal_smooth_muscle0.50393195
81MP0004147_increased_porphyrin_level0.48891476
82MP0008961_abnormal_basal_metabolism0.48570774
83MP0002249_abnormal_larynx_morphology0.47368425
84MP0003879_abnormal_hair_cell0.46322201
85MP0002970_abnormal_white_adipose0.45890402
86MP0005187_abnormal_penis_morphology0.45622470
87MP0002876_abnormal_thyroid_physiology0.43291884
88MP0005023_abnormal_wound_healing0.43216883
89MP0002060_abnormal_skin_morphology0.43066030
90MP0002877_abnormal_melanocyte_morpholog0.42932483
91MP0005257_abnormal_intraocular_pressure0.42222484
92MP0002638_abnormal_pupillary_reflex0.41658472
93MP0000534_abnormal_ureter_morphology0.40578854
94MP0005334_abnormal_fat_pad0.40563797
95MP0000163_abnormal_cartilage_morphology0.39049132
96MP0000579_abnormal_nail_morphology0.37641659
97MP0003195_calcinosis0.35851408
98MP0002925_abnormal_cardiovascular_devel0.35765170
99MP0005083_abnormal_biliary_tract0.33791223
100MP0005535_abnormal_body_temperature0.33188652
101MP0009780_abnormal_chondrocyte_physiolo0.32699446
102MP0009840_abnormal_foam_cell0.31857804
103MP0003656_abnormal_erythrocyte_physiolo0.31557504
104MP0005451_abnormal_body_composition0.31467614
105MP0001614_abnormal_blood_vessel0.31181096
106MP0004272_abnormal_basement_membrane0.30634257
107MP0002118_abnormal_lipid_homeostasis0.30427335
108MP0009384_cardiac_valve_regurgitation0.29587878
109MP0003045_fibrosis0.29334460
110MP0001299_abnormal_eye_distance/0.28847864
111MP0001784_abnormal_fluid_regulation0.28280187
112MP0003948_abnormal_gas_homeostasis0.28048796
113MP0009115_abnormal_fat_cell0.27980200
114MP0006072_abnormal_retinal_apoptosis0.27962010
115MP0001958_emphysema0.27828406
116MP0000762_abnormal_tongue_morphology0.26417187
117MP0005503_abnormal_tendon_morphology0.26186837
118MP0005584_abnormal_enzyme/coenzyme_acti0.24960599
119MP0001853_heart_inflammation0.24933391
120MP0005595_abnormal_vascular_smooth0.22898523
121MP0005376_homeostasis/metabolism_phenot0.22322168
122MP0005452_abnormal_adipose_tissue0.22007565
123MP0002896_abnormal_bone_mineralization0.21209221

Predicted human phenotypes

RankGene SetZ-score
1Exercise-induced myalgia (HP:0003738)7.07347336
2Exercise-induced muscle cramps (HP:0003710)6.74819121
3Sudden death (HP:0001699)6.73279052
4Calf muscle hypertrophy (HP:0008981)6.62894750
5Muscle hypertrophy of the lower extremities (HP:0008968)6.41178075
6Muscle fiber splitting (HP:0003555)6.16752739
7Ventricular tachycardia (HP:0004756)5.85574409
8Hyporeflexia of lower limbs (HP:0002600)5.41034362
9Muscle fiber inclusion bodies (HP:0100299)5.33422497
10Myoglobinuria (HP:0002913)5.31947239
11Abnormality of the calf musculature (HP:0001430)5.31469785
12Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)5.11661057
13Atrial fibrillation (HP:0005110)4.89083864
14Subaortic stenosis (HP:0001682)4.78502092
15Abnormality of the left ventricular outflow tract (HP:0011103)4.78502092
16EMG: myopathic abnormalities (HP:0003458)4.63941896
17Increased connective tissue (HP:0009025)4.62715971
18Type 1 muscle fiber predominance (HP:0003803)4.58027704
19Primary atrial arrhythmia (HP:0001692)4.56265699
20Lipoatrophy (HP:0100578)4.50822710
21Nemaline bodies (HP:0003798)4.44003120
22Supraventricular tachycardia (HP:0004755)4.40665100
23Difficulty running (HP:0009046)4.39839144
24Right ventricular cardiomyopathy (HP:0011663)4.33247996
25Supraventricular arrhythmia (HP:0005115)4.31454691
26Rhabdomyolysis (HP:0003201)4.17238650
27Centrally nucleated skeletal muscle fibers (HP:0003687)4.02980253
28Asymmetric septal hypertrophy (HP:0001670)4.01438135
29Bundle branch block (HP:0011710)3.99651025
30Dilated cardiomyopathy (HP:0001644)3.87618358
