ANKRD1

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





Description: The protein encoded by this gene is localized to the nucleus of endothelial cells and is induced by IL-1 and TNF-alpha stimulation. Studies in rat cardiomyocytes suggest that this gene functions as a transcription factor. Interactions between this protein and the sarcomeric proteins myopalladin and titin suggest that it may also be involved in the myofibrillar stretch-sensor system. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1cardiac myofibril assembly (GO:0055003)9.52212913
2* sarcomere organization (GO:0045214)9.33836503
3myofibril assembly (GO:0030239)8.15129114
4muscle filament sliding (GO:0030049)8.07741014
5actin-myosin filament sliding (GO:0033275)8.07741014
6negative regulation of potassium ion transmembrane transporter activity (GO:1901017)7.53978904
7cardiac muscle contraction (GO:0060048)7.19443446
8cardiac muscle cell development (GO:0055013)6.87183300
9actin-mediated cell contraction (GO:0070252)6.82326319
10negative regulation of potassium ion transmembrane transport (GO:1901380)6.70543088
11cardiac cell development (GO:0055006)6.47911121
12* cardiac muscle tissue morphogenesis (GO:0055008)6.32239762
13regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO6.16976805
14ventricular cardiac muscle tissue morphogenesis (GO:0055010)6.16183468
15* actomyosin structure organization (GO:0031032)6.15198530
16cardiac muscle hypertrophy (GO:0003300)6.12914628
17plasma membrane repair (GO:0001778)6.06937597
18positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)6.00819174
19regulation of actin filament-based movement (GO:1903115)5.97318575
20regulation of relaxation of muscle (GO:1901077)5.94409414
21regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)5.83359322
22adult heart development (GO:0007512)5.79099631
23striated muscle hypertrophy (GO:0014897)5.78711435
24tricarboxylic acid cycle (GO:0006099)5.76015223
25* muscle tissue morphogenesis (GO:0060415)5.72013269
26bundle of His cell to Purkinje myocyte communication (GO:0086069)5.64535679
27heart process (GO:0003015)5.63320642
28heart contraction (GO:0060047)5.63320642
29striated muscle contraction (GO:0006941)5.54110139
30regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)5.39253287
31regulation of sarcomere organization (GO:0060297)5.39218359
32ventricular cardiac muscle cell action potential (GO:0086005)5.32155656
33regulation of skeletal muscle contraction (GO:0014819)5.28119293
34negative regulation of cardiac muscle cell apoptotic process (GO:0010667)5.26178377
35heart trabecula formation (GO:0060347)5.19435478
36actin filament-based movement (GO:0030048)5.16841173
37muscle hypertrophy (GO:0014896)5.12358838
38regulation of the force of heart contraction (GO:0002026)5.09828082
39regulation of cardioblast differentiation (GO:0051890)4.99068701
40regulation of striated muscle contraction (GO:0006942)4.88845220
41negative regulation of striated muscle cell apoptotic process (GO:0010664)4.80278864
42regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)4.75747367
43cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.62446728
44mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.55153266
45regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)4.49159490
46regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)4.46817314
47cell communication involved in cardiac conduction (GO:0086065)4.41610921
48regulation of cell communication by electrical coupling (GO:0010649)4.40327825
49carnitine shuttle (GO:0006853)4.27889239
50sarcoplasmic reticulum calcium ion transport (GO:0070296)4.25244038
51ATP synthesis coupled proton transport (GO:0015986)4.23895939
52energy coupled proton transport, down electrochemical gradient (GO:0015985)4.23895939
53ventricular cardiac muscle cell development (GO:0055015)4.21900931
54cardiac muscle adaptation (GO:0014887)4.21107750
55cardiac muscle hypertrophy in response to stress (GO:0014898)4.21107750
56muscle hypertrophy in response to stress (GO:0003299)4.21107750
57regulation of membrane repolarization (GO:0060306)4.11862664
58regulation of ATP catabolic process (GO:1903289)4.11177412
59regulation of ATPase activity (GO:0043462)4.11177412
60negative regulation of protein localization to cell surface (GO:2000009)4.04511105
61atrioventricular valve morphogenesis (GO:0003181)4.03890620
62regulation of acyl-CoA biosynthetic process (GO:0050812)4.02692488
63response to stimulus involved in regulation of muscle adaptation (GO:0014874)4.02535890
64cardiac ventricle formation (GO:0003211)3.99026122
65cell communication by electrical coupling (GO:0010644)3.97875723
66regulation of cardiac muscle contraction (GO:0055117)3.96366411
