SVEP1

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: No gene information available for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1protein heterotrimerization (GO:0070208)7.91509895
2collagen fibril organization (GO:0030199)7.49561611
3bone trabecula formation (GO:0060346)6.86918063
4sequestering of extracellular ligand from receptor (GO:0035581)6.41772957
5estrogen biosynthetic process (GO:0006703)6.16385556
6chondrocyte proliferation (GO:0035988)5.31989716
7collagen metabolic process (GO:0032963)5.11503197
8collagen catabolic process (GO:0030574)5.03745440
9regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)5.00543666
10skin morphogenesis (GO:0043589)4.91209296
11multicellular organismal macromolecule metabolic process (GO:0044259)4.86603634
12endodermal cell differentiation (GO:0035987)4.86081901
13neuron projection extension involved in neuron projection guidance (GO:1902284)4.82380084
14axon extension involved in axon guidance (GO:0048846)4.82380084
15extracellular matrix assembly (GO:0085029)4.76565805
16extracellular fibril organization (GO:0043206)4.71827065
17multicellular organismal catabolic process (GO:0044243)4.64843148
18multicellular organismal metabolic process (GO:0044236)4.62181637
19mesenchymal-epithelial cell signaling (GO:0060638)4.40368494
20fibril organization (GO:0097435)4.29759252
21type B pancreatic cell proliferation (GO:0044342)4.28970105
22extracellular matrix disassembly (GO:0022617)4.17011520
23cellular response to vitamin (GO:0071295)4.06572883
24dermatan sulfate biosynthetic process (GO:0030208)4.02278443
25basement membrane organization (GO:0071711)4.00110607
26keratan sulfate catabolic process (GO:0042340)3.98606530
27metanephric mesenchyme development (GO:0072075)3.93338139
28regulation of gonadotropin secretion (GO:0032276)3.91998911
29cartilage development involved in endochondral bone morphogenesis (GO:0060351)3.90617323
30retina vasculature morphogenesis in camera-type eye (GO:0061299)3.89973380
31apoptotic cell clearance (GO:0043277)3.84884407
32response to follicle-stimulating hormone (GO:0032354)3.84099657
33female pregnancy (GO:0007565)3.79956516
34positive regulation of endothelial cell apoptotic process (GO:2000353)3.69488946
35dermatan sulfate metabolic process (GO:0030205)3.68188656
36glomerular basement membrane development (GO:0032836)3.61142545
37kidney mesenchyme development (GO:0072074)3.59573694
38negative regulation of chondrocyte differentiation (GO:0032331)3.59264744
39extracellular negative regulation of signal transduction (GO:1900116)3.58530822
40extracellular regulation of signal transduction (GO:1900115)3.58530822
41regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.58420252
42positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr3.56149351
43craniofacial suture morphogenesis (GO:0097094)3.55187442
44cell adhesion mediated by integrin (GO:0033627)3.54698003
45vascular endothelial growth factor signaling pathway (GO:0038084)3.53396923
46wound healing, spreading of epidermal cells (GO:0035313)3.52725373
47endocardial cushion development (GO:0003197)3.49815874
48blood vessel maturation (GO:0001955)3.46158616
49regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition 3.44634041
50planar cell polarity pathway involved in neural tube closure (GO:0090179)3.36666817
51negative regulation of fatty acid transport (GO:2000192)3.33619005
52positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-3.29714612
53trabecula formation (GO:0060343)3.26586520
54extracellular matrix organization (GO:0030198)3.24749214
55endocrine hormone secretion (GO:0060986)3.24294075
56extracellular structure organization (GO:0043062)3.23346711
57pericardium development (GO:0060039)3.20789659
58cellular response to vitamin D (GO:0071305)3.20075480
59negative regulation of cartilage development (GO:0061037)3.18108571
60regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.17460686
61chondrocyte development (GO:0002063)3.16671454
62estrogen metabolic process (GO:0008210)3.16229912
63epithelial cell-cell adhesion (GO:0090136)3.14792322
64glucocorticoid biosynthetic process (GO:0006704)3.14034027
65insulin-like growth factor receptor signaling pathway (GO:0048009)3.10909418
66plasma membrane repair (GO:0001778)3.10686607
67cell proliferation involved in metanephros development (GO:0072203)3.09367306
68lymphangiogenesis (GO:0001946)3.07529791
69peptidyl-proline hydroxylation (GO:0019511)3.07098815
70regulation of branching involved in salivary gland morphogenesis (GO:0060693)3.06155107
