SERPINE1

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 serine proteinase inhibitor (serpin) superfamily. This member is the principal inhibitor of tissue plasminogen activator (tPA) and urokinase (uPA), and hence is an inhibitor of fibrinolysis. Defects in this gene are the cause of plasminogen activator inhibitor-1 deficiency (PAI-1 deficiency), and high concentrations of the gene product are associated with thrombophilia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1chondrocyte proliferation (GO:0035988)8.49634551
2cell adhesion mediated by integrin (GO:0033627)7.22804314
3wound healing, spreading of epidermal cells (GO:0035313)7.09977753
4positive regulation of endothelial cell apoptotic process (GO:2000353)6.50204610
5negative regulation of fatty acid transport (GO:2000192)6.43652066
6endodermal cell differentiation (GO:0035987)6.05391769
7sequestering of extracellular ligand from receptor (GO:0035581)6.03675777
8collagen fibril organization (GO:0030199)5.88646544
9wound healing, spreading of cells (GO:0044319)5.84202045
10skin morphogenesis (GO:0043589)5.31211028
11regulation of G0 to G1 transition (GO:0070316)5.16992861
12positive regulation of blood vessel endothelial cell migration (GO:0043536)4.89707744
13regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)4.88851019
14positive regulation of fibroblast migration (GO:0010763)4.80770762
15cartilage development involved in endochondral bone morphogenesis (GO:0060351)4.79366398
16endocardial cushion development (GO:0003197)4.73779892
17positive regulation of macrophage activation (GO:0043032)4.64417673
18regulation of transforming growth factor beta1 production (GO:0032908)4.43329791
19Golgi transport vesicle coating (GO:0048200)4.41628573
20COPI coating of Golgi vesicle (GO:0048205)4.41628573
21plasma membrane repair (GO:0001778)4.41118873
22epithelial cell-cell adhesion (GO:0090136)4.37180340
23cellular response to vitamin D (GO:0071305)4.37060295
24protein localization to endosome (GO:0036010)4.30320878
25negative regulation of adherens junction organization (GO:1903392)4.24494162
26negative regulation of focal adhesion assembly (GO:0051895)4.24494162
27negative regulation of cell junction assembly (GO:1901889)4.24494162
28hemidesmosome assembly (GO:0031581)4.22545981
29substrate-dependent cell migration (GO:0006929)4.14390638
30cellular response to vitamin (GO:0071295)4.08981633
31maintenance of protein localization in endoplasmic reticulum (GO:0035437)4.06514211
32stress fiber assembly (GO:0043149)4.05764069
33cell-substrate junction assembly (GO:0007044)4.02261167
34protein heterotrimerization (GO:0070208)3.98879238
35regulation of dendritic cell antigen processing and presentation (GO:0002604)3.98863594
36negative regulation of chondrocyte differentiation (GO:0032331)3.98154637
37apoptotic cell clearance (GO:0043277)3.95286441
38lymphangiogenesis (GO:0001946)3.94332676
39cell migration involved in sprouting angiogenesis (GO:0002042)3.91819469
40endothelial cell morphogenesis (GO:0001886)3.86792616
41regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.86747630
42mesenchymal-epithelial cell signaling (GO:0060638)3.85770237
43protein localization to cell surface (GO:0034394)3.82211739
44* negative regulation of fibrinolysis (GO:0051918)3.78025858
45positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)3.75684401
46heparan sulfate proteoglycan biosynthetic process (GO:0015012)3.75510940
47regulation of tight junction assembly (GO:2000810)3.72543666
48adherens junction assembly (GO:0034333)3.69114342
49type B pancreatic cell proliferation (GO:0044342)3.65508235
50protein retention in ER lumen (GO:0006621)3.64322300
51regulation of macrophage chemotaxis (GO:0010758)3.64313284
52hypotonic response (GO:0006971)3.63364757
53positive regulation of collagen biosynthetic process (GO:0032967)3.60224416
54extracellular fibril organization (GO:0043206)3.57874046
55dermatan sulfate biosynthetic process (GO:0030208)3.54804076
56negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)3.47035134
57blood vessel maturation (GO:0001955)3.46195341
58vascular endothelial growth factor signaling pathway (GO:0038084)3.44738052
59negative regulation of anoikis (GO:2000811)3.44592322
60* regulation of plasminogen activation (GO:0010755)3.44544237
61positive regulation of osteoblast proliferation (GO:0033690)3.44058296
62positive regulation of collagen metabolic process (GO:0010714)3.42321235
63venous blood vessel morphogenesis (GO:0048845)3.39623640
64peptidyl-proline hydroxylation (GO:0019511)3.38773207
65vascular endothelial growth factor receptor signaling pathway (GO:0048010)3.36630479
66collagen metabolic process (GO:0032963)3.36132262
