KLHL40

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





Description: This gene encodes a protein containing a BACK domain, a BTB/POZ domain, and 5 Kelch repeats, however, its exact function is not known. The gene and the multi-domain protein structure are conserved across different taxa, including primates, rodents, chicken and zebrafish. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1skeletal muscle contraction (GO:0003009)9.87619735
2actin-mediated cell contraction (GO:0070252)9.68897549
3sarcoplasmic reticulum calcium ion transport (GO:0070296)9.23950737
4plasma membrane repair (GO:0001778)7.93386354
5sarcomere organization (GO:0045214)7.36579182
6actin filament-based movement (GO:0030048)7.17101595
7skeletal muscle adaptation (GO:0043501)7.01115518
8positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)6.85680188
9skeletal muscle fiber development (GO:0048741)6.78953713
10striated muscle contraction (GO:0006941)6.65245409
11myofibril assembly (GO:0030239)6.47498430
12negative regulation of potassium ion transmembrane transporter activity (GO:1901017)6.29825824
13response to stimulus involved in regulation of muscle adaptation (GO:0014874)6.14001306
14regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)6.09959904
15myotube cell development (GO:0014904)6.06247034
16regulation of cell communication by electrical coupling (GO:0010649)5.94894225
17regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.83837053
18regulation of relaxation of muscle (GO:1901077)5.27638071
19muscle contraction (GO:0006936)5.27462464
20negative regulation of potassium ion transmembrane transport (GO:1901380)5.22271720
21creatine metabolic process (GO:0006600)5.15907911
22response to inactivity (GO:0014854)5.14682715
23regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)5.08778755
24skeletal muscle tissue regeneration (GO:0043403)4.96143403
25response to muscle activity (GO:0014850)4.95844165
26actomyosin structure organization (GO:0031032)4.94561544
27cardiac myofibril assembly (GO:0055003)4.91805548
28pyrimidine ribonucleoside catabolic process (GO:0046133)4.86626674
29glycogen catabolic process (GO:0005980)4.84330848
30cardiac muscle contraction (GO:0060048)4.83165761
31regulation of acyl-CoA biosynthetic process (GO:0050812)4.80984008
32muscle fiber development (GO:0048747)4.79230785
33cytidine catabolic process (GO:0006216)4.75394955
34cytidine deamination (GO:0009972)4.75394955
35cytidine metabolic process (GO:0046087)4.75394955
36muscle system process (GO:0003012)4.75312783
37carnitine shuttle (GO:0006853)4.68288789
38striated muscle atrophy (GO:0014891)4.66099962
39regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)4.61990323
40striated muscle adaptation (GO:0014888)4.56523927
41glucan catabolic process (GO:0009251)4.51693538
42tricarboxylic acid cycle (GO:0006099)4.38341861
43regulation of coenzyme metabolic process (GO:0051196)4.35914196
44regulation of cofactor metabolic process (GO:0051193)4.35914196
45cellular polysaccharide catabolic process (GO:0044247)4.17861512
46muscle hypertrophy (GO:0014896)4.17003466
47regulation of actin filament-based movement (GO:1903115)4.13066438
48regulation of striated muscle contraction (GO:0006942)4.11182558
49muscle atrophy (GO:0014889)4.09278371
50glycogen biosynthetic process (GO:0005978)4.08569404
51glucan biosynthetic process (GO:0009250)4.08569404
52striated muscle cell development (GO:0055002)4.08396164
53regulation of skeletal muscle cell differentiation (GO:2001014)4.04243941
54muscle organ morphogenesis (GO:0048644)4.01672087
55cardiac muscle cell development (GO:0055013)3.99999369
56muscle cell cellular homeostasis (GO:0046716)3.99626090
57polysaccharide catabolic process (GO:0000272)3.99302376
58response to activity (GO:0014823)3.88455867
59fatty acid transmembrane transport (GO:1902001)3.86028989
60adult heart development (GO:0007512)3.85583118
61regulation of myoblast differentiation (GO:0045661)3.85325198
62muscle organ development (GO:0007517)3.84583535
63cardiac muscle tissue morphogenesis (GO:0055008)3.84508744
64regulation of calcium ion transmembrane transport (GO:1903169)3.84191759
65regulation of calcium ion transmembrane transporter activity (GO:1901019)3.84191759
66neuronal action potential propagation (GO:0019227)3.82096676
67muscle structure development (GO:0061061)3.79650872
68mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.76893088
692-oxoglutarate metabolic process (GO:0006103)3.75440237
70regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.74499847
71regulation of membrane repolarization (GO:0060306)3.73114744
