FBLN5

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 secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. It is prominently expressed in developing arteries but less so in adult vessels. However, its expression is reinduced in balloon-injured vessels and atherosclerotic lesions, notably in intimal vascular smooth muscle cells and endothelial cells. Therefore, the protein encoded by this gene may play a role in vascular development and remodeling. Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I), and age-related macular degeneration type 3 (ARMD3). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1collagen fibril organization (GO:0030199)6.32241953
2protein heterotrimerization (GO:0070208)6.17449871
3chondrocyte proliferation (GO:0035988)6.07856376
4sequestering of extracellular ligand from receptor (GO:0035581)5.60419873
5type B pancreatic cell proliferation (GO:0044342)5.31518084
6neuron projection extension involved in neuron projection guidance (GO:1902284)4.99201559
7axon extension involved in axon guidance (GO:0048846)4.99201559
8endodermal cell differentiation (GO:0035987)4.83124801
9cell adhesion mediated by integrin (GO:0033627)4.67032083
10bone trabecula formation (GO:0060346)4.53485130
11regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)4.39167242
12skin morphogenesis (GO:0043589)4.37541785
13dermatan sulfate biosynthetic process (GO:0030208)4.33969747
14positive regulation of endothelial cell apoptotic process (GO:2000353)4.19068300
15adhesion of symbiont to host (GO:0044406)4.15778674
16wound healing, spreading of epidermal cells (GO:0035313)4.12565613
17metanephric mesenchyme development (GO:0072075)4.08664917
18retina vasculature morphogenesis in camera-type eye (GO:0061299)4.07619227
19collagen metabolic process (GO:0032963)4.03052059
20dermatan sulfate metabolic process (GO:0030205)4.02854024
21mesenchymal-epithelial cell signaling (GO:0060638)4.01330238
22negative regulation of smooth muscle cell migration (GO:0014912)4.00155819
23tooth mineralization (GO:0034505)3.93317838
24kidney mesenchyme development (GO:0072074)3.92941522
25smooth muscle tissue development (GO:0048745)3.91691372
26collagen catabolic process (GO:0030574)3.90328925
27negative regulation of fatty acid transport (GO:2000192)3.86519941
28basement membrane organization (GO:0071711)3.84467747
29extracellular fibril organization (GO:0043206)3.80189784
30multicellular organismal macromolecule metabolic process (GO:0044259)3.79162715
31induction of positive chemotaxis (GO:0050930)3.78491326
32plasma membrane repair (GO:0001778)3.67720330
33barbed-end actin filament capping (GO:0051016)3.63173157
34endothelial cell morphogenesis (GO:0001886)3.61929685
35vascular endothelial growth factor signaling pathway (GO:0038084)3.61586517
36multicellular organismal metabolic process (GO:0044236)3.61361423
37positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr3.59948300
38multicellular organismal catabolic process (GO:0044243)3.59227755
39regulation of plasminogen activation (GO:0010755)3.58710369
40cell migration involved in heart development (GO:0060973)3.57539802
41negative regulation of chondrocyte differentiation (GO:0032331)3.53442322
42extracellular matrix disassembly (GO:0022617)3.52799976
43peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)3.51113267
44regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.50323898
45fibril organization (GO:0097435)3.49969080
46wound healing, spreading of cells (GO:0044319)3.46761530
47keratan sulfate catabolic process (GO:0042340)3.43809632
48blood vessel maturation (GO:0001955)3.40746432
49regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition 3.38722679
50lymphangiogenesis (GO:0001946)3.33721334
51venous blood vessel morphogenesis (GO:0048845)3.29620784
52positive regulation of extracellular matrix organization (GO:1903055)3.29414725
53apoptotic cell clearance (GO:0043277)3.29398715
54regulation of tight junction assembly (GO:2000810)3.27243120
55epithelial cell-cell adhesion (GO:0090136)3.25398495
56glomerular basement membrane development (GO:0032836)3.25291558
57substrate-dependent cell migration (GO:0006929)3.24357477
58craniofacial suture morphogenesis (GO:0097094)3.23664976
59peptidyl-proline hydroxylation (GO:0019511)3.20449728
60* protein localization to cell surface (GO:0034394)3.20009526
61regulation of branching involved in salivary gland morphogenesis (GO:0060693)3.19745415
62substrate adhesion-dependent cell spreading (GO:0034446)3.19382455