67bone trabecula formation (GO:0060346)3.34980245
68mesodermal cell differentiation (GO:0048333)3.33929423
69basement membrane organization (GO:0071711)3.33817940
70kidney mesenchyme development (GO:0072074)3.32939806
71protein maturation by protein folding (GO:0022417)3.32155424
72regulation of mononuclear cell migration (GO:0071675)3.30440318
73positive regulation of epithelial cell migration (GO:0010634)3.30352303
74craniofacial suture morphogenesis (GO:0097094)3.29794848
75axon extension involved in axon guidance (GO:0048846)3.29268337
76neuron projection extension involved in neuron projection guidance (GO:1902284)3.29268337
77regulation of collagen metabolic process (GO:0010712)3.29245800
78regulation of collagen biosynthetic process (GO:0032965)3.26959097
79collagen catabolic process (GO:0030574)3.26721346
80extracellular matrix disassembly (GO:0022617)3.25338457
81cell migration involved in heart development (GO:0060973)3.25332117
82substrate adhesion-dependent cell spreading (GO:0034446)3.24950763
83hippo signaling (GO:0035329)3.22931193
84retina vasculature morphogenesis in camera-type eye (GO:0061299)3.22179997
85positive regulation of transforming growth factor beta production (GO:0071636)3.21680873
86dermatan sulfate metabolic process (GO:0030205)3.17850845
87blood vessel endothelial cell migration (GO:0043534)3.17711094
88fibril organization (GO:0097435)3.12853957
89cell-substrate adherens junction assembly (GO:0007045)3.11563432
90focal adhesion assembly (GO:0048041)3.11563432
91response to fluid shear stress (GO:0034405)3.10601777
92multicellular organismal macromolecule metabolic process (GO:0044259)3.10430398
93COPII vesicle coating (GO:0048208)3.10018711
94positive regulation of epithelial to mesenchymal transition (GO:0010718)3.06238564
95positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)3.05622544
96response to magnesium ion (GO:0032026)3.05511578
97cytoskeletal anchoring at plasma membrane (GO:0007016)3.01600852
98hyaluronan catabolic process (GO:0030214)3.01475266
99* platelet degranulation (GO:0002576)3.01130415
100regulation of metalloenzyme activity (GO:0048552)3.01124140
101dichotomous subdivision of an epithelial terminal unit (GO:0060600)3.00703502
102positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)2.99095005
103response to laminar fluid shear stress (GO:0034616)2.97886942
104heterotypic cell-cell adhesion (GO:0034113)2.97528775
105barbed-end actin filament capping (GO:0051016)2.96336307
106multicellular organismal catabolic process (GO:0044243)2.95078243
107extracellular matrix assembly (GO:0085029)2.94932143
108positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)2.92738877
109UDP-N-acetylglucosamine metabolic process (GO:0006047)2.91607870
110multicellular organismal metabolic process (GO:0044236)2.91104829
111actin filament depolymerization (GO:0030042)2.89898963
112positive regulation of cartilage development (GO:0061036)2.89226106
113cellular response to interferon-alpha (GO:0035457)2.88783121
114epoxygenase P450 pathway (GO:0019373)2.87626577
115protein hydroxylation (GO:0018126)2.86742344
116extracellular negative regulation of signal transduction (GO:1900116)2.86355600
117extracellular regulation of signal transduction (GO:1900115)2.86355600
118platelet aggregation (GO:0070527)2.85187330
119regulation of hippo signaling (GO:0035330)2.84985197
120membrane raft organization (GO:0031579)2.84341110
121positive regulation of astrocyte differentiation (GO:0048711)2.83784156
122sprouting angiogenesis (GO:0002040)2.82577523
123negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)2.82217783
124positive regulation of axon extension (GO:0045773)2.80816970
125cellular response to nutrient (GO:0031670)2.80299227
126negative regulation of nitric-oxide synthase activity (GO:0051001)2.80162755
127semaphorin-plexin signaling pathway (GO:0071526)2.80045065
128* extracellular matrix organization (GO:0030198)2.79717494
129chronic inflammatory response (GO:0002544)2.79717133
130regulation of cartilage development (GO:0061035)2.79651476
131regulation of blood vessel endothelial cell migration (GO:0043535)2.79105308
132cell-substrate adhesion (GO:0031589)2.78724230
133activation of signaling protein activity involved in unfolded protein response (GO:0006987)2.78585078
134* extracellular structure organization (GO:0043062)2.78507952
135SMAD protein complex assembly (GO:0007183)2.78004248
136positive regulation of endothelial cell migration (GO:0010595)2.77236273
137cell-matrix adhesion (GO:0007160)2.75872183
138regulation of anoikis (GO:2000209)2.75391547
139nucleotide-sugar biosynthetic process (GO:0009226)2.68682794