72cardiac cell development (GO:0055006)3.71348503
73muscle adaptation (GO:0043500)3.71336883
74fructose metabolic process (GO:0006000)3.70047657
75positive regulation of myotube differentiation (GO:0010831)3.69925447
76negative regulation of muscle hypertrophy (GO:0014741)3.69473010
77regulation of sarcomere organization (GO:0060297)3.67105536
78regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.66707402
79gluconeogenesis (GO:0006094)3.59362663
80negative regulation of muscle contraction (GO:0045932)3.58202205
81negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.57072347
82negative regulation of protein localization to cell surface (GO:2000009)3.50508148
83positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.48747280
84regulation of sulfur metabolic process (GO:0042762)3.48113476
85muscle cell development (GO:0055001)3.47641953
86muscle cell fate commitment (GO:0042693)3.46345577
87striated muscle tissue development (GO:0014706)3.44765193
88syncytium formation by plasma membrane fusion (GO:0000768)3.42669847
89striated muscle hypertrophy (GO:0014897)3.42069956
90cardiac muscle hypertrophy in response to stress (GO:0014898)3.41249382
91muscle hypertrophy in response to stress (GO:0003299)3.41249382
92cardiac muscle adaptation (GO:0014887)3.41249382
93myoblast fusion (GO:0007520)3.41082311
94regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.39842377
95negative regulation of calcium ion transmembrane transport (GO:1903170)3.39597436
96negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.39597436
97glycogen metabolic process (GO:0005977)3.37621412
98purine nucleotide salvage (GO:0032261)3.36557537
99skeletal muscle tissue development (GO:0007519)3.36543851
100respiratory electron transport chain (GO:0022904)3.35918454
101carnitine transmembrane transport (GO:1902603)3.34287481
102cardiac muscle hypertrophy (GO:0003300)3.33971701
103NADH metabolic process (GO:0006734)3.32966879
104heart process (GO:0003015)3.31998416
105heart contraction (GO:0060047)3.31998416
106myotube differentiation (GO:0014902)3.31873320
107positive regulation of mitochondrial calcium ion concentration (GO:0051561)3.31766469
108glucan metabolic process (GO:0044042)3.30333469
109cellular glucan metabolic process (GO:0006073)3.30333469
110regulation of skeletal muscle fiber development (GO:0048742)3.29990950
111regulation of the force of heart contraction (GO:0002026)3.29369205
112regulation of myotube differentiation (GO:0010830)3.28922317
113electron transport chain (GO:0022900)3.24745724
114regulation of muscle system process (GO:0090257)3.22755964
115negative regulation of potassium ion transport (GO:0043267)3.21349983
116hexose biosynthetic process (GO:0019319)3.20298114
117muscle tissue morphogenesis (GO:0060415)3.20135102
118mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.17357733
119positive regulation of myoblast differentiation (GO:0045663)3.16495507
120IMP metabolic process (GO:0046040)3.16216070
121actin-myosin filament sliding (GO:0033275)11.7746037
122muscle filament sliding (GO:0030049)11.7746037
123regulation of skeletal muscle contraction (GO:0014819)10.1646738

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human5.28047317
2EZH2_22144423_ChIP-Seq_EOC_Human4.66678102
3TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.77832442
4PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.36271572
5ESRRB_18555785_ChIP-Seq_MESCs_Mouse3.12554454
6ESR1_20079471_ChIP-ChIP_T-47D_Human2.96193722
7TBX20_22328084_ChIP-Seq_HEART_Mouse2.30583317
8TBX20_22080862_ChIP-Seq_HEART_Mouse2.30583317
9EP300_21415370_ChIP-Seq_HL-1_Mouse2.30091069
10CDX2_19796622_ChIP-Seq_MESCs_Mouse2.28459022
11TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.28217162
12GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.20518933
13ZNF263_19887448_ChIP-Seq_K562_Human2.11222843
14RARG_19884340_ChIP-ChIP_MEFs_Mouse1.89429022
15ZNF274_21170338_ChIP-Seq_K562_Hela1.87695936
16ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.86952883
17MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.82490444
18EZH2_27304074_Chip-Seq_ESCs_Mouse1.80392439
19SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.80036017
20PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.76859192
21EZH2_27294783_Chip-Seq_ESCs_Mouse1.76741845
22CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.74841202
23EZH2_18974828_ChIP-Seq_MESCs_Mouse1.73575822
24RNF2_18974828_ChIP-Seq_MESCs_Mouse1.73575822
25SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.70916339
26SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.68302799