71glomerular filtration (GO:0003094)3.05106811
72cell migration involved in heart development (GO:0060973)3.05036769
73endothelial cell morphogenesis (GO:0001886)3.04236492
74embryonic cranial skeleton morphogenesis (GO:0048701)3.03912836
75protein localization to cell surface (GO:0034394)3.02714878
76regulation of phospholipase A2 activity (GO:0032429)2.99097622
77smooth muscle tissue development (GO:0048745)2.97373579
78adhesion of symbiont to host (GO:0044406)2.93671509
79peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)2.89518919
80regulation of tight junction assembly (GO:2000810)2.88961547
81lymph vessel development (GO:0001945)2.87470640
82negative regulation of catenin import into nucleus (GO:0035414)2.86602856
83venous blood vessel morphogenesis (GO:0048845)2.85886704
84negative regulation of embryonic development (GO:0045992)2.85534184
85outer ear morphogenesis (GO:0042473)2.83944629
86cellular response to amino acid stimulus (GO:0071230)2.83083452
87renal filtration (GO:0097205)2.82941930
88lung vasculature development (GO:0060426)2.81825918
89positive regulation of fatty acid beta-oxidation (GO:0032000)2.79942449
90cellular response to interferon-alpha (GO:0035457)2.79842344
91substrate-dependent cell migration (GO:0006929)2.79529187
92multi-multicellular organism process (GO:0044706)2.79296383
93ovulation from ovarian follicle (GO:0001542)2.79097221
94protein hydroxylation (GO:0018126)2.78123279
95positive regulation of epithelial to mesenchymal transition (GO:0010718)2.76391657
96positive regulation of fibroblast migration (GO:0010763)2.75892628
97positive regulation of extracellular matrix organization (GO:1903055)2.75178341
98wound healing, spreading of cells (GO:0044319)2.73084027
99endothelial cell proliferation (GO:0001935)2.70848947
100barbed-end actin filament capping (GO:0051016)2.70437776
101epoxygenase P450 pathway (GO:0019373)2.69760716
102cellular response to vascular endothelial growth factor stimulus (GO:0035924)2.68568538
103negative regulation of smooth muscle cell migration (GO:0014912)2.67968910
104protein trimerization (GO:0070206)2.67412924
105positive regulation of mesenchymal cell proliferation (GO:0002053)2.67198972
106hippo signaling (GO:0035329)2.67099527
107regulation of integrin-mediated signaling pathway (GO:2001044)2.66972400
108face morphogenesis (GO:0060325)2.66157186
109tooth mineralization (GO:0034505)2.66136648
110opsonization (GO:0008228)2.65783009
111substrate adhesion-dependent cell spreading (GO:0034446)2.65601934
112cell proliferation involved in kidney development (GO:0072111)2.65126515
113middle ear morphogenesis (GO:0042474)2.64982820
114regulation of chemokine-mediated signaling pathway (GO:0070099)2.64620950
115regulation of cartilage development (GO:0061035)2.63885604
116regulation of chondrocyte differentiation (GO:0032330)2.62403713
117negative regulation of BMP signaling pathway (GO:0030514)2.62114926
118virion attachment to host cell (GO:0019062)2.61158433
119adhesion of symbiont to host cell (GO:0044650)2.61158433
120vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.61136350
121muscle cell migration (GO:0014812)2.60439875
122prostate gland growth (GO:0060736)2.60161804
123positive regulation of cartilage development (GO:0061036)2.59199003
124paraxial mesoderm development (GO:0048339)2.58367587
125regulation of smooth muscle cell migration (GO:0014910)2.56402917
126blood vessel morphogenesis (GO:0048514)2.55645534
127myoblast fusion (GO:0007520)2.54329953
128regulation of extracellular matrix disassembly (GO:0010715)2.53040142
129sprouting angiogenesis (GO:0002040)2.53002975
130polarized epithelial cell differentiation (GO:0030859)2.52982822
131cell-substrate junction assembly (GO:0007044)2.52587279
132mesenchymal cell differentiation involved in kidney development (GO:0072161)2.51291092
133mesenchymal cell differentiation involved in renal system development (GO:2001012)2.51291092

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human6.02722984
2RARG_19884340_ChIP-ChIP_MEFs_Mouse4.10298760
3* PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse3.92050985
4TP63_17297297_ChIP-ChIP_HaCaT_Human3.50866399
5MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human3.30892137
6ESR1_22446102_ChIP-Seq_UTERUS_Mouse3.21858877
7CLOCK_20551151_ChIP-Seq_293T_Human2.89900625
8PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.89186405
9* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.77703129
10* CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse2.75912111