140facial nerve structural organization (GO:0021612)2.67611903
141regulation of chondrocyte differentiation (GO:0032330)2.67523050
142regulation of cell migration involved in sprouting angiogenesis (GO:0090049)2.67063716
143negative regulation of cartilage development (GO:0061037)2.66677458
144vesicle coating (GO:0006901)2.66356616
145regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)2.65768358

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human6.82704645
2TP63_17297297_ChIP-ChIP_HaCaT_Human6.75676303
3RARG_19884340_ChIP-ChIP_MEFs_Mouse5.19237289
4NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse3.34352097
5* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse3.15921753
6PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse3.06095301
7EGR1_19374776_ChIP-ChIP_THP-1_Human2.96358394
8TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.86033599
9* SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.82601608
10* CLOCK_20551151_ChIP-Seq_293T_Human2.68958955
11* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.66108787
12HIF1A_21447827_ChIP-Seq_MCF-7_Human2.46129313
13SMAD_19615063_ChIP-ChIP_OVARY_Human2.38723626
14* CJUN_26792858_Chip-Seq_BT549_Human2.31555844
15* SMAD2_18955504_ChIP-ChIP_HaCaT_Human2.26839176
16* SMAD3_18955504_ChIP-ChIP_HaCaT_Human2.26839176
17BRD4_25478319_ChIP-Seq_HGPS_Human2.22505800
18CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.22065246
19* ELK3_25401928_ChIP-Seq_HUVEC_Human2.16834850
20EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.09484064
21ESR2_21235772_ChIP-Seq_MCF-7_Human2.09419144
22WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse2.04297934
23THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.02353330
24EP300_21415370_ChIP-Seq_HL-1_Mouse2.00759594
25CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.97471006
26WT1_19549856_ChIP-ChIP_CCG9911_Human1.93243091
27* PPAR_26484153_Chip-Seq_NCI-H1993_Human1.92096215
28SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.89501223
29ATF3_27146783_Chip-Seq_COLON_Human1.88483958
30NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.85117991
31P300_27058665_Chip-Seq_ZR-75-30cells_Human1.83173593
32TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.81019373
33CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.79748676
34TP53_16413492_ChIP-PET_HCT116_Human1.78594540
35ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.76716048
36* RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.72792040
37* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.71462389
38* ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.69569688
39FOXO3_23340844_ChIP-Seq_DLD1_Human1.69077594
40* NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.67428385
41* NRF2_20460467_ChIP-Seq_MEFs_Mouse1.67428385
42TP53_22127205_ChIP-Seq_IMR90_Human1.66602483
43SMC1_22415368_ChIP-Seq_MEFs_Mouse1.60804260
44* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.60618246
45TP53_23651856_ChIP-Seq_MEFs_Mouse1.52361936
46UBF1/2_26484160_Chip-Seq_HMECs_Human1.48134168
47NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.47858777
48KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.47075598
49* SOX2_20726797_ChIP-Seq_SW620_Human1.45758672
50ESR1_21235772_ChIP-Seq_MCF-7_Human1.45508226
51RACK7_27058665_Chip-Seq_MCF-7_Human1.42549043
52CDX2_19796622_ChIP-Seq_MESCs_Mouse1.39948369
53SALL4_18804426_ChIP-ChIP_XEN_Mouse1.39780726
54BP1_19119308_ChIP-ChIP_Hs578T_Human1.38553616
55* KDM2B_26808549_Chip-Seq_SUP-B15_Human1.38527989
56* ELK1_22589737_ChIP-Seq_MCF10A_Human1.36298447
57DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.36219680
58UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.33236578
59ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.32716026
60TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.30524035
61TP53_18474530_ChIP-ChIP_U2OS_Human1.29744259
62MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.25899193
63FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.24620414
64FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.23928794
65SOX9_24532713_ChIP-Seq_HFSC_Mouse1.22988182
66TP53_20018659_ChIP-ChIP_R1E_Mouse1.21955136
67SMC3_22415368_ChIP-Seq_MEFs_Mouse1.20268864
68* KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.14590286
69HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.14328259
70TBX20_22328084_ChIP-Seq_HEART_Mouse1.14306878
71TBX20_22080862_ChIP-Seq_HEART_Mouse1.14306878
72HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.13822928
73TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.11900288
74* TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.11050367
75ZNF217_24962896_ChIP-Seq_MCF-7_Human1.10323708
76SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.09081509
77KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.09004055
78* P63_26484246_Chip-Seq_KERATINOCYTES_Human1.08331117
79ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.07358739
80KDM2B_26808549_Chip-Seq_K562_Human1.07352195
81KDM2B_26808549_Chip-Seq_DND41_Human1.07258912
82KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.05792320
83* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.05456758
84EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.05209208
85KLF5_25053715_ChIP-Seq_YYC3_Human1.04911703
86* GATA2_21666600_ChIP-Seq_HMVEC_Human1.01856160
87TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.00432470
88NFI_21473784_ChIP-Seq_ESCs_Mouse1.00337815
89NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.00254941
90* ZFP281_27345836_Chip-Seq_ESCs_Mouse0.99654397
91* FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.99559821
92LXR_22292898_ChIP-Seq_THP-1_Human0.97778023
93AR_21909140_ChIP-Seq_LNCAP_Human0.97109243
94TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.94687882
95ZNF263_19887448_ChIP-Seq_K562_Human0.94289729
96TCF3_18692474_ChIP-Seq_MEFs_Mouse0.93668816
97BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.92495748
98ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.92430040
99* NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.91341857
100DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.90061719
101EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.90043848
102TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.87705376
103SA1_22415368_ChIP-Seq_MEFs_Mouse0.86658931
104ESR1_17901129_ChIP-ChIP_LIVER_Mouse0.85832618
105PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.85822785
106NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.84836641
107* TET1_21490601_ChIP-Seq_MESCs_Mouse0.84492552
108NFIB_24661679_ChIP-Seq_LUNG_Mouse0.84360271
109ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.84357972
110POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.84119908
111STAT6_21828071_ChIP-Seq_BEAS2B_Human0.82922694
112* TP63_23658742_ChIP-Seq_EP156T_Human0.82848204
113SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.82541206
114CTNNB1_20460455_ChIP-Seq_HCT116_Human0.81840738
115CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.81526866
116MYB_21317192_ChIP-Seq_ERMYB_Mouse0.79718815

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen7.02048002
2MP0003279_aneurysm4.41072605
3MP0005275_abnormal_skin_tensile4.35219591
4MP0010352_gastrointestinal_tract_polyps4.28937531
5MP0003705_abnormal_hypodermis_morpholog4.11025291
6MP0005623_abnormal_meninges_morphology3.78433218
7MP0003566_abnormal_cell_adhesion3.67460417
8MP0005503_abnormal_tendon_morphology3.39756715
9MP0001348_abnormal_lacrimal_gland2.99983454
10MP0003091_abnormal_cell_migration2.77989006
11MP0001958_emphysema2.73394481
12MP0004272_abnormal_basement_membrane2.55166001
13MP0005257_abnormal_intraocular_pressure2.39924285
14MP0002295_abnormal_pulmonary_circulatio2.35061002
15* MP0005023_abnormal_wound_healing2.30002625
16MP0006054_spinal_hemorrhage2.25980304
17MP0009384_cardiac_valve_regurgitation2.07286451
18MP0001879_abnormal_lymphatic_vessel2.07249794
19MP0000013_abnormal_adipose_tissue1.93384169
20MP0001243_abnormal_dermal_layer1.90710944
21MP0005508_abnormal_skeleton_morphology1.87833169
22MP0002060_abnormal_skin_morphology1.80158778
23MP0002877_abnormal_melanocyte_morpholog1.75703139
24MP0010030_abnormal_orbit_morphology1.66516382
25MP0000767_abnormal_smooth_muscle1.65082812
26MP0001542_abnormal_bone_strength1.54279268
27MP0003385_abnormal_body_wall1.53697693
28MP0009053_abnormal_anal_canal1.53650222
29MP0000733_abnormal_muscle_development1.51399619
30MP0009250_abnormal_appendicular_skeleto1.50765283
31MP0001849_ear_inflammation1.49454539
32MP0003283_abnormal_digestive_organ1.48181633
33MP0003045_fibrosis1.43508006
34MP0009780_abnormal_chondrocyte_physiolo1.42539289
35MP0003191_abnormal_cellular_cholesterol1.41319770
36MP0001299_abnormal_eye_distance/1.40218376
37MP0002896_abnormal_bone_mineralization1.36333317
38MP0005084_abnormal_gallbladder_morpholo1.30198537
39MP0003941_abnormal_skin_development1.29188007
40MP0000750_abnormal_muscle_regeneration1.27064957
41MP0005360_urolithiasis1.26172349
42MP0005390_skeleton_phenotype1.24634785
43MP0004233_abnormal_muscle_weight1.22009982
44MP0002168_other_aberrant_phenotype1.18650568
45MP0010368_abnormal_lymphatic_system1.16524440
46MP0008004_abnormal_stomach_pH1.10619668
47MP0002282_abnormal_trachea_morphology1.10218074
48MP0000762_abnormal_tongue_morphology1.06071663
49MP0000467_abnormal_esophagus_morphology1.05895551
