FHL1

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 member of the four-and-a-half-LIM-only protein family. Family members contain two highly conserved, tandemly arranged, zinc finger domains with four highly conserved cysteines binding a zinc atom in each zinc finger. Expression of these family members occurs in a cell- and tissue-specific mode and these proteins are involved in many cellular processes. Mutations in this gene have been found in patients with Emery-Dreifuss muscular dystrophy. Multiple alternately spliced transcript variants which encode different protein isoforms have been described. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1muscle filament sliding (GO:0030049)8.26252707
2actin-myosin filament sliding (GO:0033275)8.26252707
3plasma membrane repair (GO:0001778)7.19436753
4actin-mediated cell contraction (GO:0070252)7.00499747
5regulation of skeletal muscle contraction (GO:0014819)6.85791072
6skeletal muscle contraction (GO:0003009)5.45494237
7actin filament-based movement (GO:0030048)5.43465878
8sarcoplasmic reticulum calcium ion transport (GO:0070296)5.37602464
9response to muscle activity (GO:0014850)5.33240666
10sarcomere organization (GO:0045214)5.17406536
11NADH metabolic process (GO:0006734)4.76332421
12positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)4.49105327
13regulation of sequestering of triglyceride (GO:0010889)4.40796343
14myofibril assembly (GO:0030239)4.38133829
15negative regulation of potassium ion transmembrane transporter activity (GO:1901017)4.23929397
16cardiac muscle hypertrophy (GO:0003300)4.23753889
17actomyosin structure organization (GO:0031032)4.19749286
18striated muscle contraction (GO:0006941)4.15210983
19skeletal muscle fiber development (GO:0048741)4.10324656
20striated muscle hypertrophy (GO:0014897)4.07791477
21muscle contraction (GO:0006936)3.96051641
22cardiac myofibril assembly (GO:0055003)3.94670811
23skeletal muscle adaptation (GO:0043501)3.89179876
24regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)3.88311188
25regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)3.83501009
26glucan catabolic process (GO:0009251)3.83055183
27negative regulation of potassium ion transmembrane transport (GO:1901380)3.70127116
28muscle hypertrophy (GO:0014896)3.67864836
29myotube cell development (GO:0014904)3.61398037
30cellular polysaccharide catabolic process (GO:0044247)3.57699194
31regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.55888494
32muscle system process (GO:0003012)3.52093709
33regulation of relaxation of muscle (GO:1901077)3.49842822
34cardiac muscle tissue morphogenesis (GO:0055008)3.48991963
35extracellular fibril organization (GO:0043206)3.48581748
36regulation of cell communication by electrical coupling (GO:0010649)3.44986568
37cellular response to epinephrine stimulus (GO:0071872)3.38651367
38heart contraction (GO:0060047)3.36834078
39heart process (GO:0003015)3.36834078
40negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.36103501
41negative regulation of calcium ion transmembrane transport (GO:1903170)3.36103501
42adult heart development (GO:0007512)3.34952611
43cardiac muscle contraction (GO:0060048)3.33165705
44response to epinephrine (GO:0071871)3.30100499
45regulation of the force of heart contraction (GO:0002026)3.28553131
462-oxoglutarate metabolic process (GO:0006103)3.26763108
47muscle fiber development (GO:0048747)3.24121630
48polysaccharide catabolic process (GO:0000272)3.20146051
49membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.17509325
50sequestering of extracellular ligand from receptor (GO:0035581)3.16234682
51cardiac muscle cell development (GO:0055013)3.12640762
52tricarboxylic acid cycle (GO:0006099)3.08496091
53carnitine shuttle (GO:0006853)3.06883919
54glycogen metabolic process (GO:0005977)3.06193107
55extracellular matrix assembly (GO:0085029)3.05156759
56pyrimidine ribonucleoside catabolic process (GO:0046133)3.03255355
57cardiac muscle adaptation (GO:0014887)3.01929481
58cardiac muscle hypertrophy in response to stress (GO:0014898)3.01929481
59muscle hypertrophy in response to stress (GO:0003299)3.01929481
60negative regulation of protein localization to cell surface (GO:2000009)3.00525903
61glucan metabolic process (GO:0044042)2.99174061
62cellular glucan metabolic process (GO:0006073)2.99174061
63cardiac cell development (GO:0055006)2.98816052
64chondrocyte proliferation (GO:0035988)2.98761573
65regulation of membrane repolarization (GO:0060306)2.98258866
66relaxation of muscle (GO:0090075)2.98185980
67regulation of tight junction assembly (GO:2000810)2.92332727
68skeletal muscle tissue regeneration (GO:0043403)2.91908993
69gluconeogenesis (GO:0006094)2.91697065
70regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO2.90947623