11CJUN_26792858_Chip-Seq_BT549_Human2.55987973
12* CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.52705569
13RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.47444850
14EP300_21415370_ChIP-Seq_HL-1_Mouse2.42143687
15WT1_19549856_ChIP-ChIP_CCG9911_Human2.29774808
16SMAD_19615063_ChIP-ChIP_OVARY_Human2.11970982
17NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.08311045
18CDX2_19796622_ChIP-Seq_MESCs_Mouse2.07799475
19* EED_16625203_ChIP-ChIP_MESCs_Mouse2.04714946
20NRF2_20460467_ChIP-Seq_MEFs_Mouse2.02876589
21NFE2L2_20460467_ChIP-Seq_MEFs_Mouse2.02876589
22BRD4_25478319_ChIP-Seq_HGPS_Human1.94836980
23CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.94471827
24EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.90748712
25TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.87469696
26* EZH2_18974828_ChIP-Seq_MESCs_Mouse1.87262586
27* RNF2_18974828_ChIP-Seq_MESCs_Mouse1.87262586
28WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.80313271
29* SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.71492528
30PPAR_26484153_Chip-Seq_NCI-H1993_Human1.68610412
31ESR1_21235772_ChIP-Seq_MCF-7_Human1.68548291
32* SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.66905223
33* SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.65109265
34TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.62084374
35* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.61808983
36HIF1A_21447827_ChIP-Seq_MCF-7_Human1.50289202
37TP53_18474530_ChIP-ChIP_U2OS_Human1.48072100
38TP53_16413492_ChIP-PET_HCT116_Human1.47450549
39ESR2_21235772_ChIP-Seq_MCF-7_Human1.47182388
40* RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.42227096
41BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.41744722
42TBX20_22080862_ChIP-Seq_HEART_Mouse1.41256093
43TBX20_22328084_ChIP-Seq_HEART_Mouse1.41256093
44TP53_20018659_ChIP-ChIP_R1E_Mouse1.40867982
45PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.39155792
46* SOX9_24532713_ChIP-Seq_HFSC_Mouse1.38105573
47ZNF217_24962896_ChIP-Seq_MCF-7_Human1.37180430
48GATA2_21666600_ChIP-Seq_HMVEC_Human1.36402960
49SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.36346865
50SMC1_22415368_ChIP-Seq_MEFs_Mouse1.34832177
51HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.31663321
52* SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.30697922
53* JARID2_20075857_ChIP-Seq_MESCs_Mouse1.30549331
54PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.29360921
55JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.28845672
56* PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.28253964
57* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.27615589
58JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.27417506
59SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.26157986
60SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.26157986
61FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.24778971
62ELK3_25401928_ChIP-Seq_HUVEC_Human1.23623386
63THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.21965758
64ISL1_27105846_Chip-Seq_CPCs_Mouse1.21760110
65SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.19560968
66RBPJ_22232070_ChIP-Seq_NCS_Mouse1.16718490
67DROSHA_22980978_ChIP-Seq_HELA_Human1.15627248
68PIAS1_25552417_ChIP-Seq_VCAP_Human1.15573958
69* MTF2_20144788_ChIP-Seq_MESCs_Mouse1.15329245
70PPARG_20887899_ChIP-Seq_3T3-L1_Mouse1.15133713
71P300_27058665_Chip-Seq_ZR-75-30cells_Human1.15087424
72SOX2_20726797_ChIP-Seq_SW620_Human1.13918997
73TP53_23651856_ChIP-Seq_MEFs_Mouse1.10714055
74FOXO3_23340844_ChIP-Seq_DLD1_Human1.09088444
75CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.08884968
76TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.08545643
77* EZH2_27304074_Chip-Seq_ESCs_Mouse1.07237748
78RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.07206570
79MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.06675145
80EGR1_19032775_ChIP-ChIP_M12_Human1.05978801
81TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.05973167
82EGR1_19374776_ChIP-ChIP_THP-1_Human1.05476711
83GBX2_23144817_ChIP-Seq_PC3_Human1.05184898
84SALL4_18804426_ChIP-ChIP_XEN_Mouse1.04919537
85NR3C1_23031785_ChIP-Seq_PC12_Mouse1.04407056
86SA1_22415368_ChIP-Seq_MEFs_Mouse1.03910255
87WT1_25993318_ChIP-Seq_PODOCYTE_Human1.03697734
88AHR_22903824_ChIP-Seq_MCF-7_Human1.02929246
89* UBF1/2_26484160_Chip-Seq_HMECs_Human1.02782364
90AR_21572438_ChIP-Seq_LNCaP_Human1.02718531
91ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.02692865
92NFIB_24661679_ChIP-Seq_LUNG_Mouse1.02651918
93PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.02558896
94RXR_22108803_ChIP-Seq_LS180_Human1.00053136
95ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.99669820
96AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.99390256
97STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.99386895
98RNF2_27304074_Chip-Seq_ESCs_Mouse0.98804749
99CTNNB1_20460455_ChIP-Seq_HCT116_Human0.98462361
100ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.97053295
101TBX3_20139965_ChIP-Seq_ESCs_Mouse0.96930919
102TBX3_20139965_ChIP-Seq_MESCs_Mouse0.96797833
103JARID2_20064375_ChIP-Seq_MESCs_Mouse0.95924689
104EZH2_27294783_Chip-Seq_ESCs_Mouse0.95361712
105SMC3_22415368_ChIP-Seq_MEFs_Mouse0.95347558
106P63_26484246_Chip-Seq_KERATINOCYTES_Human0.95255997
107TCF4_18268006_ChIP-ChIP_LS174T_Human0.93471092
108RING1B_27294783_Chip-Seq_ESCs_Mouse0.93308060
109TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.92690377
110NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.91115707
111SUZ12_27294783_Chip-Seq_ESCs_Mouse0.91051418
112ARNT_22903824_ChIP-Seq_MCF-7_Human0.89393764
113* DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.89316375
114NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.88921915
115BCAT_22108803_ChIP-Seq_LS180_Human0.88386337
116UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.88265408
117ZFP57_27257070_Chip-Seq_ESCs_Mouse0.86248374
118ESR1_20079471_ChIP-ChIP_T-47D_Human0.85948160
119SMAD4_21799915_ChIP-Seq_A2780_Human0.84434399

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen9.78512944
2MP0005275_abnormal_skin_tensile6.26282488
3MP0005503_abnormal_tendon_morphology5.89841854
4MP0003279_aneurysm4.15046255
5MP0003705_abnormal_hypodermis_morpholog3.95962336
6MP0001958_emphysema3.83385737
7MP0004272_abnormal_basement_membrane2.79625445
8MP0009384_cardiac_valve_regurgitation2.57610289
9MP0006054_spinal_hemorrhage2.47142108
10MP0005257_abnormal_intraocular_pressure2.29480971
11MP0005508_abnormal_skeleton_morphology2.21074695
12MP0002060_abnormal_skin_morphology2.12536932
13MP0002108_abnormal_muscle_morphology2.06568506
14MP0002295_abnormal_pulmonary_circulatio1.98823222
15MP0005623_abnormal_meninges_morphology1.93043707
16MP0003566_abnormal_cell_adhesion1.70812760
17MP0000013_abnormal_adipose_tissue1.66560288
18MP0009250_abnormal_appendicular_skeleto1.55235885
19MP0000751_myopathy1.52381599
20MP0002837_dystrophic_cardiac_calcinosis1.50154315
21MP0001542_abnormal_bone_strength1.48763647
22MP0003385_abnormal_body_wall1.48277748
23MP0005023_abnormal_wound_healing1.47765571
24MP0004134_abnormal_chest_morphology1.43768470
25MP0009697_abnormal_copulation1.39524896
26MP0001243_abnormal_dermal_layer1.34614839
27MP0003045_fibrosis1.31049700
28MP0002896_abnormal_bone_mineralization1.30442894
29MP0000767_abnormal_smooth_muscle1.29458512
30MP0005390_skeleton_phenotype1.28982647
31MP0003950_abnormal_plasma_membrane1.28557982
32MP0002933_joint_inflammation1.28327639
33MP0005670_abnormal_white_adipose1.28232311
34MP0003091_abnormal_cell_migration1.27651034
35MP0005171_absent_coat_pigmentation1.25959397
36MP0000003_abnormal_adipose_tissue1.19110480
37MP0001299_abnormal_eye_distance/1.16898975
38MP0002168_other_aberrant_phenotype1.16240473
39MP0002115_abnormal_skeleton_extremities1.13699489
40MP0002282_abnormal_trachea_morphology1.13203261
41MP0010368_abnormal_lymphatic_system1.11032447
42MP0000163_abnormal_cartilage_morphology1.10678637
43MP0002998_abnormal_bone_remodeling1.10519833
44MP0000733_abnormal_muscle_development1.08730572
45MP0010352_gastrointestinal_tract_polyps1.06968252
46MP0004858_abnormal_nervous_system1.05085479
47MP0003283_abnormal_digestive_organ1.03108372
48MP0010030_abnormal_orbit_morphology1.03036902
49MP0001661_extended_life_span1.02992075
50MP0005375_adipose_tissue_phenotype0.97587997
51MP0000428_abnormal_craniofacial_morphol0.95989579
52MP0001879_abnormal_lymphatic_vessel0.90680250
53MP0003959_abnormal_lean_body0.90519502
54MP0002113_abnormal_skeleton_development0.89007942
55MP0000534_abnormal_ureter_morphology0.88225525
56MP0002932_abnormal_joint_morphology0.87732679
57MP0000750_abnormal_muscle_regeneration0.87411854
58MP0001533_abnormal_skeleton_physiology0.86598465
59MP0003115_abnormal_respiratory_system0.85869557
60MP0005666_abnormal_adipose_tissue0.84699439
61MP0002133_abnormal_respiratory_system0.84001444
62MP0005388_respiratory_system_phenotype0.84001444
63MP0002971_abnormal_brown_adipose0.83288664
64MP0003300_gastrointestinal_ulcer0.80689847
65MP0010386_abnormal_urinary_bladder0.79199177