67striated muscle cell development (GO:0055002)3.94390990
68regulation of cardiac muscle cell contraction (GO:0086004)3.91282254
69oxidative phosphorylation (GO:0006119)3.86776667
70regulation of heart rate (GO:0002027)3.84755810
71regulation of coenzyme metabolic process (GO:0051196)3.84406227
72regulation of cofactor metabolic process (GO:0051193)3.84406227
73regulation of striated muscle cell apoptotic process (GO:0010662)3.74695363
74respiratory electron transport chain (GO:0022904)3.73702478
75cardiac muscle cell action potential involved in contraction (GO:0086002)3.71794700
76mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.71005942
77cardiac muscle cell action potential (GO:0086001)3.69808465
78muscle contraction (GO:0006936)3.66993596
79regulation of heart contraction (GO:0008016)3.66450526
80fatty acid transmembrane transport (GO:1902001)3.64608818
81electron transport chain (GO:0022900)3.62367533
82relaxation of cardiac muscle (GO:0055119)3.61856923
83atrial septum morphogenesis (GO:0060413)3.60038516
84negative regulation of potassium ion transport (GO:0043267)3.58170314
85muscle cell fate commitment (GO:0042693)3.58053496
86cardiac chamber formation (GO:0003207)3.57646639
87cell migration involved in heart development (GO:0060973)3.55280413
88regulation of muscle contraction (GO:0006937)3.49453943
89positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.45996396
90regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.45626370
91muscle cell development (GO:0055001)3.42920452
92muscle system process (GO:0003012)3.42171769
93trabecula formation (GO:0060343)3.41665962
94endocardial cushion development (GO:0003197)3.41505007
95positive regulation of heart contraction (GO:0045823)3.34313126
96lymphangiogenesis (GO:0001946)3.32197352
97response to inactivity (GO:0014854)3.30740504
98wound healing, spreading of epidermal cells (GO:0035313)3.29692291
99cardiac conduction (GO:0061337)3.29122086
100regulation of cardiac muscle cell apoptotic process (GO:0010665)3.27404138
101striated muscle adaptation (GO:0014888)3.23999042
102gap junction assembly (GO:0016264)3.23682584
103membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.23381107
104response to muscle activity (GO:0014850)3.21702721
105regulation of heart rate by cardiac conduction (GO:0086091)3.21224275
106cardiac muscle cell proliferation (GO:0060038)3.20212723
107outflow tract septum morphogenesis (GO:0003148)3.18893397
108cardiac muscle tissue development (GO:0048738)3.18884644
109regulation of tight junction assembly (GO:2000810)3.18852874
110positive regulation of action potential (GO:0045760)3.18253940
111desmosome organization (GO:0002934)3.17435392
112positive regulation of heart rate (GO:0010460)3.15982137
113skeletal muscle contraction (GO:0003009)3.15316260
114regulation of muscle system process (GO:0090257)3.13434757
115pathway-restricted SMAD protein phosphorylation (GO:0060389)3.07213275
116muscle adaptation (GO:0043500)3.05804044
117regulation of cardioblast proliferation (GO:0003264)3.04250497
118regulation of secondary heart field cardioblast proliferation (GO:0003266)3.04250497
119epithelial cell-cell adhesion (GO:0090136)3.03349971
120retina vasculature morphogenesis in camera-type eye (GO:0061299)3.02614218
121muscle cell cellular homeostasis (GO:0046716)2.99466140
122neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)2.98659043

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1PPARG_19300518_ChIP-PET_3T3-L1_Mouse6.05203795
2* EP300_21415370_ChIP-Seq_HL-1_Mouse6.01695639
3* TBX20_22080862_ChIP-Seq_HEART_Mouse4.21646538
4* TBX20_22328084_ChIP-Seq_HEART_Mouse4.21646538
5ESRRB_18555785_ChIP-Seq_MESCs_Mouse4.17001385
6RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse4.16304421
7* MEF2A_21415370_ChIP-Seq_HL-1_Mouse3.80253175
8RARG_19884340_ChIP-ChIP_MEFs_Mouse3.78401498
9TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.59475372
10ESR1_20079471_ChIP-ChIP_T-47D_Human3.52954006
11GATA4_21415370_ChIP-Seq_HL-1_Mouse2.94403248
12* EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.75916675
13ZNF263_19887448_ChIP-Seq_K562_Human2.69311447
14SMAD_19615063_ChIP-ChIP_OVARY_Human2.52547311
15PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.28547841
16CDX2_19796622_ChIP-Seq_MESCs_Mouse2.25771586
17CLOCK_20551151_ChIP-Seq_293T_Human2.24690647
18NKX2-5_21415370_ChIP-Seq_HL-1_Mouse2.20576715
19* CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.12998270
20* TRIM28_21343339_ChIP-Seq_HEK293_Human2.04965375
21HIF1A_21447827_ChIP-Seq_MCF-7_Human2.00859813
22TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.97492026
23TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.89824057
24NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.86947000
25PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.79207218
26* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.72117780
27ISL1_27105846_Chip-Seq_CPCs_Mouse1.64309969
28PPAR_26484153_Chip-Seq_NCI-H1993_Human1.64271306
29NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.61276096
30* ESR2_21235772_ChIP-Seq_MCF-7_Human1.59002454
31NFIB_24661679_ChIP-Seq_LUNG_Mouse1.54618455
32THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.54033268
33ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.48932210
34SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.46237659
35TP63_17297297_ChIP-ChIP_HaCaT_Human1.45573328
36SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.42384328
37CJUN_26792858_Chip-Seq_BT549_Human1.42318540
38ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.41722700
39RNF2_18974828_ChIP-Seq_MESCs_Mouse1.41452810
40EZH2_18974828_ChIP-Seq_MESCs_Mouse1.41452810
41ZNF217_24962896_ChIP-Seq_MCF-7_Human1.39691357
42BP1_19119308_ChIP-ChIP_Hs578T_Human1.39003396
43TP53_18474530_ChIP-ChIP_U2OS_Human1.38581190
44CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.38570117
45CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.36403684
46NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.34300578
47ATF3_27146783_Chip-Seq_COLON_Human1.33478159
48WT1_19549856_ChIP-ChIP_CCG9911_Human1.31913543
49ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.29768375
50* GATA2_21666600_ChIP-Seq_HMVEC_Human1.29268740
51KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.29175345
52ELK3_25401928_ChIP-Seq_HUVEC_Human1.29063376
53TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.25559948
54* ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.22660206
55GATA1_22025678_ChIP-Seq_K562_Human1.20256580
56KDM2B_26808549_Chip-Seq_SUP-B15_Human1.18298468
57* CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.18296476
58PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.17537183
59TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.17386862
60ESR1_21235772_ChIP-Seq_MCF-7_Human1.16811937
61SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.16427147
62PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.15772503
63EED_16625203_ChIP-ChIP_MESCs_Mouse1.14903155
64TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.14392692
65* SALL4_18804426_ChIP-ChIP_XEN_Mouse1.14270812
66SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.13621116
67RACK7_27058665_Chip-Seq_MCF-7_Human1.12919854
68MTF2_20144788_ChIP-Seq_MESCs_Mouse1.09790960
69SOX9_24532713_ChIP-Seq_HFSC_Mouse1.08126348
70NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.07800520
71GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.07794154
72SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.07736423
73SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.07542955
74GATA1_19941826_ChIP-Seq_K562_Human1.05630469
75STAT3_1855785_ChIP-Seq_MESCs_Mouse1.05201643
76FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.04735999
77SMC3_22415368_ChIP-Seq_MEFs_Mouse1.04091137
78TP53_23651856_ChIP-Seq_MEFs_Mouse1.04032459
79BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.02262869
80ZFP281_18757296_ChIP-ChIP_E14_Mouse1.01398398
81KDM2B_26808549_Chip-Seq_DND41_Human1.00580058
82DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.00437513
83TP63_22573176_ChIP-Seq_HFKS_Human1.00225291
84TP53_16413492_ChIP-PET_HCT116_Human0.99182173
85CTNNB1_20460455_ChIP-Seq_HCT116_Human0.99114714
86ZNF274_21170338_ChIP-Seq_K562_Hela0.98700772
87RUNX1_27514584_Chip-Seq_MCF-7_Human0.97368255
88CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.96741833
89LXR_22158963_ChIP-Seq_LIVER_Mouse0.96136476
90PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.95939958
91* PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.95229374
92* SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.94904316
93* SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.94904316
94WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.94784607
95FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.94178873
96SMAD4_21741376_ChIP-Seq_HESCs_Human0.93518520
97PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.93000119
98PPARA_22158963_ChIP-Seq_LIVER_Mouse0.92483543
99SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.91572718
100GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.91521452
101JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.91259549
102UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.90625044
103SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.90345897
104CTCF_27219007_Chip-Seq_Bcells_Human0.90073727
105AHR_22903824_ChIP-Seq_MCF-7_Human0.88679181
