ITGA7

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





Description: The protein encoded by this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. They mediate a wide spectrum of cell-cell and cell-matrix interactions, and thus play a role in cell migration, morphologic development, differentiation, and metastasis. This protein functions as a receptor for the basement membrane protein laminin-1. It is mainly expressed in skeletal and cardiac muscles and may be involved in differentiation and migration processes during myogenesis. Defects in this gene are associated with congenital myopathy. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1muscle filament sliding (GO:0030049)7.84224406
2actin-myosin filament sliding (GO:0033275)7.84224406
3plasma membrane repair (GO:0001778)6.92219857
4actin-mediated cell contraction (GO:0070252)6.57549276
5sarcomere organization (GO:0045214)5.94104782
6skeletal muscle contraction (GO:0003009)5.84169663
7negative regulation of potassium ion transmembrane transporter activity (GO:1901017)5.71305430
8sarcoplasmic reticulum calcium ion transport (GO:0070296)5.55126023
9regulation of skeletal muscle contraction (GO:0014819)5.31628135
10skeletal muscle fiber development (GO:0048741)5.22225358
11actin filament-based movement (GO:0030048)5.17563680
12negative regulation of potassium ion transmembrane transport (GO:1901380)4.94846030
13myoblast fusion (GO:0007520)4.90259597
14cardiac myofibril assembly (GO:0055003)4.80312084
15positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)4.68458915
16musculoskeletal movement (GO:0050881)4.63040079
17multicellular organismal movement (GO:0050879)4.63040079
18myofibril assembly (GO:0030239)4.56650595
19syncytium formation by plasma membrane fusion (GO:0000768)4.51539871
20NADH metabolic process (GO:0006734)4.47384027
21positive regulation of myotube differentiation (GO:0010831)4.46072950
22striated muscle contraction (GO:0006941)4.40529378
23myotube cell development (GO:0014904)4.36256339
24syncytium formation (GO:0006949)4.28101944
25regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)4.28024672
26regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO4.21261413
27muscle cell fate commitment (GO:0042693)4.18383999
28regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)4.17001568
29triglyceride catabolic process (GO:0019433)4.16627296
30actomyosin structure organization (GO:0031032)4.15795915
31muscle contraction (GO:0006936)4.06973016
32cardiac muscle contraction (GO:0060048)3.98537068
33cellular response to epinephrine stimulus (GO:0071872)3.96162020
34muscle fiber development (GO:0048747)3.88038389
35regulation of cell communication by electrical coupling (GO:0010649)3.87774128
36acylglycerol catabolic process (GO:0046464)3.77747787
37neutral lipid catabolic process (GO:0046461)3.77747787
38cardiac muscle cell development (GO:0055013)3.74364697
39regulation of striated muscle contraction (GO:0006942)3.73733955
40response to stimulus involved in regulation of muscle adaptation (GO:0014874)3.72945187
41regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.68735053
42muscle system process (GO:0003012)3.67895631
43carnitine shuttle (GO:0006853)3.63035851
44regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.59288011
45striated muscle cell development (GO:0055002)3.54143644
46cardiac cell development (GO:0055006)3.52871595
47striated muscle hypertrophy (GO:0014897)3.52173701
48fatty acid homeostasis (GO:0055089)3.51988027
49response to epinephrine (GO:0071871)3.51904256
50muscle cell cellular homeostasis (GO:0046716)3.51062637
51regulation of the force of heart contraction (GO:0002026)3.48986725
52response to inactivity (GO:0014854)3.47204815
53tricarboxylic acid cycle (GO:0006099)3.46114811
54regulation of skeletal muscle cell differentiation (GO:2001014)3.41491137
55regulation of relaxation of muscle (GO:1901077)3.39820401
56fatty acid transmembrane transport (GO:1902001)3.38940146
57striated muscle atrophy (GO:0014891)3.38374807
58negative regulation of cell size (GO:0045792)3.36509375
59regulation of membrane repolarization (GO:0060306)3.33516444
60response to muscle activity (GO:0014850)3.30721240
61regulation of actin filament-based movement (GO:1903115)3.28122303
62positive regulation of skeletal muscle tissue development (GO:0048643)3.24629766
63regulation of sequestering of triglyceride (GO:0010889)3.23375280
64regulation of p38MAPK cascade (GO:1900744)3.20758995
65epithelial cell-cell adhesion (GO:0090136)3.18137794
66muscle hypertrophy (GO:0014896)3.15109172
67muscle cell development (GO:0055001)3.13613555
68cell communication involved in cardiac conduction (GO:0086065)3.12513133