27AR_21572438_ChIP-Seq_LNCaP_Human1.65532129
28NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.63324435
29PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.59159327
30MTF2_20144788_ChIP-Seq_MESCs_Mouse1.57611185
31JARID2_20064375_ChIP-Seq_MESCs_Mouse1.57373356
32THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.56715957
33RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.54300123
34EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.53893368
35DROSHA_22980978_ChIP-Seq_HELA_Human1.52875116
36NFIB_24661679_ChIP-Seq_LUNG_Mouse1.52632656
37CTCF_27219007_Chip-Seq_Bcells_Human1.51230594
38SUZ12_27294783_Chip-Seq_ESCs_Mouse1.50089706
39ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.46940705
40SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.44919905
41JARID2_20075857_ChIP-Seq_MESCs_Mouse1.44608234
42GBX2_23144817_ChIP-Seq_PC3_Human1.43914443
43BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.42879051
44VDR_22108803_ChIP-Seq_LS180_Human1.40743168
45TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.40410124
46BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.32701362
47RARB_27405468_Chip-Seq_BRAIN_Mouse1.27730838
48SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.27668009
49IGF1R_20145208_ChIP-Seq_DFB_Human1.26482724
50SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.24986114
51RBPJ_22232070_ChIP-Seq_NCS_Mouse1.23760937
52DNAJC2_21179169_ChIP-ChIP_NT2_Human1.23269016
53CBX2_27304074_Chip-Seq_ESCs_Mouse1.19633446
54ESR2_21235772_ChIP-Seq_MCF-7_Human1.14012793
55CTBP1_25329375_ChIP-Seq_LNCAP_Human1.13287964
56FOXH1_21741376_ChIP-Seq_ESCs_Human1.10634573
57TP53_20018659_ChIP-ChIP_R1E_Mouse1.10195492
58GATA4_21415370_ChIP-Seq_HL-1_Mouse1.07263810
59CTCF_21964334_ChIP-Seq_BJAB-B_Human1.06285087
60TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.05873645
61SOX2_21211035_ChIP-Seq_LN229_Gbm1.05287177
62RNF2_27304074_Chip-Seq_ESCs_Mouse1.04889149
63CRX_20693478_ChIP-Seq_RETINA_Mouse1.04740432
64IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.03564999
65CBP_20019798_ChIP-Seq_JUKART_Human1.03564999
66EED_16625203_ChIP-ChIP_MESCs_Mouse1.03055024
67GATA6_21074721_ChIP-Seq_CACO-2_Mouse1.02994198
68OCT4_20526341_ChIP-Seq_ESCs_Human1.02283494
69TDRD3_21172665_ChIP-Seq_MCF-7_Human1.00913118
70SUZ12_27294783_Chip-Seq_NPCs_Mouse1.00680193
71SMC3_22415368_ChIP-Seq_MEFs_Mouse1.00531469
72SUZ12_16625203_ChIP-ChIP_MESCs_Mouse0.99499975
73FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.98853907
74EZH2_27294783_Chip-Seq_NPCs_Mouse0.98140984
75TAF15_26573619_Chip-Seq_HEK293_Human0.97757932
76CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.96997815
77SPI1_20517297_ChIP-Seq_HL60_Human0.96571807
78OCT4_21477851_ChIP-Seq_ESCs_Mouse0.96516376
79ESR1_21235772_ChIP-Seq_MCF-7_Human0.96151691
80STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.95077867
81TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.94511770
82YY1_22570637_ChIP-Seq_MALME-3M_Human0.93980428
83RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.93075506
84CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.92746222
85SMAD_19615063_ChIP-ChIP_OVARY_Human0.91711446
86STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.91547443
87ER_23166858_ChIP-Seq_MCF-7_Human0.90430841
88SA1_27219007_Chip-Seq_Bcells_Human0.88669410
89PPARA_22158963_ChIP-Seq_LIVER_Mouse0.88482506
90TRIM28_21343339_ChIP-Seq_HEK293_Human0.88066071
91ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.87268162
92SMC1_22415368_ChIP-Seq_MEFs_Mouse0.86983218
93CTCF_21964334_Chip-Seq_Bcells_Human0.86414515
94PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.86181260
95PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.85932119
96NR3C1_23031785_ChIP-Seq_PC12_Mouse0.85763247
97RXR_22158963_ChIP-Seq_LIVER_Mouse0.84813765
98P63_26484246_Chip-Seq_KERATINOCYTES_Human0.84324004
99P53_22127205_ChIP-Seq_FIBROBLAST_Human0.84247504
100LXR_22158963_ChIP-Seq_LIVER_Mouse0.84107170
101PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.83625685
102GATA1_19941827_ChIP-Seq_MEL_Mouse0.82283039
103NANOG_20526341_ChIP-Seq_ESCs_Human0.81841801
104PCGF2_27294783_Chip-Seq_ESCs_Mouse0.81671568
105EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.80848211
106NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.80572676
107NRF2_20460467_ChIP-Seq_MEFs_Mouse0.80572676
108CJUN_26792858_Chip-Seq_BT549_Human0.79709631
109SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.78706089
110MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.78595553
111TP53_18474530_ChIP-ChIP_U2OS_Human0.78583389