50MP0000163_abnormal_cartilage_morphology1.05803147
51MP0003755_abnormal_palate_morphology1.05172368
52MP0003303_peritoneal_inflammation1.04964975
53MP0000003_abnormal_adipose_tissue1.04814011
54MP0004134_abnormal_chest_morphology1.02172162
55MP0003828_pulmonary_edema1.01343933
56MP0003115_abnormal_respiratory_system1.00803771
57* MP0001614_abnormal_blood_vessel0.99457832
58* MP0002128_abnormal_blood_circulation0.98321509
59MP0002113_abnormal_skeleton_development0.97463166
60MP0003448_altered_tumor_morphology0.94606919
61MP0003300_gastrointestinal_ulcer0.94575696
62MP0004858_abnormal_nervous_system0.94248004
63MP0000858_altered_metastatic_potential0.93447965
64MP0002108_abnormal_muscle_morphology0.92666112
65MP0002928_abnormal_bile_duct0.91129140
66MP0002998_abnormal_bone_remodeling0.90296549
67MP0002933_joint_inflammation0.89634757
68MP0001533_abnormal_skeleton_physiology0.89252456
69MP0006138_congestive_heart_failure0.88983332
70MP0003942_abnormal_urinary_system0.88913404
71MP0001915_intracranial_hemorrhage0.88062372
72MP0002932_abnormal_joint_morphology0.87921817
73MP0002115_abnormal_skeleton_extremities0.87838797
74MP0005165_increased_susceptibility_to0.87033547
75MP0001727_abnormal_embryo_implantation0.86189840
76MP0000537_abnormal_urethra_morphology0.85963065
77MP0005076_abnormal_cell_differentiation0.84509688
78MP0004084_abnormal_cardiac_muscle0.82514567
79MP0005595_abnormal_vascular_smooth0.82228023
80MP0009840_abnormal_foam_cell0.81995594
81* MP0002925_abnormal_cardiovascular_devel0.81298751
82MP0004087_abnormal_muscle_fiber0.80008475
83MP0002089_abnormal_postnatal_growth/wei0.79948702
84MP0005164_abnormal_response_to0.79564440
85MP0002111_abnormal_tail_morphology0.79120500
86MP0000428_abnormal_craniofacial_morphol0.78081446
87MP0000432_abnormal_head_morphology0.77522199
88MP0002697_abnormal_eye_size0.75121941
89MP0002177_abnormal_outer_ear0.74917189
90MP0008775_abnormal_heart_ventricle0.73804278
91MP0005193_abnormal_anterior_eye0.73624372
92MP0003795_abnormal_bone_structure0.73201988
93MP0005409_darkened_coat_color0.72889278
94MP0005375_adipose_tissue_phenotype0.72494308
95MP0002233_abnormal_nose_morphology0.70430204
96MP0003935_abnormal_craniofacial_develop0.69764141
97MP0005197_abnormal_uvea_morphology0.69584792
98MP0010386_abnormal_urinary_bladder0.68400864
99MP0005330_cardiomyopathy0.68371766
100MP0000749_muscle_degeneration0.68105630
101MP0003329_amyloid_beta_deposits0.68076858
102MP0003868_abnormal_feces_composition0.68071190
103MP0004808_abnormal_hematopoietic_stem0.67330602
104MP0005621_abnormal_cell_physiology0.66256902
105MP0000759_abnormal_skeletal_muscle0.65660135
106MP0010630_abnormal_cardiac_muscle0.63874119
107* MP0001175_abnormal_lung_morphology0.63159754
108MP0005451_abnormal_body_composition0.63112479
109MP0004510_myositis0.62942198
110MP0000534_abnormal_ureter_morphology0.60963602
111MP0001661_extended_life_span0.60777259
112MP0000462_abnormal_digestive_system0.59315934
113MP0002332_abnormal_exercise_endurance0.59060361
114MP0003453_abnormal_keratinocyte_physiol0.58839673
115MP0000249_abnormal_blood_vessel0.58720332
116MP0005501_abnormal_skin_physiology0.58556408
117MP0003950_abnormal_plasma_membrane0.58231599
118MP0002116_abnormal_craniofacial_bone0.57772176
119MP0000343_altered_response_to0.57377067
120MP0000751_myopathy0.57134263
121MP0003959_abnormal_lean_body0.55852471
122MP0005058_abnormal_lysosome_morphology0.54907006

Predicted human phenotypes

RankGene SetZ-score
1Premature rupture of membranes (HP:0001788)8.91154840
2Protrusio acetabuli (HP:0003179)8.07113246
3Peritonitis (HP:0002586)5.93015677
4Aortic dissection (HP:0002647)5.08977586
5Atrophic scars (HP:0001075)5.06102783
6Shallow orbits (HP:0000586)4.96588077
7Fragile skin (HP:0001030)4.34641547
8Soft skin (HP:0000977)4.12209739
9Dilatation of the ascending aorta (HP:0005111)4.11497832
10Cerebral aneurysm (HP:0004944)4.06798030
11Abnormality of dentin (HP:0010299)3.96009941
12Cervical subluxation (HP:0003308)3.95360158
13Genu recurvatum (HP:0002816)3.94205898
14Aortic aneurysm (HP:0004942)3.69667502
15Bladder diverticulum (HP:0000015)3.66502278
16Short nail (HP:0001799)3.38653997
17Follicular hyperkeratosis (HP:0007502)3.38597324
18Wormian bones (HP:0002645)3.38448524
19Mitral valve prolapse (HP:0001634)3.35615601
20Blue sclerae (HP:0000592)3.29768309
21Ankle contracture (HP:0006466)3.29523758
22Vertebral compression fractures (HP:0002953)3.29063548
23Biconcave vertebral bodies (HP:0004586)3.26077546
24Increased connective tissue (HP:0009025)3.16621923
25Spondylolisthesis (HP:0003302)3.06804482
26Wrist flexion contracture (HP:0001239)3.06197810
27Infantile muscular hypotonia (HP:0008947)3.05330101
