PALM2-AKAP2

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: PALM2-AKAP2 mRNAs are naturally occurring read-through products of the neighboring PALM2 and AKAP2 genes. The significance of these read-through mRNAs and the function the resulting fusion protein products have not yet been determined. Alternative splicing of this gene results in several transcript variants encoding different isoforms, but the full-length nature of some of these variants has not been defined. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1cardiac myofibril assembly (GO:0055003)5.84074664
2sarcomere organization (GO:0045214)5.55360793
3myofibril assembly (GO:0030239)5.12712123
4regulation of cardioblast differentiation (GO:0051890)4.94803825
5negative regulation of cardiac muscle cell apoptotic process (GO:0010667)4.80354356
6muscle filament sliding (GO:0030049)4.64653718
7actin-myosin filament sliding (GO:0033275)4.64653718
8cardiac muscle cell development (GO:0055013)4.29027718
9regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO4.27975607
10actin-mediated cell contraction (GO:0070252)4.22251217
11regulation of the force of heart contraction (GO:0002026)4.21125072
12actomyosin structure organization (GO:0031032)4.14675737
13cardiac muscle contraction (GO:0060048)4.12717143
14cardiac cell development (GO:0055006)4.09777591
15cell migration involved in heart development (GO:0060973)4.04914882
16positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)4.03909706
17cardiac chamber formation (GO:0003207)3.87186564
18cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.83106906
19protein heterotrimerization (GO:0070208)3.82689653
20regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.81708142
21cardiac muscle hypertrophy (GO:0003300)3.78936703
22atrial septum morphogenesis (GO:0060413)3.72378773
23cardiac muscle tissue morphogenesis (GO:0055008)3.71757753
24regulation of actin filament-based movement (GO:1903115)3.67721284
25ventricular cardiac muscle tissue morphogenesis (GO:0055010)3.66171715
26endodermal cell differentiation (GO:0035987)3.61164637
27striated muscle hypertrophy (GO:0014897)3.60256002
28adult heart development (GO:0007512)3.58711322
29cell communication by electrical coupling (GO:0010644)3.54857223
30regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)3.49620419
31regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)3.48992296
32muscle tissue morphogenesis (GO:0060415)3.46717959
33collagen fibril organization (GO:0030199)3.45261341
34cellular response to epinephrine stimulus (GO:0071872)3.44144223
35bundle of His cell to Purkinje myocyte communication (GO:0086069)3.43371317
36atrioventricular valve morphogenesis (GO:0003181)3.41912950
37actin filament-based movement (GO:0030048)3.38043224
38retina vasculature morphogenesis in camera-type eye (GO:0061299)3.36008118
39epithelial cell-cell adhesion (GO:0090136)3.32072927
40cardiac ventricle formation (GO:0003211)3.24590873
41muscle hypertrophy (GO:0014896)3.18914584
42negative regulation of potassium ion transmembrane transporter activity (GO:1901017)3.17527886
43outflow tract septum morphogenesis (GO:0003148)3.13481680
44cell communication involved in cardiac conduction (GO:0086065)3.11705016
45cell-substrate junction assembly (GO:0007044)3.10119609
46response to epinephrine (GO:0071871)3.06492310
47negative regulation of striated muscle cell apoptotic process (GO:0010664)3.05128651
48low-density lipoprotein particle clearance (GO:0034383)3.02437930
49endocardial cushion development (GO:0003197)2.98059809
50basement membrane organization (GO:0071711)2.96906925
51striated muscle contraction (GO:0006941)2.95280558
52heart trabecula formation (GO:0060347)2.94253049