112CLOCK_20551151_ChIP-Seq_293T_Human0.78140808
113WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.77600082
114NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.77207053
115GATA6_21074721_ChIP-Seq_CACO-2_Human0.77153674
116NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.76565854
117EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.75912214
118CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.75904707
119AUTS2_25519132_ChIP-Seq_293T-REX_Human0.75624177
120TOP2B_26459242_ChIP-Seq_MCF-7_Human0.75607855
121LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.75002803
122GATA1_19941827_ChIP-Seq_MEL86_Mouse0.74799833
123UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.74713786
124SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.74026194
125SMAD4_21799915_ChIP-Seq_A2780_Human0.74014250
126REST_18959480_ChIP-ChIP_MESCs_Mouse0.73762542
127STAT1_20625510_ChIP-Seq_HELA_Human0.73669020
128KLF5_20875108_ChIP-Seq_MESCs_Mouse0.73553123
129AR_25329375_ChIP-Seq_VCAP_Human0.73345728
130SMAD3_21741376_ChIP-Seq_HESCs_Human0.72687114
131CTCF_27219007_Chip-Seq_ERYTHROID_Human0.72612198
132SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.72590655
133MYC_27129775_Chip-Seq_CORNEA_Mouse0.72558764
134GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse0.71523766
135HTT_18923047_ChIP-ChIP_STHdh_Human0.71432822
136LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.71399687
137HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.71167061
138FLI1_27457419_Chip-Seq_LIVER_Mouse0.71125523
139KDM2B_26808549_Chip-Seq_DND41_Human0.70927347
140PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.69876552
141SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.69404057
142MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.67974772

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004145_abnormal_muscle_electrophysio6.37840186
2MP0003646_muscle_fatigue6.30081029
3MP0000749_muscle_degeneration6.16435766
4MP0000751_myopathy6.06448259
5MP0002837_dystrophic_cardiac_calcinosis5.11403416
6MP0004036_abnormal_muscle_relaxation4.04780805
7MP0000747_muscle_weakness3.96626063
8MP0002106_abnormal_muscle_physiology3.85310939
9MP0000759_abnormal_skeletal_muscle3.44281841
10MP0004087_abnormal_muscle_fiber3.39448438
11MP0000750_abnormal_muscle_regeneration3.34091615
12MP0005369_muscle_phenotype3.21579769
13MP0002269_muscular_atrophy3.09170486
14MP0005620_abnormal_muscle_contractility3.02941212
15MP0004084_abnormal_cardiac_muscle2.98098734
16MP0004130_abnormal_muscle_cell2.80826916
17MP0004215_abnormal_myocardial_fiber2.59241574
18MP0005330_cardiomyopathy2.56256404
19MP0004233_abnormal_muscle_weight2.50720122
20MP0000733_abnormal_muscle_development2.04268779
21MP0002332_abnormal_exercise_endurance1.95187790
22MP0002972_abnormal_cardiac_muscle1.92966824
23MP0004484_altered_response_of1.91357680
24MP0006036_abnormal_mitochondrial_physio1.84248441
25MP0002108_abnormal_muscle_morphology1.83523483
26MP0004270_analgesia1.73332142
27MP0003950_abnormal_plasma_membrane1.57036660
28MP0010630_abnormal_cardiac_muscle1.47125503
29MP0003137_abnormal_impulse_conducting1.45286614
30MP0000013_abnormal_adipose_tissue1.33617044
31MP0005385_cardiovascular_system_phenoty1.32113663
32MP0001544_abnormal_cardiovascular_syste1.32113663
33MP0003221_abnormal_cardiomyocyte_apopto1.24822036
34MP0004185_abnormal_adipocyte_glucose1.24242387
35MP0008775_abnormal_heart_ventricle1.14578314
36MP0005666_abnormal_adipose_tissue1.14363089
37MP0002971_abnormal_brown_adipose1.13279970
38MP0001661_extended_life_span1.05833834
39MP0002234_abnormal_pharynx_morphology1.04738308
40MP0006138_congestive_heart_failure1.04228717
41MP0006035_abnormal_mitochondrial_morpho0.95479790
42MP0004085_abnormal_heartbeat0.93213488
43MP0005375_adipose_tissue_phenotype0.89910226
44MP0005266_abnormal_metabolism0.87988500
45MP0005275_abnormal_skin_tensile0.86299646
46MP0002127_abnormal_cardiovascular_syste0.82405195
47MP0000762_abnormal_tongue_morphology0.74222154
48MP0003045_fibrosis0.73590373
49MP0003828_pulmonary_edema0.73372931
50MP0001299_abnormal_eye_distance/0.72642986
51MP0004510_myositis0.66878982
52MP0004134_abnormal_chest_morphology0.66437782
53MP0008569_lethality_at_weaning0.65507068
54MP0009250_abnormal_appendicular_skeleto0.64212596
55MP0004147_increased_porphyrin_level0.62273604
56MP0004859_abnormal_synaptic_plasticity0.60537962
57MP0000003_abnormal_adipose_tissue0.60340007
58MP0000343_altered_response_to0.59316873
59MP0000266_abnormal_heart_morphology0.58968601
60MP0005451_abnormal_body_composition0.55674393
61MP0000372_irregular_coat_pigmentation0.54824724