71striated muscle atrophy (GO:0014891)2.90674015
72creatine metabolic process (GO:0006600)2.89555775
73response to activity (GO:0014823)2.88348712
74cytidine metabolic process (GO:0046087)2.88066833
75cytidine catabolic process (GO:0006216)2.88066833
76cytidine deamination (GO:0009972)2.88066833
77cGMP-mediated signaling (GO:0019934)2.87582482
78muscle cell cellular homeostasis (GO:0046716)2.84080417
79striated muscle cell development (GO:0055002)2.83150110
80regulation of striated muscle contraction (GO:0006942)2.81890340
81positive regulation of mitochondrial calcium ion concentration (GO:0051561)2.81269066
82epithelial cell-cell adhesion (GO:0090136)2.81181741
83positive regulation of cation channel activity (GO:2001259)2.81136392
84triglyceride catabolic process (GO:0019433)2.80233188
85striated muscle tissue development (GO:0014706)2.80097942
86lipid particle organization (GO:0034389)2.79951296
87fibril organization (GO:0097435)2.79944016
88regulation of calcineurin-NFAT signaling cascade (GO:0070884)2.74813593
89myoblast fusion (GO:0007520)2.74793182
90negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)2.74353663
91response to stimulus involved in regulation of muscle adaptation (GO:0014874)2.69938300
92* muscle organ development (GO:0007517)2.67413577
93negative regulation of heart growth (GO:0061117)2.66333841
94negative regulation of cardiac muscle tissue growth (GO:0055022)2.66333841
95regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)2.65546587
96* muscle structure development (GO:0061061)2.64582592
97actin filament depolymerization (GO:0030042)2.62316468
98skeletal muscle tissue development (GO:0007519)2.62132966
99regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)2.61737653
100neuromuscular junction development (GO:0007528)2.61510182
101fatty acid transmembrane transport (GO:1902001)2.58484689
102regulation of p38MAPK cascade (GO:1900744)2.58465348
103collagen fibril organization (GO:0030199)2.57701178
104regulation of calcium ion transmembrane transport (GO:1903169)2.57274402
105regulation of calcium ion transmembrane transporter activity (GO:1901019)2.57274402
106regulation of muscle system process (GO:0090257)2.56925334
107regulation of muscle contraction (GO:0006937)2.56082706
108muscle cell fate commitment (GO:0042693)2.56080143
109endocardial cushion development (GO:0003197)2.55248534
110striated muscle adaptation (GO:0014888)2.54887424
111regulation of actin filament-based movement (GO:1903115)2.52770529
112muscle tissue morphogenesis (GO:0060415)2.51683453
113ventricular cardiac muscle cell action potential (GO:0086005)2.50898323
114axon extension involved in axon guidance (GO:0048846)2.50642440
115neuron projection extension involved in neuron projection guidance (GO:1902284)2.50642440
116negative regulation of muscle hypertrophy (GO:0014741)2.50396119
117desmosome organization (GO:0002934)2.49677851
118negative regulation of catenin import into nucleus (GO:0035414)2.49488279
119regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.48327772
120syncytium formation (GO:0006949)2.47773435
121wound healing, spreading of epidermal cells (GO:0035313)2.47705825
122regulation of skeletal muscle cell differentiation (GO:2001014)2.45748054
123muscle cell development (GO:0055001)2.45323580
124glycogen biosynthetic process (GO:0005978)2.45082768
125glucan biosynthetic process (GO:0009250)2.45082768
126glycogen catabolic process (GO:0005980)2.44899977
127cell-substrate junction assembly (GO:0007044)2.44673140
128stress fiber assembly (GO:0043149)2.44472865
129regulation of myoblast differentiation (GO:0045661)2.43553589
130positive regulation of myotube differentiation (GO:0010831)2.43380577
131response to inactivity (GO:0014854)2.42542892
132regulation of acyl-CoA biosynthetic process (GO:0050812)2.41745924
133positive regulation of calcium ion transmembrane transporter activity (GO:1901021)2.41441874
134lung vasculature development (GO:0060426)2.40663755
135positive regulation of myoblast differentiation (GO:0045663)2.38561353

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human3.86443511
2RARG_19884340_ChIP-ChIP_MEFs_Mouse3.24534044
3PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.89205877
4TP63_17297297_ChIP-ChIP_HaCaT_Human2.82654241
5EP300_21415370_ChIP-Seq_HL-1_Mouse2.60387569
6CDX2_19796622_ChIP-Seq_MESCs_Mouse2.32429854
7CLOCK_20551151_ChIP-Seq_293T_Human2.27360222
8SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.17931915
9ESR1_20079471_ChIP-ChIP_T-47D_Human2.16425200
10EZH2_22144423_ChIP-Seq_EOC_Human2.16198875
11RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.10436458
12RNF2_18974828_ChIP-Seq_MESCs_Mouse2.03829245
13EZH2_18974828_ChIP-Seq_MESCs_Mouse2.03829245
14SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.97382982
15ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.97375757
16SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.89285517
17* CJUN_26792858_Chip-Seq_BT549_Human1.82651189
18ESR2_21235772_ChIP-Seq_MCF-7_Human1.79735588
19THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.79518748
20EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.78358326
21ESR1_21235772_ChIP-Seq_MCF-7_Human1.75896450
22EED_16625203_ChIP-ChIP_MESCs_Mouse1.72256172
23SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.71346341
24MTF2_20144788_ChIP-Seq_MESCs_Mouse1.71091172
25* PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.70834090
26PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.70638607
27TBX20_22080862_ChIP-Seq_HEART_Mouse1.70347283
28TBX20_22328084_ChIP-Seq_HEART_Mouse1.70347283
29JARID2_20075857_ChIP-Seq_MESCs_Mouse1.70096647
30TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.68082040
31EZH2_27304074_Chip-Seq_ESCs_Mouse1.61365773
32SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.60512371
33WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.59147477
34TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.58573986
35SMAD_19615063_ChIP-ChIP_OVARY_Human1.56748604
36EZH2_27294783_Chip-Seq_ESCs_Mouse1.50221681
37ZNF274_21170338_ChIP-Seq_K562_Hela1.49237823
38MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.47455480
39SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.46201717
40DROSHA_22980978_ChIP-Seq_HELA_Human1.46140808
41AR_21572438_ChIP-Seq_LNCaP_Human1.45908716
42CBX2_27304074_Chip-Seq_ESCs_Mouse1.45177939
43NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.44919215
44NRF2_20460467_ChIP-Seq_MEFs_Mouse1.44919215
45JARID2_20064375_ChIP-Seq_MESCs_Mouse1.43810572
46RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.41421596
47TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.41213696
48MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.40521705
49* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.38575941
50TP53_20018659_ChIP-ChIP_R1E_Mouse1.38069089
51NFIB_24661679_ChIP-Seq_LUNG_Mouse1.37284970
52SUZ12_27294783_Chip-Seq_ESCs_Mouse1.31382135
53ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.30581927
54WT1_19549856_ChIP-ChIP_CCG9911_Human1.28901377
55TP53_18474530_ChIP-ChIP_U2OS_Human1.28143281
56PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.27207458
57RNF2_27304074_Chip-Seq_ESCs_Mouse1.26848544
58* PPAR_26484153_Chip-Seq_NCI-H1993_Human1.26474027
59BCAT_22108803_ChIP-Seq_LS180_Human1.24036296
60FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.23151480
61ZNF217_24962896_ChIP-Seq_MCF-7_Human1.21432958
62GBX2_23144817_ChIP-Seq_PC3_Human1.21084227
63PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.20228244
64GATA4_21415370_ChIP-Seq_HL-1_Mouse1.19886485
65NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.18976704
66ZFP281_18757296_ChIP-ChIP_E14_Mouse1.18651806
67NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.17943443
68HIF1A_21447827_ChIP-Seq_MCF-7_Human1.17578312
69TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.14266843
70PIAS1_25552417_ChIP-Seq_VCAP_Human1.11007554
71STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.10322141
72SMC3_22415368_ChIP-Seq_MEFs_Mouse1.10149098
73NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.09329704
74DNAJC2_21179169_ChIP-ChIP_NT2_Human1.06704229
75STAT6_21828071_ChIP-Seq_BEAS2B_Human1.06247227
76IGF1R_20145208_ChIP-Seq_DFB_Human1.05161774
77SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.05113377
78ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.04341747
79GATA2_21666600_ChIP-Seq_HMVEC_Human1.04103345
80WT1_25993318_ChIP-Seq_PODOCYTE_Human1.03455651
81CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.02659392
82* SOX2_20726797_ChIP-Seq_SW620_Human1.01947856
83ISL1_27105846_Chip-Seq_CPCs_Mouse1.01583204
84ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.01039025
85NR3C1_23031785_ChIP-Seq_PC12_Mouse1.00639591
86BP1_19119308_ChIP-ChIP_Hs578T_Human1.00580820
87SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.00504948
88RXR_22108803_ChIP-Seq_LS180_Human1.00193409
89RBPJ_22232070_ChIP-Seq_NCS_Mouse0.99431051
90RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.99342330
91CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse0.99288300
92AHR_22903824_ChIP-Seq_MCF-7_Human0.98892859
93CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.97735404
94TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.96330294
95ARNT_22903824_ChIP-Seq_MCF-7_Human0.95774510
96SOX9_24532713_ChIP-Seq_HFSC_Mouse0.95741492
97RING1B_27294783_Chip-Seq_ESCs_Mouse0.95722131
98JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.95089508
99SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.95077725
100SMC1_22415368_ChIP-Seq_MEFs_Mouse0.94683714
