BGN

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 small leucine-rich proteoglycan (SLRP) family of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein, which plays a role in bone growth, muscle development and regeneration, and collagen fibril assembly in multiple tissues. This protein may also regulate inflammation and innate immunity. Additionally, the encoded protein may contribute to atherosclerosis and aortic valve stenosis in human patients. This gene and the related gene decorin are thought to be the result of a gene duplication. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1protein heterotrimerization (GO:0070208)8.11324358
2collagen fibril organization (GO:0030199)7.71852772
3chondrocyte proliferation (GO:0035988)6.59381226
4bone trabecula formation (GO:0060346)6.32515878
5sequestering of extracellular ligand from receptor (GO:0035581)5.90026955
6endodermal cell differentiation (GO:0035987)5.65568544
7skin morphogenesis (GO:0043589)5.29394205
8collagen metabolic process (GO:0032963)5.04129782
9collagen catabolic process (GO:0030574)4.96407648
10extracellular fibril organization (GO:0043206)4.91533211
11regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)4.75245774
12multicellular organismal macromolecule metabolic process (GO:0044259)4.73237040
13keratan sulfate catabolic process (GO:0042340)4.67366266
14multicellular organismal catabolic process (GO:0044243)4.57353936
15fibril organization (GO:0097435)4.50700068
16multicellular organismal metabolic process (GO:0044236)4.47583790
17cartilage development involved in endochondral bone morphogenesis (GO:0060351)4.34023634
18extracellular matrix disassembly (GO:0022617)4.32252195
19cell adhesion mediated by integrin (GO:0033627)4.29928928
20basement membrane organization (GO:0071711)4.26080046
21negative regulation of fatty acid transport (GO:2000192)4.23271379
22positive regulation of endothelial cell apoptotic process (GO:2000353)4.23151998
23neuron projection extension involved in neuron projection guidance (GO:1902284)4.17587757
24axon extension involved in axon guidance (GO:0048846)4.17587757
25extracellular matrix assembly (GO:0085029)4.16957559
26wound healing, spreading of epidermal cells (GO:0035313)4.12006340
27mesenchymal-epithelial cell signaling (GO:0060638)4.02966182
28peptidyl-proline hydroxylation (GO:0019511)3.99022140
29retina vasculature morphogenesis in camera-type eye (GO:0061299)3.95050876
30metanephric mesenchyme development (GO:0072075)3.83088166
31regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.76079777
32cellular response to vitamin (GO:0071295)3.71057075
33blood vessel maturation (GO:0001955)3.66355605
34* dermatan sulfate biosynthetic process (GO:0030208)3.65249880
35craniofacial suture morphogenesis (GO:0097094)3.60075393
36kidney mesenchyme development (GO:0072074)3.57764224
37glomerular basement membrane development (GO:0032836)3.57119605
38negative regulation of chondrocyte differentiation (GO:0032331)3.55932263
39endothelial cell morphogenesis (GO:0001886)3.54371463
40* extracellular matrix organization (GO:0030198)3.51217585
41* extracellular structure organization (GO:0043062)3.49780563
42atrioventricular valve morphogenesis (GO:0003181)3.47338864
43plasma membrane repair (GO:0001778)3.47109998
44chondrocyte development (GO:0002063)3.45406268
45vascular endothelial growth factor receptor signaling pathway (GO:0048010)3.44488413
46type B pancreatic cell proliferation (GO:0044342)3.43899852
47apoptotic cell clearance (GO:0043277)3.42876361
48vascular endothelial growth factor signaling pathway (GO:0038084)3.41826183
49protein hydroxylation (GO:0018126)3.40600691
50protein retention in ER lumen (GO:0006621)3.39264012
51venous blood vessel morphogenesis (GO:0048845)3.35479370
52lymphangiogenesis (GO:0001946)3.32582262
53maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.32049702
54positive regulation of extracellular matrix organization (GO:1903055)3.31025747
55* dermatan sulfate metabolic process (GO:0030205)3.29138945
56epithelial cell-cell adhesion (GO:0090136)3.25990634
57cell migration involved in heart development (GO:0060973)3.23137602
58positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr3.22543184
59wound healing, spreading of cells (GO:0044319)3.21599440
60epoxygenase P450 pathway (GO:0019373)3.19163551
61cellular response to vitamin D (GO:0071305)3.19132935
62extracellular regulation of signal transduction (GO:1900115)3.19126976
63extracellular negative regulation of signal transduction (GO:1900116)3.19126976
64positive regulation of epithelial to mesenchymal transition (GO:0010718)3.18246898
65lymph vessel development (GO:0001945)3.17003328