66MP0005595_abnormal_vascular_smooth0.78170265
67MP0006276_abnormal_autonomic_nervous0.77969089
68MP0002128_abnormal_blood_circulation0.77701605
69MP0001177_atelectasis0.77028794
70MP0003942_abnormal_urinary_system0.76939133
71MP0008775_abnormal_heart_ventricle0.76653358
72MP0004084_abnormal_cardiac_muscle0.75424884
73MP0000462_abnormal_digestive_system0.75031132
74MP0002249_abnormal_larynx_morphology0.74491681
75MP0000759_abnormal_skeletal_muscle0.72479444
76MP0005164_abnormal_response_to0.72447472
77MP0004185_abnormal_adipocyte_glucose0.72425856
78MP0005076_abnormal_cell_differentiation0.71558914
79MP0005647_abnormal_sex_gland0.70936779
80MP0003724_increased_susceptibility_to0.70871060
81MP0005369_muscle_phenotype0.70364906
82MP0002109_abnormal_limb_morphology0.69618950
83MP0004087_abnormal_muscle_fiber0.68904296
84MP0001614_abnormal_blood_vessel0.68427506
85MP0003795_abnormal_bone_structure0.68378833
86MP0003448_altered_tumor_morphology0.67715203
87MP0001175_abnormal_lung_morphology0.66894598
88MP0004130_abnormal_muscle_cell0.66413097
89MP0006138_congestive_heart_failure0.64782560
90MP0009053_abnormal_anal_canal0.64376071
91MP0000049_abnormal_middle_ear0.64014921
92MP0001915_intracranial_hemorrhage0.63785799
93MP0000343_altered_response_to0.63542397
94MP0004883_abnormal_blood_vessel0.63045211
95MP0002089_abnormal_postnatal_growth/wei0.62544708
96MP0002877_abnormal_melanocyte_morpholog0.61794758
97MP0002116_abnormal_craniofacial_bone0.61378408
98MP0008004_abnormal_stomach_pH0.61240146
99MP0005197_abnormal_uvea_morphology0.60172447
100MP0002254_reproductive_system_inflammat0.60111220
101MP0000230_abnormal_systemic_arterial0.60100980
102MP0003755_abnormal_palate_morphology0.60044238
103MP0000762_abnormal_tongue_morphology0.59545253
104MP0000432_abnormal_head_morphology0.59357590
105MP0003935_abnormal_craniofacial_develop0.58675231
106MP0009115_abnormal_fat_cell0.58183824
107MP0000749_muscle_degeneration0.57574065
108MP0009780_abnormal_chondrocyte_physiolo0.56221088
109MP0000681_abnormal_thyroid_gland0.55766145
110MP0005367_renal/urinary_system_phenotyp0.55249233
111MP0000516_abnormal_urinary_system0.55249233
112MP0005330_cardiomyopathy0.55053545
113MP0003941_abnormal_skin_development0.54655306
114MP0001348_abnormal_lacrimal_gland0.54429754
115MP0002111_abnormal_tail_morphology0.52386584
116MP0002925_abnormal_cardiovascular_devel0.52007812
117MP0003828_pulmonary_edema0.51087703
118MP0005193_abnormal_anterior_eye0.50299453
119MP0001849_ear_inflammation0.49914952
120MP0001756_abnormal_urination0.49909212
121MP0000747_muscle_weakness0.49635089
122MP0002127_abnormal_cardiovascular_syste0.49064190

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)9.06583322
2Premature rupture of membranes (HP:0001788)8.62002114
3Aortic dissection (HP:0002647)6.00739279
4Ankle contracture (HP:0006466)5.54564546
5Broad metatarsal (HP:0001783)5.44189290
6Soft skin (HP:0000977)5.30802431
7Shallow orbits (HP:0000586)5.04131145
8Peritonitis (HP:0002586)4.98707971
9Aortic aneurysm (HP:0004942)4.89028690
10Atrophic scars (HP:0001075)4.55965470
11Bladder diverticulum (HP:0000015)4.46497867
12Dilatation of the ascending aorta (HP:0005111)4.36605872
13Cerebral aneurysm (HP:0004944)4.33291773
14Follicular hyperkeratosis (HP:0007502)4.25259226
15Fragile skin (HP:0001030)4.20146095
16Cervical subluxation (HP:0003308)3.92177074
17Mitral valve prolapse (HP:0001634)3.89257544
18Type 1 muscle fiber predominance (HP:0003803)3.88395599
19Genu recurvatum (HP:0002816)3.83140890
20Abnormality of dentin (HP:0010299)3.73142173
21Neonatal short-limb short stature (HP:0008921)3.56957741
22Wrist flexion contracture (HP:0001239)3.52443113
23Blue sclerae (HP:0000592)3.47361146
24Increased connective tissue (HP:0009025)3.46429065
25Wormian bones (HP:0002645)3.44830953
26Vertebral compression fractures (HP:0002953)3.39674917
27Vascular tortuosity (HP:0004948)3.34078397
28Spinal rigidity (HP:0003306)3.33390597
29Biconcave vertebral bodies (HP:0004586)3.24579655
30Hyperextensible skin (HP:0000974)3.19678550
31Slender build (HP:0001533)3.16024748
32Bowel diverticulosis (HP:0005222)3.13547380
33Spondylolisthesis (HP:0003302)3.04986523
34Overgrowth (HP:0001548)2.95654475
35Arterial tortuosity (HP:0005116)2.90410344
36Abnormal delivery (HP:0001787)2.89891229
37Infantile muscular hypotonia (HP:0008947)2.84383251
38Ectopia lentis (HP:0001083)2.82252629
39Increased variability in muscle fiber diameter (HP:0003557)2.81554575
40Joint laxity (HP:0001388)2.70313982
41Aneurysm (HP:0002617)2.67015629
