AMOTL1

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 a peripheral membrane protein that is a component of tight junctions or TJs. TJs form an apical junctional structure and act to control paracellular permeability and maintain cell polarity. This protein is related to angiomotin, an angiostatin binding protein that regulates endothelial cell migration and capillary formation. Two transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1plasma membrane repair (GO:0001778)5.37474034
2muscle filament sliding (GO:0030049)5.08295017
3actin-myosin filament sliding (GO:0033275)5.08295017
4actin-mediated cell contraction (GO:0070252)4.52954252
5regulation of skeletal muscle contraction (GO:0014819)4.52914724
6hemidesmosome assembly (GO:0031581)4.04662765
7desmosome organization (GO:0002934)3.75954285
8actin filament-based movement (GO:0030048)3.70490532
9sarcomere organization (GO:0045214)3.68554877
10cardiac myofibril assembly (GO:0055003)3.55654559
11positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)3.53600725
12regulation of transforming growth factor beta2 production (GO:0032909)3.51316519
13myofibril assembly (GO:0030239)3.46734222
14collagen fibril organization (GO:0030199)3.44323060
15metanephric mesenchyme development (GO:0072075)3.32382788
16negative regulation of chondrocyte differentiation (GO:0032331)3.31220431
17neuron projection extension involved in neuron projection guidance (GO:1902284)3.30201669
18axon extension involved in axon guidance (GO:0048846)3.30201669
19planar cell polarity pathway involved in neural tube closure (GO:0090179)3.29086403
20insulin-like growth factor receptor signaling pathway (GO:0048009)3.24120318
21skeletal muscle contraction (GO:0003009)3.22347368
22chondrocyte proliferation (GO:0035988)3.19427082
23paraxial mesoderm development (GO:0048339)3.14885837
24regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.13001127
25muscle cell fate commitment (GO:0042693)3.12153087
26negative regulation of potassium ion transmembrane transporter activity (GO:1901017)3.11456837
27kidney mesenchyme development (GO:0072074)3.07553294
28negative regulation of fatty acid transport (GO:2000192)3.07268050
29adherens junction assembly (GO:0034333)3.06737983
30lymph vessel development (GO:0001945)3.05577161
31lymphangiogenesis (GO:0001946)3.02533966
32protein heterotrimerization (GO:0070208)3.02130331
33myoblast fusion (GO:0007520)3.00034304
34actomyosin structure organization (GO:0031032)3.00030263
35focal adhesion assembly (GO:0048041)2.99540124
36cell-substrate adherens junction assembly (GO:0007045)2.99540124
37* hippo signaling (GO:0035329)2.96277849
38cell migration involved in heart development (GO:0060973)2.95407771
39outer ear morphogenesis (GO:0042473)2.94800422
40vascular endothelial growth factor signaling pathway (GO:0038084)2.94150490
41regulation of cardioblast proliferation (GO:0003264)2.89609498
42regulation of secondary heart field cardioblast proliferation (GO:0003266)2.89609498
43bundle of His cell to Purkinje myocyte communication (GO:0086069)2.86313340
44negative regulation of cartilage development (GO:0061037)2.85771351
45regulation of heart morphogenesis (GO:2000826)2.85599689
46glomerular basement membrane development (GO:0032836)2.85526213
47sequestering of extracellular ligand from receptor (GO:0035581)2.84740400
48regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.83241447
49cell-substrate junction assembly (GO:0007044)2.82913235
50renal filtration (GO:0097205)2.82166931
51mesenchyme morphogenesis (GO:0072132)2.81194095
52negative regulation of catenin import into nucleus (GO:0035414)2.80578436
53retina vasculature morphogenesis in camera-type eye (GO:0061299)2.76912736
54cell adhesion mediated by integrin (GO:0033627)2.75037245
55negative regulation of potassium ion transmembrane transport (GO:1901380)2.74796597
56negative regulation of keratinocyte proliferation (GO:0010839)2.74126802
57bone trabecula formation (GO:0060346)2.72194492
58sarcoplasmic reticulum calcium ion transport (GO:0070296)2.72100138
59skeletal muscle fiber development (GO:0048741)2.71738567
60regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)2.69301187
61endocardial cushion morphogenesis (GO:0003203)2.67898225
62chondrocyte development (GO:0002063)2.67493806
63convergent extension (GO:0060026)2.65163619
64syncytium formation (GO:0006949)2.64923091
65positive regulation of glycogen biosynthetic process (GO:0045725)2.64386399
66cell migration involved in sprouting angiogenesis (GO:0002042)2.64175363
67Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.63028227
68syncytium formation by plasma membrane fusion (GO:0000768)2.62664601
69striated muscle contraction (GO:0006941)2.62474103
70epithelial cell-cell adhesion (GO:0090136)2.61507089
