ACTA1

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 product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause nemaline myopathy type 3, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1sarcoplasmic reticulum calcium ion transport (GO:0070296)9.79767207
2plasma membrane repair (GO:0001778)9.49485592
3* actin filament-based movement (GO:0030048)8.49815946
4sarcomere organization (GO:0045214)7.57570885
5* skeletal muscle fiber development (GO:0048741)7.31054849
6skeletal muscle adaptation (GO:0043501)7.29066396
7striated muscle contraction (GO:0006941)7.23435923
8negative regulation of potassium ion transmembrane transporter activity (GO:1901017)6.93731726
9response to stimulus involved in regulation of muscle adaptation (GO:0014874)6.45902104
10myofibril assembly (GO:0030239)6.33328723
11response to inactivity (GO:0014854)6.25308286
12* myotube cell development (GO:0014904)6.15662912
13positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)6.07412091
14* muscle contraction (GO:0006936)5.83157770
15striated muscle atrophy (GO:0014891)5.59488969
16negative regulation of potassium ion transmembrane transport (GO:1901380)5.49531992
17cytidine deamination (GO:0009972)5.41862705
18cytidine metabolic process (GO:0046087)5.41862705
19cytidine catabolic process (GO:0006216)5.41862705
20response to muscle activity (GO:0014850)5.37217782
21regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.35015972
22actomyosin structure organization (GO:0031032)5.34894038
23pyrimidine ribonucleoside catabolic process (GO:0046133)5.29904719
24regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)5.24123697
25* muscle system process (GO:0003012)5.21670998
26regulation of cell communication by electrical coupling (GO:0010649)5.18860723
27positive regulation of myotube differentiation (GO:0010831)5.15787810
28NADH metabolic process (GO:0006734)5.15408809
29skeletal muscle tissue regeneration (GO:0043403)5.03636131
30myoblast fusion (GO:0007520)4.95900558
31creatine metabolic process (GO:0006600)4.91621265
32striated muscle adaptation (GO:0014888)4.85681825
33muscle atrophy (GO:0014889)4.82128690
34* muscle fiber development (GO:0048747)4.78010829
35muscle cell cellular homeostasis (GO:0046716)4.74059259
36cardiac muscle contraction (GO:0060048)4.69093815
37cardiac muscle hypertrophy (GO:0003300)4.67168658
38cardiac myofibril assembly (GO:0055003)4.58726219
39glycogen catabolic process (GO:0005980)4.57182255
40regulation of skeletal muscle cell differentiation (GO:2001014)4.48674257
41muscle cell fate commitment (GO:0042693)4.47998596
42striated muscle hypertrophy (GO:0014897)4.45795618
43syncytium formation by plasma membrane fusion (GO:0000768)4.44883774
44skeletal muscle tissue development (GO:0007519)4.44722809
45carnitine shuttle (GO:0006853)4.38658896
46muscle organ development (GO:0007517)4.38403982
47muscle organ morphogenesis (GO:0048644)4.34627931
48syncytium formation (GO:0006949)4.31816772
49muscle structure development (GO:0061061)4.30719917
50positive regulation of mitochondrial calcium ion concentration (GO:0051561)4.28126086
51glucan catabolic process (GO:0009251)4.27638895
52regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)4.24344818
53regulation of relaxation of muscle (GO:1901077)4.23867054
542-oxoglutarate metabolic process (GO:0006103)4.23670730
55fructose metabolic process (GO:0006000)4.17847551
56regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)4.11818287
57muscle tissue morphogenesis (GO:0060415)4.11328394
58glucan biosynthetic process (GO:0009250)4.10947676
59glycogen biosynthetic process (GO:0005978)4.10947676
60positive regulation of myoblast differentiation (GO:0045663)4.06732398
61regulation of striated muscle contraction (GO:0006942)4.03623710
62muscle hypertrophy (GO:0014896)3.97497740
63* striated muscle cell development (GO:0055002)3.97121353
64cellular polysaccharide catabolic process (GO:0044247)3.95458132
65gluconeogenesis (GO:0006094)3.94561050
66cardiac muscle tissue morphogenesis (GO:0055008)3.94481431
67muscle adaptation (GO:0043500)3.93921630
68adult heart development (GO:0007512)3.92739490
69positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.79889049
70polysaccharide catabolic process (GO:0000272)3.79566797
71cardiac muscle cell development (GO:0055013)3.78508341
72regulation of acyl-CoA biosynthetic process (GO:0050812)3.74056051
73myotube differentiation (GO:0014902)3.71474162
74fatty acid transmembrane transport (GO:1902001)3.70766344
75negative regulation of muscle hypertrophy (GO:0014741)3.69352180
76purine nucleotide salvage (GO:0032261)3.62595147
77negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.61432186
78negative regulation of calcium ion transmembrane transport (GO:1903170)3.61432186
79regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.61410300
80tricarboxylic acid cycle (GO:0006099)3.60017864
81neuronal action potential propagation (GO:0019227)3.57785017
82cardiac muscle hypertrophy in response to stress (GO:0014898)3.56575102
83muscle hypertrophy in response to stress (GO:0003299)3.56575102
84cardiac muscle adaptation (GO:0014887)3.56575102
85cardiac cell development (GO:0055006)3.54534168
86negative regulation of protein localization to cell surface (GO:2000009)3.53178333
87hexose biosynthetic process (GO:0019319)3.52328008
88regulation of the force of heart contraction (GO:0002026)3.51352101
89regulation of myoblast differentiation (GO:0045661)3.51185845
90regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.49962816
91negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)3.47536463
92* muscle cell development (GO:0055001)3.42935188
93regulation of sequestering of triglyceride (GO:0010889)3.40912394
94regulation of calcium ion transmembrane transporter activity (GO:1901019)3.40625134
95regulation of calcium ion transmembrane transport (GO:1903169)3.40625134
96negative regulation of muscle contraction (GO:0045932)3.40506069
97ubiquinone biosynthetic process (GO:0006744)3.40447420
98neuromuscular synaptic transmission (GO:0007274)3.39211413
99regulation of coenzyme metabolic process (GO:0051196)3.39122283
100regulation of cofactor metabolic process (GO:0051193)3.39122283
101regulation of membrane repolarization (GO:0060306)3.36485540
102striated muscle tissue development (GO:0014706)3.36443754
103negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.34100574
104glycogen metabolic process (GO:0005977)3.33531806
105regulation of sarcomere organization (GO:0060297)3.32626454
106response to activity (GO:0014823)3.32229456
107neuromuscular junction development (GO:0007528)3.28194916
108glucan metabolic process (GO:0044042)3.26771330
109cellular glucan metabolic process (GO:0006073)3.26771330
110regulation of actin filament-based movement (GO:1903115)3.22467578
111IMP metabolic process (GO:0046040)3.20242557
112carnitine transmembrane transport (GO:1902603)3.20056541
113regulation of muscle system process (GO:0090257)3.19231690
114regulation of myotube differentiation (GO:0010830)3.19101899
115heart contraction (GO:0060047)3.19093029
116heart process (GO:0003015)3.19093029
117regulation of muscle contraction (GO:0006937)3.15122142
118negative regulation of cell size (GO:0045792)3.14778317
119negative regulation of skeletal muscle tissue development (GO:0048642)3.12008017
120positive regulation of skeletal muscle tissue development (GO:0048643)3.11294295
121negative regulation of cardiac muscle tissue growth (GO:0055022)3.09853536
122* muscle filament sliding (GO:0030049)13.8973782
123* actin-myosin filament sliding (GO:0033275)13.8973782
124skeletal muscle contraction (GO:0003009)11.7806171
125regulation of skeletal muscle contraction (GO:0014819)11.4725994
126* actin-mediated cell contraction (GO:0070252)11.3740719

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human6.33397631
2EZH2_22144423_ChIP-Seq_EOC_Human4.95864102
3PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.43461559
4ESR1_20079471_ChIP-ChIP_T-47D_Human3.93991282
5TP63_17297297_ChIP-ChIP_HaCaT_Human3.43144388
6RARG_19884340_ChIP-ChIP_MEFs_Mouse3.26436603
7TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.05604463
8TBX20_22328084_ChIP-Seq_HEART_Mouse2.84944300
9TBX20_22080862_ChIP-Seq_HEART_Mouse2.84944300
10ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.63602710
11ZNF263_19887448_ChIP-Seq_K562_Human2.59923236
12ZNF652_21678463_ChIP-ChIP_ZR75-1_Human2.40549962
13MEF2A_21415370_ChIP-Seq_HL-1_Mouse2.24173141
14THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.20968358
15ESR1_21235772_ChIP-Seq_MCF-7_Human2.17066489
16ESR2_21235772_ChIP-Seq_MCF-7_Human2.09378633
17TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.04988896
18EP300_21415370_ChIP-Seq_HL-1_Mouse2.04963291
19CLOCK_20551151_ChIP-Seq_293T_Human1.94851519
20CDX2_19796622_ChIP-Seq_MESCs_Mouse1.94079911
21CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.78032794
22RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.75981888
23GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.71599086
24TRIM28_21343339_ChIP-Seq_HEK293_Human1.67633032
25CTCF_27219007_Chip-Seq_Bcells_Human1.65596873
26RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.58916299
27PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.58749058
28SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.58507349
29EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.57921103
30ZFP281_18757296_ChIP-ChIP_E14_Mouse1.57651312
31PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.56882324
32CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.54969227
33BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.54488457
34CTCF_21964334_ChIP-Seq_BJAB-B_Human1.53494237
35BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.52639868
36NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.48996580
37TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.46752875
38NFIB_24661679_ChIP-Seq_LUNG_Mouse1.46676917
39NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.42217458
40* LXR_22292898_ChIP-Seq_THP-1_Human1.41771428
41P63_26484246_Chip-Seq_KERATINOCYTES_Human1.40833055
42* TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.39818647
43RACK7_27058665_Chip-Seq_MCF-7_Human1.38875958
44UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.38035565
45ATF3_27146783_Chip-Seq_COLON_Human1.36736715
46KDM2B_26808549_Chip-Seq_DND41_Human1.36028675
47SMC1_22415368_ChIP-Seq_MEFs_Mouse1.35681436
48CTCF_21964334_Chip-Seq_Bcells_Human1.34609276
49TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.34554184
50EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.31888093
51RBPJ_22232070_ChIP-Seq_NCS_Mouse1.30972110
52SMC3_22415368_ChIP-Seq_MEFs_Mouse1.30653730
53ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.28979467
54DNAJC2_21179169_ChIP-ChIP_NT2_Human1.28903968
55ZNF274_21170338_ChIP-Seq_K562_Hela1.27710361
56ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.27587907
57STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.27109389
58SA1_27219007_Chip-Seq_Bcells_Human1.26555382
59ELK3_25401928_ChIP-Seq_HUVEC_Human1.25469463
60FOXH1_21741376_ChIP-Seq_ESCs_Human1.25076721
61GATA4_21415370_ChIP-Seq_HL-1_Mouse1.21441725
62NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.21340920
63LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.21239357
64CJUN_26792858_Chip-Seq_BT549_Human1.21179106
65* RARB_27405468_Chip-Seq_BRAIN_Mouse1.19980479
66P300_27058665_Chip-Seq_ZR-75-30cells_Human1.18919128
67HIF1A_21447827_ChIP-Seq_MCF-7_Human1.18564266
68PPARA_22158963_ChIP-Seq_LIVER_Mouse1.18052559
69MYC_27129775_Chip-Seq_CORNEA_Mouse1.17319206
70KDM2B_26808549_Chip-Seq_SUP-B15_Human1.17074026
71KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.15472171
72PPAR_26484153_Chip-Seq_NCI-H1993_Human1.14724475
73WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.14100877
74RXR_22158963_ChIP-Seq_LIVER_Mouse1.12782428
75IGF1R_20145208_ChIP-Seq_DFB_Human1.12466052
76E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.10118063
77STAT1_20625510_ChIP-Seq_HELA_Human1.08917444
78TP63_22573176_ChIP-Seq_HFKS_Human1.07156658
79STAT6_21828071_ChIP-Seq_BEAS2B_Human1.06516013
80TP53_20018659_ChIP-ChIP_R1E_Mouse1.06315732
81OCT4_20526341_ChIP-Seq_ESCs_Human1.06162999
82KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.05026746
83CTCF_27219007_Chip-Seq_ERYTHROID_Human1.02633402
84YY1_22570637_ChIP-Seq_MALME-3M_Human1.02401078
85GATA1_19941827_ChIP-Seq_MEL_Mouse1.01203673
86SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.99000344
87CREB1_26743006_Chip-Seq_LNCaP_Human0.97278999
88SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.96907360
89SA1_27219007_Chip-Seq_ERYTHROID_Human0.96841585
90FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.96592784
91P68_20966046_ChIP-Seq_HELA_Human0.96246454
92* EZH2_27294783_Chip-Seq_ESCs_Mouse0.96229052
93CRX_20693478_ChIP-Seq_RETINA_Mouse0.96122424
94TCF7_22412390_ChIP-Seq_EML_Mouse0.95457003
95P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.95240568
96MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.94775300
97* GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.94268383
98EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.94087985
99TDRD3_21172665_ChIP-Seq_MCF-7_Human0.93785854
100RUNX1_27514584_Chip-Seq_MCF-7_Human0.93735695
101CBX2_27304074_Chip-Seq_ESCs_Mouse0.93704749
102E2F1_20622854_ChIP-Seq_HELA_Human0.92882099
103ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.92318183
104SUZ12_27294783_Chip-Seq_NPCs_Mouse0.91630968
105RAD21_21589869_ChIP-Seq_MESCs_Mouse0.91081192
106KDM2B_26808549_Chip-Seq_K562_Human0.90393706
107DROSHA_22980978_ChIP-Seq_HELA_Human0.90035102
108ELF1_20517297_ChIP-Seq_JURKAT_Human0.89999428
109ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.89855252
110BCL6_27268052_Chip-Seq_Bcells_Human0.89747554
111PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.89392067
112EGR1_19032775_ChIP-ChIP_M12_Human0.88995642
113STAT3_1855785_ChIP-Seq_MESCs_Mouse0.88576726
114LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.88391581
115CSB_26484114_Chip-Seq_FIBROBLAST_Human0.87889088
116LXR_22158963_ChIP-Seq_LIVER_Mouse0.85580352
117CEBPB_22108803_ChIP-Seq_LS180_Human0.85143963
118P53_22127205_ChIP-Seq_FIBROBLAST_Human0.85017686
119SOX9_24532713_ChIP-Seq_HFSC_Mouse0.84124990
120AR_21572438_ChIP-Seq_LNCaP_Human0.84122270
121SPI1_20517297_ChIP-Seq_HL60_Human0.83918274
122* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.83326399
123OCT4_21477851_ChIP-Seq_ESCs_Mouse0.83257680
124EZH2_27294783_Chip-Seq_NPCs_Mouse0.81641981
125NANOG_20526341_ChIP-Seq_ESCs_Human0.81558639
126GATA3_21867929_ChIP-Seq_CD8_Mouse0.81407168
127CTCF_26484167_Chip-Seq_Bcells_Mouse0.81365154
128DPY_21335234_ChIP-Seq_ESCs_Mouse0.81354199
129CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.80453246
130FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.80297280
131NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.80281073
132ERG_21242973_ChIP-ChIP_JURKAT_Human0.80124228
133RAC3_21632823_ChIP-Seq_H3396_Human0.79922811
134MTF2_20144788_ChIP-Seq_MESCs_Mouse0.79647606
135PCGF2_27294783_Chip-Seq_ESCs_Mouse0.79453869
136HTT_18923047_ChIP-ChIP_STHdh_Human0.75506201
137MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.72723553

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000749_muscle_degeneration6.87511594
2MP0004145_abnormal_muscle_electrophysio6.64135417
3MP0000751_myopathy6.36402914
4MP0003646_muscle_fatigue5.07404147
5MP0002837_dystrophic_cardiac_calcinosis4.40692581
6* MP0002106_abnormal_muscle_physiology4.05594520
7* MP0000747_muscle_weakness3.91981156
8MP0004036_abnormal_muscle_relaxation3.88909113
9MP0000750_abnormal_muscle_regeneration3.74036116
10* MP0000759_abnormal_skeletal_muscle3.71210792
11* MP0004087_abnormal_muscle_fiber3.61139125
12MP0002269_muscular_atrophy3.48430475
13* MP0005369_muscle_phenotype3.37391478
14MP0005620_abnormal_muscle_contractility3.04237207
15MP0004084_abnormal_cardiac_muscle2.76600081
16MP0004130_abnormal_muscle_cell2.57229050
17MP0004233_abnormal_muscle_weight2.50042483
18* MP0000733_abnormal_muscle_development2.47192813
19MP0005330_cardiomyopathy2.45605485
20MP0002108_abnormal_muscle_morphology2.06875794
21MP0004215_abnormal_myocardial_fiber2.01908594
22MP0004270_analgesia1.96545380
23MP0002332_abnormal_exercise_endurance1.82954071
24MP0002972_abnormal_cardiac_muscle1.73354796
25MP0003950_abnormal_plasma_membrane1.68961889
26MP0010630_abnormal_cardiac_muscle1.58998512
27MP0004484_altered_response_of1.55645132
28MP0005275_abnormal_skin_tensile1.54449471
29MP0006036_abnormal_mitochondrial_physio1.48681413
30MP0004185_abnormal_adipocyte_glucose1.38561580
31MP0003705_abnormal_hypodermis_morpholog1.21076182
32MP0005666_abnormal_adipose_tissue1.20671110
33MP0001544_abnormal_cardiovascular_syste1.16942023
34MP0005385_cardiovascular_system_phenoty1.16942023
35MP0003221_abnormal_cardiomyocyte_apopto1.15225542
36* MP0002971_abnormal_brown_adipose1.13002132
37MP0003137_abnormal_impulse_conducting1.03399663
38MP0000013_abnormal_adipose_tissue1.03185906
39MP0002822_catalepsy1.00766676
40MP0002234_abnormal_pharynx_morphology0.99767411
41MP0008438_abnormal_cutaneous_collagen0.99109236
42MP0005375_adipose_tissue_phenotype0.95628358
43MP0005266_abnormal_metabolism0.91271872
44MP0001661_extended_life_span0.88224684
45MP0006138_congestive_heart_failure0.87447066
46MP0008775_abnormal_heart_ventricle0.87326594
47MP0004134_abnormal_chest_morphology0.75210445
48MP0001299_abnormal_eye_distance/0.75174092
49MP0003806_abnormal_nucleotide_metabolis0.75120236
50MP0004510_myositis0.73729740
51MP0000762_abnormal_tongue_morphology0.72741401
52MP0005503_abnormal_tendon_morphology0.70231132
53MP0006035_abnormal_mitochondrial_morpho0.69727788
54MP0009250_abnormal_appendicular_skeleto0.67083732
55MP0003828_pulmonary_edema0.65485770
56MP0002127_abnormal_cardiovascular_syste0.64841601
57MP0000266_abnormal_heart_morphology0.63557048
58MP0002796_impaired_skin_barrier0.62699808
59MP0000003_abnormal_adipose_tissue0.61028611
60MP0005670_abnormal_white_adipose0.59939266
61MP0003879_abnormal_hair_cell0.56889899
62MP0004085_abnormal_heartbeat0.56150575
63MP0000343_altered_response_to0.54954167
64MP0001346_abnormal_lacrimal_gland0.54199220
65MP0000579_abnormal_nail_morphology0.52615659
66MP0003566_abnormal_cell_adhesion0.52283536
67MP0008961_abnormal_basal_metabolism0.49857012
68MP0005623_abnormal_meninges_morphology0.44796968
69MP0008569_lethality_at_weaning0.44621723