31Myotonia (HP:0002486)3.85724500
32Palpitations (HP:0001962)3.74295282
33Syncope (HP:0001279)3.71376613
34Prolonged QT interval (HP:0001657)3.52789266
35Difficulty climbing stairs (HP:0003551)3.40515455
36Muscle stiffness (HP:0003552)3.34280500
37Heart block (HP:0012722)3.28842200
38Ventricular arrhythmia (HP:0004308)3.28750946
39Protrusio acetabuli (HP:0003179)3.25581713
40Deformed tarsal bones (HP:0008119)3.23606574
41Abnormality of skeletal muscle fiber size (HP:0012084)3.20810643
42Increased variability in muscle fiber diameter (HP:0003557)3.19714462
43Abnormal atrioventricular conduction (HP:0005150)3.16286549
44Slender build (HP:0001533)3.09118817
45Distal arthrogryposis (HP:0005684)3.07901102
46Myopathic facies (HP:0002058)3.07055351
47Atrioventricular block (HP:0001678)3.05862111
48Distal lower limb muscle weakness (HP:0009053)3.01393091
49Neck muscle weakness (HP:0000467)2.97757911
50Areflexia of lower limbs (HP:0002522)2.91566114
51Aortic aneurysm (HP:0004942)2.88230339
52Ventricular fibrillation (HP:0001663)2.86605087
53Round ear (HP:0100830)2.81905830
54Limb-girdle muscle atrophy (HP:0003797)2.69952330
55Rimmed vacuoles (HP:0003805)2.68996177
56Left ventricular hypertrophy (HP:0001712)2.55023286
57Hepatic necrosis (HP:0002605)2.53619103
58Bulbar palsy (HP:0001283)2.53239598
59Abnormal EKG (HP:0003115)2.52876479
60Hip contracture (HP:0003273)2.50822018
61Hypoplastic ischia (HP:0003175)2.47436299
62Ketoacidosis (HP:0001993)2.47168071
63Abnormal mitochondria in muscle tissue (HP:0008316)2.45386882
64Ulnar deviation of the wrist (HP:0003049)2.44913809
65Malignant hyperthermia (HP:0002047)2.41437256
66Acute necrotizing encephalopathy (HP:0006965)2.39016653
67Mildly elevated creatine phosphokinase (HP:0008180)2.36564584
68Abnormal finger flexion creases (HP:0006143)2.32483504
69Lower limb amyotrophy (HP:0007210)2.31134397
70Distal lower limb amyotrophy (HP:0008944)2.30692317
71Testicular atrophy (HP:0000029)2.29709128
72Facial diplegia (HP:0001349)2.29038777
73Palmoplantar keratoderma (HP:0000982)2.28128049
74Muscular dystrophy (HP:0003560)2.24799503
75Increased muscle lipid content (HP:0009058)2.24183368
76Hepatocellular necrosis (HP:0001404)2.21519720
77Oligomenorrhea (HP:0000876)2.19571064
78Hypoglycemic coma (HP:0001325)2.17959306
79EMG: neuropathic changes (HP:0003445)2.17179232
80Abnormality of the ischium (HP:0003174)2.16642355
81Frequent falls (HP:0002359)2.15873310
82Premature rupture of membranes (HP:0001788)2.13205043
83Gowers sign (HP:0003391)2.12228483
84Scapular winging (HP:0003691)2.12128761
85Acute encephalopathy (HP:0006846)2.08309362
86Abnormality of fatty-acid metabolism (HP:0004359)2.05025534
87Central scotoma (HP:0000603)2.04473113
88Generalized muscle weakness (HP:0003324)2.03593409
89Abnormality of the calcaneus (HP:0008364)2.03224139
90Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.01964021
91Conjunctival hamartoma (HP:0100780)2.01767665
92Abnormality of the foot musculature (HP:0001436)2.00618221
93Exercise intolerance (HP:0003546)2.00200992
94Spinal rigidity (HP:0003306)1.98672826
95Foot dorsiflexor weakness (HP:0009027)1.97965715
96Mitochondrial inheritance (HP:0001427)1.97772716
97Progressive macrocephaly (HP:0004481)1.97704043
98Proximal amyotrophy (HP:0007126)1.95519879
99Dicarboxylic aciduria (HP:0003215)1.95383313
100Abnormality of dicarboxylic acid metabolism (HP:0010995)1.95383313
101Abnormality of the shoulder girdle musculature (HP:0001435)1.93274863
102Weak cry (HP:0001612)1.93247030
103Ankle contracture (HP:0006466)1.91444872
104Waddling gait (HP:0002515)1.90616653
105Increased intramyocellular lipid droplets (HP:0012240)1.89554618
