CASQ1

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 the skeletal muscle specific member of the calsequestrin protein family. Calsequestrin functions as a luminal sarcoplasmic reticulum calcium sensor in both cardiac and skeletal muscle cells. This protein, also known as calmitine, functions as a calcium regulator in the mitochondria of skeletal muscle. This protein is absent in patients with Duchenne and Becker types of muscular dystrophy. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1skeletal muscle contraction (GO:0003009)9.83353869
2sarcoplasmic reticulum calcium ion transport (GO:0070296)9.36110684
3* regulation of skeletal muscle contraction (GO:0014819)8.89410448
4actin filament-based movement (GO:0030048)8.43011160
5skeletal muscle adaptation (GO:0043501)8.09272116
6myofibril assembly (GO:0030239)7.63581321
7plasma membrane repair (GO:0001778)7.49365803
8striated muscle contraction (GO:0006941)7.30170172
9* sarcomere organization (GO:0045214)7.26473902
10positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)7.16352136
11skeletal muscle fiber development (GO:0048741)6.58396796
12cardiac myofibril assembly (GO:0055003)5.99951332
13negative regulation of potassium ion transmembrane transporter activity (GO:1901017)5.84159844
14regulation of cell communication by electrical coupling (GO:0010649)5.70542655
15cardiac muscle contraction (GO:0060048)5.68004963
16cytidine catabolic process (GO:0006216)5.65818297
17cytidine deamination (GO:0009972)5.65818297
18cytidine metabolic process (GO:0046087)5.65818297
19pyrimidine ribonucleoside catabolic process (GO:0046133)5.63153602
20myotube cell development (GO:0014904)5.61316717
21regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.59213943
22carnitine shuttle (GO:0006853)5.57816933
23muscle contraction (GO:0006936)5.56507810
24glycogen catabolic process (GO:0005980)5.54389175
25* actomyosin structure organization (GO:0031032)5.37875017
26skeletal muscle tissue regeneration (GO:0043403)5.35234886
27creatine metabolic process (GO:0006600)5.33309146
28heart contraction (GO:0060047)5.22828589
29heart process (GO:0003015)5.22828589
30glucan catabolic process (GO:0009251)5.18290388
31striated muscle adaptation (GO:0014888)5.00440718
32muscle system process (GO:0003012)4.99171268
33response to muscle activity (GO:0014850)4.98485609
34NADH metabolic process (GO:0006734)4.90866459
35regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)4.90588140
36regulation of relaxation of muscle (GO:1901077)4.90392472
37striated muscle atrophy (GO:0014891)4.89797624
38* regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)4.86516635
39negative regulation of potassium ion transmembrane transport (GO:1901380)4.85704074
40cellular polysaccharide catabolic process (GO:0044247)4.84643413
41muscle fiber development (GO:0048747)4.84514809
42cardiac muscle cell development (GO:0055013)4.70646896
43fatty acid transmembrane transport (GO:1902001)4.66124097
44polysaccharide catabolic process (GO:0000272)4.65262936
45purine nucleotide salvage (GO:0032261)4.61657655
46* skeletal muscle tissue development (GO:0007519)4.58597846
47regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)4.53696610
48tricarboxylic acid cycle (GO:0006099)4.50986189
49regulation of acyl-CoA biosynthetic process (GO:0050812)4.44799071
50glycogen biosynthetic process (GO:0005978)4.43608389
51glucan biosynthetic process (GO:0009250)4.43608389
52cardiac cell development (GO:0055006)4.42442734
53cardiac muscle tissue morphogenesis (GO:0055008)4.31219020
54striated muscle cell development (GO:0055002)4.24291406
55negative regulation of skeletal muscle tissue development (GO:0048642)4.23180900
56muscle atrophy (GO:0014889)4.22050023
57IMP metabolic process (GO:0046040)4.21800095
58fructose metabolic process (GO:0006000)4.21572410
59muscle tissue morphogenesis (GO:0060415)4.20979568
60muscle cell fate commitment (GO:0042693)4.16589425
61striated muscle hypertrophy (GO:0014897)4.12459417
62regulation of actin filament-based movement (GO:1903115)4.11091062
63carnitine transmembrane transport (GO:1902603)4.10692024
64regulation of coenzyme metabolic process (GO:0051196)4.08664351
65regulation of cofactor metabolic process (GO:0051193)4.08664351
66muscle adaptation (GO:0043500)4.05954835
67positive regulation of mitochondrial calcium ion concentration (GO:0051561)4.05670933
682-oxoglutarate metabolic process (GO:0006103)4.04685937
69muscle organ morphogenesis (GO:0048644)4.03584743
70cardiac muscle hypertrophy (GO:0003300)4.03030587
71regulation of skeletal muscle cell differentiation (GO:2001014)3.95845404
