HSPB7

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





Description: This gene encodes a small heat shock family B member that can heterodimerize with similar heat shock proteins. Defects in this gene are associated with advanced heart failure. In addition, the encoded protein may be a tumor suppressor in the p53 pathway, with defects in this gene being associated with renal cell carcinoma. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1sarcomere organization (GO:0045214)9.45062929
2cardiac myofibril assembly (GO:0055003)8.73734684
3negative regulation of potassium ion transmembrane transporter activity (GO:1901017)8.06855090
4myofibril assembly (GO:0030239)7.92002125
5actin-myosin filament sliding (GO:0033275)7.58159207
6muscle filament sliding (GO:0030049)7.58159207
7negative regulation of potassium ion transmembrane transport (GO:1901380)7.34034214
8cardiac muscle contraction (GO:0060048)6.77926148
9positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)6.69424867
10plasma membrane repair (GO:0001778)6.67478721
11regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO6.51015566
12cardiac muscle cell development (GO:0055013)6.42977663
13regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)6.33994935
14actin-mediated cell contraction (GO:0070252)6.26952222
15regulation of actin filament-based movement (GO:1903115)6.15930511
16tricarboxylic acid cycle (GO:0006099)6.15314148
17regulation of skeletal muscle contraction (GO:0014819)6.04808924
18cardiac cell development (GO:0055006)6.04166582
19actomyosin structure organization (GO:0031032)5.94647522
20adult heart development (GO:0007512)5.84045283
21ventricular cardiac muscle cell action potential (GO:0086005)5.83550677
22cardiac muscle tissue morphogenesis (GO:0055008)5.77855421
23regulation of relaxation of muscle (GO:1901077)5.76837592
24regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)5.73493142
25regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)5.72492305
26bundle of His cell to Purkinje myocyte communication (GO:0086069)5.71520805
27ventricular cardiac muscle tissue morphogenesis (GO:0055010)5.66290194
28cardiac muscle hypertrophy (GO:0003300)5.49781799
29striated muscle contraction (GO:0006941)5.49069924
30striated muscle hypertrophy (GO:0014897)5.23128759
31regulation of sarcomere organization (GO:0060297)5.23063985
32muscle tissue morphogenesis (GO:0060415)5.22209861
33heart trabecula formation (GO:0060347)5.20726938
34sarcoplasmic reticulum calcium ion transport (GO:0070296)5.17572199
35regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)5.16589713
36carnitine shuttle (GO:0006853)5.12907141
37regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.01288593
38regulation of striated muscle contraction (GO:0006942)4.99790205
39cardiac chamber formation (GO:0003207)4.97248808
40heart contraction (GO:0060047)4.89476328
41heart process (GO:0003015)4.89476328
42regulation of cell communication by electrical coupling (GO:0010649)4.89161986
43regulation of the force of heart contraction (GO:0002026)4.75798679
44actin filament-based movement (GO:0030048)4.72681386
45regulation of membrane repolarization (GO:0060306)4.72624314
46regulation of acyl-CoA biosynthetic process (GO:0050812)4.69586936
47muscle hypertrophy (GO:0014896)4.63103347
48cell communication involved in cardiac conduction (GO:0086065)4.62800559
49cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.60967401
50cardiac ventricle formation (GO:0003211)4.52759427
51fatty acid transmembrane transport (GO:1902001)4.40663604
52response to stimulus involved in regulation of muscle adaptation (GO:0014874)4.38719392
53regulation of coenzyme metabolic process (GO:0051196)4.27885645
54regulation of cofactor metabolic process (GO:0051193)4.27885645
55regulation of cardioblast differentiation (GO:0051890)4.24874033
56regulation of cardiac muscle cell contraction (GO:0086004)4.23009300
57regulation of cardiac muscle contraction (GO:0055117)4.14311861
58negative regulation of cardiac muscle cell apoptotic process (GO:0010667)4.12155778
59negative regulation of protein localization to cell surface (GO:2000009)4.08529338
60cardiac muscle cell action potential involved in contraction (GO:0086002)4.06247444
61cardiac muscle hypertrophy in response to stress (GO:0014898)4.03080744
62muscle hypertrophy in response to stress (GO:0003299)4.03080744
63cardiac muscle adaptation (GO:0014887)4.03080744
64negative regulation of potassium ion transport (GO:0043267)4.02332608
