CASQ2

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 specifies the cardiac muscle family member of the calsequestrin family. Calsequestrin is localized to the sarcoplasmic reticulum in cardiac and slow skeletal muscle cells. The protein is a calcium binding protein that stores calcium for muscle function. Mutations in this gene cause stress-induced polymorphic ventricular tachycardia, also referred to as catecholaminergic polymorphic ventricular tachycardia 2 (CPVT2), a disease characterized by bidirectional ventricular tachycardia that may lead to cardiac arrest. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1sarcomere organization (GO:0045214)8.84231541
2cardiac myofibril assembly (GO:0055003)8.73313333
3myofibril assembly (GO:0030239)7.58524243
4actin-myosin filament sliding (GO:0033275)7.25774395
5muscle filament sliding (GO:0030049)7.25774395
6* negative regulation of potassium ion transmembrane transporter activity (GO:1901017)6.97646478
7positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)6.89165851
8tricarboxylic acid cycle (GO:0006099)6.57813706
9* regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO6.52363321
10* negative regulation of potassium ion transmembrane transport (GO:1901380)6.37101425
11cardiac muscle cell development (GO:0055013)6.36886449
12regulation of relaxation of muscle (GO:1901077)6.36785458
13regulation of sarcomere organization (GO:0060297)6.29717510
14* regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)6.29133832
15* cardiac muscle contraction (GO:0060048)6.28141746
16regulation of actin filament-based movement (GO:1903115)6.19106250
17actin-mediated cell contraction (GO:0070252)6.06092247
18plasma membrane repair (GO:0001778)6.02748946
19cardiac cell development (GO:0055006)5.97799132
20ventricular cardiac muscle cell action potential (GO:0086005)5.93683548
21* regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)5.68644945
22cardiac muscle hypertrophy (GO:0003300)5.68031088
23actomyosin structure organization (GO:0031032)5.66768735
24regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)5.65896221
25bundle of His cell to Purkinje myocyte communication (GO:0086069)5.63476499
26regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)5.56133262
27regulation of skeletal muscle contraction (GO:0014819)5.53798848
28sarcoplasmic reticulum calcium ion transport (GO:0070296)5.53143931
29cardiac muscle tissue morphogenesis (GO:0055008)5.48754386
30ventricular cardiac muscle tissue morphogenesis (GO:0055010)5.39850226
31heart trabecula formation (GO:0060347)5.38266939
32striated muscle hypertrophy (GO:0014897)5.37716165
33adult heart development (GO:0007512)5.19619872
34cell communication by electrical coupling involved in cardiac conduction (GO:0086064)5.18809641
35* striated muscle contraction (GO:0006941)5.09744424
36carnitine shuttle (GO:0006853)5.09090128
37regulation of acyl-CoA biosynthetic process (GO:0050812)5.06419463
38muscle tissue morphogenesis (GO:0060415)4.92127202
39* regulation of striated muscle contraction (GO:0006942)4.86850212
40* regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)4.81009700
41regulation of the force of heart contraction (GO:0002026)4.76901600
42muscle hypertrophy (GO:0014896)4.75550539
43heart process (GO:0003015)4.69182293
44heart contraction (GO:0060047)4.69182293
45regulation of coenzyme metabolic process (GO:0051196)4.61700252
46regulation of cofactor metabolic process (GO:0051193)4.61700252
47actin filament-based movement (GO:0030048)4.57153905
48regulation of cardiac muscle cell contraction (GO:0086004)4.55526507
49fatty acid transmembrane transport (GO:1902001)4.52189151
50cell communication by electrical coupling (GO:0010644)4.50484316
51relaxation of cardiac muscle (GO:0055119)4.47013887
52response to muscle activity (GO:0014850)4.34275839
53* cell communication involved in cardiac conduction (GO:0086065)4.31846587
54neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)4.28615100
55mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.22941065
56cardiac muscle cell action potential (GO:0086001)4.22829659
57cardiac muscle cell action potential involved in contraction (GO:0086002)4.22711206
58* regulation of membrane repolarization (GO:0060306)4.19935820
59response to stimulus involved in regulation of muscle adaptation (GO:0014874)4.14721184
60cardiac muscle hypertrophy in response to stress (GO:0014898)4.13980339
61muscle hypertrophy in response to stress (GO:0003299)4.13980339
62cardiac muscle adaptation (GO:0014887)4.13980339
63* regulation of cardiac muscle contraction (GO:0055117)4.08573111
64negative regulation of protein localization to cell surface (GO:2000009)4.08193664
65membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.07648195
66regulation of cardioblast differentiation (GO:0051890)4.05442555
67negative regulation of cardiac muscle cell apoptotic process (GO:0010667)3.92395373
68positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.91522998
69energy coupled proton transport, down electrochemical gradient (GO:0015985)3.90662208
70ATP synthesis coupled proton transport (GO:0015986)3.90662208
71mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.90134319
72cellular response to epinephrine stimulus (GO:0071872)3.89361430
73* regulation of heart rate (GO:0002027)3.89114108
74ventricular cardiac muscle cell development (GO:0055015)3.86466415
75cardiac conduction (GO:0061337)3.83429867
76response to epinephrine (GO:0071871)3.83037976
77regulation of sulfur metabolic process (GO:0042762)3.82306871
78respiratory electron transport chain (GO:0022904)3.82059648
79striated muscle cell development (GO:0055002)3.81853170
80cardiac ventricle formation (GO:0003211)3.81611883
81* regulation of muscle contraction (GO:0006937)3.78467930
82regulation of ATPase activity (GO:0043462)3.77467575
83regulation of ATP catabolic process (GO:1903289)3.77467575
84carnitine transmembrane transport (GO:1902603)3.76004801
85skeletal muscle contraction (GO:0003009)3.75461588
86oxidative phosphorylation (GO:0006119)3.73932310
87regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.72732473
88muscle cell cellular homeostasis (GO:0046716)3.71496235
89electron transport chain (GO:0022900)3.70016429
90* regulation of muscle system process (GO:0090257)3.68108863
912-oxoglutarate metabolic process (GO:0006103)3.65371235
92* regulation of cell communication by electrical coupling (GO:0010649)3.64128281
93* regulation of heart contraction (GO:0008016)3.61410617
94striated muscle atrophy (GO:0014891)3.60310513
95NADH metabolic process (GO:0006734)3.56122124
96* muscle contraction (GO:0006936)3.55010793
97* regulation of calcium ion transmembrane transporter activity (GO:1901019)3.51753233
98* regulation of calcium ion transmembrane transport (GO:1903169)3.51753233
99creatine metabolic process (GO:0006600)3.51456004
100regulation of sequestering of triglyceride (GO:0010889)3.50780246
101regulation of heart rate by cardiac conduction (GO:0086091)3.50763465
102regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.50427644
103negative regulation of striated muscle cell apoptotic process (GO:0010664)3.49691169
104muscle fiber development (GO:0048747)3.47978559
105striated muscle adaptation (GO:0014888)3.46422829
106trabecula formation (GO:0060343)3.46281376
107carnitine transport (GO:0015879)3.41496688
108amino-acid betaine transport (GO:0015838)3.41496688
109* muscle system process (GO:0003012)3.38166932
110positive regulation of action potential (GO:0045760)3.36135303
111muscle adaptation (GO:0043500)3.36119206
112positive regulation of cation channel activity (GO:2001259)3.36051278
113* negative regulation of potassium ion transport (GO:0043267)3.34382504
114response to inactivity (GO:0014854)3.33315412
115cardiac chamber formation (GO:0003207)3.32406194
116positive regulation of heart rate (GO:0010460)3.31336668
117adrenergic receptor signaling pathway (GO:0071875)3.30175912
118muscle cell development (GO:0055001)3.29564006
119positive regulation of heart contraction (GO:0045823)3.28872138
120skeletal muscle tissue development (GO:0007519)3.25019251
121positive regulation of myoblast differentiation (GO:0045663)3.21910036

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1PPARG_19300518_ChIP-PET_3T3-L1_Mouse6.33179029
2EP300_21415370_ChIP-Seq_HL-1_Mouse5.36913741
3ESRRB_18555785_ChIP-Seq_MESCs_Mouse4.24073860
4* TBX20_22080862_ChIP-Seq_HEART_Mouse4.13997012
5* TBX20_22328084_ChIP-Seq_HEART_Mouse4.13997012
6RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.92221198
7TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.77942611
8MEF2A_21415370_ChIP-Seq_HL-1_Mouse3.37588519
9ESR1_20079471_ChIP-ChIP_T-47D_Human3.32821450
10ZNF263_19887448_ChIP-Seq_K562_Human3.05010569
11RARG_19884340_ChIP-ChIP_MEFs_Mouse2.70995614
12CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.68562062
13GATA4_21415370_ChIP-Seq_HL-1_Mouse2.41417465
14EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.28684400
15CDX2_19796622_ChIP-Seq_MESCs_Mouse2.25052581
16TRIM28_21343339_ChIP-Seq_HEK293_Human2.08378646
17CLOCK_20551151_ChIP-Seq_293T_Human1.96831889
18EZH2_22144423_ChIP-Seq_EOC_Human1.90629187
19TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.90244964
20NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.87375460
21NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.86267264
22PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.86227240
23VDR_22108803_ChIP-Seq_LS180_Human1.83391572
24THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.81750056
25ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.79191463
26PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.78595715
27GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.76719480
28TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.67944491
29ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.66946417
30ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.57094999
31ESR2_21235772_ChIP-Seq_MCF-7_Human1.54068501
32GATA1_22025678_ChIP-Seq_K562_Human1.53338606
33PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.45950311
34PPAR_26484153_Chip-Seq_NCI-H1993_Human1.40286601
35GATA2_21666600_ChIP-Seq_HMVEC_Human1.36420687
36NFIB_24661679_ChIP-Seq_LUNG_Mouse1.33648814
37PCGF2_27294783_Chip-Seq_NPCs_Mouse1.32711543
38GBX2_23144817_ChIP-Seq_PC3_Human1.32141527
39BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.31210193
40KDM2B_26808549_Chip-Seq_SUP-B15_Human1.31009408
41PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.29713683
42* NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.27213695
43RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.26728624
44ISL1_27105846_Chip-Seq_CPCs_Mouse1.24368414
45CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.23051313
46WT1_19549856_ChIP-ChIP_CCG9911_Human1.21845441
47GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.21689690
48NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.21271224
49CJUN_26792858_Chip-Seq_BT549_Human1.20320717
50EZH2_27294783_Chip-Seq_ESCs_Mouse1.18703744
51TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.15395516
52SMAD4_21799915_ChIP-Seq_A2780_Human1.15288433
53SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.14631035
54GATA1_19941826_ChIP-Seq_K562_Human1.13529793
55SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.12737297
56NR3C1_23031785_ChIP-Seq_PC12_Mouse1.12217632
57LXR_22158963_ChIP-Seq_LIVER_Mouse1.11101825
58DROSHA_22980978_ChIP-Seq_HELA_Human1.10732319
59CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.09409424
60CTNNB1_20460455_ChIP-Seq_HCT116_Human1.08224732
61EZH2_27304074_Chip-Seq_ESCs_Mouse1.06736937
62* SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.06466086
63PPARA_22158963_ChIP-Seq_LIVER_Mouse1.06207999
64ZNF274_21170338_ChIP-Seq_K562_Hela1.04134077
65KDM2B_26808549_Chip-Seq_DND41_Human1.02648895
66FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.02646900
67SUZ12_27294783_Chip-Seq_NPCs_Mouse1.02269729
68BCAT_22108803_ChIP-Seq_LS180_Human0.99753834
69BP1_19119308_ChIP-ChIP_Hs578T_Human0.95561803
70SMAD3_21741376_ChIP-Seq_HESCs_Human0.94424154
71TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.94331370
72KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.94009622
73* RUNX1_27514584_Chip-Seq_MCF-7_Human0.93397216
74TP63_22573176_ChIP-Seq_HFKS_Human0.93041724
75* SOX9_24532713_ChIP-Seq_HFSC_Mouse0.92967836
76ATF3_27146783_Chip-Seq_COLON_Human0.92850673
77FOXA2_19822575_ChIP-Seq_HepG2_Human0.92298965
78EZH2_27294783_Chip-Seq_NPCs_Mouse0.92041082
79ELK3_25401928_ChIP-Seq_HUVEC_Human0.91817997
80SOX2_21211035_ChIP-Seq_LN229_Gbm0.91299846
81CTCF_27219007_Chip-Seq_Bcells_Human0.90791470
82SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.90350957
83PIAS1_25552417_ChIP-Seq_VCAP_Human0.89863621
84HIF1A_21447827_ChIP-Seq_MCF-7_Human0.89800556
85NR3C1_21868756_ChIP-Seq_MCF10A_Human0.89388369
86SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.88968071
87PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.88942250
88SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.87838350
89WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.87836223
90WT1_25993318_ChIP-Seq_PODOCYTE_Human0.87322327
91NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.86793711
92NRF2_20460467_ChIP-Seq_MEFs_Mouse0.86793711
93EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.86669497
94TP53_16413492_ChIP-PET_HCT116_Human0.86207324
95EED_16625203_ChIP-ChIP_MESCs_Mouse0.86137928
96FOXO3_23340844_ChIP-Seq_DLD1_Human0.85800119
97NFE2_27457419_Chip-Seq_LIVER_Mouse0.85598630
98GF1_26923725_Chip-Seq_HPCs_Mouse0.84533790
99RACK7_27058665_Chip-Seq_MCF-7_Human0.83892324
100SMAD4_21741376_ChIP-Seq_HESCs_Human0.83649364
101PCGF2_27294783_Chip-Seq_ESCs_Mouse0.83587995
102AUTS2_25519132_ChIP-Seq_293T-REX_Human0.82747368
103GATA2_19941826_ChIP-Seq_K562_Human0.82281471
104CRX_20693478_ChIP-Seq_RETINA_Mouse0.81879168
105CBX2_27304074_Chip-Seq_ESCs_Mouse0.81742620
106LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.81513946
107ZNF217_24962896_ChIP-Seq_MCF-7_Human0.81032424