70MP0002896_abnormal_bone_mineralization0.44160740
71MP0003941_abnormal_skin_development0.43878044
72MP0000372_irregular_coat_pigmentation0.42359998
73MP0009780_abnormal_chondrocyte_physiolo0.42157710
74MP0003567_abnormal_fetal_cardiomyocyte0.41830118
75MP0003948_abnormal_gas_homeostasis0.41433647
76MP0001243_abnormal_dermal_layer0.41087318
77MP0005376_homeostasis/metabolism_phenot0.40691131
78MP0000767_abnormal_smooth_muscle0.40015140
79MP0004147_increased_porphyrin_level0.39034104
80MP0003045_fibrosis0.38310462
81MP0002249_abnormal_larynx_morphology0.38305342
82MP0002128_abnormal_blood_circulation0.38173055
83MP0003279_aneurysm0.37900642
84MP0005334_abnormal_fat_pad0.37638290
85MP0002638_abnormal_pupillary_reflex0.37519065
86MP0003656_abnormal_erythrocyte_physiolo0.37281726
87MP0005501_abnormal_skin_physiology0.37209508
88MP0005319_abnormal_enzyme/_coenzyme0.37049560
89MP0005167_abnormal_blood-brain_barrier0.36857790
90* MP0002114_abnormal_axial_skeleton0.36338141
91MP0005584_abnormal_enzyme/coenzyme_acti0.36186106
92MP0005166_decreased_susceptibility_to0.36108104
93MP0003385_abnormal_body_wall0.35955166
94MP0010030_abnormal_orbit_morphology0.35606772
95MP0005083_abnormal_biliary_tract0.35321493
96MP0005535_abnormal_body_temperature0.35127675
97MP0004142_abnormal_muscle_tone0.35022290
98MP0004272_abnormal_basement_membrane0.34360715
99* MP0002078_abnormal_glucose_homeostasis0.34019152
100MP0002060_abnormal_skin_morphology0.33984305
101MP0003959_abnormal_lean_body0.32532259
102MP0009672_abnormal_birth_weight0.31246487
103* MP0005452_abnormal_adipose_tissue0.30406551
104MP0001943_abnormal_respiration0.30369343
105MP0005332_abnormal_amino_acid0.28978926
106MP0004043_abnormal_pH_regulation0.27687566
107MP0001542_abnormal_bone_strength0.27028285
108MP0005451_abnormal_body_composition0.26923025
109MP0005165_increased_susceptibility_to0.26091267
110MP0009115_abnormal_fat_cell0.25828035
111MP0001849_ear_inflammation0.25766798
112MP0000230_abnormal_systemic_arterial0.25216263
113MP0002734_abnormal_mechanical_nocicepti0.24806598
114MP0002066_abnormal_motor_capabilities/c0.21306037
115MP0005423_abnormal_somatic_nervous0.21085502
116MP0005187_abnormal_penis_morphology0.19808482
117MP0004858_abnormal_nervous_system0.17423440
118MP0006276_abnormal_autonomic_nervous0.15370232
119MP0009840_abnormal_foam_cell0.13717563
120MP0002067_abnormal_sensory_capabilities0.12877806
121MP0008874_decreased_physiological_sensi0.11959884

Predicted human phenotypes

RankGene SetZ-score
1* Muscle fiber inclusion bodies (HP:0100299)9.68375975
2* Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)9.35759951
3* Nemaline bodies (HP:0003798)8.73779210
4Distal arthrogryposis (HP:0005684)7.93854159
5* Type 1 muscle fiber predominance (HP:0003803)7.47189900
6Exercise-induced myalgia (HP:0003738)7.08793655
7Round ear (HP:0100830)6.69450174
8Ulnar deviation of the wrist (HP:0003049)6.42799259
9Exercise-induced muscle cramps (HP:0003710)6.30482619
10Muscle hypertrophy of the lower extremities (HP:0008968)5.87274888
11Calf muscle hypertrophy (HP:0008981)5.63849579
12Calcaneovalgus deformity (HP:0001848)5.57120466
13* Myopathic facies (HP:0002058)5.45573014
14Muscle fiber splitting (HP:0003555)5.35923251
15Deformed tarsal bones (HP:0008119)5.13530289
16Difficulty running (HP:0009046)4.94884469
17Absent phalangeal crease (HP:0006109)4.93361497
18Fetal akinesia sequence (HP:0001989)4.89395390
19Hyporeflexia of lower limbs (HP:0002600)4.88524290
20Malignant hyperthermia (HP:0002047)4.77894905
21Abnormality of the calf musculature (HP:0001430)4.48038353
22Increased connective tissue (HP:0009025)4.34520248
23* EMG: myopathic abnormalities (HP:0003458)4.19863096
24Abnormal finger flexion creases (HP:0006143)4.11713627
25Myoglobinuria (HP:0002913)3.97928704
26Increased variability in muscle fiber diameter (HP:0003557)3.86197129
27Popliteal pterygium (HP:0009756)3.76249461
28Difficulty climbing stairs (HP:0003551)3.63460097
29* Abnormality of skeletal muscle fiber size (HP:0012084)3.62911691
30Abnormality of the neuromuscular junction (HP:0003398)3.61365841
31Fatigable weakness (HP:0003473)3.61365841
32* Centrally nucleated skeletal muscle fibers (HP:0003687)3.56938633
33Muscle stiffness (HP:0003552)3.49904409
34Myotonia (HP:0002486)3.46165892
35Abnormality of the calcaneus (HP:0008364)3.42647317
36* Neck muscle weakness (HP:0000467)3.34876865
37Rhabdomyolysis (HP:0003201)3.28034575
38Abnormality of placental membranes (HP:0011409)3.24483721
39Amniotic constriction ring (HP:0009775)3.24483721
40Abnormality of the left ventricular outflow tract (HP:0011103)3.19495963