53ventricular cardiac muscle cell development (GO:0055015)2.93247809
54regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)2.91696795
55regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.91530720
56extracellular fibril organization (GO:0043206)2.89109591
57adherens junction assembly (GO:0034333)2.88428270
58cardiac muscle adaptation (GO:0014887)2.88309294
59cardiac muscle hypertrophy in response to stress (GO:0014898)2.88309294
60muscle hypertrophy in response to stress (GO:0003299)2.88309294
61negative regulation of potassium ion transmembrane transport (GO:1901380)2.88088415
62regulation of striated muscle contraction (GO:0006942)2.86017164
63focal adhesion assembly (GO:0048041)2.85177356
64cell-substrate adherens junction assembly (GO:0007045)2.85177356
65regulation of cardiac muscle cell apoptotic process (GO:0010665)2.84862384
66regulation of relaxation of muscle (GO:1901077)2.79679819
67sequestering of extracellular ligand from receptor (GO:0035581)2.79504459
68regulation of cardiac muscle cell contraction (GO:0086004)2.78204178
69paraxial mesoderm development (GO:0048339)2.78059948
70triglyceride catabolic process (GO:0019433)2.77898016
71regulation of cAMP-dependent protein kinase activity (GO:2000479)2.75560848
72venous blood vessel morphogenesis (GO:0048845)2.75320184
73ventricular cardiac muscle cell action potential (GO:0086005)2.75183077
74trabecula formation (GO:0060343)2.74786333
75bone trabecula formation (GO:0060346)2.74242758
76positive regulation of cardiac muscle cell proliferation (GO:0060045)2.74124520
77regulation of sequestering of triglyceride (GO:0010889)2.73786159
78endothelial cell morphogenesis (GO:0001886)2.73563456
79vascular endothelial growth factor signaling pathway (GO:0038084)2.72136996
80positive regulation of calcium ion transmembrane transporter activity (GO:1901021)2.71239150
81protein localization to cell surface (GO:0034394)2.70966238
82cytoskeletal anchoring at plasma membrane (GO:0007016)2.66570759
83chondrocyte proliferation (GO:0035988)2.66043026
84regulation of heart rate (GO:0002027)2.63744504
85positive regulation of cardiac muscle tissue development (GO:0055025)2.62446201
86regulation of tight junction assembly (GO:2000810)2.62231310
87gap junction assembly (GO:0016264)2.62200572
88positive regulation of cardiac muscle tissue growth (GO:0055023)2.62196537
89hemidesmosome assembly (GO:0031581)2.61362219
90regulation of cardiac muscle tissue development (GO:0055024)2.59897246
91fatty acid homeostasis (GO:0055089)2.58522296
92negative regulation of protein localization to cell surface (GO:2000009)2.58390744
93cell adhesion mediated by integrin (GO:0033627)2.57929953
94regulation of sarcomere organization (GO:0060297)2.57730275
95regulation of transforming growth factor beta2 production (GO:0032909)2.57498499
96cardiac muscle tissue development (GO:0048738)2.56418761
97substrate adhesion-dependent cell spreading (GO:0034446)2.56252792
98carnitine shuttle (GO:0006853)2.55827792
99regulation of cardiac muscle contraction (GO:0055117)2.55111678
100collagen metabolic process (GO:0032963)2.55102695

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human4.59248053
2EP300_21415370_ChIP-Seq_HL-1_Mouse3.64510176
3PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse3.51228817
4RARG_19884340_ChIP-ChIP_MEFs_Mouse3.01604433
5ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.69420770
6PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.52029836
7CDX2_19796622_ChIP-Seq_MESCs_Mouse2.43503165
8CLOCK_20551151_ChIP-Seq_293T_Human2.37395826
9TBX20_22328084_ChIP-Seq_HEART_Mouse2.30590723
10TBX20_22080862_ChIP-Seq_HEART_Mouse2.30590723
11WT1_19549856_ChIP-ChIP_CCG9911_Human2.12333657
12RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.04001765
13NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.02131030
14TP63_17297297_ChIP-ChIP_HaCaT_Human2.00338512
15EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.99965420
16SMAD_19615063_ChIP-ChIP_OVARY_Human1.96804725
17NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.88001933
18TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.83873148
19RNF2_18974828_ChIP-Seq_MESCs_Mouse1.81000588
20EZH2_18974828_ChIP-Seq_MESCs_Mouse1.81000588
21RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.78860117
22* CJUN_26792858_Chip-Seq_BT549_Human1.76254382
23SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.70955185
24WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.70893137
25MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.69201788
26CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.66794326
27TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.66030519
28SOX9_24532713_ChIP-Seq_HFSC_Mouse1.65883227
29EED_16625203_ChIP-ChIP_MESCs_Mouse1.64163801
30SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.61769145
31ISL1_27105846_Chip-Seq_CPCs_Mouse1.61599688
32SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.61184134
33EZH2_22144423_ChIP-Seq_EOC_Human1.54308296
34ZNF217_24962896_ChIP-Seq_MCF-7_Human1.53962826
35STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.53275692
36CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.51986007
37SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.51077197
38NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.50820928
39NRF2_20460467_ChIP-Seq_MEFs_Mouse1.50820928
40SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.47703712
41GBX2_23144817_ChIP-Seq_PC3_Human1.47119566
42NFIB_24661679_ChIP-Seq_LUNG_Mouse1.46318764
43CTNNB1_20460455_ChIP-Seq_HCT116_Human1.46035424
44TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.45748740
45* BRD4_25478319_ChIP-Seq_HGPS_Human1.45281808
46ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.44776916
47ESR2_21235772_ChIP-Seq_MCF-7_Human1.44143314
48GATA2_21666600_ChIP-Seq_HMVEC_Human1.44069010
49PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.42035944
50PPAR_26484153_Chip-Seq_NCI-H1993_Human1.40868398
51TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.37925557
52MTF2_20144788_ChIP-Seq_MESCs_Mouse1.37687181
53FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.37345836
54EZH2_27304074_Chip-Seq_ESCs_Mouse1.33262049
55TP53_16413492_ChIP-PET_HCT116_Human1.32595365
56SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.32482015
57WT1_25993318_ChIP-Seq_PODOCYTE_Human1.31772248
58SALL4_18804426_ChIP-ChIP_XEN_Mouse1.30133359
59ESR1_20079471_ChIP-ChIP_T-47D_Human1.28075610
60PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.25011143
61TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.24620274
62CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.22793084
63ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.22595753
64LXR_22158963_ChIP-Seq_LIVER_Mouse1.20085297
65TP53_18474530_ChIP-ChIP_U2OS_Human1.19460017
66NR3C1_23031785_ChIP-Seq_PC12_Mouse1.18894230
67* PIAS1_25552417_ChIP-Seq_VCAP_Human1.17091103
68NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.16033254
69DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.15998060
70RNF2_27304074_Chip-Seq_ESCs_Mouse1.15910277
71JARID2_20075857_ChIP-Seq_MESCs_Mouse1.14243628
72GATA4_21415370_ChIP-Seq_HL-1_Mouse1.11654947
73TP53_23651856_ChIP-Seq_MEFs_Mouse1.10632398
74AHR_22903824_ChIP-Seq_MCF-7_Human1.09925043
75SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.08958117
76PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.08454869
77SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.08361885
78RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.07151871
79THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.06932346
80HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.06469957
81JARID2_20064375_ChIP-Seq_MESCs_Mouse1.05593309
82HIF1A_21447827_ChIP-Seq_MCF-7_Human1.02653118
83P300_27058665_Chip-Seq_ZR-75-30cells_Human1.01961057
84RXR_22158963_ChIP-Seq_LIVER_Mouse1.00077437
85SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.99898158
86SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.99898158
87YAP1_20516196_ChIP-Seq_MESCs_Mouse0.99320296
88FOXA2_19822575_ChIP-Seq_HepG2_Human0.98247875
89ZNF263_19887448_ChIP-Seq_K562_Human0.97645478
90ZFP322A_24550733_ChIP-Seq_MESCs_Mouse0.96884330
91KDM2B_26808549_Chip-Seq_K562_Human0.96374028
92SMAD3_21741376_ChIP-Seq_HESCs_Human0.95957117
93SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.94784964
94SA1_22415368_ChIP-Seq_MEFs_Mouse0.93846167
95SMAD4_21799915_ChIP-Seq_A2780_Human0.91927382
96PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.91622651
97* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.91515367
98PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.91338321
99ARNT_22903824_ChIP-Seq_MCF-7_Human0.90853674
100EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.90031359

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen5.38167425
2MP0004084_abnormal_cardiac_muscle4.30966463
3MP0000751_myopathy4.16937409
4MP0004272_abnormal_basement_membrane3.58729741
5MP0005275_abnormal_skin_tensile3.26557452
6MP0005503_abnormal_tendon_morphology3.24760426
7MP0003705_abnormal_hypodermis_morpholog2.99037106
8MP0004036_abnormal_muscle_relaxation2.97672462
9MP0003279_aneurysm2.95268756
10MP0002837_dystrophic_cardiac_calcinosis2.75421334
11MP0004215_abnormal_myocardial_fiber2.64195418
12MP0005670_abnormal_white_adipose2.63729279
13MP0010368_abnormal_lymphatic_system2.36258966
14MP0005330_cardiomyopathy2.31220024
15MP0001958_emphysema2.28286844
16MP0000749_muscle_degeneration2.26666200
17MP0003566_abnormal_cell_adhesion2.24139379
18MP0004087_abnormal_muscle_fiber2.23311864
19MP0002972_abnormal_cardiac_muscle2.19282071
20MP0008775_abnormal_heart_ventricle2.17155468
21MP0006138_congestive_heart_failure2.09833534
22MP0003950_abnormal_plasma_membrane2.04322963
23MP0004130_abnormal_muscle_cell1.95755152
24MP0005620_abnormal_muscle_contractility1.95460938
25MP0010630_abnormal_cardiac_muscle1.90201752
26MP0005623_abnormal_meninges_morphology1.88786831
27MP0002108_abnormal_muscle_morphology1.84033935
28MP0000767_abnormal_smooth_muscle1.76244956
29MP0009384_cardiac_valve_regurgitation1.76167766
30MP0003828_pulmonary_edema1.72252079
31MP0001544_abnormal_cardiovascular_syste1.69799276
32MP0005385_cardiovascular_system_phenoty1.69799276
33MP0005666_abnormal_adipose_tissue1.67495413
34MP0000750_abnormal_muscle_regeneration1.65749832
35MP0003137_abnormal_impulse_conducting1.65312922
36MP0003941_abnormal_skin_development1.64549547
37MP0004510_myositis1.62680305
38MP0000759_abnormal_skeletal_muscle1.57793965
39MP0000013_abnormal_adipose_tissue1.52299549
40MP0005375_adipose_tissue_phenotype1.46647334
41MP0001299_abnormal_eye_distance/1.45137610
42MP0001661_extended_life_span1.42461005
43MP0005257_abnormal_intraocular_pressure1.41756371
44MP0003091_abnormal_cell_migration1.36819703
45MP0005369_muscle_phenotype1.36600126
46MP0002106_abnormal_muscle_physiology1.36554113
47MP0004085_abnormal_heartbeat1.36478537
48MP0002269_muscular_atrophy1.35841902
49MP0000733_abnormal_muscle_development1.35649104
50MP0000003_abnormal_adipose_tissue1.31725267
51MP0000747_muscle_weakness1.28539363
52MP0002127_abnormal_cardiovascular_syste1.24568690
53MP0004484_altered_response_of1.24459809