62MP0002734_abnormal_mechanical_nocicepti0.52886713
63MP0004043_abnormal_pH_regulation0.51867427
64MP0002822_catalepsy0.49869065
65MP0002078_abnormal_glucose_homeostasis0.47789307
66MP0002638_abnormal_pupillary_reflex0.47678536
67MP0005670_abnormal_white_adipose0.45927907
68MP0009672_abnormal_birth_weight0.44993979
69MP0009780_abnormal_chondrocyte_physiolo0.44340610
70MP0000230_abnormal_systemic_arterial0.44094407
71MP0010030_abnormal_orbit_morphology0.43125054
72MP0000579_abnormal_nail_morphology0.42255374
73MP0005452_abnormal_adipose_tissue0.41577571
74MP0005334_abnormal_fat_pad0.40616911
75MP0005165_increased_susceptibility_to0.40427076
76MP0003806_abnormal_nucleotide_metabolis0.39168532
77MP0004142_abnormal_muscle_tone0.38565748
78MP0005167_abnormal_blood-brain_barrier0.37192674
79MP0005376_homeostasis/metabolism_phenot0.37002871
80MP0003705_abnormal_hypodermis_morpholog0.36049860
81MP0003948_abnormal_gas_homeostasis0.33670854
82MP0005166_decreased_susceptibility_to0.32173688
83MP0009046_muscle_twitch0.31932820
84MP0005623_abnormal_meninges_morphology0.31932682
85MP0002066_abnormal_motor_capabilities/c0.31897979
86MP0003656_abnormal_erythrocyte_physiolo0.31509765
87MP0002909_abnormal_adrenal_gland0.31401065
88MP0001440_abnormal_grooming_behavior0.30753103
89MP0003635_abnormal_synaptic_transmissio0.30578304
90MP0005083_abnormal_biliary_tract0.30389372
91MP0003195_calcinosis0.30378416
92MP0008961_abnormal_basal_metabolism0.30346923
93MP0003567_abnormal_fetal_cardiomyocyte0.30293540
94MP0005423_abnormal_somatic_nervous0.30291340
95MP0003385_abnormal_body_wall0.30274299
96MP0002796_impaired_skin_barrier0.30232170
97MP0002896_abnormal_bone_mineralization0.30226218
98MP0001943_abnormal_respiration0.30194257
99MP0002067_abnormal_sensory_capabilities0.30147122
100MP0002114_abnormal_axial_skeleton0.29057862
101MP0003879_abnormal_hair_cell0.26009340
102MP0009745_abnormal_behavioral_response0.25740580
103MP0002128_abnormal_blood_circulation0.25348708
104MP0005535_abnormal_body_temperature0.24695781
105MP0002272_abnormal_nervous_system0.24452711
106MP0001346_abnormal_lacrimal_gland0.23505877
107MP0005319_abnormal_enzyme/_coenzyme0.23443100
108MP0003959_abnormal_lean_body0.23403235
109MP0002249_abnormal_larynx_morphology0.22784046
110MP0006276_abnormal_autonomic_nervous0.22513275
111MP0005171_absent_coat_pigmentation0.22452862
112MP0004197_abnormal_fetal_growth/weight/0.20808377
113MP0005503_abnormal_tendon_morphology0.20097670
114MP0003136_yellow_coat_color0.19530984
115MP0005584_abnormal_enzyme/coenzyme_acti0.19293635
116MP0001270_distended_abdomen0.19053192
117MP0005187_abnormal_penis_morphology0.17449502
118MP0003011_delayed_dark_adaptation0.16524332
119MP0003941_abnormal_skin_development0.16111982
120MP0009115_abnormal_fat_cell0.15954795
121MP0005332_abnormal_amino_acid0.15852080

Predicted human phenotypes

RankGene SetZ-score
1Muscle fiber inclusion bodies (HP:0100299)9.39152100
2Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)9.06621532
3Nemaline bodies (HP:0003798)8.45917155
4Exercise-induced myalgia (HP:0003738)7.85446240
5Type 1 muscle fiber predominance (HP:0003803)7.15982766
6Exercise-induced muscle cramps (HP:0003710)6.98913545
7Distal arthrogryposis (HP:0005684)6.91093098
8Muscle hypertrophy of the lower extremities (HP:0008968)6.77340900
9Calf muscle hypertrophy (HP:0008981)6.41181615
10Myopathic facies (HP:0002058)5.85659324
11Muscle fiber splitting (HP:0003555)5.62151072
12Round ear (HP:0100830)5.59643402
13Ulnar deviation of the wrist (HP:0003049)5.11111657
14Difficulty running (HP:0009046)4.98798338
15Hyporeflexia of lower limbs (HP:0002600)4.91489888
16Abnormality of the calf musculature (HP:0001430)4.89182483
17EMG: myopathic abnormalities (HP:0003458)4.77197103
18Myoglobinuria (HP:0002913)4.56475868
19Calcaneovalgus deformity (HP:0001848)4.42809677
20Increased connective tissue (HP:0009025)4.27621627
21Absent phalangeal crease (HP:0006109)4.19202084
22Deformed tarsal bones (HP:0008119)4.02996328
23Muscle stiffness (HP:0003552)3.95123247
24Myotonia (HP:0002486)3.94294355
25Abnormality of skeletal muscle fiber size (HP:0012084)3.92168682
26Sudden death (HP:0001699)3.85789322
27Rhabdomyolysis (HP:0003201)3.73958850
28Neck muscle weakness (HP:0000467)3.69320077
29Abnormality of the left ventricular outflow tract (HP:0011103)3.57547440
30Subaortic stenosis (HP:0001682)3.57547440
31Difficulty climbing stairs (HP:0003551)3.56203310
32Increased variability in muscle fiber diameter (HP:0003557)3.55664147
33Malignant hyperthermia (HP:0002047)3.52555188
34Abnormal finger flexion creases (HP:0006143)3.46767373