66positive regulation of blood vessel endothelial cell migration (GO:0043536)3.16692764
67outer ear morphogenesis (GO:0042473)3.15692303
68regulation of plasminogen activation (GO:0010755)3.12451138
69regulation of tight junction assembly (GO:2000810)3.09367226
70endothelial cell proliferation (GO:0001935)3.07728996
71positive regulation of osteoblast proliferation (GO:0033690)3.06744169
72cellular response to amino acid stimulus (GO:0071230)3.06615853
73endocardial cushion development (GO:0003197)3.05781340
74cell proliferation involved in metanephros development (GO:0072203)3.03743763
75trabecula formation (GO:0060343)3.01167125
76embryonic cranial skeleton morphogenesis (GO:0048701)3.00679579
77semaphorin-plexin signaling pathway (GO:0071526)2.99975843
78adhesion of symbiont to host cell (GO:0044650)2.99663511
79virion attachment to host cell (GO:0019062)2.99663511
80cellular response to interferon-alpha (GO:0035457)2.98289370
81positive regulation of receptor recycling (GO:0001921)2.98059198
82negative regulation of cartilage development (GO:0061037)2.97730324
83regulation of extracellular matrix disassembly (GO:0010715)2.97397948
84regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition 2.97323574
85planar cell polarity pathway involved in neural tube closure (GO:0090179)2.95793588
86substrate adhesion-dependent cell spreading (GO:0034446)2.94630652
87substrate-dependent cell migration (GO:0006929)2.94264515
88endothelial cell chemotaxis (GO:0035767)2.93809799
89renal filtration (GO:0097205)2.93165614
90glomerular filtration (GO:0003094)2.93031935
91protein localization to cell surface (GO:0034394)2.91849422
92regulation of collagen metabolic process (GO:0010712)2.88339750
93endothelium development (GO:0003158)2.86654940
94cell-substrate junction assembly (GO:0007044)2.86580713
95regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.85530631
96regulation of integrin-mediated signaling pathway (GO:2001044)2.85328651
97protein trimerization (GO:0070206)2.85086286
98positive regulation of collagen biosynthetic process (GO:0032967)2.84473439
99regulation of branching involved in salivary gland morphogenesis (GO:0060693)2.84465580
100negative regulation of catenin import into nucleus (GO:0035414)2.84085679
101tooth mineralization (GO:0034505)2.80266859
102negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)2.80003568
103smooth muscle tissue development (GO:0048745)2.79995168
104omega-hydroxylase P450 pathway (GO:0097267)2.79988170
105wound healing (GO:0042060)2.79895270
106negative regulation of smooth muscle cell migration (GO:0014912)2.79818062
107barbed-end actin filament capping (GO:0051016)2.79155164
108negative regulation of homotypic cell-cell adhesion (GO:0034111)2.78804246
109stress fiber assembly (GO:0043149)2.77917454
110cell migration involved in sprouting angiogenesis (GO:0002042)2.76444390
111middle ear morphogenesis (GO:0042474)2.75760905
112hippo signaling (GO:0035329)2.74508121
113endocrine hormone secretion (GO:0060986)2.72785740
114response to fluid shear stress (GO:0034405)2.71414076
115Golgi transport vesicle coating (GO:0048200)2.70054281
116COPI coating of Golgi vesicle (GO:0048205)2.70054281
117G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071992.69738211
118adhesion of symbiont to host (GO:0044406)2.69238935
119cellular response to vascular endothelial growth factor stimulus (GO:0035924)2.68445264
120adherens junction assembly (GO:0034333)2.68078478
121regulation of cartilage development (GO:0061035)2.67950264
122positive regulation of collagen metabolic process (GO:0010714)2.66376822
123regulation of collagen biosynthetic process (GO:0032965)2.65934125
124regulation of cell migration involved in sprouting angiogenesis (GO:0090049)2.62700345
125regulation of axon extension involved in axon guidance (GO:0048841)2.61439875
126glial cell migration (GO:0008347)2.61377204
127artery morphogenesis (GO:0048844)2.61134620
128regulation of chondrocyte differentiation (GO:0032330)2.58492937
129cochlea morphogenesis (GO:0090103)2.55208473
130negative regulation of platelet activation (GO:0010544)2.55202146
131* glycosaminoglycan catabolic process (GO:0006027)2.53406789
132negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)2.52793830

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human7.42438031
2RARG_19884340_ChIP-ChIP_MEFs_Mouse5.37467721
3TP63_17297297_ChIP-ChIP_HaCaT_Human5.08791063
4PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse4.56760909
5CLOCK_20551151_ChIP-Seq_293T_Human3.43171118
6TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human3.26489846
7* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse3.12896524
8CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse2.89318572
9* CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.87514725
10CJUN_26792858_Chip-Seq_BT549_Human2.78161388
11ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.71621782
12TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.66758133
13NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.58070390
14WT1_19549856_ChIP-ChIP_CCG9911_Human2.48340312
15BRD4_25478319_ChIP-Seq_HGPS_Human2.27146493
16EP300_21415370_ChIP-Seq_HL-1_Mouse2.17305049
17NRF2_20460467_ChIP-Seq_MEFs_Mouse2.07718729
18NFE2L2_20460467_ChIP-Seq_MEFs_Mouse2.07718729
19WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse2.05015831
20EGR1_19374776_ChIP-ChIP_THP-1_Human1.99636599
21SMAD_19615063_ChIP-ChIP_OVARY_Human1.97760668
22EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.91595073
23HIF1A_21447827_ChIP-Seq_MCF-7_Human1.90692238
24ESR1_21235772_ChIP-Seq_MCF-7_Human1.90429590
25ELK3_25401928_ChIP-Seq_HUVEC_Human1.82540855
26TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.77532102
27SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.71602408
28PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.70277598
29PPAR_26484153_Chip-Seq_NCI-H1993_Human1.68766484
30JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.65488785
31SMC1_22415368_ChIP-Seq_MEFs_Mouse1.64932558
32ESR2_21235772_ChIP-Seq_MCF-7_Human1.61399777
33JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.58578942
34TP53_20018659_ChIP-ChIP_R1E_Mouse1.57632403
35TP53_18474530_ChIP-ChIP_U2OS_Human1.57622555
36EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.56207733
37EED_16625203_ChIP-ChIP_MESCs_Mouse1.55677654
38ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.54927893
39CDX2_19796622_ChIP-Seq_MESCs_Mouse1.51843171
40SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.50440447
41SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.50440447
42SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.49379655
43FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.47347655
44P300_27058665_Chip-Seq_ZR-75-30cells_Human1.42926398
45DROSHA_22980978_ChIP-Seq_HELA_Human1.40263141
46MTF2_20144788_ChIP-Seq_MESCs_Mouse1.39556283
47TP53_16413492_ChIP-PET_HCT116_Human1.39316931
48NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.38709279
49* RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.36261213
50MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.35820750
51SALL4_18804426_ChIP-ChIP_XEN_Mouse1.35818994
52MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.33124389
53* SOX2_20726797_ChIP-Seq_SW620_Human1.33022588
54* UBF1/2_26484160_Chip-Seq_HMECs_Human1.32427682
55GATA2_21666600_ChIP-Seq_HMVEC_Human1.30427665
56TP53_23651856_ChIP-Seq_MEFs_Mouse1.29840481
57ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.28559307
58TBX20_22080862_ChIP-Seq_HEART_Mouse1.28245028
59TBX20_22328084_ChIP-Seq_HEART_Mouse1.28245028
60RNF2_18974828_ChIP-Seq_MESCs_Mouse1.27442321
61EZH2_18974828_ChIP-Seq_MESCs_Mouse1.27442321
62SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.25425366
63NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.25276672
64SMC3_22415368_ChIP-Seq_MEFs_Mouse1.23835843
65STAT6_21828071_ChIP-Seq_BEAS2B_Human1.23565928
66RNF2_27304074_Chip-Seq_ESCs_Mouse1.22495368
67CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.22375801
68UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.21524879
69TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.21366996
70SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.21021046
71HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.20567643
72ATF3_27146783_Chip-Seq_COLON_Human1.20071122
73SOX9_24532713_ChIP-Seq_HFSC_Mouse1.18607611
74* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.18600362
75SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.17444694
76DNAJC2_21179169_ChIP-ChIP_NT2_Human1.17160363
77SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.17158027
78SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.16613516
79ZFP281_27345836_Chip-Seq_ESCs_Mouse1.16150228
80SA1_22415368_ChIP-Seq_MEFs_Mouse1.14638747
81CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.14390531
82SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.13642010
83TP53_22127205_ChIP-Seq_IMR90_Human1.13244370
84KDM2B_26808549_Chip-Seq_DND41_Human1.13159904
85SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.13035849
86SUZ12_27294783_Chip-Seq_ESCs_Mouse1.09964587
87ZFP281_18757296_ChIP-ChIP_E14_Mouse1.09517811
88* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.08605310
89FOXO3_23340844_ChIP-Seq_DLD1_Human1.08393541
90KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.08182502
91NFIB_24661679_ChIP-Seq_LUNG_Mouse1.07490565
92ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.05223173