65cardiac muscle cell action potential (GO:0086001)4.01791081
66regulation of heart rate (GO:0002027)4.00766887
67positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.99829719
68mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.96555966
69cell communication by electrical coupling (GO:0010644)3.96293493
70negative regulation of striated muscle cell apoptotic process (GO:0010664)3.91936393
71creatine metabolic process (GO:0006600)3.88842176
72regulation of ATPase activity (GO:0043462)3.85952558
73regulation of ATP catabolic process (GO:1903289)3.85952558
74skeletal muscle contraction (GO:0003009)3.80090526
75carnitine transmembrane transport (GO:1902603)3.79385255
76NADH metabolic process (GO:0006734)3.77433975
77regulation of muscle contraction (GO:0006937)3.75021350
782-oxoglutarate metabolic process (GO:0006103)3.73351423
79membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.73242090
80striated muscle cell development (GO:0055002)3.72892596
81oxygen transport (GO:0015671)3.72244959
82muscle contraction (GO:0006936)3.70293837
83relaxation of cardiac muscle (GO:0055119)3.70053703
84cellular response to epinephrine stimulus (GO:0071872)3.68691135
85ATP synthesis coupled proton transport (GO:0015986)3.67327118
86energy coupled proton transport, down electrochemical gradient (GO:0015985)3.67327118
87* regulation of heart contraction (GO:0008016)3.62896786
88mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.62530988
89response to epinephrine (GO:0071871)3.61681813
90response to muscle activity (GO:0014850)3.57844830
91ventricular cardiac muscle cell development (GO:0055015)3.56765154
92respiratory electron transport chain (GO:0022904)3.54459791
93detection of calcium ion (GO:0005513)3.54175118
94cardiac conduction (GO:0061337)3.53824285
95oxidative phosphorylation (GO:0006119)3.51475706
96atrial septum morphogenesis (GO:0060413)3.51324810
97regulation of sulfur metabolic process (GO:0042762)3.50626617
98regulation of muscle system process (GO:0090257)3.50334413
99positive regulation of cation channel activity (GO:2001259)3.49819659
100response to inactivity (GO:0014854)3.49201869
101muscle system process (GO:0003012)3.46582487
102regulation of heart rate by cardiac conduction (GO:0086091)3.46231925
103amino-acid betaine transport (GO:0015838)3.44806211
104carnitine transport (GO:0015879)3.44806211
105regulation of sequestering of triglyceride (GO:0010889)3.43765200
106electron transport chain (GO:0022900)3.43362618
107striated muscle adaptation (GO:0014888)3.42959588
108positive regulation of heart contraction (GO:0045823)3.40523040
109positive regulation of heart rate (GO:0010460)3.39795376
110cardiac muscle tissue development (GO:0048738)3.39630581
111regulation of calcium ion transmembrane transporter activity (GO:1901019)3.38387971
112regulation of calcium ion transmembrane transport (GO:1903169)3.38387971
113muscle cell development (GO:0055001)3.30490385
114negative regulation of calcium ion transmembrane transport (GO:1903170)3.26729668
115negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.26729668
116adrenergic receptor signaling pathway (GO:0071875)3.24119346
117muscle fiber development (GO:0048747)3.22158441
118relaxation of muscle (GO:0090075)3.17812504
119response to caffeine (GO:0031000)3.11841816
120neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)3.11014552
121regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.07758556

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1PPARG_19300518_ChIP-PET_3T3-L1_Mouse6.37788782
2EP300_21415370_ChIP-Seq_HL-1_Mouse4.96556798
3* TBX20_22328084_ChIP-Seq_HEART_Mouse4.13445992
4* TBX20_22080862_ChIP-Seq_HEART_Mouse4.13445992
5ESRRB_18555785_ChIP-Seq_MESCs_Mouse4.08983009
6RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.70782420
7TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.69217318
8MEF2A_21415370_ChIP-Seq_HL-1_Mouse3.19543033
9ZNF263_19887448_ChIP-Seq_K562_Human3.17979221
10ESR1_20079471_ChIP-ChIP_T-47D_Human3.08692830
11RARG_19884340_ChIP-ChIP_MEFs_Mouse2.87402958
12CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.60372087
13* GATA4_21415370_ChIP-Seq_HL-1_Mouse2.28180501
14THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.25056006
15BP1_19119308_ChIP-ChIP_Hs578T_Human2.22034906
16* EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.16118250
17EZH2_22144423_ChIP-Seq_EOC_Human2.12798144
18CDX2_19796622_ChIP-Seq_MESCs_Mouse1.98929630
19NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.96710407
20ESR2_21235772_ChIP-Seq_MCF-7_Human1.87482690
21ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.82435093
22PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.80880012
23PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.76361875
24NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.75122541
25CLOCK_20551151_ChIP-Seq_293T_Human1.74097507
26TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.73197901
27ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.54361440
28KDM2B_26808549_Chip-Seq_SUP-B15_Human1.54286550
29NFIB_24661679_ChIP-Seq_LUNG_Mouse1.51185668
30TRIM28_21343339_ChIP-Seq_HEK293_Human1.46603879
31TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.46532550
32CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.42909090
33NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.39785660
34PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.33694827
35TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.32871976
36RNF2_18974828_ChIP-Seq_MESCs_Mouse1.32662093
37EZH2_18974828_ChIP-Seq_MESCs_Mouse1.32662093
38EZH2_27304074_Chip-Seq_ESCs_Mouse1.31804200
39DROSHA_22980978_ChIP-Seq_HELA_Human1.30775735
40FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.29981629
41KDM2B_26808549_Chip-Seq_DND41_Human1.28680371
42EZH2_27294783_Chip-Seq_ESCs_Mouse1.28403285
43GATA2_21666600_ChIP-Seq_HMVEC_Human1.28071506
44ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.27105109
45TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.26175899
46WT1_19549856_ChIP-ChIP_CCG9911_Human1.25214772
47PPAR_26484153_Chip-Seq_NCI-H1993_Human1.23297043
48TP63_22573176_ChIP-Seq_HFKS_Human1.23156651
49RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.23075771
50PPARA_22158963_ChIP-Seq_LIVER_Mouse1.23048862
51* CTCF_27219007_Chip-Seq_Bcells_Human1.21977123
52BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.21576156
53SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.21319511
54LXR_22158963_ChIP-Seq_LIVER_Mouse1.20351574
55ELK3_25401928_ChIP-Seq_HUVEC_Human1.19746919
56MTF2_20144788_ChIP-Seq_MESCs_Mouse1.17730246
57GATA1_19941826_ChIP-Seq_K562_Human1.16840190
58SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.15273556
59* LXR_22292898_ChIP-Seq_THP-1_Human1.13504542
60ISL1_27105846_Chip-Seq_CPCs_Mouse1.08696330
61NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.07460231
62* PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.07406482
63ATF3_27146783_Chip-Seq_COLON_Human1.06900222
64GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.05670496
65RUNX1_27514584_Chip-Seq_MCF-7_Human1.05211095
66* RACK7_27058665_Chip-Seq_MCF-7_Human1.05050031
67SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.03418380
68JARID2_20075857_ChIP-Seq_MESCs_Mouse1.02433421
69SOX9_24532713_ChIP-Seq_HFSC_Mouse1.01960003
70KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.99871102
71SMC3_22415368_ChIP-Seq_MEFs_Mouse0.99386940
72SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.99079388
73ZFP281_18757296_ChIP-ChIP_E14_Mouse0.98549789
74SALL4_18804426_ChIP-ChIP_XEN_Mouse0.98301872
75HIF1A_21447827_ChIP-Seq_MCF-7_Human0.98033465
76STAT3_1855785_ChIP-Seq_MESCs_Mouse0.97385116
77PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.96766389
78NR3C1_23031785_ChIP-Seq_PC12_Mouse0.96721346
79SPI1_20517297_ChIP-Seq_HL60_Human0.96284059
80EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.94361143
81CTNNB1_20460455_ChIP-Seq_HCT116_Human0.92435309
82EED_16625203_ChIP-ChIP_MESCs_Mouse0.92365379
83FOXA2_19822575_ChIP-Seq_HepG2_Human0.90320621
84* P68_20966046_ChIP-Seq_HELA_Human0.90242062
85BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.89671978
86NRF2_20460467_ChIP-Seq_MEFs_Mouse0.89660961
87NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.89660961
88GATA2_19941826_ChIP-Seq_K562_Human0.89235187
89CJUN_26792858_Chip-Seq_BT549_Human0.88878878
90RXR_22158963_ChIP-Seq_LIVER_Mouse0.88255641
91WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.88169594
92GATA1_19941827_ChIP-Seq_MEL_Mouse0.87701751
93GATA1_19941827_ChIP-Seq_MEL86_Mouse0.87498956
94* UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.87467232
95TP53_23651856_ChIP-Seq_MEFs_Mouse0.87334427
96ESR1_21235772_ChIP-Seq_MCF-7_Human0.86996995
97SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.86881315
98RNF2_27304074_Chip-Seq_ESCs_Mouse0.86832150
99OCT4_20526341_ChIP-Seq_ESCs_Human0.86240903
100STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.85118886
101SMAD3_21741376_ChIP-Seq_HESCs_Human0.84900327
102ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.84589312
103LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.84350897
104SPI1_23127762_ChIP-Seq_K562_Human0.83936382
105MYC_27129775_Chip-Seq_CORNEA_Mouse0.83433681
106PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.82991269
107PCGF2_27294783_Chip-Seq_NPCs_Mouse0.82794810
108GF1_26923725_Chip-Seq_HPCs_Mouse0.81733390
109TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.81577640
110SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.81456157
111KDM2B_26808549_Chip-Seq_K562_Human0.81385852
112CTCF_21964334_Chip-Seq_Bcells_Human0.80561174
113ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.79657214
114BCL6_27268052_Chip-Seq_Bcells_Human0.78431712
115GATA1_22025678_ChIP-Seq_K562_Human0.77627007
116MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.77469831
117DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.77250635
118DNAJC2_21179169_ChIP-ChIP_NT2_Human0.77229539
119SMAD4_21741376_ChIP-Seq_HESCs_Human0.77149168
120RARB_27405468_Chip-Seq_BRAIN_Mouse0.77118149
121SMC1_22415368_ChIP-Seq_MEFs_Mouse0.76518260
122AUTS2_25519132_ChIP-Seq_293T-REX_Human0.76245729
123BCOR_27268052_Chip-Seq_Bcells_Human0.76017448
124SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.75779704
125* WT1_25993318_ChIP-Seq_PODOCYTE_Human0.75760098
126GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.75737296
127CBX2_27304074_Chip-Seq_ESCs_Mouse0.75304654
128SOX2_21211035_ChIP-Seq_LN229_Gbm0.73796150
129RAD21_21589869_ChIP-Seq_MESCs_Mouse0.73500787
130VDR_22108803_ChIP-Seq_LS180_Human0.73451411
131TP53_20018659_ChIP-ChIP_R1E_Mouse0.72025555
132RING1B_27294783_Chip-Seq_ESCs_Mouse0.71307873

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002837_dystrophic_cardiac_calcinosis7.12107995
2MP0004084_abnormal_cardiac_muscle5.78405686
3MP0003646_muscle_fatigue5.63240029
4MP0000751_myopathy5.25188975
5MP0004215_abnormal_myocardial_fiber4.72050891
6MP0004036_abnormal_muscle_relaxation4.33154546
7MP0000749_muscle_degeneration3.95450449
8MP0005330_cardiomyopathy3.93075039
9MP0002972_abnormal_cardiac_muscle3.17104531
10MP0004087_abnormal_muscle_fiber3.15109280
11MP0003137_abnormal_impulse_conducting2.93097106
12MP0008775_abnormal_heart_ventricle2.89103444
13MP0000750_abnormal_muscle_regeneration2.81140532
14MP0005620_abnormal_muscle_contractility2.74007311
15MP0005385_cardiovascular_system_phenoty2.64270123
16MP0001544_abnormal_cardiovascular_syste2.64270123
17MP0010630_abnormal_cardiac_muscle2.62535901
18MP0002106_abnormal_muscle_physiology2.60200558
19MP0006138_congestive_heart_failure2.46349893
20MP0004130_abnormal_muscle_cell2.42143597
21MP0004484_altered_response_of2.36815311
22MP0004145_abnormal_muscle_electrophysio2.31830294
23MP0002269_muscular_atrophy2.31435612
24MP0003828_pulmonary_edema2.27354556
25MP0005369_muscle_phenotype2.12877774
26MP0004085_abnormal_heartbeat2.09214783
27MP0000747_muscle_weakness2.06735429
28MP0000759_abnormal_skeletal_muscle2.03541952
29MP0003221_abnormal_cardiomyocyte_apopto1.92357334
30MP0004510_myositis1.81589482
31MP0004233_abnormal_muscle_weight1.72663319
32MP0002127_abnormal_cardiovascular_syste1.62827289
33MP0003950_abnormal_plasma_membrane1.60855062
34MP0006036_abnormal_mitochondrial_physio1.57191708
35MP0005666_abnormal_adipose_tissue1.42282420
36MP0002332_abnormal_exercise_endurance1.33458458
37MP0003567_abnormal_fetal_cardiomyocyte1.31244119
38MP0005670_abnormal_white_adipose1.30184659
39MP0003279_aneurysm1.23711145
40MP0002234_abnormal_pharynx_morphology1.22221911
41MP0010368_abnormal_lymphatic_system1.18881684
42MP0000343_altered_response_to1.18501131
43MP0000266_abnormal_heart_morphology1.15013744
44MP0005165_increased_susceptibility_to1.01331078
45MP0004185_abnormal_adipocyte_glucose1.01281859
46MP0005375_adipose_tissue_phenotype1.00890414
47MP0002108_abnormal_muscle_morphology0.95477748
48MP0001661_extended_life_span0.91405383
49MP0006035_abnormal_mitochondrial_morpho0.88505988
50MP0005623_abnormal_meninges_morphology0.87583371
51MP0003705_abnormal_hypodermis_morpholog0.86612487
52MP0003566_abnormal_cell_adhesion0.85270461
53MP0002128_abnormal_blood_circulation0.83083397
54MP0000230_abnormal_systemic_arterial0.77720207
55MP0000733_abnormal_muscle_development0.77568007
56MP0005266_abnormal_metabolism0.77247832
57MP0000013_abnormal_adipose_tissue0.72233015
58MP0000767_abnormal_smooth_muscle0.69985689
59MP0001879_abnormal_lymphatic_vessel0.66513818
60MP0008438_abnormal_cutaneous_collagen0.65521631
61MP0000003_abnormal_adipose_tissue0.63963554
62MP0002909_abnormal_adrenal_gland0.63516510