108* ZFP281_18757296_ChIP-ChIP_E14_Mouse0.80886726
109ESR1_21235772_ChIP-Seq_MCF-7_Human0.80568377
110SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.80323982
111SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.79823089
112DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.79399111
113MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.79195155
114SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.79153556
115LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.79085209
116FOXH1_21741376_ChIP-Seq_ESCs_Human0.78176427
117* SALL4_18804426_ChIP-ChIP_XEN_Mouse0.77238269
118TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.77167606
119AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.76859188
120* SMC3_22415368_ChIP-Seq_MEFs_Mouse0.76641412
121GATA1_19941827_ChIP-Seq_MEL86_Mouse0.76103603
122ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.76035102
123MTF2_20144788_ChIP-Seq_MESCs_Mouse0.75997735
124* TP53_23651856_ChIP-Seq_MEFs_Mouse0.75485943
125EZH2_18974828_ChIP-Seq_MESCs_Mouse0.75399476
126RNF2_18974828_ChIP-Seq_MESCs_Mouse0.75399476
127GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.74653108
128* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.74549832
129RXR_22158963_ChIP-Seq_LIVER_Mouse0.73265613
130AHR_22903824_ChIP-Seq_MCF-7_Human0.73243851
131ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.73019265
132STAT3_1855785_ChIP-Seq_MESCs_Mouse0.72914903
133STAT6_20620947_ChIP-Seq_CD4_POS_T_Human0.72807964
134PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.69086914
135SPI1_20517297_ChIP-Seq_HL60_Human0.68942497

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002837_dystrophic_cardiac_calcinosis6.35446757
2MP0004084_abnormal_cardiac_muscle6.13620620
3MP0000751_myopathy5.21086324
4MP0003646_muscle_fatigue4.87246373
5* MP0004215_abnormal_myocardial_fiber4.75471737
6MP0004036_abnormal_muscle_relaxation4.33367584
7MP0005330_cardiomyopathy4.10456874
8MP0000749_muscle_degeneration3.91747547
9* MP0002972_abnormal_cardiac_muscle3.17971122
10* MP0004087_abnormal_muscle_fiber3.13671330
11MP0008775_abnormal_heart_ventricle3.12881392
12MP0003137_abnormal_impulse_conducting3.05758286
13MP0000750_abnormal_muscle_regeneration2.93378550
14* MP0005620_abnormal_muscle_contractility2.71812616
15MP0005385_cardiovascular_system_phenoty2.67141632
16MP0001544_abnormal_cardiovascular_syste2.67141632
17* MP0010630_abnormal_cardiac_muscle2.65624283
18MP0002106_abnormal_muscle_physiology2.65387024
19MP0004130_abnormal_muscle_cell2.58268381
20MP0006138_congestive_heart_failure2.47935847
21MP0003828_pulmonary_edema2.45634821
22MP0004145_abnormal_muscle_electrophysio2.39898566
23* MP0004484_altered_response_of2.30537641
24MP0002269_muscular_atrophy2.27081789
25MP0005369_muscle_phenotype2.14001791
26* MP0004085_abnormal_heartbeat2.10891638
27MP0000747_muscle_weakness2.08429377
28MP0004510_myositis2.02420498
29MP0000759_abnormal_skeletal_muscle2.00153907
30MP0003221_abnormal_cardiomyocyte_apopto1.87462208
31MP0003950_abnormal_plasma_membrane1.87154691
32MP0004233_abnormal_muscle_weight1.76766942
33MP0002127_abnormal_cardiovascular_syste1.75017794
34MP0006036_abnormal_mitochondrial_physio1.59030646
35MP0003567_abnormal_fetal_cardiomyocyte1.50574362
36MP0002332_abnormal_exercise_endurance1.37454930
37MP0010368_abnormal_lymphatic_system1.28497264
38MP0003279_aneurysm1.28480256
39MP0005666_abnormal_adipose_tissue1.24825179
40* MP0000266_abnormal_heart_morphology1.18379735
41MP0005623_abnormal_meninges_morphology1.15228298
42MP0000343_altered_response_to1.15037533
43MP0002234_abnormal_pharynx_morphology1.09137321
44MP0005670_abnormal_white_adipose0.98371499
45MP0000733_abnormal_muscle_development0.97970832
46MP0004272_abnormal_basement_membrane0.97687682
47MP0001661_extended_life_span0.96921662
48MP0002108_abnormal_muscle_morphology0.95688217
49MP0006035_abnormal_mitochondrial_morpho0.95356650
50* MP0005165_increased_susceptibility_to0.93561633
51MP0003566_abnormal_cell_adhesion0.91500097
52MP0002128_abnormal_blood_circulation0.87158791
53MP0004270_analgesia0.85711085
54MP0005375_adipose_tissue_phenotype0.85524227
55MP0004185_abnormal_adipocyte_glucose0.84995840
56MP0000230_abnormal_systemic_arterial0.78941801
57MP0008438_abnormal_cutaneous_collagen0.77542604
58MP0000767_abnormal_smooth_muscle0.76657000
59MP0005266_abnormal_metabolism0.75541309
60MP0001879_abnormal_lymphatic_vessel0.73616502
61MP0009384_cardiac_valve_regurgitation0.70180553
62MP0003705_abnormal_hypodermis_morpholog0.64844622
63MP0000013_abnormal_adipose_tissue0.63964465
64MP0002971_abnormal_brown_adipose0.63941689
65MP0000003_abnormal_adipose_tissue0.58717890
66MP0004043_abnormal_pH_regulation0.58412282
