PERM1

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: No gene information available for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1sarcomere organization (GO:0045214)8.96731810
2cardiac myofibril assembly (GO:0055003)8.05117267
3negative regulation of potassium ion transmembrane transporter activity (GO:1901017)7.66000836
4myofibril assembly (GO:0030239)7.58694675
5actin-myosin filament sliding (GO:0033275)7.34906694
6muscle filament sliding (GO:0030049)7.34906694
7positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)7.05585513
8negative regulation of potassium ion transmembrane transport (GO:1901380)6.86353770
9regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)6.67410150
10tricarboxylic acid cycle (GO:0006099)6.66485623
11regulation of skeletal muscle contraction (GO:0014819)6.64974403
12plasma membrane repair (GO:0001778)6.63163435
13regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO6.51161625
14cardiac muscle contraction (GO:0060048)6.46530040
15regulation of relaxation of muscle (GO:1901077)6.24617769
16actin-mediated cell contraction (GO:0070252)6.06012193
17sarcoplasmic reticulum calcium ion transport (GO:0070296)6.01996010
18regulation of actin filament-based movement (GO:1903115)5.97441608
19cardiac muscle cell development (GO:0055013)5.92944683
20regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)5.85857173
21regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)5.72555124
22skeletal muscle fiber development (GO:0048741)5.60444160
23actomyosin structure organization (GO:0031032)5.59659413
24cardiac cell development (GO:0055006)5.58124106
25bundle of His cell to Purkinje myocyte communication (GO:0086069)5.55581692
26carnitine shuttle (GO:0006853)5.54267851
27ventricular cardiac muscle cell action potential (GO:0086005)5.49307645
28striated muscle contraction (GO:0006941)5.40767370
29regulation of cell communication by electrical coupling (GO:0010649)5.36312574
30regulation of acyl-CoA biosynthetic process (GO:0050812)5.32476332
31regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)5.29739615
32regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.28956475
33cardiac muscle tissue morphogenesis (GO:0055008)5.22030746
34cardiac muscle hypertrophy (GO:0003300)5.17777367
35adult heart development (GO:0007512)5.15856616
36regulation of sarcomere organization (GO:0060297)5.11122071
37myotube cell development (GO:0014904)5.05369091
38* response to muscle activity (GO:0014850)5.01243838
39glycogen catabolic process (GO:0005980)4.99190472
40striated muscle hypertrophy (GO:0014897)4.96066367
41ventricular cardiac muscle tissue morphogenesis (GO:0055010)4.94589311
42regulation of striated muscle contraction (GO:0006942)4.82668179
43regulation of coenzyme metabolic process (GO:0051196)4.82487344
44regulation of cofactor metabolic process (GO:0051193)4.82487344
45fatty acid transmembrane transport (GO:1902001)4.80893608
46heart trabecula formation (GO:0060347)4.75460130
47muscle tissue morphogenesis (GO:0060415)4.71550677
48glucan catabolic process (GO:0009251)4.68930716
49heart process (GO:0003015)4.67965750
50heart contraction (GO:0060047)4.67965750
51creatine metabolic process (GO:0006600)4.60088948
52muscle fiber development (GO:0048747)4.58604362
53actin filament-based movement (GO:0030048)4.55765436
54response to stimulus involved in regulation of muscle adaptation (GO:0014874)4.55130102
55regulation of membrane repolarization (GO:0060306)4.50551825
56glucan biosynthetic process (GO:0009250)4.49271619
57glycogen biosynthetic process (GO:0005978)4.49271619
58cell communication involved in cardiac conduction (GO:0086065)4.43693631
59muscle hypertrophy (GO:0014896)4.41049867
60cellular polysaccharide catabolic process (GO:0044247)4.39629038
61skeletal muscle contraction (GO:0003009)4.27967298
62skeletal muscle tissue development (GO:0007519)4.26910009
63regulation of the force of heart contraction (GO:0002026)4.23069035
64cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.18124016
65carnitine transmembrane transport (GO:1902603)4.17074300
66regulation of sequestering of triglyceride (GO:0010889)4.15509388
67mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.13926835
68NADH metabolic process (GO:0006734)4.13923760
69regulation of cardiac muscle cell contraction (GO:0086004)4.10728235
70mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.09921133
71positive regulation of calcium ion transmembrane transporter activity (GO:1901021)4.02946893
72muscle cell cellular homeostasis (GO:0046716)4.02864057
73respiratory electron transport chain (GO:0022904)3.96916726
742-oxoglutarate metabolic process (GO:0006103)3.96338503
75polysaccharide catabolic process (GO:0000272)3.95134234
