ATP2A1

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 one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in muscular excitation and contraction. Mutations in this gene cause some autosomal recessive forms of Brody disease, characterized by increasing impairment of muscular relaxation during exercise. Alternative splicing results in three transcript variants encoding different isoforms. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* regulation of skeletal muscle contraction (GO:0014819)9.23108217
2skeletal muscle fiber development (GO:0048741)8.84291395
3actin filament-based movement (GO:0030048)8.31688022
4myotube cell development (GO:0014904)7.52528234
5plasma membrane repair (GO:0001778)7.44945451
6glycogen catabolic process (GO:0005980)6.89806897
7positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)6.83428075
8striated muscle contraction (GO:0006941)6.78899508
9skeletal muscle tissue regeneration (GO:0043403)6.74152716
10creatine metabolic process (GO:0006600)6.70251164
11sarcomere organization (GO:0045214)6.48191954
12glucan catabolic process (GO:0009251)6.46154456
13response to stimulus involved in regulation of muscle adaptation (GO:0014874)6.31825803
14cellular polysaccharide catabolic process (GO:0044247)6.01398416
15striated muscle atrophy (GO:0014891)5.99630581
16purine nucleotide salvage (GO:0032261)5.93217379
17response to muscle activity (GO:0014850)5.90992996
18pyrimidine ribonucleoside catabolic process (GO:0046133)5.89679075
19polysaccharide catabolic process (GO:0000272)5.81978544
20carnitine shuttle (GO:0006853)5.76173687
21myofibril assembly (GO:0030239)5.75696001
22cytidine metabolic process (GO:0046087)5.74595219
23cytidine catabolic process (GO:0006216)5.74595219
24cytidine deamination (GO:0009972)5.74595219
25muscle contraction (GO:0006936)5.72197013
26response to inactivity (GO:0014854)5.62848420
27regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.58911795
28regulation of cell communication by electrical coupling (GO:0010649)5.50278833
29regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)5.47293166
30striated muscle adaptation (GO:0014888)5.27885309
31glucan biosynthetic process (GO:0009250)5.20355973
32glycogen biosynthetic process (GO:0005978)5.20355973
33muscle atrophy (GO:0014889)5.18850685
34muscle fiber development (GO:0048747)5.15240415
35IMP metabolic process (GO:0046040)5.07722176
36* muscle system process (GO:0003012)4.94877253
37NADH metabolic process (GO:0006734)4.91388657
38fatty acid transmembrane transport (GO:1902001)4.86651285
39actomyosin structure organization (GO:0031032)4.60381069
40glycogen metabolic process (GO:0005977)4.57097826
41cardiac muscle hypertrophy (GO:0003300)4.55655783
42negative regulation of muscle hypertrophy (GO:0014741)4.49575209
43glucan metabolic process (GO:0044042)4.48001711
44cellular glucan metabolic process (GO:0006073)4.48001711
45regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)4.46975222
46negative regulation of potassium ion transmembrane transporter activity (GO:1901017)4.44121986
47fructose metabolic process (GO:0006000)4.43400834
48striated muscle hypertrophy (GO:0014897)4.34729180
49muscle cell fate commitment (GO:0042693)4.31482649
50carnitine transmembrane transport (GO:1902603)4.27291608
51muscle adaptation (GO:0043500)4.26826959
52regulation of skeletal muscle cell differentiation (GO:2001014)4.24699741
53muscle organ morphogenesis (GO:0048644)4.12242060
54negative regulation of skeletal muscle tissue development (GO:0048642)4.10546342
552-oxoglutarate metabolic process (GO:0006103)4.09205657
56response to activity (GO:0014823)4.07832161
57regulation of acyl-CoA biosynthetic process (GO:0050812)4.06672373
58neuronal action potential propagation (GO:0019227)4.04536439
59gluconeogenesis (GO:0006094)4.03536908
60muscle organ development (GO:0007517)3.94081580
61muscle cell cellular homeostasis (GO:0046716)3.92001816
62muscle hypertrophy (GO:0014896)3.90613877
63amino-acid betaine transport (GO:0015838)3.89916387
64carnitine transport (GO:0015879)3.89916387
65muscle structure development (GO:0061061)3.88487836
66IMP biosynthetic process (GO:0006188)3.85411031
67cardiac muscle contraction (GO:0060048)3.83836926
68cellular carbohydrate catabolic process (GO:0044275)3.82130211
69muscle tissue morphogenesis (GO:0060415)3.81731798
70neuromuscular synaptic transmission (GO:0007274)3.80578696
71striated muscle cell development (GO:0055002)3.78549108
72myotube differentiation (GO:0014902)3.75499946
73skeletal muscle tissue development (GO:0007519)3.72272602
74regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.69383895