106TBX5_21415370_ChIP-Seq_HL-1_Mouse0.86242873
107NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.85906824
108NRF2_20460467_ChIP-Seq_MEFs_Mouse0.85906824
109EZH2_27304074_Chip-Seq_ESCs_Mouse0.84688717
110SMC1_22415368_ChIP-Seq_MEFs_Mouse0.84667924
111TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.84595716
112PIAS1_25552417_ChIP-Seq_VCAP_Human0.84171089
113SPI1_20517297_ChIP-Seq_HL60_Human0.84043963
114SMAD4_21799915_ChIP-Seq_A2780_Human0.83557468
115* FOXO3_23340844_ChIP-Seq_DLD1_Human0.83416614
116JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.83111144
117OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.82883218
118UBF1/2_26484160_Chip-Seq_HMECs_Human0.82772985
119* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.82418989
120PCGF2_27294783_Chip-Seq_NPCs_Mouse0.82156414
121SUZ12_16625203_ChIP-ChIP_MESCs_Mouse0.81522871
122* NR3C1_23031785_ChIP-Seq_PC12_Mouse0.81334879
123RXR_22158963_ChIP-Seq_LIVER_Mouse0.80512387
124BRD4_25478319_ChIP-Seq_HGPS_Human0.80221230
125SA1_22415368_ChIP-Seq_MEFs_Mouse0.80101219
126P300_27058665_Chip-Seq_ZR-75-30cells_Human0.80071351
127WT1_25993318_ChIP-Seq_PODOCYTE_Human0.80018407
128* FOXA2_19822575_ChIP-Seq_HepG2_Human0.79866192
129TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.78896961
130BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.78043311
131* SMAD3_21741376_ChIP-Seq_HESCs_Human0.77737297
132ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.77469372

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002837_dystrophic_cardiac_calcinosis6.43967855
2MP0004084_abnormal_cardiac_muscle6.23242845
3MP0000751_myopathy4.76275175
4MP0004215_abnormal_myocardial_fiber4.48065088
5MP0003646_muscle_fatigue4.47388146
6MP0000749_muscle_degeneration4.27061150
7MP0004036_abnormal_muscle_relaxation4.21249241
8MP0005330_cardiomyopathy4.07466373
9MP0002972_abnormal_cardiac_muscle3.42091268
10MP0008775_abnormal_heart_ventricle3.17285474
11* MP0004087_abnormal_muscle_fiber3.14630167
12MP0003137_abnormal_impulse_conducting2.91421866
13MP0010630_abnormal_cardiac_muscle2.84145281
14MP0001544_abnormal_cardiovascular_syste2.75181271
15MP0005385_cardiovascular_system_phenoty2.75181271
16MP0000750_abnormal_muscle_regeneration2.72033008
17MP0005620_abnormal_muscle_contractility2.71420048
18MP0006138_congestive_heart_failure2.70084807
19MP0003828_pulmonary_edema2.33937118
20MP0004484_altered_response_of2.32978236
21MP0002269_muscular_atrophy2.30226097
22* MP0002106_abnormal_muscle_physiology2.29103438
23MP0003221_abnormal_cardiomyocyte_apopto2.28666467
24MP0004085_abnormal_heartbeat2.18653398
25MP0004510_myositis2.13319563
26MP0000747_muscle_weakness1.97922177
27MP0004130_abnormal_muscle_cell1.96773261
28MP0004145_abnormal_muscle_electrophysio1.93792098
29MP0000759_abnormal_skeletal_muscle1.88160665
30* MP0005369_muscle_phenotype1.88145243
31MP0002127_abnormal_cardiovascular_syste1.84496289
32MP0003950_abnormal_plasma_membrane1.83390299
33MP0004233_abnormal_muscle_weight1.69306090
34MP0003279_aneurysm1.53610380
35MP0003567_abnormal_fetal_cardiomyocyte1.47280449
36MP0010368_abnormal_lymphatic_system1.39542388
37MP0005623_abnormal_meninges_morphology1.37680614
38MP0006036_abnormal_mitochondrial_physio1.37306842
39MP0003566_abnormal_cell_adhesion1.33213116
40MP0000266_abnormal_heart_morphology1.28803531
41MP0002234_abnormal_pharynx_morphology1.24573839
42MP0002332_abnormal_exercise_endurance1.12871990
43MP0010030_abnormal_orbit_morphology1.11959981
44MP0004272_abnormal_basement_membrane1.10037293
45MP0001661_extended_life_span1.09446588
46MP0003705_abnormal_hypodermis_morpholog1.04564225
47MP0000733_abnormal_muscle_development1.03902407
48MP0000343_altered_response_to1.01602745
49MP0005666_abnormal_adipose_tissue1.00170642
50MP0005670_abnormal_white_adipose0.99865769
51MP0002128_abnormal_blood_circulation0.98811402
52MP0000767_abnormal_smooth_muscle0.98729637
53MP0009384_cardiac_valve_regurgitation0.96297364
54MP0005165_increased_susceptibility_to0.96214280
55MP0005451_abnormal_body_composition0.95290765
56MP0008438_abnormal_cutaneous_collagen0.93441031
57MP0002108_abnormal_muscle_morphology0.89212684
58MP0006035_abnormal_mitochondrial_morpho0.86370842
59MP0009780_abnormal_chondrocyte_physiolo0.85338214
60MP0001879_abnormal_lymphatic_vessel0.79463428
61MP0000013_abnormal_adipose_tissue0.79295435
62MP0000230_abnormal_systemic_arterial0.77173151
63MP0001348_abnormal_lacrimal_gland0.73908612
64MP0005375_adipose_tissue_phenotype0.73460521
65MP0002925_abnormal_cardiovascular_devel0.69141067
66MP0003984_embryonic_growth_retardation0.66988374
67MP0002088_abnormal_embryonic_growth/wei0.66165220
68MP0005266_abnormal_metabolism0.65820305