35Rimmed vacuoles (HP:0003805)3.20554216
36Fatigable weakness (HP:0003473)3.06152487
37Abnormality of the neuromuscular junction (HP:0003398)3.06152487
38Areflexia of lower limbs (HP:0002522)2.98932744
39Fetal akinesia sequence (HP:0001989)2.93211011
40Frequent falls (HP:0002359)2.92229961
41Asymmetric septal hypertrophy (HP:0001670)2.81893590
42Mildly elevated creatine phosphokinase (HP:0008180)2.80988897
43Bulbar palsy (HP:0001283)2.74839784
44Distal lower limb muscle weakness (HP:0009053)2.74390821
45Shoulder girdle muscle weakness (HP:0003547)2.68984361
46Ventricular tachycardia (HP:0004756)2.65486830
47Gowers sign (HP:0003391)2.60572539
48Abnormality of the hip-girdle musculature (HP:0001445)2.58099469
49Abnormality of the musculature of the pelvis (HP:0001469)2.58099469
50Pelvic girdle muscle weakness (HP:0003749)2.57462764
51Slender build (HP:0001533)2.56827905
52Weak cry (HP:0001612)2.53935716
53Abnormality of the calcaneus (HP:0008364)2.50274338
54Generalized muscle weakness (HP:0003324)2.47237801
55Distal lower limb amyotrophy (HP:0008944)2.45958775
56EMG: neuropathic changes (HP:0003445)2.43510606
57Muscular dystrophy (HP:0003560)2.36881864
58Nonprogressive disorder (HP:0003680)2.34595554
59Limb-girdle muscle atrophy (HP:0003797)2.30959478
60Centrally nucleated skeletal muscle fibers (HP:0003687)2.27112363
61Spinal rigidity (HP:0003306)2.26439912
62Hypoplastic ischia (HP:0003175)2.25271199
63Lipoatrophy (HP:0100578)2.22318242
64Hyperkalemia (HP:0002153)2.18801460
65Scapular winging (HP:0003691)2.18602630
66Proximal amyotrophy (HP:0007126)2.17144780
67Facial diplegia (HP:0001349)2.14198094
68Limb-girdle muscle weakness (HP:0003325)2.09958426
69Hip contracture (HP:0003273)2.05977275
70Long clavicles (HP:0000890)2.05595418
71Dilated cardiomyopathy (HP:0001644)2.04011325
72Progressive muscle weakness (HP:0003323)2.03778030
73Type 2 muscle fiber atrophy (HP:0003554)2.02204164
74Abnormality of the foot musculature (HP:0001436)2.02169732
75Abnormality of the shoulder girdle musculature (HP:0001435)1.99494685
76Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.97661717
77Respiratory insufficiency due to muscle weakness (HP:0002747)1.95289567
78Abnormality of the ischium (HP:0003174)1.95121819
79Right ventricular cardiomyopathy (HP:0011663)1.92604771
80Acute necrotizing encephalopathy (HP:0006965)1.89291906
81Atrial fibrillation (HP:0005110)1.88759426
82Paralysis (HP:0003470)1.88531686
83Abnormal mitochondria in muscle tissue (HP:0008316)1.88509415
84Waddling gait (HP:0002515)1.85652060
85Lower limb amyotrophy (HP:0007210)1.85284501
86Muscle fiber atrophy (HP:0100295)1.79997265
87Bundle branch block (HP:0011710)1.79123091
88Metatarsus adductus (HP:0001840)1.77830937
89Exercise intolerance (HP:0003546)1.76358836
90Ulnar deviation of finger (HP:0009465)1.75425391
91Primary atrial arrhythmia (HP:0001692)1.75136297
92Heart block (HP:0012722)1.71995739
93Prolonged QT interval (HP:0001657)1.69158579
94Supraventricular tachycardia (HP:0004755)1.68103148
95Limited hip movement (HP:0008800)1.65138385
96Supraventricular arrhythmia (HP:0005115)1.63583176
97Palpitations (HP:0001962)1.63374755
98Abnormal atrioventricular conduction (HP:0005150)1.63283511
99Easy fatigability (HP:0003388)1.63041802
100Ventricular arrhythmia (HP:0004308)1.62511424
101Popliteal pterygium (HP:0009756)1.61766765
102Amniotic constriction ring (HP:0009775)1.60092576
103Abnormality of placental membranes (HP:0011409)1.60092576
104Achilles tendon contracture (HP:0001771)1.57591792
105Progressive macrocephaly (HP:0004481)1.56736971
106Hepatocellular necrosis (HP:0001404)1.55760220
107Ragged-red muscle fibers (HP:0003200)1.55280953
108Foot dorsiflexor weakness (HP:0009027)1.54904239
109Breech presentation (HP:0001623)1.44767239
110Steppage gait (HP:0003376)1.41768111
111Ulnar deviation of the hand or of fingers of the hand (HP:0001193)1.39921918
112Adducted thumb (HP:0001181)1.35244268
113Increased intramyocellular lipid droplets (HP:0012240)1.33197808
114Oligomenorrhea (HP:0000876)1.31920669
115Insulin-resistant diabetes mellitus (HP:0000831)1.27750772

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN8.65646982
2TTN6.09709402
3PHKG25.02452620
4PHKG15.02452620
5NME13.97700548
6PIK3CG3.51159199
7MUSK3.38741145
8PDK32.61034594
9PDK42.61034594
10PINK12.24298833
11NEK12.06981541
12MAP2K31.94122364
13DMPK1.89651900
14MAP3K71.81787044
15MAPK121.66594983
16TRIB31.65889426
17PDK21.62843103
18PIK3CA1.60188125
19MAP2K41.40444887
20BCKDK1.37197733
21EEF2K1.09610900
22MAPKAPK31.02214435
23MAP2K61.01726090
24MARK10.98609912
