LOXL1

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





Description: This gene encodes a member of the lysyl oxidase family of proteins. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyzes the first step in the formation of crosslinks in collagen and elastin. The encoded preproprotein is proteolytically processed to generate the mature enzyme. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. Mutations in this gene are associated with exfoliation syndrome. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1protein heterotrimerization (GO:0070208)8.04687472
2collagen fibril organization (GO:0030199)7.24831424
3bone trabecula formation (GO:0060346)6.75039211
4sequestering of extracellular ligand from receptor (GO:0035581)6.26201147
5chondrocyte proliferation (GO:0035988)6.17585021
6skin morphogenesis (GO:0043589)5.80193300
7extracellular fibril organization (GO:0043206)5.41725450
8endodermal cell differentiation (GO:0035987)5.24393020
9fibril organization (GO:0097435)5.00564160
10dermatan sulfate biosynthetic process (GO:0030208)4.94719227
11regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)4.91173633
12collagen metabolic process (GO:0032963)4.84530420
13collagen catabolic process (GO:0030574)4.72666235
14type B pancreatic cell proliferation (GO:0044342)4.67000066
15multicellular organismal macromolecule metabolic process (GO:0044259)4.53621132
16dermatan sulfate metabolic process (GO:0030205)4.49776241
17wound healing, spreading of epidermal cells (GO:0035313)4.48284616
18extracellular matrix assembly (GO:0085029)4.37949402
19multicellular organismal catabolic process (GO:0044243)4.33493197
20positive regulation of endothelial cell apoptotic process (GO:2000353)4.29964157
21multicellular organismal metabolic process (GO:0044236)4.27483618
22neuron projection extension involved in neuron projection guidance (GO:1902284)4.23971954
23axon extension involved in axon guidance (GO:0048846)4.23971954
24metanephric mesenchyme development (GO:0072075)4.18266374
25mesenchymal-epithelial cell signaling (GO:0060638)4.14639663
26extracellular matrix disassembly (GO:0022617)4.12226610
27negative regulation of fatty acid transport (GO:2000192)4.08103597
28basement membrane organization (GO:0071711)3.99905484
29regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.93279505
30kidney mesenchyme development (GO:0072074)3.89725441
31retina vasculature morphogenesis in camera-type eye (GO:0061299)3.85001753
32cell adhesion mediated by integrin (GO:0033627)3.79213252
33plasma membrane repair (GO:0001778)3.72915278
34peptidyl-proline hydroxylation (GO:0019511)3.72853491
35cartilage development involved in endochondral bone morphogenesis (GO:0060351)3.71845470
36peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)3.69532567
37apoptotic cell clearance (GO:0043277)3.67384545
38craniofacial suture morphogenesis (GO:0097094)3.66599221
39negative regulation of chondrocyte differentiation (GO:0032331)3.62099209
40COPI coating of Golgi vesicle (GO:0048205)3.61690109
41Golgi transport vesicle coating (GO:0048200)3.61690109
42wound healing, spreading of cells (GO:0044319)3.61613733
43regulation of tight junction assembly (GO:2000810)3.60097079
44adhesion of symbiont to host (GO:0044406)3.57986312
45cell migration involved in heart development (GO:0060973)3.51510600
46outer ear morphogenesis (GO:0042473)3.49303744
47trabecula formation (GO:0060343)3.48306451
48cellular response to vitamin (GO:0071295)3.47671377
49epithelial cell-cell adhesion (GO:0090136)3.46434184
50glomerular basement membrane development (GO:0032836)3.45179152
51heparan sulfate proteoglycan biosynthetic process (GO:0015012)3.42496316
52vascular endothelial growth factor signaling pathway (GO:0038084)3.38532463
53positive regulation of epithelial to mesenchymal transition (GO:0010718)3.37920335
54stress fiber assembly (GO:0043149)3.35298111
55extracellular regulation of signal transduction (GO:1900115)3.33240402
56extracellular negative regulation of signal transduction (GO:1900116)3.33240402
57blood vessel maturation (GO:0001955)3.31672308
58keratan sulfate catabolic process (GO:0042340)3.31542001
59* extracellular matrix organization (GO:0030198)3.31066882
60positive regulation of blood vessel endothelial cell migration (GO:0043536)3.31030129
61barbed-end actin filament capping (GO:0051016)3.29968167
62* extracellular structure organization (GO:0043062)3.29697354
63protein retention in ER lumen (GO:0006621)3.29045705