76regulation of cardiac muscle contraction (GO:0055117)3.93227671
77regulation of sulfur metabolic process (GO:0042762)3.90690563
78cardiac muscle cell action potential involved in contraction (GO:0086002)3.88603912
79cardiac muscle cell action potential (GO:0086001)3.86107371
80electron transport chain (GO:0022900)3.84585865
81oxidative phosphorylation (GO:0006119)3.81222872
82amino-acid betaine transport (GO:0015838)3.79224637
83carnitine transport (GO:0015879)3.79224637
84ATP synthesis coupled proton transport (GO:0015986)3.78479432
85energy coupled proton transport, down electrochemical gradient (GO:0015985)3.78479432
86negative regulation of potassium ion transport (GO:0043267)3.76447292
87regulation of heart rate (GO:0002027)3.75688378
88skeletal muscle tissue regeneration (GO:0043403)3.75638308
89muscle contraction (GO:0006936)3.73325489
90cardiac muscle adaptation (GO:0014887)3.71562452
91cardiac muscle hypertrophy in response to stress (GO:0014898)3.71562452
92muscle hypertrophy in response to stress (GO:0003299)3.71562452
93skeletal muscle adaptation (GO:0043501)3.71234301
94relaxation of cardiac muscle (GO:0055119)3.70911244
95gluconeogenesis (GO:0006094)3.67130839
96glycogen metabolic process (GO:0005977)3.66862798
97striated muscle atrophy (GO:0014891)3.65298455
98regulation of ATPase activity (GO:0043462)3.64585343
99regulation of ATP catabolic process (GO:1903289)3.64585343
100muscle adaptation (GO:0043500)3.64114124
101negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.63464181
102negative regulation of calcium ion transmembrane transport (GO:1903170)3.63464181
103response to inactivity (GO:0014854)3.60814989
104cellular glucan metabolic process (GO:0006073)3.59486003
105glucan metabolic process (GO:0044042)3.59486003
106desmosome organization (GO:0002934)3.58856769
107negative regulation of protein localization to cell surface (GO:2000009)3.58130223
108positive regulation of myotube differentiation (GO:0010831)3.57716026
109positive regulation of cation channel activity (GO:2001259)3.56913642
110striated muscle cell development (GO:0055002)3.56824654
111cell communication by electrical coupling (GO:0010644)3.55513332
112fructose metabolic process (GO:0006000)3.54516011
113oxygen transport (GO:0015671)3.54394814
114striated muscle adaptation (GO:0014888)3.53539138
115muscle organ development (GO:0007517)3.53282776
116muscle structure development (GO:0061061)3.52978890
117regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.51697423
118regulation of calcium ion transmembrane transport (GO:1903169)3.51377087
119regulation of calcium ion transmembrane transporter activity (GO:1901019)3.51377087
120muscle system process (GO:0003012)3.49801042
121cardiac conduction (GO:0061337)3.49215999
122regulation of heart contraction (GO:0008016)3.48828433
123muscle cell fate commitment (GO:0042693)3.46260386
124fatty acid beta-oxidation (GO:0006635)3.39697609
125positive regulation of heart rate (GO:0010460)3.38169063
126negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.33990702
127regulation of muscle system process (GO:0090257)3.33962858
128regulation of muscle contraction (GO:0006937)3.33593931
129muscle cell development (GO:0055001)3.33497501
130regulation of heart rate by cardiac conduction (GO:0086091)3.33189129
131membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.31099294
132regulation of fatty acid oxidation (GO:0046320)3.31082922
133muscle organ morphogenesis (GO:0048644)3.29021621
134hexose biosynthetic process (GO:0019319)3.28362365
135regulation of myoblast differentiation (GO:0045661)3.28169281
136oxaloacetate metabolic process (GO:0006107)3.26800523
137muscle atrophy (GO:0014889)3.25688341

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1PPARG_19300518_ChIP-PET_3T3-L1_Mouse6.70699909
2EP300_21415370_ChIP-Seq_HL-1_Mouse4.38234396
3ESRRB_18555785_ChIP-Seq_MESCs_Mouse4.09024993
4TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.99440447
5TBX20_22080862_ChIP-Seq_HEART_Mouse3.97490985
6TBX20_22328084_ChIP-Seq_HEART_Mouse3.97490985
7TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.61313467
8ZNF263_19887448_ChIP-Seq_K562_Human3.18729109
9RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.12147612
10ESR1_20079471_ChIP-ChIP_T-47D_Human3.04299212
11MEF2A_21415370_ChIP-Seq_HL-1_Mouse2.75898462
12RARG_19884340_ChIP-ChIP_MEFs_Mouse2.72278324
13CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.62666308
14BP1_19119308_ChIP-ChIP_Hs578T_Human2.45066942
15THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.14134642
16GATA4_21415370_ChIP-Seq_HL-1_Mouse2.10503862
17EZH2_22144423_ChIP-Seq_EOC_Human2.03548509
18CDX2_19796622_ChIP-Seq_MESCs_Mouse2.01311340
19NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.83139075
20PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.82238231
21PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.75379544
22ESR2_21235772_ChIP-Seq_MCF-7_Human1.73412855
23EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.71714941
24ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.65828275
25NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.58618756
26TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.56617548
27ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.56038534
28NFIB_24661679_ChIP-Seq_LUNG_Mouse1.53883435
29CLOCK_20551151_ChIP-Seq_293T_Human1.52556862
30GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.42696576
31BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.36903559
32KDM2B_26808549_Chip-Seq_SUP-B15_Human1.35679394
33GATA1_22025678_ChIP-Seq_K562_Human1.33053861
34CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.30574303
35EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.29577642
36DROSHA_22980978_ChIP-Seq_HELA_Human1.28687608
37TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.26538162
38STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.25002631
39FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.24251213
40CTCF_27219007_Chip-Seq_Bcells_Human1.23539286
41GATA2_21666600_ChIP-Seq_HMVEC_Human1.22883039
42PPAR_26484153_Chip-Seq_NCI-H1993_Human1.22838696
43TP63_22573176_ChIP-Seq_HFKS_Human1.22253843
44SOX9_24532713_ChIP-Seq_HFSC_Mouse1.20564775
45NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.20376685
46PPARA_22158963_ChIP-Seq_LIVER_Mouse1.18005300
47TP63_17297297_ChIP-ChIP_HaCaT_Human1.14895587
48KDM2B_26808549_Chip-Seq_DND41_Human1.13176578
49EZH2_27294783_Chip-Seq_ESCs_Mouse1.09974424
50LXR_22158963_ChIP-Seq_LIVER_Mouse1.09750204
51TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.09570909
52RARB_27405468_Chip-Seq_BRAIN_Mouse1.09281891
53P63_26484246_Chip-Seq_KERATINOCYTES_Human1.08692419
54PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.08457341
55ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.06593543
56PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.05450083
57RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.05143066
58LXR_22292898_ChIP-Seq_THP-1_Human1.04967835
59RUNX1_27514584_Chip-Seq_MCF-7_Human1.04945736
60GATA1_19941826_ChIP-Seq_K562_Human1.02989794
61SA1_27219007_Chip-Seq_Bcells_Human1.02208153
62SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.01938012
63RACK7_27058665_Chip-Seq_MCF-7_Human1.01781814
64MYC_27129775_Chip-Seq_CORNEA_Mouse1.01318985
65TRIM28_21343339_ChIP-Seq_HEK293_Human1.00368578
66ATF3_27146783_Chip-Seq_COLON_Human0.98378539
67STAT6_20620947_ChIP-Seq_CD4_POS_T_Human0.98365263
68KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.97866828
69CTCF_27219007_Chip-Seq_ERYTHROID_Human0.97302349
70P68_20966046_ChIP-Seq_HELA_Human0.97164647
71SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.97008911
72ERG_21242973_ChIP-ChIP_JURKAT_Human0.95228694
73ESR1_21235772_ChIP-Seq_MCF-7_Human0.95169140
74BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.94977107
75TCF7_22412390_ChIP-Seq_EML_Mouse0.94845867
76NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.94296237
77CJUN_26792858_Chip-Seq_BT549_Human0.93788392
78OCT4_20526341_ChIP-Seq_ESCs_Human0.93030248
79SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.92740273
80ELK3_25401928_ChIP-Seq_HUVEC_Human0.92302704
81MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.91665230
82ZFP281_18757296_ChIP-ChIP_E14_Mouse0.91641459
83FOXH1_21741376_ChIP-Seq_ESCs_Human0.90884359
84GATA2_19941826_ChIP-Seq_K562_Human0.90799797
85CTNNB1_20460455_ChIP-Seq_HCT116_Human0.90129643
86LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.90026678
87SMC4_20622854_ChIP-Seq_HELA_Human0.88724615
88SPI1_20517297_ChIP-Seq_HL60_Human0.87368111
89NR3C1_23031785_ChIP-Seq_PC12_Mouse0.86761778
90SMAD3_21741376_ChIP-Seq_HESCs_Human0.86444074
91ISL1_27105846_Chip-Seq_CPCs_Mouse0.86214052
92AR_21572438_ChIP-Seq_LNCaP_Human0.86170256
93RAD21_21589869_ChIP-Seq_MESCs_Mouse0.85583255
94GATA1_19941827_ChIP-Seq_MEL_Mouse0.85457658
95STAT3_1855785_ChIP-Seq_MESCs_Mouse0.84083865
96FOXA2_19822575_ChIP-Seq_HepG2_Human0.84039994
97SMC3_22415368_ChIP-Seq_MEFs_Mouse0.83781986
98GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.83233589
99AUTS2_25519132_ChIP-Seq_293T-REX_Human0.83203403
100FOXO3_23340844_ChIP-Seq_DLD1_Human0.83015917
101GATA1_19941827_ChIP-Seq_MEL86_Mouse0.81813726
102SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.81227299
103TP53_23651856_ChIP-Seq_MEFs_Mouse0.80967602
104PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.80638918
105BCOR_27268052_Chip-Seq_Bcells_Human0.79961061
106EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.79830368
107MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.79666272
108UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.78888197
109GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.77858093
110RXR_22158963_ChIP-Seq_LIVER_Mouse0.77658851
111BCL6_27268052_Chip-Seq_Bcells_Human0.77564518
112SPI1_23127762_ChIP-Seq_K562_Human0.77261956
113STAT6_21828071_ChIP-Seq_BEAS2B_Human0.76973800
114BCAT_22108803_ChIP-Seq_LS180_Human0.76963307
115CTCF_21964334_ChIP-Seq_BJAB-B_Human0.76779226
116LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.76684107
117MTF2_20144788_ChIP-Seq_MESCs_Mouse0.75661472
118ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.75543877
119ZNF274_21170338_ChIP-Seq_K562_Hela0.75168038
120SMAD4_21741376_ChIP-Seq_HESCs_Human0.74760610
121CTCF_21964334_Chip-Seq_Bcells_Human0.74324568
122DNAJC2_21179169_ChIP-ChIP_NT2_Human0.74253943
123ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.73704799
124SMC1_22415368_ChIP-Seq_MEFs_Mouse0.72781199
125E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.72417958
126CTCF_26484167_Chip-Seq_Bcells_Mouse0.72300610
127SA1_27219007_Chip-Seq_ERYTHROID_Human0.71064583
128STAT1_20625510_ChIP-Seq_HELA_Human0.70730937
129TP53_20018659_ChIP-ChIP_R1E_Mouse0.68387568
130EGR1_19032775_ChIP-ChIP_M12_Human0.67502296
131CREB1_26743006_Chip-Seq_LNCaP_Human0.65547526
132DPY_21335234_ChIP-Seq_ESCs_Mouse0.64027484

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002837_dystrophic_cardiac_calcinosis6.81317226
2MP0003646_muscle_fatigue6.24786383
3MP0000751_myopathy5.37617977
4MP0004084_abnormal_cardiac_muscle5.31544982
5MP0004215_abnormal_myocardial_fiber4.58769212
6MP0004036_abnormal_muscle_relaxation4.25440555
7MP0000749_muscle_degeneration4.16862084
8MP0005330_cardiomyopathy3.77732512
9MP0004087_abnormal_muscle_fiber3.17222260
10MP0002972_abnormal_cardiac_muscle2.99419627
11MP0000750_abnormal_muscle_regeneration2.87115121
12MP0004130_abnormal_muscle_cell2.85449631
13MP0005620_abnormal_muscle_contractility2.76432360
14MP0002106_abnormal_muscle_physiology2.75080058
15MP0008775_abnormal_heart_ventricle2.73891526
16MP0003137_abnormal_impulse_conducting2.71911151
17MP0004145_abnormal_muscle_electrophysio2.66437517
18MP0001544_abnormal_cardiovascular_syste2.51996467
19MP0005385_cardiovascular_system_phenoty2.51996467
20MP0010630_abnormal_cardiac_muscle2.49948927
21MP0004484_altered_response_of2.48450488
22MP0002269_muscular_atrophy2.41472185
23MP0000747_muscle_weakness2.26291012
24MP0005369_muscle_phenotype2.23147025
25MP0006138_congestive_heart_failure2.20358201
26MP0000759_abnormal_skeletal_muscle2.20130775
27MP0003828_pulmonary_edema2.04740618
28MP0004085_abnormal_heartbeat1.92810374
29MP0004510_myositis1.90950189
30MP0003221_abnormal_cardiomyocyte_apopto1.90943974
31MP0006036_abnormal_mitochondrial_physio1.80840594
32MP0004233_abnormal_muscle_weight1.70119294
33MP0005666_abnormal_adipose_tissue1.67713978
34MP0002332_abnormal_exercise_endurance1.62538390
35MP0002127_abnormal_cardiovascular_syste1.50859029
36MP0003950_abnormal_plasma_membrane1.45318197
37MP0004185_abnormal_adipocyte_glucose1.37982531
38MP0005670_abnormal_white_adipose1.37833013
39MP0000343_altered_response_to1.26315151
40MP0002234_abnormal_pharynx_morphology1.13579322
41MP0005375_adipose_tissue_phenotype1.12681429
42MP0003567_abnormal_fetal_cardiomyocyte1.07118463
43MP0000266_abnormal_heart_morphology1.05886306
44MP0005165_increased_susceptibility_to1.03855539
45MP0006035_abnormal_mitochondrial_morpho1.02009038
46MP0004270_analgesia0.98304677
47MP0002108_abnormal_muscle_morphology0.97128609
48MP0001661_extended_life_span0.96173614
49MP0003279_aneurysm0.86785029
50MP0010368_abnormal_lymphatic_system0.85096967
51MP0005266_abnormal_metabolism0.84499130
52MP0005275_abnormal_skin_tensile0.80414137
53MP0000230_abnormal_systemic_arterial0.76496751
54MP0000733_abnormal_muscle_development0.74797142
55MP0003566_abnormal_cell_adhesion0.74217005
56MP0002971_abnormal_brown_adipose0.73854113
57MP0003705_abnormal_hypodermis_morpholog0.72954637
58MP0002128_abnormal_blood_circulation0.70625488
59MP0004043_abnormal_pH_regulation0.66013699
60MP0000003_abnormal_adipose_tissue0.62908362
61MP0005451_abnormal_body_composition0.61324404
62MP0005623_abnormal_meninges_morphology0.61127940
63MP0004147_increased_porphyrin_level0.60727798
64MP0002909_abnormal_adrenal_gland0.58860465
65MP0001879_abnormal_lymphatic_vessel0.58621256
66MP0003656_abnormal_erythrocyte_physiolo0.53753269
67MP0000013_abnormal_adipose_tissue0.52846963
68MP0008961_abnormal_basal_metabolism0.52710441
69MP0003806_abnormal_nucleotide_metabolis0.52408456
70MP0002078_abnormal_glucose_homeostasis0.52053276