69ventricular cardiac muscle tissue morphogenesis (GO:0055010)3.11892224
70positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)3.11205851
71negative regulation of protein localization to cell surface (GO:2000009)3.10096179
72ventricular cardiac muscle cell action potential (GO:0086005)3.09010264
73regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)3.07564382
74heart process (GO:0003015)3.03808056
75heart contraction (GO:0060047)3.03808056
76regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.02590109
77detection of calcium ion (GO:0005513)3.01735378
78positive regulation of fatty acid beta-oxidation (GO:0032000)2.99396326
79* muscle organ development (GO:0007517)2.99290163
80positive regulation of calcium ion transmembrane transporter activity (GO:1901021)2.98339237
81regulation of fatty acid oxidation (GO:0046320)2.98148101
82adult heart development (GO:0007512)2.97858874
83bundle of His cell to Purkinje myocyte communication (GO:0086069)2.96597125
84neuromuscular junction development (GO:0007528)2.95743029
85vascular endothelial growth factor signaling pathway (GO:0038084)2.93855531
86membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.93782830
87cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.93091013
88* muscle structure development (GO:0061061)2.91785559
89cardiac muscle adaptation (GO:0014887)2.89651932
90cardiac muscle hypertrophy in response to stress (GO:0014898)2.89651932
91muscle hypertrophy in response to stress (GO:0003299)2.89651932
92protein localization to endosome (GO:0036010)2.88274985
93creatine metabolic process (GO:0006600)2.87562110
94activation of protein kinase A activity (GO:0034199)2.87102835
95regulation of tight junction assembly (GO:2000810)2.86918991
96regulation of syncytium formation by plasma membrane fusion (GO:0060142)2.86100846
97cellular response to monoamine stimulus (GO:0071868)2.85897937
98cellular response to catecholamine stimulus (GO:0071870)2.85897937
99retina vasculature morphogenesis in camera-type eye (GO:0061299)2.85541254
100heart trabecula formation (GO:0060347)2.84703466
101lipid particle organization (GO:0034389)2.84198800
102cell-substrate junction assembly (GO:0007044)2.83135665
103cGMP-mediated signaling (GO:0019934)2.83043659
104regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)2.82652996
105cell communication by electrical coupling (GO:0010644)2.81770335
106cell migration involved in heart development (GO:0060973)2.81539669
107positive regulation of glycogen biosynthetic process (GO:0045725)2.80904980
108positive regulation of fatty acid oxidation (GO:0046321)2.78891050
109cytoskeletal anchoring at plasma membrane (GO:0007016)2.78612847
110muscle tissue morphogenesis (GO:0060415)2.77645242
111regulation of cardiac muscle cell contraction (GO:0086004)2.76803216
112striated muscle adaptation (GO:0014888)2.76192413
113cardiac muscle tissue morphogenesis (GO:0055008)2.75505639
114muscle atrophy (GO:0014889)2.74946323
115carnitine transmembrane transport (GO:1902603)2.74617194
116glycerolipid catabolic process (GO:0046503)2.74453217
117basement membrane organization (GO:0071711)2.74407065
118skeletal muscle adaptation (GO:0043501)2.71296572
119positive regulation of myoblast differentiation (GO:0045663)2.70719071
120regulation of calcium ion transmembrane transport (GO:1903169)2.70442588
121regulation of calcium ion transmembrane transporter activity (GO:1901019)2.70442588
122negative regulation of potassium ion transport (GO:0043267)2.69379479
123myelination in peripheral nervous system (GO:0022011)2.67843219
124peripheral nervous system axon ensheathment (GO:0032292)2.67843219
125* skeletal muscle tissue development (GO:0007519)2.65656868
126cardiac muscle hypertrophy (GO:0003300)2.65229119
127regulation of fatty acid beta-oxidation (GO:0031998)2.65153813
128regulation of muscle contraction (GO:0006937)2.64889751
129low-density lipoprotein particle clearance (GO:0034383)2.64755349
130focal adhesion assembly (GO:0048041)2.63856483
131cell-substrate adherens junction assembly (GO:0007045)2.63856483
1322-oxoglutarate metabolic process (GO:0006103)2.63762040
133protein heterotrimerization (GO:0070208)2.60729495
134regulation of sarcomere organization (GO:0060297)2.60377704
135regulation of muscle system process (GO:0090257)2.57573839
136adherens junction assembly (GO:0034333)2.56429738
137response to monoamine (GO:0071867)2.56097781

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.98005397
2RARG_19884340_ChIP-ChIP_MEFs_Mouse3.63720201
3TRIM28_21343339_ChIP-Seq_HEK293_Human3.08335371
4CLOCK_20551151_ChIP-Seq_293T_Human3.01307029
5TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.86147905
6THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.50464048
7EP300_21415370_ChIP-Seq_HL-1_Mouse2.46587129
8ESR1_20079471_ChIP-ChIP_T-47D_Human2.45679124
9TBX20_22328084_ChIP-Seq_HEART_Mouse2.33520251
10TBX20_22080862_ChIP-Seq_HEART_Mouse2.33520251
11ESR2_21235772_ChIP-Seq_MCF-7_Human2.29515087
12TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.25502662
13TP63_17297297_ChIP-ChIP_HaCaT_Human2.20988023
14ZNF263_19887448_ChIP-Seq_K562_Human2.08311136
15RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.05524246
16NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.93991245
17ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.87306702
18EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.83596322
19ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.81885486
20EZH2_22144423_ChIP-Seq_EOC_Human1.81714707
21TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.79557058
22KDM2B_26808549_Chip-Seq_SUP-B15_Human1.71593511
23NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.70512467
24ERG_21242973_ChIP-ChIP_JURKAT_Human1.69889735
25WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.67472113
26ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.66661823
27ESR1_21235772_ChIP-Seq_MCF-7_Human1.64020271
28NFIB_24661679_ChIP-Seq_LUNG_Mouse1.61678049
29SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.61090609
30ZFP281_18757296_ChIP-ChIP_E14_Mouse1.60911646
31LXR_22292898_ChIP-Seq_THP-1_Human1.57908620
32ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.57503126
33CJUN_26792858_Chip-Seq_BT549_Human1.53820132
34EED_16625203_ChIP-ChIP_MESCs_Mouse1.53096784
35ELK3_25401928_ChIP-Seq_HUVEC_Human1.52508541
36PPAR_26484153_Chip-Seq_NCI-H1993_Human1.50789845
37EZH2_27304074_Chip-Seq_ESCs_Mouse1.49674697
38CDX2_19796622_ChIP-Seq_MESCs_Mouse1.46304563
39KDM2B_26808549_Chip-Seq_K562_Human1.46155356
40RNF2_27304074_Chip-Seq_ESCs_Mouse1.44214076
41* SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.44018420
42P300_27058665_Chip-Seq_ZR-75-30cells_Human1.41758259
43LXR_22158963_ChIP-Seq_LIVER_Mouse1.40939088
44MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.39405743
45JARID2_20075857_ChIP-Seq_MESCs_Mouse1.39152621
46* PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.37738943
47EZH2_18974828_ChIP-Seq_MESCs_Mouse1.37272970
48RNF2_18974828_ChIP-Seq_MESCs_Mouse1.37272970
49RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.37082347
50* PPARA_22158963_ChIP-Seq_LIVER_Mouse1.36978027
51KDM2B_26808549_Chip-Seq_DND41_Human1.35009512
52RXR_22158963_ChIP-Seq_LIVER_Mouse1.34652558
53UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.31313581
54RACK7_27058665_Chip-Seq_MCF-7_Human1.31035819
55GATA2_21666600_ChIP-Seq_HMVEC_Human1.30808128
56ATF3_27146783_Chip-Seq_COLON_Human1.29146233
57PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.28191855
58DROSHA_22980978_ChIP-Seq_HELA_Human1.25724527
59MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.24997359
60* MTF2_20144788_ChIP-Seq_MESCs_Mouse1.24807476
61SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.23120229
62KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.22569927
63EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.21023297
64NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.16628516
65* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.15952687
66HIF1A_21447827_ChIP-Seq_MCF-7_Human1.15903919
67SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.15789990
68* SUZ12_27294783_Chip-Seq_ESCs_Mouse1.14588545
69* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.14547689
70CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.14403204
71* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.14094226
72RUNX1_27514584_Chip-Seq_MCF-7_Human1.12462302
73ISL1_27105846_Chip-Seq_CPCs_Mouse1.12174830
74WT1_19549856_ChIP-ChIP_CCG9911_Human1.11105130
75CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.09844114
76* ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.09749926
77OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.09329066
78* SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.09015979
79TP53_16413492_ChIP-PET_HCT116_Human1.08084301
80JARID2_20064375_ChIP-Seq_MESCs_Mouse1.08080686
81* EZH2_27294783_Chip-Seq_ESCs_Mouse1.07503444
82NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.07389138
83* SMC1_22415368_ChIP-Seq_MEFs_Mouse1.06495759
84ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.05158393
85SOX9_24532713_ChIP-Seq_HFSC_Mouse1.04101429
86RING1B_27294783_Chip-Seq_ESCs_Mouse1.03591674
87CTCF_27219007_Chip-Seq_Bcells_Human1.03031758
88PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.02803685
89NRF2_20460467_ChIP-Seq_MEFs_Mouse1.01808080
90NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.01808080
91CTNNB1_20460455_ChIP-Seq_HCT116_Human1.01796371
92RAD21_21589869_ChIP-Seq_MESCs_Mouse1.01723109
93TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.01087871
94STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.00885547
95TET1_21490601_ChIP-Seq_MESCs_Mouse1.00853783
96TP53_20018659_ChIP-ChIP_R1E_Mouse1.00551923
97KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.00413310
98TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.00033952
99FOXO3_23340844_ChIP-Seq_DLD1_Human1.00018216
100WT1_25993318_ChIP-Seq_PODOCYTE_Human0.99795538
101SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.99262747
102NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.98872759
103SMC3_22415368_ChIP-Seq_MEFs_Mouse0.98762172
104TP53_22127205_ChIP-Seq_IMR90_Human0.98096542
105PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.97692009
106KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.96806560
107DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.96486338
108GATA1_19941826_ChIP-Seq_K562_Human0.94491795
109GATA4_21415370_ChIP-Seq_HL-1_Mouse0.94449664
110RARB_27405468_Chip-Seq_BRAIN_Mouse0.94116861
111SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.93575963
112SA1_22415368_ChIP-Seq_MEFs_Mouse0.93115250
113* SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.92355144
114ZFP281_27345836_Chip-Seq_ESCs_Mouse0.91742659
115CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.91462058
116* SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.91234537
117TP53_23651856_ChIP-Seq_MEFs_Mouse0.90954916
118SMC4_20622854_ChIP-Seq_HELA_Human0.89175623
119TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.88595882
120TP63_22573176_ChIP-Seq_HFKS_Human0.88055171
121AHR_22903824_ChIP-Seq_MCF-7_Human0.87814133
122KDM2B_26808549_Chip-Seq_JURKAT_Human0.87477607
123JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.87284768
124FOXA2_19822575_ChIP-Seq_HepG2_Human0.87058427
125ZNF217_24962896_ChIP-Seq_MCF-7_Human0.87006934
126PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.86966842
127DNAJC2_21179169_ChIP-ChIP_NT2_Human0.86000952
128FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.85939390

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002837_dystrophic_cardiac_calcinosis5.53300989
2* MP0000751_myopathy4.79929226
3* MP0000749_muscle_degeneration4.37210355
4MP0000750_abnormal_muscle_regeneration4.04956742
5MP0004084_abnormal_cardiac_muscle3.72394497
6MP0004145_abnormal_muscle_electrophysio3.44206475
7* MP0004087_abnormal_muscle_fiber3.30023318
8MP0000747_muscle_weakness3.17033455
9MP0004215_abnormal_myocardial_fiber3.07559296
10MP0008438_abnormal_cutaneous_collagen3.03175395
11* MP0002106_abnormal_muscle_physiology3.00676372
12MP0004036_abnormal_muscle_relaxation2.90757612
13MP0003646_muscle_fatigue2.83349761
14* MP0000759_abnormal_skeletal_muscle2.74851744
15MP0005330_cardiomyopathy2.71793640
16MP0000733_abnormal_muscle_development2.68364280
17* MP0005369_muscle_phenotype2.53715463
18MP0005670_abnormal_white_adipose2.46029897
19MP0004130_abnormal_muscle_cell2.45411154
20* MP0002269_muscular_atrophy2.38993949
21MP0005620_abnormal_muscle_contractility2.27865064
22MP0002972_abnormal_cardiac_muscle2.08901282
23MP0004233_abnormal_muscle_weight2.08163789
24MP0005666_abnormal_adipose_tissue2.01803174
25MP0003279_aneurysm2.00720177
26MP0003705_abnormal_hypodermis_morpholog1.99211866
27MP0010630_abnormal_cardiac_muscle1.88261609
28MP0002108_abnormal_muscle_morphology1.85439535
29MP0005275_abnormal_skin_tensile1.79187857
30MP0006138_congestive_heart_failure1.78170818
31MP0003950_abnormal_plasma_membrane1.76201583
32MP0005623_abnormal_meninges_morphology1.75808200
33MP0004185_abnormal_adipocyte_glucose1.75375253
34MP0008775_abnormal_heart_ventricle1.72570674
35MP0004272_abnormal_basement_membrane1.68900895
36MP0002971_abnormal_brown_adipose1.62680862
37MP0001544_abnormal_cardiovascular_syste1.62189920
38MP0005385_cardiovascular_system_phenoty1.62189920
39MP0005375_adipose_tissue_phenotype1.60163231
40MP0004270_analgesia1.60128413
41MP0003137_abnormal_impulse_conducting1.60017365
42MP0003566_abnormal_cell_adhesion1.51372149
43MP0003828_pulmonary_edema1.47276041
44MP0004484_altered_response_of1.46521912
45MP0000013_abnormal_adipose_tissue1.37872892
46MP0004858_abnormal_nervous_system1.24451892
47MP0001661_extended_life_span1.22319514
48MP0000003_abnormal_adipose_tissue1.22140313
49MP0003091_abnormal_cell_migration1.20455575
50MP0004510_myositis1.20092068
51MP0005503_abnormal_tendon_morphology1.17999190
52MP0001299_abnormal_eye_distance/1.17464619
53MP0002234_abnormal_pharynx_morphology1.17036811