69MP0001915_intracranial_hemorrhage0.60463224
70MP0005275_abnormal_skin_tensile0.58037901
71MP0003941_abnormal_skin_development0.57679314
72MP0004185_abnormal_adipocyte_glucose0.56891478
73MP0001614_abnormal_blood_vessel0.56876089
74MP0000003_abnormal_adipose_tissue0.56069758
75MP0002877_abnormal_melanocyte_morpholog0.53938423
76MP0001784_abnormal_fluid_regulation0.53520620
77MP0002933_joint_inflammation0.52723548
78MP0005503_abnormal_tendon_morphology0.51845244
79MP0003045_fibrosis0.51734587
80MP0000537_abnormal_urethra_morphology0.51160471
81MP0001542_abnormal_bone_strength0.49903340
82MP0003806_abnormal_nucleotide_metabolis0.49706515
83MP0005167_abnormal_blood-brain_barrier0.49585767
84MP0009250_abnormal_appendicular_skeleto0.49277376
85MP0003283_abnormal_digestive_organ0.47091182
86MP0002896_abnormal_bone_mineralization0.45181866
87MP0005197_abnormal_uvea_morphology0.43851981
88MP0002168_other_aberrant_phenotype0.43562492
89MP0001672_abnormal_embryogenesis/_devel0.43087394
90MP0005380_embryogenesis_phenotype0.43087394
91MP0002909_abnormal_adrenal_gland0.42744301
92MP0003091_abnormal_cell_migration0.41811926
93MP0000534_abnormal_ureter_morphology0.40336710
94MP0005595_abnormal_vascular_smooth0.38885040
95MP0008004_abnormal_stomach_pH0.38393211
96MP0005409_darkened_coat_color0.38263022
97MP0003385_abnormal_body_wall0.37833022
98MP0009840_abnormal_foam_cell0.37202608
99MP0001958_emphysema0.35895251
100MP0003300_gastrointestinal_ulcer0.35825701
101MP0010352_gastrointestinal_tract_polyps0.35323248
102MP0003948_abnormal_gas_homeostasis0.34102709
103MP0003122_maternal_imprinting0.33321638
104MP0005319_abnormal_enzyme/_coenzyme0.31967964
105MP0005187_abnormal_penis_morphology0.31629809
106MP0002133_abnormal_respiratory_system0.30481544
107MP0005388_respiratory_system_phenotype0.30481544
108MP0002971_abnormal_brown_adipose0.27684769
109MP0000249_abnormal_blood_vessel0.27311293
110MP0002295_abnormal_pulmonary_circulatio0.26518892
111MP0005023_abnormal_wound_healing0.26312399
112MP0003935_abnormal_craniofacial_develop0.25543651
113MP0001299_abnormal_eye_distance/0.25333652
114MP0001727_abnormal_embryo_implantation0.24804123
115MP0003115_abnormal_respiratory_system0.24123774
116MP0001175_abnormal_lung_morphology0.22628556
117MP0001697_abnormal_embryo_size0.22406994
118MP0000428_abnormal_craniofacial_morphol0.21357071
119MP0000762_abnormal_tongue_morphology0.20939048
120MP0004043_abnormal_pH_regulation0.20306977
121MP0002078_abnormal_glucose_homeostasis0.20192711

Predicted human phenotypes

RankGene SetZ-score
1Sudden death (HP:0001699)8.11017416
2Ventricular tachycardia (HP:0004756)7.09644505
3Atrial fibrillation (HP:0005110)6.39636564
4Calf muscle hypertrophy (HP:0008981)6.16458789
5Primary atrial arrhythmia (HP:0001692)5.98459497
6Exercise-induced muscle cramps (HP:0003710)5.91104401
7Lipoatrophy (HP:0100578)5.82354067
8Muscle fiber splitting (HP:0003555)5.79796439
9Supraventricular tachycardia (HP:0004755)5.78207326
10Supraventricular arrhythmia (HP:0005115)5.68690343
11Abnormality of the calf musculature (HP:0001430)5.46692221
12Right ventricular cardiomyopathy (HP:0011663)5.45640002
13Muscle hypertrophy of the lower extremities (HP:0008968)5.45242802
14Hyporeflexia of lower limbs (HP:0002600)5.42945898
15Exercise-induced myalgia (HP:0003738)5.28480011
16Subaortic stenosis (HP:0001682)5.17337931
17Abnormality of the left ventricular outflow tract (HP:0011103)5.17337931
18Dilated cardiomyopathy (HP:0001644)4.68253958
19Syncope (HP:0001279)4.51005543
20EMG: myopathic abnormalities (HP:0003458)4.47295586
21Myoglobinuria (HP:0002913)4.35020185
22Bundle branch block (HP:0011710)4.34126494
23Palpitations (HP:0001962)4.25086444
24Prolonged QT interval (HP:0001657)4.06217854
25Ventricular arrhythmia (HP:0004308)4.04732756
26Increased connective tissue (HP:0009025)3.82617715
27Asymmetric septal hypertrophy (HP:0001670)3.70899518
28Heart block (HP:0012722)3.64742698
29Atrioventricular block (HP:0001678)3.58060038
30Abnormal atrioventricular conduction (HP:0005150)3.52075232
31Rhabdomyolysis (HP:0003201)3.45268295
32Ventricular fibrillation (HP:0001663)3.28467589
33Difficulty running (HP:0009046)3.20941907
34Distal lower limb muscle weakness (HP:0009053)3.10444276
35Popliteal pterygium (HP:0009756)3.01785069
36Difficulty climbing stairs (HP:0003551)2.98303877
37Left ventricular hypertrophy (HP:0001712)2.94508592
38Myotonia (HP:0002486)2.94487808
39Fatigable weakness (HP:0003473)2.88807838
40Abnormality of the neuromuscular junction (HP:0003398)2.88807838
41Aplasia of the musculature (HP:0100854)2.87515136
42Abnormal EKG (HP:0003115)2.87463048
43Bradycardia (HP:0001662)2.85021281
44Palmoplantar keratoderma (HP:0000982)2.81607542