101RARB_27405468_Chip-Seq_BRAIN_Mouse0.93792520
102CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.93004458
103BRD4_25478319_ChIP-Seq_HGPS_Human0.92106836
104JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.91702006
105PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.91650250
106TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.91187660
107ZNF263_19887448_ChIP-Seq_K562_Human0.90770265
108ERG_21242973_ChIP-ChIP_JURKAT_Human0.89799115
109TP53_23651856_ChIP-Seq_MEFs_Mouse0.89549295
110RAD21_21589869_ChIP-Seq_MESCs_Mouse0.88345053
111P63_26484246_Chip-Seq_KERATINOCYTES_Human0.87646337
112CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.87639002
113SMAD4_21741376_ChIP-Seq_HESCs_Human0.87341840
114SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.86679408
115SA1_22415368_ChIP-Seq_MEFs_Mouse0.86648925
116CTCF_27219007_Chip-Seq_Bcells_Human0.86441783
117P300_27058665_Chip-Seq_ZR-75-30cells_Human0.85798765
118SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.85795875
119SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.85795875
120EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.85716082
121HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.85194161
122SOX2_21211035_ChIP-Seq_LN229_Gbm0.85086130
123PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.84563373
124LXR_22158963_ChIP-Seq_LIVER_Mouse0.83600741
125LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.82524397
126GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.81875769
127* SMAD4_21799915_ChIP-Seq_A2780_Human0.80997540
128RXR_22158963_ChIP-Seq_LIVER_Mouse0.78310136
129* YAP1_20516196_ChIP-Seq_MESCs_Mouse0.78287394

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000751_myopathy4.67263626
2MP0000749_muscle_degeneration4.63286772
3MP0004145_abnormal_muscle_electrophysio3.95185862
4MP0008438_abnormal_cutaneous_collagen3.69257926
5MP0002837_dystrophic_cardiac_calcinosis3.59092424
6MP0005275_abnormal_skin_tensile3.37011425
7MP0004036_abnormal_muscle_relaxation3.06234974
8MP0003646_muscle_fatigue2.98694767
9MP0000747_muscle_weakness2.98565260
10MP0004084_abnormal_cardiac_muscle2.71243185
11MP0004087_abnormal_muscle_fiber2.67413814
12MP0005620_abnormal_muscle_contractility2.63477222
13MP0000750_abnormal_muscle_regeneration2.60377158
14MP0002106_abnormal_muscle_physiology2.57183852
15MP0000759_abnormal_skeletal_muscle2.48332727
16MP0000013_abnormal_adipose_tissue2.48039116
17MP0001958_emphysema2.31259726
18MP0005369_muscle_phenotype2.30139827
19MP0005330_cardiomyopathy2.27378452
20MP0003705_abnormal_hypodermis_morpholog2.16742970
21MP0002269_muscular_atrophy2.15017839
22MP0005503_abnormal_tendon_morphology2.06937628
23MP0004130_abnormal_muscle_cell2.01140538
24MP0004272_abnormal_basement_membrane1.98434806
25MP0003279_aneurysm1.88316930
26MP0004215_abnormal_myocardial_fiber1.87960222
27MP0002108_abnormal_muscle_morphology1.87256318
28MP0002972_abnormal_cardiac_muscle1.86386694
29MP0000733_abnormal_muscle_development1.83429288
30MP0003950_abnormal_plasma_membrane1.81308864
31MP0004233_abnormal_muscle_weight1.73888286
32MP0005623_abnormal_meninges_morphology1.71350565
33MP0004510_myositis1.59415827
34MP0005451_abnormal_body_composition1.57588186
35MP0006138_congestive_heart_failure1.54872124
36MP0002332_abnormal_exercise_endurance1.51761558
37MP0003566_abnormal_cell_adhesion1.50348497
38MP0001879_abnormal_lymphatic_vessel1.49038251
39MP0008775_abnormal_heart_ventricle1.43346681
40MP0010368_abnormal_lymphatic_system1.42583554
41MP0009384_cardiac_valve_regurgitation1.34064978
42MP0010630_abnormal_cardiac_muscle1.33075408
43MP0003137_abnormal_impulse_conducting1.30498635
44* MP0001544_abnormal_cardiovascular_syste1.27202968
45* MP0005385_cardiovascular_system_phenoty1.27202968
46MP0008004_abnormal_stomach_pH1.26754148
47MP0009250_abnormal_appendicular_skeleto1.26042235
48* MP0004484_altered_response_of1.24350668
49MP0000003_abnormal_adipose_tissue1.21046128
50MP0001661_extended_life_span1.20136603
51MP0001299_abnormal_eye_distance/1.17712545
52MP0010030_abnormal_orbit_morphology1.13636586
53MP0005375_adipose_tissue_phenotype1.11086357
54MP0004270_analgesia1.09461022
55MP0009780_abnormal_chondrocyte_physiolo1.08875031
56MP0003385_abnormal_body_wall1.08854116
57MP0005666_abnormal_adipose_tissue1.08663778
58MP0005266_abnormal_metabolism1.08287799
59MP0003045_fibrosis1.04226031
60MP0002234_abnormal_pharynx_morphology1.00792821
61MP0000534_abnormal_ureter_morphology1.00535119
62MP0004085_abnormal_heartbeat0.97776217
63MP0004185_abnormal_adipocyte_glucose0.95585784
64MP0004858_abnormal_nervous_system0.94045456
65MP0002295_abnormal_pulmonary_circulatio0.92838747
66MP0000762_abnormal_tongue_morphology0.90507069
67MP0005670_abnormal_white_adipose0.90263319
68MP0000516_abnormal_urinary_system0.89301241