75regulation of coenzyme metabolic process (GO:0051196)3.67018248
76regulation of cofactor metabolic process (GO:0051193)3.67018248
77adult heart development (GO:0007512)3.66199651
78myoblast fusion (GO:0007520)3.65510443
79regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.64215019
80regulation of relaxation of muscle (GO:1901077)3.61917763
81hexose biosynthetic process (GO:0019319)3.61916466
82cellular response to dexamethasone stimulus (GO:0071549)3.58927396
83cardiac muscle tissue morphogenesis (GO:0055008)3.55054043
84positive regulation of myotube differentiation (GO:0010831)3.54398397
85negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.53497985
86negative regulation of calcium ion transmembrane transport (GO:1903170)3.53497985
87cardiac muscle cell development (GO:0055013)3.42253054
88striated muscle tissue development (GO:0014706)3.41497868
89* regulation of striated muscle contraction (GO:0006942)3.37658140
90regulation of calcium ion transmembrane transport (GO:1903169)3.37565095
91regulation of calcium ion transmembrane transporter activity (GO:1901019)3.37565095
92negative regulation of potassium ion transmembrane transport (GO:1901380)3.35815538
93cardiac muscle hypertrophy in response to stress (GO:0014898)3.35193736
94muscle hypertrophy in response to stress (GO:0003299)3.35193736
95cardiac muscle adaptation (GO:0014887)3.35193736
96response to dexamethasone (GO:0071548)3.34595199
97tricarboxylic acid cycle (GO:0006099)3.33758976
98syncytium formation (GO:0006949)3.32680948
99ubiquinone biosynthetic process (GO:0006744)3.27218333
100syncytium formation by plasma membrane fusion (GO:0000768)3.27128952
101neuromuscular junction development (GO:0007528)3.24458046
102regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.24221274
103muscle cell development (GO:0055001)3.23234975
104negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.22604423
105cellular polysaccharide metabolic process (GO:0044264)3.22409559
106regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.20978162
107AMP metabolic process (GO:0046033)3.18760827
108positive regulation of cation channel activity (GO:2001259)3.18693854
109cardiac cell development (GO:0055006)3.16845913
110positive regulation of myoblast differentiation (GO:0045663)3.14986404
111regulation of myotube differentiation (GO:0010830)3.12436316
112cellular polysaccharide biosynthetic process (GO:0033692)3.11940417
113regulation of sequestering of triglyceride (GO:0010889)3.09366043
114polysaccharide biosynthetic process (GO:0000271)3.07545269
115positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.05675226
116regulation of actin filament-based movement (GO:1903115)3.05446783
117endoplasmic reticulum organization (GO:0007029)3.04071382
118negative regulation of cAMP-mediated signaling (GO:0043951)3.00824285
119regulation of sulfur metabolic process (GO:0042762)2.99818458
120regulation of myoblast differentiation (GO:0045661)2.98882069
121polysaccharide metabolic process (GO:0005976)2.98760310
122cellular carbohydrate biosynthetic process (GO:0034637)2.96621837
123cardiac myofibril assembly (GO:0055003)2.91776203
124actin-myosin filament sliding (GO:0033275)13.5508715
125muscle filament sliding (GO:0030049)13.5508715
126skeletal muscle contraction (GO:0003009)11.6083904
127actin-mediated cell contraction (GO:0070252)11.0967752
128sarcoplasmic reticulum calcium ion transport (GO:0070296)10.5426893
129skeletal muscle adaptation (GO:0043501)10.1812897

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human8.40055952
2PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.50184619
3TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.44083656
4ESR1_20079471_ChIP-ChIP_T-47D_Human3.26975137
5RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.10597175
6TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.04114284
7TP63_17297297_ChIP-ChIP_HaCaT_Human2.76254315
8ZNF263_19887448_ChIP-Seq_K562_Human2.53605898
9ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.41876443
10RARG_19884340_ChIP-ChIP_MEFs_Mouse2.36894497
11TBX20_22328084_ChIP-Seq_HEART_Mouse2.28836958
12TBX20_22080862_ChIP-Seq_HEART_Mouse2.28836958
13AR_21572438_ChIP-Seq_LNCaP_Human2.26922777
14CDX2_19796622_ChIP-Seq_MESCs_Mouse2.26306116
15PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.05885276
16GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.96142167
17* BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.95517105
18ESR1_21235772_ChIP-Seq_MCF-7_Human1.94302840
19ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.84051694
20CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.81020608
21RBPJ_22232070_ChIP-Seq_NCS_Mouse1.79955986