93TET1_21490601_ChIP-Seq_MESCs_Mouse1.04630810
94WT1_25993318_ChIP-Seq_PODOCYTE_Human1.04086026
95P63_26484246_Chip-Seq_KERATINOCYTES_Human1.03600155
96TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.03273511
97ERG_21242973_ChIP-ChIP_JURKAT_Human1.03141954
98FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.03123983
99ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.03063438
100RACK7_27058665_Chip-Seq_MCF-7_Human1.02293874
101PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.01639745
102ZNF217_24962896_ChIP-Seq_MCF-7_Human1.01345787
103EZH2_27294783_Chip-Seq_ESCs_Mouse1.01320353
104CTCF_27219007_Chip-Seq_Bcells_Human1.01235265
105KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.01234795
106RAD21_21589869_ChIP-Seq_MESCs_Mouse1.01151570
107BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.00491513
108PPARG_20887899_ChIP-Seq_3T3-L1_Mouse1.00115143
109KDM2B_26808549_Chip-Seq_SUP-B15_Human0.99316788
110AR_21572438_ChIP-Seq_LNCaP_Human0.98600575
111ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.95294065
112ISL1_27105846_Chip-Seq_CPCs_Mouse0.94820908
113TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.94785600
114NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.94338870
115TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.94279121
116RXR_22158963_ChIP-Seq_LIVER_Mouse0.93921250
117KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.93576645
118RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.93243971
119* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.93158150
120HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.92213300
121THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.92177881
122PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.92057339
123KDM2B_26808549_Chip-Seq_JURKAT_Human0.91923245
124EZH2_27304074_Chip-Seq_ESCs_Mouse0.91351045
125* TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.89870918
126NFI_21473784_ChIP-Seq_ESCs_Mouse0.88920166
127DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.86745448
128ESR1_15608294_ChIP-ChIP_MCF-7_Human0.86190726
129LXR_22292898_ChIP-Seq_THP-1_Human0.85963635
130RBPJ_22232070_ChIP-Seq_NCS_Mouse0.83041278
131KLF5_25053715_ChIP-Seq_YYC3_Human0.82379585
132NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.82312561
133JARID2_20075857_ChIP-Seq_MESCs_Mouse0.81081126
134KDM2B_26808549_Chip-Seq_K562_Human0.80007131

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen9.32816712
2MP0005275_abnormal_skin_tensile6.01948198
3* MP0005503_abnormal_tendon_morphology5.83283281
4MP0003705_abnormal_hypodermis_morpholog4.21626683
5MP0003279_aneurysm4.11889186
6MP0001958_emphysema3.72035335
7MP0004272_abnormal_basement_membrane2.75118553
8MP0006054_spinal_hemorrhage2.68303366
9MP0009384_cardiac_valve_regurgitation2.57429653
10MP0005623_abnormal_meninges_morphology2.34046611
11* MP0005508_abnormal_skeleton_morphology2.29939207
12MP0005257_abnormal_intraocular_pressure2.23529241
13MP0002060_abnormal_skin_morphology2.20215436
14MP0002295_abnormal_pulmonary_circulatio2.04249079
15MP0003566_abnormal_cell_adhesion2.04034393
16MP0005023_abnormal_wound_healing2.01666092
17MP0010368_abnormal_lymphatic_system1.78811899
18MP0001542_abnormal_bone_strength1.78755240
19* MP0002108_abnormal_muscle_morphology1.73217304
20MP0009250_abnormal_appendicular_skeleto1.70940937
21MP0001243_abnormal_dermal_layer1.65364952
22MP0010352_gastrointestinal_tract_polyps1.59014407
23MP0010030_abnormal_orbit_morphology1.57710874
24MP0003091_abnormal_cell_migration1.57402493
25MP0003385_abnormal_body_wall1.48459028
26MP0002896_abnormal_bone_mineralization1.45646030
27MP0005409_darkened_coat_color1.44761220
28MP0004134_abnormal_chest_morphology1.41603750
29MP0000767_abnormal_smooth_muscle1.38826639
30MP0000733_abnormal_muscle_development1.35705107
31* MP0005390_skeleton_phenotype1.35522340
32MP0000013_abnormal_adipose_tissue1.31795761
33MP0002282_abnormal_trachea_morphology1.30814918
34MP0000163_abnormal_cartilage_morphology1.24604927
35MP0000751_myopathy1.24044274
36MP0001299_abnormal_eye_distance/1.23749778
37MP0003283_abnormal_digestive_organ1.23397111
38* MP0002933_joint_inflammation1.19657286
39MP0004858_abnormal_nervous_system1.16066022
40* MP0002115_abnormal_skeleton_extremities1.13877239
41MP0001849_ear_inflammation1.13420430
42MP0002168_other_aberrant_phenotype1.09893661
43MP0002877_abnormal_melanocyte_morpholog1.08608459
44MP0003115_abnormal_respiratory_system1.06768282
45MP0003045_fibrosis1.04768933
46MP0000428_abnormal_craniofacial_morphol1.04481300
47MP0000534_abnormal_ureter_morphology1.03874397
48MP0001879_abnormal_lymphatic_vessel1.01318306
49MP0001348_abnormal_lacrimal_gland1.00723222
50MP0002998_abnormal_bone_remodeling0.98994137