63endothelial cell proliferation (GO:0001935)3.18418800
64epoxygenase P450 pathway (GO:0019373)3.16765690
65* extracellular matrix organization (GO:0030198)3.14379995
66endocardial cushion development (GO:0003197)3.13646122
67* extracellular structure organization (GO:0043062)3.12974711
68extracellular negative regulation of signal transduction (GO:1900116)3.12030019
69extracellular regulation of signal transduction (GO:1900115)3.12030019
70cartilage development involved in endochondral bone morphogenesis (GO:0060351)3.10563077
71response to fluid shear stress (GO:0034405)3.06711286
72negative regulation of BMP signaling pathway (GO:0030514)3.04821514
73cell proliferation involved in kidney development (GO:0072111)3.04116772
74regulation of extracellular matrix disassembly (GO:0010715)3.04028641
75protein retention in ER lumen (GO:0006621)3.04003096
76cellular response to amino acid stimulus (GO:0071230)3.03459575
77gonadal mesoderm development (GO:0007506)3.02156238
78positive regulation of blood vessel endothelial cell migration (GO:0043536)3.01724059
79maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.01688445
80positive regulation of epithelial to mesenchymal transition (GO:0010718)3.01177839
81lymph vessel development (GO:0001945)3.00735482
82stress fiber assembly (GO:0043149)2.98921826
83adhesion of symbiont to host cell (GO:0044650)2.98881745
84virion attachment to host cell (GO:0019062)2.98881745
85middle ear morphogenesis (GO:0042474)2.97894430
86mesodermal cell differentiation (GO:0048333)2.94795139
87planar cell polarity pathway involved in neural tube closure (GO:0090179)2.94177644
88positive regulation of fibroblast migration (GO:0010763)2.94016531
89vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.92967624
90negative regulation of catenin import into nucleus (GO:0035414)2.92582169
91cell proliferation involved in metanephros development (GO:0072203)2.92560764
92negative regulation of cartilage development (GO:0061037)2.92262422
93hippo signaling (GO:0035329)2.90641267
94cellular response to vascular endothelial growth factor stimulus (GO:0035924)2.90633686
95* extracellular matrix assembly (GO:0085029)2.89693342
96negative regulation of leukocyte chemotaxis (GO:0002689)2.88864705
97protein targeting to plasma membrane (GO:0072661)2.88041987
98regulation of integrin-mediated signaling pathway (GO:2001044)2.87798470
99negative regulation of nitric-oxide synthase activity (GO:0051001)2.87224509
100cell migration involved in sprouting angiogenesis (GO:0002042)2.86541644
101notochord development (GO:0030903)2.83572921
102negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)2.83399647
103positive regulation of osteoblast proliferation (GO:0033690)2.82156034
104omega-hydroxylase P450 pathway (GO:0097267)2.81483569
105atrioventricular valve morphogenesis (GO:0003181)2.80831557
106cellular response to vitamin (GO:0071295)2.79892981
107pericardium development (GO:0060039)2.78977683
108positive regulation of collagen biosynthetic process (GO:0032967)2.76230965
109chondrocyte development (GO:0002063)2.75097720
110trabecula formation (GO:0060343)2.74478382
111insulin-like growth factor receptor signaling pathway (GO:0048009)2.73600026
112hyaluronan catabolic process (GO:0030214)2.73033515
113regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.72422685
114blood vessel remodeling (GO:0001974)2.71379314
115negative regulation of axon extension involved in axon guidance (GO:0048843)2.69826275
116glomerular filtration (GO:0003094)2.69508792
117regulation of collagen metabolic process (GO:0010712)2.69364802
118response to laminar fluid shear stress (GO:0034616)2.66731463
119Notch signaling involved in heart development (GO:0061314)2.65948874
120outer ear morphogenesis (GO:0042473)2.65809885
121negative regulation of embryonic development (GO:0045992)2.64732049
122positive regulation of receptor recycling (GO:0001921)2.64456263
123regulation of smooth muscle cell migration (GO:0014910)2.60930595
124face morphogenesis (GO:0060325)2.57962637
125embryonic cranial skeleton morphogenesis (GO:0048701)2.55247806
126artery morphogenesis (GO:0048844)2.54991996
127chondroitin sulfate catabolic process (GO:0030207)2.54684303
128regulation of axon extension involved in axon guidance (GO:0048841)2.53083724
129heparan sulfate proteoglycan biosynthetic process (GO:0015012)2.53042488
130positive regulation of cartilage development (GO:0061036)2.51087957
131cell-substrate junction assembly (GO:0007044)2.49448699