71nuclear pore complex assembly (GO:0051292)2.61343096
72embryonic cranial skeleton morphogenesis (GO:0048701)2.61219040
73endodermal cell differentiation (GO:0035987)2.60164019
74polarized epithelial cell differentiation (GO:0030859)2.59388561
75positive regulation of mesenchymal cell proliferation (GO:0002053)2.59083430
76negative regulation of axon extension involved in axon guidance (GO:0048843)2.57285474
77regulation of establishment of planar polarity (GO:0090175)2.57122041
78regulation of axon extension involved in axon guidance (GO:0048841)2.56312502
79response to muscle activity (GO:0014850)2.55802735
80mesenchymal-epithelial cell signaling (GO:0060638)2.55496399
81basement membrane organization (GO:0071711)2.55269856
82dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.55260530
83G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071992.54284991
84cytoskeletal anchoring at plasma membrane (GO:0007016)2.53833539
85glomerular filtration (GO:0003094)2.52758754
86heart trabecula formation (GO:0060347)2.49264168
87regulation of mesenchymal cell proliferation (GO:0010464)2.48713159
88organ induction (GO:0001759)2.48431820
89cochlea morphogenesis (GO:0090103)2.48124857
90muscle contraction (GO:0006936)2.47790048
91regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)2.47146030
92heart morphogenesis (GO:0003007)2.46809585
93atrioventricular valve morphogenesis (GO:0003181)2.46648234
94trabecula formation (GO:0060343)2.45648034
95regulation of p38MAPK cascade (GO:1900744)2.45645495
96cell proliferation involved in metanephros development (GO:0072203)2.45262083
97cartilage development involved in endochondral bone morphogenesis (GO:0060351)2.44988908
98regulation of chondrocyte differentiation (GO:0032330)2.44434747
99branching involved in salivary gland morphogenesis (GO:0060445)2.44348850
100non-canonical Wnt signaling pathway (GO:0035567)2.44238286
101skeletal muscle adaptation (GO:0043501)2.42786094
102skin morphogenesis (GO:0043589)2.42698120
103regulation of tight junction assembly (GO:2000810)2.42542957
104glomerulus development (GO:0032835)2.42538289
105negative regulation of embryonic development (GO:0045992)2.41989950
106artery development (GO:0060840)2.41963000
107protein hydroxylation (GO:0018126)2.41675545
108gap junction assembly (GO:0016264)2.41362711
109muscle cell migration (GO:0014812)2.40949446
110notochord development (GO:0030903)2.40818514
111regulation of cartilage development (GO:0061035)2.40206806
112keratinocyte proliferation (GO:0043616)2.40027503
113regulation of cell proliferation involved in heart morphogenesis (GO:2000136)2.39815970
114heart valve morphogenesis (GO:0003179)2.39273393
115endothelial cell morphogenesis (GO:0001886)2.39175547
116fibroblast migration (GO:0010761)2.38864680
117cellular response to vascular endothelial growth factor stimulus (GO:0035924)2.38854522
118collagen metabolic process (GO:0032963)2.38591041
119cardiac muscle cell proliferation (GO:0060038)2.38510412
120myelination in peripheral nervous system (GO:0022011)2.38412511
121peripheral nervous system axon ensheathment (GO:0032292)2.38412511
122regulation of cardioblast differentiation (GO:0051890)2.38274609
123ganglion development (GO:0061548)2.35652947
124regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.34986313
125regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)2.33403889
126response to stimulus involved in regulation of muscle adaptation (GO:0014874)2.32930433
127morphogenesis of an epithelial sheet (GO:0002011)2.31436071
128establishment of tissue polarity (GO:0007164)2.25230413
129establishment of planar polarity (GO:0001736)2.25230413
130nuclear pore organization (GO:0006999)2.23956878
131cardiac cell development (GO:0055006)2.23081483
132mesodermal cell differentiation (GO:0048333)2.22823532
133mitotic chromosome condensation (GO:0007076)2.22237642
134cardiac muscle cell development (GO:0055013)2.21475953
135regulation of NFAT protein import into nucleus (GO:0051532)2.20851194
136cardiac muscle hypertrophy (GO:0003300)2.19835893
137coronary vasculature morphogenesis (GO:0060977)2.18699427
138neural crest cell development (GO:0014032)2.18607943
139response to inactivity (GO:0014854)2.17361184
140negative regulation of stem cell proliferation (GO:2000647)2.15356606
141embryonic foregut morphogenesis (GO:0048617)2.14727890
142substrate-dependent cell migration (GO:0006929)2.14350819
143protein localization to cell surface (GO:0034394)2.13985261
144cell junction assembly (GO:0034329)2.13845475

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human5.35915937
2TRIM28_21343339_ChIP-Seq_HEK293_Human3.92431428
3RARG_19884340_ChIP-ChIP_MEFs_Mouse2.89354702
4EP300_21415370_ChIP-Seq_HL-1_Mouse2.51154324
5CLOCK_20551151_ChIP-Seq_293T_Human2.27368206
6AR_21909140_ChIP-Seq_LNCAP_Human2.21402414