42Broad ribs (HP:0000885)2.66428342
43Wide anterior fontanel (HP:0000260)2.64347232
44Abnormality of the acetabulum (HP:0003170)2.57370023
45Mildly elevated creatine phosphokinase (HP:0008180)2.55133397
46Elbow flexion contracture (HP:0002987)2.53854581
47Aortic valve stenosis (HP:0001650)2.53529803
48Thin bony cortex (HP:0002753)2.51942370
49Striae distensae (HP:0001065)2.51697460
50Osteolytic defects of the hand bones (HP:0009699)2.48163432
51Osteolytic defects of the phalanges of the hand (HP:0009771)2.48163432
52Abnormality of skeletal muscle fiber size (HP:0012084)2.41767190
53Osteoarthritis (HP:0002758)2.32222531
54Aortic regurgitation (HP:0001659)2.29157009
55Camptodactyly of toe (HP:0001836)2.28873833
56Bell-shaped thorax (HP:0001591)2.28612719
57Round ear (HP:0100830)2.25960982
58Mitral regurgitation (HP:0001653)2.25893056
59Abnormality of the peritoneum (HP:0002585)2.23633641
60Breech presentation (HP:0001623)2.22799052
61Deviation of the hallux (HP:0010051)2.21865919
62Nonimmune hydrops fetalis (HP:0001790)2.16464032
63Venous insufficiency (HP:0005293)2.16145697
64Venous abnormality (HP:0002624)2.16083633
65Short 4th metacarpal (HP:0010044)2.13027742
66Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.13027742
67Delayed closure of the anterior fontanelle (HP:0001476)2.12392754
68Mesomelia (HP:0003027)2.12247020
69Redundant skin (HP:0001582)2.11679333
70Hallux valgus (HP:0001822)2.10733436
71Disproportionate tall stature (HP:0001519)2.09885290
72Hypoplasia of the iris (HP:0007676)2.05445165
73Tibial bowing (HP:0002982)2.04562911
74Long toe (HP:0010511)2.04209161
75Ulnar bowing (HP:0003031)2.03306785
76Pulmonary artery stenosis (HP:0004415)2.03181354
77Limited hip movement (HP:0008800)2.00274170
78Turricephaly (HP:0000262)2.00121168
79Joint stiffness (HP:0001387)1.99011227
80Ovoid vertebral bodies (HP:0003300)1.98223468
81Muscle fiber splitting (HP:0003555)1.96122561
82Absent frontal sinuses (HP:0002688)1.95681322
83Mitral stenosis (HP:0001718)1.93606138
84Abnormality of the 4th metacarpal (HP:0010012)1.93377131
85Buphthalmos (HP:0000557)1.91695880
86Inguinal hernia (HP:0000023)1.90297969
87Flat cornea (HP:0007720)1.89382785
88Broad long bones (HP:0005622)1.89374992
89Femoral bowing (HP:0002980)1.88465722
90Syringomyelia (HP:0003396)1.87857621
91Spinal cord lesions (HP:0100561)1.87857621
92Abnormality of the anterior chamber (HP:0000593)1.87773940
93Mild short stature (HP:0003502)1.86358314
94Congenital glaucoma (HP:0001087)1.83918530
95Protruding ear (HP:0000411)1.82641315
96Joint contractures involving the joints of the feet (HP:0100492)1.81320475
97Flexion contracture of toe (HP:0005830)1.81320475
98Decreased skull ossification (HP:0004331)1.81060984
99Arachnodactyly (HP:0001166)1.81047949
100Morphological abnormality of the middle ear (HP:0008609)1.80817112
101Thin skin (HP:0000963)1.80744555
102Osteopenia (HP:0000938)1.80250480
103Persistence of primary teeth (HP:0006335)1.80224694
104Knee flexion contracture (HP:0006380)1.79698114
105Delayed cranial suture closure (HP:0000270)1.78671929
106Generalized amyotrophy (HP:0003700)1.78627569
107Coronal craniosynostosis (HP:0004440)1.77683331
108Abnormality of skull ossification (HP:0002703)1.77157704
109Tarsal synostosis (HP:0008368)1.75920178
110Hip contracture (HP:0003273)1.75860799
111Thoracolumbar scoliosis (HP:0002944)1.74679046
112Ulnar deviation of the wrist (HP:0003049)1.74045062
113Natal tooth (HP:0000695)1.73774799
114Hypoventilation (HP:0002791)1.72643482
115Emphysema (HP:0002097)1.71858122
116Coxa vara (HP:0002812)1.71180284
117Gingival overgrowth (HP:0000212)1.70450929
118Premature skin wrinkling (HP:0100678)1.69823815
119Keratoconus (HP:0000563)1.69702654
120Increased corneal curvature (HP:0100692)1.69702654

Predicted kinase interactions (KEA)

RankGene SetZ-score
1DDR25.14285215
2TTN4.11810877
3PDGFRA4.03395646
4TRIB33.99839970
5SIK13.22084833
6AKT33.17359103
7LATS13.02189371
8LATS22.78524060
9ERN12.69984089
10TGFBR22.60297304
11RIPK12.51770278
12EPHA32.36063726
13CAMK1D2.17978727
14EPHB22.09285643
15PKN22.08432603
16MYLK1.95707641
17DMPK1.84463984
18KDR1.80760816
19GRK51.73788101
20CAMK1G1.68686772
21TRPM71.64234564
22PIK3CA1.59833894
23FER1.57228347
24FGFR21.55415422
25PAK21.49609035
26FRK1.49533503
27PDGFRB1.45313168
28BMX1.41540350
29JAK11.40295432
30STK31.33852640
31NEK91.23284736
32PTK21.23061094
33GRK71.21200830
34EPHB11.19994961
35MAP3K61.17483576
36MAPK71.17243138
37KIT1.16746682
38PTK61.14679764
39PTK2B1.12434976
40FGFR11.10875186
41TESK11.09479786
42FGFR31.08421528