54MP0004085_abnormal_heartbeat1.13221696
55MP0002332_abnormal_exercise_endurance1.08294108
56MP0009780_abnormal_chondrocyte_physiolo1.04704048
57MP0005165_increased_susceptibility_to0.92993557
58MP0003045_fibrosis0.88734946
59MP0005535_abnormal_body_temperature0.88067627
60MP0001958_emphysema0.83808266
61* MP0000767_abnormal_smooth_muscle0.83802631
62MP0010030_abnormal_orbit_morphology0.83680351
63MP0003690_abnormal_glial_cell0.81890566
64MP0001542_abnormal_bone_strength0.81586029
65MP0009115_abnormal_fat_cell0.81173287
66MP0002877_abnormal_melanocyte_morpholog0.81093352
67MP0002249_abnormal_larynx_morphology0.78173875
68MP0003221_abnormal_cardiomyocyte_apopto0.77022014
69MP0000266_abnormal_heart_morphology0.75585965
70MP0009384_cardiac_valve_regurgitation0.72328801
71* MP0002128_abnormal_blood_circulation0.71996086
72MP0003011_delayed_dark_adaptation0.71677509
73MP0010368_abnormal_lymphatic_system0.71009397
74MP0002909_abnormal_adrenal_gland0.70137661
75MP0005167_abnormal_blood-brain_barrier0.67376170
76MP0008961_abnormal_basal_metabolism0.67280077
77MP0005451_abnormal_body_composition0.66224791
78MP0005334_abnormal_fat_pad0.65975973
79MP0000343_altered_response_to0.63090096
80MP0006036_abnormal_mitochondrial_physio0.62457361
81MP0002896_abnormal_bone_mineralization0.62057420
82MP0003879_abnormal_hair_cell0.60506143
83MP0002060_abnormal_skin_morphology0.59476315
84MP0005448_abnormal_energy_balance0.59003455
85MP0002127_abnormal_cardiovascular_syste0.58904605
86MP0005023_abnormal_wound_healing0.57776988
87MP0005266_abnormal_metabolism0.56954681
88MP0000762_abnormal_tongue_morphology0.54955277
89MP0002970_abnormal_white_adipose0.53262233
90MP0005388_respiratory_system_phenotype0.52692009
91MP0002133_abnormal_respiratory_system0.52692009
92MP0003959_abnormal_lean_body0.52543320
93MP0003948_abnormal_gas_homeostasis0.52038045
94MP0004859_abnormal_synaptic_plasticity0.51745480
95MP0005508_abnormal_skeleton_morphology0.51462221
96MP0000249_abnormal_blood_vessel0.50277294
97MP0009840_abnormal_foam_cell0.49930755
98MP0003868_abnormal_feces_composition0.49601252
99MP0002168_other_aberrant_phenotype0.48545651
100MP0010329_abnormal_lipoprotein_level0.47105465
101MP0002118_abnormal_lipid_homeostasis0.46436400
102* MP0001614_abnormal_blood_vessel0.46151470
103MP0001879_abnormal_lymphatic_vessel0.44889555
104MP0003329_amyloid_beta_deposits0.44833968
105MP0002734_abnormal_mechanical_nocicepti0.43695130
106MP0005452_abnormal_adipose_tissue0.43444066
107MP0002925_abnormal_cardiovascular_devel0.42881847
108MP0000230_abnormal_systemic_arterial0.42122384
109MP0003567_abnormal_fetal_cardiomyocyte0.41627834
110MP0002078_abnormal_glucose_homeostasis0.41205542
111MP0005595_abnormal_vascular_smooth0.40033864
112MP0003300_gastrointestinal_ulcer0.39449239
113MP0003283_abnormal_digestive_organ0.34402943
114MP0001784_abnormal_fluid_regulation0.33277689
115MP0002295_abnormal_pulmonary_circulatio0.32705535
116MP0009250_abnormal_appendicular_skeleto0.32376075

Predicted human phenotypes

RankGene SetZ-score
1Fetal akinesia sequence (HP:0001989)7.21299104
2Popliteal pterygium (HP:0009756)7.15243364
3Aplasia of the musculature (HP:0100854)6.41263848
4Amniotic constriction ring (HP:0009775)6.18922490
5Abnormality of placental membranes (HP:0011409)6.18922490
6Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)6.04222261
7Type 1 muscle fiber predominance (HP:0003803)6.00320615
8Muscle fiber inclusion bodies (HP:0100299)5.64972255
9Nemaline bodies (HP:0003798)5.59456750
10Malignant hyperthermia (HP:0002047)5.03176766
11Akinesia (HP:0002304)4.96815250
12Fatigable weakness (HP:0003473)4.47184088
13Abnormality of the neuromuscular junction (HP:0003398)4.47184088
14Type 2 muscle fiber atrophy (HP:0003554)4.45883870
15Muscle fiber splitting (HP:0003555)4.29519930
16Increased connective tissue (HP:0009025)4.18867691
17Weak cry (HP:0001612)4.11715097
18Abnormality of the calf musculature (HP:0001430)4.08421427
19Hyporeflexia of lower limbs (HP:0002600)4.08278159
20Muscle fiber atrophy (HP:0100295)4.02803375
21Thin ribs (HP:0000883)4.02748205
22Difficulty climbing stairs (HP:0003551)4.02101629
23Difficulty running (HP:0009046)4.00765113
24Gowers sign (HP:0003391)4.00083367
25Distal arthrogryposis (HP:0005684)3.96053152
26Round ear (HP:0100830)3.91217682
27EMG: myopathic abnormalities (HP:0003458)3.87954519
28Hypoplastic heart (HP:0001961)3.82934293
29Pterygium (HP:0001059)3.80698458
30Asymmetric septal hypertrophy (HP:0001670)3.73203716
31Aplasia/Hypoplasia involving the musculature (HP:0001460)3.68072727
32Mildly elevated creatine phosphokinase (HP:0008180)3.67677648
33Calf muscle hypertrophy (HP:0008981)3.65936739