7E2F7_22180533_ChIP-Seq_HELA_Human2.20100691
8ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.19236713
9ESR1_20079471_ChIP-ChIP_T-47D_Human2.18105773
10ESR1_21235772_ChIP-Seq_MCF-7_Human2.09501337
11TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.08702252
12EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.07846243
13PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.06774092
14CDX2_19796622_ChIP-Seq_MESCs_Mouse1.98113225
15WT1_19549856_ChIP-ChIP_CCG9911_Human1.92586716
16* CJUN_26792858_Chip-Seq_BT549_Human1.87556053
17* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.86926011
18ESR2_21235772_ChIP-Seq_MCF-7_Human1.86382198
19ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.84324735
20EED_16625203_ChIP-ChIP_MESCs_Mouse1.79817801
21EZH2_18974828_ChIP-Seq_MESCs_Mouse1.79815871
22RNF2_18974828_ChIP-Seq_MESCs_Mouse1.79815871
23PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.77812607
24WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.75895371
25STAT6_21828071_ChIP-Seq_BEAS2B_Human1.75709686
26SOX9_24532713_ChIP-Seq_HFSC_Mouse1.74480143
27RBPJ_22232070_ChIP-Seq_NCS_Mouse1.73855357
28GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.72184792
29TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.71364748
30FOXM1_23109430_ChIP-Seq_U2OS_Human1.69844291
31NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.69676635
32SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.67086042
33CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.63215664
34TBX20_22080862_ChIP-Seq_HEART_Mouse1.61377223
35TBX20_22328084_ChIP-Seq_HEART_Mouse1.61377223
36SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.61015994
37HIF1A_21447827_ChIP-Seq_MCF-7_Human1.60489788
38TP53_20018659_ChIP-ChIP_R1E_Mouse1.56899239
39SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.55509441
40EZH2_27304074_Chip-Seq_ESCs_Mouse1.54116753
41CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.51214656
42* ISL1_27105846_Chip-Seq_CPCs_Mouse1.50563488
43RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.49241472
44AHR_22903824_ChIP-Seq_MCF-7_Human1.48363707
45PPAR_26484153_Chip-Seq_NCI-H1993_Human1.46048058
46* TP53_18474530_ChIP-ChIP_U2OS_Human1.44846250
47HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.43752338
48SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.42411142
49TCF4_18268006_ChIP-ChIP_LS174T_Human1.42033888
50PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.41948864
51SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.40984529
52JARID2_20075857_ChIP-Seq_MESCs_Mouse1.40603238
53BRD4_25478319_ChIP-Seq_HGPS_Human1.39092126
54ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.37143658
55TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.36373168
56SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.33842064
57RNF2_27304074_Chip-Seq_ESCs_Mouse1.32352581
58CTNNB1_20460455_ChIP-Seq_HCT116_Human1.32146759
59RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.31588225
60SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.29016677
61AR_21572438_ChIP-Seq_LNCaP_Human1.28589395
62NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.27297549
63NRF2_20460467_ChIP-Seq_MEFs_Mouse1.27297549
64ARNT_22903824_ChIP-Seq_MCF-7_Human1.27239487
65TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.26051015
66* SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.25040516
67* SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.25040516
68NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.24854883
69TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.24767712
70WT1_25993318_ChIP-Seq_PODOCYTE_Human1.24420381
71YAP1_20516196_ChIP-Seq_MESCs_Mouse1.22013883
72SMAD_19615063_ChIP-ChIP_OVARY_Human1.21094234
73BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.19562352
74MTF2_20144788_ChIP-Seq_MESCs_Mouse1.18975168
75TP53_16413492_ChIP-PET_HCT116_Human1.17595873
76KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.17378256
77JARID2_20064375_ChIP-Seq_MESCs_Mouse1.17194186
78SALL1_21062744_ChIP-ChIP_HESCs_Human1.17144265
79CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.17047171
80MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.15824348
81DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.15661859
82SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.15519700
83BCAT_22108803_ChIP-Seq_LS180_Human1.15324394
84* PIAS1_25552417_ChIP-Seq_VCAP_Human1.15200062
85ZFP281_18757296_ChIP-ChIP_E14_Mouse1.14393789
86ZNF263_19887448_ChIP-Seq_K562_Human1.13327414
87FOXO3_23340844_ChIP-Seq_DLD1_Human1.11553856
88TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.10643020
89ZFP281_27345836_Chip-Seq_ESCs_Mouse1.09066325
90* UBF1/2_26484160_Chip-Seq_HMECs_Human1.08289750
91NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.07864236
