THBS2

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 belongs to the thrombospondin family. It is a disulfide-linked homotrimeric glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. This protein has been shown to function as a potent inhibitor of tumor growth and angiogenesis. Studies of the mouse counterpart suggest that this protein may modulate the cell surface properties of mesenchymal cells and be involved in cell adhesion and migration. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1collagen fibril organization (GO:0030199)8.13424692
2protein heterotrimerization (GO:0070208)8.06640077
3chondrocyte proliferation (GO:0035988)6.81396438
4bone trabecula formation (GO:0060346)6.59374943
5skin morphogenesis (GO:0043589)5.92052823
6endodermal cell differentiation (GO:0035987)5.82609079
7sequestering of extracellular ligand from receptor (GO:0035581)5.71288832
8collagen metabolic process (GO:0032963)5.67085779
9collagen catabolic process (GO:0030574)5.63811251
10multicellular organismal macromolecule metabolic process (GO:0044259)5.29825852
11axon extension involved in axon guidance (GO:0048846)5.23979867
12neuron projection extension involved in neuron projection guidance (GO:1902284)5.23979867
13multicellular organismal catabolic process (GO:0044243)5.15777255
14mesenchymal-epithelial cell signaling (GO:0060638)5.11618922
15cellular response to vitamin (GO:0071295)5.05895681
16multicellular organismal metabolic process (GO:0044236)5.00278599
17regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)4.85436398
18dermatan sulfate biosynthetic process (GO:0030208)4.72826127
19extracellular matrix disassembly (GO:0022617)4.60277054
20cellular response to vitamin D (GO:0071305)4.46573712
21type B pancreatic cell proliferation (GO:0044342)4.46436967
22positive regulation of endothelial cell apoptotic process (GO:2000353)4.42500637
23extracellular fibril organization (GO:0043206)4.42437651
24cell adhesion mediated by integrin (GO:0033627)4.34879159
25dermatan sulfate metabolic process (GO:0030205)4.29125721
26basement membrane organization (GO:0071711)4.19316455
27negative regulation of fatty acid transport (GO:2000192)4.17786054
28fibril organization (GO:0097435)4.13230903
29extracellular matrix assembly (GO:0085029)4.07921944
30apoptotic cell clearance (GO:0043277)3.99723652
31peptidyl-proline hydroxylation (GO:0019511)3.99590247
32metanephric mesenchyme development (GO:0072075)3.94232098
33regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.86407122
34cartilage development involved in endochondral bone morphogenesis (GO:0060351)3.82037366
35planar cell polarity pathway involved in neural tube closure (GO:0090179)3.77495586
36negative regulation of chondrocyte differentiation (GO:0032331)3.73186214
37craniofacial suture morphogenesis (GO:0097094)3.72349956
38cellular response to interferon-alpha (GO:0035457)3.66688104
39endothelial cell morphogenesis (GO:0001886)3.66090444
40kidney mesenchyme development (GO:0072074)3.63871590
41cellular response to amino acid stimulus (GO:0071230)3.63344500
42wound healing, spreading of epidermal cells (GO:0035313)3.57819680
43regulation of plasminogen activation (GO:0010755)3.57469033
44regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.56660062
45keratan sulfate catabolic process (GO:0042340)3.56140778
46positive regulation of osteoblast proliferation (GO:0033690)3.55409191
47virion attachment to host cell (GO:0019062)3.54842662
48adhesion of symbiont to host cell (GO:0044650)3.54842662
49plasma membrane repair (GO:0001778)3.49060530
50chondrocyte development (GO:0002063)3.48820036
51extracellular matrix organization (GO:0030198)3.46556351
52extracellular structure organization (GO:0043062)3.45118141
53protein hydroxylation (GO:0018126)3.42413673
54protein retention in ER lumen (GO:0006621)3.36128347
55vascular endothelial growth factor signaling pathway (GO:0038084)3.34861972
56positive regulation of fibroblast migration (GO:0010763)3.34337979
57glomerular basement membrane development (GO:0032836)3.28932335
58blood vessel maturation (GO:0001955)3.24036686
59negative regulation of adherens junction organization (GO:1903392)3.23265010
60negative regulation of focal adhesion assembly (GO:0051895)3.23265010
61negative regulation of cell junction assembly (GO:1901889)3.23265010
62maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.22764462
63chondroitin sulfate catabolic process (GO:0030207)3.21902636
64positive regulation of astrocyte differentiation (GO:0048711)3.21165924
65positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr3.19752337
66negative regulation of smooth muscle cell migration (GO:0014912)3.18190898
67embryonic cranial skeleton morphogenesis (GO:0048701)3.18173154
68glial cell migration (GO:0008347)3.16218147
69regulation of extracellular matrix disassembly (GO:0010715)3.16115825
70positive regulation of extracellular matrix organization (GO:1903055)3.12155283
71regulation of branching involved in salivary gland morphogenesis (GO:0060693)3.11940667
72peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)3.11085841
73endocardial cushion development (GO:0003197)3.09253152
74regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition 3.07980417
75substrate-dependent cell migration (GO:0006929)3.07671795
76extracellular negative regulation of signal transduction (GO:1900116)3.07176173
77extracellular regulation of signal transduction (GO:1900115)3.07176173
78outer ear morphogenesis (GO:0042473)3.04569898
79cell-substrate junction assembly (GO:0007044)3.03260485
80insulin-like growth factor receptor signaling pathway (GO:0048009)3.00696198
81negative regulation of catenin import into nucleus (GO:0035414)3.00668387
82trabecula formation (GO:0060343)3.00654448
83negative regulation of cartilage development (GO:0061037)2.99700983
84G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071992.99484087
85Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.98912325
86positive regulation of epithelial to mesenchymal transition (GO:0010718)2.97019955
87adhesion of symbiont to host (GO:0044406)2.95761771
88cellular response to nutrient (GO:0031670)2.94717100
89positive regulation of blood vessel endothelial cell migration (GO:0043536)2.94355702
90cell migration involved in heart development (GO:0060973)2.92387078
91stress fiber assembly (GO:0043149)2.91664232
92retina vasculature morphogenesis in camera-type eye (GO:0061299)2.90823893
93protein localization to cell surface (GO:0034394)2.89296941
94negative regulation of homotypic cell-cell adhesion (GO:0034111)2.89012256
95endothelial cell proliferation (GO:0001935)2.87215959
96tooth mineralization (GO:0034505)2.86905670
97cell migration involved in sprouting angiogenesis (GO:0002042)2.86650131
98regulation of establishment of planar polarity (GO:0090175)2.86234623
99cellular response to vascular endothelial growth factor stimulus (GO:0035924)2.85022892
100venous blood vessel morphogenesis (GO:0048845)2.84902174
101vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.84671420
102wound healing, spreading of cells (GO:0044319)2.84042392
103substrate adhesion-dependent cell spreading (GO:0034446)2.81779957
104regulation of chemokine-mediated signaling pathway (GO:0070099)2.80856920
105regulation of tight junction assembly (GO:2000810)2.80662078
106barbed-end actin filament capping (GO:0051016)2.78938608
107hemidesmosome assembly (GO:0031581)2.78786044
108Golgi transport vesicle coating (GO:0048200)2.78617667
109COPI coating of Golgi vesicle (GO:0048205)2.78617667
110smooth muscle tissue development (GO:0048745)2.78174363
111middle ear morphogenesis (GO:0042474)2.78115761
112hyaluronan catabolic process (GO:0030214)2.77302260
113negative regulation of embryonic development (GO:0045992)2.76894588
114wound healing (GO:0042060)2.76570270
115epithelial cell-cell adhesion (GO:0090136)2.75806588
116regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)2.74706954
117cochlea morphogenesis (GO:0090103)2.74467766
118hippo signaling (GO:0035329)2.72235025
119chondroitin sulfate biosynthetic process (GO:0030206)2.72154289
120muscle cell migration (GO:0014812)2.71365447
121endochondral ossification (GO:0001958)2.71118636
122replacement ossification (GO:0036075)2.71118636
123response to fluid shear stress (GO:0034405)2.70314565
124negative regulation of leukocyte chemotaxis (GO:0002689)2.69430206
125glycosaminoglycan catabolic process (GO:0006027)2.68759624
126protein trimerization (GO:0070206)2.67523146
127negative regulation of BMP signaling pathway (GO:0030514)2.63998458
128heparan sulfate proteoglycan biosynthetic process (GO:0015012)2.63694130
129establishment of planar polarity (GO:0001736)2.62737901
130establishment of tissue polarity (GO:0007164)2.62737901

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human7.22297862
2TP63_17297297_ChIP-ChIP_HaCaT_Human5.86110055
3RARG_19884340_ChIP-ChIP_MEFs_Mouse5.18100485
4* PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse4.17796940
5CLOCK_20551151_ChIP-Seq_293T_Human3.16460860