54MP0009780_abnormal_chondrocyte_physiolo1.22563444
55MP0005023_abnormal_wound_healing1.20664033
56MP0002971_abnormal_brown_adipose1.20388392
57MP0004145_abnormal_muscle_electrophysio1.19496144
58MP0002295_abnormal_pulmonary_circulatio1.18605180
59MP0005508_abnormal_skeleton_morphology1.15187761
60MP0002128_abnormal_blood_circulation1.10416408
61MP0005595_abnormal_vascular_smooth1.05845752
62MP0002060_abnormal_skin_morphology1.05790524
63MP0001879_abnormal_lymphatic_vessel1.00357352
64MP0000534_abnormal_ureter_morphology0.99219926
65MP0005165_increased_susceptibility_to0.93811387
66MP0000266_abnormal_heart_morphology0.93339777
67MP0003385_abnormal_body_wall0.92791263
68MP0002896_abnormal_bone_mineralization0.92593779
69MP0004858_abnormal_nervous_system0.91752630
70MP0009250_abnormal_appendicular_skeleto0.88739361
71MP0001542_abnormal_bone_strength0.88065955
72MP0000762_abnormal_tongue_morphology0.87017577
73MP0004185_abnormal_adipocyte_glucose0.86125720
74MP0010030_abnormal_orbit_morphology0.85000692
75MP0003868_abnormal_feces_composition0.84860684
76MP0003283_abnormal_digestive_organ0.83280842
77MP0002877_abnormal_melanocyte_morpholog0.82874245
78MP0000462_abnormal_digestive_system0.81204013
79MP0001614_abnormal_blood_vessel0.80676444
80MP0010352_gastrointestinal_tract_polyps0.79091977
81MP0005409_darkened_coat_color0.77674299
82MP0003959_abnormal_lean_body0.77262735
83MP0004233_abnormal_muscle_weight0.75562725
84MP0002925_abnormal_cardiovascular_devel0.72216395
85MP0006054_spinal_hemorrhage0.72205267
86MP0003942_abnormal_urinary_system0.68379548
87MP0009115_abnormal_fat_cell0.68260082
88MP0002133_abnormal_respiratory_system0.67067797
89MP0005388_respiratory_system_phenotype0.67067797
90MP0001915_intracranial_hemorrhage0.65805360
91MP0009053_abnormal_anal_canal0.62695144
92MP0001348_abnormal_lacrimal_gland0.61751418
93MP0000428_abnormal_craniofacial_morphol0.60855595
94MP0000343_altered_response_to0.60441058
95MP0003045_fibrosis0.60424003
96MP0000163_abnormal_cartilage_morphology0.57344541
97MP0003567_abnormal_fetal_cardiomyocyte0.55961661
98MP0002933_joint_inflammation0.55048537
99MP0003115_abnormal_respiratory_system0.54719409
100MP0002168_other_aberrant_phenotype0.52845087

Predicted human phenotypes

RankGene SetZ-score
1Premature rupture of membranes (HP:0001788)5.45542375
2Protrusio acetabuli (HP:0003179)5.21235086
3Sudden death (HP:0001699)4.71018024
4Ventricular tachycardia (HP:0004756)4.37126368
5Aortic dissection (HP:0002647)4.24146471
6Aortic aneurysm (HP:0004942)4.12451318
7Bundle branch block (HP:0011710)4.01143932
8Atrial fibrillation (HP:0005110)3.98411292
9Type 1 muscle fiber predominance (HP:0003803)3.91687340
10Lipoatrophy (HP:0100578)3.86774931
11Primary atrial arrhythmia (HP:0001692)3.51536188
12Right ventricular cardiomyopathy (HP:0011663)3.45547001
13Increased variability in muscle fiber diameter (HP:0003557)3.42987513
14Vascular tortuosity (HP:0004948)3.39474193
15Supraventricular arrhythmia (HP:0005115)3.39295736
16Supraventricular tachycardia (HP:0004755)3.37352485
17Hyporeflexia of lower limbs (HP:0002600)3.24695145
18Muscle fiber splitting (HP:0003555)3.23582677
19Arterial tortuosity (HP:0005116)3.20465442
20Increased connective tissue (HP:0009025)3.19299555
21Abnormality of the calf musculature (HP:0001430)3.18128100
22Ankle contracture (HP:0006466)3.15681911
23Atrophic scars (HP:0001075)3.12207099
24Cerebral aneurysm (HP:0004944)3.08770208
25Soft skin (HP:0000977)3.06576516
26Spinal rigidity (HP:0003306)2.99990606
27Fragile skin (HP:0001030)2.94133034
28Mitral valve prolapse (HP:0001634)2.91824282
29Abnormality of skeletal muscle fiber size (HP:0012084)2.90708572
30Mildly elevated creatine phosphokinase (HP:0008180)2.90077631