28Bowel diverticulosis (HP:0005222)3.03106299
29Neonatal short-limb short stature (HP:0008921)3.00569782
30Camptodactyly of toe (HP:0001836)3.00109634
31Aortic regurgitation (HP:0001659)2.94061966
32Spinal rigidity (HP:0003306)2.92116609
33Difficulty climbing stairs (HP:0003551)2.87744301
34Abnormal delivery (HP:0001787)2.86235903
35Distal upper limb amyotrophy (HP:0007149)2.85095652
36Upper limb amyotrophy (HP:0009129)2.85095652
37Broad metatarsal (HP:0001783)2.83302221
38Broad face (HP:0000283)2.76972806
39Ectopia lentis (HP:0001083)2.76153563
40Radial bowing (HP:0002986)2.74821656
41Abnormality of the calcaneus (HP:0008364)2.71404076
42Abnormality of the peritoneum (HP:0002585)2.65144840
43Increased density of long bones (HP:0006392)2.64335332
44Abnormality of the acetabulum (HP:0003170)2.62733573
45Distal lower limb amyotrophy (HP:0008944)2.61759947
46Aortic valve stenosis (HP:0001650)2.58447439
47Increased mean platelet volume (HP:0011877)2.57952005
48Hyperextensible skin (HP:0000974)2.56899856
49Cardiovascular calcification (HP:0011915)2.48976455
50Disproportionate tall stature (HP:0001519)2.48214898
51Elbow flexion contracture (HP:0002987)2.47012558
52Tibial bowing (HP:0002982)2.46708377
53Vascular tortuosity (HP:0004948)2.42574956
54Mitral stenosis (HP:0001718)2.42523008
55Right ventricular cardiomyopathy (HP:0011663)2.40075576
56Aneurysm (HP:0002617)2.40033282
57Bowing of the arm (HP:0006488)2.39548234
58Bowed forearm bones (HP:0003956)2.39548234
59Flexion contracture of toe (HP:0005830)2.38505083
60Joint contractures involving the joints of the feet (HP:0100492)2.38505083
61Slender build (HP:0001533)2.33896161
62Entropion (HP:0000621)2.33558865
63Congenital glaucoma (HP:0001087)2.31451388
64Hallux valgus (HP:0001822)2.30178402
65Overgrowth (HP:0001548)2.29855441
66Round ear (HP:0100830)2.29761569
67Deviation of the hallux (HP:0010051)2.28903433
68Muscle fiber splitting (HP:0003555)2.25644446
69Mesomelia (HP:0003027)2.25083227
70Ulnar bowing (HP:0003031)2.24873492
71Thin bony cortex (HP:0002753)2.24376359
72Fused cervical vertebrae (HP:0002949)2.23407763
73Abnormal platelet volume (HP:0011876)2.23342252
74Osteolytic defects of the phalanges of the hand (HP:0009771)2.22863803
75Osteolytic defects of the hand bones (HP:0009699)2.22863803
76Spinal cord compression (HP:0002176)2.22635999
77Scapular winging (HP:0003691)2.21062987
78Reduced subcutaneous adipose tissue (HP:0003758)2.10223578
79Coxa vara (HP:0002812)2.09954482
80Chondrocalcinosis (HP:0000934)2.09606762
81Buphthalmos (HP:0000557)2.07514708
82Renal duplication (HP:0000075)2.04872683
83Abnormality of carpal bone ossification (HP:0006257)2.03678252
84Wide anterior fontanel (HP:0000260)2.01230584
85Mitral regurgitation (HP:0001653)2.00055954
86Increased variability in muscle fiber diameter (HP:0003557)1.99538001
87Lower limb amyotrophy (HP:0007210)1.98863317
88Hand muscle atrophy (HP:0009130)1.97082672
89Joint laxity (HP:0001388)1.96707294
90Joint stiffness (HP:0001387)1.96093944
91Type 1 muscle fiber predominance (HP:0003803)1.95855518
92Venous abnormality (HP:0002624)1.95431487
93Arterial tortuosity (HP:0005116)1.95232910
94Abnormal ossification of hand bones (HP:0005921)1.95100282
95Inguinal hernia (HP:0000023)1.93140607
96Abnormality of Sharpey fibers (HP:0100685)1.93022002
97Fibular aplasia (HP:0002990)1.90603528
98Bronchomalacia (HP:0002780)1.90038213
99Femoral bowing (HP:0002980)1.89634364
100Nonimmune hydrops fetalis (HP:0001790)1.89306012
101Generalized amyotrophy (HP:0003700)1.89240099
102Broad ribs (HP:0000885)1.89179076
103Syringomyelia (HP:0003396)1.89005308
104Spinal cord lesions (HP:0100561)1.89005308
105Long toe (HP:0010511)1.88863892
106Abnormal vertebral ossification (HP:0100569)1.87010046
107Abnormality of the Achilles tendon (HP:0005109)1.86248017
108Tarsal synostosis (HP:0008368)1.85463016
109Abnormality of the anterior chamber (HP:0000593)1.84903143
110Natal tooth (HP:0000695)1.84496806
111Hypoventilation (HP:0002791)1.84401523
112Short clavicles (HP:0000894)1.84087669
113Breech presentation (HP:0001623)1.83926100
114Broad long bones (HP:0005622)1.83480515
115Xerostomia (HP:0000217)1.82951287
116Flat acetabular roof (HP:0003180)1.82210844
117Protruding ear (HP:0000411)1.81964083
118Ovoid vertebral bodies (HP:0003300)1.81322062
119Mildly elevated creatine phosphokinase (HP:0008180)1.80995491
120Knee flexion contracture (HP:0006380)1.80229001
121Achilles tendon contracture (HP:0001771)1.79940978
122Beaking of vertebral bodies (HP:0004568)1.78831405
123Abnormality of skeletal muscle fiber size (HP:0012084)1.78370716
124Distal lower limb muscle weakness (HP:0009053)1.76137211