72negative regulation of muscle hypertrophy (GO:0014741)3.94552296
73gluconeogenesis (GO:0006094)3.91518566
74regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.83159598
75muscle cell cellular homeostasis (GO:0046716)3.82014992
76glycogen metabolic process (GO:0005977)3.81928478
77cellular glucan metabolic process (GO:0006073)3.74049573
78glucan metabolic process (GO:0044042)3.74049573
79carnitine transport (GO:0015879)3.73744108
80amino-acid betaine transport (GO:0015838)3.73744108
81myoblast fusion (GO:0007520)3.72785418
82adult heart development (GO:0007512)3.69993226
83negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.69671755
84negative regulation of calcium ion transmembrane transport (GO:1903170)3.69671755
85* regulation of striated muscle contraction (GO:0006942)3.67853689
86* response to stimulus involved in regulation of muscle adaptation (GO:0014874)3.62976283
87muscle hypertrophy (GO:0014896)3.62932412
88muscle cell development (GO:0055001)3.62842976
89regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.59580655
90muscle organ development (GO:0007517)3.58626253
91neuronal action potential propagation (GO:0019227)3.56328722
92regulation of sarcomere organization (GO:0060297)3.55046798
93muscle structure development (GO:0061061)3.54790377
94negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)3.52796190
95regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.52198534
96hexose biosynthetic process (GO:0019319)3.49022389
97cardiac muscle hypertrophy in response to stress (GO:0014898)3.48583151
98positive regulation of myotube differentiation (GO:0010831)3.47829109
99negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.47613996
100regulation of myoblast differentiation (GO:0045661)3.47523446
101negative regulation of muscle contraction (GO:0045932)3.46518540
102negative regulation of protein localization to cell surface (GO:2000009)3.45304433
103regulation of calcium ion transmembrane transporter activity (GO:1901019)3.44149186
104regulation of calcium ion transmembrane transport (GO:1903169)3.44149186
105response to activity (GO:0014823)3.41403589
106positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.41189873
107oxidative phosphorylation (GO:0006119)3.34836243
108regulation of membrane repolarization (GO:0060306)3.33826131
109mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.33136364
110IMP biosynthetic process (GO:0006188)3.32817794
111relaxation of muscle (GO:0090075)3.32274218
112cellular carbohydrate catabolic process (GO:0044275)3.29837076
113positive regulation of cation channel activity (GO:2001259)3.29066024
114regulation of the force of heart contraction (GO:0002026)3.28566456
115syncytium formation by plasma membrane fusion (GO:0000768)3.25610537
116regulation of sulfur metabolic process (GO:0042762)3.24901867
117myotube differentiation (GO:0014902)3.22216464
118positive regulation of myoblast differentiation (GO:0045663)3.18597864
119cardiac muscle adaptation (GO:0014887)3.18205885
120muscle hypertrophy in response to stress (GO:0003299)3.18205885
121actin-myosin filament sliding (GO:0033275)13.7077523
122muscle filament sliding (GO:0030049)13.7077523
123actin-mediated cell contraction (GO:0070252)11.3004123

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1PPARG_19300518_ChIP-PET_3T3-L1_Mouse5.70566139
2ESR1_20079471_ChIP-ChIP_T-47D_Human4.21289622
3ESRRB_18555785_ChIP-Seq_MESCs_Mouse4.08045543
4TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.60079998
5TBX20_22080862_ChIP-Seq_HEART_Mouse3.42461775
6TBX20_22328084_ChIP-Seq_HEART_Mouse3.42461775
7EP300_21415370_ChIP-Seq_HL-1_Mouse3.29666818
8MEF2A_21415370_ChIP-Seq_HL-1_Mouse3.06605187
9CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human3.04520560
10TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.81343430
11BCL3_23251550_ChIP-Seq_MUSCLE_Mouse2.75070628
12CDX2_19796622_ChIP-Seq_MESCs_Mouse2.60702995
13RARG_19884340_ChIP-ChIP_MEFs_Mouse2.51619681
14ZNF263_19887448_ChIP-Seq_K562_Human2.34970851
15PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.32163013
16GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.25566244
17GATA4_21415370_ChIP-Seq_HL-1_Mouse2.06787126
18ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.93465837
19* PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.85081923
20CTCF_27219007_Chip-Seq_Bcells_Human1.72065910
21ZNF274_21170338_ChIP-Seq_K562_Hela1.71231986
22NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.71044161
23EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.70919403
24BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.69489173
25NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.69350019
26SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.66642109
27RBPJ_22232070_ChIP-Seq_NCS_Mouse1.61609436
28TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.61439329
29RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.60676912
30ESR1_21235772_ChIP-Seq_MCF-7_Human1.57331402
31* CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.54896684
32EZH2_22144423_ChIP-Seq_EOC_Human1.54673480
33THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.51800808
34* CTCF_21964334_ChIP-Seq_BJAB-B_Human1.47804823
35CLOCK_20551151_ChIP-Seq_293T_Human1.46292070
36ESR2_21235772_ChIP-Seq_MCF-7_Human1.41976958
37* EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.41305106
38TDRD3_21172665_ChIP-Seq_MCF-7_Human1.39662276
39FOXH1_21741376_ChIP-Seq_ESCs_Human1.38910893
40OCT4_20526341_ChIP-Seq_ESCs_Human1.38308917
41AR_21572438_ChIP-Seq_LNCaP_Human1.37350716
42TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.36645202
43HIF1A_21447827_ChIP-Seq_MCF-7_Human1.33209417
44IGF1R_20145208_ChIP-Seq_DFB_Human1.31779960
45ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.29769176
46YY1_22570637_ChIP-Seq_MALME-3M_Human1.29489832
47GATA1_22025678_ChIP-Seq_K562_Human1.26753861
48RARB_27405468_Chip-Seq_BRAIN_Mouse1.26407361
49P63_26484246_Chip-Seq_KERATINOCYTES_Human1.24991453
50* SMC3_22415368_ChIP-Seq_MEFs_Mouse1.20242988
51RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.20182926
52TP63_17297297_ChIP-ChIP_HaCaT_Human1.19910635
53DNAJC2_21179169_ChIP-ChIP_NT2_Human1.19041059
54CBX2_27304074_Chip-Seq_ESCs_Mouse1.18698547
55SUZ12_27294783_Chip-Seq_NPCs_Mouse1.14617390
56ZFP281_18757296_ChIP-ChIP_E14_Mouse1.14545423
57KDM2B_26808549_Chip-Seq_DND41_Human1.13091651
58STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.10903358
59E2F1_20622854_ChIP-Seq_HELA_Human1.10185659
60* SA1_27219007_Chip-Seq_Bcells_Human1.08778144
61AUTS2_25519132_ChIP-Seq_293T-REX_Human1.07392043
62SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.07250602
63* SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.07130897
64EZH2_27294783_Chip-Seq_NPCs_Mouse1.07023313
65PPARA_22158963_ChIP-Seq_LIVER_Mouse1.06841928
66* CRX_20693478_ChIP-Seq_RETINA_Mouse1.05786781
67* CTCF_21964334_Chip-Seq_Bcells_Human1.05594117
68PCGF2_27294783_Chip-Seq_ESCs_Mouse1.05288216
69SPI1_20517297_ChIP-Seq_HL60_Human1.04684756
70E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.04087890
71* SMC1_22415368_ChIP-Seq_MEFs_Mouse1.03917785
72UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.03365158
73ISL1_27105846_Chip-Seq_CPCs_Mouse1.02986732
74EZH2_27294783_Chip-Seq_ESCs_Mouse1.02741305
75RACK7_27058665_Chip-Seq_MCF-7_Human1.02230480
76TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.01066972
77GBX2_23144817_ChIP-Seq_PC3_Human1.00601048
78* TP63_22573176_ChIP-Seq_HFKS_Human1.00566305
79P53_22127205_ChIP-Seq_FIBROBLAST_Human1.00264533
80STAT1_20625510_ChIP-Seq_HELA_Human1.00111204
81CJUN_26792858_Chip-Seq_BT549_Human0.99181070
82* NANOG_20526341_ChIP-Seq_ESCs_Human0.97660037
83RAC3_21632823_ChIP-Seq_H3396_Human0.96914871
84GATA1_19941827_ChIP-Seq_MEL_Mouse0.95646233
85LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.95621710
86* CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.95597656
87FLI1_27457419_Chip-Seq_LIVER_Mouse0.95113935
88* OCT4_21477851_ChIP-Seq_ESCs_Mouse0.94148747
89P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.94106879
90RXR_22158963_ChIP-Seq_LIVER_Mouse0.93542672
91TRIM28_21343339_ChIP-Seq_HEK293_Human0.93020550
92ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.92472966
93P68_20966046_ChIP-Seq_HELA_Human0.92240389
94KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.90842781
95DROSHA_22980978_ChIP-Seq_HELA_Human0.90145804
96BCL6_27268052_Chip-Seq_Bcells_Human0.90145664
97MTF2_20144788_ChIP-Seq_MESCs_Mouse0.90143954
98ELF1_20517297_ChIP-Seq_JURKAT_Human0.89583165
99SOX2_21211035_ChIP-Seq_LN229_Gbm0.88987057
100NRF2_20460467_ChIP-Seq_MEFs_Mouse0.88688721
101NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.88688721
102CBP_20019798_ChIP-Seq_JUKART_Human0.88304859
103IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.88304859
104* MYC_27129775_Chip-Seq_CORNEA_Mouse0.88248902
105NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.88246907
106PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.87687209
107CEBPB_22108803_ChIP-Seq_LS180_Human0.86360063
108CBP_21632823_ChIP-Seq_H3396_Human0.86211432
109HTT_18923047_ChIP-ChIP_STHdh_Human0.85304419
110CSB_26484114_Chip-Seq_FIBROBLAST_Human0.84955103
111FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.83903352
112PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.83501918
113LXR_22158963_ChIP-Seq_LIVER_Mouse0.82608458
114ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.82602024
115MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.82513971
116* EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.82321462
117TP53_20018659_ChIP-ChIP_R1E_Mouse0.82183214
118DPY_21335234_ChIP-Seq_ESCs_Mouse0.81881995
119LUZP1_20508642_ChIP-Seq_ESCs_Mouse0.81772205
120GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.81691661
121ER_23166858_ChIP-Seq_MCF-7_Human0.80783989
122NFIB_24661679_ChIP-Seq_LUNG_Mouse0.80736972
123EGR1_19032775_ChIP-ChIP_M12_Human0.80602054
124* GATA6_21074721_ChIP-Seq_CACO-2_Human0.80547747
125NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.80154629
126CTCF_27219007_Chip-Seq_ERYTHROID_Human0.79411726
127AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.79052865
128* PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.79026950
129SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.78912519
130JARID2_20075857_ChIP-Seq_MESCs_Mouse0.78681282
131KLF5_20875108_ChIP-Seq_MESCs_Mouse0.78422725
132OCT4_19829295_ChIP-Seq_ESCs_Human0.78251516
133GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse0.78138212
134MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.77780965
135LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.77630159
136EZH2_27304074_Chip-Seq_ESCs_Mouse0.76906589
137GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.76571792
138CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.76289917
139ERG_21242973_ChIP-ChIP_JURKAT_Human0.75189803
140* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.74381852
141RAD21_21589869_ChIP-Seq_MESCs_Mouse0.74194096

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000749_muscle_degeneration6.81255116
2MP0003646_muscle_fatigue6.11297862
3MP0000751_myopathy5.81596407
4* MP0004145_abnormal_muscle_electrophysio5.72916008
5MP0002837_dystrophic_cardiac_calcinosis4.43784259
6MP0000747_muscle_weakness4.22337541
7* MP0004036_abnormal_muscle_relaxation4.12762526
8* MP0002106_abnormal_muscle_physiology3.99716686
9* MP0004087_abnormal_muscle_fiber3.58182504
10* MP0000759_abnormal_skeletal_muscle3.52990969
11MP0004084_abnormal_cardiac_muscle3.45222583
12* MP0005620_abnormal_muscle_contractility3.31531742
13* MP0005369_muscle_phenotype3.31207424
14MP0000750_abnormal_muscle_regeneration3.28212257
15* MP0002269_muscular_atrophy3.26273817
16MP0004130_abnormal_muscle_cell2.90959269
17MP0005330_cardiomyopathy2.75332399
18MP0004233_abnormal_muscle_weight2.64190527
19MP0004215_abnormal_myocardial_fiber2.30871241
20MP0002332_abnormal_exercise_endurance2.13975419
21MP0002972_abnormal_cardiac_muscle2.13213204
22MP0006036_abnormal_mitochondrial_physio2.02196530
23MP0000733_abnormal_muscle_development2.00608673
24MP0002108_abnormal_muscle_morphology1.82349264
25MP0010630_abnormal_cardiac_muscle1.82294875
26MP0003221_abnormal_cardiomyocyte_apopto1.67772305
27MP0003950_abnormal_plasma_membrane1.65431132
28MP0004484_altered_response_of1.58502617
29MP0001544_abnormal_cardiovascular_syste1.50283232
30MP0005385_cardiovascular_system_phenoty1.50283232
31MP0003137_abnormal_impulse_conducting1.43336563
32MP0004185_abnormal_adipocyte_glucose1.42254475
33MP0003806_abnormal_nucleotide_metabolis1.38028616
34MP0008775_abnormal_heart_ventricle1.34941908
35MP0005666_abnormal_adipose_tissue1.25982318
36MP0002971_abnormal_brown_adipose1.19178250
37MP0006138_congestive_heart_failure1.11211321
38MP0002127_abnormal_cardiovascular_syste1.10678694
39MP0001661_extended_life_span1.07795035
40MP0006035_abnormal_mitochondrial_morpho1.05483424
41MP0005266_abnormal_metabolism1.04684478
42MP0002822_catalepsy1.02203042
43MP0004510_myositis1.01112340
44MP0003828_pulmonary_edema0.97930560
45MP0004085_abnormal_heartbeat0.92723635
46MP0005275_abnormal_skin_tensile0.91459977
47MP0004270_analgesia0.90717291
48MP0005375_adipose_tissue_phenotype0.88246461
49MP0003705_abnormal_hypodermis_morpholog0.86563773
50MP0002234_abnormal_pharynx_morphology0.83730528
51MP0000266_abnormal_heart_morphology0.80449213
52MP0009780_abnormal_chondrocyte_physiolo0.79477219
53MP0005451_abnormal_body_composition0.75349296
54MP0003567_abnormal_fetal_cardiomyocyte0.74530281
55MP0000013_abnormal_adipose_tissue0.73759914
56MP0004134_abnormal_chest_morphology0.73633406
57MP0000762_abnormal_tongue_morphology0.67806366
58MP0003879_abnormal_hair_cell0.66398616
59MP0000343_altered_response_to0.65306871
60MP0009250_abnormal_appendicular_skeleto0.64875285
61MP0000372_irregular_coat_pigmentation0.64329970