22CTCF_21964334_ChIP-Seq_BJAB-B_Human1.77727430
23BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.75642412
24CTCF_27219007_Chip-Seq_Bcells_Human1.75581194
25THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.72556641
26P63_26484246_Chip-Seq_KERATINOCYTES_Human1.67887286
27ESR2_21235772_ChIP-Seq_MCF-7_Human1.66291393
28MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.63892200
29TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.61506954
30CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.58751867
31EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.56299985
32CLOCK_20551151_ChIP-Seq_293T_Human1.53153072
33DNAJC2_21179169_ChIP-ChIP_NT2_Human1.49643169
34SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.44551490
35ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.41784560
36* PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.38377888
37NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.35663744
38ZNF274_21170338_ChIP-Seq_K562_Hela1.35449243
39FOXH1_21741376_ChIP-Seq_ESCs_Human1.34214159
40KDM2B_26808549_Chip-Seq_DND41_Human1.30867652
41NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.27275090
42PPARA_22158963_ChIP-Seq_LIVER_Mouse1.27216557
43SMC1_22415368_ChIP-Seq_MEFs_Mouse1.26740711
44* SA1_27219007_Chip-Seq_Bcells_Human1.26706589
45LXR_22292898_ChIP-Seq_THP-1_Human1.25250726
46STAT1_20625510_ChIP-Seq_HELA_Human1.23516499
47CTCF_21964334_Chip-Seq_Bcells_Human1.22637315
48YY1_22570637_ChIP-Seq_MALME-3M_Human1.21837624
49TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.21154261
50RACK7_27058665_Chip-Seq_MCF-7_Human1.21045154
51RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.20200153
52IGF1R_20145208_ChIP-Seq_DFB_Human1.19762222
53STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.18070306
54EP300_21415370_ChIP-Seq_HL-1_Mouse1.18059400
55OCT4_20526341_ChIP-Seq_ESCs_Human1.17779634
56EZH2_22144423_ChIP-Seq_EOC_Human1.16803712
57SMC3_22415368_ChIP-Seq_MEFs_Mouse1.15446654
58RARB_27405468_Chip-Seq_BRAIN_Mouse1.13949667
59DROSHA_22980978_ChIP-Seq_HELA_Human1.13401756
60CBX2_27304074_Chip-Seq_ESCs_Mouse1.12690953
61E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.11140935
62* UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.09842284
63LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.07765265
64* SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.07649455
65TP53_20018659_ChIP-ChIP_R1E_Mouse1.06676970
66EZH2_27294783_Chip-Seq_ESCs_Mouse1.06445975
67* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.06206490
68TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.04842550
69NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.02994736
70* CTCF_27219007_Chip-Seq_ERYTHROID_Human1.02479386
71NANOG_20526341_ChIP-Seq_ESCs_Human1.02245937
72ATF3_27146783_Chip-Seq_COLON_Human1.01481732
73TCF7_22412390_ChIP-Seq_EML_Mouse1.00636748
74STAT6_21828071_ChIP-Seq_BEAS2B_Human1.00359124
75RXR_22158963_ChIP-Seq_LIVER_Mouse0.99878648
76ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.99784855
77* CREB1_26743006_Chip-Seq_LNCaP_Human0.99586301
78SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.99555985
79TP63_22573176_ChIP-Seq_HFKS_Human0.99117251
80WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.98934703
81MYC_27129775_Chip-Seq_CORNEA_Mouse0.97841760
82HIF1A_21447827_ChIP-Seq_MCF-7_Human0.97034458
83CRX_20693478_ChIP-Seq_RETINA_Mouse0.96912038
84KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.96671675
85CBP_20019798_ChIP-Seq_JUKART_Human0.96486666
86IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.96486666
87CJUN_26792858_Chip-Seq_BT549_Human0.95059195
88CTCF_26484167_Chip-Seq_Bcells_Mouse0.94614666
89BCL6_27268052_Chip-Seq_Bcells_Human0.94399021
90* P68_20966046_ChIP-Seq_HELA_Human0.94215089
91KDM2B_26808549_Chip-Seq_SUP-B15_Human0.92700081
92SUZ12_27294783_Chip-Seq_NPCs_Mouse0.92523549
93GATA6_21074721_ChIP-Seq_CACO-2_Human0.92443352
94P53_22127205_ChIP-Seq_FIBROBLAST_Human0.90340740
95* P300_27058665_Chip-Seq_ZR-75-30cells_Human0.90029109
96NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.89772259
97P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.89757431
98LXR_22158963_ChIP-Seq_LIVER_Mouse0.88930501
99ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.88452082
100* E2F1_20622854_ChIP-Seq_HELA_Human0.88368602
101PCGF2_27294783_Chip-Seq_ESCs_Mouse0.87825049
102* CEBPB_22108803_ChIP-Seq_LS180_Human0.87650269
103CSB_26484114_Chip-Seq_FIBROBLAST_Human0.87428937
104* RAC3_21632823_ChIP-Seq_H3396_Human0.87388224
105NFIB_24661679_ChIP-Seq_LUNG_Mouse0.87119415
106GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.86971174