92EZH2_27294783_Chip-Seq_ESCs_Mouse1.07501141
93RXR_22108803_ChIP-Seq_LS180_Human1.07349643
94KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.06622359
95KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.06183104
96P300_27058665_Chip-Seq_ZR-75-30cells_Human1.04474438
97SOX2_20726797_ChIP-Seq_SW620_Human1.03287900
98NFIB_24661679_ChIP-Seq_LUNG_Mouse1.03237306
99POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.01955099
100SMAD3_21741376_ChIP-Seq_HESCs_Human1.01179309
101ZNF274_21170338_ChIP-Seq_K562_Hela1.01083545
102* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.00108166
103RING1B_27294783_Chip-Seq_NPCs_Mouse0.99530562
104RING1B_27294783_Chip-Seq_ESCs_Mouse0.99161355
105* TP53_23651856_ChIP-Seq_MEFs_Mouse0.98611794
106STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.97755759
107PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.97358164
108* KDM2B_26808549_Chip-Seq_K562_Human0.97195903
109PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.96962584
110ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.96615457
111SALL4_18804426_ChIP-ChIP_XEN_Mouse0.96549979
112ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.95768021
113ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.95723880
114* PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.95170336
115UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.94766536
116* FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human0.94599966
117NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.94471737
118SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.94365183
119SUZ12_27294783_Chip-Seq_ESCs_Mouse0.93903997
120SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.92991316
121PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.92963320
122TBX3_20139965_ChIP-Seq_ESCs_Mouse0.91880491

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen3.95848149
2MP0005275_abnormal_skin_tensile3.67396967
3MP0004272_abnormal_basement_membrane2.98770113
4MP0000751_myopathy2.89534299
5MP0003705_abnormal_hypodermis_morpholog2.88573941
6MP0005503_abnormal_tendon_morphology2.84695576
7MP0010030_abnormal_orbit_morphology2.60127049
8MP0004145_abnormal_muscle_electrophysio2.56717558
9MP0000749_muscle_degeneration2.48670278
10MP0002837_dystrophic_cardiac_calcinosis2.36043828
11MP0005623_abnormal_meninges_morphology2.20327116
12MP0000733_abnormal_muscle_development2.12516379
13MP0003941_abnormal_skin_development2.06050106
14MP0004084_abnormal_cardiac_muscle2.04544676
15MP0002108_abnormal_muscle_morphology1.98420374
16MP0009250_abnormal_appendicular_skeleto1.97030344
17MP0000750_abnormal_muscle_regeneration1.95620127
18MP0004087_abnormal_muscle_fiber1.91509129
19MP0003279_aneurysm1.86132017
20MP0004036_abnormal_muscle_relaxation1.83266754
21MP0003385_abnormal_body_wall1.79996033
22MP0000759_abnormal_skeletal_muscle1.78681638
23MP0000537_abnormal_urethra_morphology1.67834076
24MP0000762_abnormal_tongue_morphology1.66707876
25MP0010368_abnormal_lymphatic_system1.65017442
26MP0010234_abnormal_vibrissa_follicle1.63976753
27MP0003122_maternal_imprinting1.63046751
28MP0004233_abnormal_muscle_weight1.62426116
29MP0005620_abnormal_muscle_contractility1.62239670
30MP0000013_abnormal_adipose_tissue1.59842249
31MP0005409_darkened_coat_color1.58686845
32MP0001299_abnormal_eye_distance/1.58408920
33MP0002106_abnormal_muscle_physiology1.57440111
34MP0005369_muscle_phenotype1.56701961
35MP0003566_abnormal_cell_adhesion1.54795596
36MP0000534_abnormal_ureter_morphology1.53442477
37MP0009053_abnormal_anal_canal1.52473599
38MP0002060_abnormal_skin_morphology1.52061088
39MP0003942_abnormal_urinary_system1.48239992
40MP0010352_gastrointestinal_tract_polyps1.46590593
41MP0000747_muscle_weakness1.45356693
42MP0005508_abnormal_skeleton_morphology1.45101386
43MP0005670_abnormal_white_adipose1.36594070
44MP0004130_abnormal_muscle_cell1.36415984
45MP0001879_abnormal_lymphatic_vessel1.36408815
46MP0003646_muscle_fatigue1.34656551
47MP0005330_cardiomyopathy1.34321771
48MP0000003_abnormal_adipose_tissue1.34199248
49MP0002249_abnormal_larynx_morphology1.32418905
50MP0002269_muscular_atrophy1.30981864
51MP0009384_cardiac_valve_regurgitation1.30604337
52MP0004215_abnormal_myocardial_fiber1.30051209
53MP0002234_abnormal_pharynx_morphology1.29825350
54MP0010630_abnormal_cardiac_muscle1.29504806
55MP0002896_abnormal_bone_mineralization1.28660820
56MP0002972_abnormal_cardiac_muscle1.27800397
57MP0004185_abnormal_adipocyte_glucose1.27188305
58MP0005666_abnormal_adipose_tissue1.26488505
59MP0000467_abnormal_esophagus_morphology1.25970719
60MP0006138_congestive_heart_failure1.25922417
61MP0005375_adipose_tissue_phenotype1.25750026
62MP0000516_abnormal_urinary_system1.25387577
63MP0005367_renal/urinary_system_phenotyp1.25387577
64MP0005248_abnormal_Harderian_gland1.25359110