125Hyperacusis (HP:0010780)1.72522703
126Striae distensae (HP:0001065)1.71726743
127Arachnodactyly (HP:0001166)1.71161280
128Abnormality of skull ossification (HP:0002703)1.70041935

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TTN5.52357041
2TRIB34.05322884
3EPHA23.95077157
4DDR23.59789005
5LATS23.29122459
6PKN22.89622474
7PDGFRA2.88104696
8TIE12.74789612
9LATS12.69912866
10PAK22.61626766
11ERN12.51506264
12IRAK32.45359003
13PTK22.44888904
14BMX2.19536464
15TRPM72.17254029
16PAK32.14972616
17TESK11.96314693
18EPHB21.95812815
19RIPK11.94935604
20LIMK11.72788262
21PIM21.68848053
22FER1.62901468
23PTK2B1.60014161
24DMPK1.55220490
25PIK3CG1.51285215
26LRRK21.49911900
27PAK41.48422239
28MOS1.40472674
29PTK61.39445542
30RPS6KA41.27858253
31MYLK1.27381193
32ARAF1.14922762
33MST1R1.10964343
34MAP3K31.07888599
35MTOR1.05368878
36PIK3CA1.04065359
37STK31.03478279
38MET1.02658247
39PDGFRB1.01637892
40MAP3K61.01335327
41KDR1.01106567
42DAPK30.98713661
43ICK0.97826971
44LMTK20.97016168
45ILK0.96123830
46STK38L0.95901206
47CDK80.95435860
48WNK10.94593756
49ERBB40.94579315
50ZAP700.93074606
51STK100.92129005
52NTRK10.89941954
53MAP2K10.89410772
54INSR0.89362837
55PRKG20.87959896
56ROCK10.86198553
57FGFR10.84363702
58ABL20.83774781
59EPHB10.81751782
60CDC42BPA0.80680638
61TAOK10.77717489
62PAK10.76795091
63MAP3K130.76654421
64MAP3K120.75315439
65MAP2K30.73925502
66EPHA30.73236797
67RET0.72768842
68MAP3K80.69542738
69SIK10.69358150
70MAP3K100.68238080
71MAPKAPK30.66818406
72CLK10.64390787
73TESK20.64328325
74JAK30.64203516
75EEF2K0.63671809
76CSK0.63467026
77PRKD20.61968633
78PRKD10.61308398
79GSK3A0.61209495
80NME20.59355890
81RPS6KB20.58255697
82ROCK20.57643950
83MELK0.57418177
84ERBB30.54372633
85WNK40.53341588
86SCYL20.52275512
87ALK0.51123523
88PRKD30.49788972
89PAK60.49210306
90FLT30.48577887
91SRC0.47671462
92PRKCH0.47522002
93NEK90.47484081
94CAMKK10.47124090
95KSR10.46734284
96CDK140.46342167
97CDK150.44325094
98CDK60.43849206
99TGFBR20.43504213
100KSR20.42718417
101TGFBR10.42334273
102MAP3K110.42323365
103AKT30.41920228
104MAPKAPK20.41785986
105TAOK20.41746874
106SMG10.40666822
107PDPK10.40664464
108NEK10.40099548
109ABL10.39973839
110TBK10.39021150
111EGFR0.38909680
112CDK180.38426793
113HCK0.38032202
114NEK20.37085694
115CDK11A0.37004171
116FGFR40.34595736
117ADRBK10.33909469
118FYN0.30736912
119CAMK2D0.28390284
120STK380.28115986
121MAPKAPK50.27697587
122RPS6KA20.27142435
123PLK20.26773667
124MAPK70.26468870
125BRAF0.25969476
126CDK90.25734014
127FGR0.25646580
128MAP3K140.24829909
129TNK20.24299580
130DYRK1B0.23601915
131PRPF4B0.23267886
132TYRO30.22785482
133MAPK10.21051645
134CAMK2G0.20877253
135BRSK10.19589851

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045124.46260113
2Focal adhesion_Homo sapiens_hsa045103.48050108
3Bladder cancer_Homo sapiens_hsa052193.23883791
4Proteoglycans in cancer_Homo sapiens_hsa052052.73609510
5Bacterial invasion of epithelial cells_Homo sapiens_hsa051002.72942990
6Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.61054480
7Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.56786534
8Glycosaminoglycan degradation_Homo sapiens_hsa005312.44135205
9Amoebiasis_Homo sapiens_hsa051462.42422976
10Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.40475040
11Malaria_Homo sapiens_hsa051442.33774373
12Dilated cardiomyopathy_Homo sapiens_hsa054142.30243470
13Shigellosis_Homo sapiens_hsa051312.21802096
14Adherens junction_Homo sapiens_hsa045202.17419515
15MicroRNAs in cancer_Homo sapiens_hsa052062.16703920
16TGF-beta signaling pathway_Homo sapiens_hsa043502.08755670
17Small cell lung cancer_Homo sapiens_hsa052222.02917695
18Regulation of actin cytoskeleton_Homo sapiens_hsa048101.96938124
19* AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.84597916
20* Hippo signaling pathway_Homo sapiens_hsa043901.73881203
21Chronic myeloid leukemia_Homo sapiens_hsa052201.70238580
22Leukocyte transendothelial migration_Homo sapiens_hsa046701.68659955
23PI3K-Akt signaling pathway_Homo sapiens_hsa041511.62946662
24Other glycan degradation_Homo sapiens_hsa005111.61285467
25Protein digestion and absorption_Homo sapiens_hsa049741.59498284
26Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.54926739
27Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.48460136
28* p53 signaling pathway_Homo sapiens_hsa041151.44032524
29Rap1 signaling pathway_Homo sapiens_hsa040151.34747448
30Melanoma_Homo sapiens_hsa052181.34056761
31Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.29128682
32TNF signaling pathway_Homo sapiens_hsa046681.25284573
33Phagosome_Homo sapiens_hsa041451.25185149
34Tight junction_Homo sapiens_hsa045301.24416365
