KLHL41

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





Description: This gene is a member of the kelch-like family. The encoded protein contains a BACK domain, a BTB/POZ domain, and 5 Kelch repeats. This protein is thought to function in skeletal muscle development and maintenance. Mutations in this gene have been associated with nemaline myopathy (NM), a rare congenital muscle disorder. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1plasma membrane repair (GO:0001778)8.39164749
2actin filament-based movement (GO:0030048)8.30474396
3skeletal muscle adaptation (GO:0043501)7.93606560
4skeletal muscle fiber development (GO:0048741)7.76341325
5sarcomere organization (GO:0045214)7.68940249
6* striated muscle contraction (GO:0006941)6.87244823
7myotube cell development (GO:0014904)6.82722359
8response to stimulus involved in regulation of muscle adaptation (GO:0014874)6.81317147
9positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)6.73026857
10negative regulation of potassium ion transmembrane transporter activity (GO:1901017)6.47261380
11pyrimidine ribonucleoside catabolic process (GO:0046133)6.02075889
12skeletal muscle tissue regeneration (GO:0043403)5.99662891
13* myofibril assembly (GO:0030239)5.89814868
14regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)5.85885427
15response to inactivity (GO:0014854)5.80767745
16striated muscle atrophy (GO:0014891)5.73622081
17regulation of cell communication by electrical coupling (GO:0010649)5.67722388
18cytidine metabolic process (GO:0046087)5.67279402
19cytidine catabolic process (GO:0006216)5.67279402
20cytidine deamination (GO:0009972)5.67279402
21* muscle contraction (GO:0006936)5.57641016
22regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.46519257
23response to muscle activity (GO:0014850)5.34915146
24regulation of relaxation of muscle (GO:1901077)5.33376114
25negative regulation of potassium ion transmembrane transport (GO:1901380)5.10823684
26muscle atrophy (GO:0014889)5.10301652
27muscle fiber development (GO:0048747)5.08193108
28* actomyosin structure organization (GO:0031032)5.07737946
29* muscle system process (GO:0003012)5.02567913
30cardiac myofibril assembly (GO:0055003)5.02033426
31striated muscle adaptation (GO:0014888)5.01400204
32regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)4.99258864
33creatine metabolic process (GO:0006600)4.97606469
34carnitine shuttle (GO:0006853)4.96136855
35cardiac muscle contraction (GO:0060048)4.79109918
36glycogen catabolic process (GO:0005980)4.75653419
37regulation of acyl-CoA biosynthetic process (GO:0050812)4.49879363
38glucan catabolic process (GO:0009251)4.42575506
39regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)4.39598416
40glycogen biosynthetic process (GO:0005978)4.32437944
41glucan biosynthetic process (GO:0009250)4.32437944
42striated muscle cell development (GO:0055002)4.28460766
43negative regulation of muscle hypertrophy (GO:0014741)4.25860954
44muscle cell fate commitment (GO:0042693)4.21370911
45muscle cell cellular homeostasis (GO:0046716)4.19759949
46muscle organ development (GO:0007517)4.19627777
47positive regulation of myotube differentiation (GO:0010831)4.18423585
48NADH metabolic process (GO:0006734)4.17233540
49cellular polysaccharide catabolic process (GO:0044247)4.16111998
50muscle adaptation (GO:0043500)4.14826872
51muscle structure development (GO:0061061)4.12197370
52fatty acid transmembrane transport (GO:1902001)4.12162904
53heart process (GO:0003015)4.11397553
54heart contraction (GO:0060047)4.11397553
55cardiac muscle cell development (GO:0055013)4.09817138
56skeletal muscle tissue development (GO:0007519)4.08612085
57tricarboxylic acid cycle (GO:0006099)4.07700656
58regulation of striated muscle contraction (GO:0006942)4.01025942
59muscle hypertrophy (GO:0014896)4.00294935
60regulation of sarcomere organization (GO:0060297)3.99848304
61polysaccharide catabolic process (GO:0000272)3.99423550
62regulation of coenzyme metabolic process (GO:0051196)3.98265340
63regulation of cofactor metabolic process (GO:0051193)3.98265340
64cardiac cell development (GO:0055006)3.83985187
65positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.81575738
66regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.79652564
67purine nucleotide salvage (GO:0032261)3.73376381
68myotube differentiation (GO:0014902)3.73126870
69regulation of actin filament-based movement (GO:1903115)3.71736317
70adult heart development (GO:0007512)3.69236857
71myoblast fusion (GO:0007520)3.65979525
72striated muscle tissue development (GO:0014706)3.64628163
73muscle cell development (GO:0055001)3.64261029
74IMP metabolic process (GO:0046040)3.64172602