41Subaortic stenosis (HP:0001682)3.19495963
42Aplasia of the musculature (HP:0100854)3.18165782
43Sudden death (HP:0001699)3.16967979
44Bundle branch block (HP:0011710)3.13692432
45Gowers sign (HP:0003391)3.10491746
46Rimmed vacuoles (HP:0003805)2.90953996
47Type 2 muscle fiber atrophy (HP:0003554)2.86466812
48Hip contracture (HP:0003273)2.79942753
49Areflexia of lower limbs (HP:0002522)2.76315690
50Scapular winging (HP:0003691)2.61918951
51Asymmetric septal hypertrophy (HP:0001670)2.59931261
52Muscle fiber atrophy (HP:0100295)2.58528758
53* Bulbar palsy (HP:0001283)2.50623805
54Facial diplegia (HP:0001349)2.49921271
55Distal lower limb muscle weakness (HP:0009053)2.47112633
56Shoulder girdle muscle weakness (HP:0003547)2.45620521
57Pelvic girdle muscle weakness (HP:0003749)2.44970798
58Akinesia (HP:0002304)2.43511107
59Abnormality of the musculature of the pelvis (HP:0001469)2.41818012
60Abnormality of the hip-girdle musculature (HP:0001445)2.41818012
61* Generalized muscle weakness (HP:0003324)2.41049767
62Distal lower limb amyotrophy (HP:0008944)2.40395151
63* Dilated cardiomyopathy (HP:0001644)2.39096789
64Long clavicles (HP:0000890)2.36281667
65Metatarsus adductus (HP:0001840)2.35216980
66* Weak cry (HP:0001612)2.32649364
67Limb-girdle muscle atrophy (HP:0003797)2.28608419
68* Mildly elevated creatine phosphokinase (HP:0008180)2.23559358
69Abnormality of the shoulder girdle musculature (HP:0001435)2.18036286
70Muscular dystrophy (HP:0003560)2.14109782
71Abnormality of the foot musculature (HP:0001436)2.14049952
72Proximal amyotrophy (HP:0007126)2.13444553
73Easy fatigability (HP:0003388)2.12950591
74* Frequent falls (HP:0002359)2.11951239
75Ulnar deviation of finger (HP:0009465)2.09303359
76Progressive muscle weakness (HP:0003323)2.06629029
77Heart block (HP:0012722)2.05810567
78Ventricular tachycardia (HP:0004756)2.04831672
79Hyperkalemia (HP:0002153)2.03934844
80Hypoplastic ischia (HP:0003175)2.01286563
81Trismus (HP:0000211)2.01197701
82Limb-girdle muscle weakness (HP:0003325)2.00001706
83Ragged-red muscle fibers (HP:0003200)1.98166843
84Right ventricular cardiomyopathy (HP:0011663)1.97410612
85Nonprogressive disorder (HP:0003680)1.97354062
86Pterygium (HP:0001059)1.95775843
87Foot dorsiflexor weakness (HP:0009027)1.94174137
88Hypoplastic heart (HP:0001961)1.93719109
89Abnormal atrioventricular conduction (HP:0005150)1.93594523
90Limited hip movement (HP:0008800)1.92616797
91Thin ribs (HP:0000883)1.90802553
92* EMG: neuropathic changes (HP:0003445)1.89646959
93Exercise intolerance (HP:0003546)1.89202911
94Breech presentation (HP:0001623)1.86586247
95Lipoatrophy (HP:0100578)1.83988658
96Tarsal synostosis (HP:0008368)1.81179767
97Lower limb amyotrophy (HP:0007210)1.80192236
98Symphalangism affecting the phalanges of the hand (HP:0009773)1.79814634
99* Respiratory insufficiency due to muscle weakness (HP:0002747)1.79672143
100* Spinal rigidity (HP:0003306)1.78844566
101Ventricular arrhythmia (HP:0004308)1.77821099
102Aplasia/Hypoplasia involving the musculature (HP:0001460)1.77336459
103Abnormality of the ischium (HP:0003174)1.74294502
104Paralysis (HP:0003470)1.72473734
105Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.72193714
106Webbed neck (HP:0000465)1.68544539
107Ulnar deviation of the hand or of fingers of the hand (HP:0001193)1.68488761
108* Waddling gait (HP:0002515)1.66783482
109Increased intramyocellular lipid droplets (HP:0012240)1.66767827
110Synostosis involving bones of the lower limbs (HP:0009138)1.62589290
111Synostosis involving bones of the feet (HP:0009140)1.62589290
112Increased muscle lipid content (HP:0009058)1.54287740
113Adducted thumb (HP:0001181)1.34122943
114Steppage gait (HP:0003376)1.33494219
115Generalized amyotrophy (HP:0003700)1.28425088
116Ventricular fibrillation (HP:0001663)1.25562559
117Short palpebral fissure (HP:0012745)1.23715333

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN9.52618169
2TTN5.85274245
3PIK3CG5.32402595
4PHKG24.22042683
5PHKG14.22042683
6NME13.11347185
7MUSK2.75884488
8TRIB32.64127443
9MAP2K32.38518886
10NEK11.98437355
11DMPK1.91948606
12PDK31.84307983
13PDK41.84307983
14MAP3K71.76928486
15PIK3CA1.59203052
16MAPK121.56585574
17PINK11.51878120
18PKN21.31549172
19MAPKAPK31.31209466
20MOS1.28701036
21BCKDK1.18867433
22PDK21.14685096
23MAP2K41.12647490
24MAP2K60.99875780
25MARK10.98185713
26MAP3K30.97803438
27CCNB10.88108513
28ILK0.80656861
29TRPM70.79019996
30EPHB10.77356974
31AKT20.77291600
32RIPK10.76662715
33MAP3K130.71215344
34STK240.70546511
35LIMK10.69227096
36PRKAA10.63558977
37CAMK40.60568068
38MAP3K100.60061805