51* MP0002113_abnormal_skeleton_development0.97334504
52MP0003942_abnormal_urinary_system0.96613172
53MP0001533_abnormal_skeleton_physiology0.95899325
54MP0002254_reproductive_system_inflammat0.95548835
55MP0005058_abnormal_lysosome_morphology0.92120843
56MP0000003_abnormal_adipose_tissue0.91523553
57MP0009053_abnormal_anal_canal0.89478968
58* MP0002932_abnormal_joint_morphology0.89331108
59MP0000750_abnormal_muscle_regeneration0.88422129
60MP0002128_abnormal_blood_circulation0.86923930
61MP0002089_abnormal_postnatal_growth/wei0.86309944
62MP0005595_abnormal_vascular_smooth0.86136966
63MP0000049_abnormal_middle_ear0.83380048
64MP0002249_abnormal_larynx_morphology0.83177094
65MP0003755_abnormal_palate_morphology0.81089676
66MP0003448_altered_tumor_morphology0.79130462
67MP0005164_abnormal_response_to0.78851311
68MP0005076_abnormal_cell_differentiation0.78441678
69* MP0003795_abnormal_bone_structure0.78172781
70MP0001614_abnormal_blood_vessel0.77012793
71MP0000343_altered_response_to0.75372811
72MP0003950_abnormal_plasma_membrane0.74529891
73MP0001175_abnormal_lung_morphology0.74501952
74MP0000249_abnormal_blood_vessel0.73041739
75MP0002133_abnormal_respiratory_system0.71408495
76MP0005388_respiratory_system_phenotype0.71408495
77MP0000432_abnormal_head_morphology0.70829483
78MP0005171_absent_coat_pigmentation0.70405695
79MP0005165_increased_susceptibility_to0.70215436
80MP0000759_abnormal_skeletal_muscle0.69817650
81MP0002116_abnormal_craniofacial_bone0.69088043
82MP0009840_abnormal_foam_cell0.68849142
83MP0000462_abnormal_digestive_system0.68025583
84* MP0002109_abnormal_limb_morphology0.66916628
85MP0004883_abnormal_blood_vessel0.66071662
86MP0005197_abnormal_uvea_morphology0.65300461
87MP0003935_abnormal_craniofacial_develop0.65011715
88MP0000749_muscle_degeneration0.63531174
89MP0003300_gastrointestinal_ulcer0.62074905
90MP0000467_abnormal_esophagus_morphology0.61717925
91MP0002925_abnormal_cardiovascular_devel0.61545087
92MP0002233_abnormal_nose_morphology0.61310668
93MP0002111_abnormal_tail_morphology0.61144641
94MP0002837_dystrophic_cardiac_calcinosis0.60643138
95MP0004087_abnormal_muscle_fiber0.60045332
96MP0005193_abnormal_anterior_eye0.60043412
97MP0004084_abnormal_cardiac_muscle0.59576737
98MP0000678_abnormal_parathyroid_gland0.59119064
99MP0003828_pulmonary_edema0.59076003
100MP0005670_abnormal_white_adipose0.58167498
101MP0006138_congestive_heart_failure0.58123176
102MP0001177_atelectasis0.57499977
103MP0002127_abnormal_cardiovascular_syste0.57160552
104MP0001915_intracranial_hemorrhage0.56257134
105MP0000762_abnormal_tongue_morphology0.55978253
106MP0003941_abnormal_skin_development0.55576017
107* MP0005369_muscle_phenotype0.55408943
108MP0005330_cardiomyopathy0.54208021
109MP0004036_abnormal_muscle_relaxation0.53438607
110MP0005220_abnormal_exocrine_pancreas0.53429178
111MP0002114_abnormal_axial_skeleton0.53115174
112MP0003937_abnormal_limbs/digits/tail_de0.52961662
113MP0010386_abnormal_urinary_bladder0.52809206
114MP0004233_abnormal_muscle_weight0.52360375
115MP0009780_abnormal_chondrocyte_physiolo0.51853707
116MP0003252_abnormal_bile_duct0.51618444
117MP0000516_abnormal_urinary_system0.51598814
118MP0005367_renal/urinary_system_phenotyp0.51598814
119MP0000266_abnormal_heart_morphology0.50610495

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)9.83191171
2Premature rupture of membranes (HP:0001788)8.42719433
3Ankle contracture (HP:0006466)5.37592040
4Aortic dissection (HP:0002647)5.14393042
5Broad metatarsal (HP:0001783)5.00295182
6Shallow orbits (HP:0000586)4.86220971
7Soft skin (HP:0000977)4.81495070
8Peritonitis (HP:0002586)4.72093021
9Cervical subluxation (HP:0003308)4.59551095
10Atrophic scars (HP:0001075)4.41311524
11Bladder diverticulum (HP:0000015)4.36388250
12Aortic aneurysm (HP:0004942)4.30777602
13Vertebral compression fractures (HP:0002953)4.29768350
14Abnormality of dentin (HP:0010299)4.25885756
15Neonatal short-limb short stature (HP:0008921)4.20890468
16Dilatation of the ascending aorta (HP:0005111)4.11401787
17Biconcave vertebral bodies (HP:0004586)3.96513389
18Cerebral aneurysm (HP:0004944)3.94115389
19Fragile skin (HP:0001030)3.84563747
20Follicular hyperkeratosis (HP:0007502)3.82303761
21Genu recurvatum (HP:0002816)3.76456986
22Type 1 muscle fiber predominance (HP:0003803)3.62900828
23Wormian bones (HP:0002645)3.60037241
24Wrist flexion contracture (HP:0001239)3.56808043
25Blue sclerae (HP:0000592)3.54651545
26Spinal rigidity (HP:0003306)3.48758168
27Mitral valve prolapse (HP:0001634)3.43915835
28Vascular tortuosity (HP:0004948)3.18615418
29Abnormality of the acetabulum (HP:0003170)3.04896020
30Abnormal delivery (HP:0001787)3.02541278
31Bowel diverticulosis (HP:0005222)2.97692022