71MP0003879_abnormal_hair_cell0.50514609
72MP0000767_abnormal_smooth_muscle0.48439938
73MP0005319_abnormal_enzyme/_coenzyme0.44402098
74MP0001299_abnormal_eye_distance/0.43901877
75MP0005187_abnormal_penis_morphology0.43798071
76MP0000579_abnormal_nail_morphology0.42317465
77MP0005535_abnormal_body_temperature0.41481909
78MP0005376_homeostasis/metabolism_phenot0.38836963
79MP0002796_impaired_skin_barrier0.36825644
80MP0005334_abnormal_fat_pad0.36675242
81MP0002925_abnormal_cardiovascular_devel0.36301850
82MP0000762_abnormal_tongue_morphology0.35342018
83MP0008438_abnormal_cutaneous_collagen0.34523258
84MP0000372_irregular_coat_pigmentation0.34028072
85MP0001853_heart_inflammation0.33190438
86MP0003195_calcinosis0.32892732
87MP0005166_decreased_susceptibility_to0.32712967
88MP0002638_abnormal_pupillary_reflex0.32652782
89MP0001784_abnormal_fluid_regulation0.32320375
90MP0003045_fibrosis0.32229740
91MP0004134_abnormal_chest_morphology0.30502676
92MP0001614_abnormal_blood_vessel0.28699457
93MP0002877_abnormal_melanocyte_morpholog0.28674185
94MP0003948_abnormal_gas_homeostasis0.28673072
95MP0005332_abnormal_amino_acid0.28387399
96MP0002118_abnormal_lipid_homeostasis0.27658882
97MP0010030_abnormal_orbit_morphology0.27590131
98MP0009115_abnormal_fat_cell0.27306547
99MP0002896_abnormal_bone_mineralization0.27128952
100MP0009840_abnormal_foam_cell0.26776330
101MP0002822_catalepsy0.25140977
102MP0004272_abnormal_basement_membrane0.24521612
103MP0004924_abnormal_behavior0.24478444
104MP0005386_behavior/neurological_phenoty0.24478444
105MP0009672_abnormal_birth_weight0.24382438
106MP0005584_abnormal_enzyme/coenzyme_acti0.22797017
107MP0003984_embryonic_growth_retardation0.22730377
108MP0003941_abnormal_skin_development0.21737879
109MP0002114_abnormal_axial_skeleton0.21702593
110MP0002088_abnormal_embryonic_growth/wei0.21504123
111MP0005423_abnormal_somatic_nervous0.19624822
112MP0005083_abnormal_biliary_tract0.19429975
113MP0009780_abnormal_chondrocyte_physiolo0.19340885
114MP0005452_abnormal_adipose_tissue0.19044121
115MP0002970_abnormal_white_adipose0.18970169
116MP0005167_abnormal_blood-brain_barrier0.18764205
117MP0004142_abnormal_muscle_tone0.18365736
118MP0008569_lethality_at_weaning0.18187173
119MP0008874_decreased_physiological_sensi0.17522563
120MP0002066_abnormal_motor_capabilities/c0.14898887
121MP0001346_abnormal_lacrimal_gland0.14007171
122MP0005409_darkened_coat_color0.13592426
123MP0009250_abnormal_appendicular_skeleto0.13525161

Predicted human phenotypes

RankGene SetZ-score
1Sudden death (HP:0001699)7.59654470
2Calf muscle hypertrophy (HP:0008981)6.68167318
3Ventricular tachycardia (HP:0004756)6.67214979
4Exercise-induced myalgia (HP:0003738)6.61914947
5Muscle hypertrophy of the lower extremities (HP:0008968)6.33803846
6Exercise-induced muscle cramps (HP:0003710)6.31478892
7Muscle fiber splitting (HP:0003555)5.92090358
8Atrial fibrillation (HP:0005110)5.59661609
9Myoglobinuria (HP:0002913)5.32251818
10Abnormality of the calf musculature (HP:0001430)5.29236616
11Hyporeflexia of lower limbs (HP:0002600)5.26772530
12Primary atrial arrhythmia (HP:0001692)5.23256729
13Supraventricular tachycardia (HP:0004755)5.05478206
14Supraventricular arrhythmia (HP:0005115)4.94234949
15Lipoatrophy (HP:0100578)4.92770551
16Right ventricular cardiomyopathy (HP:0011663)4.91584017
17Centrally nucleated skeletal muscle fibers (HP:0003687)4.83243576
18Abnormality of the left ventricular outflow tract (HP:0011103)4.70962433
19Subaortic stenosis (HP:0001682)4.70962433
20Syncope (HP:0001279)4.43464369
21Bundle branch block (HP:0011710)4.41755695
22Increased connective tissue (HP:0009025)4.35773914
23EMG: myopathic abnormalities (HP:0003458)4.34857004
24Round ear (HP:0100830)4.30679614
25Dilated cardiomyopathy (HP:0001644)4.23238884
26Palpitations (HP:0001962)4.21722677
27Difficulty running (HP:0009046)4.15158184
28Rhabdomyolysis (HP:0003201)4.12539708
29Ulnar deviation of the wrist (HP:0003049)4.06154478
30Prolonged QT interval (HP:0001657)3.96974997
31Asymmetric septal hypertrophy (HP:0001670)3.90903320
32Muscle fiber inclusion bodies (HP:0100299)3.75172224
33Ventricular arrhythmia (HP:0004308)3.71694935
34Heart block (HP:0012722)3.67560309
35Myotonia (HP:0002486)3.63268944
36Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)3.60482873
37Abnormal atrioventricular conduction (HP:0005150)3.48836461
38Atrioventricular block (HP:0001678)3.48288894
39Calcaneovalgus deformity (HP:0001848)3.44380445
40Frequent falls (HP:0002359)3.39593336
41Ventricular fibrillation (HP:0001663)3.38354426
42Type 1 muscle fiber predominance (HP:0003803)3.19075800
43Difficulty climbing stairs (HP:0003551)3.15390251
44Absent phalangeal crease (HP:0006109)3.08874855