39EEF2K0.60031658
40SIK10.57885067
41MAPK110.57766976
42PRKAA20.56078251
43ROCK10.55671728
44CAMK2G0.55660524
45ZAK0.55073769
46MAP2K10.54592368
47MAP3K50.54528653
48NEK90.54284390
49PIM20.50230808
50TAOK20.46681422
51PTK60.46122813
52TAOK10.45711344
53MAP3K110.41951073
54ICK0.41698761
55CAMK10.41562448
56SGK30.41096975
57CAMK2B0.40998058
58ROCK20.39485048
59ERN10.37105174
60ERBB30.36249259
61PRKG10.35953345
62MYLK0.35017031
63ARAF0.34764145
64DYRK1B0.34481263
65PRKD10.30966771
66TBK10.30278045
67LATS20.30182560
68PRKACB0.29794555
69DDR20.29254158
70TIE10.28252511
71CDK190.27407478
72PRPF4B0.27137736
73RPS6KA30.26627300
74LRRK20.26437588
75SGK20.24904457
76LATS10.24784014
77MAPK130.24570791
78PDGFRA0.24513631
79RPS6KB10.24233717
80FER0.23840804
81PAK40.23768351
82SGK10.23292458
83PKN10.23093678
84MAPK40.21822056
85MTOR0.21341087
86MAPK70.21082570
87PDPK10.20096543
88KSR20.19813896
89PTK2B0.19455074
90RPS6KL10.18527351
91RPS6KC10.18527351
92TGFBR20.18493423
93CAMK2D0.18112925
94PRKACA0.17678374
95DAPK30.16688275
96MAP3K10.16060067
97EPHB20.15717128
98CDK60.15384621
99MARK20.15230031
100MAP3K60.14758707
101BRAF0.14152636
102RPS6KA60.13718583
103RAF10.13446679
104FGFR10.13332245
105RPS6KB20.12378426
106MAP3K90.12333976
107PRKACG0.11554749
108DAPK20.11418613
109CAMK2A0.10954670
110PDK10.10023894
111ZAP700.09373076
112STK38L0.09180683
113CDK140.08225747
114FLT30.08052981
115SGK2230.07920731
116SGK4940.07920731
117MAPKAPK20.07880943
118PAK60.07136325
119KSR10.07045933
120BMX0.06784894
121RPS6KA10.05676398
122MARK30.05101176
123RPS6KA20.05058386
124CDC42BPA0.04881918
125RET0.04703948
126CDK150.04066504
127MAPK100.03886516
128MAPK90.03817836
129STK110.03453893
130INSRR0.02996280
131MAPK80.02823427
132CSNK1D0.02511351
133CDK11A0.01971803
134GSK3B0.01752184

Predicted pathways (KEGG)

RankGene SetZ-score
1Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054105.08615191
2Dilated cardiomyopathy_Homo sapiens_hsa054144.52655482
3Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054124.30595371
4Citrate cycle (TCA cycle)_Homo sapiens_hsa000204.27603843
5Cardiac muscle contraction_Homo sapiens_hsa042604.25265415
62-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.21732369
7Starch and sucrose metabolism_Homo sapiens_hsa005002.32239045
8Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.07034436
9Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042612.05913956
10Carbon metabolism_Homo sapiens_hsa012002.03436879
11Oxytocin signaling pathway_Homo sapiens_hsa049211.97321988
12Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.89585901
13Propanoate metabolism_Homo sapiens_hsa006401.88055003
14Insulin signaling pathway_Homo sapiens_hsa049101.87075800
15Glucagon signaling pathway_Homo sapiens_hsa049221.86412196
16Tight junction_Homo sapiens_hsa045301.82877728
17Viral myocarditis_Homo sapiens_hsa054161.71823505
18Parkinsons disease_Homo sapiens_hsa050121.70862303
19Insulin resistance_Homo sapiens_hsa049311.68433758
20Alzheimers disease_Homo sapiens_hsa050101.57778447
21Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.57314821
22Focal adhesion_Homo sapiens_hsa045101.54099643
23Oxidative phosphorylation_Homo sapiens_hsa001901.45002567
24Biosynthesis of amino acids_Homo sapiens_hsa012301.39253681
25Adipocytokine signaling pathway_Homo sapiens_hsa049201.38522587
26Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.35667432
27Fatty acid degradation_Homo sapiens_hsa000711.34365340
28Calcium signaling pathway_Homo sapiens_hsa040201.32284405
29AMPK signaling pathway_Homo sapiens_hsa041521.31603598
30Circadian rhythm_Homo sapiens_hsa047101.31167507
31Galactose metabolism_Homo sapiens_hsa000521.30620354
32Pyruvate metabolism_Homo sapiens_hsa006201.22163219
33cGMP-PKG signaling pathway_Homo sapiens_hsa040221.17096679
34Vascular smooth muscle contraction_Homo sapiens_hsa042701.15863606
35Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.09545680
36Fructose and mannose metabolism_Homo sapiens_hsa000511.06471774
37Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.02426592
38Nitrogen metabolism_Homo sapiens_hsa009100.98540105
39Central carbon metabolism in cancer_Homo sapiens_hsa052300.98258896
40Fatty acid metabolism_Homo sapiens_hsa012120.97976406
41HIF-1 signaling pathway_Homo sapiens_hsa040660.92972866
42ECM-receptor interaction_Homo sapiens_hsa045120.88448013
43Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.85156632
44Long-term potentiation_Homo sapiens_hsa047200.84772858
45Proteoglycans in cancer_Homo sapiens_hsa052050.83603560
46Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.83439661