65MP0002877_abnormal_melanocyte_morpholog1.24435416
66MP0009780_abnormal_chondrocyte_physiolo1.23574457
67MP0001958_emphysema1.23039911
68MP0000566_synostosis1.21008590
69MP0004858_abnormal_nervous_system1.20375415
70MP0001661_extended_life_span1.20104775
71MP0003755_abnormal_palate_morphology1.20021304
72MP0002796_impaired_skin_barrier1.19412695
73MP0002697_abnormal_eye_size1.16308842
74MP0002282_abnormal_trachea_morphology1.13939374
75MP0003937_abnormal_limbs/digits/tail_de1.12479751
76MP0000428_abnormal_craniofacial_morphol1.11375975
77MP0000049_abnormal_middle_ear1.10814587
78MP0003935_abnormal_craniofacial_develop1.10702873
79MP0005257_abnormal_intraocular_pressure1.10516221
80MP0000163_abnormal_cartilage_morphology1.10006472
81MP0002932_abnormal_joint_morphology1.09686071
82MP0001346_abnormal_lacrimal_gland1.05106202
83MP0002233_abnormal_nose_morphology1.03666207
84MP0004484_altered_response_of1.02403165
85MP0003115_abnormal_respiratory_system1.00977409
86MP0005385_cardiovascular_system_phenoty1.00827924
87MP0001544_abnormal_cardiovascular_syste1.00827924
88MP0000462_abnormal_digestive_system1.00567273
89MP0004134_abnormal_chest_morphology0.99044178
90MP0003283_abnormal_digestive_organ0.98659392
91MP0000767_abnormal_smooth_muscle0.98284086
92MP0000432_abnormal_head_morphology0.98210259
93MP0001849_ear_inflammation0.98204313
94MP0005187_abnormal_penis_morphology0.96678029
95MP0003828_pulmonary_edema0.95851056
96MP0002115_abnormal_skeleton_extremities0.93232724
97MP0008775_abnormal_heart_ventricle0.92672298
98MP0003091_abnormal_cell_migration0.92114529
99MP0006054_spinal_hemorrhage0.91545771
100MP0005171_absent_coat_pigmentation0.91362717
101MP0000579_abnormal_nail_morphology0.91251539
102MP0005023_abnormal_wound_healing0.90913844
103MP0005076_abnormal_cell_differentiation0.90273251
104MP0002109_abnormal_limb_morphology0.89816391
105MP0003950_abnormal_plasma_membrane0.88968359
106MP0001270_distended_abdomen0.88345749
107MP0002114_abnormal_axial_skeleton0.88128235
108MP0003045_fibrosis0.87865862
109MP0002084_abnormal_developmental_patter0.87554997
110MP0002116_abnormal_craniofacial_bone0.85090698
111MP0009697_abnormal_copulation0.84139765
112MP0002925_abnormal_cardiovascular_devel0.82490511
113MP0010678_abnormal_skin_adnexa0.82324180
114MP0002127_abnormal_cardiovascular_syste0.82285826
115MP0003890_abnormal_embryonic-extraembry0.80387985
116MP0002085_abnormal_embryonic_tissue0.76861937
117MP0005501_abnormal_skin_physiology0.75730975
118MP0005197_abnormal_uvea_morphology0.74491793
119MP0003453_abnormal_keratinocyte_physiol0.73776038
120MP0004197_abnormal_fetal_growth/weight/0.72763942
121MP0002128_abnormal_blood_circulation0.72531290
122MP0002332_abnormal_exercise_endurance0.70525304
123MP0003984_embryonic_growth_retardation0.70080119

Predicted human phenotypes

RankGene SetZ-score
1Type 1 muscle fiber predominance (HP:0003803)5.56779738
2Muscle fiber inclusion bodies (HP:0100299)4.78640118
3Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)4.69861073
4Nemaline bodies (HP:0003798)4.23988175
5Increased connective tissue (HP:0009025)4.13663686
6Distal arthrogryposis (HP:0005684)3.94903010
7Hyporeflexia of lower limbs (HP:0002600)3.84636175
8Round ear (HP:0100830)3.82815361
9Exercise-induced muscle cramps (HP:0003710)3.78846032
10Muscle fiber splitting (HP:0003555)3.78272770
11Protrusio acetabuli (HP:0003179)3.74845169
12Exercise-induced myalgia (HP:0003738)3.72803907
13Difficulty running (HP:0009046)3.46200016
14Premature rupture of membranes (HP:0001788)3.44789210
15Calf muscle hypertrophy (HP:0008981)3.41608378
16Muscle hypertrophy of the lower extremities (HP:0008968)3.35352232
17Abnormality of the calf musculature (HP:0001430)3.29208881
18Right ventricular cardiomyopathy (HP:0011663)3.24292068
19Spinal rigidity (HP:0003306)3.16539080
20Broad metatarsal (HP:0001783)3.16193858
21Increased variability in muscle fiber diameter (HP:0003557)3.02754096
22Mildly elevated creatine phosphokinase (HP:0008180)3.02716580
23Abnormality of skeletal muscle fiber size (HP:0012084)2.99373222
24Shallow orbits (HP:0000586)2.99357778
25Atrophic scars (HP:0001075)2.98886336
26Scapular winging (HP:0003691)2.92761526
27Calcaneovalgus deformity (HP:0001848)2.82480889
28EMG: myopathic abnormalities (HP:0003458)2.80683757
29Myopathic facies (HP:0002058)2.79307920
30Ulnar deviation of the wrist (HP:0003049)2.77736161
31Absent phalangeal crease (HP:0006109)2.75373281
32Sudden death (HP:0001699)2.74290879
33Deformed tarsal bones (HP:0008119)2.74025409
34Hypoplastic ischia (HP:0003175)2.72033115
35Difficulty climbing stairs (HP:0003551)2.70873921
36Cerebral aneurysm (HP:0004944)2.65854834
37Ankle contracture (HP:0006466)2.59233229
38Abnormality of the ischium (HP:0003174)2.53946559