45Deformed tarsal bones (HP:0008119)3.03549250
46Muscle stiffness (HP:0003552)2.97408732
47Hepatic necrosis (HP:0002605)2.92324788
48Nemaline bodies (HP:0003798)2.92235005
49Distal lower limb muscle weakness (HP:0009053)2.91334655
50Abnormal mitochondria in muscle tissue (HP:0008316)2.86911018
51Increased variability in muscle fiber diameter (HP:0003557)2.84744937
52Abnormal EKG (HP:0003115)2.83784484
53Areflexia of lower limbs (HP:0002522)2.81691934
54Acute necrotizing encephalopathy (HP:0006965)2.81352542
55Left ventricular hypertrophy (HP:0001712)2.75618769
56Malignant hyperthermia (HP:0002047)2.74575611
57Abnormality of skeletal muscle fiber size (HP:0012084)2.73966418
58Ketoacidosis (HP:0001993)2.71874032
59Bulbar palsy (HP:0001283)2.70636438
60Palmoplantar keratoderma (HP:0000982)2.65657647
61Neck muscle weakness (HP:0000467)2.63731327
62Conjunctival hamartoma (HP:0100780)2.58074334
63Hypoglycemic coma (HP:0001325)2.54721011
64Abnormal finger flexion creases (HP:0006143)2.52884986
65Hepatocellular necrosis (HP:0001404)2.50638272
66Limb-girdle muscle atrophy (HP:0003797)2.48828038
67Increased muscle lipid content (HP:0009058)2.46642185
68Progressive muscle weakness (HP:0003323)2.45572986
69Testicular atrophy (HP:0000029)2.45511258
70Acute encephalopathy (HP:0006846)2.42282931
71Abnormality of fatty-acid metabolism (HP:0004359)2.42087554
72Rimmed vacuoles (HP:0003805)2.39082337
73Weak cry (HP:0001612)2.37550069
74Abnormality of dicarboxylic acid metabolism (HP:0010995)2.34257173
75Dicarboxylic aciduria (HP:0003215)2.34257173
76Progressive macrocephaly (HP:0004481)2.33780297
77Slender build (HP:0001533)2.32569747
78Mitochondrial inheritance (HP:0001427)2.27442639
79Distal lower limb amyotrophy (HP:0008944)2.25594586
80Spinal rigidity (HP:0003306)2.22586676
81Cerebral edema (HP:0002181)2.22307038
82Hypoplastic ischia (HP:0003175)2.21128966
83Lower limb amyotrophy (HP:0007210)2.17806250
84Facial diplegia (HP:0001349)2.16547761
85Increased CSF lactate (HP:0002490)2.15304747
86Exercise intolerance (HP:0003546)2.13402821
87Muscular dystrophy (HP:0003560)2.13010657
88Increased intramyocellular lipid droplets (HP:0012240)2.12931650
89Abnormality of the neuromuscular junction (HP:0003398)2.10981111
90Fatigable weakness (HP:0003473)2.10981111
91Abnormality of alanine metabolism (HP:0010916)2.08910708
92Hyperalaninemia (HP:0003348)2.08910708
93Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.08910708
94Hyperkalemia (HP:0002153)2.08487241
95Hamartoma of the eye (HP:0010568)2.07918354
96Waddling gait (HP:0002515)2.05064404
97Hip contracture (HP:0003273)2.03968182
98Abnormality of the shoulder girdle musculature (HP:0001435)2.02786599
99Lactic acidosis (HP:0003128)2.02079332
100Fetal akinesia sequence (HP:0001989)2.01661106
101Abnormality of the foot musculature (HP:0001436)2.00312198
102Sudden cardiac death (HP:0001645)1.98377315
103EMG: neuropathic changes (HP:0003445)1.97963398
104Gowers sign (HP:0003391)1.96790955
105Ketosis (HP:0001946)1.96708562
106Foot dorsiflexor weakness (HP:0009027)1.96607566
107Myopathic facies (HP:0002058)1.95177176
108Dysmetric saccades (HP:0000641)1.95176507
109Abnormality of the calcaneus (HP:0008364)1.95088965
110Respiratory failure (HP:0002878)1.94330720
111Mildly elevated creatine phosphokinase (HP:0008180)1.93196212
112Generalized muscle weakness (HP:0003324)1.93145001
113Ragged-red muscle fibers (HP:0003200)1.92876719
114Large for gestational age (HP:0001520)1.92590850
115Scapular winging (HP:0003691)1.92158508
116Pheochromocytoma (HP:0002666)1.91918905
117Abnormality of the ischium (HP:0003174)1.91285333
118Congestive heart failure (HP:0001635)1.90202799
119Distal arthrogryposis (HP:0005684)1.90175237
120Neoplasm of head and neck (HP:0012288)1.88790001
121Esophageal neoplasm (HP:0100751)1.88790001
122Central scotoma (HP:0000603)1.88506394
123Proximal amyotrophy (HP:0007126)1.86579401
124Respiratory insufficiency due to muscle weakness (HP:0002747)1.85008983
125Limb-girdle muscle weakness (HP:0003325)1.67785368
126Abnormality of the hip-girdle musculature (HP:0001445)1.61768168
127Abnormality of the musculature of the pelvis (HP:0001469)1.61768168
128Pelvic girdle muscle weakness (HP:0003749)1.56108360
129Shoulder girdle muscle weakness (HP:0003547)1.56010384
130Steppage gait (HP:0003376)1.51845348
131Nonprogressive disorder (HP:0003680)1.51747879
132Paralysis (HP:0003470)1.47811831
133Limited hip movement (HP:0008800)1.35990661
134Metatarsus adductus (HP:0001840)1.35312786

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TTN6.61607245
2OBSCN5.14771067
3PHKG14.43006181
4PHKG24.43006181
5PDK43.52817658
6PDK33.52817658
7LMTK23.47173611
8MYLK3.01617569
9DMPK2.92143809