67MP0005275_abnormal_skin_tensile0.56221643
68MP0002925_abnormal_cardiovascular_devel0.53199283
69MP0002909_abnormal_adrenal_gland0.49551063
70MP0004147_increased_porphyrin_level0.49233832
71MP0005187_abnormal_penis_morphology0.47114333
72MP0005451_abnormal_body_composition0.46246981
73MP0001299_abnormal_eye_distance/0.46092181
74MP0005319_abnormal_enzyme/_coenzyme0.44720975
75MP0001784_abnormal_fluid_regulation0.44085197
76MP0001614_abnormal_blood_vessel0.44051145
77MP0003984_embryonic_growth_retardation0.43307841
78MP0009780_abnormal_chondrocyte_physiolo0.42445778
79MP0002088_abnormal_embryonic_growth/wei0.42346768
80MP0008569_lethality_at_weaning0.42053343
81MP0001984_abnormal_olfaction0.41785026
82MP0002078_abnormal_glucose_homeostasis0.41771348
83MP0008004_abnormal_stomach_pH0.39209986
84MP0005503_abnormal_tendon_morphology0.35912172
85MP0003806_abnormal_nucleotide_metabolis0.35802136
86MP0008961_abnormal_basal_metabolism0.34666242
87MP0002638_abnormal_pupillary_reflex0.33774656
88MP0005595_abnormal_vascular_smooth0.33099230
89MP0003045_fibrosis0.32279153
90MP0003948_abnormal_gas_homeostasis0.31558373
91MP0009115_abnormal_fat_cell0.30311856
92MP0005377_hearing/vestibular/ear_phenot0.28464669
93MP0003878_abnormal_ear_physiology0.28464669
94MP0001958_emphysema0.28210819
95MP0005167_abnormal_blood-brain_barrier0.27514181
96MP0005334_abnormal_fat_pad0.26607165
97MP0005535_abnormal_body_temperature0.25438151
98MP0000762_abnormal_tongue_morphology0.25337394
99MP0002133_abnormal_respiratory_system0.25017022
100MP0005388_respiratory_system_phenotype0.25017022
101MP0001542_abnormal_bone_strength0.23983899
102MP0002295_abnormal_pulmonary_circulatio0.23717116
103MP0002877_abnormal_melanocyte_morpholog0.23516719
104MP0005409_darkened_coat_color0.23453415
105MP0001727_abnormal_embryo_implantation0.23424472
106MP0005386_behavior/neurological_phenoty0.23419437
107MP0004924_abnormal_behavior0.23419437
108MP0000249_abnormal_blood_vessel0.23285764
109MP0003941_abnormal_skin_development0.22651362
110MP0005380_embryogenesis_phenotype0.22029793
111MP0001672_abnormal_embryogenesis/_devel0.22029793
112MP0005376_homeostasis/metabolism_phenot0.20494214
113MP0002933_joint_inflammation0.20019277
114MP0002896_abnormal_bone_mineralization0.19323273
115MP0003195_calcinosis0.17858792
116MP0005584_abnormal_enzyme/coenzyme_acti0.16812612
117MP0006276_abnormal_autonomic_nervous0.16778427
118MP0003091_abnormal_cell_migration0.14003770

Predicted human phenotypes

RankGene SetZ-score
1* Sudden death (HP:0001699)7.54978688
2Ventricular tachycardia (HP:0004756)6.83725868
3Atrial fibrillation (HP:0005110)6.13629250
4Calf muscle hypertrophy (HP:0008981)6.01506669
5Primary atrial arrhythmia (HP:0001692)5.73595218
6Supraventricular tachycardia (HP:0004755)5.53712456
7Muscle fiber splitting (HP:0003555)5.49491613
8Supraventricular arrhythmia (HP:0005115)5.44242969
9Muscle hypertrophy of the lower extremities (HP:0008968)5.43845046
10Exercise-induced muscle cramps (HP:0003710)5.43436700
11Exercise-induced myalgia (HP:0003738)5.41454834
12Abnormality of the calf musculature (HP:0001430)5.41342052
13Right ventricular cardiomyopathy (HP:0011663)5.26413745
14Lipoatrophy (HP:0100578)5.25695271
15Subaortic stenosis (HP:0001682)4.94849416
16Abnormality of the left ventricular outflow tract (HP:0011103)4.94849416
17Hyporeflexia of lower limbs (HP:0002600)4.80329468
18Myoglobinuria (HP:0002913)4.52106870
19Bundle branch block (HP:0011710)4.48463368
20* Syncope (HP:0001279)4.47037011
21Dilated cardiomyopathy (HP:0001644)4.42870272
22Prolonged QT interval (HP:0001657)4.40929082
23Palpitations (HP:0001962)4.25457678
24EMG: myopathic abnormalities (HP:0003458)4.21532861
25Ventricular arrhythmia (HP:0004308)4.21209993
26Asymmetric septal hypertrophy (HP:0001670)3.98680053
27Heart block (HP:0012722)3.77195951
28Ventricular fibrillation (HP:0001663)3.72629593
29Increased connective tissue (HP:0009025)3.68474020
30Atrioventricular block (HP:0001678)3.67877604
31Ulnar deviation of the wrist (HP:0003049)3.64943337
32Abnormal atrioventricular conduction (HP:0005150)3.57683994
33Type 1 muscle fiber predominance (HP:0003803)3.57666329
34Difficulty running (HP:0009046)3.46133529
35Rimmed vacuoles (HP:0003805)3.43860368
36Rhabdomyolysis (HP:0003201)3.40445682
37Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)3.32516943
38Muscle fiber inclusion bodies (HP:0100299)3.19442237
39Calcaneovalgus deformity (HP:0001848)3.17963050
40Myotonia (HP:0002486)3.12882003
41Abnormal EKG (HP:0003115)3.10510084
42Difficulty climbing stairs (HP:0003551)2.96158278
43Popliteal pterygium (HP:0009756)2.91051593
44Fetal akinesia sequence (HP:0001989)2.90644745