64planar cell polarity pathway involved in neural tube closure (GO:0090179)3.28563652
65protein hydroxylation (GO:0018126)3.26110887
66protein localization to cell surface (GO:0034394)3.25923088
67maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.25009804
68venous blood vessel morphogenesis (GO:0048845)3.24386424
69cell-substrate junction assembly (GO:0007044)3.22587830
70Wnt signaling pathway, planar cell polarity pathway (GO:0060071)3.19562348
71cellular response to amino acid stimulus (GO:0071230)3.13163913
72cochlea morphogenesis (GO:0090103)3.11072714
73regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.10527536
74negative regulation of cartilage development (GO:0061037)3.07529938
75positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr3.04688814
76cell migration involved in sprouting angiogenesis (GO:0002042)3.04672380
77regulation of establishment of planar polarity (GO:0090175)3.03459129
78cellular response to interferon-alpha (GO:0035457)3.01856493
79chondrocyte development (GO:0002063)3.01655033
80negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)3.01334042
81negative regulation of osteoblast proliferation (GO:0033689)3.00361583
82negative regulation of catenin import into nucleus (GO:0035414)2.99221561
83middle ear morphogenesis (GO:0042474)2.98180690
84negative regulation of BMP signaling pathway (GO:0030514)2.95233721
85epoxygenase P450 pathway (GO:0019373)2.94286192
86chondroitin sulfate biosynthetic process (GO:0030206)2.93415765
87embryonic cranial skeleton morphogenesis (GO:0048701)2.93326487
88cellular response to vitamin D (GO:0071305)2.93242194
89adhesion of symbiont to host cell (GO:0044650)2.92219952
90virion attachment to host cell (GO:0019062)2.92219952
91muscle cell migration (GO:0014812)2.90725948
92adherens junction assembly (GO:0034333)2.90038316
93vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.89792071
94heparan sulfate proteoglycan metabolic process (GO:0030201)2.89300124
95negative regulation of smooth muscle cell migration (GO:0014912)2.88318182
96paraxial mesoderm development (GO:0048339)2.88277315
97regulation of integrin-mediated signaling pathway (GO:2001044)2.87331070
98endocardial cushion development (GO:0003197)2.86773882
99endothelial cell morphogenesis (GO:0001886)2.86703377
100regulation of branching involved in salivary gland morphogenesis (GO:0060693)2.86455703
101negative regulation of embryonic development (GO:0045992)2.84203199
102regulation of extracellular matrix disassembly (GO:0010715)2.84151246
103hippo signaling (GO:0035329)2.83837431
104substrate-dependent cell migration (GO:0006929)2.82736580
105glial cell migration (GO:0008347)2.81196947
106positive regulation of axon extension (GO:0045773)2.81105242
107cranial suture morphogenesis (GO:0060363)2.81014086
108wound healing (GO:0042060)2.79813776
109dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.79275251
110regulation of plasminogen activation (GO:0010755)2.78868400
111substrate adhesion-dependent cell spreading (GO:0034446)2.78355877
112cell proliferation involved in metanephros development (GO:0072203)2.78032893
113G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071992.77167833
114protein trimerization (GO:0070206)2.75839875
115regulation of cartilage development (GO:0061035)2.74601176
116smooth muscle tissue development (GO:0048745)2.73690689
117regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition 2.73186311
118negative regulation of axon extension involved in axon guidance (GO:0048843)2.72525099
119focal adhesion assembly (GO:0048041)2.72192104
120cell-substrate adherens junction assembly (GO:0007045)2.72192104
121endothelial cell proliferation (GO:0001935)2.71991844
122hyaluronan catabolic process (GO:0030214)2.69948846
123protein targeting to plasma membrane (GO:0072661)2.69614617
124response to fluid shear stress (GO:0034405)2.68218716
125tooth mineralization (GO:0034505)2.67558574
126negative regulation of adherens junction organization (GO:1903392)2.66632064
127negative regulation of focal adhesion assembly (GO:0051895)2.66632064
128negative regulation of cell junction assembly (GO:1901889)2.66632064
129positive regulation of osteoblast proliferation (GO:0033690)2.65794272
130omega-hydroxylase P450 pathway (GO:0097267)2.65074690

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human7.58425090
2TP63_17297297_ChIP-ChIP_HaCaT_Human5.44855799
3* RARG_19884340_ChIP-ChIP_MEFs_Mouse5.32751113
4PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse4.55268550
5TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human3.42358933
6RUNX2_24764292_ChIP-Seq_MC3T3_Mouse3.39456970
7* CLOCK_20551151_ChIP-Seq_293T_Human3.27934122
8CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.79028590
9TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.54020717
10CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse2.52578378
11* CJUN_26792858_Chip-Seq_BT549_Human2.51548804
12NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.49640803
13ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.38560097
14WT1_19549856_ChIP-ChIP_CCG9911_Human2.26052932
15* ELK3_25401928_ChIP-Seq_HUVEC_Human2.25288917
16HIF1A_21447827_ChIP-Seq_MCF-7_Human2.25093652
17PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.14812892
18* BRD4_25478319_ChIP-Seq_HGPS_Human2.14207689
19EP300_21415370_ChIP-Seq_HL-1_Mouse2.13424159
20EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.13056681
21* WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse2.12272661
22TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.88294630
23EGR1_19374776_ChIP-ChIP_THP-1_Human1.85080456
24NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.79206645
25NRF2_20460467_ChIP-Seq_MEFs_Mouse1.79206645
26* SMC1_22415368_ChIP-Seq_MEFs_Mouse1.78131408
27ESR1_21235772_ChIP-Seq_MCF-7_Human1.77492914
28ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.74935183
29TP53_20018659_ChIP-ChIP_R1E_Mouse1.69507590
30JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.65300573
31SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.64891794
32P300_27058665_Chip-Seq_ZR-75-30cells_Human1.60432006
33NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.58385764
34ESR2_21235772_ChIP-Seq_MCF-7_Human1.56535322
35TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.55917066
36PPAR_26484153_Chip-Seq_NCI-H1993_Human1.55870207
37TP53_22127205_ChIP-Seq_IMR90_Human1.54394746
38SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.53564088
39SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.53564088
40JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.50808803
41ATF3_27146783_Chip-Seq_COLON_Human1.49712042
42* UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.49471419
43UBF1/2_26484160_Chip-Seq_HMECs_Human1.48730182
44TP53_23651856_ChIP-Seq_MEFs_Mouse1.45366692
45ZFP281_18757296_ChIP-ChIP_E14_Mouse1.45046026
46SMC3_22415368_ChIP-Seq_MEFs_Mouse1.44006665
47* EED_16625203_ChIP-ChIP_MESCs_Mouse1.43539741
48KDM2B_26808549_Chip-Seq_SUP-B15_Human1.43456239
49POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.41296292
50JARID2_20075857_ChIP-Seq_MESCs_Mouse1.41290140
51RACK7_27058665_Chip-Seq_MCF-7_Human1.40191852
52MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.39914280
53TBX20_22328084_ChIP-Seq_HEART_Mouse1.39636679
54TBX20_22080862_ChIP-Seq_HEART_Mouse1.39636679
55SMAD_19615063_ChIP-ChIP_OVARY_Human1.38622753
56RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.35979477
57* RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.33802422
58* MTF2_20144788_ChIP-Seq_MESCs_Mouse1.32649614
59SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.31280855
60TP53_18474530_ChIP-ChIP_U2OS_Human1.29438127
61RNF2_18974828_ChIP-Seq_MESCs_Mouse1.28969011
62EZH2_18974828_ChIP-Seq_MESCs_Mouse1.28969011
63* RNF2_27304074_Chip-Seq_ESCs_Mouse1.28171502
64CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.27398190
65SOX2_20726797_ChIP-Seq_SW620_Human1.26588914
66EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.25432988
67LXR_22292898_ChIP-Seq_THP-1_Human1.22722748
68HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.22593451
69EZH2_27304074_Chip-Seq_ESCs_Mouse1.22246927
70KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.21748394
71SA1_22415368_ChIP-Seq_MEFs_Mouse1.21107674
72ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.20352261
73P63_26484246_Chip-Seq_KERATINOCYTES_Human1.19443847
74NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.17686107
75TP53_16413492_ChIP-PET_HCT116_Human1.17297889
76STAT6_21828071_ChIP-Seq_BEAS2B_Human1.16247800
77SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.16178652
78SOX9_24532713_ChIP-Seq_HFSC_Mouse1.15726020
79ERG_21242973_ChIP-ChIP_JURKAT_Human1.15551634
80RBPJ_22232070_ChIP-Seq_NCS_Mouse1.15133230
81GATA2_21666600_ChIP-Seq_HMVEC_Human1.13592509
82TET1_21490601_ChIP-Seq_MESCs_Mouse1.12471104
83TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.12374487
84FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.10369645
85* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.09851970
86JARID2_20064375_ChIP-Seq_MESCs_Mouse1.08236999
87THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.06897738
88KDM2B_26808549_Chip-Seq_K562_Human1.06046028
89EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.05612409
90FOXO3_23340844_ChIP-Seq_DLD1_Human1.04615023
91TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.03872820
92NFIB_24661679_ChIP-Seq_LUNG_Mouse1.03779740
93SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.02951853
94SALL4_18804426_ChIP-ChIP_XEN_Mouse1.02346036
95* ISL1_27105846_Chip-Seq_CPCs_Mouse1.02334417
96SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.01348830
97* SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.01118502
98HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.01076458
99OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.00288761
100NFI_21473784_ChIP-Seq_ESCs_Mouse0.99898958
101RING1B_27294783_Chip-Seq_ESCs_Mouse0.99821659
102KDM2B_26808549_Chip-Seq_DND41_Human0.99809716
103* SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.99729992
104PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.98722097
105SUZ12_16625203_ChIP-ChIP_MESCs_Mouse0.98721955
106ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.98090310
107CDX2_19796622_ChIP-Seq_MESCs_Mouse0.98052222
108KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.98021032
109DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.97659728
110ESR1_15608294_ChIP-ChIP_MCF-7_Human0.97185719
111KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.94051075
112TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.93642943
113ZFP281_27345836_Chip-Seq_ESCs_Mouse0.93528701
114ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.93204576
115* PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.91367850
116STAT3_1855785_ChIP-Seq_MESCs_Mouse0.90041178
117TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.89729168
118KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.89524044
119SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.89133102

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen9.12504706
2MP0005275_abnormal_skin_tensile5.66858229
3MP0005503_abnormal_tendon_morphology5.56858278
4MP0003705_abnormal_hypodermis_morpholog4.54688646
5MP0003279_aneurysm4.32178989
6MP0001958_emphysema3.95444814
7MP0006054_spinal_hemorrhage2.64362553
8MP0004272_abnormal_basement_membrane2.60302433
9MP0005623_abnormal_meninges_morphology2.60075037
10MP0009384_cardiac_valve_regurgitation2.53997831
11MP0005257_abnormal_intraocular_pressure2.41964641
12MP0005508_abnormal_skeleton_morphology2.32510021
13MP0002060_abnormal_skin_morphology2.15546660
14MP0010030_abnormal_orbit_morphology2.03627956
15MP0003566_abnormal_cell_adhesion2.00722223
16MP0002295_abnormal_pulmonary_circulatio1.91296984
17MP0005023_abnormal_wound_healing1.86395791
18MP0002108_abnormal_muscle_morphology1.82234966
19MP0010368_abnormal_lymphatic_system1.77886689
20MP0001542_abnormal_bone_strength1.70101575
21MP0003091_abnormal_cell_migration1.62274056
22MP0001243_abnormal_dermal_layer1.61104468
23MP0004858_abnormal_nervous_system1.57485182
24MP0003385_abnormal_body_wall1.56982482
25MP0009250_abnormal_appendicular_skeleto1.53527946
26MP0000767_abnormal_smooth_muscle1.49765470
27MP0000751_myopathy1.41834478
28MP0010352_gastrointestinal_tract_polyps1.39868171
29MP0000733_abnormal_muscle_development1.37692974
30MP0000013_abnormal_adipose_tissue1.37437824
31MP0005390_skeleton_phenotype1.32075479
32MP0002933_joint_inflammation1.26052207
33MP0002877_abnormal_melanocyte_morpholog1.26017415
34MP0002896_abnormal_bone_mineralization1.25114039
35MP0009780_abnormal_chondrocyte_physiolo1.21562744
36MP0000750_abnormal_muscle_regeneration1.18019919
37MP0000749_muscle_degeneration1.11679419
38MP0001348_abnormal_lacrimal_gland1.10496598
39MP0003115_abnormal_respiratory_system1.10055369
40MP0000428_abnormal_craniofacial_morphol1.09624700
41MP0003283_abnormal_digestive_organ1.09256789
42MP0004134_abnormal_chest_morphology1.09001069
43MP0000163_abnormal_cartilage_morphology1.08487834
44MP0002932_abnormal_joint_morphology1.07852548
45MP0002282_abnormal_trachea_morphology1.07299909
46MP0001299_abnormal_eye_distance/1.05536493
47MP0001849_ear_inflammation1.03580982
48MP0003942_abnormal_urinary_system1.03097996
49MP0001879_abnormal_lymphatic_vessel1.02171737
50MP0010386_abnormal_urinary_bladder1.00833696
51MP0002115_abnormal_skeleton_extremities0.97303220