6RUNX2_24764292_ChIP-Seq_MC3T3_Mouse3.12063788
7TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human3.03667267
8WT1_19549856_ChIP-ChIP_CCG9911_Human3.00849369
9* CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse2.99282590
10NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.93376933
11CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.89605278
12* ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.69798523
13* CJUN_26792858_Chip-Seq_BT549_Human2.59099438
14TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.43116297
15* BRD4_25478319_ChIP-Seq_HGPS_Human2.25488265
16NFE2L2_20460467_ChIP-Seq_MEFs_Mouse2.21352546
17NRF2_20460467_ChIP-Seq_MEFs_Mouse2.21352546
18WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse2.13728383
19EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.95510433
20* EP300_21415370_ChIP-Seq_HL-1_Mouse1.95177748
21HIF1A_21447827_ChIP-Seq_MCF-7_Human1.94878566
22EGR1_19374776_ChIP-ChIP_THP-1_Human1.94316903
23SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.86796815
24PPAR_26484153_Chip-Seq_NCI-H1993_Human1.75234892
25TP53_20018659_ChIP-ChIP_R1E_Mouse1.66177828
26SMC1_22415368_ChIP-Seq_MEFs_Mouse1.62608562
27EED_16625203_ChIP-ChIP_MESCs_Mouse1.62164811
28SMAD_19615063_ChIP-ChIP_OVARY_Human1.61738524
29ELK3_25401928_ChIP-Seq_HUVEC_Human1.60741194
30TP53_16413492_ChIP-PET_HCT116_Human1.59527878
31CDX2_19796622_ChIP-Seq_MESCs_Mouse1.55753741
32ESR1_21235772_ChIP-Seq_MCF-7_Human1.55690063
33P300_27058665_Chip-Seq_ZR-75-30cells_Human1.54771647
34SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.54436375
35SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.54436375
36* TP53_18474530_ChIP-ChIP_U2OS_Human1.52661013
37CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.52610447
38RNF2_18974828_ChIP-Seq_MESCs_Mouse1.44783859
39EZH2_18974828_ChIP-Seq_MESCs_Mouse1.44783859
40JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.44665753
41JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.44625765
42FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.41763799
43ESR2_21235772_ChIP-Seq_MCF-7_Human1.41756898
44HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.41752254
45RBPJ_22232070_ChIP-Seq_NCS_Mouse1.40822263
46TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.40030073
47ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.37479185
48* UBF1/2_26484160_Chip-Seq_HMECs_Human1.36748333
49SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.35430867
50MTF2_20144788_ChIP-Seq_MESCs_Mouse1.34969100
51TP53_23651856_ChIP-Seq_MEFs_Mouse1.34750685
52SOX9_24532713_ChIP-Seq_HFSC_Mouse1.31124837
53SOX2_20726797_ChIP-Seq_SW620_Human1.29411995
54ATF3_27146783_Chip-Seq_COLON_Human1.29080769
55SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.27105239
56SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.26787859
57SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.26313903
58SALL4_18804426_ChIP-ChIP_XEN_Mouse1.21241994
59SA1_22415368_ChIP-Seq_MEFs_Mouse1.20355967
60* LXR_22292898_ChIP-Seq_THP-1_Human1.20033003
61SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.19590870
62ZFP281_18757296_ChIP-ChIP_E14_Mouse1.19076557
63MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.18841861
64UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.18760907
65FOXO3_23340844_ChIP-Seq_DLD1_Human1.16952218
66* RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.16729318
67* TP53_22127205_ChIP-Seq_IMR90_Human1.15651745
68SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.13820664
69SMC3_22415368_ChIP-Seq_MEFs_Mouse1.13665972
70ESR1_15608294_ChIP-ChIP_MCF-7_Human1.13632673
71RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.13616128
72PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.12572486
73* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.11737630
74* NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.10934416
75ZNF217_24962896_ChIP-Seq_MCF-7_Human1.10456205
76TBX20_22080862_ChIP-Seq_HEART_Mouse1.10432047
77TBX20_22328084_ChIP-Seq_HEART_Mouse1.10432047
78EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.10356913
79RNF2_27304074_Chip-Seq_ESCs_Mouse1.10250265
80STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.09044027
81FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.08121110
82SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.08119526
83* TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.08028579
84KDM2B_26808549_Chip-Seq_SUP-B15_Human1.07164701
85NFIB_24661679_ChIP-Seq_LUNG_Mouse1.06767485
86CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.06243267
87WT1_25993318_ChIP-Seq_PODOCYTE_Human1.05339642
88POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.03991608
89EZH2_27304074_Chip-Seq_ESCs_Mouse1.02899129
90NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.02036227
91GATA2_21666600_ChIP-Seq_HMVEC_Human0.99974470
92KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.99695937
93ISL1_27105846_Chip-Seq_CPCs_Mouse0.99303084
94PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.99122023
95TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.98326010
96DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.98151726
97MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.96720494
98PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.96655360
99ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.96328777
100* SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.95166746
101* P63_26484246_Chip-Seq_KERATINOCYTES_Human0.93585990
102* PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.92006980
103RACK7_27058665_Chip-Seq_MCF-7_Human0.91392341
104NFI_21473784_ChIP-Seq_ESCs_Mouse0.90468802
105JARID2_20064375_ChIP-Seq_MESCs_Mouse0.90060594
106RING1B_27294783_Chip-Seq_ESCs_Mouse0.89765523
107NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.89592459
108JARID2_20075857_ChIP-Seq_MESCs_Mouse0.89261889
109ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.88425832
110PIAS1_25552417_ChIP-Seq_VCAP_Human0.88327761
111TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.86786050
112ZFP281_27345836_Chip-Seq_ESCs_Mouse0.85877332
113SUZ12_27294783_Chip-Seq_ESCs_Mouse0.85765640
114* ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.85559415
115SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.84946074
116ERG_21242973_ChIP-ChIP_JURKAT_Human0.84566477
117CTNNB1_20460455_ChIP-Seq_HCT116_Human0.84302025
118THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.83802300
119KDM2B_26808549_Chip-Seq_K562_Human0.82486586

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1* MP0008438_abnormal_cutaneous_collagen9.53866336
2* MP0005275_abnormal_skin_tensile5.51039142
3* MP0005503_abnormal_tendon_morphology5.22778424
4MP0003705_abnormal_hypodermis_morpholog4.36759571
5MP0003279_aneurysm4.16982459
6MP0001958_emphysema3.59070376
7MP0005623_abnormal_meninges_morphology3.04325852
8MP0006054_spinal_hemorrhage2.80803197
9MP0004272_abnormal_basement_membrane2.77136865
10MP0009384_cardiac_valve_regurgitation2.66440433
11MP0005257_abnormal_intraocular_pressure2.43160401
12* MP0002060_abnormal_skin_morphology2.26406394
13* MP0005508_abnormal_skeleton_morphology2.22162535
14MP0001542_abnormal_bone_strength2.03098506
15MP0002295_abnormal_pulmonary_circulatio1.91921114
16* MP0005023_abnormal_wound_healing1.86116304
17MP0003566_abnormal_cell_adhesion1.85593662
18MP0003283_abnormal_digestive_organ1.79846743
19MP0003091_abnormal_cell_migration1.74327123
20MP0010352_gastrointestinal_tract_polyps1.73381511
21MP0002896_abnormal_bone_mineralization1.68753762
22* MP0002108_abnormal_muscle_morphology1.63925515
23MP0009250_abnormal_appendicular_skeleto1.62028074
24MP0001243_abnormal_dermal_layer1.61389462
25MP0003385_abnormal_body_wall1.58957312
26MP0000013_abnormal_adipose_tissue1.42049204
27MP0001299_abnormal_eye_distance/1.40596449
28MP0010030_abnormal_orbit_morphology1.37471156
29MP0000733_abnormal_muscle_development1.34845893
30MP0004134_abnormal_chest_morphology1.34007470
31MP0005171_absent_coat_pigmentation1.31774159
32MP0003045_fibrosis1.29912711
33* MP0005390_skeleton_phenotype1.29385052
34MP0002933_joint_inflammation1.27417657
35MP0002168_other_aberrant_phenotype1.24166520
36MP0002998_abnormal_bone_remodeling1.23587561
37MP0002115_abnormal_skeleton_extremities1.21571137
38MP0002877_abnormal_melanocyte_morpholog1.21433139
39MP0002282_abnormal_trachea_morphology1.19460364
40MP0000767_abnormal_smooth_muscle1.16780054
41MP0000163_abnormal_cartilage_morphology1.15012583
42MP0000428_abnormal_craniofacial_morphol1.14868651
43MP0001348_abnormal_lacrimal_gland1.13546590
44MP0000751_myopathy1.10242095
45MP0000534_abnormal_ureter_morphology1.04308682
46MP0002932_abnormal_joint_morphology1.02652437
47MP0002113_abnormal_skeleton_development0.99219317
48MP0005076_abnormal_cell_differentiation0.98707852
49MP0009780_abnormal_chondrocyte_physiolo0.98387888
50MP0003115_abnormal_respiratory_system0.95780010
51MP0003950_abnormal_plasma_membrane0.93590731
52MP0009053_abnormal_anal_canal0.92647930
53MP0010386_abnormal_urinary_bladder0.92430459