31Abnormal atrioventricular conduction (HP:0005150)2.83088115
32Dilated cardiomyopathy (HP:0001644)2.78622214
33Bladder diverticulum (HP:0000015)2.76305961
34Subaortic stenosis (HP:0001682)2.76050070
35Abnormality of the left ventricular outflow tract (HP:0011103)2.76050070
36Atrioventricular block (HP:0001678)2.72410930
37Heart block (HP:0012722)2.70520061
38Round ear (HP:0100830)2.68023483
39Wormian bones (HP:0002645)2.67853251
40Broad metatarsal (HP:0001783)2.66321373
41Asymmetric septal hypertrophy (HP:0001670)2.65543642
42Shallow orbits (HP:0000586)2.65135971
43Dilatation of the ascending aorta (HP:0005111)2.63882795
44Aneurysm (HP:0002617)2.60926250
45Syncope (HP:0001279)2.56215227
46Hip contracture (HP:0003273)2.53668620
47Bradycardia (HP:0001662)2.52394394
48Cervical subluxation (HP:0003308)2.46747656
49Limited hip movement (HP:0008800)2.45478803
50Ventricular arrhythmia (HP:0004308)2.43127638
51Pulmonary artery stenosis (HP:0004415)2.41391006
52Neonatal short-limb short stature (HP:0008921)2.39265234
53Distal lower limb muscle weakness (HP:0009053)2.35835110
54Overgrowth (HP:0001548)2.34525268
55Vertebral compression fractures (HP:0002953)2.29247595
56Follicular hyperkeratosis (HP:0007502)2.25123300
57Ectopia lentis (HP:0001083)2.24719106
58Osteolytic defects of the hand bones (HP:0009699)2.24426926
59Osteolytic defects of the phalanges of the hand (HP:0009771)2.24426926
60Mitral stenosis (HP:0001718)2.24183772
61Wide anterior fontanel (HP:0000260)2.20542083
62Blue sclerae (HP:0000592)2.16095025
63Neck muscle weakness (HP:0000467)2.11509441
64Genu recurvatum (HP:0002816)2.10778419
65Scapular winging (HP:0003691)2.09924251
66Hypoplasia of the iris (HP:0007676)2.09069858
67Distal lower limb amyotrophy (HP:0008944)2.08559251
68Mitral regurgitation (HP:0001653)2.04388061
69Infantile muscular hypotonia (HP:0008947)2.04081099
70Abnormality of dentin (HP:0010299)2.02851466
71EMG: myopathic abnormalities (HP:0003458)2.01620185
72Difficulty running (HP:0009046)2.01473431
73Distal arthrogryposis (HP:0005684)2.01402908
74Hyperextensible skin (HP:0000974)2.00731049
75Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)1.97551953
76Knee flexion contracture (HP:0006380)1.96745836
77Peritonitis (HP:0002586)1.96350253
78Prolonged QT interval (HP:0001657)1.95312350
79Bowel diverticulosis (HP:0005222)1.91142736
80Abnormal delivery (HP:0001787)1.88405314
81Joint laxity (HP:0001388)1.87960328
82Calf muscle hypertrophy (HP:0008981)1.87304723
83Difficulty climbing stairs (HP:0003551)1.86481450
84Centrally nucleated skeletal muscle fibers (HP:0003687)1.86291460
85Wrist flexion contracture (HP:0001239)1.85003189
86Ulnar bowing (HP:0003031)1.82953947
87Aplasia of the musculature (HP:0100854)1.82523058
88Slender build (HP:0001533)1.82510371
89Disproportionate tall stature (HP:0001519)1.82294977
90Palpitations (HP:0001962)1.81993022
91Ulnar deviation of the wrist (HP:0003049)1.80717997
92Gowers sign (HP:0003391)1.80519953
93Lymphangioma (HP:0100764)1.79335430
94Biconcave vertebral bodies (HP:0004586)1.76465599
95Oligomenorrhea (HP:0000876)1.75409500
96Skin nodule (HP:0200036)1.73994463
97Spondylolisthesis (HP:0003302)1.73866753
98Muscle fiber inclusion bodies (HP:0100299)1.73700954
99Lower limb amyotrophy (HP:0007210)1.73616541
100Striae distensae (HP:0001065)1.73089552

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MYLK4.90970159
2TTN3.64973872
3PDGFRA3.25147300
4RIPK13.12927248
5OBSCN2.86529200
6DMPK2.83741701
7DDR22.83116244
8LATS22.61949117
9LATS12.42912466
10PKN22.28506488
11NEK92.28191815
12TRIB32.14594615
13TRPM71.90680651
14PTK21.86141828
15STK38L1.76846797
16TGFBR21.69137439
17EPHB21.67888144
18PAK21.66688174
19MUSK1.64357684