75positive regulation of myoblast differentiation (GO:0045663)3.62403299
76negative regulation of skeletal muscle tissue development (GO:0048642)3.60257205
77carnitine transmembrane transport (GO:1902603)3.59219029
78striated muscle hypertrophy (GO:0014897)3.55030069
79ubiquinone biosynthetic process (GO:0006744)3.53068898
80quinone biosynthetic process (GO:1901663)3.53068898
81negative regulation of cAMP-mediated signaling (GO:0043951)3.52684750
82negative regulation of protein localization to cell surface (GO:2000009)3.52546485
83regulation of membrane repolarization (GO:0060306)3.51770646
84muscle organ morphogenesis (GO:0048644)3.50411834
85negative regulation of calcium ion transmembrane transport (GO:1903170)3.49930672
86negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.49930672
87cardiac muscle hypertrophy (GO:0003300)3.48582060
88positive regulation of mitochondrial calcium ion concentration (GO:0051561)3.41397541
89glycogen metabolic process (GO:0005977)3.38118078
90regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.37176144
91negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.36771139
92regulation of muscle system process (GO:0090257)3.36608308
93regulation of sulfur metabolic process (GO:0042762)3.35926368
94muscle tissue morphogenesis (GO:0060415)3.33787484
95response to activity (GO:0014823)3.31822774
96glucan metabolic process (GO:0044042)3.30532557
97cellular glucan metabolic process (GO:0006073)3.30532557
982-oxoglutarate metabolic process (GO:0006103)3.28834115
99fructose metabolic process (GO:0006000)3.27524562
100ventricular cardiac muscle cell action potential (GO:0086005)3.26643562
101syncytium formation by plasma membrane fusion (GO:0000768)3.25653720
102regulation of calcium ion transmembrane transport (GO:1903169)3.24895800
103regulation of calcium ion transmembrane transporter activity (GO:1901019)3.24895800
104cardiac muscle adaptation (GO:0014887)3.23717691
105cardiac muscle hypertrophy in response to stress (GO:0014898)3.23717691
106muscle hypertrophy in response to stress (GO:0003299)3.23717691
107syncytium formation (GO:0006949)3.23627359
108gluconeogenesis (GO:0006094)3.22757270
109cardiac muscle tissue morphogenesis (GO:0055008)3.22166795
110regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.21602078
111muscle tissue development (GO:0060537)3.20957328
112regulation of the force of heart contraction (GO:0002026)3.18380472
113positive regulation of cation channel activity (GO:2001259)3.12250961
114regulation of muscle contraction (GO:0006937)3.11844363
115negative regulation of muscle contraction (GO:0045932)3.04881970
116muscle filament sliding (GO:0030049)13.5327964
117actin-myosin filament sliding (GO:0033275)13.5327964
118regulation of skeletal muscle contraction (GO:0014819)11.6403867
119skeletal muscle contraction (GO:0003009)11.3939064
120actin-mediated cell contraction (GO:0070252)11.2385065
121sarcoplasmic reticulum calcium ion transport (GO:0070296)10.1052939

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human8.49599095
2TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse5.21809258
3EZH2_22144423_ChIP-Seq_EOC_Human4.83182483
4PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.41163340
5ESR1_20079471_ChIP-ChIP_T-47D_Human4.21932150
6RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.30201415
7TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.27370406
8TBX20_22328084_ChIP-Seq_HEART_Mouse3.17631075
9TBX20_22080862_ChIP-Seq_HEART_Mouse3.17631075
10TP63_17297297_ChIP-ChIP_HaCaT_Human2.89848335
11ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.86453779
12MEF2A_21415370_ChIP-Seq_HL-1_Mouse2.81169430
13RARG_19884340_ChIP-ChIP_MEFs_Mouse2.77016744
14CDX2_19796622_ChIP-Seq_MESCs_Mouse2.58246778
15EP300_21415370_ChIP-Seq_HL-1_Mouse2.37731658
16ESR1_21235772_ChIP-Seq_MCF-7_Human2.30594859
17BCL3_23251550_ChIP-Seq_MUSCLE_Mouse2.27410178
18CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.27103512
19GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.24451339
20ZNF652_21678463_ChIP-ChIP_ZR75-1_Human2.19376584
21PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.18389316
22GATA4_21415370_ChIP-Seq_HL-1_Mouse2.08863918
23PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.88398488
24TRIM28_21343339_ChIP-Seq_HEK293_Human1.75872786
25ZNF263_19887448_ChIP-Seq_K562_Human1.72415636
26NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.69945667
27EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.55168144
28P63_26484246_Chip-Seq_KERATINOCYTES_Human1.53012493
29NFIB_24661679_ChIP-Seq_LUNG_Mouse1.51642780
30YY1_22570637_ChIP-Seq_MALME-3M_Human1.51574249
31TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.50814323
32CTCF_27219007_Chip-Seq_Bcells_Human1.47646305
33GBX2_23144817_ChIP-Seq_PC3_Human1.46600821
34ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.43107379
35EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.38835272
36OCT4_20526341_ChIP-Seq_ESCs_Human1.36518613
37ESR2_21235772_ChIP-Seq_MCF-7_Human1.36462989
38PCGF2_27294783_Chip-Seq_ESCs_Mouse1.35806789
39FOXH1_21741376_ChIP-Seq_ESCs_Human1.35496119
40GATA6_21074721_ChIP-Seq_CACO-2_Mouse1.34184073
41BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.33984953
42CJUN_26792858_Chip-Seq_BT549_Human1.33016574
43LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.31919066
44DROSHA_22980978_ChIP-Seq_HELA_Human1.31494363
45RBPJ_22232070_ChIP-Seq_NCS_Mouse1.29177612
46CTCF_21964334_ChIP-Seq_BJAB-B_Human1.27229406
47IGF1R_20145208_ChIP-Seq_DFB_Human1.27166399
48SUZ12_27294783_Chip-Seq_NPCs_Mouse1.24475523
49SMC3_22415368_ChIP-Seq_MEFs_Mouse1.22430753
50GATA6_21074721_ChIP-Seq_CACO-2_Human1.22350018
51TDRD3_21172665_ChIP-Seq_MCF-7_Human1.20849280
52ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.18941640
53SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.16971056
54ZNF274_21170338_ChIP-Seq_K562_Hela1.16368097
55CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.15050641
56E2F1_20622854_ChIP-Seq_HELA_Human1.14217468
57THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.14149163
58NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.13573888
59PCGF2_27294783_Chip-Seq_NPCs_Mouse1.11268168
60CRX_20693478_ChIP-Seq_RETINA_Mouse1.11169772
61CEBPB_22108803_ChIP-Seq_LS180_Human1.08184873
62SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.06977600
63ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.06313450
64PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.06233665
65BCL6_27268052_Chip-Seq_Bcells_Human1.05251161
66AR_21572438_ChIP-Seq_LNCaP_Human1.04994161
67FLI1_27457419_Chip-Seq_LIVER_Mouse1.03958219
68SA1_27219007_Chip-Seq_Bcells_Human1.03554289
69EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.03479873
70RAC3_21632823_ChIP-Seq_H3396_Human1.03136998
71PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.01738539
72NRF2_20460467_ChIP-Seq_MEFs_Mouse1.00959638
73NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.00959638
74CSB_26484114_Chip-Seq_FIBROBLAST_Human1.00928136
75NANOG_20526341_ChIP-Seq_ESCs_Human1.00704264
76STAT1_20625510_ChIP-Seq_HELA_Human1.00193907
77RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.99483111
78SOX2_21211035_ChIP-Seq_LN229_Gbm0.98715858
79NFE2_27457419_Chip-Seq_LIVER_Mouse0.98140133
80PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.96111472
81SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.95907119
82SRF_21415370_ChIP-Seq_HL-1_Mouse0.95891134
83PHF8_20622853_ChIP-Seq_HELA_Human0.95110420
84CTCF_21964334_Chip-Seq_Bcells_Human0.94738343
85GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.94529822
86GATA1_22025678_ChIP-Seq_K562_Human0.94434393
87SMC1_22415368_ChIP-Seq_MEFs_Mouse0.94303988
88MTF2_20144788_ChIP-Seq_MESCs_Mouse0.94138780
89SPI1_20517297_ChIP-Seq_HL60_Human0.92556482
90RARB_27405468_Chip-Seq_BRAIN_Mouse0.92478281
91MYC_19829295_ChIP-Seq_ESCs_Human0.92218635
92NR3C1_23031785_ChIP-Seq_PC12_Mouse0.90501178
93RBPJ_21746931_ChIP-Seq_IB4_Human0.90288584
94OCT4_21477851_ChIP-Seq_ESCs_Mouse0.89398415
95SMAD3_21741376_ChIP-Seq_HESCs_Human0.89257045
96P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.88927831
97HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.88169376
98GATA3_21878914_ChIP-Seq_MCF-7_Human0.87398809
99EZH2_27294783_Chip-Seq_NPCs_Mouse0.86979115
100CTCF_26484167_Chip-Seq_Bcells_Mouse0.86957070
101CBX2_27304074_Chip-Seq_ESCs_Mouse0.86116827
102JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.85502516
103KLF5_20875108_ChIP-Seq_MESCs_Mouse0.84825200
104PPAR_26484153_Chip-Seq_NCI-H1993_Human0.84821381
105CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.84557049
106TP53_20018659_ChIP-ChIP_R1E_Mouse0.83995181
107P68_20966046_ChIP-Seq_HELA_Human0.82950131
108SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.82885216
109EZH2_18974828_ChIP-Seq_MESCs_Mouse0.82488708
110RNF2_18974828_ChIP-Seq_MESCs_Mouse0.82488708
111P53_22127205_ChIP-Seq_FIBROBLAST_Human0.82033668
112UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.81980655
113PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.81229236
114WT1_19549856_ChIP-ChIP_CCG9911_Human0.80852519
115TAF2_19829295_ChIP-Seq_ESCs_Human0.80813739
116TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.80558712
117PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.80210341
118VDR_22108803_ChIP-Seq_LS180_Human0.79032977
119CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.78347202
120EZH2_27304074_Chip-Seq_ESCs_Mouse0.78275236
121LXR_22158963_ChIP-Seq_LIVER_Mouse0.78257912
122HOXB7_26014856_ChIP-Seq_BT474_Human0.78037147
123CBP_21632823_ChIP-Seq_H3396_Human0.77415813
124SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.77306060
125CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.77279605
126EGR1_19032775_ChIP-ChIP_M12_Human0.76934081
127FOXH1_21741376_ChIP-Seq_EPCs_Human0.75957368
128HTT_18923047_ChIP-ChIP_STHdh_Human0.75951179
129STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.75751892
130TP63_22573176_ChIP-Seq_HFKS_Human0.75662445
131EZH2_27294783_Chip-Seq_ESCs_Mouse0.75135108
132GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse0.75109170
133PCGF4_22325352_ChIP-Seq_293T-Rex_Human0.75100634
134CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.74378568
135STAT3_1855785_ChIP-Seq_MESCs_Mouse0.74202850
136MYC_27129775_Chip-Seq_CORNEA_Mouse0.74184835
137FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.74108160
138STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.74093363
139YAP1_20516196_ChIP-Seq_MESCs_Mouse0.73538503
140SMAD4_21799915_ChIP-Seq_A2780_Human0.73452699
141ER_23166858_ChIP-Seq_MCF-7_Human0.73233060
142CTNNB1_20460455_ChIP-Seq_HCT116_Human0.73216064
143GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human0.73199562
144EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse0.72269081
145P53_22387025_ChIP-Seq_ESCs_Mouse0.71934633
146SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.71246895
147RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.71186898
148RXR_22158963_ChIP-Seq_LIVER_Mouse0.69634255

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004145_abnormal_muscle_electrophysio6.64104594
2MP0000749_muscle_degeneration6.55311718
3MP0003646_muscle_fatigue6.16599189
4MP0000751_myopathy5.99740498
5MP0002837_dystrophic_cardiac_calcinosis4.36437440
6MP0002106_abnormal_muscle_physiology4.17462511
7MP0000747_muscle_weakness4.13406609
8MP0004036_abnormal_muscle_relaxation3.94761979
9MP0000759_abnormal_skeletal_muscle3.65182941
10MP0000750_abnormal_muscle_regeneration3.61930901
11MP0004087_abnormal_muscle_fiber3.61341906
12MP0005369_muscle_phenotype3.50945970
13MP0002269_muscular_atrophy3.39712299
14MP0005620_abnormal_muscle_contractility3.16167058
15MP0004084_abnormal_cardiac_muscle2.85317278
16MP0004130_abnormal_muscle_cell2.74276415
17MP0005330_cardiomyopathy2.68347165
18MP0000733_abnormal_muscle_development2.59765166
19MP0004215_abnormal_myocardial_fiber2.40796234
20MP0004233_abnormal_muscle_weight2.15797078
21MP0002108_abnormal_muscle_morphology2.07427676
22MP0002332_abnormal_exercise_endurance1.95366659
23MP0004484_altered_response_of1.94913839
24MP0002972_abnormal_cardiac_muscle1.94611373
25MP0003950_abnormal_plasma_membrane1.87882911
26MP0006036_abnormal_mitochondrial_physio1.79217114
27MP0010630_abnormal_cardiac_muscle1.67188390
28MP0003137_abnormal_impulse_conducting1.38314172
29MP0001544_abnormal_cardiovascular_syste1.35747134
30MP0005385_cardiovascular_system_phenoty1.35747134
31MP0003221_abnormal_cardiomyocyte_apopto1.25271824
32MP0002971_abnormal_brown_adipose1.22808679
33MP0005666_abnormal_adipose_tissue1.18684478
34MP0005275_abnormal_skin_tensile1.18644142
35MP0001661_extended_life_span1.18398644
36MP0004185_abnormal_adipocyte_glucose1.09931117
37MP0008775_abnormal_heart_ventricle1.06427220
38MP0004270_analgesia1.04320676
39MP0003828_pulmonary_edema1.01817323
40MP0005670_abnormal_white_adipose1.00324587
41MP0002127_abnormal_cardiovascular_syste0.95962318
42MP0002234_abnormal_pharynx_morphology0.95946272
43MP0006138_congestive_heart_failure0.94263439
44MP0000013_abnormal_adipose_tissue0.92852016
45MP0005266_abnormal_metabolism0.91583022
46MP0005375_adipose_tissue_phenotype0.90096300
47MP0009780_abnormal_chondrocyte_physiolo0.87750568
48MP0002822_catalepsy0.86519029
49MP0006035_abnormal_mitochondrial_morpho0.85597812
50MP0000762_abnormal_tongue_morphology0.83622678
51MP0004510_myositis0.83354531
52MP0003567_abnormal_fetal_cardiomyocyte0.76987413
53MP0000372_irregular_coat_pigmentation0.74601906
54MP0004147_increased_porphyrin_level0.72320473
55MP0000343_altered_response_to0.70105258
56MP0000266_abnormal_heart_morphology0.68707269
57MP0000579_abnormal_nail_morphology0.67325622
58MP0004085_abnormal_heartbeat0.67312440
59MP0003941_abnormal_skin_development0.66386852
60MP0005451_abnormal_body_composition0.66110757
61MP0009250_abnormal_appendicular_skeleto0.62733851
62MP0003879_abnormal_hair_cell0.62412635
63MP0005503_abnormal_tendon_morphology0.61409211
64MP0004134_abnormal_chest_morphology0.54197387