132COPI coating of Golgi vesicle (GO:0048205)2.48408931
133Golgi transport vesicle coating (GO:0048200)2.48408931

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human6.81080276
2TP63_17297297_ChIP-ChIP_HaCaT_Human5.59712990
3RARG_19884340_ChIP-ChIP_MEFs_Mouse4.88949658
4* PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse3.34625845
5CLOCK_20551151_ChIP-Seq_293T_Human3.23031153
6* CJUN_26792858_Chip-Seq_BT549_Human2.76831024
7TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.76167627
8RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.74296010
9ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.73730756
10* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.72010164
11SMAD_19615063_ChIP-ChIP_OVARY_Human2.69232681
12* CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.51920821
13* CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse2.46241918
14ESR1_21235772_ChIP-Seq_MCF-7_Human2.36657053
15NRF2_20460467_ChIP-Seq_MEFs_Mouse2.20712661
16NFE2L2_20460467_ChIP-Seq_MEFs_Mouse2.20712661
17NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.14080437
18EP300_21415370_ChIP-Seq_HL-1_Mouse2.13731155
19SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.07181855
20BRD4_25478319_ChIP-Seq_HGPS_Human2.01813174
21WT1_19549856_ChIP-ChIP_CCG9911_Human1.98788836
22THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.93451039
23EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.90581663
24WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.90128747
25NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.89574043
26PPAR_26484153_Chip-Seq_NCI-H1993_Human1.86763130
27GATA2_21666600_ChIP-Seq_HMVEC_Human1.79734572
28ESR2_21235772_ChIP-Seq_MCF-7_Human1.77129659
29TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.76684569
30HIF1A_21447827_ChIP-Seq_MCF-7_Human1.75026533
31CDX2_19796622_ChIP-Seq_MESCs_Mouse1.73080640
32ELK3_25401928_ChIP-Seq_HUVEC_Human1.65110778
33TP53_18474530_ChIP-ChIP_U2OS_Human1.64180435
34EED_16625203_ChIP-ChIP_MESCs_Mouse1.60401961
35JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.54556405
36* SMC1_22415368_ChIP-Seq_MEFs_Mouse1.52934946
37SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.52154204
38SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.52154204
39CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.50625055
40SOX2_20726797_ChIP-Seq_SW620_Human1.49040732
41SALL4_18804426_ChIP-ChIP_XEN_Mouse1.48790280
42PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.48559534
43JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.46618545
44SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.44609961
45RNF2_18974828_ChIP-Seq_MESCs_Mouse1.44592098
46EZH2_18974828_ChIP-Seq_MESCs_Mouse1.44592098
47TP53_20018659_ChIP-ChIP_R1E_Mouse1.40082144
48ZNF217_24962896_ChIP-Seq_MCF-7_Human1.39540540
49SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.38577827
50* NFIB_24661679_ChIP-Seq_LUNG_Mouse1.38227406
51TP53_16413492_ChIP-PET_HCT116_Human1.36870788
52ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.36572242
53CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.34356458
54SOX9_24532713_ChIP-Seq_HFSC_Mouse1.33715821
55TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.32510514
56RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.31576996
57* SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.31137936
58TBX20_22328084_ChIP-Seq_HEART_Mouse1.29707559
59TBX20_22080862_ChIP-Seq_HEART_Mouse1.29707559
60EZH2_27304074_Chip-Seq_ESCs_Mouse1.29008153
61UBF1/2_26484160_Chip-Seq_HMECs_Human1.27662472
62EGR1_19374776_ChIP-ChIP_THP-1_Human1.26319051
63FOXO3_23340844_ChIP-Seq_DLD1_Human1.24773513
64RNF2_27304074_Chip-Seq_ESCs_Mouse1.24771562
65P300_27058665_Chip-Seq_ZR-75-30cells_Human1.24609234
66SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.21711373
67* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.20852459
68PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.16964384
69SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.16825844
70RBPJ_22232070_ChIP-Seq_NCS_Mouse1.16614071
71* TP53_23651856_ChIP-Seq_MEFs_Mouse1.15684101
72RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.12892181
73* SA1_22415368_ChIP-Seq_MEFs_Mouse1.12850258
74SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.12483142
75SMC3_22415368_ChIP-Seq_MEFs_Mouse1.12060545
76MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.10884140
77* TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.08050121
78FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.07325294
79PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.06676711
80JARID2_20064375_ChIP-Seq_MESCs_Mouse1.05892759
81MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.04809759
82ATF3_27146783_Chip-Seq_COLON_Human1.04753445
83TP53_22127205_ChIP-Seq_IMR90_Human1.03632549
84TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.03621116
85RAD21_21589869_ChIP-Seq_MESCs_Mouse1.03524610
86WT1_25993318_ChIP-Seq_PODOCYTE_Human1.01836381
87BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.01106592
88UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.00828046
89LXR_22292898_ChIP-Seq_THP-1_Human0.98999936
90ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.97467907
91P63_26484246_Chip-Seq_KERATINOCYTES_Human0.97359003
92JARID2_20075857_ChIP-Seq_MESCs_Mouse0.97338663
93PIAS1_25552417_ChIP-Seq_VCAP_Human0.97220423
94SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.97217679
95TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.96024133
96* EZH2_27294783_Chip-Seq_ESCs_Mouse0.95226827
97PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.94901587
98RING1B_27294783_Chip-Seq_ESCs_Mouse0.94688534
99ISL1_27105846_Chip-Seq_CPCs_Mouse0.94170212
100NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.94005892
101KDM2B_26808549_Chip-Seq_SUP-B15_Human0.93075888
102AR_21572438_ChIP-Seq_LNCaP_Human0.93047193
103* MTF2_20144788_ChIP-Seq_MESCs_Mouse0.92226176
104TET1_21490601_ChIP-Seq_MESCs_Mouse0.91684528
105KDM2B_26808549_Chip-Seq_K562_Human0.91337887
106ZFP281_18757296_ChIP-ChIP_E14_Mouse0.91039921
107DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.90947888
108SUZ12_27294783_Chip-Seq_ESCs_Mouse0.90169880
109KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.89582325
110TP63_23658742_ChIP-Seq_EP156T_Human0.88958595
111NFI_21473784_ChIP-Seq_ESCs_Mouse0.88833668
112PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.88712828
113ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.88613369
114RACK7_27058665_Chip-Seq_MCF-7_Human0.88318837
115NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.88267329
116HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.85245125
117STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.85023688
118RXR_22108803_ChIP-Seq_LS180_Human0.84429514
119* FOXP3_17237761_ChIP-ChIP_TREG_Mouse0.83477660
120PPARD_21283829_ChIP-Seq_MYOFIBROBLAST_Human0.83208744
121FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.82598265
122AHR_22903824_ChIP-Seq_MCF-7_Human0.82469690
123ESR1_17901129_ChIP-ChIP_LIVER_Mouse0.81620101

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen8.34611501
2MP0005503_abnormal_tendon_morphology5.46125130
3MP0005275_abnormal_skin_tensile5.17582638
4MP0003279_aneurysm4.54158412
5MP0003705_abnormal_hypodermis_morpholog4.47940924
6* MP0001958_emphysema3.52573024
7MP0004272_abnormal_basement_membrane3.25225909
8MP0006054_spinal_hemorrhage3.21016657
9MP0009384_cardiac_valve_regurgitation3.01259576
10MP0005623_abnormal_meninges_morphology2.57182744
11MP0010368_abnormal_lymphatic_system2.50979222
12MP0005257_abnormal_intraocular_pressure2.35657317
13MP0001879_abnormal_lymphatic_vessel2.29137080
14MP0005508_abnormal_skeleton_morphology2.13316193
15MP0003566_abnormal_cell_adhesion2.06836119
16* MP0002295_abnormal_pulmonary_circulatio2.00202654
17MP0002060_abnormal_skin_morphology1.86263441
18MP0003091_abnormal_cell_migration1.85486073
19MP0000767_abnormal_smooth_muscle1.81818774
20MP0005023_abnormal_wound_healing1.80952064
21MP0001542_abnormal_bone_strength1.74007589
22MP0009780_abnormal_chondrocyte_physiolo1.71284216
23MP0002108_abnormal_muscle_morphology1.69145512
24MP0005171_absent_coat_pigmentation1.63111318
25MP0003385_abnormal_body_wall1.61299466
26MP0000013_abnormal_adipose_tissue1.55485688
27MP0003045_fibrosis1.54128219
28MP0010030_abnormal_orbit_morphology1.50389374
29MP0009250_abnormal_appendicular_skeleto1.45983973
30MP0004858_abnormal_nervous_system1.40533967
31MP0010352_gastrointestinal_tract_polyps1.33307567
32MP0002168_other_aberrant_phenotype1.29276519
33MP0001243_abnormal_dermal_layer1.26869215
34MP0002896_abnormal_bone_mineralization1.24874153
35MP0005390_skeleton_phenotype1.22378972
36MP0000733_abnormal_muscle_development1.22010504
37MP0004134_abnormal_chest_morphology1.20516354
38MP0000534_abnormal_ureter_morphology1.20325968
39MP0003724_increased_susceptibility_to1.17353000
40MP0002282_abnormal_trachea_morphology1.14752519
41MP0002877_abnormal_melanocyte_morpholog1.13667736
42* MP0005595_abnormal_vascular_smooth1.11475139