69MP0005367_renal/urinary_system_phenotyp0.89301241
70MP0005508_abnormal_skeleton_morphology0.87567863
71MP0002127_abnormal_cardiovascular_syste0.86641863
72MP0005595_abnormal_vascular_smooth0.83459252
73MP0002896_abnormal_bone_mineralization0.81680623
74MP0000767_abnormal_smooth_muscle0.81637516
75MP0000537_abnormal_urethra_morphology0.80455899
76MP0002971_abnormal_brown_adipose0.78251700
77MP0003221_abnormal_cardiomyocyte_apopto0.77723601
78MP0004134_abnormal_chest_morphology0.77649724
79MP0002638_abnormal_pupillary_reflex0.76236941
80MP0009115_abnormal_fat_cell0.76029040
81MP0003115_abnormal_respiratory_system0.74198641
82MP0002876_abnormal_thyroid_physiology0.74046446
83MP0010386_abnormal_urinary_bladder0.73113448
84MP0000266_abnormal_heart_morphology0.72934856
85MP0000230_abnormal_systemic_arterial0.72569178
86MP0003091_abnormal_cell_migration0.72527608
87MP0005535_abnormal_body_temperature0.71903651
88MP0003879_abnormal_hair_cell0.71776045
89MP0003959_abnormal_lean_body0.71713080
90MP0006276_abnormal_autonomic_nervous0.71646678
91MP0002128_abnormal_blood_circulation0.70217474
92MP0002133_abnormal_respiratory_system0.70166450
93MP0005388_respiratory_system_phenotype0.70166450
94MP0002060_abnormal_skin_morphology0.70166228
95MP0003828_pulmonary_edema0.69880609
96MP0003283_abnormal_digestive_organ0.68925130
97MP0000343_altered_response_to0.68696226
98MP0002796_impaired_skin_barrier0.67384058
99MP0006054_spinal_hemorrhage0.67296454
100MP0002249_abnormal_larynx_morphology0.67066533
101MP0005334_abnormal_fat_pad0.65675393
102MP0002282_abnormal_trachea_morphology0.64781373
103MP0008961_abnormal_basal_metabolism0.63925887
104MP0005167_abnormal_blood-brain_barrier0.63238503
105MP0003942_abnormal_urinary_system0.61780125
106MP0003941_abnormal_skin_development0.61340471
107MP0002168_other_aberrant_phenotype0.61131217
108MP0001177_atelectasis0.59841654
109MP0004859_abnormal_synaptic_plasticity0.59179237
110MP0006036_abnormal_mitochondrial_physio0.58961564
111MP0002909_abnormal_adrenal_gland0.57283718
112MP0005165_increased_susceptibility_to0.56564610
113MP0002089_abnormal_postnatal_growth/wei0.56560312
114MP0005452_abnormal_adipose_tissue0.56131062
115MP0002078_abnormal_glucose_homeostasis0.54850508
116MP0002822_catalepsy0.52782883
117MP0003948_abnormal_gas_homeostasis0.52296246
118MP0001542_abnormal_bone_strength0.50761099
119MP0008569_lethality_at_weaning0.46895014
120MP0005187_abnormal_penis_morphology0.43466963
121MP0001984_abnormal_olfaction0.43417187
122MP0002970_abnormal_white_adipose0.43171552
123MP0005584_abnormal_enzyme/coenzyme_acti0.41189486
124MP0002114_abnormal_axial_skeleton0.38678240
125MP0005448_abnormal_energy_balance0.37537112

Predicted human phenotypes

RankGene SetZ-score
1Muscle fiber inclusion bodies (HP:0100299)8.54752724
2Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)8.21648705
3Nemaline bodies (HP:0003798)7.94151235
4Type 1 muscle fiber predominance (HP:0003803)7.74704879
5Distal arthrogryposis (HP:0005684)6.23114156
6Exercise-induced myalgia (HP:0003738)6.08930316
7Round ear (HP:0100830)5.27821080
8Exercise-induced muscle cramps (HP:0003710)5.25709448
9Muscle fiber splitting (HP:0003555)5.12503329
10Myopathic facies (HP:0002058)4.97541384
11Hyporeflexia of lower limbs (HP:0002600)4.81754192
12Muscle hypertrophy of the lower extremities (HP:0008968)4.54511114
13Increased connective tissue (HP:0009025)4.54192968
14Calf muscle hypertrophy (HP:0008981)4.48032446
15Ulnar deviation of the wrist (HP:0003049)4.31040955
16EMG: myopathic abnormalities (HP:0003458)4.11792462
17Abnormality of the calf musculature (HP:0001430)4.10234401
18Calcaneovalgus deformity (HP:0001848)3.96062407
19Difficulty running (HP:0009046)3.94754147
20Deformed tarsal bones (HP:0008119)3.64799339
21Neck muscle weakness (HP:0000467)3.63221808
22Bundle branch block (HP:0011710)3.54261321
23Myoglobinuria (HP:0002913)3.53948170
24Myotonia (HP:0002486)3.52178002
25* Abnormality of skeletal muscle fiber size (HP:0012084)3.51417187
26Absent phalangeal crease (HP:0006109)3.48529913
27Muscle stiffness (HP:0003552)3.25531202
28Sudden death (HP:0001699)3.22824712
29* Increased variability in muscle fiber diameter (HP:0003557)3.22133778
30Mildly elevated creatine phosphokinase (HP:0008180)3.19327729
31Aortic aneurysm (HP:0004942)3.07554055
32Difficulty climbing stairs (HP:0003551)3.00412493
33Right ventricular cardiomyopathy (HP:0011663)2.85163585
34Abnormal finger flexion creases (HP:0006143)2.83338021
35* Spinal rigidity (HP:0003306)2.81316011
36Facial diplegia (HP:0001349)2.76169622
37Slender build (HP:0001533)2.74752741
38Abnormality of the calcaneus (HP:0008364)2.72544570
39Distal lower limb muscle weakness (HP:0009053)2.70661768
40Aortic dissection (HP:0002647)2.67008948
