THBS1

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





Description: The protein encoded by this gene is a subunit of a disulfide-linked homotrimeric protein. This protein is an adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. This protein can bind to fibrinogen, fibronectin, laminin, type V collagen and integrins alpha-V/beta-1. This protein has been shown to play roles in platelet aggregation, angiogenesis, and tumorigenesis. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1chondrocyte proliferation (GO:0035988)7.99745299
2cell adhesion mediated by integrin (GO:0033627)7.16273236
3collagen fibril organization (GO:0030199)6.99306324
4wound healing, spreading of epidermal cells (GO:0035313)6.44053974
5sequestering of extracellular ligand from receptor (GO:0035581)6.42040237
6endodermal cell differentiation (GO:0035987)6.34578388
7wound healing, spreading of cells (GO:0044319)5.39332347
8skin morphogenesis (GO:0043589)5.34625826
9blood vessel maturation (GO:0001955)5.11419207
10regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)4.96578369
11protein heterotrimerization (GO:0070208)4.82839375
12bone trabecula formation (GO:0060346)4.74812064
13hemidesmosome assembly (GO:0031581)4.71790956
14cellular response to vitamin D (GO:0071305)4.64176564
15axon extension involved in axon guidance (GO:0048846)4.40699124
16neuron projection extension involved in neuron projection guidance (GO:1902284)4.40699124
17plasma membrane repair (GO:0001778)4.30541911
18apoptotic cell clearance (GO:0043277)4.29370809
19cellular response to vitamin (GO:0071295)4.27184696
20mesenchymal-epithelial cell signaling (GO:0060638)4.20673879
21negative regulation of smooth muscle cell migration (GO:0014912)4.20355927
22cell migration involved in heart development (GO:0060973)4.17124416
23collagen metabolic process (GO:0032963)4.16218509
24epithelial cell-cell adhesion (GO:0090136)4.13475193
25regulation of monocyte chemotaxis (GO:0090025)4.09880133
26substrate-dependent cell migration (GO:0006929)4.09875632
27collagen catabolic process (GO:0030574)4.08129719
28lymphangiogenesis (GO:0001946)4.04331419
29positive regulation of monocyte chemotaxis (GO:0090026)3.94215039
30type B pancreatic cell proliferation (GO:0044342)3.87054117
31multicellular organismal macromolecule metabolic process (GO:0044259)3.85681618
32dermatan sulfate biosynthetic process (GO:0030208)3.81073835
33craniofacial suture morphogenesis (GO:0097094)3.77317800
34stress fiber assembly (GO:0043149)3.76879798
35regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.76039183
36protein localization to endosome (GO:0036010)3.76020590
37extracellular matrix disassembly (GO:0022617)3.74762461
38peptidyl-proline hydroxylation (GO:0019511)3.70774606
39multicellular organismal catabolic process (GO:0044243)3.70559331
40cell migration involved in sprouting angiogenesis (GO:0002042)3.69481525
41protein localization to cell surface (GO:0034394)3.64927248
42multicellular organismal metabolic process (GO:0044236)3.61732551
43regulation of G0 to G1 transition (GO:0070316)3.59147887
44hypotonic response (GO:0006971)3.53514969
45extracellular matrix assembly (GO:0085029)3.53146777
46basement membrane organization (GO:0071711)3.51531114
47positive regulation of osteoblast proliferation (GO:0033690)3.49897272
48cellular response to interferon-alpha (GO:0035457)3.45883957
49dermatan sulfate metabolic process (GO:0030205)3.44365994
50response to fluid shear stress (GO:0034405)3.42331415
51epoxygenase P450 pathway (GO:0019373)3.40578477
52heparan sulfate proteoglycan biosynthetic process (GO:0015012)3.39954264
53endothelial cell morphogenesis (GO:0001886)3.39811726
54vascular endothelial growth factor signaling pathway (GO:0038084)3.36194016
55response to laminar fluid shear stress (GO:0034616)3.33961198
56positive regulation of collagen biosynthetic process (GO:0032967)3.33167173
57regulation of tight junction assembly (GO:2000810)3.32092230
58vascular endothelial growth factor receptor signaling pathway (GO:0048010)3.32058429
59negative regulation of nitric-oxide synthase activity (GO:0051001)3.31416004
60substrate adhesion-dependent cell spreading (GO:0034446)3.31276827
61positive regulation of epithelial to mesenchymal transition (GO:0010718)3.29319806
62cell-substrate junction assembly (GO:0007044)3.26743352
63retina vasculature morphogenesis in camera-type eye (GO:0061299)3.24092086
64positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr3.22059266
65extracellular negative regulation of signal transduction (GO:1900116)3.21247086
66extracellular regulation of signal transduction (GO:1900115)3.21247086