39Hip contracture (HP:0003273)2.47102335
40Aortic aneurysm (HP:0004942)2.46272523
41Follicular hyperkeratosis (HP:0007502)2.46004056
42Subaortic stenosis (HP:0001682)2.41894174
43Abnormality of the left ventricular outflow tract (HP:0011103)2.41894174
44Aortic dissection (HP:0002647)2.41322567
45Ventricular tachycardia (HP:0004756)2.41272405
46Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.38914778
47Mesomelia (HP:0003027)2.36094267
48Fragile skin (HP:0001030)2.34304028
49Myotonia (HP:0002486)2.33090795
50Myoglobinuria (HP:0002913)2.29497549
51Arterial tortuosity (HP:0005116)2.28648033
52Abnormal finger flexion creases (HP:0006143)2.26466477
53Vascular tortuosity (HP:0004948)2.26269898
54Slender build (HP:0001533)2.23291861
55Abnormality of the calcaneus (HP:0008364)2.21997909
56Popliteal pterygium (HP:0009756)2.21135827
57Limited hip movement (HP:0008800)2.19987142
58Ulnar bowing (HP:0003031)2.17185167
59Centrally nucleated skeletal muscle fibers (HP:0003687)2.16406345
60Natal tooth (HP:0000695)2.15867910
61Distal lower limb muscle weakness (HP:0009053)2.15740523
62Tarsal synostosis (HP:0008368)2.11775902
63Bell-shaped thorax (HP:0001591)2.09999721
64Wrist flexion contracture (HP:0001239)2.09831571
65Short nail (HP:0001799)2.04226164
66Malignant hyperthermia (HP:0002047)2.03658856
67Neck muscle weakness (HP:0000467)2.03241976
68Bladder diverticulum (HP:0000015)2.02474402
69Soft skin (HP:0000977)2.02403990
70Short 4th metacarpal (HP:0010044)2.00024803
71Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.00024803
72Lipoatrophy (HP:0100578)1.99916394
73Abnormality of nail color (HP:0100643)1.99169788
74Neonatal short-limb short stature (HP:0008921)1.94369435
75Asymmetry of the thorax (HP:0001555)1.93801971
76Abnormality of the shoulder girdle musculature (HP:0001435)1.93570562
77Hypoplasia of the iris (HP:0007676)1.92791411
78Onycholysis (HP:0001806)1.89744982
79Synostosis involving bones of the feet (HP:0009140)1.88467631
80Synostosis involving bones of the lower limbs (HP:0009138)1.88467631
81Wormian bones (HP:0002645)1.88159876
82Overgrowth (HP:0001548)1.87097322
83Osteolytic defects of the hand bones (HP:0009699)1.85698157
84Osteolytic defects of the phalanges of the hand (HP:0009771)1.85698157
85Limb-girdle muscle weakness (HP:0003325)1.85211642
86Fragile nails (HP:0001808)1.84843614
87Muscle stiffness (HP:0003552)1.84005331
88Distal lower limb amyotrophy (HP:0008944)1.83957456
89Advanced eruption of teeth (HP:0006288)1.83635371
90Selective tooth agenesis (HP:0001592)1.82499975
91Vertebral arch anomaly (HP:0008438)1.81594544
92Abnormality of the 4th metacarpal (HP:0010012)1.81424810
93Mitral valve prolapse (HP:0001634)1.81229121
94Proximal amyotrophy (HP:0007126)1.79682309
95Rectal prolapse (HP:0002035)1.79523090
96Alopecia of scalp (HP:0002293)1.78588819
97Lower limb amyotrophy (HP:0007210)1.78035836
98Cervical subluxation (HP:0003308)1.77181442
99Frequent falls (HP:0002359)1.76791842
100Short hallux (HP:0010109)1.76386753
101Milia (HP:0001056)1.76295991
102Atrial fibrillation (HP:0005110)1.73125233
103Lymphangioma (HP:0100764)1.72004441
104Knee flexion contracture (HP:0006380)1.71796564
105Dilatation of the ascending aorta (HP:0005111)1.70989287
106Abnormality of the neuromuscular junction (HP:0003398)1.69735918
107Fatigable weakness (HP:0003473)1.69735918
108Limb-girdle muscle atrophy (HP:0003797)1.68987966
109Aplasia involving bones of the extremities (HP:0009825)1.68160325
110Aplasia involving bones of the upper limbs (HP:0009823)1.68160325
111Aplasia of the phalanges of the hand (HP:0009802)1.68160325
112Ankyloglossia (HP:0010296)1.67691276
113Coronal craniosynostosis (HP:0004440)1.66526370
114Aneurysm (HP:0002617)1.66516556
115Pterygium (HP:0001059)1.66328013
116Asymmetric septal hypertrophy (HP:0001670)1.65603435
117Abnormality of the distal phalanx of the thumb (HP:0009617)1.62976777
118Abnormality of dentin (HP:0010299)1.62508672
119Muscular dystrophy (HP:0003560)1.61919826
120Thin ribs (HP:0000883)1.61630876
121Pelvic girdle muscle weakness (HP:0003749)1.61619937
122Breech presentation (HP:0001623)1.61562741
123Rimmed vacuoles (HP:0003805)1.61555497
124Rhabdomyolysis (HP:0003201)1.61041300
125Broad face (HP:0000283)1.60792734
126Elbow flexion contracture (HP:0002987)1.60623063
127Laryngomalacia (HP:0001601)1.60196368
128Wide anterior fontanel (HP:0000260)1.59658735
129Hyperacusis (HP:0010780)1.58000975
130Joint laxity (HP:0001388)1.57045893
131Bowel diverticulosis (HP:0005222)1.51814762
132Plantar hyperkeratosis (HP:0007556)1.51362375
133Thick nail (HP:0001805)1.50911323

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TTN4.53366160
2OBSCN4.29759770
3LATS13.52466020
4TRIB33.27385492
5DDR22.67987012
6SIK12.67808298
7PDGFRA2.45743023
8CDK122.33041429
9FER2.26828988
10EPHB22.22570495