52MP0000049_abnormal_middle_ear0.94106337
53MP0000759_abnormal_skeletal_muscle0.93511123
54MP0005595_abnormal_vascular_smooth0.93225429
55MP0003045_fibrosis0.91270791
56MP0000534_abnormal_ureter_morphology0.90806019
57MP0002249_abnormal_larynx_morphology0.90122205
58MP0000003_abnormal_adipose_tissue0.89660448
59MP0002168_other_aberrant_phenotype0.89631973
60MP0002128_abnormal_blood_circulation0.89375245
61MP0000462_abnormal_digestive_system0.86113824
62MP0002113_abnormal_skeleton_development0.85770325
63MP0009053_abnormal_anal_canal0.85664313
64MP0002998_abnormal_bone_remodeling0.85568803
65MP0003755_abnormal_palate_morphology0.84882535
66MP0002837_dystrophic_cardiac_calcinosis0.83025635
67MP0001533_abnormal_skeleton_physiology0.82162684
68MP0003941_abnormal_skin_development0.80589460
69MP0001614_abnormal_blood_vessel0.79302226
70MP0002133_abnormal_respiratory_system0.78789333
71MP0005388_respiratory_system_phenotype0.78789333
72MP0004087_abnormal_muscle_fiber0.77698104
73MP0005076_abnormal_cell_differentiation0.76065710
74MP0003950_abnormal_plasma_membrane0.74804267
75MP0003795_abnormal_bone_structure0.72262486
76MP0003448_altered_tumor_morphology0.71195306
77MP0002089_abnormal_postnatal_growth/wei0.70578656
78MP0005330_cardiomyopathy0.70170576
79MP0004084_abnormal_cardiac_muscle0.69977513
80MP0005369_muscle_phenotype0.69684532
81* MP0001175_abnormal_lung_morphology0.69260568
82MP0002116_abnormal_craniofacial_bone0.68289376
83MP0000432_abnormal_head_morphology0.66840612
84MP0000343_altered_response_to0.65906919
85MP0005164_abnormal_response_to0.64070161
86MP0005197_abnormal_uvea_morphology0.63705172
87MP0000762_abnormal_tongue_morphology0.63594809
88MP0002925_abnormal_cardiovascular_devel0.63569134
89MP0003935_abnormal_craniofacial_develop0.62494655
90MP0000858_altered_metastatic_potential0.62148569
91MP0004883_abnormal_blood_vessel0.60798571
92MP0001177_atelectasis0.59844087
93MP0004233_abnormal_muscle_weight0.59735773
94MP0001915_intracranial_hemorrhage0.59669820
95MP0002109_abnormal_limb_morphology0.59328654
96MP0000538_abnormal_urinary_bladder0.59152380
97MP0005375_adipose_tissue_phenotype0.57914734
98MP0002114_abnormal_axial_skeleton0.57522170
99MP0008775_abnormal_heart_ventricle0.57219676
100MP0005193_abnormal_anterior_eye0.57000626
101MP0006138_congestive_heart_failure0.56968289
102MP0002111_abnormal_tail_morphology0.56801865
103MP0005171_absent_coat_pigmentation0.56749168
104MP0002254_reproductive_system_inflammat0.55955289
105MP0001270_distended_abdomen0.55941345
106MP0002233_abnormal_nose_morphology0.53914679
107MP0003300_gastrointestinal_ulcer0.53440854
108MP0010771_integument_phenotype0.52849761
109MP0000266_abnormal_heart_morphology0.52217612
110MP0000467_abnormal_esophagus_morphology0.50962052
111MP0005165_increased_susceptibility_to0.50954544
112MP0003937_abnormal_limbs/digits/tail_de0.50484324
113MP0002177_abnormal_outer_ear0.49684289
114MP0009840_abnormal_foam_cell0.48983056
115MP0005058_abnormal_lysosome_morphology0.45766211
116MP0002092_abnormal_eye_morphology0.45071335

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)9.80095040
2Premature rupture of membranes (HP:0001788)9.16838423
3Ankle contracture (HP:0006466)5.31003984
4Aortic dissection (HP:0002647)5.30928037
5Soft skin (HP:0000977)5.23968076
6Peritonitis (HP:0002586)4.92142047
7Shallow orbits (HP:0000586)4.84538053
8Bladder diverticulum (HP:0000015)4.83176516
9Broad metatarsal (HP:0001783)4.66697275
10Atrophic scars (HP:0001075)4.59225788
11Aortic aneurysm (HP:0004942)4.58551411
12Dilatation of the ascending aorta (HP:0005111)4.37987868
13Vertebral compression fractures (HP:0002953)4.33382879
14Fragile skin (HP:0001030)4.29503436
15Cerebral aneurysm (HP:0004944)4.25167869
16Abnormality of dentin (HP:0010299)4.16433122
17Biconcave vertebral bodies (HP:0004586)3.94035074
18Type 1 muscle fiber predominance (HP:0003803)3.82585161
19Neonatal short-limb short stature (HP:0008921)3.82068522
20Increased connective tissue (HP:0009025)3.81684411
21Spinal rigidity (HP:0003306)3.72821795
22Wormian bones (HP:0002645)3.72383336
23Cervical subluxation (HP:0003308)3.71927501
24Wrist flexion contracture (HP:0001239)3.69699223
25Genu recurvatum (HP:0002816)3.63671422
26Blue sclerae (HP:0000592)3.58227484
27Follicular hyperkeratosis (HP:0007502)3.51947571
28Bowel diverticulosis (HP:0005222)3.42507694
29Mitral valve prolapse (HP:0001634)3.42380454
30Vascular tortuosity (HP:0004948)3.31057003
31Abnormal delivery (HP:0001787)3.17311957