67regulation of integrin activation (GO:0033623)3.20855777
68hippo signaling (GO:0035329)3.20307633
69membrane raft organization (GO:0031579)3.18509017
70regulation of collagen metabolic process (GO:0010712)3.17329162
71adherens junction assembly (GO:0034333)3.17041989
72* positive regulation of blood vessel endothelial cell migration (GO:0043536)3.16710986
73positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)3.16263482
74cranial suture morphogenesis (GO:0060363)3.15640556
75positive regulation of collagen metabolic process (GO:0010714)3.14929017
76germ cell migration (GO:0008354)3.14246037
77* positive regulation of endothelial cell apoptotic process (GO:2000353)3.13069399
78positive regulation of extracellular matrix organization (GO:1903055)3.11593866
79regulation of branching involved in salivary gland morphogenesis (GO:0060693)3.08607806
80adhesion of symbiont to host cell (GO:0044650)3.08253920
81virion attachment to host cell (GO:0019062)3.08253920
82regulation of collagen biosynthetic process (GO:0032965)3.07328181
83protein hydroxylation (GO:0018126)3.06381130
84negative regulation of chondrocyte differentiation (GO:0032331)3.06316781
85smooth muscle tissue development (GO:0048745)3.06034894
86* sprouting angiogenesis (GO:0002040)3.04775266
87hyaluronan catabolic process (GO:0030214)3.04376656
88pericardium development (GO:0060039)3.04352144
89* extracellular matrix organization (GO:0030198)3.03637900
90negative regulation of axon extension involved in axon guidance (GO:0048843)3.03332819
91mesodermal cell differentiation (GO:0048333)3.02436133
92* extracellular structure organization (GO:0043062)3.02346123
93focal adhesion assembly (GO:0048041)3.02175649
94cell-substrate adherens junction assembly (GO:0007045)3.02175649
95blood vessel endothelial cell migration (GO:0043534)3.01382268
96negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)2.98855597
97cellular response to ATP (GO:0071318)2.98708599
98chondrocyte development (GO:0002063)2.97818841
99venous blood vessel morphogenesis (GO:0048845)2.97237515
100fibril organization (GO:0097435)2.96982929
101glomerular basement membrane development (GO:0032836)2.96302518
102metanephric mesenchyme development (GO:0072075)2.96143965
103* positive regulation of endothelial cell migration (GO:0010595)2.93363814
104* negative regulation of fibrinolysis (GO:0051918)2.92093267
105* platelet degranulation (GO:0002576)2.92073963
106actin filament depolymerization (GO:0030042)2.91663580
107dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.91361153
108omega-hydroxylase P450 pathway (GO:0097267)2.91213459
109regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition 2.91046138
110maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.90813589
111extracellular fibril organization (GO:0043206)2.89614644
112positive regulation of cartilage development (GO:0061036)2.89439079
113* cartilage development involved in endochondral bone morphogenesis (GO:0060351)2.87060616
114cellular response to amino acid stimulus (GO:0071230)2.84559380
115barbed-end actin filament capping (GO:0051016)2.84164292
116artery development (GO:0060840)2.82616088
117negative regulation of embryonic development (GO:0045992)2.82587060
118regulation of cartilage development (GO:0061035)2.82530684
119cellular response to nutrient (GO:0031670)2.81853919
120platelet aggregation (GO:0070527)2.81250366
121negative regulation of anoikis (GO:2000811)2.80255463
122kidney mesenchyme development (GO:0072074)2.79001017
123regulation of SMAD protein import into nucleus (GO:0060390)2.78440993
124cell-matrix adhesion (GO:0007160)2.78067922
125regulation of macrophage cytokine production (GO:0010935)2.77323350
126cell-substrate adhesion (GO:0031589)2.76974915
127heterotypic cell-cell adhesion (GO:0034113)2.75318126
128Golgi transport vesicle coating (GO:0048200)2.74930676
129COPI coating of Golgi vesicle (GO:0048205)2.74930676
130endothelium development (GO:0003158)2.73291404
131regulation of chondrocyte differentiation (GO:0032330)2.71012257
132regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)2.67509702
133platelet-derived growth factor receptor signaling pathway (GO:0048008)2.65848631
134regulation of chemokine-mediated signaling pathway (GO:0070099)2.65740049
135negative regulation of cartilage development (GO:0061037)2.64907135
136negative regulation of BMP signaling pathway (GO:0030514)2.63349075
137* positive regulation of epithelial cell migration (GO:0010634)2.63267662
138regulation of smooth muscle cell migration (GO:0014910)2.62167242
139endocytic recycling (GO:0032456)2.59417478