107SPI1_20517297_ChIP-Seq_HL60_Human0.86513869
108FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.86450351
109CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.86159149
110ELK3_25401928_ChIP-Seq_HUVEC_Human0.86009360
111OCT4_21477851_ChIP-Seq_ESCs_Mouse0.85952515
112GATA4_21415370_ChIP-Seq_HL-1_Mouse0.85533069
113ERG_21242973_ChIP-ChIP_JURKAT_Human0.85182184
114KLF4_19829295_ChIP-Seq_ESCs_Human0.85154357
115ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.84822455
116STAT3_1855785_ChIP-Seq_MESCs_Mouse0.84267461
117* MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.84049263
118PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.83754576
119EZH2_27294783_Chip-Seq_NPCs_Mouse0.83685349
120* GATA1_19941827_ChIP-Seq_MEL_Mouse0.83591414
121OCT1_27270436_Chip-Seq_PROSTATE_Human0.83180850
122FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.82830250
123ESR1_15608294_ChIP-ChIP_MCF-7_Human0.82411608
124EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.81951637
125* ELF1_20517297_ChIP-Seq_JURKAT_Human0.81829727
126SOX9_24532713_ChIP-Seq_HFSC_Mouse0.81276883
127DPY_21335234_ChIP-Seq_ESCs_Mouse0.78723028
128* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.78702068
129LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.76024206
130RAD21_21589869_ChIP-Seq_MESCs_Mouse0.75229971
131FLI1_27457419_Chip-Seq_LIVER_Mouse0.73997474
132HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.73747319
133MTF2_20144788_ChIP-Seq_MESCs_Mouse0.72828870
134EGR1_19032775_ChIP-ChIP_M12_Human0.71308441
135GATA3_21867929_ChIP-Seq_CD8_Mouse0.70656308
136LUZP1_20508642_ChIP-Seq_ESCs_Mouse0.70622578
137SOX2_21211035_ChIP-Seq_LN229_Gbm0.70595901
138STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.69802421
139NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.69143177
140NRF2_20460467_ChIP-Seq_MEFs_Mouse0.69143177

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004145_abnormal_muscle_electrophysio7.94963841
2MP0000749_muscle_degeneration6.52901741
3MP0003646_muscle_fatigue6.25797721
4MP0000751_myopathy5.77547097
5MP0000747_muscle_weakness4.73045644
6* MP0002106_abnormal_muscle_physiology4.12088137
7* MP0000759_abnormal_skeletal_muscle3.79095556
8MP0002269_muscular_atrophy3.55015220
9* MP0005369_muscle_phenotype3.46980249
10MP0004087_abnormal_muscle_fiber3.44541103
11MP0002837_dystrophic_cardiac_calcinosis3.40882381
12MP0004130_abnormal_muscle_cell3.29223714
13MP0000750_abnormal_muscle_regeneration3.28386992
14* MP0004036_abnormal_muscle_relaxation3.19658008
15* MP0005620_abnormal_muscle_contractility2.98640746
16MP0004233_abnormal_muscle_weight2.51986749
17MP0000733_abnormal_muscle_development2.50826573
18MP0002108_abnormal_muscle_morphology2.23080382
19MP0002332_abnormal_exercise_endurance2.18719922
20MP0005275_abnormal_skin_tensile1.97311283
21MP0004185_abnormal_adipocyte_glucose1.81465205
22MP0005330_cardiomyopathy1.77460589
23MP0006036_abnormal_mitochondrial_physio1.76661717
24MP0004084_abnormal_cardiac_muscle1.51089388
25MP0004270_analgesia1.50667129
26MP0002971_abnormal_brown_adipose1.47429511
27MP0005666_abnormal_adipose_tissue1.38819767
28MP0003705_abnormal_hypodermis_morpholog1.37763277
29MP0002972_abnormal_cardiac_muscle1.19841635
30MP0004215_abnormal_myocardial_fiber1.13681896
31MP0004484_altered_response_of1.12666589
32MP0010630_abnormal_cardiac_muscle1.12577474
33MP0001661_extended_life_span1.10103010
34MP0003806_abnormal_nucleotide_metabolis1.09114544
35MP0002796_impaired_skin_barrier1.06505813
36MP0000013_abnormal_adipose_tissue1.06050723
37MP0005375_adipose_tissue_phenotype1.05994805
38MP0003221_abnormal_cardiomyocyte_apopto1.03346746
39MP0004134_abnormal_chest_morphology0.98966756
40MP0005266_abnormal_metabolism0.98840371
41MP0002822_catalepsy0.97337140
42MP0003950_abnormal_plasma_membrane0.91634628
43MP0006035_abnormal_mitochondrial_morpho0.88208201
44MP0002234_abnormal_pharynx_morphology0.85579846
45MP0005503_abnormal_tendon_morphology0.83869133
46MP0000762_abnormal_tongue_morphology0.82454752
47MP0009780_abnormal_chondrocyte_physiolo0.81255639
48MP0005385_cardiovascular_system_phenoty0.78119340
49MP0001544_abnormal_cardiovascular_syste0.78119340
50MP0009250_abnormal_appendicular_skeleto0.76886672
51MP0000372_irregular_coat_pigmentation0.75736397
52MP0003656_abnormal_erythrocyte_physiolo0.75593530
53MP0001299_abnormal_eye_distance/0.72271760
54MP0000579_abnormal_nail_morphology0.71869385
55MP0008961_abnormal_basal_metabolism0.64436076
56MP0003828_pulmonary_edema0.61732569
57MP0004085_abnormal_heartbeat0.61726895
58MP0003879_abnormal_hair_cell0.60432512
59MP0000003_abnormal_adipose_tissue0.59837618