62MP0005670_abnormal_white_adipose0.59831276
63MP0004043_abnormal_pH_regulation0.58433453
64MP0004147_increased_porphyrin_level0.56329586
65MP0001299_abnormal_eye_distance/0.55086307
66MP0003656_abnormal_erythrocyte_physiolo0.48608893
67MP0002078_abnormal_glucose_homeostasis0.47723614
68MP0000230_abnormal_systemic_arterial0.47206599
69MP0010030_abnormal_orbit_morphology0.46880725
70MP0005503_abnormal_tendon_morphology0.46493077
71MP0005167_abnormal_blood-brain_barrier0.44619083
72MP0008961_abnormal_basal_metabolism0.44255364
73MP0002638_abnormal_pupillary_reflex0.44145270
74MP0005334_abnormal_fat_pad0.43567432
75MP0001346_abnormal_lacrimal_gland0.42586956
76MP0002128_abnormal_blood_circulation0.41639514
77MP0000003_abnormal_adipose_tissue0.41554496
78MP0005452_abnormal_adipose_tissue0.41548517
79MP0003948_abnormal_gas_homeostasis0.41257975
80MP0002734_abnormal_mechanical_nocicepti0.40067173
81MP0009672_abnormal_birth_weight0.39263215
82MP0005166_decreased_susceptibility_to0.37430450
83MP0005423_abnormal_somatic_nervous0.36289155
84MP0005535_abnormal_body_temperature0.36241260
85MP0008569_lethality_at_weaning0.35760128
86MP0008438_abnormal_cutaneous_collagen0.35504793
87MP0005584_abnormal_enzyme/coenzyme_acti0.33173760
88MP0002896_abnormal_bone_mineralization0.33082439
89MP0002114_abnormal_axial_skeleton0.31918676
90MP0003959_abnormal_lean_body0.31425395
91MP0005319_abnormal_enzyme/_coenzyme0.31110482
92MP0002089_abnormal_postnatal_growth/wei0.30307016
93MP0003385_abnormal_body_wall0.29335892
94MP0003566_abnormal_cell_adhesion0.28571582
95MP0004272_abnormal_basement_membrane0.28114528
96MP0006276_abnormal_autonomic_nervous0.27937406
97MP0002925_abnormal_cardiovascular_devel0.26659911
98MP0009115_abnormal_fat_cell0.25891336
99MP0005376_homeostasis/metabolism_phenot0.25200253
100MP0005083_abnormal_biliary_tract0.25125896
101MP0002066_abnormal_motor_capabilities/c0.24963110
102MP0005332_abnormal_amino_acid0.24075214
103MP0000579_abnormal_nail_morphology0.24046289
104MP0005165_increased_susceptibility_to0.23766804
105MP0005187_abnormal_penis_morphology0.23761633
106MP0003941_abnormal_skin_development0.23692315
107MP0001784_abnormal_fluid_regulation0.22012641
108MP0002249_abnormal_larynx_morphology0.20526202
109MP0003045_fibrosis0.20228190
110MP0004858_abnormal_nervous_system0.19661706
111MP0004197_abnormal_fetal_growth/weight/0.18628983
112MP0008770_decreased_survivor_rate0.18256134
113MP0002067_abnormal_sensory_capabilities0.18075169
114MP0001243_abnormal_dermal_layer0.17274238
115MP0001943_abnormal_respiration0.17273718
116MP0004142_abnormal_muscle_tone0.17240385
117MP0001614_abnormal_blood_vessel0.17136719
118MP0002796_impaired_skin_barrier0.16132806
119MP0003279_aneurysm0.15961936
120MP0005645_abnormal_hypothalamus_physiol0.13294945
121MP0004924_abnormal_behavior0.12554848

Predicted human phenotypes

RankGene SetZ-score
1Muscle fiber inclusion bodies (HP:0100299)9.24575396
2Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)8.91320770
3Exercise-induced myalgia (HP:0003738)8.74488769
4Nemaline bodies (HP:0003798)8.47927548
5Exercise-induced muscle cramps (HP:0003710)8.33697605
6Type 1 muscle fiber predominance (HP:0003803)7.34852220
7Muscle hypertrophy of the lower extremities (HP:0008968)7.24512811
8Distal arthrogryposis (HP:0005684)6.79187209
9Calf muscle hypertrophy (HP:0008981)6.74996875
10Myopathic facies (HP:0002058)6.10431079
11Round ear (HP:0100830)5.73551203
12Ulnar deviation of the wrist (HP:0003049)5.45849835
13Muscle fiber splitting (HP:0003555)5.37013338
14Myoglobinuria (HP:0002913)5.24744277
15Hyporeflexia of lower limbs (HP:0002600)5.12416425
16Difficulty running (HP:0009046)5.08203704
17EMG: myopathic abnormalities (HP:0003458)4.86220910
18Calcaneovalgus deformity (HP:0001848)4.75241772
19Abnormality of the calf musculature (HP:0001430)4.64842848
20Muscle stiffness (HP:0003552)4.50248788
21Rhabdomyolysis (HP:0003201)4.44835632
22Absent phalangeal crease (HP:0006109)4.42085660
23Deformed tarsal bones (HP:0008119)4.36403306
24Abnormality of the left ventricular outflow tract (HP:0011103)4.31488151
25Subaortic stenosis (HP:0001682)4.31488151
26Increased connective tissue (HP:0009025)4.29843089
27Myotonia (HP:0002486)4.08742815
28Sudden death (HP:0001699)3.96346378
29Neck muscle weakness (HP:0000467)3.73478686
30Abnormality of skeletal muscle fiber size (HP:0012084)3.72398223
31Abnormal finger flexion creases (HP:0006143)3.68067268
32Rimmed vacuoles (HP:0003805)3.50688283
33Increased variability in muscle fiber diameter (HP:0003557)3.29882182
34Malignant hyperthermia (HP:0002047)3.23528155