43MP0001299_abnormal_eye_distance/1.09579821
44MP0003942_abnormal_urinary_system1.05968053
45MP0000163_abnormal_cartilage_morphology1.05879134
46MP0002933_joint_inflammation1.04802061
47MP0003283_abnormal_digestive_organ1.04148590
48MP0002128_abnormal_blood_circulation1.03703635
49MP0002115_abnormal_skeleton_extremities1.01953576
50MP0010386_abnormal_urinary_bladder0.98164914
51* MP0004883_abnormal_blood_vessel0.97381241
52MP0002837_dystrophic_cardiac_calcinosis0.95350803
53* MP0005164_abnormal_response_to0.93571431
54MP0002932_abnormal_joint_morphology0.93001125
55* MP0001614_abnormal_blood_vessel0.90206897
56MP0006138_congestive_heart_failure0.89969929
57MP0003115_abnormal_respiratory_system0.89588125
58MP0001915_intracranial_hemorrhage0.87299471
59* MP0005388_respiratory_system_phenotype0.86555583
60* MP0002133_abnormal_respiratory_system0.86555583
61MP0005197_abnormal_uvea_morphology0.84793041
62MP0002113_abnormal_skeleton_development0.83860132
63MP0003828_pulmonary_edema0.83494073
64MP0001177_atelectasis0.83368241
65MP0009053_abnormal_anal_canal0.82987766
66MP0002998_abnormal_bone_remodeling0.81128915
67MP0001533_abnormal_skeleton_physiology0.80962595
68MP0000749_muscle_degeneration0.77722190
69MP0003941_abnormal_skin_development0.76774440
70MP0002254_reproductive_system_inflammat0.76642169
71MP0000003_abnormal_adipose_tissue0.76435779
72MP0003300_gastrointestinal_ulcer0.75855028
73MP0003252_abnormal_bile_duct0.75270215
74MP0003755_abnormal_palate_morphology0.74724271
75* MP0002925_abnormal_cardiovascular_devel0.74663818
76MP0000516_abnormal_urinary_system0.73390220
77MP0005367_renal/urinary_system_phenotyp0.73390220
78MP0001348_abnormal_lacrimal_gland0.73105586
79MP0000049_abnormal_middle_ear0.72058662
80MP0000751_myopathy0.70739779
81MP0009840_abnormal_foam_cell0.69887655
82MP0005058_abnormal_lysosome_morphology0.69442492
83* MP0001175_abnormal_lung_morphology0.69439247
84MP0005076_abnormal_cell_differentiation0.69402341
85MP0003795_abnormal_bone_structure0.67685056
86MP0005369_muscle_phenotype0.67625854
87MP0000750_abnormal_muscle_regeneration0.66759332
88MP0000343_altered_response_to0.66334394
89MP0000462_abnormal_digestive_system0.66118692
90MP0002089_abnormal_postnatal_growth/wei0.65822317
91MP0004084_abnormal_cardiac_muscle0.65519419
92MP0003935_abnormal_craniofacial_develop0.64736212
93* MP0000428_abnormal_craniofacial_morphol0.64689040
94MP0003950_abnormal_plasma_membrane0.63442085
95MP0002249_abnormal_larynx_morphology0.63422135
96* MP0000249_abnormal_blood_vessel0.62864234
97MP0008775_abnormal_heart_ventricle0.62659164
98MP0005670_abnormal_white_adipose0.61339741
99MP0000681_abnormal_thyroid_gland0.61111125
100MP0000762_abnormal_tongue_morphology0.61053167
101MP0000747_muscle_weakness0.60939917
102MP0005193_abnormal_anterior_eye0.60439813
103MP0005620_abnormal_muscle_contractility0.60328008
104MP0000538_abnormal_urinary_bladder0.60287580
105MP0001544_abnormal_cardiovascular_syste0.59095159
106MP0005385_cardiovascular_system_phenoty0.59095159
107* MP0000858_altered_metastatic_potential0.58385521
108MP0005330_cardiomyopathy0.58264646
109MP0000604_amyloidosis0.57831694
110MP0005165_increased_susceptibility_to0.56834848
111* MP0003448_altered_tumor_morphology0.56621050
112MP0003191_abnormal_cellular_cholesterol0.56496818
113MP0008004_abnormal_stomach_pH0.56483177
114MP0004087_abnormal_muscle_fiber0.56146178
115MP0001849_ear_inflammation0.55836440
116MP0002109_abnormal_limb_morphology0.55667138
117MP0000759_abnormal_skeletal_muscle0.55251026
118MP0002116_abnormal_craniofacial_bone0.55250187
119MP0002114_abnormal_axial_skeleton0.53777051
120* MP0000432_abnormal_head_morphology0.53036887
121MP0005220_abnormal_exocrine_pancreas0.53020402
122MP0002928_abnormal_bile_duct0.52869269
123MP0004036_abnormal_muscle_relaxation0.52793104

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)8.74684459
2Premature rupture of membranes (HP:0001788)8.22801480
3Aortic dissection (HP:0002647)5.33591201
4Shallow orbits (HP:0000586)4.97807591
5* Aortic aneurysm (HP:0004942)4.76081181
6Cerebral aneurysm (HP:0004944)4.73674888
7Broad metatarsal (HP:0001783)4.70406882
8Ankle contracture (HP:0006466)4.69879339
9Peritonitis (HP:0002586)4.64637572
10Soft skin (HP:0000977)4.51230982
11Atrophic scars (HP:0001075)4.43187639
12Cervical subluxation (HP:0003308)4.24903186
13Abnormality of dentin (HP:0010299)4.21321991
14* Dilatation of the ascending aorta (HP:0005111)4.11028761
15* Bladder diverticulum (HP:0000015)3.97526805