63MP0005451_abnormal_body_composition0.60177972
64MP0004272_abnormal_basement_membrane0.59063000
65MP0005275_abnormal_skin_tensile0.57702968
66MP0003806_abnormal_nucleotide_metabolis0.56992699
67MP0002971_abnormal_brown_adipose0.53148290
68MP0004043_abnormal_pH_regulation0.49268068
69MP0002925_abnormal_cardiovascular_devel0.48658251
70MP0005187_abnormal_penis_morphology0.46554172
71MP0001299_abnormal_eye_distance/0.46432388
72MP0003941_abnormal_skin_development0.46114658
73MP0005319_abnormal_enzyme/_coenzyme0.45742391
74MP0002078_abnormal_glucose_homeostasis0.42247736
75MP0009384_cardiac_valve_regurgitation0.38902572
76MP0001614_abnormal_blood_vessel0.38845164
77MP0004147_increased_porphyrin_level0.38467576
78MP0003984_embryonic_growth_retardation0.38391353
79MP0001784_abnormal_fluid_regulation0.38341823
80MP0008961_abnormal_basal_metabolism0.38238002
81MP0002088_abnormal_embryonic_growth/wei0.37104308
82MP0001958_emphysema0.32877144
83MP0008004_abnormal_stomach_pH0.31462557
84MP0008569_lethality_at_weaning0.31270331
85MP0003948_abnormal_gas_homeostasis0.30357113
86MP0005409_darkened_coat_color0.29247318
87MP0005584_abnormal_enzyme/coenzyme_acti0.28916125
88MP0002638_abnormal_pupillary_reflex0.28788247
89MP0005595_abnormal_vascular_smooth0.27451783
90MP0000762_abnormal_tongue_morphology0.26203855
91MP0005535_abnormal_body_temperature0.26144666
92MP0002896_abnormal_bone_mineralization0.25814033
93MP0009840_abnormal_foam_cell0.24261308
94MP0003091_abnormal_cell_migration0.23983886
95MP0000249_abnormal_blood_vessel0.23815517
96MP0005334_abnormal_fat_pad0.23811914
97MP0005167_abnormal_blood-brain_barrier0.23586376
98MP0001727_abnormal_embryo_implantation0.22530841
99MP0008874_decreased_physiological_sensi0.22139801
100MP0009115_abnormal_fat_cell0.21865460
101MP0005503_abnormal_tendon_morphology0.21671656
102MP0003045_fibrosis0.21321116
103MP0002133_abnormal_respiratory_system0.20018806
104MP0005388_respiratory_system_phenotype0.20018806
105MP0002295_abnormal_pulmonary_circulatio0.19987006
106MP0002118_abnormal_lipid_homeostasis0.19834096
107MP0009780_abnormal_chondrocyte_physiolo0.19444723
108MP0005386_behavior/neurological_phenoty0.19005498
109MP0004924_abnormal_behavior0.19005498
110MP0002933_joint_inflammation0.18588059
111MP0002877_abnormal_melanocyte_morpholog0.18385506
112MP0009250_abnormal_appendicular_skeleto0.18273280
113MP0001672_abnormal_embryogenesis/_devel0.17786460
114MP0005380_embryogenesis_phenotype0.17786460

Predicted human phenotypes

RankGene SetZ-score
1Sudden death (HP:0001699)8.25718308
2Ventricular tachycardia (HP:0004756)6.91511756
3Calf muscle hypertrophy (HP:0008981)6.40727483
4Muscle fiber splitting (HP:0003555)6.13708273
5Atrial fibrillation (HP:0005110)6.04424058
6Exercise-induced myalgia (HP:0003738)5.93902840
7Exercise-induced muscle cramps (HP:0003710)5.91504867
8Muscle hypertrophy of the lower extremities (HP:0008968)5.89345872
9Primary atrial arrhythmia (HP:0001692)5.65467551
10Abnormality of the left ventricular outflow tract (HP:0011103)5.49054337
11Subaortic stenosis (HP:0001682)5.49054337
12Abnormality of the calf musculature (HP:0001430)5.46821078
13Supraventricular tachycardia (HP:0004755)5.46782300
14Lipoatrophy (HP:0100578)5.39774909
15Hyporeflexia of lower limbs (HP:0002600)5.38494466
16Supraventricular arrhythmia (HP:0005115)5.36682747
17Right ventricular cardiomyopathy (HP:0011663)5.15296724
18Syncope (HP:0001279)4.77994601
19Myoglobinuria (HP:0002913)4.68990775
20Bundle branch block (HP:0011710)4.51955639
21Dilated cardiomyopathy (HP:0001644)4.50736787
22EMG: myopathic abnormalities (HP:0003458)4.50437687
23Prolonged QT interval (HP:0001657)4.38494453
24Palpitations (HP:0001962)4.36325031
25Asymmetric septal hypertrophy (HP:0001670)4.25507476
26Increased connective tissue (HP:0009025)4.19471050
27Ventricular arrhythmia (HP:0004308)4.08296530
28Ventricular fibrillation (HP:0001663)3.81137059
29Heart block (HP:0012722)3.80588671
30Atrioventricular block (HP:0001678)3.77328397
31Difficulty running (HP:0009046)3.68795474
32Abnormal atrioventricular conduction (HP:0005150)3.60651538
33Rhabdomyolysis (HP:0003201)3.58788211
34Myotonia (HP:0002486)3.54713611
35Type 1 muscle fiber predominance (HP:0003803)3.42729477
36Muscle fiber inclusion bodies (HP:0100299)3.20010778
37Abnormal EKG (HP:0003115)3.15550266
38Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)3.13604735
39Difficulty climbing stairs (HP:0003551)3.10912941
40Myopathic facies (HP:0002058)3.02995243
41Left ventricular hypertrophy (HP:0001712)2.92221437