35Salmonella infection_Homo sapiens_hsa051321.24285388
36Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.22855074
37Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.20834675
38Platelet activation_Homo sapiens_hsa046111.19207844
39Glioma_Homo sapiens_hsa052141.13274215
40Leishmaniasis_Homo sapiens_hsa051401.09934627
41Pancreatic cancer_Homo sapiens_hsa052121.08680137
42Renal cell carcinoma_Homo sapiens_hsa052111.06633509
43Toxoplasmosis_Homo sapiens_hsa051450.97214336
44VEGF signaling pathway_Homo sapiens_hsa043700.94773374
45Viral myocarditis_Homo sapiens_hsa054160.93535927
46Galactose metabolism_Homo sapiens_hsa000520.93306075
47Prostate cancer_Homo sapiens_hsa052150.92409563
48Pathways in cancer_Homo sapiens_hsa052000.88538449
49Apoptosis_Homo sapiens_hsa042100.88514676
50Axon guidance_Homo sapiens_hsa043600.85018266
51Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.83351900
52Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.82087533
53HTLV-I infection_Homo sapiens_hsa051660.79754722
54Basal cell carcinoma_Homo sapiens_hsa052170.78115329
55Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.77714145
56Gap junction_Homo sapiens_hsa045400.76897914
57Sulfur metabolism_Homo sapiens_hsa009200.75449543
58Neurotrophin signaling pathway_Homo sapiens_hsa047220.75153429
59Pertussis_Homo sapiens_hsa051330.73757646
60ErbB signaling pathway_Homo sapiens_hsa040120.72486296
61Hematopoietic cell lineage_Homo sapiens_hsa046400.69231574
62Viral carcinogenesis_Homo sapiens_hsa052030.68961321
63Estrogen signaling pathway_Homo sapiens_hsa049150.68416879
64MAPK signaling pathway_Homo sapiens_hsa040100.68017568
65Hepatitis B_Homo sapiens_hsa051610.66996079
66Ras signaling pathway_Homo sapiens_hsa040140.66415601
67Osteoclast differentiation_Homo sapiens_hsa043800.65891718
68GnRH signaling pathway_Homo sapiens_hsa049120.65588028
69Endocytosis_Homo sapiens_hsa041440.65383682
70* HIF-1 signaling pathway_Homo sapiens_hsa040660.63892164
71Central carbon metabolism in cancer_Homo sapiens_hsa052300.63757550
72Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.59973539
73Pentose phosphate pathway_Homo sapiens_hsa000300.58990102
74Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.58418460
75Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.58310411
76Colorectal cancer_Homo sapiens_hsa052100.57786848
77Rheumatoid arthritis_Homo sapiens_hsa053230.57562645
78Vascular smooth muscle contraction_Homo sapiens_hsa042700.55065240
79Phospholipase D signaling pathway_Homo sapiens_hsa040720.53937123
80Hedgehog signaling pathway_Homo sapiens_hsa043400.53578562
81Ovarian steroidogenesis_Homo sapiens_hsa049130.52586962
82Melanogenesis_Homo sapiens_hsa049160.52313913
83African trypanosomiasis_Homo sapiens_hsa051430.50492593
84FoxO signaling pathway_Homo sapiens_hsa040680.49860854
85Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.48808786
86Lysosome_Homo sapiens_hsa041420.48675977
87Wnt signaling pathway_Homo sapiens_hsa043100.47717093
88Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.46548085
89* Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.45113884
90Sphingolipid metabolism_Homo sapiens_hsa006000.44766066
91mTOR signaling pathway_Homo sapiens_hsa041500.43002059
92Endometrial cancer_Homo sapiens_hsa052130.40975821
93Prion diseases_Homo sapiens_hsa050200.40493255
94Tuberculosis_Homo sapiens_hsa051520.39767835
95Fructose and mannose metabolism_Homo sapiens_hsa000510.39245436
96Acute myeloid leukemia_Homo sapiens_hsa052210.38656104
97SNARE interactions in vesicular transport_Homo sapiens_hsa041300.38390433
98N-Glycan biosynthesis_Homo sapiens_hsa005100.38279459
99Thyroid cancer_Homo sapiens_hsa052160.36848086
100Adipocytokine signaling pathway_Homo sapiens_hsa049200.35210998
101Non-small cell lung cancer_Homo sapiens_hsa052230.34167962
102Thyroid hormone synthesis_Homo sapiens_hsa049180.31275244
103Longevity regulating pathway - mammal_Homo sapiens_hsa042110.31244882
104Oxytocin signaling pathway_Homo sapiens_hsa049210.29097210
105Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.28500077
106Choline metabolism in cancer_Homo sapiens_hsa052310.27920364
107Notch signaling pathway_Homo sapiens_hsa043300.27265580
108Sphingolipid signaling pathway_Homo sapiens_hsa040710.26647862
109Vibrio cholerae infection_Homo sapiens_hsa051100.26283043
110* Complement and coagulation cascades_Homo sapiens_hsa046100.24526491
111Insulin resistance_Homo sapiens_hsa049310.24054070
112AMPK signaling pathway_Homo sapiens_hsa041520.24049241
113Prolactin signaling pathway_Homo sapiens_hsa049170.23645824
114Thyroid hormone signaling pathway_Homo sapiens_hsa049190.21718052

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