10PKN22.65555149
11TRIB32.49587809
12BCKDK2.48308584
13PDK22.16839626
14MUSK2.12935814
15PINK12.12889431
16PIK3CA2.10650159
17NEK12.08807352
18TIE11.80091574
19STK241.69803779
20GRK71.60124357
21MAP3K71.29291265
22PAK31.22973401
23PRKD11.21539988
24CAMK2D1.19944836
25MAP2K31.14795496
26MAPK121.07934327
27LIMK11.03020410
28MARK10.98868880
29EEF2K0.98316697
30MAPKAPK30.97662468
31TRPM70.92365420
32ILK0.92275694
33INSRR0.90545124
34STK40.90396247
35PRKAA20.90169895
36PRKAA10.88758648
37ROCK10.86570418
38MOS0.85141689
39PKN10.83556440
40WNK40.83285991
41NME10.82012508
42ZAK0.81953730
43RIPK10.81734283
44MAP3K50.80203726
45MAP3K30.78470028
46PIK3CG0.74180955
47EPHB10.72033810
48CDC42BPA0.70685345
49FLT30.69391059
50CAMK40.67718827
51DYRK1B0.64645692
52CCNB10.63562290
53MAP3K60.62638021
54STK38L0.62187608
55MAP3K130.60391135
56PDGFRA0.59957597
57TGFBR20.59804803
58ERBB30.56696356
59MAPK40.54808078
60STK380.53981664
61CAMK2A0.53705198
62WNK10.53675127
63ROCK20.51428612
64NEK90.51367594
65DAPK30.50445312
66MAP2K10.49604974
67RPS6KL10.48965285
68RPS6KC10.48965285
69CAMK2B0.47718998
70KSR20.47140261
71PRKACB0.46627582
72RPS6KA60.41532305
73CAMK10.40751253
74PRKCE0.39728023
75LATS20.39471689
76ICK0.39227371
77PDPK10.38965679
78PRKACA0.38768820
79KDR0.38728968
80PRKACG0.37671428
81CAMK2G0.36437507
82SIK10.35880613
83PTK60.35483777
84TAOK20.35395584
85JAK10.35366840
86AKT20.35142542
87STK390.34297645
88MAP2K60.32719767
89PDK10.32310452
90PRPF4B0.31343707
91LATS10.31087151
92PTK2B0.30219611
93NME20.30074701
94ARAF0.30056583
95PRKCH0.27745045
96RPS6KA10.27104021
97EPHB20.25238386
98SGK30.24890074
99FER0.24845474
100FGFR40.24497181
101MAP2K40.23806182
102ZAP700.23532880
103SGK20.22952897
104SGK10.22797745
105TAOK10.21384397
106RPS6KB20.20191901
107MAPK110.20142327
108MAPK100.20142056
109MAP3K110.19628370
110PRKG10.18594730
111MARK20.18443593
112MARK30.18245287
113EPHA30.17756712
114MAP3K10.17700175
115RPS6KB10.16781721
116RET0.16774575
117MAPK70.16421477
118LRRK20.15489332
119RPS6KA30.15362970
120MTOR0.14920137
121TBK10.14212903
122JAK20.14137122
123FGFR30.12876877
124RPS6KA20.11823752
125PRKG20.11619168
126TYK20.10222354
127SGK2230.09947272
128SGK4940.09947272
129RAF10.07746184
130MAPK150.07527109
131BRAF0.05388622
132MAPK90.03592574
133STK110.03255571

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000206.02812078
22-Oxocarboxylic acid metabolism_Homo sapiens_hsa012104.26548614
3Cardiac muscle contraction_Homo sapiens_hsa042604.07622434
4Dilated cardiomyopathy_Homo sapiens_hsa054143.63882610
5Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054103.59219134
6Propanoate metabolism_Homo sapiens_hsa006403.40619199
7Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.24258872
8Parkinsons disease_Homo sapiens_hsa050123.04137668
9Oxidative phosphorylation_Homo sapiens_hsa001903.01011750
10Fatty acid degradation_Homo sapiens_hsa000712.96654928
11Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.55031444
12Carbon metabolism_Homo sapiens_hsa012002.45048036
13Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.35881948
14Alzheimers disease_Homo sapiens_hsa050102.33817807
15Fatty acid metabolism_Homo sapiens_hsa012122.28613692
16Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.16940132
17Huntingtons disease_Homo sapiens_hsa050161.83828047
18Pyruvate metabolism_Homo sapiens_hsa006201.77166592
19Viral myocarditis_Homo sapiens_hsa054161.74339388
20Pentose phosphate pathway_Homo sapiens_hsa000301.69615844
21Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.62328293
22Fatty acid elongation_Homo sapiens_hsa000621.47448267
23Butanoate metabolism_Homo sapiens_hsa006501.36045588
24Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.34614156
25Insulin resistance_Homo sapiens_hsa049311.20766730
26Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.19098649
27Adipocytokine signaling pathway_Homo sapiens_hsa049201.14377559
28PPAR signaling pathway_Homo sapiens_hsa033201.12615421
29Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.10978897
30Starch and sucrose metabolism_Homo sapiens_hsa005001.10257109
31Glucagon signaling pathway_Homo sapiens_hsa049221.05650540
32Insulin signaling pathway_Homo sapiens_hsa049100.99363879
33Biosynthesis of amino acids_Homo sapiens_hsa012300.97440348
34cGMP-PKG signaling pathway_Homo sapiens_hsa040220.95102450
35Calcium signaling pathway_Homo sapiens_hsa040200.84913961
36beta-Alanine metabolism_Homo sapiens_hsa004100.77713986
37AMPK signaling pathway_Homo sapiens_hsa041520.76417018
38Lysine degradation_Homo sapiens_hsa003100.74722315
39Tryptophan metabolism_Homo sapiens_hsa003800.74067345
40Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.73829392
41Oxytocin signaling pathway_Homo sapiens_hsa049210.71145133