42Distal arthrogryposis (HP:0005684)2.92111157
43Round ear (HP:0100830)2.86097366
44Distal lower limb muscle weakness (HP:0009053)2.73460371
45Increased variability in muscle fiber diameter (HP:0003557)2.73290188
46Neck muscle weakness (HP:0000467)2.70396937
47Palmoplantar keratoderma (HP:0000982)2.69348972
48Abnormality of skeletal muscle fiber size (HP:0012084)2.60667675
49Hepatic necrosis (HP:0002605)2.60518886
50Limb-girdle muscle atrophy (HP:0003797)2.59815678
51Muscle stiffness (HP:0003552)2.54881855
52Areflexia of lower limbs (HP:0002522)2.54522274
53Abnormal mitochondria in muscle tissue (HP:0008316)2.54426346
54Ketoacidosis (HP:0001993)2.52624912
55Frequent falls (HP:0002359)2.51829480
56Testicular atrophy (HP:0000029)2.49897387
57Ulnar deviation of the wrist (HP:0003049)2.49768861
58Acute necrotizing encephalopathy (HP:0006965)2.48382858
59Nemaline bodies (HP:0003798)2.44617913
60Mildly elevated creatine phosphokinase (HP:0008180)2.34421121
61Hypoglycemic coma (HP:0001325)2.31650914
62Ragged-red muscle fibers (HP:0003200)2.28622853
63Hepatocellular necrosis (HP:0001404)2.24947820
64Increased muscle lipid content (HP:0009058)2.23257453
65Abnormality of the foot musculature (HP:0001436)2.22935931
66Distal lower limb amyotrophy (HP:0008944)2.19518666
67EMG: neuropathic changes (HP:0003445)2.18777938
68Bulbar palsy (HP:0001283)2.18704401
69Conjunctival hamartoma (HP:0100780)2.18468549
70Hip contracture (HP:0003273)2.17994437
71Sudden cardiac death (HP:0001645)2.15655444
72Rimmed vacuoles (HP:0003805)2.15251585
73Abnormality of fatty-acid metabolism (HP:0004359)2.14953810
74Acute encephalopathy (HP:0006846)2.12892979
75Abnormality of dicarboxylic acid metabolism (HP:0010995)2.07547868
76Dicarboxylic aciduria (HP:0003215)2.07547868
77Foot dorsiflexor weakness (HP:0009027)2.05251707
78Scapular winging (HP:0003691)2.05019146
79Mitochondrial inheritance (HP:0001427)2.04772130
80Gowers sign (HP:0003391)2.03825814
81Congestive heart failure (HP:0001635)2.03211472
82Progressive macrocephaly (HP:0004481)2.03050176
83Hypoplastic ischia (HP:0003175)2.02746055
84Muscular dystrophy (HP:0003560)2.02127138
85Generalized muscle weakness (HP:0003324)2.01622606
86Hypoplastic heart (HP:0001961)1.99804705
87Cerebral edema (HP:0002181)1.98379620
88Calcaneovalgus deformity (HP:0001848)1.97935798
89Dysmetric saccades (HP:0000641)1.97513567
90Facial diplegia (HP:0001349)1.96783132
91Abnormality of the shoulder girdle musculature (HP:0001435)1.96326877
92Spinal rigidity (HP:0003306)1.95438623
93Abnormality of the tricuspid valve (HP:0001702)1.94818269
94Increased CSF lactate (HP:0002490)1.93546064
95Increased intramyocellular lipid droplets (HP:0012240)1.92071699
96Exercise intolerance (HP:0003546)1.91485910
97Large for gestational age (HP:0001520)1.89747172
98Centrally nucleated skeletal muscle fibers (HP:0003687)1.89711898
99Steppage gait (HP:0003376)1.86506604
100Waddling gait (HP:0002515)1.86138752
101Double outlet right ventricle (HP:0001719)1.85873251
102Congenital malformation of the right heart (HP:0011723)1.85873251
103Pheochromocytoma (HP:0002666)1.85235502
104Bradycardia (HP:0001662)1.84300240
105Hamartoma of the eye (HP:0010568)1.83064917
106Ketosis (HP:0001946)1.82214583
107Absent phalangeal crease (HP:0006109)1.81308955
108Progressive muscle weakness (HP:0003323)1.80717803
109Lactic acidosis (HP:0003128)1.80191716
110Respiratory failure (HP:0002878)1.77849150
111Broad metatarsal (HP:0001783)1.77593881
112Deformed tarsal bones (HP:0008119)1.76480803
113Abnormality of the ischium (HP:0003174)1.75178919
114Weak cry (HP:0001612)1.74205477
115Hyperinsulinemic hypoglycemia (HP:0000825)1.73951485
116Hypoplastic left heart (HP:0004383)1.73745808
117Proximal amyotrophy (HP:0007126)1.73557106
118Lower limb amyotrophy (HP:0007210)1.70898004
119Respiratory insufficiency due to muscle weakness (HP:0002747)1.69911840
120Limited hip movement (HP:0008800)1.56445871
121Slender build (HP:0001533)1.55059993
122Increased serum pyruvate (HP:0003542)1.51534097
123Limb-girdle muscle weakness (HP:0003325)1.50602090
124Abnormality of the endocardium (HP:0004306)1.49673504
125Generalized amyotrophy (HP:0003700)1.49200862
126Abnormality of glycolysis (HP:0004366)1.46317123
127Malignant hyperthermia (HP:0002047)1.45950752

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TTN6.06656821
2OBSCN4.72646821
3PHKG24.03316004
4PHKG14.03316004
5LMTK23.78902300
6MYLK3.71662965
7DMPK3.28226631
8PDK43.25590172
9PDK33.25590172
10PKN23.14287218