43GRK11.07134382
44PRKCH1.06005723
45ROCK11.05006612
46PAK31.04712568
47LMTK21.01256186
48ERBB40.99542176
49MTOR0.98789367
50MET0.97296367
51PAK40.92680446
52STK38L0.90560241
53ADRBK20.86157097
54MARK20.83623399
55TIE10.81945394
56PDK20.81029020
57FGFR40.78828608
58PIK3CG0.74949377
59NUAK10.74907906
60WNK10.73642461
61PRKD10.71359250
62PRKD20.68822350
63NLK0.67561662
64ILK0.67419073
65FLT30.66456431
66TYK20.66309424
67PDK40.64393181
68PDK30.64393181
69JAK30.63436456
70LRRK20.63262814
71INSR0.62352024
72DAPK20.61442699
73MAPK40.60568508
74MAP2K10.60461148
75NTRK10.60257446
76LIMK10.58328745
77PRKD30.57668801
78ZAK0.56841384
79ABL20.56815461
80ROCK20.55440541
81PRKAA20.55184209
82MELK0.54839599
83MST1R0.54118869
84OBSCN0.53917072
85PDPK10.53489458
86RPS6KA40.52219054
87CDC42BPA0.51954142
88PLK20.51513443
89RET0.50814706
90MAPKAPK30.50630985
91SRC0.48829646
92CDK60.48777815
93CAMK10.47802001
94PRKCE0.46357753
95INSRR0.46040586
96CAMK2G0.45471372
97STK380.43180601
98EIF2AK20.42601123
99ADRBK10.39812262
100MAP3K30.39096133
101EEF2K0.37346428
102MAP3K70.36979663
103IGF1R0.35310727
104TGFBR10.33576128
105GSK3A0.33543759
106DAPK30.33353416
107MAPK120.32209489
108CAMKK20.32010279
109PKN10.31994353
110MAPK10.31848714
111PRKG20.30105031
112CAMK40.29437238
113ABL10.29308118
114CLK10.28688185
115RPS6KL10.27173842
116RPS6KC10.27173842
117CSF1R0.26837840
118PIM20.26435019
119RPS6KA20.25552383
120MOS0.25027019
121PRKG10.24641336
122ERBB30.24311754
123PAK60.24179039
124CAMKK10.23566559
125RPS6KA60.23468803
126CHUK0.22662461
127MAP2K30.21834318
128ICK0.21105719

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045125.08894368
2Focal adhesion_Homo sapiens_hsa045103.25958553
3Protein digestion and absorption_Homo sapiens_hsa049743.22870590
4Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.55920046
5Malaria_Homo sapiens_hsa051442.53908099
6AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049332.39165944
7Amoebiasis_Homo sapiens_hsa051462.35583086
8Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.20444257
9Dilated cardiomyopathy_Homo sapiens_hsa054142.16684019
10Proteoglycans in cancer_Homo sapiens_hsa052052.09600879
11Regulation of lipolysis in adipocytes_Homo sapiens_hsa049232.00112371
12Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.99424482
13Adherens junction_Homo sapiens_hsa045201.81465073
14PI3K-Akt signaling pathway_Homo sapiens_hsa041511.77294054
15Small cell lung cancer_Homo sapiens_hsa052221.75661763
16TGF-beta signaling pathway_Homo sapiens_hsa043501.75426388
17Steroid hormone biosynthesis_Homo sapiens_hsa001401.61640004
18Basal cell carcinoma_Homo sapiens_hsa052171.61500379
19Glycosaminoglycan degradation_Homo sapiens_hsa005311.48970328
20Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.46671491
21Melanoma_Homo sapiens_hsa052181.46214936
22Bladder cancer_Homo sapiens_hsa052191.33042649
23MicroRNAs in cancer_Homo sapiens_hsa052061.31683135
24PPAR signaling pathway_Homo sapiens_hsa033201.28936214
25Hippo signaling pathway_Homo sapiens_hsa043901.28674442
26Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.28538112
27Hedgehog signaling pathway_Homo sapiens_hsa043401.20365607
28Aldosterone synthesis and secretion_Homo sapiens_hsa049251.20071870
29Chronic myeloid leukemia_Homo sapiens_hsa052201.19535037
30Regulation of actin cytoskeleton_Homo sapiens_hsa048101.18681297
31Viral myocarditis_Homo sapiens_hsa054161.16743885
32Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.09729817
33Pathways in cancer_Homo sapiens_hsa052001.08179485
34Platelet activation_Homo sapiens_hsa046111.07604833
35Adipocytokine signaling pathway_Homo sapiens_hsa049201.07016307
36Leukocyte transendothelial migration_Homo sapiens_hsa046700.99414039
37Toxoplasmosis_Homo sapiens_hsa051450.98484823
38Insulin resistance_Homo sapiens_hsa049310.98301685
39Prostate cancer_Homo sapiens_hsa052150.97309819
40Pancreatic cancer_Homo sapiens_hsa052120.94707606
41Rap1 signaling pathway_Homo sapiens_hsa040150.94514529
42Phagosome_Homo sapiens_hsa041450.93979587
43TNF signaling pathway_Homo sapiens_hsa046680.93309049
44Glioma_Homo sapiens_hsa052140.91844766
45Caffeine metabolism_Homo sapiens_hsa002320.89979267
46AMPK signaling pathway_Homo sapiens_hsa041520.88246093
47Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.88187492
48Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.85835463
49Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.84576109
50Wnt signaling pathway_Homo sapiens_hsa043100.84389412
51Fatty acid biosynthesis_Homo sapiens_hsa000610.84379473
52Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.84061891
53Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.83779944
54Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.82331535
55Lysosome_Homo sapiens_hsa041420.81707633
56Central carbon metabolism in cancer_Homo sapiens_hsa052300.81496339
57Vascular smooth muscle contraction_Homo sapiens_hsa042700.79722930
58Longevity regulating pathway - mammal_Homo sapiens_hsa042110.78150520
59Prion diseases_Homo sapiens_hsa050200.77951781
60Fatty acid metabolism_Homo sapiens_hsa012120.77174730
61HIF-1 signaling pathway_Homo sapiens_hsa040660.75530703
62Ovarian steroidogenesis_Homo sapiens_hsa049130.72162353
63Axon guidance_Homo sapiens_hsa043600.71390246
64Mineral absorption_Homo sapiens_hsa049780.69513503
65HTLV-I infection_Homo sapiens_hsa051660.68054448
66cGMP-PKG signaling pathway_Homo sapiens_hsa040220.67963421
67Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.66481785
68Melanogenesis_Homo sapiens_hsa049160.66303151
69Calcium signaling pathway_Homo sapiens_hsa040200.64949750
70Lysine degradation_Homo sapiens_hsa003100.64683676
71Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.63483765
72N-Glycan biosynthesis_Homo sapiens_hsa005100.63142572
73Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.62758220
74Renin-angiotensin system_Homo sapiens_hsa046140.62522037
75Tight junction_Homo sapiens_hsa045300.62053523
76Insulin signaling pathway_Homo sapiens_hsa049100.62041707
77Osteoclast differentiation_Homo sapiens_hsa043800.61415303
78ABC transporters_Homo sapiens_hsa020100.61376143
79Dorso-ventral axis formation_Homo sapiens_hsa043200.59426394
80Propanoate metabolism_Homo sapiens_hsa006400.59411433
81Thyroid hormone synthesis_Homo sapiens_hsa049180.58732054
82Ras signaling pathway_Homo sapiens_hsa040140.58478131
83Choline metabolism in cancer_Homo sapiens_hsa052310.58307767
84Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.57941950
85FoxO signaling pathway_Homo sapiens_hsa040680.57617708
86mTOR signaling pathway_Homo sapiens_hsa041500.57590142
87Tyrosine metabolism_Homo sapiens_hsa003500.57340522
88Fatty acid degradation_Homo sapiens_hsa000710.55773984
89MAPK signaling pathway_Homo sapiens_hsa040100.55739727
90Prolactin signaling pathway_Homo sapiens_hsa049170.55618288
91Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.54285910
92Endocytosis_Homo sapiens_hsa041440.54134568
93Pertussis_Homo sapiens_hsa051330.52690651
94Sphingolipid metabolism_Homo sapiens_hsa006000.52534348
95Estrogen signaling pathway_Homo sapiens_hsa049150.51802909
96Phospholipase D signaling pathway_Homo sapiens_hsa040720.51362899
97cAMP signaling pathway_Homo sapiens_hsa040240.49431507
98Oxytocin signaling pathway_Homo sapiens_hsa049210.49414672
99Other glycan degradation_Homo sapiens_hsa005110.47805181
100Renal cell carcinoma_Homo sapiens_hsa052110.47618942
101p53 signaling pathway_Homo sapiens_hsa041150.47205247
102Salivary secretion_Homo sapiens_hsa049700.46935181
103Histidine metabolism_Homo sapiens_hsa003400.46797899
104Salmonella infection_Homo sapiens_hsa051320.45541819
105Thyroid hormone signaling pathway_Homo sapiens_hsa049190.45500104
106Neurotrophin signaling pathway_Homo sapiens_hsa047220.45490155
107Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.45290108
108Hepatitis B_Homo sapiens_hsa051610.45021718
109Sphingolipid signaling pathway_Homo sapiens_hsa040710.44704209
110Gap junction_Homo sapiens_hsa045400.44514571
111Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.44361082
112Inositol phosphate metabolism_Homo sapiens_hsa005620.43838532
113Apoptosis_Homo sapiens_hsa042100.43099821
114Complement and coagulation cascades_Homo sapiens_hsa046100.43005080
115Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.42900315
116Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.42454379
117Tuberculosis_Homo sapiens_hsa051520.42311675
118Colorectal cancer_Homo sapiens_hsa052100.42123261
119GnRH signaling pathway_Homo sapiens_hsa049120.42061337
120Rheumatoid arthritis_Homo sapiens_hsa053230.41578631
121Shigellosis_Homo sapiens_hsa051310.41422517
122Glucagon signaling pathway_Homo sapiens_hsa049220.41418936
123Notch signaling pathway_Homo sapiens_hsa043300.40986886
124Cocaine addiction_Homo sapiens_hsa050300.40436851
125Leishmaniasis_Homo sapiens_hsa051400.39840690
126Renin secretion_Homo sapiens_hsa049240.37351670
127Endometrial cancer_Homo sapiens_hsa052130.36521191
128Jak-STAT signaling pathway_Homo sapiens_hsa046300.35220142

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