11PHKG22.22014943
12PHKG12.22014943
13DMPK2.16934426
14LATS22.14049103
15ICK2.10295036
16RIPK12.07705070
17PKN22.04700068
18PIK3CA1.73148727
19STK38L1.60325416
20CAMK1D1.59971453
21TIE11.59318856
22PIK3CG1.57510709
23LMTK21.42532349
24ERBB41.41551709
25PTK61.41181422
26CAMK1G1.40437285
27PNCK1.34042313
28ERBB31.31962855
29PBK1.30298742
30FGFR11.24612696
31PDK41.22187195
32PDK31.22187195
33FRK1.22041855
34PTK21.19612297
35MAP3K31.19440113
36PDK21.17006193
37PRKD31.14141476
38EPHA31.12774795
39MYLK1.10695104
40NEK91.09938112
41TRPM71.08279896
42ROCK11.07955244
43MET1.06709662
44EPHA21.04920958
45MST1R1.03013602
46FGFR21.02113381
47STK31.01990991
48BRD41.00289422
49PAK21.00082253
50ZAK0.99940941
51BMX0.96984227
52TGFBR20.96212365
53PDGFRB0.96103948
54PAK30.95756752
55MTOR0.94615195
56MAP3K70.89950666
57MAP2K30.89330086
58MARK10.84280775
59PTK2B0.84037582
60NEK10.81882132
61MAPKAPK30.81659991
62MAP3K60.81093323
63MELK0.78601445
64INSRR0.76442327
65ILK0.72777491
66MAP3K90.72389716
67FGFR30.72204778
68PAK40.71903234
69MAP2K10.70953998
70SMG10.70732975
71PLK40.69039150
72WNK10.67409996
73ERN10.67390704
74RET0.66158496
75PRKD10.64618049
76LRRK20.64037727
77FLT30.63601592
78CDC42BPA0.62380338
79TTK0.62012647
80PINK10.61793002
81NME10.61758090
82STK380.60725682
83TGFBR10.60722284
84ARAF0.60258308
85CDK80.58650636
86NEK20.58307346
87CDK60.57029192
88AKT20.56092018
89MUSK0.55482892
90KSR20.53966735
91ROCK20.53878595
92PRKAA20.52598327
93PRKCH0.50078386
94MAPK120.49741351
95PRKAA10.49355453
96WNK40.49048580
97RPS6KB20.46982066
98EPHB10.46668687
99KSR10.46568864
100EEF2K0.46147837
101CDC70.45574136
102CDK70.44615799
103MARK20.44359255
104MAP3K20.43713705
105ERBB20.43435137
106AURKB0.42848045
107WEE10.42057062
108NUAK10.40096880
109MKNK20.40031639
110NTRK10.39783159
111KDR0.39760684
112PLK20.39544068
113SCYL20.38944512
114PRKD20.38773534
115GSK3A0.38574075
116CHEK10.37773715
117MAPK100.37429533
118MAP2K40.37236841
119RAF10.37201611
120RPS6KA20.37167091
121STK240.36985071
122LIMK10.36295111
123AKT30.36006614
124SGK4940.35765983
125SGK2230.35765983
126SGK30.35389298
127CDK90.35201276
128MAP3K100.34700997
129TESK10.34326161
130PRKCE0.34206972
131DYRK1B0.33596801
132BRAF0.33001963
133CAMK2G0.31857990
134MOS0.31282921
135ADRBK10.29592757
136SRC0.29024805
137INSR0.29004499
138IGF1R0.26180266

Predicted pathways (KEGG)

RankGene SetZ-score
1Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054123.21231609
2Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054103.16238604
3ECM-receptor interaction_Homo sapiens_hsa045123.11194179
4Dilated cardiomyopathy_Homo sapiens_hsa054143.04504242
5Focal adhesion_Homo sapiens_hsa045102.51199075
6Adherens junction_Homo sapiens_hsa045202.42265883
7Basal cell carcinoma_Homo sapiens_hsa052172.21950975
8Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.02261480
9Hippo signaling pathway_Homo sapiens_hsa043901.96820192
10Proteoglycans in cancer_Homo sapiens_hsa052051.94662971
11Hedgehog signaling pathway_Homo sapiens_hsa043401.73749915
12* Tight junction_Homo sapiens_hsa045301.71864678
13Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.70487192
14Protein digestion and absorption_Homo sapiens_hsa049741.62321403
15TGF-beta signaling pathway_Homo sapiens_hsa043501.50245513
16Amoebiasis_Homo sapiens_hsa051461.46388382
17Cardiac muscle contraction_Homo sapiens_hsa042601.44997160
18Small cell lung cancer_Homo sapiens_hsa052221.41028827
19Insulin resistance_Homo sapiens_hsa049311.37678577
20Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.37295989
21Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.36525027
22Viral myocarditis_Homo sapiens_hsa054161.36298057
23Melanogenesis_Homo sapiens_hsa049161.36296337
24Insulin signaling pathway_Homo sapiens_hsa049101.32454383
25Glucagon signaling pathway_Homo sapiens_hsa049221.29685454
26AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.28592236
27Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.27213185
28Wnt signaling pathway_Homo sapiens_hsa043101.22391466
29Fatty acid biosynthesis_Homo sapiens_hsa000611.20824802
30AMPK signaling pathway_Homo sapiens_hsa041521.20762108
31Bladder cancer_Homo sapiens_hsa052191.19826990
32Melanoma_Homo sapiens_hsa052181.19250278
33MicroRNAs in cancer_Homo sapiens_hsa052061.17428202
34Axon guidance_Homo sapiens_hsa043601.16263478
35Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.15663838
36Central carbon metabolism in cancer_Homo sapiens_hsa052301.12934914
37Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.12475310
38PI3K-Akt signaling pathway_Homo sapiens_hsa041511.10870613
39cGMP-PKG signaling pathway_Homo sapiens_hsa040221.09686294
40Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.06901483
41Prostate cancer_Homo sapiens_hsa052151.06355186
42Endometrial cancer_Homo sapiens_hsa052131.02584581