20AKT31.60353200
21ICK1.56549202
22NTRK11.47043322
23FLT31.46789930
24EEF2K1.43427799
25PIK3CG1.42577570
26LMTK21.39443091
27PIK3CA1.36988142
28LIMK11.36144810
29MET1.30248870
30CDC42BPA1.27350738
31PDGFRB1.18976103
32SMG11.18245370
33TESK11.15844446
34PRKAA21.15768928
35STK381.14559584
36ROCK11.12333255
37MAP3K61.11581056
38PAK41.11544041
39CAMK11.10335212
40TIE11.05398097
41MOS1.04952625
42DAPK31.04624995
43MAPKAPK31.01212854
44MTOR0.97475253
45ERBB40.97234866
46MAPK120.94601595
47GRK70.90008560
48CDK120.88863407
49MARK10.87924588
50PRKD10.87590119
51CAMK2D0.84014334
52SIK10.82672408
53MAPK70.82067752
54MAPK40.79737263
55WNK10.77803051
56FGFR40.76027724
57PRKAA10.75972555
58EPHB10.74131604
59MAP3K50.73104626
60PRKD20.72360115
61ROCK20.70427209
62RET0.69580231
63FER0.69398886
64STK240.68596571
65RPS6KA20.65488949
66ILK0.64579290
67MAP3K70.63726391
68EPHA30.63265327
69ABL20.62541472
70GSK3A0.62388539
71MAP2K10.61364509
72PAK30.58941503
73MELK0.56658911
74CAMK1G0.55962888
75CDK60.53859538
76KSR20.52500293
77STK30.50155337
78CAMK2G0.49624179
79ERN10.46866228
80MARK20.46642312
81PRKCE0.44643062
82CAMK2A0.42860441
83PAK60.42675198
84CAMK2B0.42436910
85CDK90.41587119
86ARAF0.38684373
87CAMK40.38288401
88PTK60.37108874
89CAMK1D0.36544622
90PRKACG0.36099432
91GRK50.35676320
92AKT20.35671494
93ADRBK10.35368552
94PRPF4B0.29987272
95MAPK100.29064148
96PRKG10.26985241
97SGK30.26810215
98RPS6KL10.25696814
99RPS6KC10.25696814
100SRC0.25400259

Predicted pathways (KEGG)

RankGene SetZ-score
1Dilated cardiomyopathy_Homo sapiens_hsa054144.02967882
2Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054103.75703406
3ECM-receptor interaction_Homo sapiens_hsa045123.43913263
4Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054123.17360772
5Focal adhesion_Homo sapiens_hsa045102.63628416
6Regulation of lipolysis in adipocytes_Homo sapiens_hsa049232.29748610
7PPAR signaling pathway_Homo sapiens_hsa033201.97259208
8Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.81773348
9Protein digestion and absorption_Homo sapiens_hsa049741.81640756
10Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.80667908
11Adherens junction_Homo sapiens_hsa045201.69898494
12Amoebiasis_Homo sapiens_hsa051461.56375178
13Cardiac muscle contraction_Homo sapiens_hsa042601.47509030
14cGMP-PKG signaling pathway_Homo sapiens_hsa040221.42040608
15Phenylalanine metabolism_Homo sapiens_hsa003601.39146539
16Proteoglycans in cancer_Homo sapiens_hsa052051.38095794
172-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.36434631
18Tight junction_Homo sapiens_hsa045301.32455581
19Vascular smooth muscle contraction_Homo sapiens_hsa042701.28041653
20Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.26900601
21Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.24062344
22Regulation of actin cytoskeleton_Homo sapiens_hsa048101.22708969
23Renin secretion_Homo sapiens_hsa049241.21831704
24Small cell lung cancer_Homo sapiens_hsa052221.21562327
25Complement and coagulation cascades_Homo sapiens_hsa046101.17839139
26Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.15058957
27Thyroid hormone signaling pathway_Homo sapiens_hsa049191.11984442
28AMPK signaling pathway_Homo sapiens_hsa041521.11436450
29Fatty acid degradation_Homo sapiens_hsa000711.07905614
30Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.04982071
31Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.04568080
32AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.01311359
33Pyruvate metabolism_Homo sapiens_hsa006200.99332404
34Adipocytokine signaling pathway_Homo sapiens_hsa049200.97723133
35Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.96498107
36Bile secretion_Homo sapiens_hsa049760.95908858