41Protrusio acetabuli (HP:0003179)2.66679465
42Subaortic stenosis (HP:0001682)2.65936601
43Abnormality of the left ventricular outflow tract (HP:0011103)2.65936601
44* Scapular winging (HP:0003691)2.63216656
45Premature rupture of membranes (HP:0001788)2.61501739
46Rhabdomyolysis (HP:0003201)2.59807923
47Cerebral aneurysm (HP:0004944)2.50075254
48Oligomenorrhea (HP:0000876)2.43962200
49Hip contracture (HP:0003273)2.43174051
50Heart block (HP:0012722)2.37450141
51Centrally nucleated skeletal muscle fibers (HP:0003687)2.36964887
52Asymmetric septal hypertrophy (HP:0001670)2.36077138
53Generalized muscle weakness (HP:0003324)2.33530636
54Ventricular tachycardia (HP:0004756)2.33346837
55Broad metatarsal (HP:0001783)2.32208027
56Gowers sign (HP:0003391)2.30170497
57Abnormal atrioventricular conduction (HP:0005150)2.29566660
58Weak cry (HP:0001612)2.29291819
59Lipoatrophy (HP:0100578)2.26767845
60Muscular dystrophy (HP:0003560)2.26731777
61Limb-girdle muscle atrophy (HP:0003797)2.26699079
62Areflexia of lower limbs (HP:0002522)2.25746529
63Shoulder girdle muscle weakness (HP:0003547)2.16064037
64Distal lower limb amyotrophy (HP:0008944)2.15271895
65* Frequent falls (HP:0002359)2.14291182
66Malignant hyperthermia (HP:0002047)2.13235917
67Bulbar palsy (HP:0001283)2.12036108
68Proximal amyotrophy (HP:0007126)2.07910349
69EMG: neuropathic changes (HP:0003445)2.06256583
70* Abnormality of the foot musculature (HP:0001436)2.02393042
71Fetal akinesia sequence (HP:0001989)2.02296439
72Atrial fibrillation (HP:0005110)2.01949865
73* Abnormality of the shoulder girdle musculature (HP:0001435)2.01556946
74Abnormality of the musculature of the pelvis (HP:0001469)2.01250187
75Abnormality of the hip-girdle musculature (HP:0001445)2.01250187
76Limb-girdle muscle weakness (HP:0003325)2.00039471
77Tarsal synostosis (HP:0008368)1.98573245
78* Rimmed vacuoles (HP:0003805)1.98456412
79Pelvic girdle muscle weakness (HP:0003749)1.96444768
80Bell-shaped thorax (HP:0001591)1.94312911
81Wrist flexion contracture (HP:0001239)1.92136039
82Primary atrial arrhythmia (HP:0001692)1.90730870
83* Respiratory insufficiency due to muscle weakness (HP:0002747)1.87414986
84Hyperkalemia (HP:0002153)1.86729193
85Lower limb amyotrophy (HP:0007210)1.86284684
86* Foot dorsiflexor weakness (HP:0009027)1.85906975
87Fatigable weakness (HP:0003473)1.81220867
88Abnormality of the neuromuscular junction (HP:0003398)1.81220867
89Prolonged QT interval (HP:0001657)1.80734404
90Atrioventricular block (HP:0001678)1.80520358
91Limited hip movement (HP:0008800)1.80084490
92Supraventricular arrhythmia (HP:0005115)1.79239459
93Synostosis involving bones of the lower limbs (HP:0009138)1.79033163
94Synostosis involving bones of the feet (HP:0009140)1.79033163
95Supraventricular tachycardia (HP:0004755)1.78352265
96Vascular tortuosity (HP:0004948)1.77238581
97Ulnar deviation of finger (HP:0009465)1.77039999
98Shallow orbits (HP:0000586)1.76711068
99* Dilated cardiomyopathy (HP:0001644)1.75243940
100Ankle contracture (HP:0006466)1.74398400
101* Waddling gait (HP:0002515)1.73592332
102Ventricular arrhythmia (HP:0004308)1.70575773
103Neoplasm of the heart (HP:0100544)1.67670441
104Atrophic scars (HP:0001075)1.67602955
105Metatarsus adductus (HP:0001840)1.67399707
106Dilatation of the ascending aorta (HP:0005111)1.66333590
107Ragged-red muscle fibers (HP:0003200)1.66269635
108Mesomelia (HP:0003027)1.64273011
109Infantile muscular hypotonia (HP:0008947)1.61754123
110Progressive muscle weakness (HP:0003323)1.60289396
111Achilles tendon contracture (HP:0001771)1.59961621
112Long clavicles (HP:0000890)1.59721977
113Syncope (HP:0001279)1.57881600
114Nonprogressive disorder (HP:0003680)1.55958066
115Congenital hip dislocation (HP:0001374)1.55497870
116Stridor (HP:0010307)1.54138300
117Insulin-resistant diabetes mellitus (HP:0000831)1.52607995
118Exercise intolerance (HP:0003546)1.49386527
119Increased muscle lipid content (HP:0009058)1.46804527

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN7.16196270
2TTN5.69609113
3PHKG13.43367247
4PHKG23.43367247
5PIK3CG3.43285298
6MYLK2.91808302
7DMPK2.62965987
8TRIB32.47620833
9LIMK12.21925981
10LATS22.05554970
11NME11.81761950
12PIK3CA1.79195622
13PDK31.74966245
14PDK41.74966245
15NEK11.67387078
16TIE11.50602330
17DDR21.43572350
18EPHB21.33175495
19MAPKAPK31.32210643
20ROCK11.31101031
21TESK11.28253202
22ERBB31.28197390
23PTK2B1.27552015
24MAP2K31.27041143
25LMTK21.26814875
26PDGFRA1.22252635
27PDK21.21701909
28RIPK11.21567917
29FER1.17450657
30PINK11.16587941
31ILK1.16521841
32MUSK1.09673213
33PAK31.08741923
34MAP3K71.07079707
35EEF2K1.05413108
36PAK21.00846219
37MAPK120.98637473
38CAMK10.95115578
39LATS10.94417241
40TRPM70.92773695
41EPHA30.92093816
42TGFBR20.90557511
43STK38L0.89641197
44MAP3K30.89420011
45PKN20.86329623
46ZAK0.85529459