45Protrusio acetabuli (HP:0003179)2.76694414
46Type 1 muscle fiber predominance (HP:0003803)2.75468957
47Arterial tortuosity (HP:0005116)2.72227517
48Type 2 muscle fiber atrophy (HP:0003554)2.71735939
49Neck muscle weakness (HP:0000467)2.66359877
50Premature rupture of membranes (HP:0001788)2.65516748
51Congenital malformation of the right heart (HP:0011723)2.64913400
52Double outlet right ventricle (HP:0001719)2.64913400
53Acute necrotizing encephalopathy (HP:0006965)2.64526585
54Abnormal mitochondria in muscle tissue (HP:0008316)2.62906314
55Round ear (HP:0100830)2.56530576
56Hepatic necrosis (HP:0002605)2.54779545
57Vascular tortuosity (HP:0004948)2.52555086
58Aortic dissection (HP:0002647)2.51338351
59Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)2.49709145
60Muscle fiber atrophy (HP:0100295)2.43927191
61Ragged-red muscle fibers (HP:0003200)2.43370947
62Limb-girdle muscle atrophy (HP:0003797)2.42600920
63Abnormality of the tricuspid valve (HP:0001702)2.42193224
64Conjunctival hamartoma (HP:0100780)2.40615903
65Aortic aneurysm (HP:0004942)2.40349603
66Increased variability in muscle fiber diameter (HP:0003557)2.38495183
67Areflexia of lower limbs (HP:0002522)2.37887985
68Abnormality of the foot musculature (HP:0001436)2.36684210
69Mildly elevated creatine phosphokinase (HP:0008180)2.35573617
70Lower limb amyotrophy (HP:0007210)2.33244139
71Centrally nucleated skeletal muscle fibers (HP:0003687)2.32784069
72Muscle fiber inclusion bodies (HP:0100299)2.32126467
73Bulbar palsy (HP:0001283)2.30911858
74Generalized muscle weakness (HP:0003324)2.30619374
75Hip contracture (HP:0003273)2.28627252
76Abnormality of skeletal muscle fiber size (HP:0012084)2.24245035
77Gowers sign (HP:0003391)2.22167355
78Hepatocellular necrosis (HP:0001404)2.21922372
79Scapular winging (HP:0003691)2.21850150
80Hypoglycemic coma (HP:0001325)2.21284741
81Foot dorsiflexor weakness (HP:0009027)2.19404410
82Acute encephalopathy (HP:0006846)2.17538534
83Mitochondrial inheritance (HP:0001427)2.17068071
84Malignant hyperthermia (HP:0002047)2.15931259
85Progressive macrocephaly (HP:0004481)2.14287536
86Ketoacidosis (HP:0001993)2.13971699
87Distal lower limb amyotrophy (HP:0008944)2.13895669
88Hypoplastic heart (HP:0001961)2.13048557
89Sudden cardiac death (HP:0001645)2.11998068
90Easy fatigability (HP:0003388)2.11036704
91Congestive heart failure (HP:0001635)2.10751870
92Testicular atrophy (HP:0000029)2.09967022
93EMG: neuropathic changes (HP:0003445)2.09781157
94Exercise intolerance (HP:0003546)2.09284742
95Rimmed vacuoles (HP:0003805)2.08380428
96Distal arthrogryposis (HP:0005684)2.07493726
97Increased CSF lactate (HP:0002490)2.07006195
98Pheochromocytoma (HP:0002666)2.06582315
99Limited hip movement (HP:0008800)2.05032265
100Hypoplastic left heart (HP:0004383)2.04209941
101Amniotic constriction ring (HP:0009775)2.03967196
102Abnormality of placental membranes (HP:0011409)2.03967196
103Cerebral aneurysm (HP:0004944)2.03619931
104Thin ribs (HP:0000883)2.01894499
105Diaphragmatic weakness (HP:0009113)2.01270964
106Neoplasm of the adrenal gland (HP:0100631)2.00359965
107Muscular dystrophy (HP:0003560)2.00028950
108Muscle stiffness (HP:0003552)1.98817279
109Fetal akinesia sequence (HP:0001989)1.98631735
110Cerebral edema (HP:0002181)1.97924854
111Ulnar deviation of the wrist (HP:0003049)1.94545003
112Spinal rigidity (HP:0003306)1.93263052
113Increased muscle lipid content (HP:0009058)1.91292003
114Respiratory failure (HP:0002878)1.88996627
115Patent foramen ovale (HP:0001655)1.86723524
116Wrist flexion contracture (HP:0001239)1.85581803
117Nemaline bodies (HP:0003798)1.84847045
118Respiratory insufficiency due to muscle weakness (HP:0002747)1.84231853
119Neuroendocrine neoplasm (HP:0100634)1.83372871
120Pterygium (HP:0001059)1.81180144
121Abnormality of fatty-acid metabolism (HP:0004359)1.80954728
122Hamartoma of the eye (HP:0010568)1.80694777
123Aneurysm (HP:0002617)1.80088368
124Dicarboxylic aciduria (HP:0003215)1.79696782
125Abnormality of dicarboxylic acid metabolism (HP:0010995)1.79696782
126Abnormality of the shoulder girdle musculature (HP:0001435)1.79689646
127Abnormality of glycolysis (HP:0004366)1.77246557
128Increased serum pyruvate (HP:0003542)1.77246557
129Pulmonary artery stenosis (HP:0004415)1.76060017
130Waddling gait (HP:0002515)1.74413146
131Lactic acidosis (HP:0003128)1.72691522
132Hypoplastic ischia (HP:0003175)1.71962706
133Increased intramyocellular lipid droplets (HP:0012240)1.70367339
134Facial diplegia (HP:0001349)1.69256455
135Weak cry (HP:0001612)1.68984249

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TTN5.51962753
2OBSCN5.48791273
3MYLK4.77368198
4LMTK23.42697930
5PKN23.42390536
6DMPK3.16601213