11TRIB32.88452073
12MUSK2.49047478
13BCKDK2.30228234
14PIK3CA2.24396607
15NEK12.23767856
16TIE12.16453192
17PDK21.96287614
18STK241.94004768
19PINK11.86128932
20PAK31.38824811
21PRKD11.32478054
22GRK71.31472935
23LIMK11.29237166
24MARK11.29055608
25ILK1.26618469
26CAMK2D1.25846946
27MAP3K71.10883494
28ROCK11.09351806
29MAPK121.08338721
30MAP3K61.08141745
31CDC42BPA1.07263000
32MAPKAPK31.01567837
33RIPK10.98352076
34WNK40.97855338
35ZAK0.95592608
36STK40.94458434
37MAP2K30.93997283
38MAP3K50.93428333
39FLT30.86197477
40PRKAA10.85706626
41TRPM70.84836539
42STK38L0.84809618
43DAPK30.83055752
44INSRR0.81044536
45PKN10.79688533
46PRKAA20.78442005
47PDGFRA0.77768639
48MAP3K30.75600903
49MAPK40.74608351
50DDR20.72719247
51EPHB10.71088225
52EEF2K0.70112908
53TGFBR20.70040351
54CAMK40.67473753
55STK380.66858844
56MOS0.66366015
57ROCK20.66310931
58KDR0.63941718
59NME10.59899531
60MAP2K10.59331295
61RPS6KL10.58209549
62RPS6KC10.58209549
63PTK2B0.57516200
64WNK10.57095008
65CAMK2A0.55529108
66CAMK2B0.52505485
67KSR20.51776883
68ICK0.51708162
69RPS6KA60.50118711
70PRKACB0.50021803
71TESK10.49944975
72PIK3CG0.49846662
73CAMK10.46325241
74DYRK1B0.44670955
75MAP2K40.42049602
76PRKCE0.41972657
77AKT20.41624788
78PTK60.39326801
79SIK10.38220128
80PRKACA0.38186773
81PRKACG0.37120865
82NEK90.37060524
83PDPK10.36865546
84CAMK2G0.33636727
85EPHB20.30303954
86PRKCH0.29417708
87PRKD30.28767066
88PDK10.28336197
89FER0.27979429
90STK390.27137675
91UHMK10.26026194
92PRPF4B0.25295731
93LATS20.24759549
94MTOR0.24410658
95PAK20.24394336
96RPS6KA10.23999778
97LATS10.22826798
98MAPK100.22556054
99PRKG20.21382780
100TAOK10.20776826
101RET0.19987117
102NLK0.19539974
103ZAP700.19510434
104MARK20.19390811
105PRKG10.19337467
106SGK30.18319553
107EPHA30.18281555
108JAK10.17827202
109LRRK20.17647691
110ERBB30.16708899
111RPS6KA20.16486961
112SGK10.15352084
113MAPK110.15248760
114MAPK70.15117532
115FGFR40.15070690
116ARAF0.14909259
117SGK20.14612354
118RPS6KA30.14204554
119PTK20.13999319
120RPS6KB20.13458680
121MAP3K100.13178000
122MAP3K10.13053876
123MAPKAPK20.11327008
124MAP2K60.10501120
125NME20.10327763

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000205.81423540
2Cardiac muscle contraction_Homo sapiens_hsa042604.42897900
32-Oxocarboxylic acid metabolism_Homo sapiens_hsa012104.33229818
4Dilated cardiomyopathy_Homo sapiens_hsa054144.05634283
5Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054103.98378828
6Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.42935927
7Propanoate metabolism_Homo sapiens_hsa006403.06603947
8Parkinsons disease_Homo sapiens_hsa050122.96442342
9Oxidative phosphorylation_Homo sapiens_hsa001902.84872729
10Fatty acid degradation_Homo sapiens_hsa000712.77313151
11Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.68363830
12Carbon metabolism_Homo sapiens_hsa012002.40249526
13Alzheimers disease_Homo sapiens_hsa050102.20035531
14Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.11647822
15Fatty acid metabolism_Homo sapiens_hsa012122.08210189
16Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.02140061
17Viral myocarditis_Homo sapiens_hsa054161.93814488
18Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.86953286
19Huntingtons disease_Homo sapiens_hsa050161.80177314
20Pyruvate metabolism_Homo sapiens_hsa006201.71291968
21Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.37082679
22Butanoate metabolism_Homo sapiens_hsa006501.29578229
23Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.21451780
24Fatty acid elongation_Homo sapiens_hsa000621.16186422
25Insulin resistance_Homo sapiens_hsa049311.13062934
26Biosynthesis of amino acids_Homo sapiens_hsa012301.10517388
27Starch and sucrose metabolism_Homo sapiens_hsa005001.08410794
28PPAR signaling pathway_Homo sapiens_hsa033201.08300236
29Glucagon signaling pathway_Homo sapiens_hsa049221.06187417
30cGMP-PKG signaling pathway_Homo sapiens_hsa040221.05503444
31Adipocytokine signaling pathway_Homo sapiens_hsa049201.02249048
32Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.00720918
33Insulin signaling pathway_Homo sapiens_hsa049100.94998639
34Focal adhesion_Homo sapiens_hsa045100.83774129
35Lysine degradation_Homo sapiens_hsa003100.80918817
36Pentose phosphate pathway_Homo sapiens_hsa000300.78272863
37Tryptophan metabolism_Homo sapiens_hsa003800.77579549
38Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.77523234
39Arginine biosynthesis_Homo sapiens_hsa002200.76770036
40Calcium signaling pathway_Homo sapiens_hsa040200.75697581
41HIF-1 signaling pathway_Homo sapiens_hsa040660.74803320