45Left ventricular hypertrophy (HP:0001712)2.89174557
46Myopathic facies (HP:0002058)2.84341157
47Deformed tarsal bones (HP:0008119)2.81540021
48Nemaline bodies (HP:0003798)2.78930796
49Malignant hyperthermia (HP:0002047)2.77384270
50Hepatic necrosis (HP:0002605)2.76470937
51Hypoglycemic coma (HP:0001325)2.75098987
52Abnormal mitochondria in muscle tissue (HP:0008316)2.74891845
53Increased variability in muscle fiber diameter (HP:0003557)2.69592418
54Absent phalangeal crease (HP:0006109)2.69216149
55Aplasia of the musculature (HP:0100854)2.66661989
56Acute necrotizing encephalopathy (HP:0006965)2.66620071
57Abnormality of skeletal muscle fiber size (HP:0012084)2.63837284
58Neck muscle weakness (HP:0000467)2.62687189
59Bulbar palsy (HP:0001283)2.55601958
60Ketoacidosis (HP:0001993)2.53970894
61Palmoplantar keratoderma (HP:0000982)2.53439821
62Weak cry (HP:0001612)2.50890308
63Gowers sign (HP:0003391)2.47574128
64Frequent falls (HP:0002359)2.40745801
65Abnormality of the neuromuscular junction (HP:0003398)2.40252752
66Fatigable weakness (HP:0003473)2.40252752
67Mildly elevated creatine phosphokinase (HP:0008180)2.36778691
68Hypoplastic ischia (HP:0003175)2.34632686
69Foot dorsiflexor weakness (HP:0009027)2.32926462
70Abnormality of fatty-acid metabolism (HP:0004359)2.32412223
71Generalized muscle weakness (HP:0003324)2.32222462
72Type 2 muscle fiber atrophy (HP:0003554)2.31925128
73Ragged-red muscle fibers (HP:0003200)2.29584678
74Hepatocellular necrosis (HP:0001404)2.28312366
75Acute encephalopathy (HP:0006846)2.27252246
76Abnormality of dicarboxylic acid metabolism (HP:0010995)2.26891084
77Dicarboxylic aciduria (HP:0003215)2.26891084
78Limb-girdle muscle atrophy (HP:0003797)2.26718046
79Distal lower limb muscle weakness (HP:0009053)2.26229798
80Muscle stiffness (HP:0003552)2.25061174
81Progressive macrocephaly (HP:0004481)2.23201083
82Conjunctival hamartoma (HP:0100780)2.23014316
83Abnormality of alanine metabolism (HP:0010916)2.21553911
84Hyperalaninemia (HP:0003348)2.21553911
85Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.21553911
86Distal arthrogryposis (HP:0005684)2.19866901
87Abnormal finger flexion creases (HP:0006143)2.18968248
88Areflexia of lower limbs (HP:0002522)2.14414392
89EMG: neuropathic changes (HP:0003445)2.13862877
90Increased muscle lipid content (HP:0009058)2.12521557
91Cerebral edema (HP:0002181)2.11953977
92Mitochondrial inheritance (HP:0001427)2.10784239
93Scapular winging (HP:0003691)2.10416766
94Hypoplastic heart (HP:0001961)2.08586254
95Muscle fiber atrophy (HP:0100295)2.08297599
96Centrally nucleated skeletal muscle fibers (HP:0003687)2.07452924
97Increased CSF lactate (HP:0002490)2.05327994
98Abnormality of the ischium (HP:0003174)2.04516411
99Facial diplegia (HP:0001349)2.04380350
100Respiratory insufficiency due to muscle weakness (HP:0002747)2.03817822
101Abnormality of placental membranes (HP:0011409)2.03231984
102Amniotic constriction ring (HP:0009775)2.03231984
103* Sudden cardiac death (HP:0001645)2.02957940
104Steppage gait (HP:0003376)2.02516614
105Testicular atrophy (HP:0000029)2.01527068
106Pheochromocytoma (HP:0002666)2.01370045
107Congestive heart failure (HP:0001635)2.00021505
108Distal lower limb amyotrophy (HP:0008944)1.98547466
109Broad metatarsal (HP:0001783)1.97973444
110Abnormality of the shoulder girdle musculature (HP:0001435)1.96568977
111Proximal amyotrophy (HP:0007126)1.93997356
112Abnormality of the foot musculature (HP:0001436)1.91867656
113Round ear (HP:0100830)1.91619985
114Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.91031576
115Lactic acidosis (HP:0003128)1.88827957
116Exercise intolerance (HP:0003546)1.88804818
117Dysmetric saccades (HP:0000641)1.87770167
118Increased intramyocellular lipid droplets (HP:0012240)1.87233692
119Respiratory failure (HP:0002878)1.86272402
120Neoplasm of the adrenal gland (HP:0100631)1.84967252
121Abnormality of the tricuspid valve (HP:0001702)1.84391642
122Muscular dystrophy (HP:0003560)1.83466517
123Hip contracture (HP:0003273)1.82483846
124Hamartoma of the eye (HP:0010568)1.81404129
125Progressive muscle weakness (HP:0003323)1.80428399
126Large for gestational age (HP:0001520)1.78794416
127Lower limb amyotrophy (HP:0007210)1.77620420
128Neuroendocrine neoplasm (HP:0100634)1.76893355
129Abnormality of the calcaneus (HP:0008364)1.74892943
130Waddling gait (HP:0002515)1.65625116
131Easy fatigability (HP:0003388)1.64683288
132Spinal rigidity (HP:0003306)1.52881811
133Limited hip movement (HP:0008800)1.52591982
134Hypoplastic left heart (HP:0004383)1.50571006

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TTN5.18327070
2OBSCN4.32121544
3MYLK3.83405782
4PDK43.80572033