7PHKG12.95870590
8PHKG22.95870590
9MUSK2.84822832
10PDK32.71454735
11PDK42.71454735
12PIK3CA2.70588569
13TRIB32.59968970
14STK242.57005505
15STK38L1.94380691
16NEK11.89244342
17ZAK1.86941052
18TIE11.81038059
19PAK31.73186203
20BCKDK1.65980175
21ILK1.63237172
22CDC42BPA1.53009651
23PDK21.52775925
24ROCK11.36210588
25TRPM71.31419152
26DAPK31.27102660
27CAMK2D1.23887123
28PRKD11.23692229
29FLT31.17419571
30PINK11.13855119
31STK41.07402823
32PDGFRA1.06978965
33RIPK11.00493139
34GRK71.00090532
35PTK2B0.95975587
36MAP3K120.95843704
37WNK40.94328888
38MAP3K50.92358755
39LIMK10.91786302
40MAPKAPK30.89795915
41ERBB40.88581204
42ROCK20.88009597
43MAP3K70.84000159
44MAP3K60.82010993
45MARK10.76768475
46MET0.75604542
47PKN10.70596486
48MAPK120.69571849
49NTRK10.69101455
50LATS10.68001018
51PRKAA20.66903704
52PRKAA10.65127150
53STK380.64476821
54EPHB20.63971615
55CAMK2B0.62551882
56KDR0.61959502
57MAPK70.61893406
58CAMK10.58483102
59CAMK2A0.57528839
60WNK10.57315317
61MAP3K30.56606763
62PAK20.54209666
63TGFBR20.54175281
64LRRK20.53310177
65RPS6KC10.53309520
66RPS6KL10.53309520
67NEK90.53183645
68INSRR0.52287043
69LATS20.51342761
70CAMK40.50877288
71PAK60.50444312
72MAP3K100.49409691
73PTK60.49136211
74AKT20.47008904
75MAP2K30.46407878
76PRKACB0.44741256
77RPS6KA60.44266006
78MOS0.44086956
79PRKCE0.41514266
80MAPK40.39939310
81ZAP700.38247162
82FER0.37536431
83TESK10.37361728
84PRKG20.36672291
85CAMK2G0.35200807
86STK30.34996926
87EPHA30.33003411
88MAP2K10.32923074
89NME20.32280597
90ABL20.30522198
91PRKACA0.29983902
92PRKD30.29887053
93SCYL20.29660594
94MTOR0.29110327
95DDR20.28725025
96STK390.28584272
97EPHB10.27096974
98CDK80.26252022
99SGK30.25995685
100PRKACG0.25783870
101IRAK30.25609764
102PRKCH0.25569751
103MAP3K130.24942121
104PTK20.24034239
105PRKD20.23500698
106PRKG10.23074132
107GSK3A0.22020633
108FGFR10.21250213
109ITK0.21014801
110PDGFRB0.19803268
111PIM20.18311832
112RPS6KB20.17960136
113PAK40.17596246
114ARAF0.17210050
115PIK3CG0.16654634
116MAPKAPK20.16123118
117RPS6KA10.15461726
118ICK0.15425418
119NUAK10.13420735
120PDPK10.12655322
121TGFBR10.11682436
122RPS6KA20.11640370
123RET0.11420947
124EPHA20.10767611

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000205.62805785
2Cardiac muscle contraction_Homo sapiens_hsa042604.91076943
3Dilated cardiomyopathy_Homo sapiens_hsa054144.46205439
4Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054104.46036843
52-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.88621424
6Parkinsons disease_Homo sapiens_hsa050123.34811780
7Oxidative phosphorylation_Homo sapiens_hsa001903.19363204
8Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.98045484
9Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.87784547
10Propanoate metabolism_Homo sapiens_hsa006402.65379890
11Carbon metabolism_Homo sapiens_hsa012002.43730401
12Alzheimers disease_Homo sapiens_hsa050102.41110388
13Fatty acid degradation_Homo sapiens_hsa000712.39497964
14Huntingtons disease_Homo sapiens_hsa050162.15856223
15Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.15082376
16Viral myocarditis_Homo sapiens_hsa054161.94333815
17Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.91025715
18Fatty acid metabolism_Homo sapiens_hsa012121.79024464
19Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.72164370
20Pyruvate metabolism_Homo sapiens_hsa006201.57590095
21Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.51026438
22Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.41177856
23Focal adhesion_Homo sapiens_hsa045101.26227434
24Biosynthesis of amino acids_Homo sapiens_hsa012301.25315481
25Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.21946801
26Circadian rhythm_Homo sapiens_hsa047101.21482201
27Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.21051786
28Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.11255907
29cGMP-PKG signaling pathway_Homo sapiens_hsa040221.07428777
30Tight junction_Homo sapiens_hsa045301.04261939
31HIF-1 signaling pathway_Homo sapiens_hsa040661.00771445
32ECM-receptor interaction_Homo sapiens_hsa045120.98521511
33Glucagon signaling pathway_Homo sapiens_hsa049220.98431584
34Fatty acid elongation_Homo sapiens_hsa000620.93134113
35Butanoate metabolism_Homo sapiens_hsa006500.92739907
36Starch and sucrose metabolism_Homo sapiens_hsa005000.90737622
37Sulfur metabolism_Homo sapiens_hsa009200.89394825
38Adherens junction_Homo sapiens_hsa045200.87598480
39Insulin resistance_Homo sapiens_hsa049310.87287472
40PPAR signaling pathway_Homo sapiens_hsa033200.85356730
41Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.83535406
42Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.79545840
43Insulin signaling pathway_Homo sapiens_hsa049100.76736603