32Overgrowth (HP:0001548)3.01557054
33Hyperextensible skin (HP:0000974)2.96879709
34Mildly elevated creatine phosphokinase (HP:0008180)2.96338682
35Slender build (HP:0001533)2.87425355
36Hypoventilation (HP:0002791)2.75517095
37Increased variability in muscle fiber diameter (HP:0003557)2.74859075
38Abnormality of the acetabulum (HP:0003170)2.69392378
39Infantile muscular hypotonia (HP:0008947)2.62250628
40Mitral regurgitation (HP:0001653)2.62000779
41Breech presentation (HP:0001623)2.59322664
42Aneurysm (HP:0002617)2.57929551
43Elbow flexion contracture (HP:0002987)2.56761314
44Arterial tortuosity (HP:0005116)2.56184715
45Ulnar bowing (HP:0003031)2.49538263
46Round ear (HP:0100830)2.48620300
47Joint laxity (HP:0001388)2.47448077
48Abnormality of skeletal muscle fiber size (HP:0012084)2.43060170
49Wide anterior fontanel (HP:0000260)2.42487188
50Camptodactyly of toe (HP:0001836)2.36218478
51Ectopia lentis (HP:0001083)2.35673450
52Thin bony cortex (HP:0002753)2.34197963
53Deviation of the hallux (HP:0010051)2.29895638
54Osteolytic defects of the phalanges of the hand (HP:0009771)2.29225331
55Osteolytic defects of the hand bones (HP:0009699)2.29225331
56Nonimmune hydrops fetalis (HP:0001790)2.28519555
57Short nail (HP:0001799)2.24320533
58Hallux valgus (HP:0001822)2.21062685
59Abnormality of the peritoneum (HP:0002585)2.17733745
60Venous abnormality (HP:0002624)2.11701430
61Mitral stenosis (HP:0001718)2.10119291
62Generalized amyotrophy (HP:0003700)2.09581351
63Long toe (HP:0010511)2.07433443
64Spondylolisthesis (HP:0003302)2.06846426
65Natal tooth (HP:0000695)2.06620740
66Coxa vara (HP:0002812)2.05750715
67Limb-girdle muscle weakness (HP:0003325)2.03964344
68Difficulty climbing stairs (HP:0003551)2.02307491
69Joint stiffness (HP:0001387)2.01934787
70Venous insufficiency (HP:0005293)1.99443159
71Protruding ear (HP:0000411)1.98761785
72Renal duplication (HP:0000075)1.96494195
73Absent frontal sinuses (HP:0002688)1.94574684
74Aortic regurgitation (HP:0001659)1.93816158
75Premature skin wrinkling (HP:0100678)1.93547052
76Broad ribs (HP:0000885)1.93444734
77Inguinal hernia (HP:0000023)1.91547253
78Osteoarthritis (HP:0002758)1.91089832
79Achilles tendon contracture (HP:0001771)1.91013624
80Bell-shaped thorax (HP:0001591)1.88229209
81Striae distensae (HP:0001065)1.87864957
82Thin skin (HP:0000963)1.87147155
83Buphthalmos (HP:0000557)1.86856090
84Congenital glaucoma (HP:0001087)1.86241947
85Muscle fiber splitting (HP:0003555)1.85575716
86Coronal craniosynostosis (HP:0004440)1.85462969
87Osteopenia (HP:0000938)1.84614814
88Joint contractures involving the joints of the feet (HP:0100492)1.84269550
89Flexion contracture of toe (HP:0005830)1.84269550
90Distal lower limb amyotrophy (HP:0008944)1.84260905
91Mesomelia (HP:0003027)1.84136678
92Aortic valve stenosis (HP:0001650)1.83173377
93Delayed cranial suture closure (HP:0000270)1.82781658
94Mild short stature (HP:0003502)1.80339202
95Abnormality of skull ossification (HP:0002703)1.80240823
96Tibial bowing (HP:0002982)1.80083268
97Thoracolumbar scoliosis (HP:0002944)1.79625551
98Ovoid vertebral bodies (HP:0003300)1.79558198
99Bowed forearm bones (HP:0003956)1.79132232
100Bowing of the arm (HP:0006488)1.79132232
101Knee flexion contracture (HP:0006380)1.79043756
102Disproportionate tall stature (HP:0001519)1.78481136
103Decreased skull ossification (HP:0004331)1.75716486
104Thin ribs (HP:0000883)1.75534578
105Broad long bones (HP:0005622)1.75432785
106Redundant skin (HP:0001582)1.74074591
107Tarsal synostosis (HP:0008368)1.73085778
108Hip contracture (HP:0003273)1.73082618
109Upper limb amyotrophy (HP:0009129)1.72160479
110Distal upper limb amyotrophy (HP:0007149)1.72160479
111Delayed closure of the anterior fontanelle (HP:0001476)1.71688622
112Deformed tarsal bones (HP:0008119)1.71522430
113Abnormality of the anterior chamber (HP:0000593)1.71107640
114Morphological abnormality of the middle ear (HP:0008609)1.70816916
115Flat cornea (HP:0007720)1.70764319
116Scapular winging (HP:0003691)1.69219895
117Slender long bone (HP:0003100)1.69039228
118Hyperacusis (HP:0010780)1.68459153
119Turricephaly (HP:0000262)1.67739010
120Abnormality of the Achilles tendon (HP:0005109)1.66761238

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TRIB34.98664929
2DDR24.36216877
3TTN4.22335875
4LATS23.97011140
5PDGFRA3.70802821
6ERN13.69078723
7PKN23.14477754
8LATS12.40174363
9EPHB22.24618577
10FER1.99426678
11PAK21.95139429
12BMX1.92957978
13TGFBR21.83294812