5PDK33.80572033
6LMTK23.75118731
7PKN23.60614084
8PHKG13.55964208
9PHKG23.55964208
10DMPK3.22613007
11TRIB32.93402679
12STK242.73913095
13NEK12.40402986
14MUSK2.35475807
15TIE12.34351426
16PDK22.33812164
17PIK3CA2.11702749
18BCKDK1.85729179
19GRK71.69373200
20MARK11.65377385
21PINK11.64369815
22ILK1.56122015
23PAK31.42490465
24CAMK2D1.30366089
25PRKD11.27475889
26WNK41.24311832
27ROCK11.10406942
28CDC42BPA1.10015120
29MAPK121.05287676
30MAP3K71.03578222
31FLT31.02143702
32INSRR1.00525658
33TRPM70.97526863
34PDGFRA0.94372353
35MAP3K60.91079751
36ZAK0.90419867
37MAP3K50.90322307
38RIPK10.90179752
39DAPK30.90014814
40STK40.88776803
41MAPKAPK30.88149442
42EPHA30.83814838
43CAMK40.82480056
44PRKAA10.82457745
45STK38L0.80492532
46PRKAA20.78710344
47WNK10.77964770
48STK390.77566900
49PIK3CG0.74877010
50KDR0.71640129
51ROCK20.69762258
52CAMK2A0.68443945
53CCNB10.67945680
54CAMK2B0.66588236
55MAPK40.66456191
56EEF2K0.65467705
57STK380.64910855
58TGFBR20.62159383
59PTK2B0.59522027
60CAMK10.58905761
61MAP2K30.55067461
62EPHB10.54162149
63PKN10.54095069
64NEK90.53755211
65PRKACB0.49091012
66PTK60.44917502
67PDPK10.44058598
68MAP3K30.42978611
69PRKCE0.42488820
70AKT20.41086089
71RPS6KL10.39786571
72RPS6KC10.39786571
73PRKACA0.39430321
74PRKACG0.39368987
75PDK10.39347047
76DDR20.38339102
77KSR20.38107114
78RET0.38071748
79CAMK2G0.38033827
80ICK0.37941810
81LATS10.33651903
82SIK10.33586616
83RPS6KA60.31756106
84ERBB30.30038865
85MAP3K100.29305629
86NME20.26151951
87LRRK20.25448383
88FER0.25187218
89MAPK70.24887005
90MTOR0.24426241
91ITK0.24319831
92PRKCH0.24149409
93NLK0.23679972
94EPHB20.22917238
95LIMK10.22597634
96PRKG20.22437250
97MAP2K40.22065366
98PRKG10.22012198
99PDGFRB0.21997495
100SGK20.21295284
101TESK10.21273293
102LATS20.20925956
103RPS6KA10.20873746
104MAPK100.20345402
105FGFR40.20338702
106MARK20.20147165
107PRKCQ0.18796783
108JAK10.18681666
109PRKD30.18567540
110STK110.17467619
111RPS6KA30.16467797
112MAP2K10.15522671
113PAK60.14262226
114ZAP700.14136156
115DYRK1B0.13144816
116SGK30.12651773
117MOS0.12319722
118MAPK110.11795351
119RPS6KA20.11511961
120ADRBK10.11007269
121SGK10.10772440
122PAK20.10256521
123UHMK10.10094969
124PRKCA0.09003350
125MAPK90.08929254

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000206.01029234
2Cardiac muscle contraction_Homo sapiens_hsa042604.23286538
32-Oxocarboxylic acid metabolism_Homo sapiens_hsa012104.22574805
4Dilated cardiomyopathy_Homo sapiens_hsa054143.98032702
5Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054103.84455103
6Propanoate metabolism_Homo sapiens_hsa006403.18366900
7Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.04326638
8Fatty acid degradation_Homo sapiens_hsa000713.02272254
9Parkinsons disease_Homo sapiens_hsa050122.93550745
10Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.80211960
11Oxidative phosphorylation_Homo sapiens_hsa001902.79736677
12Carbon metabolism_Homo sapiens_hsa012002.37283397
13Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.30190314
14Fatty acid metabolism_Homo sapiens_hsa012122.26331966
15Alzheimers disease_Homo sapiens_hsa050102.17830474
16Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.96950221
17Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.85423532
18Huntingtons disease_Homo sapiens_hsa050161.81123535
19Viral myocarditis_Homo sapiens_hsa054161.75570079
20Pyruvate metabolism_Homo sapiens_hsa006201.72276187
21Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.45177903
22Butanoate metabolism_Homo sapiens_hsa006501.38984118
23Fatty acid elongation_Homo sapiens_hsa000621.37196948
24Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.14485589
25cGMP-PKG signaling pathway_Homo sapiens_hsa040221.14158632
26Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.09382720
27Insulin resistance_Homo sapiens_hsa049311.07682704
28PPAR signaling pathway_Homo sapiens_hsa033201.01143992
29Biosynthesis of amino acids_Homo sapiens_hsa012301.00309862
30Glucagon signaling pathway_Homo sapiens_hsa049220.98972402
31Focal adhesion_Homo sapiens_hsa045100.95384239
32Adipocytokine signaling pathway_Homo sapiens_hsa049200.94383083
33Starch and sucrose metabolism_Homo sapiens_hsa005000.90038729
34Insulin signaling pathway_Homo sapiens_hsa049100.87053437
35Calcium signaling pathway_Homo sapiens_hsa040200.78640927
36Lysine degradation_Homo sapiens_hsa003100.77099102
37Oxytocin signaling pathway_Homo sapiens_hsa049210.75373195
38Tryptophan metabolism_Homo sapiens_hsa003800.75250574
39Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.74648231
40ECM-receptor interaction_Homo sapiens_hsa045120.74088246
41HIF-1 signaling pathway_Homo sapiens_hsa040660.73583962
42beta-Alanine metabolism_Homo sapiens_hsa004100.70394068