140negative regulation of stem cell proliferation (GO:2000647)2.58311625
141heparan sulfate proteoglycan metabolic process (GO:0030201)2.57677754

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human7.29994552
2TP63_17297297_ChIP-ChIP_HaCaT_Human5.57384081
3RARG_19884340_ChIP-ChIP_MEFs_Mouse5.16063691
4PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse3.51092333
5NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse3.41308358
6* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse3.18556588
7EGR1_19374776_ChIP-ChIP_THP-1_Human3.06804350
8CLOCK_20551151_ChIP-Seq_293T_Human2.91706249
9TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.74858087
10* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.73652750
11CJUN_26792858_Chip-Seq_BT549_Human2.61426450
12CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.52705438
13WT1_19549856_ChIP-ChIP_CCG9911_Human2.47786566
14SMAD_19615063_ChIP-ChIP_OVARY_Human2.38669868
15BRD4_25478319_ChIP-Seq_HGPS_Human2.36535314
16* SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.33041160
17* CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse2.25664636
18HIF1A_21447827_ChIP-Seq_MCF-7_Human2.10078251
19* SMAD3_18955504_ChIP-ChIP_HaCaT_Human2.09907806
20* SMAD2_18955504_ChIP-ChIP_HaCaT_Human2.09907806
21ELK3_25401928_ChIP-Seq_HUVEC_Human2.06632619
22NFE2L2_20460467_ChIP-Seq_MEFs_Mouse2.06087968
23NRF2_20460467_ChIP-Seq_MEFs_Mouse2.06087968
24FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.04472121
25TP53_16413492_ChIP-PET_HCT116_Human2.03615338
26ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.02880029
27* WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse2.00772864
28EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.00385068
29ESR1_15608294_ChIP-ChIP_MCF-7_Human1.94378543
30PPAR_26484153_Chip-Seq_NCI-H1993_Human1.92864344
31EP300_21415370_ChIP-Seq_HL-1_Mouse1.90910600
32* RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.89495934
33CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.76008511
34NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.73441339
35JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.73372720
36SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.67108511
37* P300_27058665_Chip-Seq_ZR-75-30cells_Human1.65322531
38JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.63890832
39TP53_22127205_ChIP-Seq_IMR90_Human1.60622853
40* SMC1_22415368_ChIP-Seq_MEFs_Mouse1.60613414
41ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.60161590
42BP1_19119308_ChIP-ChIP_Hs578T_Human1.59167012
43TP53_18474530_ChIP-ChIP_U2OS_Human1.58929348
44* ATF3_27146783_Chip-Seq_COLON_Human1.53038520
45HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.50727163
46* TP53_23651856_ChIP-Seq_MEFs_Mouse1.49431691
47TP53_20018659_ChIP-ChIP_R1E_Mouse1.44754772
48UBF1/2_26484160_Chip-Seq_HMECs_Human1.44474923
49ESR1_21235772_ChIP-Seq_MCF-7_Human1.44071058
50SALL4_18804426_ChIP-ChIP_XEN_Mouse1.40963610
51* SOX2_20726797_ChIP-Seq_SW620_Human1.40716472
52* FOXO3_23340844_ChIP-Seq_DLD1_Human1.40617820
53* ESR2_21235772_ChIP-Seq_MCF-7_Human1.38959395
54KDM2B_26808549_Chip-Seq_SUP-B15_Human1.30591921
55KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.27346135
56SOX9_24532713_ChIP-Seq_HFSC_Mouse1.25368822
57CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.19684110
58* CDX2_19796622_ChIP-Seq_MESCs_Mouse1.18480524
59UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.17889015
60* SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.17725484
61MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.17161735
62EED_16625203_ChIP-ChIP_MESCs_Mouse1.16450572
63* ELK1_22589737_ChIP-Seq_MCF10A_Human1.14850854
64RACK7_27058665_Chip-Seq_MCF-7_Human1.14781048
65AHR_22903824_ChIP-Seq_MCF-7_Human1.14257252
66Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.13846360
67TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.13227091
68* SMC3_22415368_ChIP-Seq_MEFs_Mouse1.12873147
69GATA2_21666600_ChIP-Seq_HMVEC_Human1.12737966
70SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.12535617
71TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.11355486
72P63_26484246_Chip-Seq_KERATINOCYTES_Human1.08530140
73THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.07591318
74* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.06781854
75* PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.06574358
76TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.06459626
77* MYB_21317192_ChIP-Seq_ERMYB_Mouse1.05776815
78ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.05428561
79KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.03630669
80NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.03040242
81SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.02370954
82NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.02253243
83NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.02162337
84TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.01718468
85ZFP281_18757296_ChIP-ChIP_E14_Mouse1.01307844
86KLF5_25053715_ChIP-Seq_YYC3_Human1.00024026
87EZH2_18974828_ChIP-Seq_MESCs_Mouse0.99884020
88RNF2_18974828_ChIP-Seq_MESCs_Mouse0.99884020
89SA1_22415368_ChIP-Seq_MEFs_Mouse0.99790198
90* TBX20_22080862_ChIP-Seq_HEART_Mouse0.99251670
91* TBX20_22328084_ChIP-Seq_HEART_Mouse0.99251670
92BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.97270010
93KDM2B_26808549_Chip-Seq_DND41_Human0.96816855
94TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.95983645
95KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.95878239
96ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.95645744
97HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.95635000
98SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.95074824
99* ZFP281_27345836_Chip-Seq_ESCs_Mouse0.95019017
100CTNNB1_20460455_ChIP-Seq_HCT116_Human0.94405500
101* FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.93845238
102* NFI_21473784_ChIP-Seq_ESCs_Mouse0.93542960
103STAT6_21828071_ChIP-Seq_BEAS2B_Human0.92956223
104NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse0.92663280
105* PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.91951458
106RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.91918732
107NFIB_24661679_ChIP-Seq_LUNG_Mouse0.91681887
108BRD4_27068464_Chip-Seq_AML-cells_Mouse0.90629439
109EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.90358628
110SUZ12_16625203_ChIP-ChIP_MESCs_Mouse0.88308285
111DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.88074447
112NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.87950585
113* TP63_23658742_ChIP-Seq_EP156T_Human0.87779952
114VDR_24787735_ChIP-Seq_THP-1_Human0.86968108
115KDM2B_26808549_Chip-Seq_K562_Human0.86860941
116RBPJ_22232070_ChIP-Seq_NCS_Mouse0.86050833
117ARNT_22903824_ChIP-Seq_MCF-7_Human0.85869436
118AR_21909140_ChIP-Seq_LNCAP_Human0.84934968
119LXR_22292898_ChIP-Seq_THP-1_Human0.84321271
120PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.83526885
121SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.81784487

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen8.50643628
2MP0005275_abnormal_skin_tensile5.31424532
3MP0003705_abnormal_hypodermis_morpholog4.39737996
4MP0005503_abnormal_tendon_morphology4.29821785
5MP0003279_aneurysm4.28596302
6MP0005623_abnormal_meninges_morphology3.68165156
7MP0003566_abnormal_cell_adhesion3.18619879
8MP0001958_emphysema3.08081411
9MP0009384_cardiac_valve_regurgitation2.62957578
10* MP0010352_gastrointestinal_tract_polyps2.50482973
11MP0003091_abnormal_cell_migration2.43831596
12MP0004272_abnormal_basement_membrane2.42221839
13MP0006054_spinal_hemorrhage2.30012071
14* MP0005023_abnormal_wound_healing2.28877706
15MP0005257_abnormal_intraocular_pressure2.24444331
16MP0005508_abnormal_skeleton_morphology2.03639166
17MP0002060_abnormal_skin_morphology2.00357723
18MP0001879_abnormal_lymphatic_vessel1.90052996
19* MP0002295_abnormal_pulmonary_circulatio1.83622457
20MP0003828_pulmonary_edema1.69556469
21MP0001542_abnormal_bone_strength1.68480336
22MP0002877_abnormal_melanocyte_morpholog1.65210749
23MP0003385_abnormal_body_wall1.65199788
24* MP0001243_abnormal_dermal_layer1.55301556
25MP0003045_fibrosis1.54486161
26MP0000733_abnormal_muscle_development1.53887883
27MP0009250_abnormal_appendicular_skeleto1.53772666
28MP0003283_abnormal_digestive_organ1.52002974
29MP0001299_abnormal_eye_distance/1.50513342
30MP0010030_abnormal_orbit_morphology1.50500394
31MP0009053_abnormal_anal_canal1.49214407
32MP0005390_skeleton_phenotype1.47451328
33MP0000013_abnormal_adipose_tissue1.47433125
34MP0002896_abnormal_bone_mineralization1.41378590
35MP0008004_abnormal_stomach_pH1.37679430
36MP0002282_abnormal_trachea_morphology1.33394767
37MP0003303_peritoneal_inflammation1.31965256
38* MP0000767_abnormal_smooth_muscle1.30106455
39MP0002168_other_aberrant_phenotype1.27701275
40MP0001533_abnormal_skeleton_physiology1.23534133
41MP0002933_joint_inflammation1.21055383
42MP0003191_abnormal_cellular_cholesterol1.20497076
43MP0004134_abnormal_chest_morphology1.20335718
44MP0001849_ear_inflammation1.19945808
45MP0003300_gastrointestinal_ulcer1.18809249
46MP0003941_abnormal_skin_development1.16519211
47MP0004233_abnormal_muscle_weight1.10533231
48MP0000762_abnormal_tongue_morphology1.10007398
49MP0000163_abnormal_cartilage_morphology1.08712842