47GnRH signaling pathway_Homo sapiens_hsa049120.80764512
48Arginine and proline metabolism_Homo sapiens_hsa003300.80296573
49Gastric acid secretion_Homo sapiens_hsa049710.74418258
50Amoebiasis_Homo sapiens_hsa051460.74112542
51Leukocyte transendothelial migration_Homo sapiens_hsa046700.74069540
52Huntingtons disease_Homo sapiens_hsa050160.73888379
53Adherens junction_Homo sapiens_hsa045200.70433928
54Regulation of actin cytoskeleton_Homo sapiens_hsa048100.69731187
55FoxO signaling pathway_Homo sapiens_hsa040680.69104334
56VEGF signaling pathway_Homo sapiens_hsa043700.68887581
57Longevity regulating pathway - mammal_Homo sapiens_hsa042110.66991308
58MAPK signaling pathway_Homo sapiens_hsa040100.63830125
59Pentose phosphate pathway_Homo sapiens_hsa000300.62397789
60Renin secretion_Homo sapiens_hsa049240.62061042
61mTOR signaling pathway_Homo sapiens_hsa041500.60126691
62PPAR signaling pathway_Homo sapiens_hsa033200.58235536
63Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.56394909
64Arginine biosynthesis_Homo sapiens_hsa002200.53522782
65Platelet activation_Homo sapiens_hsa046110.52766480
66Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.52636810
67Fatty acid biosynthesis_Homo sapiens_hsa000610.51439709
68Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.48514798
69Insulin secretion_Homo sapiens_hsa049110.48269851
70Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.44795606
71Renal cell carcinoma_Homo sapiens_hsa052110.38872649
72Tryptophan metabolism_Homo sapiens_hsa003800.37708731
73Peroxisome_Homo sapiens_hsa041460.37463223
74Salivary secretion_Homo sapiens_hsa049700.34074391
75Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.33231442
76Phenylalanine metabolism_Homo sapiens_hsa003600.30983164
77Type II diabetes mellitus_Homo sapiens_hsa049300.30864813
78Aldosterone synthesis and secretion_Homo sapiens_hsa049250.28620668
79Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.28387389
80Lysine degradation_Homo sapiens_hsa003100.28258135
81AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.28179613
82Amphetamine addiction_Homo sapiens_hsa050310.27612146
83Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.26884020
84Histidine metabolism_Homo sapiens_hsa003400.25227806
85Bladder cancer_Homo sapiens_hsa052190.24574929
86Fatty acid elongation_Homo sapiens_hsa000620.23808699
87Melanogenesis_Homo sapiens_hsa049160.23472936
88beta-Alanine metabolism_Homo sapiens_hsa004100.22798187
89Butanoate metabolism_Homo sapiens_hsa006500.22258546
90Tyrosine metabolism_Homo sapiens_hsa003500.21833938
91Basal cell carcinoma_Homo sapiens_hsa052170.21416764
92Long-term depression_Homo sapiens_hsa047300.20639975
93Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.18246769
94Cholinergic synapse_Homo sapiens_hsa047250.18194458
95Chronic myeloid leukemia_Homo sapiens_hsa052200.17093733
96Purine metabolism_Homo sapiens_hsa002300.16385662
97Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.16264962
98Regulation of autophagy_Homo sapiens_hsa041400.15929884
99Sulfur relay system_Homo sapiens_hsa041220.14451121
100Salmonella infection_Homo sapiens_hsa051320.14362646
101Thyroid cancer_Homo sapiens_hsa052160.14271808
102Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.14089933
103Glioma_Homo sapiens_hsa052140.13722450
104Thyroid hormone signaling pathway_Homo sapiens_hsa049190.13421917
105Carbohydrate digestion and absorption_Homo sapiens_hsa049730.13106256
106Pancreatic secretion_Homo sapiens_hsa049720.13002391
107Acute myeloid leukemia_Homo sapiens_hsa052210.12912218
108Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.11968660
109Hippo signaling pathway_Homo sapiens_hsa043900.11251807
110Gap junction_Homo sapiens_hsa045400.10300993
111Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.09510135
112Metabolic pathways_Homo sapiens_hsa011000.09380468
113Bile secretion_Homo sapiens_hsa049760.09344889
114Neurotrophin signaling pathway_Homo sapiens_hsa047220.08822952
115Circadian entrainment_Homo sapiens_hsa047130.08808683
116Protein digestion and absorption_Homo sapiens_hsa049740.08774827
117Oocyte meiosis_Homo sapiens_hsa041140.08387600
118Toxoplasmosis_Homo sapiens_hsa051450.08348085
119cAMP signaling pathway_Homo sapiens_hsa040240.08148884
120Ovarian steroidogenesis_Homo sapiens_hsa049130.07460478
121Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.07167799
122Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.06149196
123Fat digestion and absorption_Homo sapiens_hsa049750.05547617

Most similar genes based on co-expression Upload to Enrichr

Tissue Expression Export image »

Cell Line Expression Export image »