44Central carbon metabolism in cancer_Homo sapiens_hsa052300.75815117
45Adipocytokine signaling pathway_Homo sapiens_hsa049200.75434484
46Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.71482079
47Galactose metabolism_Homo sapiens_hsa000520.67813947
48Vascular smooth muscle contraction_Homo sapiens_hsa042700.66898291
49Complement and coagulation cascades_Homo sapiens_hsa046100.66407963
50Leukocyte transendothelial migration_Homo sapiens_hsa046700.65744794
51Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.63846235
52Proteoglycans in cancer_Homo sapiens_hsa052050.61527547
53Glycosaminoglycan degradation_Homo sapiens_hsa005310.61020938
54Lysine degradation_Homo sapiens_hsa003100.59971372
55Prion diseases_Homo sapiens_hsa050200.59519695
56Protein digestion and absorption_Homo sapiens_hsa049740.58517738
57Regulation of actin cytoskeleton_Homo sapiens_hsa048100.57238922
58Amoebiasis_Homo sapiens_hsa051460.56929227
59Oxytocin signaling pathway_Homo sapiens_hsa049210.56832627
60Sulfur relay system_Homo sapiens_hsa041220.54285101
61Calcium signaling pathway_Homo sapiens_hsa040200.53958998
62AMPK signaling pathway_Homo sapiens_hsa041520.51079795
63Tryptophan metabolism_Homo sapiens_hsa003800.50497134
64Thyroid hormone signaling pathway_Homo sapiens_hsa049190.50400838
65Fructose and mannose metabolism_Homo sapiens_hsa000510.47171236
66Bladder cancer_Homo sapiens_hsa052190.45800234
67Arginine and proline metabolism_Homo sapiens_hsa003300.45278485
68Phenylalanine metabolism_Homo sapiens_hsa003600.45075218
69Bile secretion_Homo sapiens_hsa049760.44417966
70Axon guidance_Homo sapiens_hsa043600.44261280
71Type II diabetes mellitus_Homo sapiens_hsa049300.40949840
72Small cell lung cancer_Homo sapiens_hsa052220.39842827
73Arginine biosynthesis_Homo sapiens_hsa002200.39489283
74Phospholipase D signaling pathway_Homo sapiens_hsa040720.34231769
75Pancreatic secretion_Homo sapiens_hsa049720.33818888
76cAMP signaling pathway_Homo sapiens_hsa040240.33161860
77beta-Alanine metabolism_Homo sapiens_hsa004100.32663804
78MAPK signaling pathway_Homo sapiens_hsa040100.32400795
79Longevity regulating pathway - mammal_Homo sapiens_hsa042110.29743218
80Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.29041425
81Pancreatic cancer_Homo sapiens_hsa052120.28222742
82Renal cell carcinoma_Homo sapiens_hsa052110.27729372
83Malaria_Homo sapiens_hsa051440.27142839
84Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.26626036
85Hippo signaling pathway_Homo sapiens_hsa043900.25772925
86Tyrosine metabolism_Homo sapiens_hsa003500.24853147
87Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.24727711
88Thyroid hormone synthesis_Homo sapiens_hsa049180.24363349
89Platelet activation_Homo sapiens_hsa046110.23061358
90AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.21509115
91Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.21316666
92Renin secretion_Homo sapiens_hsa049240.20947505
93PI3K-Akt signaling pathway_Homo sapiens_hsa041510.20400740
94Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.19970869
95Metabolic pathways_Homo sapiens_hsa011000.19245070
96Peroxisome_Homo sapiens_hsa041460.19219405
97Fatty acid biosynthesis_Homo sapiens_hsa000610.19123278
98Chronic myeloid leukemia_Homo sapiens_hsa052200.18955015
99Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.16395925
100Insulin secretion_Homo sapiens_hsa049110.15840845
101TGF-beta signaling pathway_Homo sapiens_hsa043500.12757783
102Gap junction_Homo sapiens_hsa045400.12296338
103Gastric acid secretion_Homo sapiens_hsa049710.11667049
104Pathways in cancer_Homo sapiens_hsa052000.10606440
105Toxoplasmosis_Homo sapiens_hsa051450.09691892
106Rap1 signaling pathway_Homo sapiens_hsa040150.09691057
107Cysteine and methionine metabolism_Homo sapiens_hsa002700.09326977
108Ovarian steroidogenesis_Homo sapiens_hsa049130.09231092
109FoxO signaling pathway_Homo sapiens_hsa040680.08838048
110Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.08429688
111Circadian entrainment_Homo sapiens_hsa047130.08335657
112mTOR signaling pathway_Homo sapiens_hsa041500.07737399
113Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.07201634
114Aldosterone synthesis and secretion_Homo sapiens_hsa049250.05431107
115MicroRNAs in cancer_Homo sapiens_hsa052060.05425802
116Melanoma_Homo sapiens_hsa052180.05323932
117Basal cell carcinoma_Homo sapiens_hsa052170.05316840
118Melanogenesis_Homo sapiens_hsa049160.04888635
119VEGF signaling pathway_Homo sapiens_hsa043700.04227729
120Endometrial cancer_Homo sapiens_hsa052130.03657435
121GnRH signaling pathway_Homo sapiens_hsa049120.01834069
122Pentose phosphate pathway_Homo sapiens_hsa000300.01299167

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