106Cerebral edema (HP:0002181)1.89159040
107Generalized amyotrophy (HP:0003700)1.87565498
108Limb-girdle muscle weakness (HP:0003325)1.87485122
109Calcaneovalgus deformity (HP:0001848)1.87192249
110Limited hip movement (HP:0008800)1.86690097
111Respiratory insufficiency due to muscle weakness (HP:0002747)1.86317731
112Vascular tortuosity (HP:0004948)1.85354132
113Aortic dissection (HP:0002647)1.85090682
114Progressive muscle weakness (HP:0003323)1.85082818
115Increased CSF lactate (HP:0002490)1.85042801
116Ketosis (HP:0001946)1.84678816
117Large for gestational age (HP:0001520)1.78140584
118Absent phalangeal crease (HP:0006109)1.77068529
119Ragged-red muscle fibers (HP:0003200)1.77005149
120Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.76790682
121Abnormality of alanine metabolism (HP:0010916)1.76790682
122Hyperalaninemia (HP:0003348)1.76790682
123Fetal akinesia sequence (HP:0001989)1.71409854
124Metatarsus adductus (HP:0001840)1.69440671
125Broad metatarsal (HP:0001783)1.68205806
126Infantile muscular hypotonia (HP:0008947)1.65816726
127Hyperkalemia (HP:0002153)1.64560286
128Cerebral aneurysm (HP:0004944)1.63242221
129Fatigable weakness (HP:0003473)1.59364531
130Abnormality of the neuromuscular junction (HP:0003398)1.59364531
131Breech presentation (HP:0001623)1.58808475
132Shallow orbits (HP:0000586)1.57476718
133Steppage gait (HP:0003376)1.56325011

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TTN6.84735654
2OBSCN5.60583174
3PHKG24.56210575
4PHKG14.56210575
5PDK43.12260704
6PDK33.12260704
7LMTK22.88885501
8DMPK2.87885831
9MYLK2.82248121
10TRIB32.74818957
11BCKDK2.48233602
12PKN22.42278958
13NEK12.23359317
14PINK12.20365748
15PIK3CA2.14459543
16MUSK2.12907015
17PDK21.98688798
18NME11.64995692
19DDR21.57123899
20PIK3CG1.54847803
21TIE11.54423739
22MAP2K31.53060134
23STK241.46934886
24EEF2K1.43448890
25MAP3K71.36143445
26MARK11.27749721
27MAPK121.24000685
28PAK31.14813352
29LIMK11.14309441
30MOS1.13031084
31MAP3K31.11532261
32PRKD11.07603843
33MAPKAPK31.05117718
34GRK71.04813673
35CAMK2D1.03583323
36TESK11.01871463
37MAP3K61.01316687
38ILK0.95602002
39MAPK40.89477745
40PRKAA10.88904681
41RIPK10.88169769
42PRKAA20.84041596
43TRPM70.82809021
44ROCK10.81893181
45INSRR0.79785869
46ZAK0.79521405
47STK38L0.76985470
48DYRK1B0.73378629
49EPHB10.72346941
50MAP3K50.71895017
51PAK20.70188057
52MAP2K10.69050998
53FLT30.67704676
54GRK10.65921855
55WNK40.64951408
56PDGFRA0.64910061
57PKN10.63099732
58MAP3K130.62698285
59STK40.62502943
60CDC42BPA0.60444075
61GRK50.59703281
62KSR20.58780817
63ABL20.56488372
64NEK90.56353281
65STK380.54585429
66AKT30.52889451
67CAMK40.52760595
68PRPF4B0.52353562
69TGFBR20.52247766
70ERN10.50733299
71PTK20.50007478
72MARK20.49738374
73MAP2K60.49618141
74ROCK20.47433004
75CAMK2B0.46988636
76SIK10.46592190
77TAOK10.45918872
78* PRKG10.45719661
79MAP2K40.45392028
80PRKD20.43395007
81ARAF0.43074479
82AKT20.42846771
83CAMK2G0.42813773
84PRKACB0.42518322
85ADRBK10.42255043
86RPS6KC10.41683653
87RPS6KL10.41683653
88CAMK2A0.40304130
89WNK10.39548613
90MAP3K110.37463034
91KDR0.36728816
92PTK2B0.36396388
93ICK0.36252220
94KIT0.35518013
95DAPK30.35368211
96LATS10.35236228
97RPS6KA60.35089786
98PTK60.34119388
99PRKACG0.32679347
100PRKD30.32551175
101PDGFRB0.32233271
102PDPK10.31967893
103* PRKACA0.31827754
104CAMK10.31020595
105EPHA30.30971277
106MAPK110.30939920
107FER0.30723625
108PRKCH0.27032313
109MAP3K10.25833277
110SGK30.25733054
111LATS20.25345008
112SGK20.24772477
113EPHB20.24511239
114PRKCE0.24287611
115MAPK100.23916604
116TBK10.23363389
117PRKG20.22979717
118RPS6KA10.22645130
119PDK10.22274379
120NME20.21889135
121MTOR0.21693730
122NTRK10.20803974