60MP0004147_increased_porphyrin_level0.59555297
61MP0005334_abnormal_fat_pad0.59444360
62MP0003137_abnormal_impulse_conducting0.57988205
63MP0002078_abnormal_glucose_homeostasis0.57497331
64MP0001243_abnormal_dermal_layer0.55174712
65MP0004043_abnormal_pH_regulation0.55147320
66MP0005501_abnormal_skin_physiology0.53249190
67MP0010030_abnormal_orbit_morphology0.53144324
68MP0005670_abnormal_white_adipose0.52507073
69MP0002089_abnormal_postnatal_growth/wei0.51084843
70MP0002896_abnormal_bone_mineralization0.50598956
71MP0008438_abnormal_cutaneous_collagen0.50199452
72MP0000383_abnormal_hair_follicle0.49863232
73MP0000343_altered_response_to0.49493101
74MP0009672_abnormal_birth_weight0.48559010
75MP0000266_abnormal_heart_morphology0.47928566
76MP0005452_abnormal_adipose_tissue0.47647314
77MP0008569_lethality_at_weaning0.47087716
78MP0001346_abnormal_lacrimal_gland0.46118924
79MP0003959_abnormal_lean_body0.44640639
80MP0003045_fibrosis0.43415301
81MP0002638_abnormal_pupillary_reflex0.42738181
82MP0002060_abnormal_skin_morphology0.42458388
83MP0005584_abnormal_enzyme/coenzyme_acti0.42365892
84MP0008775_abnormal_heart_ventricle0.41700003
85MP0005167_abnormal_blood-brain_barrier0.40915904
86MP0005083_abnormal_biliary_tract0.40399071
87MP0002127_abnormal_cardiovascular_syste0.39529885
88MP0001849_ear_inflammation0.39476430
89MP0000427_abnormal_hair_cycle0.38442736
90MP0002114_abnormal_axial_skeleton0.37334868
91MP0002128_abnormal_blood_circulation0.36266241
92MP0002734_abnormal_mechanical_nocicepti0.31586209
93MP0006138_congestive_heart_failure0.31501047
94MP0000377_abnormal_hair_follicle0.31135117
95MP0009115_abnormal_fat_cell0.31108935
96MP0010678_abnormal_skin_adnexa0.30964229
97MP0005423_abnormal_somatic_nervous0.30159951
98MP0004142_abnormal_muscle_tone0.30111997
99MP0005319_abnormal_enzyme/_coenzyme0.29457100
100MP0009931_abnormal_skin_appearance0.26893620
101MP0005451_abnormal_body_composition0.26118075
102MP0005332_abnormal_amino_acid0.25144114
103MP0002249_abnormal_larynx_morphology0.23464202
104MP0000230_abnormal_systemic_arterial0.22772887
105MP0010771_integument_phenotype0.22654489
106MP0000647_abnormal_sebaceous_gland0.22554607
107MP0002932_abnormal_joint_morphology0.22512546
108MP0002118_abnormal_lipid_homeostasis0.21749662
109MP0004510_myositis0.21447596
110MP0008770_decreased_survivor_rate0.21183137
111MP0003385_abnormal_body_wall0.21082671
112MP0002066_abnormal_motor_capabilities/c0.21056597
113MP0005535_abnormal_body_temperature0.20919415
114MP0003755_abnormal_palate_morphology0.20762024
115* MP0003948_abnormal_gas_homeostasis0.20527861
116MP0005166_decreased_susceptibility_to0.19715246
117MP0005376_homeostasis/metabolism_phenot0.19530125
118MP0005187_abnormal_penis_morphology0.19337925
119MP0005165_increased_susceptibility_to0.19216394
120MP0006276_abnormal_autonomic_nervous0.18369820
121MP0004858_abnormal_nervous_system0.18260720
122* MP0001943_abnormal_respiration0.18164882
123MP0004197_abnormal_fetal_growth/weight/0.16708146
124MP0002067_abnormal_sensory_capabilities0.13608976

Predicted human phenotypes

RankGene SetZ-score
1Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)9.68044534
2Nemaline bodies (HP:0003798)9.20548056
3Exercise-induced myalgia (HP:0003738)8.65353382
4Exercise-induced muscle cramps (HP:0003710)7.83788828
5Type 1 muscle fiber predominance (HP:0003803)7.67376601
6Distal arthrogryposis (HP:0005684)7.62031500
7Myopathic facies (HP:0002058)6.91284150
8Round ear (HP:0100830)6.61376953
9Ulnar deviation of the wrist (HP:0003049)6.52069297
10Muscle hypertrophy of the lower extremities (HP:0008968)6.41991272
11Calf muscle hypertrophy (HP:0008981)5.67307995
12Calcaneovalgus deformity (HP:0001848)5.62390558
13Deformed tarsal bones (HP:0008119)5.41130665
14Difficulty running (HP:0009046)5.36801553
15Absent phalangeal crease (HP:0006109)5.17145398
16Muscle fiber splitting (HP:0003555)5.13544430
17Myoglobinuria (HP:0002913)5.12754871
18Hyporeflexia of lower limbs (HP:0002600)4.70416203
19Muscle stiffness (HP:0003552)4.57825331
20Increased connective tissue (HP:0009025)4.51064596
21EMG: myopathic abnormalities (HP:0003458)4.43064692
22Abnormal finger flexion creases (HP:0006143)4.32760507
23Rhabdomyolysis (HP:0003201)4.27576592
24Abnormality of skeletal muscle fiber size (HP:0012084)4.06421710
25Myotonia (HP:0002486)3.99129398
26Abnormality of the calf musculature (HP:0001430)3.88436281
27Malignant hyperthermia (HP:0002047)3.75729869
28Increased variability in muscle fiber diameter (HP:0003557)3.57477267
29Neck muscle weakness (HP:0000467)3.52618862
30Abnormality of the calcaneus (HP:0008364)3.40836604
31Frequent falls (HP:0002359)3.35489762