50MP0000751_myopathy1.08583312
51MP0002998_abnormal_bone_remodeling1.08056845
52MP0002108_abnormal_muscle_morphology1.07958637
53MP0002113_abnormal_skeleton_development1.07658917
54MP0002115_abnormal_skeleton_extremities1.06997960
55MP0000750_abnormal_muscle_regeneration1.06944242
56MP0005076_abnormal_cell_differentiation1.01657332
57MP0004858_abnormal_nervous_system1.01594688
58MP0003755_abnormal_palate_morphology0.98206219
59MP0005164_abnormal_response_to0.95970555
60MP0002932_abnormal_joint_morphology0.94829850
61MP0003942_abnormal_urinary_system0.94220247
62MP0000428_abnormal_craniofacial_morphol0.92894437
63MP0003115_abnormal_respiratory_system0.91677389
64MP0002089_abnormal_postnatal_growth/wei0.91293539
65* MP0002128_abnormal_blood_circulation0.90529551
66MP0010368_abnormal_lymphatic_system0.90525467
67MP0003795_abnormal_bone_structure0.89818683
68* MP0001614_abnormal_blood_vessel0.89055977
69MP0005409_darkened_coat_color0.87395061
70MP0000858_altered_metastatic_potential0.87317497
71MP0005165_increased_susceptibility_to0.86629711
72MP0010386_abnormal_urinary_bladder0.84359606
73MP0000003_abnormal_adipose_tissue0.81901759
74MP0003436_decreased_susceptibility_to0.79966906
75MP0002332_abnormal_exercise_endurance0.79201019
76MP0000432_abnormal_head_morphology0.78775836
77MP0001915_intracranial_hemorrhage0.77119267
78MP0005595_abnormal_vascular_smooth0.77016075
79MP0000534_abnormal_ureter_morphology0.76250557
80MP0002925_abnormal_cardiovascular_devel0.75819502
81MP0000749_muscle_degeneration0.75508400
82* MP0003448_altered_tumor_morphology0.74252916
83MP0004808_abnormal_hematopoietic_stem0.71185892
84MP0005197_abnormal_uvea_morphology0.70961525
85MP0000343_altered_response_to0.70653923
86MP0002177_abnormal_outer_ear0.70628590
87MP0003935_abnormal_craniofacial_develop0.68998903
88MP0002233_abnormal_nose_morphology0.66282876
89* MP0001175_abnormal_lung_morphology0.65909737
90MP0005388_respiratory_system_phenotype0.65427854
91MP0002133_abnormal_respiratory_system0.65427854
92MP0001177_atelectasis0.65198386
93MP0002109_abnormal_limb_morphology0.64481576
94* MP0005193_abnormal_anterior_eye0.62741803
95MP0002116_abnormal_craniofacial_bone0.61925790
96MP0006138_congestive_heart_failure0.60911918
97MP0000538_abnormal_urinary_bladder0.60682545
98MP0005621_abnormal_cell_physiology0.58568127
99MP0003937_abnormal_limbs/digits/tail_de0.58413162
100MP0000462_abnormal_digestive_system0.58240566
101MP0003453_abnormal_keratinocyte_physiol0.58173323
102MP0000249_abnormal_blood_vessel0.56487298
103* MP0002111_abnormal_tail_morphology0.55845335
104MP0003950_abnormal_plasma_membrane0.55584793
105MP0004087_abnormal_muscle_fiber0.55196483
106MP0000759_abnormal_skeletal_muscle0.54675408
107MP0004883_abnormal_blood_vessel0.54409104
108MP0000049_abnormal_middle_ear0.53912749
109MP0004084_abnormal_cardiac_muscle0.53522464
110MP0004510_myositis0.53447370
111MP0010771_integument_phenotype0.53146220
112MP0009780_abnormal_chondrocyte_physiolo0.52650692
113MP0009840_abnormal_foam_cell0.51651024
114MP0000465_gastrointestinal_hemorrhage0.51208322
115MP0005367_renal/urinary_system_phenotyp0.51002183
116MP0000516_abnormal_urinary_system0.51002183
117MP0009278_abnormal_bone_marrow0.50926888
118MP0005375_adipose_tissue_phenotype0.49529755
119MP0001727_abnormal_embryo_implantation0.49273382

Predicted human phenotypes

RankGene SetZ-score
1Premature rupture of membranes (HP:0001788)9.22711323
2Protrusio acetabuli (HP:0003179)8.29256564
3Peritonitis (HP:0002586)6.54002401
4Aortic dissection (HP:0002647)5.42169793
5Atrophic scars (HP:0001075)5.23259433
6Shallow orbits (HP:0000586)5.06086460
7Soft skin (HP:0000977)4.45966469
8Fragile skin (HP:0001030)4.37214656
9Dilatation of the ascending aorta (HP:0005111)4.33941870
10Abnormality of dentin (HP:0010299)4.25662446
11Genu recurvatum (HP:0002816)4.25608251
12Cervical subluxation (HP:0003308)4.19616148
13Bladder diverticulum (HP:0000015)4.03346227
14Aortic aneurysm (HP:0004942)3.89867118
15Cerebral aneurysm (HP:0004944)3.82622773
16Mitral valve prolapse (HP:0001634)3.61224919
17Ankle contracture (HP:0006466)3.57051147
18Blue sclerae (HP:0000592)3.48027137
19Neonatal short-limb short stature (HP:0008921)3.47695326
20Wormian bones (HP:0002645)3.41245598
21Vertebral compression fractures (HP:0002953)3.41224022
22Biconcave vertebral bodies (HP:0004586)3.36749787
23Broad metatarsal (HP:0001783)3.34410068
24Infantile muscular hypotonia (HP:0008947)3.32791728
25Wrist flexion contracture (HP:0001239)3.30349506
26Bowel diverticulosis (HP:0005222)3.27977966
27Abnormality of the peritoneum (HP:0002585)2.97801534