32Increased connective tissue (HP:0009025)2.97405905
33Hyperextensible skin (HP:0000974)2.94117454
34Aortic valve stenosis (HP:0001650)2.90487929
35Slender build (HP:0001533)2.86255716
36Overgrowth (HP:0001548)2.69633745
37Arterial tortuosity (HP:0005116)2.57268010
38Ectopia lentis (HP:0001083)2.56211706
39Obstructive sleep apnea (HP:0002870)2.55446002
40Increased variability in muscle fiber diameter (HP:0003557)2.54757632
41Aneurysm (HP:0002617)2.53546084
42Mildly elevated creatine phosphokinase (HP:0008180)2.52180746
43Thin bony cortex (HP:0002753)2.52149479
44Joint laxity (HP:0001388)2.51828424
45Elbow flexion contracture (HP:0002987)2.51334381
46Infantile muscular hypotonia (HP:0008947)2.50016974
47Breech presentation (HP:0001623)2.48936399
48Nonimmune hydrops fetalis (HP:0001790)2.44905416
49Wide anterior fontanel (HP:0000260)2.42276186
50Bell-shaped thorax (HP:0001591)2.40705472
51Spondylolisthesis (HP:0003302)2.40137729
52Camptodactyly of toe (HP:0001836)2.38088439
53Round ear (HP:0100830)2.35812838
54Osteoarthritis (HP:0002758)2.35568836
55Hypoventilation (HP:0002791)2.32494564
56Mitral regurgitation (HP:0001653)2.27549098
57Beaking of vertebral bodies (HP:0004568)2.27435601
58Osteolytic defects of the phalanges of the hand (HP:0009771)2.27223546
59Osteolytic defects of the hand bones (HP:0009699)2.27223546
60Broad ribs (HP:0000885)2.26954976
61Pulmonary artery stenosis (HP:0004415)2.26600607
62Coxa vara (HP:0002812)2.24741510
63Abnormality of skeletal muscle fiber size (HP:0012084)2.22586144
64Mild short stature (HP:0003502)2.22395773
65Deviation of the hallux (HP:0010051)2.15817189
66Joint stiffness (HP:0001387)2.15601351
67Abnormality of complement system (HP:0005339)2.07244282
68Mesomelia (HP:0003027)2.07161276
69Systemic lupus erythematosus (HP:0002725)2.06081158
70Tibial bowing (HP:0002982)2.05426879
71Hallux valgus (HP:0001822)2.05241442
72Abnormality of the peritoneum (HP:0002585)2.03868563
73Protruding ear (HP:0000411)2.02121171
74Platyspondyly (HP:0000926)2.01905334
75Complement deficiency (HP:0004431)2.01382878
76Ulnar deviation of the wrist (HP:0003049)1.97499884
77Aortic regurgitation (HP:0001659)1.96500826
78Hypoplasia of the iris (HP:0007676)1.95440207
79Limited hip movement (HP:0008800)1.95342368
80Broad long bones (HP:0005622)1.94716206
81Venous abnormality (HP:0002624)1.94228460
82Mitral stenosis (HP:0001718)1.94154861
83Short nail (HP:0001799)1.93948399
84Osteopenia (HP:0000938)1.93131893
85Decreased skull ossification (HP:0004331)1.93009382
86Premature skin wrinkling (HP:0100678)1.92861464
87Generalized amyotrophy (HP:0003700)1.91860660
88Emphysema (HP:0002097)1.90751432
89Femoral bowing (HP:0002980)1.90383267
90Hip contracture (HP:0003273)1.89058549
91Striae distensae (HP:0001065)1.88710755
92Spinal cord lesions (HP:0100561)1.88494689
93Syringomyelia (HP:0003396)1.88494689
94J-shaped sella turcica (HP:0002680)1.87605012
95Disproportionate tall stature (HP:0001519)1.87227868
96Inguinal hernia (HP:0000023)1.87226613
97Tarsal synostosis (HP:0008368)1.85350279
98Knee flexion contracture (HP:0006380)1.84957226
99Venous insufficiency (HP:0005293)1.84219980
100Abnormality of the anterior chamber (HP:0000593)1.82214524
101Buphthalmos (HP:0000557)1.81984620
102Coronal craniosynostosis (HP:0004440)1.81886576
103Abnormality of skull ossification (HP:0002703)1.81430278
104Flexion contracture of toe (HP:0005830)1.80681298
105Joint contractures involving the joints of the feet (HP:0100492)1.80681298
106Cupped ribs (HP:0000887)1.80240427
107Congenital glaucoma (HP:0001087)1.80090099
108Lymphangioma (HP:0100764)1.79910852
109Hypoplasia of the odontoid process (HP:0003311)1.79237151
110Ovoid vertebral bodies (HP:0003300)1.79015628
111Renal duplication (HP:0000075)1.78682319
112Ulnar bowing (HP:0003031)1.77481704
113Delayed closure of the anterior fontanelle (HP:0001476)1.77208620
114Upper limb amyotrophy (HP:0009129)1.76633201
115Distal upper limb amyotrophy (HP:0007149)1.76633201
116Spinal cord compression (HP:0002176)1.76334068
117Hypoplastic ischia (HP:0003175)1.73763794
118Thin skin (HP:0000963)1.73649976
119Delayed cranial suture closure (HP:0000270)1.72111571
120Abnormality of the odontoid process (HP:0003310)1.66969572
121Flat cornea (HP:0007720)1.65779480
122Flared iliac wings (HP:0002869)1.63784131
123Lumbar hyperlordosis (HP:0002938)1.62204543

Predicted kinase interactions (KEA)

RankGene SetZ-score
1DDR25.41840859
2TRIB34.31323482
3PDGFRA4.04736629
4TTN3.73613028
5LATS23.59386867
6ERN13.22959713
7LATS12.91966322
8PKN22.67900604
9EPHB22.18768725
10SIK12.14666861
11PAK22.06376101
12EPHA32.04115744
13TRPM71.91109807
14TGFBR21.89488501
15MAP3K61.84512857
16BMX1.76728802
17RIPK11.71285489
18PAK31.65124333