123FGFR40.20787888
124SGK10.20678536
125TAOK20.19703521
126MAPK70.18693784
127LRRK20.17123896
128RET0.17089957
129JAK10.16679681
130RPS6KA30.15688723
131RPS6KA20.11870973

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000205.69981449
22-Oxocarboxylic acid metabolism_Homo sapiens_hsa012104.24361077
3Cardiac muscle contraction_Homo sapiens_hsa042604.06850360
4Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054103.69298509
5Dilated cardiomyopathy_Homo sapiens_hsa054143.64757638
6Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.40926055
7Propanoate metabolism_Homo sapiens_hsa006403.22377339
8Parkinsons disease_Homo sapiens_hsa050122.91360467
9Fatty acid degradation_Homo sapiens_hsa000712.82923855
10Oxidative phosphorylation_Homo sapiens_hsa001902.82298470
11Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.65456730
12Carbon metabolism_Homo sapiens_hsa012002.46504194
13Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.26155296
14Alzheimers disease_Homo sapiens_hsa050102.22006099
15Fatty acid metabolism_Homo sapiens_hsa012122.10635309
16Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.10048943
17Pyruvate metabolism_Homo sapiens_hsa006201.80307699
18Huntingtons disease_Homo sapiens_hsa050161.73140313
19Viral myocarditis_Homo sapiens_hsa054161.64675247
20Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.61875360
21Starch and sucrose metabolism_Homo sapiens_hsa005001.47107214
22Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.46125698
23Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.46077163
24Butanoate metabolism_Homo sapiens_hsa006501.31934363
25Insulin resistance_Homo sapiens_hsa049311.29220358
26Glucagon signaling pathway_Homo sapiens_hsa049221.22722501
27Fatty acid elongation_Homo sapiens_hsa000621.21740869
28Biosynthesis of amino acids_Homo sapiens_hsa012301.19736159
29PPAR signaling pathway_Homo sapiens_hsa033201.12879639
30Adipocytokine signaling pathway_Homo sapiens_hsa049201.12246136
31Insulin signaling pathway_Homo sapiens_hsa049101.11795763
32cGMP-PKG signaling pathway_Homo sapiens_hsa040220.98765776
33Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.96696298
34Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.90079180
35AMPK signaling pathway_Homo sapiens_hsa041520.87863689
36Arginine biosynthesis_Homo sapiens_hsa002200.86359219
37Galactose metabolism_Homo sapiens_hsa000520.84871360
38Arginine and proline metabolism_Homo sapiens_hsa003300.80644266
39Tryptophan metabolism_Homo sapiens_hsa003800.80066324
40Calcium signaling pathway_Homo sapiens_hsa040200.79809802
41Long-term potentiation_Homo sapiens_hsa047200.79799536
42Oxytocin signaling pathway_Homo sapiens_hsa049210.79577467
43Focal adhesion_Homo sapiens_hsa045100.79368491
44Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.79069598
45Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.78863831
46beta-Alanine metabolism_Homo sapiens_hsa004100.75229900
47HIF-1 signaling pathway_Homo sapiens_hsa040660.68925694
48Lysine degradation_Homo sapiens_hsa003100.68219311
49Fructose and mannose metabolism_Homo sapiens_hsa000510.66260656
50Vascular smooth muscle contraction_Homo sapiens_hsa042700.66148120
51Circadian rhythm_Homo sapiens_hsa047100.66052326
52Protein digestion and absorption_Homo sapiens_hsa049740.65787983
53Melanogenesis_Homo sapiens_hsa049160.64746875
54Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.61178640
55Phenylalanine metabolism_Homo sapiens_hsa003600.58407906
56Tight junction_Homo sapiens_hsa045300.58099183
57Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.56984318
58Histidine metabolism_Homo sapiens_hsa003400.56662919
59Fatty acid biosynthesis_Homo sapiens_hsa000610.55031360