54MP0003942_abnormal_urinary_system0.91567417
55MP0001533_abnormal_skeleton_physiology0.91291908
56MP0002089_abnormal_postnatal_growth/wei0.89921482
57MP0003300_gastrointestinal_ulcer0.88914511
58* MP0003795_abnormal_bone_structure0.85281767
59MP0000003_abnormal_adipose_tissue0.84802287
60MP0005164_abnormal_response_to0.84364967
61MP0000462_abnormal_digestive_system0.82911861
62MP0003448_altered_tumor_morphology0.81694524
63MP0003755_abnormal_palate_morphology0.81678451
64MP0000762_abnormal_tongue_morphology0.80475574
65MP0005595_abnormal_vascular_smooth0.79472772
66MP0004883_abnormal_blood_vessel0.79307283
67MP0000750_abnormal_muscle_regeneration0.78512880
68MP0010368_abnormal_lymphatic_system0.77017363
69MP0002109_abnormal_limb_morphology0.75741392
70MP0000049_abnormal_middle_ear0.75677474
71MP0000432_abnormal_head_morphology0.75635738
72* MP0002128_abnormal_blood_circulation0.72589845
73MP0000516_abnormal_urinary_system0.69669408
74MP0005367_renal/urinary_system_phenotyp0.69669408
75MP0000759_abnormal_skeletal_muscle0.69596511
76MP0002116_abnormal_craniofacial_bone0.69137540
77MP0002249_abnormal_larynx_morphology0.67485607
78MP0009278_abnormal_bone_marrow0.67195326
79MP0001915_intracranial_hemorrhage0.65188086
80MP0003935_abnormal_craniofacial_develop0.64328741
81MP0005388_respiratory_system_phenotype0.64118194
82MP0002133_abnormal_respiratory_system0.64118194
83* MP0001614_abnormal_blood_vessel0.64080234
84MP0000858_altered_metastatic_potential0.62361999
85MP0002254_reproductive_system_inflammat0.62300063
86MP0003941_abnormal_skin_development0.62149402
87MP0004858_abnormal_nervous_system0.62144901
88MP0001175_abnormal_lung_morphology0.61776650
89MP0005197_abnormal_uvea_morphology0.61405110
90* MP0010771_integument_phenotype0.60993683
91MP0004084_abnormal_cardiac_muscle0.60469576
92MP0001177_atelectasis0.60413380
93MP0004233_abnormal_muscle_weight0.60171509
94MP0005408_hypopigmentation0.60101299
95MP0005058_abnormal_lysosome_morphology0.59733131
96MP0000467_abnormal_esophagus_morphology0.59631316
97MP0000343_altered_response_to0.58762426
98MP0002233_abnormal_nose_morphology0.58288454
99* MP0002111_abnormal_tail_morphology0.57413079
100MP0005193_abnormal_anterior_eye0.56850249
101MP0010307_abnormal_tumor_latency0.55955845
102MP0000569_abnormal_digit_pigmentation0.55854891
103* MP0002114_abnormal_axial_skeleton0.55291551
104MP0001849_ear_inflammation0.54665137
105MP0004808_abnormal_hematopoietic_stem0.54463946
106MP0003937_abnormal_limbs/digits/tail_de0.54248981
107MP0005409_darkened_coat_color0.53946172
108MP0004036_abnormal_muscle_relaxation0.53064973
109MP0005375_adipose_tissue_phenotype0.52955824
110* MP0005369_muscle_phenotype0.52623656
111MP0001879_abnormal_lymphatic_vessel0.52477606
112MP0005165_increased_susceptibility_to0.51978168
113MP0004185_abnormal_adipocyte_glucose0.51917107
114* MP0002925_abnormal_cardiovascular_devel0.50198454
115MP0006138_congestive_heart_failure0.49445610
116MP0003329_amyloid_beta_deposits0.46625059
117MP0001270_distended_abdomen0.46459646
118MP0003634_abnormal_glial_cell0.46332226

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)9.93271812
2Premature rupture of membranes (HP:0001788)9.13721677
3Ankle contracture (HP:0006466)5.62141389
4Aortic dissection (HP:0002647)5.41648677
5Soft skin (HP:0000977)5.34681669
6Peritonitis (HP:0002586)5.26968443
7Atrophic scars (HP:0001075)5.20286193
8Broad metatarsal (HP:0001783)5.07437824
9Shallow orbits (HP:0000586)5.04031595
10Fragile skin (HP:0001030)4.62277837
11Cervical subluxation (HP:0003308)4.54867307
12Abnormality of dentin (HP:0010299)4.47976238
13Bladder diverticulum (HP:0000015)4.40721575
14Vertebral compression fractures (HP:0002953)4.25504411
15Cerebral aneurysm (HP:0004944)4.12426684
16Aortic aneurysm (HP:0004942)4.07820065
17Dilatation of the ascending aorta (HP:0005111)4.07414608
18Genu recurvatum (HP:0002816)4.04921677
19Neonatal short-limb short stature (HP:0008921)3.93027613
20Follicular hyperkeratosis (HP:0007502)3.92922884
21Biconcave vertebral bodies (HP:0004586)3.80209212
22Blue sclerae (HP:0000592)3.75933584
23Wrist flexion contracture (HP:0001239)3.66906869
24Wormian bones (HP:0002645)3.65621183
25Type 1 muscle fiber predominance (HP:0003803)3.62755133
26Mitral valve prolapse (HP:0001634)3.60970072
27Hyperextensible skin (HP:0000974)3.22889421
28Abnormal delivery (HP:0001787)3.17200191
29Spinal rigidity (HP:0003306)3.15592703
30Bowel diverticulosis (HP:0005222)3.10898375
31Slender build (HP:0001533)3.05737037