32Rimmed vacuoles (HP:0003805)3.34702712
33Abnormality of the left ventricular outflow tract (HP:0011103)3.34567528
34Subaortic stenosis (HP:0001682)3.34567528
35Difficulty climbing stairs (HP:0003551)3.30013206
36Shoulder girdle muscle weakness (HP:0003547)3.09035189
37Pelvic girdle muscle weakness (HP:0003749)3.08722538
38Areflexia of lower limbs (HP:0002522)2.98528614
39Abnormality of the hip-girdle musculature (HP:0001445)2.98441744
40Abnormality of the musculature of the pelvis (HP:0001469)2.98441744
41Slender build (HP:0001533)2.93761388
42Hyperkalemia (HP:0002153)2.93023982
43Fatigable weakness (HP:0003473)2.69519061
44Abnormality of the neuromuscular junction (HP:0003398)2.69519061
45Asymmetric septal hypertrophy (HP:0001670)2.66666604
46Bundle branch block (HP:0011710)2.65943412
47Paralysis (HP:0003470)2.56069285
48EMG: neuropathic changes (HP:0003445)2.46036495
49Mildly elevated creatine phosphokinase (HP:0008180)2.45214362
50Sudden death (HP:0001699)2.42883134
51Distal lower limb muscle weakness (HP:0009053)2.41717169
52Bulbar palsy (HP:0001283)2.32767036
53Spinal rigidity (HP:0003306)2.31894161
54Dilated cardiomyopathy (HP:0001644)2.31202725
55Muscular dystrophy (HP:0003560)2.28966366
56Generalized muscle weakness (HP:0003324)2.26863659
57Ulnar deviation of finger (HP:0009465)2.23157656
58Metatarsus adductus (HP:0001840)2.23030981
59Centrally nucleated skeletal muscle fibers (HP:0003687)2.22511023
60Fetal akinesia sequence (HP:0001989)2.19991834
61Nonprogressive disorder (HP:0003680)2.17337788
62Hypoplastic ischia (HP:0003175)2.16036317
63Limb-girdle muscle weakness (HP:0003325)2.15469248
64Proximal amyotrophy (HP:0007126)2.10601523
65Scapular winging (HP:0003691)2.09272148
66Facial diplegia (HP:0001349)2.06188586
67Gowers sign (HP:0003391)2.03646351
68Abnormality of the shoulder girdle musculature (HP:0001435)2.03509924
69Weak cry (HP:0001612)2.03439019
70Muscle fiber inclusion bodies (HP:0100299)10.0205343
71Lipoatrophy (HP:0100578)1.98356204
72Limb-girdle muscle atrophy (HP:0003797)1.96899865
73Abnormality of the foot musculature (HP:0001436)1.94997305
74Distal lower limb amyotrophy (HP:0008944)1.94799395
75Tarsal synostosis (HP:0008368)1.90301073
76Abnormality of the ischium (HP:0003174)1.88397095
77Popliteal pterygium (HP:0009756)1.86154898
78Waddling gait (HP:0002515)1.85666847
79Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.84435415
80Foot dorsiflexor weakness (HP:0009027)1.82573321
81Achilles tendon contracture (HP:0001771)1.82331007
82Progressive muscle weakness (HP:0003323)1.77698523
83Exercise intolerance (HP:0003546)1.76679375
84Ulnar deviation of the hand or of fingers of the hand (HP:0001193)1.74563939
85Heart block (HP:0012722)1.72953575
86Synostosis involving bones of the lower limbs (HP:0009138)1.71276415
87Synostosis involving bones of the feet (HP:0009140)1.71276415
88Hip contracture (HP:0003273)1.67474591
89Abnormality of the Achilles tendon (HP:0005109)1.65746403
90Type 2 muscle fiber atrophy (HP:0003554)1.63440674
91Abnormal atrioventricular conduction (HP:0005150)1.62508495
92Ventricular tachycardia (HP:0004756)1.62343155
93Ragged-red muscle fibers (HP:0003200)1.61839560
94Mesomelia (HP:0003027)1.60990032
95Stridor (HP:0010307)1.57670214
96Short palpebral fissure (HP:0012745)1.56028638
97Adducted thumb (HP:0001181)1.54772343
98Respiratory insufficiency due to muscle weakness (HP:0002747)1.54426975
99Long clavicles (HP:0000890)1.53714722
100Congenital hip dislocation (HP:0001374)1.53277015
101Cholelithiasis (HP:0001081)1.53230499
102Increased density of long bones (HP:0006392)1.53229620
103Muscle fiber atrophy (HP:0100295)1.51833931
104Increased purine levels (HP:0004368)1.50789955
105Hyperuricemia (HP:0002149)1.50789955
106Fibular aplasia (HP:0002990)1.50307509
107Abnormality of potassium homeostasis (HP:0011042)1.49890653
108Gout (HP:0001997)1.49344462
109Limited hip movement (HP:0008800)1.48045937
110Increased intramyocellular lipid droplets (HP:0012240)1.44844881
111Lower limb amyotrophy (HP:0007210)1.42958567
112Ventricular arrhythmia (HP:0004308)1.41255762
113Wrist flexion contracture (HP:0001239)1.36782303
114Amniotic constriction ring (HP:0009775)1.35261871
115Abnormality of placental membranes (HP:0011409)1.35261871
116Increased muscle lipid content (HP:0009058)1.35113120
117Oligomenorrhea (HP:0000876)1.34862155
118Abnormal gallbladder morphology (HP:0012437)1.34615128
119Steppage gait (HP:0003376)1.32525194
120Easy fatigability (HP:0003388)1.24069459

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN8.41825204
2TTN6.25790729
3PHKG15.79398672
4PHKG25.79398672
5NME14.20719536
6PIK3CG4.06252643
7MAP2K32.87433913