16Fragile skin (HP:0001030)3.76344565
17Spinal rigidity (HP:0003306)3.68027310
18Neonatal short-limb short stature (HP:0008921)3.63148702
19Vertebral compression fractures (HP:0002953)3.57832011
20Blue sclerae (HP:0000592)3.51652382
21Biconcave vertebral bodies (HP:0004586)3.50925618
22* Wormian bones (HP:0002645)3.49497524
23Genu recurvatum (HP:0002816)3.33336079
24Mitral valve prolapse (HP:0001634)3.33038565
25Follicular hyperkeratosis (HP:0007502)3.01786320
26Wrist flexion contracture (HP:0001239)2.99173540
27Abnormal delivery (HP:0001787)2.93479567
28Increased connective tissue (HP:0009025)2.90170972
29Mild short stature (HP:0003502)2.89312505
30Arterial tortuosity (HP:0005116)2.88310970
31* Vascular tortuosity (HP:0004948)2.88310970
32Overgrowth (HP:0001548)2.86716168
33Coronal craniosynostosis (HP:0004440)2.82871768
34Type 1 muscle fiber predominance (HP:0003803)2.80644375
35* Bowel diverticulosis (HP:0005222)2.74742003
36Thin bony cortex (HP:0002753)2.71309037
37Hyperextensible skin (HP:0000974)2.65150239
38Ectopia lentis (HP:0001083)2.61861390
39Spondylolisthesis (HP:0003302)2.56534527
40* Aneurysm (HP:0002617)2.55065406
41Hypoventilation (HP:0002791)2.54203787
42Short nail (HP:0001799)2.53506297
43Pulmonary artery stenosis (HP:0004415)2.52542004
44Abnormality of the anterior chamber (HP:0000593)2.49336609
45Elbow flexion contracture (HP:0002987)2.48770349
46Increased variability in muscle fiber diameter (HP:0003557)2.47536686
47Infantile muscular hypotonia (HP:0008947)2.45856843
48Abnormality of the acetabulum (HP:0003170)2.43842586
49Nonimmune hydrops fetalis (HP:0001790)2.42836418
50* Mitral regurgitation (HP:0001653)2.39807233
51Broad ribs (HP:0000885)2.35576342
52Osteolytic defects of the hand bones (HP:0009699)2.33775768
53Osteolytic defects of the phalanges of the hand (HP:0009771)2.33775768
54Wide anterior fontanel (HP:0000260)2.33763683
55Camptodactyly of toe (HP:0001836)2.32141403
56Knee flexion contracture (HP:0006380)2.24269851
57Ovoid vertebral bodies (HP:0003300)2.21281885
58Joint stiffness (HP:0001387)2.19901676
59Syringomyelia (HP:0003396)2.18504359
60Spinal cord lesions (HP:0100561)2.18504359
61* Joint laxity (HP:0001388)2.17170291
62Abnormality of skeletal muscle fiber size (HP:0012084)2.16943176
63Buphthalmos (HP:0000557)2.16777214
64Deviation of the hallux (HP:0010051)2.13329469
65Venous abnormality (HP:0002624)2.12429653
66Tibial bowing (HP:0002982)2.11928126
67Generalized amyotrophy (HP:0003700)2.09004635
68Breech presentation (HP:0001623)2.08507207
69Venous insufficiency (HP:0005293)2.07077567
70Mildly elevated creatine phosphokinase (HP:0008180)2.06688691
71Slender build (HP:0001533)2.06445097
72Hallux valgus (HP:0001822)2.05326843
73Scapular winging (HP:0003691)2.04127435
74Abnormality of skull ossification (HP:0002703)2.04105326
75Ulnar deviation of the wrist (HP:0003049)2.03950396
76Hypoplasia of the iris (HP:0007676)2.02563776
77Aortic regurgitation (HP:0001659)2.00993941
78Beaking of vertebral bodies (HP:0004568)1.99857914
79Absent frontal sinuses (HP:0002688)1.98620895
80Osteopenia (HP:0000938)1.96605827
81Abnormality of the peritoneum (HP:0002585)1.95638341
82Congenital glaucoma (HP:0001087)1.94326803
83Round ear (HP:0100830)1.93719606
84Delayed cranial suture closure (HP:0000270)1.92244313
85Limb-girdle muscle weakness (HP:0003325)1.92114484
86Coxa vara (HP:0002812)1.91987461
87Delayed closure of the anterior fontanelle (HP:0001476)1.91091990
88Femoral bowing (HP:0002980)1.90248492
89Morphological abnormality of the middle ear (HP:0008609)1.89637327
90Chondrocalcinosis (HP:0000934)1.89441507
91Distal upper limb amyotrophy (HP:0007149)1.88493197
92Upper limb amyotrophy (HP:0009129)1.88493197
93Protruding ear (HP:0000411)1.87784897
94* Inguinal hernia (HP:0000023)1.87619826
95Turricephaly (HP:0000262)1.85463157
96Ulnar bowing (HP:0003031)1.84388709
97Stridor (HP:0010307)1.83974658
98Long toe (HP:0010511)1.83916842
99Broad long bones (HP:0005622)1.83089155
100Osteoarthritis (HP:0002758)1.82847836
101Persistence of primary teeth (HP:0006335)1.81594166
102Limited hip movement (HP:0008800)1.80587874
103Striae distensae (HP:0001065)1.80197127
104Abnormality of the calcaneus (HP:0008364)1.79953357
105Asymmetry of the thorax (HP:0001555)1.79721862
106Short hallux (HP:0010109)1.79515078
107* Aortic valve stenosis (HP:0001650)1.77373444
108Spinal cord compression (HP:0002176)1.77301788
109Decreased skull ossification (HP:0004331)1.77096556
110Abnormality of Sharpey fibers (HP:0100685)1.76981828