43Oxytocin signaling pathway_Homo sapiens_hsa049211.00930692
44Longevity regulating pathway - mammal_Homo sapiens_hsa042111.00009628
45Pathways in cancer_Homo sapiens_hsa052000.99672703
46Thyroid hormone signaling pathway_Homo sapiens_hsa049190.98844329
47Chronic myeloid leukemia_Homo sapiens_hsa052200.98595483
482-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.97338817
49Adipocytokine signaling pathway_Homo sapiens_hsa049200.95925137
50Vascular smooth muscle contraction_Homo sapiens_hsa042700.94096524
51Circadian rhythm_Homo sapiens_hsa047100.93750804
52Glioma_Homo sapiens_hsa052140.93071798
53Regulation of actin cytoskeleton_Homo sapiens_hsa048100.92015717
54Renin secretion_Homo sapiens_hsa049240.91849081
55Renal cell carcinoma_Homo sapiens_hsa052110.89114297
56Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.89029632
57Estrogen signaling pathway_Homo sapiens_hsa049150.88801363
58Thyroid cancer_Homo sapiens_hsa052160.88474776
59Rap1 signaling pathway_Homo sapiens_hsa040150.88244430
60Cell cycle_Homo sapiens_hsa041100.86883096
61HIF-1 signaling pathway_Homo sapiens_hsa040660.86057254
62Notch signaling pathway_Homo sapiens_hsa043300.85983804
63mTOR signaling pathway_Homo sapiens_hsa041500.85919365
64Leukocyte transendothelial migration_Homo sapiens_hsa046700.83620488
65Propanoate metabolism_Homo sapiens_hsa006400.81920433
66Gap junction_Homo sapiens_hsa045400.81715762
67FoxO signaling pathway_Homo sapiens_hsa040680.79707789
68GnRH signaling pathway_Homo sapiens_hsa049120.78777244
69Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.76654685
70Type II diabetes mellitus_Homo sapiens_hsa049300.74015414
71Starch and sucrose metabolism_Homo sapiens_hsa005000.72636312
72Gastric acid secretion_Homo sapiens_hsa049710.71807489
73Dorso-ventral axis formation_Homo sapiens_hsa043200.71582940
74Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.70132227
75p53 signaling pathway_Homo sapiens_hsa041150.68576191
76Biosynthesis of amino acids_Homo sapiens_hsa012300.68124448
77Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.66705672
78Calcium signaling pathway_Homo sapiens_hsa040200.65153274
79Insulin secretion_Homo sapiens_hsa049110.64682722
80Pyruvate metabolism_Homo sapiens_hsa006200.63342144
81Fatty acid metabolism_Homo sapiens_hsa012120.63301967
82Prion diseases_Homo sapiens_hsa050200.62131831
83Arginine biosynthesis_Homo sapiens_hsa002200.62131162
84HTLV-I infection_Homo sapiens_hsa051660.61753403
85PPAR signaling pathway_Homo sapiens_hsa033200.60238972
86Pancreatic cancer_Homo sapiens_hsa052120.59531181
87Platelet activation_Homo sapiens_hsa046110.59076392
88Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.58015272
89ErbB signaling pathway_Homo sapiens_hsa040120.57604354
90MAPK signaling pathway_Homo sapiens_hsa040100.55940792
91Cocaine addiction_Homo sapiens_hsa050300.55698936
92Aldosterone synthesis and secretion_Homo sapiens_hsa049250.55462262
93Thyroid hormone synthesis_Homo sapiens_hsa049180.54669583
94Lysine degradation_Homo sapiens_hsa003100.54546819
95Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.53813992
96Toxoplasmosis_Homo sapiens_hsa051450.53768554
97cAMP signaling pathway_Homo sapiens_hsa040240.53410301
98Colorectal cancer_Homo sapiens_hsa052100.53035209
99VEGF signaling pathway_Homo sapiens_hsa043700.52462495
100Neurotrophin signaling pathway_Homo sapiens_hsa047220.51939831
101Ras signaling pathway_Homo sapiens_hsa040140.51783175
102Inositol phosphate metabolism_Homo sapiens_hsa005620.51689107
103Oocyte meiosis_Homo sapiens_hsa041140.51465432
104Phenylalanine metabolism_Homo sapiens_hsa003600.50364162
105mRNA surveillance pathway_Homo sapiens_hsa030150.50181464
106Carbon metabolism_Homo sapiens_hsa012000.49841307
107Pentose phosphate pathway_Homo sapiens_hsa000300.49750259
108Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.48606179
109Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.47740465
110Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.46886412
111Fatty acid degradation_Homo sapiens_hsa000710.46752132
112Choline metabolism in cancer_Homo sapiens_hsa052310.45510059
113Prolactin signaling pathway_Homo sapiens_hsa049170.45122027
114Phospholipase D signaling pathway_Homo sapiens_hsa040720.44662080
115Steroid biosynthesis_Homo sapiens_hsa001000.44452492
116Long-term depression_Homo sapiens_hsa047300.43944379
117Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.43724940
118Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.43284602
119Ovarian steroidogenesis_Homo sapiens_hsa049130.42514878
120Non-small cell lung cancer_Homo sapiens_hsa052230.40568107
121Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.39707465
122Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.38579469

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