60Type II diabetes mellitus_Homo sapiens_hsa049300.54882018
61Central carbon metabolism in cancer_Homo sapiens_hsa052300.54421870
62Peroxisome_Homo sapiens_hsa041460.52992918
63Phospholipase D signaling pathway_Homo sapiens_hsa040720.52262566
64ECM-receptor interaction_Homo sapiens_hsa045120.52177796
65Prion diseases_Homo sapiens_hsa050200.48040823
66Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.47166915
67Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.46178148
68Salivary secretion_Homo sapiens_hsa049700.45631829
69Longevity regulating pathway - mammal_Homo sapiens_hsa042110.44807346
70Thyroid hormone signaling pathway_Homo sapiens_hsa049190.44166739
71Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.44018181
72Gastric acid secretion_Homo sapiens_hsa049710.42460283
73Renin secretion_Homo sapiens_hsa049240.42270969
74Glioma_Homo sapiens_hsa052140.41465144
75Estrogen signaling pathway_Homo sapiens_hsa049150.40063435
76Amphetamine addiction_Homo sapiens_hsa050310.38943911
77PI3K-Akt signaling pathway_Homo sapiens_hsa041510.38912535
78Insulin secretion_Homo sapiens_hsa049110.37822183
79Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.37474581
80Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.35769415
81Malaria_Homo sapiens_hsa051440.34861630
82Complement and coagulation cascades_Homo sapiens_hsa046100.34023611
83Adherens junction_Homo sapiens_hsa045200.31532063
84cAMP signaling pathway_Homo sapiens_hsa040240.31363810
85Amoebiasis_Homo sapiens_hsa051460.31037393
86Fat digestion and absorption_Homo sapiens_hsa049750.29416372
87Neurotrophin signaling pathway_Homo sapiens_hsa047220.25710489
88Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.25488911
89Notch signaling pathway_Homo sapiens_hsa043300.24735871
90Tyrosine metabolism_Homo sapiens_hsa003500.24277520
91Metabolic pathways_Homo sapiens_hsa011000.24276028
92Aldosterone synthesis and secretion_Homo sapiens_hsa049250.23985371
93Renal cell carcinoma_Homo sapiens_hsa052110.21977949
94Proteoglycans in cancer_Homo sapiens_hsa052050.21262487
95VEGF signaling pathway_Homo sapiens_hsa043700.20518210
96Phototransduction_Homo sapiens_hsa047440.20234875
97GnRH signaling pathway_Homo sapiens_hsa049120.20195722
98Cysteine and methionine metabolism_Homo sapiens_hsa002700.19553244
99mTOR signaling pathway_Homo sapiens_hsa041500.18152977
100Regulation of actin cytoskeleton_Homo sapiens_hsa048100.17830659
101Platelet activation_Homo sapiens_hsa046110.16664687
102FoxO signaling pathway_Homo sapiens_hsa040680.15052737
103Leukocyte transendothelial migration_Homo sapiens_hsa046700.13426929
104Pentose phosphate pathway_Homo sapiens_hsa000300.12226463
105Circadian entrainment_Homo sapiens_hsa047130.12099994
106Caffeine metabolism_Homo sapiens_hsa002320.10241707
107Glycerolipid metabolism_Homo sapiens_hsa005610.10179766
108Ovarian steroidogenesis_Homo sapiens_hsa049130.10049669
109Pancreatic secretion_Homo sapiens_hsa049720.08817859
110Bile secretion_Homo sapiens_hsa049760.08409766
111Dorso-ventral axis formation_Homo sapiens_hsa043200.08102847
112AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.07976089
113MAPK signaling pathway_Homo sapiens_hsa040100.07262606
114Cholinergic synapse_Homo sapiens_hsa047250.05444427
115Gap junction_Homo sapiens_hsa045400.05417745
116Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.05190345
117Sulfur metabolism_Homo sapiens_hsa009200.05104076
118ABC transporters_Homo sapiens_hsa020100.05049828
119Toxoplasmosis_Homo sapiens_hsa051450.03295949

Most similar genes based on co-expression Upload to Enrichr

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