42AMPK signaling pathway_Homo sapiens_hsa041520.71719463
43beta-Alanine metabolism_Homo sapiens_hsa004100.66620681
44Oxytocin signaling pathway_Homo sapiens_hsa049210.66523907
45Arginine and proline metabolism_Homo sapiens_hsa003300.66105200
46Type II diabetes mellitus_Homo sapiens_hsa049300.65926568
47Vascular smooth muscle contraction_Homo sapiens_hsa042700.65033682
48Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.64735888
49Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.64647028
50Tight junction_Homo sapiens_hsa045300.64574925
51Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.63242622
52ECM-receptor interaction_Homo sapiens_hsa045120.59215443
53Galactose metabolism_Homo sapiens_hsa000520.57528590
54Thyroid hormone signaling pathway_Homo sapiens_hsa049190.56642543
55Fatty acid biosynthesis_Homo sapiens_hsa000610.51301720
56Central carbon metabolism in cancer_Homo sapiens_hsa052300.51074673
57Phenylalanine metabolism_Homo sapiens_hsa003600.50321544
58Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.50283782
59Renin secretion_Homo sapiens_hsa049240.46247636
60cAMP signaling pathway_Homo sapiens_hsa040240.43700162
61Adherens junction_Homo sapiens_hsa045200.42932094
62Amoebiasis_Homo sapiens_hsa051460.42513491
63Longevity regulating pathway - mammal_Homo sapiens_hsa042110.42485618
64Fructose and mannose metabolism_Homo sapiens_hsa000510.42049942
65Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.41483954
66Peroxisome_Homo sapiens_hsa041460.38798235
67Insulin secretion_Homo sapiens_hsa049110.38055145
68Long-term potentiation_Homo sapiens_hsa047200.37968708
69Gastric acid secretion_Homo sapiens_hsa049710.37532367
70Melanogenesis_Homo sapiens_hsa049160.36054320
71Salivary secretion_Homo sapiens_hsa049700.35531592
72Protein digestion and absorption_Homo sapiens_hsa049740.33640165
73Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.29758083
74Prion diseases_Homo sapiens_hsa050200.29690449
75Amphetamine addiction_Homo sapiens_hsa050310.28642418
76Circadian rhythm_Homo sapiens_hsa047100.27965342
77Aldosterone synthesis and secretion_Homo sapiens_hsa049250.27219932
78Leukocyte transendothelial migration_Homo sapiens_hsa046700.26284245
79Regulation of actin cytoskeleton_Homo sapiens_hsa048100.26036615
80Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.24844920
81Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.24504958
82Sulfur relay system_Homo sapiens_hsa041220.24488043
83GABAergic synapse_Homo sapiens_hsa047270.24272312
84Renal cell carcinoma_Homo sapiens_hsa052110.23910376
85Proteoglycans in cancer_Homo sapiens_hsa052050.23739455
86Circadian entrainment_Homo sapiens_hsa047130.23354342
87Phospholipase D signaling pathway_Homo sapiens_hsa040720.22111655
88Platelet activation_Homo sapiens_hsa046110.19733441
89Morphine addiction_Homo sapiens_hsa050320.18955291
90Metabolic pathways_Homo sapiens_hsa011000.18348478
91VEGF signaling pathway_Homo sapiens_hsa043700.18261932
92Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.17384959
93Thyroid hormone synthesis_Homo sapiens_hsa049180.15924343
94Dorso-ventral axis formation_Homo sapiens_hsa043200.15912554
95GnRH signaling pathway_Homo sapiens_hsa049120.15686324
96Ovarian steroidogenesis_Homo sapiens_hsa049130.15479214
97Fat digestion and absorption_Homo sapiens_hsa049750.15404216
98Cysteine and methionine metabolism_Homo sapiens_hsa002700.15241032
99mTOR signaling pathway_Homo sapiens_hsa041500.14327069
100Glycerophospholipid metabolism_Homo sapiens_hsa005640.13717884
101Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.13496039
102Tyrosine metabolism_Homo sapiens_hsa003500.12490082
103Gap junction_Homo sapiens_hsa045400.11608585
104AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.10814622
105Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.10389112
106Pancreatic secretion_Homo sapiens_hsa049720.09670115
107Toxoplasmosis_Homo sapiens_hsa051450.09061065
108Notch signaling pathway_Homo sapiens_hsa043300.08532925
109Cholinergic synapse_Homo sapiens_hsa047250.07397586
110Small cell lung cancer_Homo sapiens_hsa052220.06067683
111Bile secretion_Homo sapiens_hsa049760.05795838
112FoxO signaling pathway_Homo sapiens_hsa040680.05246414
113MAPK signaling pathway_Homo sapiens_hsa040100.03848416
114Taste transduction_Homo sapiens_hsa047420.02737189
115PI3K-Akt signaling pathway_Homo sapiens_hsa041510.02428986
116Estrogen signaling pathway_Homo sapiens_hsa049150.01236630

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