111Thin skin (HP:0000963)1.76850951
112Disproportionate tall stature (HP:0001519)1.76729617
113Calcaneovalgus deformity (HP:0001848)1.76492059
114Tarsal synostosis (HP:0008368)1.76049541
115Mitral stenosis (HP:0001718)1.75627438
116Natal tooth (HP:0000695)1.75183348
117Platyspondyly (HP:0000926)1.74620813
118Joint contractures involving the joints of the feet (HP:0100492)1.74188833
119Flexion contracture of toe (HP:0005830)1.74188833
120Mesomelia (HP:0003027)1.73316731
121Hand muscle atrophy (HP:0009130)1.73236189
122Aplasia/Hypoplasia of the hallux (HP:0008362)1.72962887
123Deformed tarsal bones (HP:0008119)1.72302527
124Hip contracture (HP:0003273)1.71249901
125Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.71073300
126Achilles tendon contracture (HP:0001771)1.70764978
127Thoracolumbar scoliosis (HP:0002944)1.69919452

Predicted kinase interactions (KEA)

RankGene SetZ-score
1DDR24.67652699
2TTN3.86594999
3PDGFRA3.81428187
4TRIB33.64374069
5EPHA33.45743546
6TIE13.00144562
7EPHB22.80059042
8LATS22.74713190
9PKN22.36997808
10ERN12.30177577
11LATS12.20231037
12PAK22.11683780
13FER2.11253961
14MYLK1.99672454
15TGFBR21.93951013
16TRPM71.92586518
17PAK31.83944252
18RIPK11.79611250
19BMX1.65127035
20TESK11.64862895
21PTK61.58553133
22ERBB31.57284051
23PIM21.49302426
24MET1.49004779
25PTK21.48636963
26STK381.46307443
27PAK41.45722785
28LIMK11.44998708
29SIK11.40875233
30PTK2B1.39866013
31GRK71.38770244
32PDGFRB1.35221942
33MAP3K61.24680052
34DMPK1.23838417
35FRK1.23116946
36ROCK11.22636930
37KIT1.22621310
38STK38L1.18871693
39PIK3CA1.18357704
40LRRK21.12904410
41MAPK71.10580032
42PLK21.09030619
43GRK51.08979549
44RPS6KA21.04641864
45ZAK1.03749882
46RPS6KA41.03276357
47ILK1.03192935
48NTRK11.02298059
49NEK90.95749974
50TGFBR10.94699329
51EPHB10.91445472
52STK30.90766781
53MOS0.88600995
54MAP2K10.87102572
55RET0.85810887
56PRKCH0.85774476
57ABL20.80645324
58EEF2K0.75713324
59INSR0.73399560
60MTOR0.73359759
61PRKD10.73144759
62NUAK10.72581107
63MST1R0.72414893
64FGFR10.71853352
65KDR0.70665748
66PDK20.67951595
67TYK20.67197856
68MAP3K70.65753944
69FGFR20.65086286
70PIK3CG0.64725956
71MARK10.63305029
72GRK10.61688707
73RPS6KL10.60649335
74RPS6KC10.60649335
75CDC42BPA0.60545578
76ROCK20.59811805
77CLK10.57599499
78FGFR40.57154268
79PRKD20.55881507
80CAMK1D0.55785193
81PRKG20.54083661
82CDK60.53427468
83PAK60.53164612
84PRPF4B0.53005200
85ARAF0.52677759
86ADRBK20.52320608
87DAPK30.52274197
88MAP2K30.51354350
89CAMK2G0.49342503
90RPS6KA60.48695325
91TAOK20.48293989
92TBK10.47890961
93MARK20.46478102
94MAPK40.46411539
95JAK10.45926917
96PRKD30.44690681
97NME20.44626365
98MAP3K30.43925524
99WNK10.43298109
100KSR20.43106080
101SRC0.42585501
102MAPKAPK50.42235279
103ICK0.40873502
104CAMKK10.40384134
105FGFR30.39754022
106PAK10.39374382
107AKT30.37847853
108LMTK20.37482285
109CAMK10.37239290
110IGF1R0.37186240
111ADRBK10.37036888
112FLT30.36999156
113MAPKAPK30.36755175
114MELK0.35721267
115PRKCE0.33681106
116GSK3A0.32730389
117ERBB20.32406769
118ZAP700.31288335
119CAMK2D0.30425183
120EPHA20.30084537
121ERBB40.29723863
122MAPKAPK20.27329960
123CAMKK20.26992946
124ABL10.25919950
125MAPK10.24036103
126TAOK10.22951929
127CAMK1G0.22560828
128DYRK1B0.21670583
129JAK30.20506952
130EGFR0.17517289

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045124.29739573
2Focal adhesion_Homo sapiens_hsa045103.40403495
3Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.93261359
4AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049332.68315157
5Protein digestion and absorption_Homo sapiens_hsa049742.48554035
6Malaria_Homo sapiens_hsa051442.40863545
7Bacterial invasion of epithelial cells_Homo sapiens_hsa051002.39436397
8Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.37048452
9Proteoglycans in cancer_Homo sapiens_hsa052052.34240829
10Amoebiasis_Homo sapiens_hsa051462.31173881
11Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.29949558
12Dilated cardiomyopathy_Homo sapiens_hsa054142.22765878
13Adherens junction_Homo sapiens_hsa045202.18096683
14TGF-beta signaling pathway_Homo sapiens_hsa043502.12977323
15PI3K-Akt signaling pathway_Homo sapiens_hsa041511.76255367
16Leukocyte transendothelial migration_Homo sapiens_hsa046701.72554824
17Hippo signaling pathway_Homo sapiens_hsa043901.68991322
18Bladder cancer_Homo sapiens_hsa052191.68297884
19Regulation of actin cytoskeleton_Homo sapiens_hsa048101.56805040
20Small cell lung cancer_Homo sapiens_hsa052221.54255368
21Melanoma_Homo sapiens_hsa052181.51443441
22MicroRNAs in cancer_Homo sapiens_hsa052061.44873392