28Abnormal delivery (HP:0001787)2.97068734
29Ectopia lentis (HP:0001083)2.86471427
30Short nail (HP:0001799)2.80628958
31Camptodactyly of toe (HP:0001836)2.77129526
32Hyperextensible skin (HP:0000974)2.75501282
33Vascular tortuosity (HP:0004948)2.72241523
34Abnormality of the acetabulum (HP:0003170)2.71280197
35Spinal rigidity (HP:0003306)2.69403897
36Slender build (HP:0001533)2.57775376
37Aortic valve stenosis (HP:0001650)2.55489439
38Radial bowing (HP:0002986)2.53193325
39Deviation of the hallux (HP:0010051)2.50638750
40Distal upper limb amyotrophy (HP:0007149)2.50294667
41Upper limb amyotrophy (HP:0009129)2.50294667
42Mesomelia (HP:0003027)2.50227120
43Tibial bowing (HP:0002982)2.49562807
44Hallux valgus (HP:0001822)2.49469708
45Increased connective tissue (HP:0009025)2.46718564
46Thin bony cortex (HP:0002753)2.45640543
47Elbow flexion contracture (HP:0002987)2.41181552
48Ulnar bowing (HP:0003031)2.39131692
49Increased density of long bones (HP:0006392)2.38860105
50Osteolytic defects of the hand bones (HP:0009699)2.36623165
51Osteolytic defects of the phalanges of the hand (HP:0009771)2.36623165
52Abnormality of the calcaneus (HP:0008364)2.34570627
53Aneurysm (HP:0002617)2.33225181
54Overgrowth (HP:0001548)2.32130275
55Mildly elevated creatine phosphokinase (HP:0008180)2.30626398
56Broad face (HP:0000283)2.30605112
57Mitral stenosis (HP:0001718)2.29121735
58Disproportionate tall stature (HP:0001519)2.25127915
59Bowing of the arm (HP:0006488)2.24350134
60Bowed forearm bones (HP:0003956)2.24350134
61Arterial tortuosity (HP:0005116)2.23043705
62Absent frontal sinuses (HP:0002688)2.22959832
63Spondylolisthesis (HP:0003302)2.21925947
64Round ear (HP:0100830)2.21102685
65Buphthalmos (HP:0000557)2.20784258
66Congenital glaucoma (HP:0001087)2.20318283
67Joint contractures involving the joints of the feet (HP:0100492)2.19535969
68Flexion contracture of toe (HP:0005830)2.19535969
69Spinal cord lesions (HP:0100561)2.17001738
70Syringomyelia (HP:0003396)2.17001738
71Wide anterior fontanel (HP:0000260)2.14787523
72Cardiovascular calcification (HP:0011915)2.14670118
73Natal tooth (HP:0000695)2.14657699
74Spinal cord compression (HP:0002176)2.14589796
75Osteoarthritis (HP:0002758)2.13644484
76Mitral regurgitation (HP:0001653)2.12952772
77Reduced subcutaneous adipose tissue (HP:0003758)2.12772518
78Joint laxity (HP:0001388)2.12246544
79Type 1 muscle fiber predominance (HP:0003803)2.09884026
80Broad ribs (HP:0000885)2.09499425
81Femoral bowing (HP:0002980)2.07642475
82Abnormality of skeletal muscle fiber size (HP:0012084)2.07494124
83Coxa vara (HP:0002812)2.06626859
84Breech presentation (HP:0001623)2.05421139
85Nonimmune hydrops fetalis (HP:0001790)2.04915420
86Difficulty climbing stairs (HP:0003551)2.02972139
87Coronal craniosynostosis (HP:0004440)2.02487609
88Follicular hyperkeratosis (HP:0007502)2.02281266
89Joint stiffness (HP:0001387)2.00809081
90Increased mean platelet volume (HP:0011877)2.00591965
91Broad long bones (HP:0005622)1.96264975
92Venous abnormality (HP:0002624)1.93934671
93Distal lower limb amyotrophy (HP:0008944)1.92334744
94Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.89660597
95Hypoplasia of the iris (HP:0007676)1.89581193
96Knee flexion contracture (HP:0006380)1.89320930
97Hand muscle atrophy (HP:0009130)1.89161254
98Bell-shaped thorax (HP:0001591)1.87756379
99Scapular winging (HP:0003691)1.87700416
100Ovoid vertebral bodies (HP:0003300)1.87339782
101Delayed closure of the anterior fontanelle (HP:0001476)1.85637997
102Entropion (HP:0000621)1.85037571
103Fused cervical vertebrae (HP:0002949)1.84551160
104Aortic regurgitation (HP:0001659)1.84403250
105Venous insufficiency (HP:0005293)1.84304387
106Abnormal ossification of hand bones (HP:0005921)1.84035786
107Platyspondyly (HP:0000926)1.83972613
108Abnormality of carpal bone ossification (HP:0006257)1.83886023
109Hypoventilation (HP:0002791)1.83787279
110Abnormality of the anterior chamber (HP:0000593)1.82161038
111Tarsal synostosis (HP:0008368)1.79701626
112Increased variability in muscle fiber diameter (HP:0003557)1.79547137
113Inguinal hernia (HP:0000023)1.77715472
114Long toe (HP:0010511)1.77142341
115Abnormal platelet volume (HP:0011876)1.76225609
116Beaking of vertebral bodies (HP:0004568)1.75902071
117Striae distensae (HP:0001065)1.74800633
118Decreased skull ossification (HP:0004331)1.74021927
119Mild short stature (HP:0003502)1.71943110
120Protruding ear (HP:0000411)1.71267904
121Chondrocalcinosis (HP:0000934)1.71162554
122Thoracolumbar scoliosis (HP:0002944)1.70143622
123Generalized amyotrophy (HP:0003700)1.69347705
124Osteopenia (HP:0000938)1.66984972