8NEK12.34078392
9MAP3K72.13464768
10TRIB31.96564793
11PINK11.88549454
12PDK41.83488533
13PDK31.83488533
14PIK3CA1.67490364
15DMPK1.62851464
16MAPK121.62225825
17MAP2K41.61564913
18BCKDK1.48134162
19MAP2K61.42005962
20MUSK1.22547642
21PDK21.21468456
22MAPKAPK31.00288274
23CCNB11.00069153
24MAP3K30.99722870
25MARK10.87904255
26PRKAA20.86038478
27NEK90.83220785
28PRKAA10.81005562
29TAOK20.73969565
30ERBB30.71967528
31TRPM70.70360969
32PKN20.67142707
33TAOK10.66203613
34MAPK110.64129741
35MAP3K130.63678130
36STK240.62762916
37EPHB10.62422694
38SIK10.60462005
39MAP3K110.60162072
40RIPK10.58844683
41CAMK2G0.57768837
42CAMK40.57269189
43AKT20.56249116
44EEF2K0.47412705
45ZAK0.47117604
46PTK60.42565519
47ILK0.41632494
48LIMK10.39967039
49CAMK10.38217359
50ERN10.36474719
51KSR20.35670762
52MAP3K60.35628211
53CAMK2B0.34510937
54CAMK2A0.34440153
55SGK10.33503809
56MAP3K10.32715442
57SGK20.32247473
58RPS6KB10.30130165
59MAP3K50.28935128
60MAPK130.28146630
61PRKG10.28136519
62MAP3K100.26964208
63TBK10.26494698
64PRKACB0.26253252
65RPS6KA30.24986200
66MOS0.24838440
67MAP2K10.23640272
68LATS10.23559634
69DDR20.21708949
70PKN10.21630121
71MAPK40.21381637
72MAPK70.20879167
73LATS20.20159719
74ROCK10.19178461
75ARAF0.19050014
76MARK20.18553935
77MARK30.18420430
78PRKACA0.18406251
79CAMK1G0.17768306
80MST1R0.17420966
81FER0.16774870
82PRKD10.16318180
83DYRK1B0.16057149
84CDK190.15997069
85PDPK10.15850453
86SGK2230.15184539
87SGK4940.15184539
88PRPF4B0.14797106
89TGFBR20.14566661
90TYK20.14467080
91PAK60.13724193
92LRRK20.13633647
93FGFR10.13606195
94TIE10.13125048
95RPS6KL10.11759291
96RPS6KC10.11759291
97ICK0.11387926
98PDK10.10732456
99BMX0.10569872
100DAPK20.09574428
101RAF10.08312366
102RPS6KA10.08144197
103RPS6KA60.07943122
104INSRR0.05862949
105BRAF0.05811637
106ZAP700.05533529
107MTOR0.05401496
108NLK0.04987272
109GSK3A0.04591245
110PRKACG0.04144762
111MAPK100.04061793
112ROCK20.03866986
113JAK20.03854563
114RPS6KB20.03615889
115GSK3B0.02738005
116MAPK80.02694156
117RET0.02370584
118STK110.01931814
119CSNK1D0.01738403
120SGK30.01570388
121FGFR30.01343702
122CAMK2D0.00826288
123KSR10.00815378
124PTK2B0.00779428
125RPS6KA2-0.0196481
126PDGFRA-0.0091165
127MAPK9-0.0069329

Predicted pathways (KEGG)

RankGene SetZ-score
1Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054104.23970502
2Citrate cycle (TCA cycle)_Homo sapiens_hsa000204.03403565
3Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054123.88340817
4Dilated cardiomyopathy_Homo sapiens_hsa054143.39359222
5Cardiac muscle contraction_Homo sapiens_hsa042603.37225614
6Starch and sucrose metabolism_Homo sapiens_hsa005003.20479454
72-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.18514965
8Glucagon signaling pathway_Homo sapiens_hsa049222.46956635
9Insulin signaling pathway_Homo sapiens_hsa049102.38841522
10Oxytocin signaling pathway_Homo sapiens_hsa049212.35722077
11Circadian rhythm_Homo sapiens_hsa047102.30404789
12Insulin resistance_Homo sapiens_hsa049312.23064413
13Glycolysis / Gluconeogenesis_Homo sapiens_hsa000102.22948603
14Propanoate metabolism_Homo sapiens_hsa006402.19839068
15Carbon metabolism_Homo sapiens_hsa012002.13660362
16Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.85608108
17Adipocytokine signaling pathway_Homo sapiens_hsa049201.83731314
18Galactose metabolism_Homo sapiens_hsa000521.82649036
19AMPK signaling pathway_Homo sapiens_hsa041521.74595641
20Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.72385602
21Fructose and mannose metabolism_Homo sapiens_hsa000511.58943409
22Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.55668980
23Biosynthesis of amino acids_Homo sapiens_hsa012301.54362526
24* Calcium signaling pathway_Homo sapiens_hsa040201.49840816
25Tight junction_Homo sapiens_hsa045301.49217700
26Parkinsons disease_Homo sapiens_hsa050121.38548360
27Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.35109309
28Pyruvate metabolism_Homo sapiens_hsa006201.33947070
29Arginine and proline metabolism_Homo sapiens_hsa003301.29894973
30Fatty acid degradation_Homo sapiens_hsa000711.29686167
31Viral myocarditis_Homo sapiens_hsa054161.29313170
32Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.27871784
33Pentose phosphate pathway_Homo sapiens_hsa000301.24614721
34Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.21352991
35Vascular smooth muscle contraction_Homo sapiens_hsa042701.20504137
36Focal adhesion_Homo sapiens_hsa045101.19266934
37Alzheimers disease_Homo sapiens_hsa050101.15285167
38Oxidative phosphorylation_Homo sapiens_hsa001901.09435107
39Gastric acid secretion_Homo sapiens_hsa049711.08963890
40GnRH signaling pathway_Homo sapiens_hsa049121.07810181