35Asymmetric septal hypertrophy (HP:0001670)3.22443401
36Difficulty climbing stairs (HP:0003551)3.19647506
37Areflexia of lower limbs (HP:0002522)3.15017708
38Frequent falls (HP:0002359)2.98563744
39Ventricular tachycardia (HP:0004756)2.95609457
40Abnormality of the calcaneus (HP:0008364)2.85815571
41Distal lower limb muscle weakness (HP:0009053)2.69912484
42Shoulder girdle muscle weakness (HP:0003547)2.69076128
43Centrally nucleated skeletal muscle fibers (HP:0003687)2.68769277
44Pelvic girdle muscle weakness (HP:0003749)2.66271270
45EMG: neuropathic changes (HP:0003445)2.64586176
46Abnormality of the hip-girdle musculature (HP:0001445)2.61622155
47Abnormality of the musculature of the pelvis (HP:0001469)2.61622155
48Slender build (HP:0001533)2.60812930
49Hyperkalemia (HP:0002153)2.51953180
50Lipoatrophy (HP:0100578)2.51150834
51Mildly elevated creatine phosphokinase (HP:0008180)2.47801153
52Generalized muscle weakness (HP:0003324)2.47435508
53Fatigable weakness (HP:0003473)2.40153617
54Abnormality of the neuromuscular junction (HP:0003398)2.40153617
55Muscular dystrophy (HP:0003560)2.39283912
56Spinal rigidity (HP:0003306)2.26562716
57Paralysis (HP:0003470)2.24986010
58Hypoplastic ischia (HP:0003175)2.19578684
59Dilated cardiomyopathy (HP:0001644)2.19414603
60Bulbar palsy (HP:0001283)2.15797367
61Gowers sign (HP:0003391)2.13511910
62Proximal amyotrophy (HP:0007126)2.13004797
63Limb-girdle muscle weakness (HP:0003325)2.12748681
64Scapular winging (HP:0003691)2.07876861
65Weak cry (HP:0001612)2.02884292
66Facial diplegia (HP:0001349)2.02119348
67Abnormality of the shoulder girdle musculature (HP:0001435)2.01883319
68Limb-girdle muscle atrophy (HP:0003797)1.96246968
69Progressive muscle weakness (HP:0003323)1.93518879
70Popliteal pterygium (HP:0009756)1.92252976
71Abnormality of the ischium (HP:0003174)1.91592072
72Long clavicles (HP:0000890)1.89844334
73Lower limb amyotrophy (HP:0007210)1.89657239
74Nonprogressive disorder (HP:0003680)1.88385420
75Atrial fibrillation (HP:0005110)1.87884122
76Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.86976048
77Metatarsus adductus (HP:0001840)1.84146724
78Right ventricular cardiomyopathy (HP:0011663)1.81984946
79Exercise intolerance (HP:0003546)1.81610463
80Distal lower limb amyotrophy (HP:0008944)1.79122264
81Ventricular arrhythmia (HP:0004308)1.77709526
82Hip contracture (HP:0003273)1.77663138
83Ulnar deviation of finger (HP:0009465)1.77434401
84Primary atrial arrhythmia (HP:0001692)1.73024683
85Waddling gait (HP:0002515)1.70983102
86Abnormal atrioventricular conduction (HP:0005150)1.70899048
87Palpitations (HP:0001962)1.70325460
88Fetal akinesia sequence (HP:0001989)1.70150068
89Supraventricular tachycardia (HP:0004755)1.66854983
90Prolonged QT interval (HP:0001657)1.65133523
91Ragged-red muscle fibers (HP:0003200)1.64270975
92Bundle branch block (HP:0011710)1.63638042
93Type 2 muscle fiber atrophy (HP:0003554)1.63334208
94Supraventricular arrhythmia (HP:0005115)1.62909373
95Abnormality of the foot musculature (HP:0001436)1.61270453
96Foot dorsiflexor weakness (HP:0009027)1.60139922
97Cholelithiasis (HP:0001081)1.58404921
98Respiratory insufficiency due to muscle weakness (HP:0002747)1.57808509
99Limited hip movement (HP:0008800)1.57039488
100Tarsal synostosis (HP:0008368)1.53506425
101Muscle fiber atrophy (HP:0100295)1.49764625
102Abnormal mitochondria in muscle tissue (HP:0008316)1.47070454
103Acute necrotizing encephalopathy (HP:0006965)1.46422710
104Oligomenorrhea (HP:0000876)1.45591938
105Increased intramyocellular lipid droplets (HP:0012240)1.45284759
106Achilles tendon contracture (HP:0001771)1.43116683
107Ulnar deviation of the hand or of fingers of the hand (HP:0001193)1.42272583
108Left ventricular hypertrophy (HP:0001712)1.42121377
109Increased density of long bones (HP:0006392)1.42053473
110Heart block (HP:0012722)1.41881001
111Breech presentation (HP:0001623)1.40994103
112Abnormality of placental membranes (HP:0011409)1.40027382
113Amniotic constriction ring (HP:0009775)1.40027382
114Adducted thumb (HP:0001181)1.35508512
115Increased muscle lipid content (HP:0009058)1.33680087
116Steppage gait (HP:0003376)1.31716125
117Congenital hip dislocation (HP:0001374)1.24524931

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN9.66753091
2TTN5.94723243
3PHKG25.11099690
4PHKG15.11099690
5NME13.60346622
6PIK3CG3.36381725
7MAP2K32.61084634
8NEK12.31727840
9PIK3CA2.19931099
10PDK41.98065791
11PDK31.98065791
12DMPK1.95721590
13BCKDK1.87425629
14PINK11.85843390
15MAP3K71.82179773
16STK241.66960154
17TRIB31.61240627
18MUSK1.59234950
19MAPK121.51259828
20MAP2K41.34173381
21ZAK1.26630795