125Abnormality of skull ossification (HP:0002703)1.66337842
126Delayed cranial suture closure (HP:0000270)1.65877276
127Arachnodactyly (HP:0001166)1.63675948

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TTN4.95782353
2DDR24.32989639
3TIE14.24130506
4TRIB33.95202885
5PDGFRA3.04613531
6LATS23.02952262
7ERN13.01524204
8PKN22.94309970
9LATS12.94243187
10PAK22.58207372
11PAK32.43796645
12RIPK12.25000709
13PTK22.22691242
14TRPM72.16945716
15EPHA22.10808649
16BMX2.05284417
17TESK11.96885010
18PIM21.84920709
19EPHB21.76553358
20LRRK21.68143660
21AKT31.62940951
22PIK3CG1.59228201
23MOS1.57020900
24LIMK11.52663883
25FER1.49144286
26STK381.42180941
27PTK61.39303284
28IRAK31.39142749
29PTK2B1.35184436
30STK31.34192883
31PIK3CA1.32890021
32RPS6KA41.31778397
33EPHA31.30858524
34DMPK1.28766258
35PAK41.26997875
36SIK11.23263435
37MST1R1.15220219
38MAP3K31.13011602
39FGFR11.10599688
40PDGFRB1.08726177
41EPHB11.07414293
42MTOR1.01729353
43STK101.01249036
44MET0.99248261
45EEF2K0.97516119
46NTRK10.96848170
47MYLK0.96674352
48MAP3K60.95899764
49MAP3K120.95579788
50GRK70.94331975
51ICK0.92012049
52TGFBR10.90898496
53ABL20.87522559
54INSR0.86356798
55ROCK10.85951275
56TAOK10.84041786
57NEK90.83860388
58TEC0.83428478
59ILK0.81084306
60STK38L0.80929768
61ERBB30.78693727
62MAP2K10.73782281
63MAP3K100.73078732
64ERBB40.71131934
65GSK3A0.70667164
66MAP2K30.69402804
67PLK20.69077774
68PRKG20.67140569
69MELK0.67114351
70RET0.66800847
71SCYL20.66655564
72CDK80.65271949
73DAPK30.64455904
74PAK10.64241274
75CDK120.63565417
76PRKD20.63167151
77PRPF4B0.62797209
78PRKD10.62271506
79TGFBR20.62235252
80MAPK70.60974990
81ROCK20.59645354
82PRKCH0.59091339
83KIT0.57709701
84MAP3K80.55296881
85CAMKK10.55046900
86FLT30.54660250
87TESK20.54295832
88ZAP700.54045605
89SMG10.53117530
90CDK60.52849484
91ARAF0.51791819
92FRK0.51641937
93PAK60.50350432
94TBK10.49475630
95KDR0.49374099
96HCK0.49155872
97CDC42BPA0.48452525
98SRC0.47772025
99LMTK20.47676110
100CSK0.46112180
101JAK10.45346284
102MAP3K140.44636132
103MAPKAPK30.43777368
104WNK10.43728224
105ABL10.42089519
106MAPKAPK50.41949593
107ALK0.41687880
108TAOK20.40310122
109CDK140.40202822
110CDK150.40061306
111NME20.37369370
112DYRK1B0.36396601
113MAPKAPK20.36301298
114EGFR0.36108892
115FYN0.36107507
116CDK180.35055992
117IKBKB0.34428360
118FGFR40.33307185
119CDK11A0.33089615
120KSR20.31950966
121CAMK2G0.30660640
122JAK30.29221273
123MAP3K130.28813957
124RPS6KA20.28307500
125PRKCE0.27006252
126ADRBK10.24899176
127CLK10.24814825
128IGF1R0.24409265
129MAPK10.24085723

Predicted pathways (KEGG)

RankGene SetZ-score
1* ECM-receptor interaction_Homo sapiens_hsa045123.89519018
2* Focal adhesion_Homo sapiens_hsa045103.08689174
3Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.95288573
4Amoebiasis_Homo sapiens_hsa051462.56693982
5Bacterial invasion of epithelial cells_Homo sapiens_hsa051002.53270370
6* Proteoglycans in cancer_Homo sapiens_hsa052052.42256054
7AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049332.40280204
8Shigellosis_Homo sapiens_hsa051312.15197841
9Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.05895803
10Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.05856450
11Adherens junction_Homo sapiens_hsa045202.04617013
12* Malaria_Homo sapiens_hsa051442.02513591
13Small cell lung cancer_Homo sapiens_hsa052221.99111073
14Dilated cardiomyopathy_Homo sapiens_hsa054141.93535587
15Protein digestion and absorption_Homo sapiens_hsa049741.89810339
16* Bladder cancer_Homo sapiens_hsa052191.84235110
17* MicroRNAs in cancer_Homo sapiens_hsa052061.82609175
18Hippo signaling pathway_Homo sapiens_hsa043901.81206688
19Regulation of actin cytoskeleton_Homo sapiens_hsa048101.80617434
20Leukocyte transendothelial migration_Homo sapiens_hsa046701.72217785
21Chronic myeloid leukemia_Homo sapiens_hsa052201.71972157
22Leishmaniasis_Homo sapiens_hsa051401.69739724
23Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.61468593
24* TGF-beta signaling pathway_Homo sapiens_hsa043501.60234736
25* p53 signaling pathway_Homo sapiens_hsa041151.53631211
26Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.50444682
27* PI3K-Akt signaling pathway_Homo sapiens_hsa041511.42592221
28TNF signaling pathway_Homo sapiens_hsa046681.39239246
29Salmonella infection_Homo sapiens_hsa051321.38721010
30Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.32139313
31* Phagosome_Homo sapiens_hsa041451.30616879
32Melanoma_Homo sapiens_hsa052181.26494630
33Platelet activation_Homo sapiens_hsa046111.25385457
34Pancreatic cancer_Homo sapiens_hsa052121.20225878
35Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.20058145
36Toxoplasmosis_Homo sapiens_hsa051451.14929558