25CASK0.98501642
26MAP3K110.74163216
27STK240.73443309
28PRKAA20.71756157
29PKN20.68477390
30CAMK2G0.67290368
31MYLK0.67267917
32MAP3K30.66211268
33AKT20.65649636
34PRKAA10.65123682
35DYRK1B0.64037057
36MAP3K130.63425255
37EPHB10.62745656
38TRPM70.60244994
39INSRR0.58681608
40ILK0.58173702
41PKN10.57588494
42MOS0.55071000
43CAMK2D0.54437783
44MAPK110.53405176
45ZAK0.49973142
46TIE10.49822578
47MAP3K120.48842530
48ROCK10.48696110
49CCNB10.45833770
50KSR20.45463051
51LMTK20.44042455
52TAOK20.43212343
53LATS20.43037156
54FER0.42964761
55MAP3K50.42376982
56TNIK0.42177176
57CAMK2A0.40470807
58PRKD10.36030371
59PRKACB0.35806281
60PTK2B0.35650926
61NEK90.35205274
62SGK10.35138601
63PRKACA0.34562304
64ROCK20.34341114
65MARK30.34280102
66PRKG10.33307614
67LIMK10.32736612
68ERBB30.32476202
69SGK20.31390481
70TAOK10.28385617
71CDK190.28012664
72MAP3K10.27231388
73MAP2K10.26443368
74RPS6KB10.26364581
75TBK10.26355607
76MAP3K40.24834359
77PDPK10.24775330
78MAPK70.24395006
79RPS6KA30.23791547
80MAPK40.23755695
81ARAF0.23063498
82MAPK100.21810820
83RPS6KB20.20846829
84MAP3K60.20795407
85MAP3K100.20363384
86LATS10.19837259
87MARK20.19630903
88RIPK10.19272275
89CDK80.18411746
90DAPK20.17922831
91EPHA30.17903353
92PDK10.17263738
93NME20.15684167
94MTOR0.15157774
95CAMK2B0.14547864
96MAPK130.14072256
97GRK50.13843517
98SGK2230.13591915
99SGK4940.13591915
100GRK70.13383339
101CAMK10.13305637
102EPHA40.12904304
103MAP2K70.12828967
104PAK60.12088742
105DAPK30.12081909
106NLK0.11737600
107STK110.10921736
108EPHB20.10886828
109RAF10.10883951
110PRKG20.10389737
111SIK10.09524297
112PRPF4B0.09074593
113PRKACG0.09030646
114RPS6KL10.07373096
115RPS6KC10.07373096
116ZAP700.07308425
117NTRK30.06935417
118TGFBR20.06622540
119FGFR30.06437460
120MAP3K90.06237428
121CAMK40.06012882
122BRAF0.05868476
123PLK20.05493251
124PRKCE0.04788212
125RPS6KA60.04151175
126GSK3B0.03814913
127RPS6KA10.03442049
128MAPK90.03024537
129STK380.02538757
130ADRBK10.02508783
131OXSR10.02329392
132PRKCA0.01901682
133SGK30.01409172
134ICK0.01244721
135STK390.00779374

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000204.64703331
2Cardiac muscle contraction_Homo sapiens_hsa042604.46351823
3Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054104.27926404
4Dilated cardiomyopathy_Homo sapiens_hsa054143.89536885
5Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054123.53254311
62-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.29409791
7Oxidative phosphorylation_Homo sapiens_hsa001903.20399407
8Parkinsons disease_Homo sapiens_hsa050123.04251912
9Alzheimers disease_Homo sapiens_hsa050102.54689765
10Propanoate metabolism_Homo sapiens_hsa006402.21434831
11Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.16693911
12Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.08863822
13Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042612.02617064
14Carbon metabolism_Homo sapiens_hsa012001.96254357
15Oxytocin signaling pathway_Homo sapiens_hsa049211.94375527
16Starch and sucrose metabolism_Homo sapiens_hsa005001.88134779
17Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.77619081
18Glucagon signaling pathway_Homo sapiens_hsa049221.77479636
19Huntingtons disease_Homo sapiens_hsa050161.72285945
20Calcium signaling pathway_Homo sapiens_hsa040201.72109446
21Insulin signaling pathway_Homo sapiens_hsa049101.60187899
22Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.50603802
23Circadian rhythm_Homo sapiens_hsa047101.46936328
24Pyruvate metabolism_Homo sapiens_hsa006201.39760138
25Insulin resistance_Homo sapiens_hsa049311.30778944
26Viral myocarditis_Homo sapiens_hsa054161.28919634
27cGMP-PKG signaling pathway_Homo sapiens_hsa040221.25959034
28Nitrogen metabolism_Homo sapiens_hsa009101.23012734
29Fatty acid degradation_Homo sapiens_hsa000711.20863464
30AMPK signaling pathway_Homo sapiens_hsa041521.13521928
31Tight junction_Homo sapiens_hsa045301.09421331
32Adipocytokine signaling pathway_Homo sapiens_hsa049201.08619087
33Gastric acid secretion_Homo sapiens_hsa049711.05795612
34Vascular smooth muscle contraction_Homo sapiens_hsa042701.04013633
35Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.02761096
36Biosynthesis of amino acids_Homo sapiens_hsa012301.01993760
37Galactose metabolism_Homo sapiens_hsa000521.00132570
38Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.99127986
39Renin secretion_Homo sapiens_hsa049240.95467166
40Fructose and mannose metabolism_Homo sapiens_hsa000510.90614772
41Fatty acid metabolism_Homo sapiens_hsa012120.90541902
42Insulin secretion_Homo sapiens_hsa049110.87977414
43Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.87967184