19PTK21.62423495
20STK38L1.60963249
21FER1.60869434
22PIM21.56504209
23PTK61.45719936
24STK31.42501270
25MYLK1.41054646
26DMPK1.40282781
27PTK2B1.39989391
28MAPK71.37206302
29LRRK21.35177082
30PDGFRB1.30617634
31TESK11.28685451
32RPS6KA41.22835274
33ERBB31.19969906
34MET1.19353693
35NEK91.19165532
36MOS1.18763107
37PAK41.18281016
38RPS6KA21.15831633
39MST1R1.15537105
40MAP3K71.13764956
41ILK1.13340290
42FGFR11.10006501
43ROCK11.09993462
44ICK1.09753957
45MARK21.06812347
46PIK3CA1.02311514
47EPHB11.01628315
48PRKD21.00228007
49LIMK10.96295613
50MAP3K30.95529975
51PIK3CG0.94728939
52EEF2K0.90023442
53MAPKAPK30.88910977
54PLK20.87636778
55TGFBR10.87585817
56MTOR0.87581402
57NTRK10.86945721
58AKT30.85877104
59MAP2K10.83506664
60FRK0.83349555
61FLT30.82913095
62FGFR40.79987281
63MUSK0.79935951
64PRKCH0.78815081
65KIT0.77852671
66DAPK30.77107860
67JAK10.74905707
68LMTK20.73695590
69HIPK20.72558653
70PRKD30.71298541
71ROCK20.70459956
72PRPF4B0.69784522
73ABL20.68748448
74RPS6KL10.67840749
75RPS6KC10.67840749
76PRKD10.66987816
77TYK20.66807165
78CDK120.65792076
79CAMK1D0.64949912
80SMG10.62240405
81MAPK150.61789066
82INSR0.60358936
83ZAP700.57874363
84MAP2K30.52927101
85RET0.52413115
86JAK30.52340221
87RPS6KA60.51791648
88PAK10.50739328
89CDC42BPA0.50521366
90PRKG20.50190318
91MAPK120.49981437
92GSK3A0.49453621
93CDK60.49012424
94TBK10.48266756
95NME20.46882794
96FGFR20.42613462
97KDR0.41884366
98TAOK10.41412616
99SRC0.40748606
100NUAK10.39987909
101FGFR30.38994559
102MAP3K100.38917901
103STK240.38895331
104CAMKK10.38751045
105MAPK40.38120641
106EPHA20.37854052
107MAP3K130.36755936
108ADRBK10.35802259
109TIE10.35570518
110PDPK10.35312693
111SCYL20.34970969
112MARK10.34797559
113TAOK20.34709539
114PAK60.34087287
115CAMK1G0.33605909
116MAPKAPK50.33142888
117ZAK0.32335640
118ERBB20.30080679
119MAPKAPK20.29423759
120WNK10.29390156
121MAPK10.29389706
122ABL10.29084274
123ERBB40.28949754
124MELK0.27807712
125PDK20.27702855
126NTRK30.26665498
127CAMK2G0.26161819
128IGF1R0.25674307
129DYRK1B0.25148518
130CAMKK20.24513990
131PRKCE0.23591510
132STK380.22328596

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045125.12943124
2Focal adhesion_Homo sapiens_hsa045103.45917949
3Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005323.33195492
4Protein digestion and absorption_Homo sapiens_hsa049743.05577601
5Malaria_Homo sapiens_hsa051442.60803110
6AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049332.54484143
7Proteoglycans in cancer_Homo sapiens_hsa052052.45299588
8Amoebiasis_Homo sapiens_hsa051462.45099729
9Bladder cancer_Homo sapiens_hsa052192.36799184
10Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.17869174
11TGF-beta signaling pathway_Homo sapiens_hsa043502.09338658
12Bacterial invasion of epithelial cells_Homo sapiens_hsa051002.08109704
13Dilated cardiomyopathy_Homo sapiens_hsa054142.06661533
14Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.01310234
15Adherens junction_Homo sapiens_hsa045201.95441868
16PI3K-Akt signaling pathway_Homo sapiens_hsa041511.85709300
17Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.81474007
18Small cell lung cancer_Homo sapiens_hsa052221.77016147
19MicroRNAs in cancer_Homo sapiens_hsa052061.65634762
20Hippo signaling pathway_Homo sapiens_hsa043901.51612079
21Chronic myeloid leukemia_Homo sapiens_hsa052201.51277604
22Melanoma_Homo sapiens_hsa052181.48830515
23Regulation of actin cytoskeleton_Homo sapiens_hsa048101.34782881
24Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.29441322
25Cyanoamino acid metabolism_Homo sapiens_hsa004601.27120545
26Basal cell carcinoma_Homo sapiens_hsa052171.26840082
27p53 signaling pathway_Homo sapiens_hsa041151.24236577
28Leukocyte transendothelial migration_Homo sapiens_hsa046701.16750505
29TNF signaling pathway_Homo sapiens_hsa046681.14327185
30Prostate cancer_Homo sapiens_hsa052151.11623129
31Hedgehog signaling pathway_Homo sapiens_hsa043401.10953126
32Glioma_Homo sapiens_hsa052141.09812850
33Viral myocarditis_Homo sapiens_hsa054161.08463631
34Pathways in cancer_Homo sapiens_hsa052001.06423332
35Glycosaminoglycan degradation_Homo sapiens_hsa005311.06307653
36Pancreatic cancer_Homo sapiens_hsa052121.05209080
37Platelet activation_Homo sapiens_hsa046111.04677738
38Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.04445706
39Shigellosis_Homo sapiens_hsa051311.04406000
40Phagosome_Homo sapiens_hsa041450.94792759
41Rap1 signaling pathway_Homo sapiens_hsa040150.94160416
42Toxoplasmosis_Homo sapiens_hsa051450.91704074
43Complement and coagulation cascades_Homo sapiens_hsa046100.91201081
44Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.89923055
45Dorso-ventral axis formation_Homo sapiens_hsa043200.81183792
46Staphylococcus aureus infection_Homo sapiens_hsa051500.80557535