65MP0000003_abnormal_adipose_tissue0.52459763
66MP0003806_abnormal_nucleotide_metabolis0.51625376
67MP0003045_fibrosis0.46681266
68MP0002734_abnormal_mechanical_nocicepti0.46137158
69MP0008438_abnormal_cutaneous_collagen0.43792611
70MP0004043_abnormal_pH_regulation0.42157507
71MP0005334_abnormal_fat_pad0.41973246
72MP0003705_abnormal_hypodermis_morpholog0.40050960
73MP0004142_abnormal_muscle_tone0.39881320
74MP0002114_abnormal_axial_skeleton0.39267730
75MP0002796_impaired_skin_barrier0.38710168
76MP0002078_abnormal_glucose_homeostasis0.38623848
77MP0003948_abnormal_gas_homeostasis0.37333177
78MP0001299_abnormal_eye_distance/0.36099207
79MP0005452_abnormal_adipose_tissue0.33853549
80MP0005165_increased_susceptibility_to0.33530364
81MP0006276_abnormal_autonomic_nervous0.33284209
82MP0002128_abnormal_blood_circulation0.30989075
83MP0005166_decreased_susceptibility_to0.30447809
84MP0002896_abnormal_bone_mineralization0.30059940
85MP0001346_abnormal_lacrimal_gland0.29890124
86MP0000230_abnormal_systemic_arterial0.29859776
87MP0009115_abnormal_fat_cell0.29425875
88MP0000383_abnormal_hair_follicle0.29295625
89MP0005376_homeostasis/metabolism_phenot0.29217403
90MP0005167_abnormal_blood-brain_barrier0.29004587
91MP0005319_abnormal_enzyme/_coenzyme0.28951110
92MP0001879_abnormal_lymphatic_vessel0.28468426
93MP0003385_abnormal_body_wall0.28285988
94MP0005187_abnormal_penis_morphology0.27821334
95MP0005584_abnormal_enzyme/coenzyme_acti0.27272586
96MP0005535_abnormal_body_temperature0.26743863
97MP0000767_abnormal_smooth_muscle0.26654069
98MP0002638_abnormal_pupillary_reflex0.25591000
99MP0001853_heart_inflammation0.24575553
100MP0005423_abnormal_somatic_nervous0.24493921
101MP0001542_abnormal_bone_strength0.24366514
102MP0003656_abnormal_erythrocyte_physiolo0.23601431
103MP0003755_abnormal_palate_morphology0.22981168
104MP0000678_abnormal_parathyroid_gland0.22763376
105MP0002249_abnormal_larynx_morphology0.22232166
106MP0010030_abnormal_orbit_morphology0.21595135
107MP0008569_lethality_at_weaning0.20875600
108MP0002060_abnormal_skin_morphology0.20845426
109MP0005501_abnormal_skin_physiology0.20766148
110MP0005083_abnormal_biliary_tract0.20621810
111MP0004272_abnormal_basement_membrane0.20311176
112MP0000534_abnormal_ureter_morphology0.20299860
113MP0009672_abnormal_birth_weight0.19774146
114MP0001243_abnormal_dermal_layer0.19700626
115MP0003279_aneurysm0.19428185
116MP0004858_abnormal_nervous_system0.19037509
117MP0003195_calcinosis0.18304755
118MP0002066_abnormal_motor_capabilities/c0.18006498
119MP0003566_abnormal_cell_adhesion0.17826972
120MP0001943_abnormal_respiration0.17734246
121MP0004197_abnormal_fetal_growth/weight/0.17254047
122MP0001784_abnormal_fluid_regulation0.16063557
123MP0002877_abnormal_melanocyte_morpholog0.15653072

Predicted human phenotypes

RankGene SetZ-score
1Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)9.85364644
2Nemaline bodies (HP:0003798)9.40476306
3Type 1 muscle fiber predominance (HP:0003803)7.83179958
4Exercise-induced myalgia (HP:0003738)7.57401551
5Distal arthrogryposis (HP:0005684)7.53367339
6Exercise-induced muscle cramps (HP:0003710)6.78104987
7Muscle hypertrophy of the lower extremities (HP:0008968)6.39384803
8Myopathic facies (HP:0002058)6.20122489
9Calf muscle hypertrophy (HP:0008981)6.11008662
10Round ear (HP:0100830)5.81791241
11Ulnar deviation of the wrist (HP:0003049)5.67233067
12Muscle fiber splitting (HP:0003555)5.58247912
13Calcaneovalgus deformity (HP:0001848)5.14863400
14Difficulty running (HP:0009046)4.82751217
15Hyporeflexia of lower limbs (HP:0002600)4.81710080
16Deformed tarsal bones (HP:0008119)4.72751597
17EMG: myopathic abnormalities (HP:0003458)4.66583296
18Abnormality of the calf musculature (HP:0001430)4.57756763
19Absent phalangeal crease (HP:0006109)4.53605737
20Myoglobinuria (HP:0002913)4.48031573
21Increased connective tissue (HP:0009025)4.30143345
22Malignant hyperthermia (HP:0002047)3.91250960
23Abnormality of skeletal muscle fiber size (HP:0012084)3.86364386
24Neck muscle weakness (HP:0000467)3.85129173
25Muscle stiffness (HP:0003552)3.80658059
26Rhabdomyolysis (HP:0003201)3.78878449
27Abnormal finger flexion creases (HP:0006143)3.78285623
28Abnormality of the left ventricular outflow tract (HP:0011103)3.74523858
29Subaortic stenosis (HP:0001682)3.74523858
30Myotonia (HP:0002486)3.56186822
31Sudden death (HP:0001699)3.49399143
32Difficulty climbing stairs (HP:0003551)3.38788690
33Rimmed vacuoles (HP:0003805)3.37490688
34Increased variability in muscle fiber diameter (HP:0003557)3.29367457
35Areflexia of lower limbs (HP:0002522)3.21535747
36Frequent falls (HP:0002359)3.21373697