44GnRH signaling pathway_Homo sapiens_hsa049120.87840904
45Phenylalanine metabolism_Homo sapiens_hsa003600.83728554
46Focal adhesion_Homo sapiens_hsa045100.83253194
47Circadian entrainment_Homo sapiens_hsa047130.76469949
48Olfactory transduction_Homo sapiens_hsa047400.74606705
49Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.73043292
50Arginine and proline metabolism_Homo sapiens_hsa003300.72903289
51HIF-1 signaling pathway_Homo sapiens_hsa040660.72016832
52Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.65425459
53Long-term depression_Homo sapiens_hsa047300.65121241
54Aldosterone synthesis and secretion_Homo sapiens_hsa049250.64566467
55Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.64297551
56Butanoate metabolism_Homo sapiens_hsa006500.64162922
57Longevity regulating pathway - mammal_Homo sapiens_hsa042110.62272228
58MAPK signaling pathway_Homo sapiens_hsa040100.61846728
59Central carbon metabolism in cancer_Homo sapiens_hsa052300.61615970
60Fatty acid elongation_Homo sapiens_hsa000620.59297763
61GABAergic synapse_Homo sapiens_hsa047270.58796442
62Salivary secretion_Homo sapiens_hsa049700.58595125
63Thyroid hormone signaling pathway_Homo sapiens_hsa049190.58276525
64Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.54124220
65Long-term potentiation_Homo sapiens_hsa047200.51063529
66Cholinergic synapse_Homo sapiens_hsa047250.50697340
67Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.47379534
68FoxO signaling pathway_Homo sapiens_hsa040680.47150656
69VEGF signaling pathway_Homo sapiens_hsa043700.44475953
70Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.44358634
71Morphine addiction_Homo sapiens_hsa050320.40650054
72cAMP signaling pathway_Homo sapiens_hsa040240.40557027
73Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.38913146
74Pentose phosphate pathway_Homo sapiens_hsa000300.35666030
75Regulation of actin cytoskeleton_Homo sapiens_hsa048100.34906947
76Collecting duct acid secretion_Homo sapiens_hsa049660.32333607
77Type II diabetes mellitus_Homo sapiens_hsa049300.31605723
78Lysine degradation_Homo sapiens_hsa003100.31477828
79mTOR signaling pathway_Homo sapiens_hsa041500.31150302
80Melanogenesis_Homo sapiens_hsa049160.30937549
81beta-Alanine metabolism_Homo sapiens_hsa004100.30712369
82Serotonergic synapse_Homo sapiens_hsa047260.30645868
83ECM-receptor interaction_Homo sapiens_hsa045120.30280801
84Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.30197975
85Gap junction_Homo sapiens_hsa045400.29839452
86Fatty acid biosynthesis_Homo sapiens_hsa000610.29740095
87Platelet activation_Homo sapiens_hsa046110.29588371
88Nicotine addiction_Homo sapiens_hsa050330.29266162
89Arginine biosynthesis_Homo sapiens_hsa002200.27542334
90Dopaminergic synapse_Homo sapiens_hsa047280.27479043
91Glioma_Homo sapiens_hsa052140.27389230
92Amoebiasis_Homo sapiens_hsa051460.26354540
93Tryptophan metabolism_Homo sapiens_hsa003800.26310178
94Pancreatic secretion_Homo sapiens_hsa049720.24293514
95Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.24269037
96Peroxisome_Homo sapiens_hsa041460.23398343
97Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.23085464
98Proteoglycans in cancer_Homo sapiens_hsa052050.23055532
99Carbohydrate digestion and absorption_Homo sapiens_hsa049730.22931432
100Ovarian steroidogenesis_Homo sapiens_hsa049130.22251844
101Thyroid cancer_Homo sapiens_hsa052160.20528127
102PPAR signaling pathway_Homo sapiens_hsa033200.20500185
103Taste transduction_Homo sapiens_hsa047420.20238261
104Renal cell carcinoma_Homo sapiens_hsa052110.18960713
105Synaptic vesicle cycle_Homo sapiens_hsa047210.18338511
106Amphetamine addiction_Homo sapiens_hsa050310.18004355
107Phototransduction_Homo sapiens_hsa047440.17579121
108Metabolic pathways_Homo sapiens_hsa011000.17276121
109Purine metabolism_Homo sapiens_hsa002300.16460121
110Leukocyte transendothelial migration_Homo sapiens_hsa046700.15371101
111Neurotrophin signaling pathway_Homo sapiens_hsa047220.15139683
112Adherens junction_Homo sapiens_hsa045200.14535972
113Regulation of autophagy_Homo sapiens_hsa041400.14245621
114Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.12916060
115Glutamatergic synapse_Homo sapiens_hsa047240.12859955
116Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.12422453
117Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.12009665
118Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.11837737
119Tyrosine metabolism_Homo sapiens_hsa003500.11557470
120Histidine metabolism_Homo sapiens_hsa003400.11253561

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