22PDK21.25540214
23MYLK1.23423010
24MAP2K61.20130575
25EEF2K1.12105518
26PKN21.05411253
27MARK11.02922575
28TRPM70.93273633
29MAP3K30.90739602
30PRKAA20.81859353
31PRKAA10.78198150
32ILK0.76223691
33MAPKAPK30.74745935
34LIMK10.74672520
35DYRK1B0.69781525
36MAP3K130.64043476
37TAOK20.63440887
38CAMK40.59911150
39STK38L0.59550845
40NEK90.57967556
41CAMK2G0.53511722
42AKT20.53115280
43MAPK110.51395685
44MAP3K50.49954173
45ERBB30.47501930
46MAP3K110.46883277
47ROCK10.46376625
48PKN10.45715828
49TIE10.44825091
50RIPK10.43717519
51CAMK2B0.41470914
52PRKACB0.36931137
53PRKD10.36122751
54SIK10.35644331
55PRKG10.34168582
56CAMK2D0.32288789
57MAPK130.32239586
58TAOK10.32215258
59SGK20.31296331
60CDC42BPA0.29913801
61EPHB10.27705400
62TBK10.26160139
63RPS6KB10.26154210
64PTK2B0.25328749
65PRKACA0.24635405
66PRKD30.24312830
67SGK10.24268083
68MAP3K60.23816489
69MAP3K100.23127440
70RPS6KB20.21105433
71RPS6KA30.20568561
72PAK30.20392198
73CDK190.20386846
74PTK60.20235252
75LMTK20.18691078
76MARK20.18594886
77FGFR10.17621358
78DAPK20.17616216
79ROCK20.16934074
80MAPK70.16175750
81INSRR0.16052710
82ARAF0.15941592
83PRPF4B0.14372595
84MAP2K10.14064697
85SGK4940.13405977
86SGK2230.13405977
87MAPK40.12271827
88RPS6KL10.11194029
89RPS6KC10.11194029
90MAP3K10.11066384
91FLT30.10680620
92PDPK10.10333643
93LATS10.10301587
94WNK10.10298365
95STK110.10201987
96RAF10.09952893
97KSR20.09081160
98MARK30.08928003
99RPS6KA10.08801392
100FER0.08425497
101RPS6KA60.07929084
102PRKACG0.07896801
103PDK10.07895963
104CAMK2A0.07853083
105ICK0.07689479
106ZAP700.07129500
107DAPK30.06837130
108CCNB10.06026419
109PAK60.05744457
110LATS20.05717664
111TGFBR20.05570648
112PAK20.05475294
113NLK0.05062130
114CAMK10.04428572
115MTOR0.03730964
116KSR10.03542598
117STK30.03130744
118GSK3B0.02596230
119EPHB20.02397139
120MAPKAPK20.02252049
121MAPK90.02218417
122MAPK80.02144416
123TNK20.02073129
124MOS0.01993447
125BRAF0.01869821
126MAP2K20.01639535
127PRKDC0.00597512
128CSNK1D0.00358542
129RPS6KA20.00119933
130PRKCH-0.0109074
131MAPK10-0.0102129
132GSK3A-0.0062562
133SGK3-0.0010587

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000204.94941398
2Cardiac muscle contraction_Homo sapiens_hsa042604.81141077
3Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054104.62451664
4Dilated cardiomyopathy_Homo sapiens_hsa054143.93776847
52-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.54893889
6Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054123.44020255
7Parkinsons disease_Homo sapiens_hsa050122.74941564
8Oxidative phosphorylation_Homo sapiens_hsa001902.49886287
9Propanoate metabolism_Homo sapiens_hsa006402.45422215
10Carbon metabolism_Homo sapiens_hsa012002.43445384
11Starch and sucrose metabolism_Homo sapiens_hsa005002.40022547
12Glycolysis / Gluconeogenesis_Homo sapiens_hsa000102.21117629
13Alzheimers disease_Homo sapiens_hsa050102.21117028
14Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042612.03482097
15Glucagon signaling pathway_Homo sapiens_hsa049222.00636179
16Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.00146782
17Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.82412286
18Oxytocin signaling pathway_Homo sapiens_hsa049211.79853763
19Insulin signaling pathway_Homo sapiens_hsa049101.74753612
20Biosynthesis of amino acids_Homo sapiens_hsa012301.68903513
21Circadian rhythm_Homo sapiens_hsa047101.68662701
22Insulin resistance_Homo sapiens_hsa049311.67084537
23Galactose metabolism_Homo sapiens_hsa000521.57467963
24Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.57058158
25Pyruvate metabolism_Homo sapiens_hsa006201.56651457
26Huntingtons disease_Homo sapiens_hsa050161.55621218
27Tight junction_Homo sapiens_hsa045301.43606290
28Fatty acid degradation_Homo sapiens_hsa000711.41953625
29Fructose and mannose metabolism_Homo sapiens_hsa000511.40916145
30Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.40824017
31Calcium signaling pathway_Homo sapiens_hsa040201.39635366
32Viral myocarditis_Homo sapiens_hsa054161.39144532
33Adipocytokine signaling pathway_Homo sapiens_hsa049201.32397868
34cGMP-PKG signaling pathway_Homo sapiens_hsa040221.28736877
35AMPK signaling pathway_Homo sapiens_hsa041521.26077268
36Fatty acid metabolism_Homo sapiens_hsa012121.23702407
37Nitrogen metabolism_Homo sapiens_hsa009101.21077452
38Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.13646111
39Vascular smooth muscle contraction_Homo sapiens_hsa042701.07950387
40Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.06053701
41Focal adhesion_Homo sapiens_hsa045101.02601480
42Central carbon metabolism in cancer_Homo sapiens_hsa052300.98785199