47MINK10.81279319
48MAP2K40.81011809
49MAPK40.80927545
50ROCK20.76217606
51CDC42BPA0.74011439
52CCNB10.73739374
53MAPK70.73677919
54MAP2K10.72388199
55MAP3K60.68949161
56PTK20.68827171
57DYRK1B0.67281659
58CAMK2G0.65915304
59ARAF0.65690888
60CAMK2B0.63648576
61SIK10.62449848
62PAK60.62143294
63PRKD10.60852377
64MARK10.59596549
65CAMK40.58890700
66MET0.57638694
67LRRK20.54447357
68TAOK10.52826993
69ERBB40.52786406
70STK240.51182418
71KSR20.50393916
72MAP3K130.50354145
73SGK20.49890752
74SGK30.48949152
75PRKD30.48668294
76PTK60.47898726
77AKT20.47868173
78BCKDK0.47841916
79MOS0.47698529
80STK380.46692679
81MARK20.45936867
82NTRK10.45476958
83RET0.45397085
84CAMK2D0.45270468
85BMX0.44344460
86SGK2230.43784223
87SGK4940.43784223
88NEK90.43651015
89PRKAA10.43560610
90ICK0.41668950
91FGFR10.41219191
92PRKCH0.41002560
93DAPK30.40114143
94PRKACA0.39779260
95PRKG10.39376955
96RPS6KA20.38009555
97RPS6KA30.36149815
98PRKACG0.35241580
99DAPK20.35112701
100PRKAA20.34894339
101PRKACB0.34737900
102EPHB10.33191691
103CAMK2A0.32688288
104MAP3K90.32335710
105KSR10.32257499
106GRK50.32236987
107MAP2K60.31912426
108PLK20.30910094
109PDPK10.30635423
110ABL20.30558038
111PDGFRB0.30542729
112PRKCE0.30400861
113CDK50.28376953
114PAK40.28189463
115TAOK20.25951718
116PKN10.25703399
117MAPK110.25546572
118MAPK100.24938554
119PRKG20.24662824
120MTOR0.24659074
121CDK140.24637308
122MAP3K50.24526283
123MAPK130.24052106
124ADRBK10.23526407
125BCR0.22703203
126FGFR20.22483097
127WNK10.21860016
128MAP3K10.21608723
129MAP3K110.20910778
130GSK3A0.20711027
131SGK10.20138682
132RPS6KC10.18977396
133RPS6KL10.18977396
134UHMK10.18921572
135GRK70.17540996
136AKT30.15881987

Predicted pathways (KEGG)

RankGene SetZ-score
1Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054103.79747522
2Dilated cardiomyopathy_Homo sapiens_hsa054143.59940214
3Citrate cycle (TCA cycle)_Homo sapiens_hsa000203.38222411
4Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054123.32034954
5Cardiac muscle contraction_Homo sapiens_hsa042602.86170399
6Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.13919440
72-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.07268559
8Focal adhesion_Homo sapiens_hsa045102.04129328
9ECM-receptor interaction_Homo sapiens_hsa045121.84579612
10Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.82937351
11Tight junction_Homo sapiens_hsa045301.73194436
12Vascular smooth muscle contraction_Homo sapiens_hsa042701.69661549
13Oxytocin signaling pathway_Homo sapiens_hsa049211.65350728
14Phenylalanine metabolism_Homo sapiens_hsa003601.60513415
15Arginine and proline metabolism_Homo sapiens_hsa003301.55585522
16Gastric acid secretion_Homo sapiens_hsa049711.51243128
17Propanoate metabolism_Homo sapiens_hsa006401.42447635
18cGMP-PKG signaling pathway_Homo sapiens_hsa040221.36384172
19Proteoglycans in cancer_Homo sapiens_hsa052051.26063831
20Arginine biosynthesis_Homo sapiens_hsa002201.25780015
21Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.25187417
22Insulin signaling pathway_Homo sapiens_hsa049101.24119017
23Viral myocarditis_Homo sapiens_hsa054161.23786960
24Renin secretion_Homo sapiens_hsa049241.22772412
25Adherens junction_Homo sapiens_hsa045201.21187177
26Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.17659514
27Calcium signaling pathway_Homo sapiens_hsa040201.16494019
28Glucagon signaling pathway_Homo sapiens_hsa049221.15596178
29Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.14194995
30Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.13812762
31Parkinsons disease_Homo sapiens_hsa050121.13471584
32Pentose phosphate pathway_Homo sapiens_hsa000301.12014193
33Hippo signaling pathway_Homo sapiens_hsa043901.10973655
34Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.10724871
35Amoebiasis_Homo sapiens_hsa051461.09141597
36beta-Alanine metabolism_Homo sapiens_hsa004101.08267664
37Regulation of actin cytoskeleton_Homo sapiens_hsa048101.05822533
38Insulin resistance_Homo sapiens_hsa049311.04611019
39Carbon metabolism_Homo sapiens_hsa012001.03147745
40GnRH signaling pathway_Homo sapiens_hsa049121.03109559
41Alzheimers disease_Homo sapiens_hsa050101.01928523
42Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.01675881
43Fatty acid elongation_Homo sapiens_hsa000621.00274966
44Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.98330246
45Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.97782487
46Circadian entrainment_Homo sapiens_hsa047130.97386751
47Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.97062482
48Gap junction_Homo sapiens_hsa045400.95934277
49Fatty acid metabolism_Homo sapiens_hsa012120.93278578
50AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.93244596
51Starch and sucrose metabolism_Homo sapiens_hsa005000.91151385
52Oxidative phosphorylation_Homo sapiens_hsa001900.90861107