41Central carbon metabolism in cancer_Homo sapiens_hsa052301.02629080
42Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.00375394
43Fatty acid metabolism_Homo sapiens_hsa012120.97990412
44* cGMP-PKG signaling pathway_Homo sapiens_hsa040220.97257220
45Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.91871746
46FoxO signaling pathway_Homo sapiens_hsa040680.89749508
47VEGF signaling pathway_Homo sapiens_hsa043700.83622931
48Longevity regulating pathway - mammal_Homo sapiens_hsa042110.83363357
49Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.82911072
50Arginine biosynthesis_Homo sapiens_hsa002200.78667070
51Fatty acid biosynthesis_Homo sapiens_hsa000610.78450617
52Renin secretion_Homo sapiens_hsa049240.77710724
53HIF-1 signaling pathway_Homo sapiens_hsa040660.76638400
54mTOR signaling pathway_Homo sapiens_hsa041500.73509445
55MAPK signaling pathway_Homo sapiens_hsa040100.67368557
56PPAR signaling pathway_Homo sapiens_hsa033200.62926858
57Platelet activation_Homo sapiens_hsa046110.62716157
58Leukocyte transendothelial migration_Homo sapiens_hsa046700.56155141
59Amoebiasis_Homo sapiens_hsa051460.54545855
60Regulation of actin cytoskeleton_Homo sapiens_hsa048100.53822101
61Thyroid hormone signaling pathway_Homo sapiens_hsa049190.53667903
62Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.50898858
63Adherens junction_Homo sapiens_hsa045200.50890243
64Proteoglycans in cancer_Homo sapiens_hsa052050.49541826
65Insulin secretion_Homo sapiens_hsa049110.47471758
66beta-Alanine metabolism_Homo sapiens_hsa004100.46870533
67Type II diabetes mellitus_Homo sapiens_hsa049300.43284618
68Long-term depression_Homo sapiens_hsa047300.43128876
69Huntingtons disease_Homo sapiens_hsa050160.42771637
70Regulation of autophagy_Homo sapiens_hsa041400.36728749
71Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.35931755
72Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.35757026
73Aldosterone synthesis and secretion_Homo sapiens_hsa049250.35575812
74Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.35203261
75Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.33228975
76ECM-receptor interaction_Homo sapiens_hsa045120.32483309
77Lysine degradation_Homo sapiens_hsa003100.31851536
78Renal cell carcinoma_Homo sapiens_hsa052110.31844882
79Fatty acid elongation_Homo sapiens_hsa000620.31302862
80Phenylalanine metabolism_Homo sapiens_hsa003600.29890921
81Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.29712971
82Tryptophan metabolism_Homo sapiens_hsa003800.28965173
83Butanoate metabolism_Homo sapiens_hsa006500.27359102
84alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.26993196
85Nitrogen metabolism_Homo sapiens_hsa009100.25378622
86AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.25367885
87Amphetamine addiction_Homo sapiens_hsa050310.24986717
88Purine metabolism_Homo sapiens_hsa002300.22725555
89Histidine metabolism_Homo sapiens_hsa003400.22555812
90Cholinergic synapse_Homo sapiens_hsa047250.21738196
91cAMP signaling pathway_Homo sapiens_hsa040240.21571812
92Melanogenesis_Homo sapiens_hsa049160.20589456
93Linoleic acid metabolism_Homo sapiens_hsa005910.20378866
94Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.18014680
95Fat digestion and absorption_Homo sapiens_hsa049750.17632350
96Phototransduction_Homo sapiens_hsa047440.15400459
97Oocyte meiosis_Homo sapiens_hsa041140.15231954
98Glycerophospholipid metabolism_Homo sapiens_hsa005640.14833284
99Long-term potentiation_Homo sapiens_hsa047200.14325814
100Prolactin signaling pathway_Homo sapiens_hsa049170.13755624
101Circadian entrainment_Homo sapiens_hsa047130.13442823
102Olfactory transduction_Homo sapiens_hsa047400.12838110
103Sulfur relay system_Homo sapiens_hsa041220.12528908
104Neurotrophin signaling pathway_Homo sapiens_hsa047220.12487741
105Acute myeloid leukemia_Homo sapiens_hsa052210.10424067
106Basal cell carcinoma_Homo sapiens_hsa052170.10319015
107Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.10267968
108Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.10117582
109Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.08090672
110Peroxisome_Homo sapiens_hsa041460.07383823
111Glioma_Homo sapiens_hsa052140.06224979
112Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.05485734
113Tyrosine metabolism_Homo sapiens_hsa003500.04525854
114Bile secretion_Homo sapiens_hsa049760.04315642
115ABC transporters_Homo sapiens_hsa020100.04209840
116Salivary secretion_Homo sapiens_hsa049700.04190576
117Thyroid cancer_Homo sapiens_hsa052160.04081199
118Carbohydrate digestion and absorption_Homo sapiens_hsa049730.03680898

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