32Infantile muscular hypotonia (HP:0008947)2.82990488
33Increased connective tissue (HP:0009025)2.80315015
34Abnormality of the acetabulum (HP:0003170)2.79884483
35Vascular tortuosity (HP:0004948)2.78912542
36Overgrowth (HP:0001548)2.72523128
37Spondylolisthesis (HP:0003302)2.69861903
38Hypoventilation (HP:0002791)2.57171481
39Breech presentation (HP:0001623)2.54638427
40Ectopia lentis (HP:0001083)2.53475477
41Wide anterior fontanel (HP:0000260)2.52925899
42Joint laxity (HP:0001388)2.52489529
43Arterial tortuosity (HP:0005116)2.48693605
44Osteolytic defects of the phalanges of the hand (HP:0009771)2.48279554
45Osteolytic defects of the hand bones (HP:0009699)2.48279554
46Elbow flexion contracture (HP:0002987)2.44169140
47Nonimmune hydrops fetalis (HP:0001790)2.43877511
48Deviation of the hallux (HP:0010051)2.43597858
49Aneurysm (HP:0002617)2.43566939
50Thin bony cortex (HP:0002753)2.41511026
51Mildly elevated creatine phosphokinase (HP:0008180)2.38180811
52Broad ribs (HP:0000885)2.35563657
53Increased variability in muscle fiber diameter (HP:0003557)2.35282212
54Abnormality of the peritoneum (HP:0002585)2.34606275
55Hallux valgus (HP:0001822)2.33393944
56Osteoarthritis (HP:0002758)2.33117425
57Bell-shaped thorax (HP:0001591)2.32115981
58Camptodactyly of toe (HP:0001836)2.30192166
59Striae distensae (HP:0001065)2.28162984
60Round ear (HP:0100830)2.27374233
61Tibial bowing (HP:0002982)2.27304116
62Syringomyelia (HP:0003396)2.27301622
63Spinal cord lesions (HP:0100561)2.27301622
64Absent frontal sinuses (HP:0002688)2.27015264
65Ulnar bowing (HP:0003031)2.25254202
66Upper limb amyotrophy (HP:0009129)2.21090870
67Distal upper limb amyotrophy (HP:0007149)2.21090870
68Delayed closure of the anterior fontanelle (HP:0001476)2.20931959
69Mitral regurgitation (HP:0001653)2.20656775
70Flat cornea (HP:0007720)2.19393524
71Femoral bowing (HP:0002980)2.17792486
72Coronal craniosynostosis (HP:0004440)2.16465328
73Hand muscle atrophy (HP:0009130)2.15276681
74Aortic valve stenosis (HP:0001650)2.10899410
75Venous abnormality (HP:0002624)2.07838332
76Abnormality of skeletal muscle fiber size (HP:0012084)2.03560302
77Aortic regurgitation (HP:0001659)2.02440650
78Venous insufficiency (HP:0005293)2.02416150
79Coxa vara (HP:0002812)2.01837549
80Morphological abnormality of the middle ear (HP:0008609)2.01644920
81Decreased skull ossification (HP:0004331)1.97868605
82Natal tooth (HP:0000695)1.97090767
83Delayed cranial suture closure (HP:0000270)1.95805206
84Abnormality of skull ossification (HP:0002703)1.95643679
85Broad long bones (HP:0005622)1.95420360
86Buphthalmos (HP:0000557)1.94219654
87Thin skin (HP:0000963)1.92178177
88Narrow nasal bridge (HP:0000446)1.91844137
89Alopecia of scalp (HP:0002293)1.90175879
90Inguinal hernia (HP:0000023)1.89999073
91Mild short stature (HP:0003502)1.89967725
92Renal duplication (HP:0000075)1.87792685
93Osteopenia (HP:0000938)1.87552262
94Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.87315597
95Persistence of primary teeth (HP:0006335)1.84460390
96Joint stiffness (HP:0001387)1.84361448
97Knee flexion contracture (HP:0006380)1.84254006
98Mesomelia (HP:0003027)1.83704472
99Platyspondyly (HP:0000926)1.82969095
100Tarsal synostosis (HP:0008368)1.81157854
101Generalized amyotrophy (HP:0003700)1.77450632
102Mitral stenosis (HP:0001718)1.77280065
103Joint contractures involving the joints of the feet (HP:0100492)1.77227991
104Flexion contracture of toe (HP:0005830)1.77227991
105Cupped ribs (HP:0000887)1.76850272
106Congenital glaucoma (HP:0001087)1.76442883
107Ovoid vertebral bodies (HP:0003300)1.74879104
108Turricephaly (HP:0000262)1.74230382
109J-shaped sella turcica (HP:0002680)1.74084293
110Disproportionate tall stature (HP:0001519)1.74001487
111Hypoplasia of the iris (HP:0007676)1.71150803
112Long toe (HP:0010511)1.70953814
113Abnormality of the anterior chamber (HP:0000593)1.70130100
114Protruding ear (HP:0000411)1.69090152
115Bowed forearm bones (HP:0003956)1.67130250

Predicted kinase interactions (KEA)

RankGene SetZ-score
1DDR26.22796312
2PDGFRA4.40801436
3TRIB33.91698395
4TTN3.52736218
5SIK13.04020325
6LATS23.01530116
7ERN12.99726554
8PKN22.89958221
9LATS12.68414242
10EPHA32.27965486
11RIPK12.04095349
12EPHB21.91214813
13TRPM71.90620219
14FER1.84195363
15PAK21.82941755
16AKT31.82630537
17BMX1.73308270
18PDGFRB1.54878254
19PAK31.53847909
20FRK1.51018347
21TGFBR21.47829328
22PTK21.46086419
23MAP3K61.36098837
24LRRK21.32687968
25PIM21.29929689
26FGFR11.25586008
27NEK91.24770141
28PAK41.23409128
29STK381.23263426