42Type II diabetes mellitus_Homo sapiens_hsa049300.69860060
43Fatty acid biosynthesis_Homo sapiens_hsa000610.69152233
44Arginine and proline metabolism_Homo sapiens_hsa003300.66800775
45Focal adhesion_Homo sapiens_hsa045100.66023548
46HIF-1 signaling pathway_Homo sapiens_hsa040660.65107699
47Vascular smooth muscle contraction_Homo sapiens_hsa042700.62065235
48Long-term potentiation_Homo sapiens_hsa047200.61442452
49Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.61315459
50Arginine biosynthesis_Homo sapiens_hsa002200.59946153
51Nitrogen metabolism_Homo sapiens_hsa009100.58148066
52Galactose metabolism_Homo sapiens_hsa000520.57756241
53Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.57033906
54Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.52593530
55Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.51491365
56Peroxisome_Homo sapiens_hsa041460.50779529
57Phenylalanine metabolism_Homo sapiens_hsa003600.49056561
58Renin secretion_Homo sapiens_hsa049240.48472170
59Tight junction_Homo sapiens_hsa045300.47721801
60Thyroid hormone signaling pathway_Homo sapiens_hsa049190.47701265
61Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.46387947
62Central carbon metabolism in cancer_Homo sapiens_hsa052300.44895312
63Gastric acid secretion_Homo sapiens_hsa049710.42766366
64Fructose and mannose metabolism_Homo sapiens_hsa000510.41220587
65Longevity regulating pathway - mammal_Homo sapiens_hsa042110.41180926
66cAMP signaling pathway_Homo sapiens_hsa040240.40256975
67Circadian rhythm_Homo sapiens_hsa047100.40151772
68ECM-receptor interaction_Homo sapiens_hsa045120.38803083
69Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.38428555
70Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.38059562
71Sulfur relay system_Homo sapiens_hsa041220.33465527
72Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.33144232
73Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.32651654
74Insulin secretion_Homo sapiens_hsa049110.31398400
75Adherens junction_Homo sapiens_hsa045200.31328109
76Amoebiasis_Homo sapiens_hsa051460.29729036
77Fat digestion and absorption_Homo sapiens_hsa049750.23062807
78Histidine metabolism_Homo sapiens_hsa003400.22609024
79Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.22591553
80Circadian entrainment_Homo sapiens_hsa047130.21662231
81VEGF signaling pathway_Homo sapiens_hsa043700.21559723
82Metabolic pathways_Homo sapiens_hsa011000.21379093
83Platelet activation_Homo sapiens_hsa046110.21363853
84Regulation of actin cytoskeleton_Homo sapiens_hsa048100.21246860
85Renal cell carcinoma_Homo sapiens_hsa052110.20528680
86GnRH signaling pathway_Homo sapiens_hsa049120.20355673
87Aldosterone synthesis and secretion_Homo sapiens_hsa049250.20172497
88Dorso-ventral axis formation_Homo sapiens_hsa043200.19686035
89Leukocyte transendothelial migration_Homo sapiens_hsa046700.18803924
90Amphetamine addiction_Homo sapiens_hsa050310.17867656
91Pancreatic secretion_Homo sapiens_hsa049720.17180346
92Regulation of autophagy_Homo sapiens_hsa041400.17172650
93Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.16293137
94Melanogenesis_Homo sapiens_hsa049160.15653830
95Proteoglycans in cancer_Homo sapiens_hsa052050.15467969
96Bile secretion_Homo sapiens_hsa049760.15056535
97Toxoplasmosis_Homo sapiens_hsa051450.12936945
98mTOR signaling pathway_Homo sapiens_hsa041500.12513090
99Ovarian steroidogenesis_Homo sapiens_hsa049130.12410185
100Long-term depression_Homo sapiens_hsa047300.11071388
101Glioma_Homo sapiens_hsa052140.09917166
102Cholinergic synapse_Homo sapiens_hsa047250.09331323
103FoxO signaling pathway_Homo sapiens_hsa040680.09237180
104AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.07972313
105Glycerolipid metabolism_Homo sapiens_hsa005610.07928086
106Tyrosine metabolism_Homo sapiens_hsa003500.07881366
107Glycerophospholipid metabolism_Homo sapiens_hsa005640.07513798
108Neurotrophin signaling pathway_Homo sapiens_hsa047220.07481751
109Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.06975132
110Notch signaling pathway_Homo sapiens_hsa043300.06575308
111alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.06542832
112MAPK signaling pathway_Homo sapiens_hsa040100.06078382
113ABC transporters_Homo sapiens_hsa020100.05894029
114Gap junction_Homo sapiens_hsa045400.04583317
115Cysteine and methionine metabolism_Homo sapiens_hsa002700.04332114
116Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.02006894
117Taste transduction_Homo sapiens_hsa047420.00178686
118Salmonella infection_Homo sapiens_hsa05132-0.0147822
119Salivary secretion_Homo sapiens_hsa04970-0.0118689

Most similar genes based on co-expression Upload to Enrichr

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