37Abnormality of the neuromuscular junction (HP:0003398)3.18787765
38Fatigable weakness (HP:0003473)3.18787765
39Abnormality of the calcaneus (HP:0008364)3.02731063
40Distal lower limb muscle weakness (HP:0009053)2.97987762
41Bulbar palsy (HP:0001283)2.88550804
42Weak cry (HP:0001612)2.83140571
43Asymmetric septal hypertrophy (HP:0001670)2.76034051
44Mildly elevated creatine phosphokinase (HP:0008180)2.74543769
45Slender build (HP:0001533)2.74161157
46Generalized muscle weakness (HP:0003324)2.69153219
47Ventricular tachycardia (HP:0004756)2.65774525
48Gowers sign (HP:0003391)2.60558552
49Pelvic girdle muscle weakness (HP:0003749)2.55857208
50Shoulder girdle muscle weakness (HP:0003547)2.54186690
51Abnormality of the musculature of the pelvis (HP:0001469)2.49120013
52Abnormality of the hip-girdle musculature (HP:0001445)2.49120013
53Type 2 muscle fiber atrophy (HP:0003554)2.47999206
54EMG: neuropathic changes (HP:0003445)2.46760103
55Centrally nucleated skeletal muscle fibers (HP:0003687)2.45362071
56Spinal rigidity (HP:0003306)2.42168085
57Progressive muscle weakness (HP:0003323)2.36484494
58Distal lower limb amyotrophy (HP:0008944)2.35315869
59Facial diplegia (HP:0001349)2.35074325
60Hyperkalemia (HP:0002153)2.34152033
61Hip contracture (HP:0003273)2.25952483
62Scapular winging (HP:0003691)2.22551041
63Muscular dystrophy (HP:0003560)2.22422024
64Popliteal pterygium (HP:0009756)2.19185056
65Muscle fiber atrophy (HP:0100295)2.18833510
66Lipoatrophy (HP:0100578)2.18685783
67Proximal amyotrophy (HP:0007126)2.14187753
68Dilated cardiomyopathy (HP:0001644)2.11602398
69Abnormality of the shoulder girdle musculature (HP:0001435)2.05521680
70Hypoplastic ischia (HP:0003175)2.05477905
71Nonprogressive disorder (HP:0003680)2.04632974
72Right ventricular cardiomyopathy (HP:0011663)2.03125253
73Muscle fiber inclusion bodies (HP:0100299)10.2020362
74Metatarsus adductus (HP:0001840)1.97526501
75Paralysis (HP:0003470)1.96378720
76Limb-girdle muscle weakness (HP:0003325)1.96218892
77Bundle branch block (HP:0011710)1.95160982
78Limb-girdle muscle atrophy (HP:0003797)1.92140256
79Waddling gait (HP:0002515)1.83773752
80Abnormality of the foot musculature (HP:0001436)1.83597798
81Abnormality of placental membranes (HP:0011409)1.83329775
82Amniotic constriction ring (HP:0009775)1.83329775
83Respiratory insufficiency due to muscle weakness (HP:0002747)1.81891383
84Easy fatigability (HP:0003388)1.79220893
85Long clavicles (HP:0000890)1.77871012
86Abnormality of the ischium (HP:0003174)1.77064982
87Ulnar deviation of finger (HP:0009465)1.75273997
88Trismus (HP:0000211)1.73751435
89* Fetal akinesia sequence (HP:0001989)1.73037877
90Foot dorsiflexor weakness (HP:0009027)1.71864512
91Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.70520793
92Atrial fibrillation (HP:0005110)1.70485825
93Lower limb amyotrophy (HP:0007210)1.69207776
94Aplasia of the musculature (HP:0100854)1.67679040
95Ventricular arrhythmia (HP:0004308)1.60578947
96Ulnar deviation of the hand or of fingers of the hand (HP:0001193)1.60302348
97Limited hip movement (HP:0008800)1.57792292
98Heart block (HP:0012722)1.56780199
99Primary atrial arrhythmia (HP:0001692)1.55659600
100Exercise intolerance (HP:0003546)1.55277790
101Akinesia (HP:0002304)1.54608346
102Abnormal atrioventricular conduction (HP:0005150)1.52871959
103Testicular atrophy (HP:0000029)1.52356982
104Palpitations (HP:0001962)1.51444976
105Thin ribs (HP:0000883)1.51107107
106Tarsal synostosis (HP:0008368)1.50739135
107Adducted thumb (HP:0001181)1.50583086
108Steppage gait (HP:0003376)1.39547682
109Oligomenorrhea (HP:0000876)1.39281930
110Pterygium (HP:0001059)1.39173587
111Symphalangism affecting the phalanges of the hand (HP:0009773)1.38355687

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN9.58367215
2TTN5.81143496
3PHKG14.36883167
4PHKG24.36883167
5PIK3CG4.26747335
6ZAK3.43163703
7NME13.28505698
8MUSK2.56813058
9MAP2K32.29047702
10PINK12.21928143
11PDK42.13501160
12PDK32.13501160
13NEK11.83395720
14DMPK1.71670309
15IRAK31.70968699
16MAP3K71.58817439
17PIK3CA1.57108008
18MAPK121.41849491
19PDK21.41735926
20EEF2K1.41050793
21TRIB31.37830151
22BCKDK1.36442053
23STK241.25280877
24MAP2K61.14807294
25TIE11.06666695
26TRPM70.98970239
27MAPKAPK30.87658563
28MAP3K30.86425106
29STK38L0.83257801
30NEK90.82882771
31MAP2K40.81844697
32AKT20.78570025
33TAOK20.78373068
34PKN20.76345760
35ERBB30.68123992
36PRKAA10.67124249
37CAMK2G0.60638293
38PRKAA20.60418666
39INSRR0.57767371
40MAP3K130.57472735
41DYRK1B0.57193718
42PKN10.56869274
43MAPK110.54299275
44IRAK40.53374756
45MAP3K100.51382067
46ILK0.49831343
47MOS0.46890005
48PLK40.45705332
49KSR20.44894984
50MYLK0.44079802
51MAP3K50.42578439
52LATS10.39611570