37Viral myocarditis_Homo sapiens_hsa054161.05140352
38Glioma_Homo sapiens_hsa052141.02293744
39Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.02196145
40* Rap1 signaling pathway_Homo sapiens_hsa040151.00541581
41Pertussis_Homo sapiens_hsa051331.00265531
42Tight junction_Homo sapiens_hsa045300.96068539
43HIF-1 signaling pathway_Homo sapiens_hsa040660.95240546
44Basal cell carcinoma_Homo sapiens_hsa052170.94975026
45Apoptosis_Homo sapiens_hsa042100.94660451
46Pathways in cancer_Homo sapiens_hsa052000.94326353
47Osteoclast differentiation_Homo sapiens_hsa043800.90494487
48HTLV-I infection_Homo sapiens_hsa051660.90223956
49Prostate cancer_Homo sapiens_hsa052150.87641142
50Axon guidance_Homo sapiens_hsa043600.86495607
51Renal cell carcinoma_Homo sapiens_hsa052110.85314126
52VEGF signaling pathway_Homo sapiens_hsa043700.84013297
53Hepatitis B_Homo sapiens_hsa051610.83614387
54Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.83321534
55Tuberculosis_Homo sapiens_hsa051520.82295644
56Complement and coagulation cascades_Homo sapiens_hsa046100.82290166
57Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.82062547
58Neurotrophin signaling pathway_Homo sapiens_hsa047220.81633696
59Rheumatoid arthritis_Homo sapiens_hsa053230.81244379
60Thyroid cancer_Homo sapiens_hsa052160.79194124
61Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.77378588
62Glycosaminoglycan degradation_Homo sapiens_hsa005310.72934495
63Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.72779140
64Viral carcinogenesis_Homo sapiens_hsa052030.72377395
65Sulfur metabolism_Homo sapiens_hsa009200.72131963
66Vibrio cholerae infection_Homo sapiens_hsa051100.71028174
67Thyroid hormone signaling pathway_Homo sapiens_hsa049190.69535357
68Ovarian steroidogenesis_Homo sapiens_hsa049130.69492756
69Colorectal cancer_Homo sapiens_hsa052100.68590312
70Endocytosis_Homo sapiens_hsa041440.67756307
71Lysosome_Homo sapiens_hsa041420.67610393
72African trypanosomiasis_Homo sapiens_hsa051430.66050352
73cGMP-PKG signaling pathway_Homo sapiens_hsa040220.65834618
74Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.65688485
75Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.65340917
76Hedgehog signaling pathway_Homo sapiens_hsa043400.63131777
77Hematopoietic cell lineage_Homo sapiens_hsa046400.62104814
78Legionellosis_Homo sapiens_hsa051340.60742395
79Wnt signaling pathway_Homo sapiens_hsa043100.60740844
80Dorso-ventral axis formation_Homo sapiens_hsa043200.59930480
81Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.58544749
82Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.58310837
83Central carbon metabolism in cancer_Homo sapiens_hsa052300.57466451
84FoxO signaling pathway_Homo sapiens_hsa040680.56923888
85Gap junction_Homo sapiens_hsa045400.56642866
86MAPK signaling pathway_Homo sapiens_hsa040100.56238005
87Vascular smooth muscle contraction_Homo sapiens_hsa042700.55662474
88GnRH signaling pathway_Homo sapiens_hsa049120.54399061
89Estrogen signaling pathway_Homo sapiens_hsa049150.54288271
90ErbB signaling pathway_Homo sapiens_hsa040120.53866254
91Sphingolipid metabolism_Homo sapiens_hsa006000.53356277
92mTOR signaling pathway_Homo sapiens_hsa041500.53062728
93Melanogenesis_Homo sapiens_hsa049160.52210759
94Ras signaling pathway_Homo sapiens_hsa040140.51476688
95Prolactin signaling pathway_Homo sapiens_hsa049170.50929799
96NF-kappa B signaling pathway_Homo sapiens_hsa040640.49983279
97Phospholipase D signaling pathway_Homo sapiens_hsa040720.49820810
98Hepatitis C_Homo sapiens_hsa051600.47895255
99Toll-like receptor signaling pathway_Homo sapiens_hsa046200.46104518
100Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.45863337
101N-Glycan biosynthesis_Homo sapiens_hsa005100.45213098
102Inositol phosphate metabolism_Homo sapiens_hsa005620.43982309
103Acute myeloid leukemia_Homo sapiens_hsa052210.43243787
104Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.42529967
105Other glycan degradation_Homo sapiens_hsa005110.41519121
106Non-small cell lung cancer_Homo sapiens_hsa052230.40890680
107Galactose metabolism_Homo sapiens_hsa000520.40621385
108Endometrial cancer_Homo sapiens_hsa052130.39881199
109Insulin resistance_Homo sapiens_hsa049310.39593981
110Staphylococcus aureus infection_Homo sapiens_hsa051500.39425551
111Prion diseases_Homo sapiens_hsa050200.39161559
112Jak-STAT signaling pathway_Homo sapiens_hsa046300.37262618
113Sphingolipid signaling pathway_Homo sapiens_hsa040710.34064830
114Notch signaling pathway_Homo sapiens_hsa043300.33661923
115Thyroid hormone synthesis_Homo sapiens_hsa049180.32510637

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