14EPHA31.81622897
15RIPK11.70632328
16DMPK1.67914579
17SIK11.67312572
18TRPM71.67215300
19PIM21.63752022
20PTK21.55601114
21PAK41.50031930
22MYLK1.47402439
23MOS1.47016634
24RPS6KA41.44785568
25TESK11.43511636
26PTK2B1.39268506
27PAK31.33962274
28LIMK11.28050611
29ILK1.27929182
30NEK91.22941212
31MUSK1.22492639
32SMG11.21359120
33PTK61.21127051
34PRKD21.17790572
35RPS6KA21.15251685
36LRRK21.10572531
37PDGFRB1.05232340
38EPHB11.03816394
39ROCK11.03650419
40PRKD31.02293806
41MAP3K60.99611818
42PIK3CG0.99549964
43PIK3CA0.99083908
44MET0.95324113
45EEF2K0.92518405
46STK30.91989508
47MTOR0.91452116
48FGFR10.90778071
49NME20.89381599
50DAPK30.88841295
51STK38L0.88687630
52ARAF0.84355012
53MAPK70.81393542
54PRKD10.80358861
55FLT30.80063010
56GRK50.79972370
57NTRK10.78698805
58MAP2K10.78240587
59CDK80.75195615
60ERBB30.72525597
61PAK10.70397988
62MAP3K100.69955557
63AKT30.65915390
64TAOK10.65839903
65ABL20.65310182
66MAP3K30.65246998
67ROCK20.64550826
68FGFR40.63742224
69PRKCH0.62542720
70ERBB40.62305770
71IRAK30.60597001
72CDC42BPA0.60428106
73RPS6KC10.60327713
74RPS6KL10.60327713
75MELK0.57031933
76CLK10.55336292
77KIT0.54623244
78EPHA20.53603526
79INSR0.53384067
80TESK20.53182947
81WNK10.51975234
82TGFBR10.50242803
83TAOK20.48766164
84GSK3A0.48612733
85CAMK2G0.48479576
86GRK70.47923854
87MST1R0.47635342
88RET0.47600056
89MAPKAPK30.47585561
90CAMK1D0.47145454
91CDK11A0.44820768
92MAP2K30.44248767
93PRPF4B0.44201912
94NEK20.42408774
95ADRBK10.41087170
96RPS6KA60.40684760
97PDK30.40223903
98PDK40.40223903
99CDK180.39291633
100PLK20.36442555
101SRC0.36005853
102LMTK20.35713651
103PRKG20.35474749
104CSK0.35317455
105SCYL20.34964579
106CDK120.34962019
107PDK20.34724479
108BRAF0.34152843
109JAK10.33544026
110MAPKAPK20.33287759
111DYRK1B0.33025856
112PAK60.32677777
113CAMKK10.32033344
114MARK20.29928627
115CAMK2D0.29527512
116STK380.29157270
117CDK140.29110152
118CDK70.28867642
119MAPK10.28101544
120ICK0.27431822
121FRK0.26635312
122MAP3K80.26182736
123CDK150.25563582
124CDK60.25536104
125TBK10.24959947
126FGFR30.24705052
127JAK30.24399177
128KDR0.23499804
129MAP3K70.20702477

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045124.76785810
2Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005323.57063564
3Focal adhesion_Homo sapiens_hsa045103.42388327
4Protein digestion and absorption_Homo sapiens_hsa049742.91444327
5AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049332.60329118
6Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.53866843
7Proteoglycans in cancer_Homo sapiens_hsa052052.49730318
8Bladder cancer_Homo sapiens_hsa052192.46629211
9Dilated cardiomyopathy_Homo sapiens_hsa054142.43652393
10Malaria_Homo sapiens_hsa051442.38644309
11Amoebiasis_Homo sapiens_hsa051462.35463236
12Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.25868106
13TGF-beta signaling pathway_Homo sapiens_hsa043502.07309105
14Bacterial invasion of epithelial cells_Homo sapiens_hsa051002.04613507
15Adherens junction_Homo sapiens_hsa045201.98332650
16PI3K-Akt signaling pathway_Homo sapiens_hsa041511.77361621
17Small cell lung cancer_Homo sapiens_hsa052221.74643095
18Hippo signaling pathway_Homo sapiens_hsa043901.71737749
19Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.70074593
20MicroRNAs in cancer_Homo sapiens_hsa052061.67126332
21Melanoma_Homo sapiens_hsa052181.63933642
22Basal cell carcinoma_Homo sapiens_hsa052171.54825830
23Chronic myeloid leukemia_Homo sapiens_hsa052201.51598634
24Regulation of actin cytoskeleton_Homo sapiens_hsa048101.47143515
25Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.39090540
26Hedgehog signaling pathway_Homo sapiens_hsa043401.30727758
27Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.26945694
28p53 signaling pathway_Homo sapiens_hsa041151.26666952
29Viral myocarditis_Homo sapiens_hsa054161.22822509
30Leukocyte transendothelial migration_Homo sapiens_hsa046701.19404499
31Glioma_Homo sapiens_hsa052141.16482339
32Pathways in cancer_Homo sapiens_hsa052001.12877598
33Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.09369062
34Vibrio cholerae infection_Homo sapiens_hsa051101.09331861
35TNF signaling pathway_Homo sapiens_hsa046681.09291353
36Shigellosis_Homo sapiens_hsa051311.07990798
37Rap1 signaling pathway_Homo sapiens_hsa040151.06108078
38Central carbon metabolism in cancer_Homo sapiens_hsa052301.05240177
39Prostate cancer_Homo sapiens_hsa052151.05157610
40Platelet activation_Homo sapiens_hsa046111.04189084
41Pancreatic cancer_Homo sapiens_hsa052121.04070677