30STK31.21699898
31MAPK71.21355718
32MET1.19370879
33NTRK11.16842669
34PTK61.15821166
35PIK3CA1.13863398
36JAK11.13174093
37EEF2K1.12289122
38FLT31.09642265
39EPHB11.08938868
40SCYL21.08897598
41MOS1.08249906
42PTK2B1.03651343
43ROCK11.03014954
44TESK11.02702239
45DMPK1.00855859
46KIT0.97998376
47FGFR20.97480157
48PLK20.95587368
49LIMK10.92828483
50MTOR0.90937823
51RPS6KA40.90097399
52DYRK1B0.86128031
53FGFR40.83211039
54RPS6KA20.82929970
55RET0.82324902
56MAPKAPK30.78666613
57MYLK0.78651268
58WNK10.78562387
59ABL20.77738273
60ILK0.77575887
61ROCK20.77567651
62DAPK30.75679391
63MAP2K10.73095090
64FGFR30.72035242
65MAPKAPK50.69882677
66PRKCH0.69407626
67INSR0.67724567
68PRKD20.67278347
69PIK3CG0.66774959
70CAMK1D0.65539101
71MARK20.64363532
72MAP3K20.61100836
73KSR20.59198427
74MAP3K130.57605743
75PRKD10.57601283
76PRPF4B0.57232404
77MAP3K100.55932929
78CDK60.53913173
79MAP2K30.53697790
80CAMKK10.53122576
81TGFBR10.53074549
82MAPK120.52470764
83PRKG20.51547443
84MAP3K70.50178890
85CAMKK20.49931087
86ZAP700.49774440
87CLK10.48462043
88ADRBK10.47027676
89SRC0.45813813
90SMG10.45487111
91CDK120.43229765
92MARK10.43140781
93NME20.42842173
94CAMK2G0.42757208
95PAK10.42552789
96ERBB30.42011112
97PDPK10.38757728
98JAK30.37906068
99TAOK10.37688564
100PDK30.37299834
101PDK40.37299834
102CDC42BPA0.36426532
103RPS6KL10.35541614
104RPS6KC10.35541614
105ARAF0.35080971
106STK38L0.34888955
107HIPK20.34050718
108PRKCE0.32090184
109GSK3A0.31772860
110STK240.31459067
111PDK20.30742778
112CHUK0.29745754
113PAK60.29723974
114CDK150.29607974
115GRK50.29573682
116MAP3K30.29549945
117MAPK10.28830600
118PRKD30.28665361
119CAMK1G0.28352455
120CSF1R0.28282497
121ABL10.25787875
122ICK0.25301409
123EIF2AK20.25041061
124IGF1R0.24636611
125TYRO30.23998580
126LMTK20.23966972
127TBK10.23629629
128ERBB40.22853846
129CDK140.22718601

Predicted pathways (KEGG)

RankGene SetZ-score
1* ECM-receptor interaction_Homo sapiens_hsa045124.97167996
2* Focal adhesion_Homo sapiens_hsa045103.31157186
3Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005323.08756420
4Protein digestion and absorption_Homo sapiens_hsa049743.06371780
5Bladder cancer_Homo sapiens_hsa052192.61398688
6AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049332.46987242
7Proteoglycans in cancer_Homo sapiens_hsa052052.45831081
8Amoebiasis_Homo sapiens_hsa051462.40167822
9* Malaria_Homo sapiens_hsa051441.93352656
10Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.93220566
11Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.91511698
12Small cell lung cancer_Homo sapiens_hsa052221.86495012
13Dilated cardiomyopathy_Homo sapiens_hsa054141.86453978
14Melanoma_Homo sapiens_hsa052181.86372307
15Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.82810894
16* PI3K-Akt signaling pathway_Homo sapiens_hsa041511.82095594
17MicroRNAs in cancer_Homo sapiens_hsa052061.80958788
18Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.70746723
19TGF-beta signaling pathway_Homo sapiens_hsa043501.68624796
20Adherens junction_Homo sapiens_hsa045201.68272339
21Chronic myeloid leukemia_Homo sapiens_hsa052201.65682220
22p53 signaling pathway_Homo sapiens_hsa041151.60705730
23Glioma_Homo sapiens_hsa052141.53862310
24Hippo signaling pathway_Homo sapiens_hsa043901.40456148
25Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.33900431
26Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.33573406
27Glycosaminoglycan degradation_Homo sapiens_hsa005311.33456334
28Basal cell carcinoma_Homo sapiens_hsa052171.30890340
29Regulation of actin cytoskeleton_Homo sapiens_hsa048101.26258329
30Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.25867823
31Prostate cancer_Homo sapiens_hsa052151.23077339
32Pancreatic cancer_Homo sapiens_hsa052121.22307314
33Platelet activation_Homo sapiens_hsa046111.18057485
34Caffeine metabolism_Homo sapiens_hsa002321.10595091
35Leukocyte transendothelial migration_Homo sapiens_hsa046701.09911226
36Lysosome_Homo sapiens_hsa041421.08343923
37TNF signaling pathway_Homo sapiens_hsa046681.08207302
38Pathways in cancer_Homo sapiens_hsa052001.05653999
39Central carbon metabolism in cancer_Homo sapiens_hsa052301.04664238
40* Phagosome_Homo sapiens_hsa041451.03593729
41Hedgehog signaling pathway_Homo sapiens_hsa043401.02510252
42Rap1 signaling pathway_Homo sapiens_hsa040150.97391446
43Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.96053535
44Viral myocarditis_Homo sapiens_hsa054160.95837751
45Axon guidance_Homo sapiens_hsa043600.95361586
46Wnt signaling pathway_Homo sapiens_hsa043100.92705156