43Pentose phosphate pathway_Homo sapiens_hsa000300.96082460
44Arginine and proline metabolism_Homo sapiens_hsa003300.94335744
45Long-term potentiation_Homo sapiens_hsa047200.89848812
46HIF-1 signaling pathway_Homo sapiens_hsa040660.88471033
47Fatty acid elongation_Homo sapiens_hsa000620.83363506
48Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.68944572
49Gastric acid secretion_Homo sapiens_hsa049710.67564938
50Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.64996184
51FoxO signaling pathway_Homo sapiens_hsa040680.62952082
52GnRH signaling pathway_Homo sapiens_hsa049120.62557371
53Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.61738233
54Longevity regulating pathway - mammal_Homo sapiens_hsa042110.56089545
55Salivary secretion_Homo sapiens_hsa049700.51212756
56Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.49027792
57Renin secretion_Homo sapiens_hsa049240.47513867
58PPAR signaling pathway_Homo sapiens_hsa033200.46785300
59Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.45805861
60Leukocyte transendothelial migration_Homo sapiens_hsa046700.45621336
61Adherens junction_Homo sapiens_hsa045200.45225510
62Arginine biosynthesis_Homo sapiens_hsa002200.44386707
63Fatty acid biosynthesis_Homo sapiens_hsa000610.42980611
64beta-Alanine metabolism_Homo sapiens_hsa004100.40386765
65Insulin secretion_Homo sapiens_hsa049110.39576257
66Butanoate metabolism_Homo sapiens_hsa006500.39340853
67Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.39291094
68mTOR signaling pathway_Homo sapiens_hsa041500.39058609
69Regulation of actin cytoskeleton_Homo sapiens_hsa048100.37884326
70MAPK signaling pathway_Homo sapiens_hsa040100.37678950
71VEGF signaling pathway_Homo sapiens_hsa043700.36904666
72Type II diabetes mellitus_Homo sapiens_hsa049300.34891300
73Proteoglycans in cancer_Homo sapiens_hsa052050.34890352
74Amphetamine addiction_Homo sapiens_hsa050310.33544747
75Amoebiasis_Homo sapiens_hsa051460.32761979
76Platelet activation_Homo sapiens_hsa046110.32268035
77Phenylalanine metabolism_Homo sapiens_hsa003600.31571958
78Glioma_Homo sapiens_hsa052140.30700289
79Regulation of autophagy_Homo sapiens_hsa041400.29741223
80Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.26543601
81ECM-receptor interaction_Homo sapiens_hsa045120.26115184
82Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.24535456
83Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.24102127
84Histidine metabolism_Homo sapiens_hsa003400.23893258
85Metabolic pathways_Homo sapiens_hsa011000.22819129
86Aldosterone synthesis and secretion_Homo sapiens_hsa049250.17730679
87Neurotrophin signaling pathway_Homo sapiens_hsa047220.16031233
88Carbohydrate digestion and absorption_Homo sapiens_hsa049730.15959616
89Olfactory transduction_Homo sapiens_hsa047400.14974505
90Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.14907218
91Phototransduction_Homo sapiens_hsa047440.14496509
92Renal cell carcinoma_Homo sapiens_hsa052110.14399162
93Tyrosine metabolism_Homo sapiens_hsa003500.12932736
94Oocyte meiosis_Homo sapiens_hsa041140.12659203
95Thyroid cancer_Homo sapiens_hsa052160.12408674
96Long-term depression_Homo sapiens_hsa047300.11134148
97Purine metabolism_Homo sapiens_hsa002300.11082711
98Circadian entrainment_Homo sapiens_hsa047130.10905621
99Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.10622405
100Lysine degradation_Homo sapiens_hsa003100.10396674
101Peroxisome_Homo sapiens_hsa041460.10376834
102Melanogenesis_Homo sapiens_hsa049160.10108525
103Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.09542819
104Cysteine and methionine metabolism_Homo sapiens_hsa002700.07867748
105Basal cell carcinoma_Homo sapiens_hsa052170.07001658
106Sulfur metabolism_Homo sapiens_hsa009200.06385027
107Tryptophan metabolism_Homo sapiens_hsa003800.05648447
108cAMP signaling pathway_Homo sapiens_hsa040240.04968394
109Cholinergic synapse_Homo sapiens_hsa047250.03840054
110AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.03281741
111Pancreatic secretion_Homo sapiens_hsa049720.01086384
112Proteasome_Homo sapiens_hsa030500.00935807
113Thyroid hormone signaling pathway_Homo sapiens_hsa049190.00395952
114Gap junction_Homo sapiens_hsa04540-0.0445066
115Fc epsilon RI signaling pathway_Homo sapiens_hsa04664-0.0439925
116Linoleic acid metabolism_Homo sapiens_hsa00591-0.0340167
117Hippo signaling pathway_Homo sapiens_hsa04390-0.0124796
118alpha-Linolenic acid metabolism_Homo sapiens_hsa00592-0.0113781
119Glycerolipid metabolism_Homo sapiens_hsa00561-0.0011001

Most similar genes based on co-expression Upload to Enrichr

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