42HIF-1 signaling pathway_Homo sapiens_hsa040661.01634936
43Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.99402215
44HTLV-I infection_Homo sapiens_hsa051660.96929803
45Tight junction_Homo sapiens_hsa045300.93809599
46Wnt signaling pathway_Homo sapiens_hsa043100.90232879
47Glycosaminoglycan degradation_Homo sapiens_hsa005310.88755624
48cGMP-PKG signaling pathway_Homo sapiens_hsa040220.88655441
49Toxoplasmosis_Homo sapiens_hsa051450.85118810
50Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.83080373
51Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.82435379
52Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.81849579
53Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.81665912
54Apoptosis_Homo sapiens_hsa042100.78976135
55Pentose phosphate pathway_Homo sapiens_hsa000300.77127060
56Phagosome_Homo sapiens_hsa041450.75149668
57Cocaine addiction_Homo sapiens_hsa050300.75001089
58Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.73472181
59Axon guidance_Homo sapiens_hsa043600.68359489
60Longevity regulating pathway - mammal_Homo sapiens_hsa042110.66580043
61Renal cell carcinoma_Homo sapiens_hsa052110.65716949
62Vascular smooth muscle contraction_Homo sapiens_hsa042700.65201489
63Melanogenesis_Homo sapiens_hsa049160.64582432
64Ras signaling pathway_Homo sapiens_hsa040140.62672661
65Notch signaling pathway_Homo sapiens_hsa043300.61783176
66Ovarian steroidogenesis_Homo sapiens_hsa049130.61624061
67Salmonella infection_Homo sapiens_hsa051320.61386621
68AMPK signaling pathway_Homo sapiens_hsa041520.60229766
69Phospholipase D signaling pathway_Homo sapiens_hsa040720.59453733
70Sulfur metabolism_Homo sapiens_hsa009200.59346594
71GnRH signaling pathway_Homo sapiens_hsa049120.59283888
72Hepatitis B_Homo sapiens_hsa051610.58731529
73Thyroid hormone synthesis_Homo sapiens_hsa049180.58094561
74Viral carcinogenesis_Homo sapiens_hsa052030.58027398
75Gap junction_Homo sapiens_hsa045400.57737470
76Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.56940992
77Adipocytokine signaling pathway_Homo sapiens_hsa049200.56143271
78Insulin resistance_Homo sapiens_hsa049310.55797575
79mTOR signaling pathway_Homo sapiens_hsa041500.55646567
80N-Glycan biosynthesis_Homo sapiens_hsa005100.55220458
81Estrogen signaling pathway_Homo sapiens_hsa049150.54816613
82Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.54006723
83Acute myeloid leukemia_Homo sapiens_hsa052210.53673036
84Sulfur relay system_Homo sapiens_hsa041220.52475000
85Endocytosis_Homo sapiens_hsa041440.52166289
86Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.50837175
87Complement and coagulation cascades_Homo sapiens_hsa046100.50748382
88Colorectal cancer_Homo sapiens_hsa052100.50705276
89Lysosome_Homo sapiens_hsa041420.50600057
90Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.48923149
91FoxO signaling pathway_Homo sapiens_hsa040680.48626034
92Thyroid hormone signaling pathway_Homo sapiens_hsa049190.47591327
93Endometrial cancer_Homo sapiens_hsa052130.46302509
94Galactose metabolism_Homo sapiens_hsa000520.45960575
95VEGF signaling pathway_Homo sapiens_hsa043700.45499298
96Arachidonic acid metabolism_Homo sapiens_hsa005900.45288192
97Neurotrophin signaling pathway_Homo sapiens_hsa047220.44050403
98Insulin signaling pathway_Homo sapiens_hsa049100.44012333
99Prion diseases_Homo sapiens_hsa050200.42513321
100Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.41492791
101Renin-angiotensin system_Homo sapiens_hsa046140.40933068
102Aldosterone synthesis and secretion_Homo sapiens_hsa049250.40605629
103Oxytocin signaling pathway_Homo sapiens_hsa049210.40277042
104Non-small cell lung cancer_Homo sapiens_hsa052230.39528402
105Thyroid cancer_Homo sapiens_hsa052160.39418416
106Cholinergic synapse_Homo sapiens_hsa047250.38638131
107MAPK signaling pathway_Homo sapiens_hsa040100.37498156
108Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.36130593
109Caffeine metabolism_Homo sapiens_hsa002320.36072913
110Osteoclast differentiation_Homo sapiens_hsa043800.35667458
111Other glycan degradation_Homo sapiens_hsa005110.34272051
112Pertussis_Homo sapiens_hsa051330.33169565
113Sphingolipid signaling pathway_Homo sapiens_hsa040710.32959790
114PPAR signaling pathway_Homo sapiens_hsa033200.32806718
115Glucagon signaling pathway_Homo sapiens_hsa049220.31961537
116cAMP signaling pathway_Homo sapiens_hsa040240.31452070
117Calcium signaling pathway_Homo sapiens_hsa040200.30918860

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