53CAMK10.39405488
54CAMK2B0.38523734
55TTK0.37942221
56ROCK10.36628434
57MAPK70.36259106
58CAMK2D0.36080979
59PRPF4B0.36061506
60ICK0.35154540
61LATS20.35148204
62MARK10.30944365
63RPS6KB10.30325208
64RPS6KB20.29913936
65EPHB10.29822632
66MAPK130.28661536
67MAP3K110.27673189
68PRKG10.27658150
69MARK20.27225781
70SGK10.26055840
71PRKACB0.25376117
72EPHA20.24321059
73IRAK10.23238512
74GRK70.21982048
75PIM20.21688646
76MAPK40.21310456
77LIMK10.21287415
78PRKACA0.21006582
79DDR20.20834263
80MAP3K10.20579398
81CCNB10.18266018
82TSSK60.18131579
83PRKD10.17989758
84TBK10.17638784
85RIPK10.17232070
86NLK0.17096205
87STK380.16582601
88MAP2K10.15243715
89SGK30.15161387
90IRAK20.14909065
91FGFR30.14715619
92CDK190.14621791
93STK110.14163841
94MTOR0.14143395
95ARAF0.12172701
96AKT30.11888110
97CAMK2A0.11835952
98PDK10.11336810
99RPS6KA30.11057769
100SGK2230.10908304
101SGK4940.10908304
102SGK20.10277026
103FLT30.09368094
104RAF10.08829276
105DAPK20.08471844
106SIK10.08079907
107ROCK20.07539596
108MAP3K60.07475234
109LMTK20.07464769
110PTK2B0.07313154
111TGFBR20.06853739
112FGFR40.06175494
113ZAP700.05908170
114NME20.05244412
115MAPK80.04584101
116KSR10.03933089
117EPHA30.03582286
118RPS6KA20.03539969
119EIF2AK20.02778258
120CAMK40.02776989
121STK30.02446486
122RPS6KA60.02395974
123PRKG20.02315548
124PTK60.02209221
125RPS6KA10.02201532
126CDC42BPA0.01866659
127MAPKAPK20.00151860
128TYK2-0.0267030
129PRKACG-0.0256334
130TAOK1-0.0176620
131PDPK1-0.0127256
132RPS6KL1-0.0079119
133RPS6KC1-0.0079119
134MAPK10-0.0046345
135JAK1-0.0011862

Predicted pathways (KEGG)

RankGene SetZ-score
1Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054105.02159955
2Citrate cycle (TCA cycle)_Homo sapiens_hsa000204.92177525
3Cardiac muscle contraction_Homo sapiens_hsa042604.41918323
4Dilated cardiomyopathy_Homo sapiens_hsa054144.33416669
5Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054124.15790913
62-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.42940558
7Starch and sucrose metabolism_Homo sapiens_hsa005002.71036383
8Propanoate metabolism_Homo sapiens_hsa006402.58426124
9Parkinsons disease_Homo sapiens_hsa050122.52865065
10Oxidative phosphorylation_Homo sapiens_hsa001902.38441297
11Carbon metabolism_Homo sapiens_hsa012002.13284650
12Alzheimers disease_Homo sapiens_hsa050102.11384281
13Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.95036290
14Viral myocarditis_Homo sapiens_hsa054161.84308245
15Insulin signaling pathway_Homo sapiens_hsa049101.81387552
16Glucagon signaling pathway_Homo sapiens_hsa049221.77487831
17Circadian rhythm_Homo sapiens_hsa047101.75376805
18Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.69478485
19Fatty acid degradation_Homo sapiens_hsa000711.67190978
20Galactose metabolism_Homo sapiens_hsa000521.66857852
21Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.66581127
22Insulin resistance_Homo sapiens_hsa049311.60787666
23Oxytocin signaling pathway_Homo sapiens_hsa049211.60275011
24Huntingtons disease_Homo sapiens_hsa050161.55068788
25Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.51832360
26Tight junction_Homo sapiens_hsa045301.48501702
27Arginine biosynthesis_Homo sapiens_hsa002201.47587459
28Calcium signaling pathway_Homo sapiens_hsa040201.44257497
29Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.41404200
30Fructose and mannose metabolism_Homo sapiens_hsa000511.37655831
31Adipocytokine signaling pathway_Homo sapiens_hsa049201.25430312
32AMPK signaling pathway_Homo sapiens_hsa041521.14727604
33Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.14694225
34Arginine and proline metabolism_Homo sapiens_hsa003301.13570614
35Nitrogen metabolism_Homo sapiens_hsa009101.13568279
36Fatty acid metabolism_Homo sapiens_hsa012121.05499342
37Biosynthesis of amino acids_Homo sapiens_hsa012301.02312029
38Pyruvate metabolism_Homo sapiens_hsa006201.01987288
39cGMP-PKG signaling pathway_Homo sapiens_hsa040221.01388915
40Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.99632021
41Focal adhesion_Homo sapiens_hsa045100.99290447
42Vascular smooth muscle contraction_Homo sapiens_hsa042700.90782341
43HIF-1 signaling pathway_Homo sapiens_hsa040660.88124888
44Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.85952691
45Long-term potentiation_Homo sapiens_hsa047200.82777269
46FoxO signaling pathway_Homo sapiens_hsa040680.82774128
47beta-Alanine metabolism_Homo sapiens_hsa004100.81513163
48Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.77456571
49Pentose phosphate pathway_Homo sapiens_hsa000300.72524103
50Salivary secretion_Homo sapiens_hsa049700.69102735
51Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.68397030
52Circadian entrainment_Homo sapiens_hsa047130.68271691
53Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.67304405
54Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.65952981
55Longevity regulating pathway - mammal_Homo sapiens_hsa042110.64773355
56Aldosterone synthesis and secretion_Homo sapiens_hsa049250.59590898
57Proteasome_Homo sapiens_hsa030500.54897618
58Fatty acid elongation_Homo sapiens_hsa000620.54400688
59Purine metabolism_Homo sapiens_hsa002300.50810868
60Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.50567896
61Arachidonic acid metabolism_Homo sapiens_hsa005900.49850683
62Adherens junction_Homo sapiens_hsa045200.47653166
63Central carbon metabolism in cancer_Homo sapiens_hsa052300.47295419
64Long-term depression_Homo sapiens_hsa047300.47147913
65Protein digestion and absorption_Homo sapiens_hsa049740.45508491
66Gastric acid secretion_Homo sapiens_hsa049710.44761815
67Glioma_Homo sapiens_hsa052140.44333768
68alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.44173862
69Leukocyte transendothelial migration_Homo sapiens_hsa046700.43975003
70MAPK signaling pathway_Homo sapiens_hsa040100.42484859
71Linoleic acid metabolism_Homo sapiens_hsa005910.41946365
72Regulation of autophagy_Homo sapiens_hsa041400.41634097
73GnRH signaling pathway_Homo sapiens_hsa049120.41319286
74Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.40165946
75Regulation of actin cytoskeleton_Homo sapiens_hsa048100.39818560
76Phototransduction_Homo sapiens_hsa047440.39710903
77cAMP signaling pathway_Homo sapiens_hsa040240.38968939
78Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.38420608
79Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.38333844
80Phenylalanine metabolism_Homo sapiens_hsa003600.36592590
81Lysine degradation_Homo sapiens_hsa003100.35204120
82Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.35059671
83Cholinergic synapse_Homo sapiens_hsa047250.34269516
84ECM-receptor interaction_Homo sapiens_hsa045120.33370472
85Amoebiasis_Homo sapiens_hsa051460.32548142
86PPAR signaling pathway_Homo sapiens_hsa033200.31689973
87Proteoglycans in cancer_Homo sapiens_hsa052050.31625210
88Amphetamine addiction_Homo sapiens_hsa050310.31368418
89Pancreatic secretion_Homo sapiens_hsa049720.29152511
90Melanogenesis_Homo sapiens_hsa049160.28946815
91Metabolic pathways_Homo sapiens_hsa011000.28862456
92Carbohydrate digestion and absorption_Homo sapiens_hsa049730.28158934
93Vitamin B6 metabolism_Homo sapiens_hsa007500.27959773
94Insulin secretion_Homo sapiens_hsa049110.27583292
95Tryptophan metabolism_Homo sapiens_hsa003800.24241840
96Neurotrophin signaling pathway_Homo sapiens_hsa047220.24103706
97Platelet activation_Homo sapiens_hsa046110.22400754
98Bile secretion_Homo sapiens_hsa049760.20060500
99Olfactory transduction_Homo sapiens_hsa047400.17158707
100Renin secretion_Homo sapiens_hsa049240.16902964
101Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.16616462
102mTOR signaling pathway_Homo sapiens_hsa041500.16171228
103RNA degradation_Homo sapiens_hsa030180.16056061
104Basal cell carcinoma_Homo sapiens_hsa052170.14632007
105Peroxisome_Homo sapiens_hsa041460.14461243
106Endometrial cancer_Homo sapiens_hsa052130.14104210
107Renal cell carcinoma_Homo sapiens_hsa052110.13904061
108Toxoplasmosis_Homo sapiens_hsa051450.13584621
109Fatty acid biosynthesis_Homo sapiens_hsa000610.13324445
110p53 signaling pathway_Homo sapiens_hsa041150.11931985
111Legionellosis_Homo sapiens_hsa051340.11603651
112VEGF signaling pathway_Homo sapiens_hsa043700.09207079
113Toll-like receptor signaling pathway_Homo sapiens_hsa046200.08894461
114Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.08056274
115Glycerophospholipid metabolism_Homo sapiens_hsa005640.07825408
116Leishmaniasis_Homo sapiens_hsa051400.07221183
117Butanoate metabolism_Homo sapiens_hsa006500.06996250
118Type II diabetes mellitus_Homo sapiens_hsa049300.06821099
119Ovarian steroidogenesis_Homo sapiens_hsa049130.06798031
120AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.04310441
121Jak-STAT signaling pathway_Homo sapiens_hsa046300.03694462
122Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.02601518
123HTLV-I infection_Homo sapiens_hsa051660.01810772
124Tyrosine metabolism_Homo sapiens_hsa003500.00652946
125Thyroid hormone signaling pathway_Homo sapiens_hsa049190.00481745
126Epstein-Barr virus infection_Homo sapiens_hsa05169-0.0269424
127Salmonella infection_Homo sapiens_hsa05132-0.0258683
128Acute myeloid leukemia_Homo sapiens_hsa05221-0.0061144
129Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550-0.0053464

Most similar genes based on co-expression Upload to Enrichr

Tissue Expression Export image »

Cell Line Expression Export image »