53Salivary secretion_Homo sapiens_hsa049700.90724116
54Fatty acid degradation_Homo sapiens_hsa000710.90603475
55Protein digestion and absorption_Homo sapiens_hsa049740.89337499
56Axon guidance_Homo sapiens_hsa043600.88397133
57AMPK signaling pathway_Homo sapiens_hsa041520.87919192
58Insulin secretion_Homo sapiens_hsa049110.87363788
59TGF-beta signaling pathway_Homo sapiens_hsa043500.86184369
60Fructose and mannose metabolism_Homo sapiens_hsa000510.83342555
61Circadian rhythm_Homo sapiens_hsa047100.82730373
62Basal cell carcinoma_Homo sapiens_hsa052170.81940775
63Adipocytokine signaling pathway_Homo sapiens_hsa049200.81926895
64Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.81557222
65Melanogenesis_Homo sapiens_hsa049160.79230140
66Leukocyte transendothelial migration_Homo sapiens_hsa046700.78756197
67Pyruvate metabolism_Homo sapiens_hsa006200.78152020
68Biosynthesis of amino acids_Homo sapiens_hsa012300.77754834
69Tyrosine metabolism_Homo sapiens_hsa003500.76339239
70Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.75727328
71Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.75030842
72Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.72712287
73Aldosterone synthesis and secretion_Homo sapiens_hsa049250.71571127
74GABAergic synapse_Homo sapiens_hsa047270.71302543
75Platelet activation_Homo sapiens_hsa046110.69776291
76PPAR signaling pathway_Homo sapiens_hsa033200.69092053
77Cholinergic synapse_Homo sapiens_hsa047250.68778042
78Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.68068431
79Bladder cancer_Homo sapiens_hsa052190.68014092
80Rap1 signaling pathway_Homo sapiens_hsa040150.67867270
81Histidine metabolism_Homo sapiens_hsa003400.67866868
82Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.67772246
83cAMP signaling pathway_Homo sapiens_hsa040240.67404238
84Central carbon metabolism in cancer_Homo sapiens_hsa052300.65935310
85Hedgehog signaling pathway_Homo sapiens_hsa043400.65756821
86Tryptophan metabolism_Homo sapiens_hsa003800.65551867
87Thyroid hormone synthesis_Homo sapiens_hsa049180.65453731
88Olfactory transduction_Homo sapiens_hsa047400.64925856
89HIF-1 signaling pathway_Homo sapiens_hsa040660.64769602
90Amphetamine addiction_Homo sapiens_hsa050310.63605043
91Huntingtons disease_Homo sapiens_hsa050160.62655047
92Long-term depression_Homo sapiens_hsa047300.62483752
93Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.61261333
94Renal cell carcinoma_Homo sapiens_hsa052110.61114965
95MAPK signaling pathway_Homo sapiens_hsa040100.59634110
96PI3K-Akt signaling pathway_Homo sapiens_hsa041510.59507360
97Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.59401769
98Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.58444012
99Glycerolipid metabolism_Homo sapiens_hsa005610.56648914
100VEGF signaling pathway_Homo sapiens_hsa043700.56576346
101Longevity regulating pathway - mammal_Homo sapiens_hsa042110.55442224
102Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.54173921
103Dopaminergic synapse_Homo sapiens_hsa047280.53539384
104Butanoate metabolism_Homo sapiens_hsa006500.52963652
105Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.52053753
106Nitrogen metabolism_Homo sapiens_hsa009100.51667472
107Thyroid hormone signaling pathway_Homo sapiens_hsa049190.50377486
108Long-term potentiation_Homo sapiens_hsa047200.48635147
109Estrogen signaling pathway_Homo sapiens_hsa049150.47764432
110Fatty acid biosynthesis_Homo sapiens_hsa000610.47620739
111Glioma_Homo sapiens_hsa052140.47380953
112Mineral absorption_Homo sapiens_hsa049780.45967081
113Melanoma_Homo sapiens_hsa052180.44473109
114Ovarian steroidogenesis_Homo sapiens_hsa049130.43830996
115Galactose metabolism_Homo sapiens_hsa000520.43753919
116Synaptic vesicle cycle_Homo sapiens_hsa047210.43585295
117Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.43369075
118Wnt signaling pathway_Homo sapiens_hsa043100.41932130
119Serotonergic synapse_Homo sapiens_hsa047260.41727365
120FoxO signaling pathway_Homo sapiens_hsa040680.41510020
121Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.39608170
122Ras signaling pathway_Homo sapiens_hsa040140.39561364
123Morphine addiction_Homo sapiens_hsa050320.39447411
124Sulfur relay system_Homo sapiens_hsa041220.38406405
125Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.36545660
126Peroxisome_Homo sapiens_hsa041460.32650342
127Pancreatic secretion_Homo sapiens_hsa049720.30980416
128Lysine degradation_Homo sapiens_hsa003100.30438460
129Cocaine addiction_Homo sapiens_hsa050300.30324251
130Phospholipase D signaling pathway_Homo sapiens_hsa040720.29822213
131Glutamatergic synapse_Homo sapiens_hsa047240.27962996
132Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.26283373

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