34Bulbar palsy (HP:0001283)3.61643563
35Myopathic facies (HP:0002058)3.59186153
36Sudden death (HP:0001699)3.45299495
37Exercise-induced myalgia (HP:0003738)3.38451705
38Ulnar deviation of the wrist (HP:0003049)3.37545397
39Muscle hypertrophy of the lower extremities (HP:0008968)3.30752824
40Abnormality of the left ventricular outflow tract (HP:0011103)3.29542086
41Right ventricular cardiomyopathy (HP:0011663)3.28745828
42Easy fatigability (HP:0003388)3.26937020
43Cystic hygroma (HP:0000476)3.11841817
44Generalized muscle weakness (HP:0003324)3.08982851
45* Abnormality of skeletal muscle fiber size (HP:0012084)2.99841962
46Distal lower limb amyotrophy (HP:0008944)2.95188053
47Exercise-induced muscle cramps (HP:0003710)2.93541209
48Scapular winging (HP:0003691)2.92327541
49Spinal rigidity (HP:0003306)2.91330609
50Heart block (HP:0012722)2.90359858
51Calcaneovalgus deformity (HP:0001848)2.89954085
52Centrally nucleated skeletal muscle fibers (HP:0003687)2.83560202
53Neck muscle weakness (HP:0000467)2.79159254
54Rhabdomyolysis (HP:0003201)2.76686625
55Long clavicles (HP:0000890)2.74971047
56Limb-girdle muscle atrophy (HP:0003797)2.74807035
57Slender build (HP:0001533)2.72628710
58Neonatal respiratory distress (HP:0002643)2.71011186
59Deformed tarsal bones (HP:0008119)2.69259062
60Oligomenorrhea (HP:0000876)2.65861037
61Ventricular tachycardia (HP:0004756)2.64677932
62Aortic aneurysm (HP:0004942)2.63298066
63Myotonia (HP:0002486)2.60711888
64Hip contracture (HP:0003273)2.55205471
65Rimmed vacuoles (HP:0003805)2.53630539
66Abnormalities of placenta or umbilical cord (HP:0001194)2.50161347
67Absent phalangeal crease (HP:0006109)2.50000451
68Myoglobinuria (HP:0002913)2.48553959
69Lipoatrophy (HP:0100578)2.47803413
70Diminished movement (HP:0002374)2.45201237
71Ventricular arrhythmia (HP:0004308)2.43655617
72Abnormality of the foot musculature (HP:0001436)2.42523876
73Facial diplegia (HP:0001349)2.40220982
74* Increased variability in muscle fiber diameter (HP:0003557)2.39778104
75Syncope (HP:0001279)2.39190813
76Muscle stiffness (HP:0003552)2.38615154
77Respiratory insufficiency due to muscle weakness (HP:0002747)2.35843838
78Foot dorsiflexor weakness (HP:0009027)2.35297580
79Lower limb amyotrophy (HP:0007210)2.32831270
80Atrial fibrillation (HP:0005110)2.32806970
81Frequent falls (HP:0002359)2.30001664
82Premature rupture of membranes (HP:0001788)2.22753813
83Areflexia of lower limbs (HP:0002522)2.19704814
84Primary atrial arrhythmia (HP:0001692)2.16242595
85EMG: neuropathic changes (HP:0003445)2.15566271
86Distal lower limb muscle weakness (HP:0009053)2.12930646
87Prolonged QT interval (HP:0001657)2.12526374
88Shallow orbits (HP:0000586)2.08737172
89Dilated cardiomyopathy (HP:0001644)2.07795820
90Supraventricular arrhythmia (HP:0005115)2.05137791
91Abnormal finger flexion creases (HP:0006143)2.04741008
92Supraventricular tachycardia (HP:0004755)2.04600202
93Protrusio acetabuli (HP:0003179)2.03340873
94Generalized amyotrophy (HP:0003700)2.02525984
95Ankle contracture (HP:0006466)1.97998365
96Testicular atrophy (HP:0000029)1.97863676
97Aortic dissection (HP:0002647)1.96579454
98Symphalangism affecting the phalanges of the hand (HP:0009773)1.95079946
99Abnormality of the calcaneus (HP:0008364)1.92395230
100Broad metatarsal (HP:0001783)1.90076407
101Limited hip movement (HP:0008800)1.89590193
102Arthrogryposis multiplex congenita (HP:0002804)1.87708283
103Abnormal atrioventricular conduction (HP:0005150)1.86257571
104Atrioventricular block (HP:0001678)1.85626129
105Back pain (HP:0003418)1.83985369
106Bundle branch block (HP:0011710)1.83117950
107Distal upper limb amyotrophy (HP:0007149)1.82476446
108Upper limb amyotrophy (HP:0009129)1.82476446
109Acanthosis nigricans (HP:0000956)1.80662565
110Hypoplastic nipples (HP:0002557)1.80505113
111Abnormality of the shoulder girdle musculature (HP:0001435)1.80036306
112Waddling gait (HP:0002515)1.79598993
113Fused cervical vertebrae (HP:0002949)1.77674064
114Exostoses (HP:0100777)1.77124767
115Webbed neck (HP:0000465)1.76912243
116Cerebral aneurysm (HP:0004944)1.75376458
117Muscular dystrophy (HP:0003560)1.74605248
118Mask-like facies (HP:0000298)1.74571358
119Limb-girdle muscle weakness (HP:0003325)1.74343489
120Subaortic stenosis (HP:0001682)1.74153016

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TRIB35.22320233
2TTN4.76532327
3MUSK4.24770233
4PIK3CG3.47827566
5OBSCN2.73926993
6MOS2.69679575
7PKN22.65548133
8PHKG12.37376521
9PHKG22.37376521
10LMTK22.34558210
11MAPKAPK32.09029969
12DMPK2.02382866
13RIPK11.98972373
14MYLK1.92775943
15PDK31.91573435
16PDK41.91573435
17SIK11.89902479
18PDGFRA1.89200245
19MARK11.75310597
20ILK1.62573407