47Aldosterone synthesis and secretion_Homo sapiens_hsa049250.79346699
48Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.78886176
49Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.78302449
50Central carbon metabolism in cancer_Homo sapiens_hsa052300.78298886
51HIF-1 signaling pathway_Homo sapiens_hsa040660.75479244
52HTLV-I infection_Homo sapiens_hsa051660.75415736
53Wnt signaling pathway_Homo sapiens_hsa043100.74973071
54Lysosome_Homo sapiens_hsa041420.73772817
55Tight junction_Homo sapiens_hsa045300.70155238
56Cocaine addiction_Homo sapiens_hsa050300.70101043
57Ovarian steroidogenesis_Homo sapiens_hsa049130.69564960
58Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.68930480
59Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.68514038
60Vibrio cholerae infection_Homo sapiens_hsa051100.68227456
61Renin secretion_Homo sapiens_hsa049240.67324518
62VEGF signaling pathway_Homo sapiens_hsa043700.66208024
63Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.65448053
64Insulin resistance_Homo sapiens_hsa049310.64099234
65Renin-angiotensin system_Homo sapiens_hsa046140.64034705
66Choline metabolism in cancer_Homo sapiens_hsa052310.63390823
67Axon guidance_Homo sapiens_hsa043600.63374285
68Hepatitis B_Homo sapiens_hsa051610.62499161
69Apoptosis_Homo sapiens_hsa042100.62065581
70Vascular smooth muscle contraction_Homo sapiens_hsa042700.59324145
71Caffeine metabolism_Homo sapiens_hsa002320.58866804
72Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.58174318
73Longevity regulating pathway - mammal_Homo sapiens_hsa042110.56739986
74Starch and sucrose metabolism_Homo sapiens_hsa005000.54928111
75Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.54611533
76Salmonella infection_Homo sapiens_hsa051320.54591468
77Renal cell carcinoma_Homo sapiens_hsa052110.54191326
78Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.53924373
79Thyroid hormone synthesis_Homo sapiens_hsa049180.53640361
80Estrogen signaling pathway_Homo sapiens_hsa049150.53613837
81MAPK signaling pathway_Homo sapiens_hsa040100.53532688
82Gap junction_Homo sapiens_hsa045400.53047570
83Prion diseases_Homo sapiens_hsa050200.52874658
84Colorectal cancer_Homo sapiens_hsa052100.51293204
85Ras signaling pathway_Homo sapiens_hsa040140.51282951
86Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.50610790
87cAMP signaling pathway_Homo sapiens_hsa040240.50594818
88Adipocytokine signaling pathway_Homo sapiens_hsa049200.50104056
89N-Glycan biosynthesis_Homo sapiens_hsa005100.48909536
90Other glycan degradation_Homo sapiens_hsa005110.48905528
91Bile secretion_Homo sapiens_hsa049760.47884410
92Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.47282018
93Melanogenesis_Homo sapiens_hsa049160.47180142
94Acute myeloid leukemia_Homo sapiens_hsa052210.46789073
95Leishmaniasis_Homo sapiens_hsa051400.46263203
96Oxytocin signaling pathway_Homo sapiens_hsa049210.45975605
97GnRH signaling pathway_Homo sapiens_hsa049120.45779263
98Neurotrophin signaling pathway_Homo sapiens_hsa047220.45574420
99PPAR signaling pathway_Homo sapiens_hsa033200.45359354
100Endocytosis_Homo sapiens_hsa041440.45079411
101FoxO signaling pathway_Homo sapiens_hsa040680.44437117
102Notch signaling pathway_Homo sapiens_hsa043300.43502196
103Pertussis_Homo sapiens_hsa051330.43372453
104Insulin secretion_Homo sapiens_hsa049110.43280473
105mTOR signaling pathway_Homo sapiens_hsa041500.43024878
106Lysine degradation_Homo sapiens_hsa003100.42820456
107Viral carcinogenesis_Homo sapiens_hsa052030.41079764
108Arachidonic acid metabolism_Homo sapiens_hsa005900.40967981
109Phospholipase D signaling pathway_Homo sapiens_hsa040720.40918859
110Osteoclast differentiation_Homo sapiens_hsa043800.40648321
111Endometrial cancer_Homo sapiens_hsa052130.40437135
112AMPK signaling pathway_Homo sapiens_hsa041520.39713589
113Gastric acid secretion_Homo sapiens_hsa049710.39505047
114Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.38948207
115Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.38595689
116Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.35366148
117cGMP-PKG signaling pathway_Homo sapiens_hsa040220.34816746
118Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.34511879
119Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.34320640
120Insulin signaling pathway_Homo sapiens_hsa049100.33580860
121Rheumatoid arthritis_Homo sapiens_hsa053230.33314517
122Arginine and proline metabolism_Homo sapiens_hsa003300.32837173
123Calcium signaling pathway_Homo sapiens_hsa040200.32641104
124Thyroid hormone signaling pathway_Homo sapiens_hsa049190.32543005
125Glucagon signaling pathway_Homo sapiens_hsa049220.31033874

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