43Vascular smooth muscle contraction_Homo sapiens_hsa042700.70023596
44Tight junction_Homo sapiens_hsa045300.68485756
45AMPK signaling pathway_Homo sapiens_hsa041520.68206594
46Arginine biosynthesis_Homo sapiens_hsa002200.63741239
47Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.59948624
48Salivary secretion_Homo sapiens_hsa049700.59026336
49Thyroid hormone signaling pathway_Homo sapiens_hsa049190.58603643
50Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.54374270
51Type II diabetes mellitus_Homo sapiens_hsa049300.54081183
52Arginine and proline metabolism_Homo sapiens_hsa003300.53654603
53Renin secretion_Homo sapiens_hsa049240.53328353
54Adherens junction_Homo sapiens_hsa045200.52190374
55cAMP signaling pathway_Homo sapiens_hsa040240.50785222
56Central carbon metabolism in cancer_Homo sapiens_hsa052300.49537173
57Amoebiasis_Homo sapiens_hsa051460.46444287
58Gastric acid secretion_Homo sapiens_hsa049710.45882942
59Morphine addiction_Homo sapiens_hsa050320.45386101
60Pentose phosphate pathway_Homo sapiens_hsa000300.44900796
61Longevity regulating pathway - mammal_Homo sapiens_hsa042110.43536530
62Fatty acid biosynthesis_Homo sapiens_hsa000610.42325010
63GABAergic synapse_Homo sapiens_hsa047270.42101940
64Long-term potentiation_Homo sapiens_hsa047200.41638722
65Amphetamine addiction_Homo sapiens_hsa050310.40969481
66Insulin secretion_Homo sapiens_hsa049110.40001095
67Prion diseases_Homo sapiens_hsa050200.38566896
68Peroxisome_Homo sapiens_hsa041460.38514789
69Galactose metabolism_Homo sapiens_hsa000520.37325890
70Tyrosine metabolism_Homo sapiens_hsa003500.36657011
71Phenylalanine metabolism_Homo sapiens_hsa003600.36291813
72Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.34555109
73Regulation of actin cytoskeleton_Homo sapiens_hsa048100.33615833
74Leukocyte transendothelial migration_Homo sapiens_hsa046700.33379824
75Proteoglycans in cancer_Homo sapiens_hsa052050.32950314
76Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.30984402
77Melanogenesis_Homo sapiens_hsa049160.30922324
78Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.30454602
79Circadian entrainment_Homo sapiens_hsa047130.29696100
80Thyroid hormone synthesis_Homo sapiens_hsa049180.28309761
81Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.27936324
82Platelet activation_Homo sapiens_hsa046110.26778947
83Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.25326729
84Aldosterone synthesis and secretion_Homo sapiens_hsa049250.25299771
85Regulation of autophagy_Homo sapiens_hsa041400.25095960
86Dorso-ventral axis formation_Homo sapiens_hsa043200.24746368
87Renal cell carcinoma_Homo sapiens_hsa052110.24518156
88Circadian rhythm_Homo sapiens_hsa047100.24140852
89Ovarian steroidogenesis_Homo sapiens_hsa049130.23267680
90Olfactory transduction_Homo sapiens_hsa047400.19793169
91Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.18461595
92Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.18024277
93Fructose and mannose metabolism_Homo sapiens_hsa000510.17929643
94Dopaminergic synapse_Homo sapiens_hsa047280.17634860
95mTOR signaling pathway_Homo sapiens_hsa041500.17628126
96Gap junction_Homo sapiens_hsa045400.17286401
97Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.16724828
98Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.16503201
99Sulfur relay system_Homo sapiens_hsa041220.16017965
100Phospholipase D signaling pathway_Homo sapiens_hsa040720.15899225
101Linoleic acid metabolism_Homo sapiens_hsa005910.14992452
102Small cell lung cancer_Homo sapiens_hsa052220.14687281
103Metabolic pathways_Homo sapiens_hsa011000.14655178
104Pancreatic secretion_Homo sapiens_hsa049720.14059990
105Cholinergic synapse_Homo sapiens_hsa047250.13798235
106GnRH signaling pathway_Homo sapiens_hsa049120.13533438
107VEGF signaling pathway_Homo sapiens_hsa043700.12274528
108Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.11839852
109Bile secretion_Homo sapiens_hsa049760.11460461
110Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.11295252
111AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.10905894
112Toxoplasmosis_Homo sapiens_hsa051450.10734622
113PI3K-Akt signaling pathway_Homo sapiens_hsa041510.09260943
114Estrogen signaling pathway_Homo sapiens_hsa049150.08954275
115Protein digestion and absorption_Homo sapiens_hsa049740.06425173
116Fat digestion and absorption_Homo sapiens_hsa049750.06229760
117Cysteine and methionine metabolism_Homo sapiens_hsa002700.06157066
118FoxO signaling pathway_Homo sapiens_hsa040680.05820001
119Taste transduction_Homo sapiens_hsa047420.04347431
120MAPK signaling pathway_Homo sapiens_hsa040100.04012054

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