21EPHB11.59453975
22EEF2K1.47988096
23FGFR41.42635097
24MAP3K61.31043215
25CAMK11.30822618
26ROCK21.27552715
27ROCK11.26827308
28ERN11.26116418
29TESK11.24851610
30DDR21.21724177
31PIK3CA1.19636061
32TRPM71.16399059
33CAMK1D1.14722475
34MAP2K11.13971571
35MAP3K101.11226385
36FER1.08926526
37BCKDK1.07848107
38PDK21.07687228
39MAPK41.02857985
40MAPK121.01291140
41NEK10.99760824
42ICK0.99555945
43PAK30.98285582
44PIM20.97805261
45LATS20.93080151
46MAPK70.93021481
47PTK60.92984142
48MARK20.87703655
49EPHA30.86480484
50PAK60.86371133
51PAK40.85064073
52LRRK20.84888360
53PRKD10.82731594
54CAMK1G0.82421541
55MAP3K70.82141675
56TYRO30.82062526
57MTOR0.80514075
58RET0.77163877
59PINK10.74539525
60PTK2B0.73504420
61BMX0.73367640
62PTK20.71475547
63LATS10.69841770
64MAP2K30.69761058
65EPHB20.66799596
66PAK20.66019778
67RPS6KA20.65512346
68CDC42BPA0.65082469
69CAMK2B0.63903341
70PRKAA20.63547036
71CDK60.62877718
72PRPF4B0.62245440
73CAMK2D0.62071831
74DAPK30.61891041
75PKN10.61078335
76PDGFRB0.60547051
77TIE10.59474183
78LIMK10.57841323
79CDK140.57774016
80ARAF0.57442610
81MAP3K130.56992645
82PRKAA10.56017873
83CDK150.55859427
84FGFR30.53722957
85NTRK10.53405379
86AKT20.53241120
87NTRK20.52951703
88MAP3K50.51986545
89DYRK1B0.51701527
90NTRK30.51690575
91STK240.50550459
92CDK180.50547862
93PDPK10.49211071
94PRKD20.49063107
95RPS6KL10.48930690
96RPS6KC10.48930690
97TGFBR20.48656506
98CDK11A0.47088925
99FGFR10.46443378
100CAMK40.44707919
101PRKD30.44394097
102CAMK2G0.42482767
103PRKG20.42349261
104PRKCH0.41254718
105PRKACB0.40284356
106RPS6KA30.40270721
107MAPK100.40210755
108CAMKK10.38992018
109SGK30.38517430
110JAK10.37793545
111PRKG10.37633071
112KSR20.37000767
113NEK90.36391644
114CAMK2A0.35548475
115CAMKK20.35246290
116GSK3A0.34895612
117RPS6KA60.34507314
118PRKACA0.33055787
119CDK50.32159018
120UHMK10.31856293
121MAP2K40.31316876
122STK38L0.30869814
123ABL20.29962625
124MET0.29230550
125MAPK110.28624781
126PRKACG0.25904117
127PRKCE0.25678859
128SRC0.24722195

Predicted pathways (KEGG)

RankGene SetZ-score
1* Dilated cardiomyopathy_Homo sapiens_hsa054143.81865359
2Citrate cycle (TCA cycle)_Homo sapiens_hsa000203.74363317
3* Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054103.71819430
4* Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054123.19480565
52-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.02397714
6Cardiac muscle contraction_Homo sapiens_hsa042602.68224595
7Propanoate metabolism_Homo sapiens_hsa006402.19237676
8Fatty acid degradation_Homo sapiens_hsa000712.17764255
9Fatty acid metabolism_Homo sapiens_hsa012121.93954616
10Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.89228593
11PPAR signaling pathway_Homo sapiens_hsa033201.80646526
12Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.78194717
13Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.75959814
14Viral myocarditis_Homo sapiens_hsa054161.70510918
15* Focal adhesion_Homo sapiens_hsa045101.69866359
16Fatty acid biosynthesis_Homo sapiens_hsa000611.65123505
17Carbon metabolism_Homo sapiens_hsa012001.59914737
18Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.58725476
19* ECM-receptor interaction_Homo sapiens_hsa045121.52561978
20Adipocytokine signaling pathway_Homo sapiens_hsa049201.47274233
21Insulin signaling pathway_Homo sapiens_hsa049101.25664992
22Proteoglycans in cancer_Homo sapiens_hsa052051.22849438
23Pyruvate metabolism_Homo sapiens_hsa006201.21973854
24Insulin resistance_Homo sapiens_hsa049311.17907410
25Oxytocin signaling pathway_Homo sapiens_hsa049211.17886583
26Arginine and proline metabolism_Homo sapiens_hsa003301.16417368
27AMPK signaling pathway_Homo sapiens_hsa041521.15936606
28Glucagon signaling pathway_Homo sapiens_hsa049221.12770123
29Tight junction_Homo sapiens_hsa045301.12331692
30Amoebiasis_Homo sapiens_hsa051461.11642290
31Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.05616630
32Adherens junction_Homo sapiens_hsa045201.02311534
33cGMP-PKG signaling pathway_Homo sapiens_hsa040221.00868860
34Circadian rhythm_Homo sapiens_hsa047101.00488381
35Nitrogen metabolism_Homo sapiens_hsa009101.00153163
36Central carbon metabolism in cancer_Homo sapiens_hsa052301.00103063
37Tyrosine metabolism_Homo sapiens_hsa003500.99305151
38Vascular smooth muscle contraction_Homo sapiens_hsa042700.94298537
39Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.92479380
40Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.91333040
41Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.90850874
42Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.90638999
43Histidine metabolism_Homo sapiens_hsa003400.89533363
44Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.86923429
45Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.86638944
46Starch and sucrose metabolism_Homo sapiens_hsa005000.84964422
47Arginine biosynthesis_Homo sapiens_hsa002200.84893373
48Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.82787890
49Dorso-ventral axis formation_Homo sapiens_hsa043200.81058803
50Biosynthesis of amino acids_Homo sapiens_hsa012300.80928310
51HIF-1 signaling pathway_Homo sapiens_hsa040660.78384956
52Calcium signaling pathway_Homo sapiens_hsa040200.77355751
53Renin secretion_Homo sapiens_hsa049240.77151298
54Longevity regulating pathway - mammal_Homo sapiens_hsa042110.74871892
55Melanogenesis_Homo sapiens_hsa049160.73992490
56Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.73070411
57Glycerolipid metabolism_Homo sapiens_hsa005610.73068526
58Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.72998326
59Leukocyte transendothelial migration_Homo sapiens_hsa046700.72746045
60Prion diseases_Homo sapiens_hsa050200.71796553
61* Regulation of actin cytoskeleton_Homo sapiens_hsa048100.68795005
62Gastric acid secretion_Homo sapiens_hsa049710.66131322
63Long-term potentiation_Homo sapiens_hsa047200.65102122
64Butanoate metabolism_Homo sapiens_hsa006500.65090850
65Platelet activation_Homo sapiens_hsa046110.62980210
66Bile secretion_Homo sapiens_hsa049760.62429872
67Gap junction_Homo sapiens_hsa045400.60422394
68Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.59729593
69Type II diabetes mellitus_Homo sapiens_hsa049300.59349134
70Pentose phosphate pathway_Homo sapiens_hsa000300.58975945
71Glioma_Homo sapiens_hsa052140.58582094
72Thyroid hormone signaling pathway_Homo sapiens_hsa049190.58262993
73AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.58152490
74Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.57163182
75Aldosterone synthesis and secretion_Homo sapiens_hsa049250.57154840
76Alzheimers disease_Homo sapiens_hsa050100.57147891
77VEGF signaling pathway_Homo sapiens_hsa043700.55876398
78Estrogen signaling pathway_Homo sapiens_hsa049150.55668132
79GnRH signaling pathway_Homo sapiens_hsa049120.55474132
80cAMP signaling pathway_Homo sapiens_hsa040240.55258795
81Protein digestion and absorption_Homo sapiens_hsa049740.53744556
82Sulfur relay system_Homo sapiens_hsa041220.52815166
83Circadian entrainment_Homo sapiens_hsa047130.52313984
84mTOR signaling pathway_Homo sapiens_hsa041500.51747116
85Chronic myeloid leukemia_Homo sapiens_hsa052200.50890314
86Lysine degradation_Homo sapiens_hsa003100.50655075
87Insulin secretion_Homo sapiens_hsa049110.50333807
88Salivary secretion_Homo sapiens_hsa049700.49642444
89Phenylalanine metabolism_Homo sapiens_hsa003600.49228252
90Melanoma_Homo sapiens_hsa052180.48241699
91Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.48077747
92MAPK signaling pathway_Homo sapiens_hsa040100.47725039
93beta-Alanine metabolism_Homo sapiens_hsa004100.47465716
94Parkinsons disease_Homo sapiens_hsa050120.47274647
95Tryptophan metabolism_Homo sapiens_hsa003800.45452291
96Phospholipase D signaling pathway_Homo sapiens_hsa040720.45353323
97Bladder cancer_Homo sapiens_hsa052190.44949782
98Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.44754515
99Basal cell carcinoma_Homo sapiens_hsa052170.44413411
100Glycerophospholipid metabolism_Homo sapiens_hsa005640.43212400
101Cocaine addiction_Homo sapiens_hsa050300.42664449
102Renal cell carcinoma_Homo sapiens_hsa052110.42556859
103Cholinergic synapse_Homo sapiens_hsa047250.42389510
104Ovarian steroidogenesis_Homo sapiens_hsa049130.41427972
105Amphetamine addiction_Homo sapiens_hsa050310.40897364
106Morphine addiction_Homo sapiens_hsa050320.40533131
107Small cell lung cancer_Homo sapiens_hsa052220.40485520
108Rap1 signaling pathway_Homo sapiens_hsa040150.38582411
109Pancreatic secretion_Homo sapiens_hsa049720.38345646
110Axon guidance_Homo sapiens_hsa043600.37835678
111GABAergic synapse_Homo sapiens_hsa047270.35419018
112* PI3K-Akt signaling pathway_Homo sapiens_hsa041510.35412220
113Notch signaling pathway_Homo sapiens_hsa043300.35086609
114Fat digestion and absorption_Homo sapiens_hsa049750.35077739
115Fatty acid elongation_Homo sapiens_hsa000620.35076648
116Thyroid hormone synthesis_Homo sapiens_hsa049180.34419197
117FoxO signaling pathway_Homo sapiens_hsa040680.33913792
118Hippo signaling pathway_Homo sapiens_hsa043900.33110144
119Toxoplasmosis_Homo sapiens_hsa051450.32884721
120Salmonella infection_Homo sapiens_hsa051320.32629402
121Neurotrophin signaling pathway_Homo sapiens_hsa047220.31723834
122Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.30445483
123Fructose and mannose metabolism_Homo sapiens_hsa000510.29524058

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