37Aldosterone synthesis and secretion_Homo sapiens_hsa049250.95787777
38Prion diseases_Homo sapiens_hsa050200.95043887
39Hippo signaling pathway_Homo sapiens_hsa043900.94938982
40TGF-beta signaling pathway_Homo sapiens_hsa043500.93484404
41Gap junction_Homo sapiens_hsa045400.91044001
42PI3K-Akt signaling pathway_Homo sapiens_hsa041510.90806628
43Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.90640359
44Fatty acid biosynthesis_Homo sapiens_hsa000610.90582796
45Longevity regulating pathway - mammal_Homo sapiens_hsa042110.90013259
46Insulin signaling pathway_Homo sapiens_hsa049100.89650643
47Lysine degradation_Homo sapiens_hsa003100.85971817
48Melanogenesis_Homo sapiens_hsa049160.83868670
49Tyrosine metabolism_Homo sapiens_hsa003500.81751003
50cAMP signaling pathway_Homo sapiens_hsa040240.81590004
51Central carbon metabolism in cancer_Homo sapiens_hsa052300.80253141
52Phospholipase D signaling pathway_Homo sapiens_hsa040720.77739371
53Circadian rhythm_Homo sapiens_hsa047100.77594008
54Ovarian steroidogenesis_Homo sapiens_hsa049130.77407223
55Insulin resistance_Homo sapiens_hsa049310.77396783
56Glucagon signaling pathway_Homo sapiens_hsa049220.75410769
57Leukocyte transendothelial migration_Homo sapiens_hsa046700.74948457
58Oxytocin signaling pathway_Homo sapiens_hsa049210.74775166
59Melanoma_Homo sapiens_hsa052180.74207337
60Basal cell carcinoma_Homo sapiens_hsa052170.72556114
61MicroRNAs in cancer_Homo sapiens_hsa052060.72174739
62Glycerolipid metabolism_Homo sapiens_hsa005610.70548139
63Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.69334380
64Endometrial cancer_Homo sapiens_hsa052130.69255505
65Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.69166189
66Glioma_Homo sapiens_hsa052140.68478979
67Pathways in cancer_Homo sapiens_hsa052000.66352002
68Axon guidance_Homo sapiens_hsa043600.63545034
69Chronic myeloid leukemia_Homo sapiens_hsa052200.62796326
70beta-Alanine metabolism_Homo sapiens_hsa004100.61342909
71GnRH signaling pathway_Homo sapiens_hsa049120.60160655
72Fatty acid metabolism_Homo sapiens_hsa012120.59572050
73Propanoate metabolism_Homo sapiens_hsa006400.59333714
74Carbon metabolism_Homo sapiens_hsa012000.59298771
75Calcium signaling pathway_Homo sapiens_hsa040200.57737184
76Rap1 signaling pathway_Homo sapiens_hsa040150.57527976
77Gastric acid secretion_Homo sapiens_hsa049710.56831658
78Bladder cancer_Homo sapiens_hsa052190.52902902
79Hedgehog signaling pathway_Homo sapiens_hsa043400.52796129
80Arginine biosynthesis_Homo sapiens_hsa002200.51699518
81Thyroid cancer_Homo sapiens_hsa052160.51050877
82Insulin secretion_Homo sapiens_hsa049110.50536704
83Estrogen signaling pathway_Homo sapiens_hsa049150.50507283
84Thyroid hormone synthesis_Homo sapiens_hsa049180.50401326
85Platelet activation_Homo sapiens_hsa046110.49533222
86Renal cell carcinoma_Homo sapiens_hsa052110.48998173
87Glycosaminoglycan degradation_Homo sapiens_hsa005310.46472017
88Malaria_Homo sapiens_hsa051440.46270156
89Circadian entrainment_Homo sapiens_hsa047130.45704875
90Histidine metabolism_Homo sapiens_hsa003400.45321927
91Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.45266944
92Pancreatic secretion_Homo sapiens_hsa049720.44661305
93Long-term potentiation_Homo sapiens_hsa047200.44556296
94Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.43859117
95Prostate cancer_Homo sapiens_hsa052150.43155264
96Pancreatic cancer_Homo sapiens_hsa052120.42231676
97Wnt signaling pathway_Homo sapiens_hsa043100.40846603
98Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.40714431
99Dorso-ventral axis formation_Homo sapiens_hsa043200.37965733
100Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.36986794

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