47Toxoplasmosis_Homo sapiens_hsa051450.91842732
48Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.91841643
49Shigellosis_Homo sapiens_hsa051310.89074104
50Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.86420653
51mTOR signaling pathway_Homo sapiens_hsa041500.84657521
52HIF-1 signaling pathway_Homo sapiens_hsa040660.84526413
53Vibrio cholerae infection_Homo sapiens_hsa051100.84508381
54HTLV-I infection_Homo sapiens_hsa051660.83491336
55Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.77631522
56Estrogen signaling pathway_Homo sapiens_hsa049150.76225785
57Thyroid cancer_Homo sapiens_hsa052160.75874046
58Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.75133795
59Gap junction_Homo sapiens_hsa045400.73219639
60Renal cell carcinoma_Homo sapiens_hsa052110.68952655
61Hepatitis B_Homo sapiens_hsa051610.68519183
62Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.67302971
63Tight junction_Homo sapiens_hsa045300.67105107
64Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.66288001
65GnRH signaling pathway_Homo sapiens_hsa049120.66247658
66Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.65663128
67Ras signaling pathway_Homo sapiens_hsa040140.64011601
68Colorectal cancer_Homo sapiens_hsa052100.62514808
69Apoptosis_Homo sapiens_hsa042100.61960980
70Pertussis_Homo sapiens_hsa051330.61960545
71Viral carcinogenesis_Homo sapiens_hsa052030.61897088
72Salmonella infection_Homo sapiens_hsa051320.61599760
73Longevity regulating pathway - mammal_Homo sapiens_hsa042110.61298166
74Melanogenesis_Homo sapiens_hsa049160.60736881
75Adipocytokine signaling pathway_Homo sapiens_hsa049200.60319667
76Aldosterone synthesis and secretion_Homo sapiens_hsa049250.60174707
77Prion diseases_Homo sapiens_hsa050200.59766187
78Renin-angiotensin system_Homo sapiens_hsa046140.59509963
79Phospholipase D signaling pathway_Homo sapiens_hsa040720.59135384
80Endocytosis_Homo sapiens_hsa041440.58755215
81FoxO signaling pathway_Homo sapiens_hsa040680.57689607
82Insulin resistance_Homo sapiens_hsa049310.57555790
83Dorso-ventral axis formation_Homo sapiens_hsa043200.57500712
84Choline metabolism in cancer_Homo sapiens_hsa052310.56349240
85Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.55814860
86Osteoclast differentiation_Homo sapiens_hsa043800.54651771
87Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.53843945
88Endometrial cancer_Homo sapiens_hsa052130.53616139
89N-Glycan biosynthesis_Homo sapiens_hsa005100.53555805
90Cocaine addiction_Homo sapiens_hsa050300.52743760
91Thyroid hormone synthesis_Homo sapiens_hsa049180.52567605
92Vascular smooth muscle contraction_Homo sapiens_hsa042700.52294392
93Neurotrophin signaling pathway_Homo sapiens_hsa047220.51437046
94Non-small cell lung cancer_Homo sapiens_hsa052230.50201257
95MAPK signaling pathway_Homo sapiens_hsa040100.50092649
96Rheumatoid arthritis_Homo sapiens_hsa053230.49576359
97Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.48581106
98Gastric acid secretion_Homo sapiens_hsa049710.47758647
99ErbB signaling pathway_Homo sapiens_hsa040120.47436674
100Renin secretion_Homo sapiens_hsa049240.47079712
101AMPK signaling pathway_Homo sapiens_hsa041520.45847784
102Calcium signaling pathway_Homo sapiens_hsa040200.44672061
103Other glycan degradation_Homo sapiens_hsa005110.44413721
104Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.44015781
105Lysine degradation_Homo sapiens_hsa003100.42663226
106Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.42577256
107Sphingolipid metabolism_Homo sapiens_hsa006000.42133101
108Thyroid hormone signaling pathway_Homo sapiens_hsa049190.42087895
109Tuberculosis_Homo sapiens_hsa051520.41451604
110Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.40727001
111Galactose metabolism_Homo sapiens_hsa000520.40436803
112VEGF signaling pathway_Homo sapiens_hsa043700.39917601
113Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.39834284
114Ovarian steroidogenesis_Homo sapiens_hsa049130.38833083
115Notch signaling pathway_Homo sapiens_hsa043300.38606418
116Oxytocin signaling pathway_Homo sapiens_hsa049210.38379108
117Leishmaniasis_Homo sapiens_hsa051400.38219049
118Complement and coagulation cascades_Homo sapiens_hsa046100.37967468
119cAMP signaling pathway_Homo sapiens_hsa040240.37589300
120cGMP-PKG signaling pathway_Homo sapiens_hsa040220.35549228
121Acute myeloid leukemia_Homo sapiens_hsa052210.34424143
122Prolactin signaling pathway_Homo sapiens_hsa049170.33402821

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