23Rap1 signaling pathway_Homo sapiens_hsa040151.33862399
24Basal cell carcinoma_Homo sapiens_hsa052171.33701973
25Tight junction_Homo sapiens_hsa045301.29404619
26Viral myocarditis_Homo sapiens_hsa054161.24135998
27Chronic myeloid leukemia_Homo sapiens_hsa052201.23560024
28Platelet activation_Homo sapiens_hsa046111.22277153
29Prostate cancer_Homo sapiens_hsa052151.12075693
30Pathways in cancer_Homo sapiens_hsa052001.08361622
31Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.08095182
32Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.07555522
33Axon guidance_Homo sapiens_hsa043601.06013392
34TNF signaling pathway_Homo sapiens_hsa046681.02790205
35Glycosaminoglycan degradation_Homo sapiens_hsa005311.00653806
36Shigellosis_Homo sapiens_hsa051311.00519347
37Vascular smooth muscle contraction_Homo sapiens_hsa042700.99921991
38Hedgehog signaling pathway_Homo sapiens_hsa043400.99194891
39Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.96260410
40Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.95736412
41Glioma_Homo sapiens_hsa052140.95469320
42Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.89933844
43Melanogenesis_Homo sapiens_hsa049160.88602790
44Toxoplasmosis_Homo sapiens_hsa051450.85341794
45Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.85206931
46Salmonella infection_Homo sapiens_hsa051320.83227256
47p53 signaling pathway_Homo sapiens_hsa041150.82094798
48Lysosome_Homo sapiens_hsa041420.81828524
49Phagosome_Homo sapiens_hsa041450.80338065
50Pancreatic cancer_Homo sapiens_hsa052120.79635535
51Thyroid hormone synthesis_Homo sapiens_hsa049180.75166932
52Ras signaling pathway_Homo sapiens_hsa040140.74223598
53HIF-1 signaling pathway_Homo sapiens_hsa040660.74137314
54Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.73704952
55Renin-angiotensin system_Homo sapiens_hsa046140.73336700
56Wnt signaling pathway_Homo sapiens_hsa043100.72378808
57Complement and coagulation cascades_Homo sapiens_hsa046100.72155513
58Cocaine addiction_Homo sapiens_hsa050300.71790481
59Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.71213014
60HTLV-I infection_Homo sapiens_hsa051660.70317308
61Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.70125289
62Notch signaling pathway_Homo sapiens_hsa043300.68811121
63Gap junction_Homo sapiens_hsa045400.68315395
64Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.66366150
65Central carbon metabolism in cancer_Homo sapiens_hsa052300.65733552
66Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.64844045
67Apoptosis_Homo sapiens_hsa042100.64507631
68Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.64339878
69Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.63448773
70Sulfur metabolism_Homo sapiens_hsa009200.62267706
71Aldosterone synthesis and secretion_Homo sapiens_hsa049250.60668748
72Ovarian steroidogenesis_Homo sapiens_hsa049130.59326313
73Renal cell carcinoma_Homo sapiens_hsa052110.58102357
74Rheumatoid arthritis_Homo sapiens_hsa053230.57007460
75Prion diseases_Homo sapiens_hsa050200.56053297
76Hepatitis B_Homo sapiens_hsa051610.55950186
77Calcium signaling pathway_Homo sapiens_hsa040200.54429321
78Phospholipase D signaling pathway_Homo sapiens_hsa040720.54324136
79cAMP signaling pathway_Homo sapiens_hsa040240.53979009
80Longevity regulating pathway - mammal_Homo sapiens_hsa042110.53969199
81Endometrial cancer_Homo sapiens_hsa052130.53949366
82N-Glycan biosynthesis_Homo sapiens_hsa005100.53669883
83Estrogen signaling pathway_Homo sapiens_hsa049150.53232502
84Other glycan degradation_Homo sapiens_hsa005110.52711945
85Adipocytokine signaling pathway_Homo sapiens_hsa049200.50774924
86Oxytocin signaling pathway_Homo sapiens_hsa049210.50662621
87Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.50472549
88Renin secretion_Homo sapiens_hsa049240.48093047
89Dorso-ventral axis formation_Homo sapiens_hsa043200.47772716
90Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.47592681
91Insulin resistance_Homo sapiens_hsa049310.47494632
92Endocytosis_Homo sapiens_hsa041440.47286209
93Galactose metabolism_Homo sapiens_hsa000520.47115143
94Leishmaniasis_Homo sapiens_hsa051400.47064589
95FoxO signaling pathway_Homo sapiens_hsa040680.45929540
96cGMP-PKG signaling pathway_Homo sapiens_hsa040220.45729816
97Neurotrophin signaling pathway_Homo sapiens_hsa047220.43998698
98Colorectal cancer_Homo sapiens_hsa052100.43681005
99PPAR signaling pathway_Homo sapiens_hsa033200.42968063
100Mineral absorption_Homo sapiens_hsa049780.41657180
101MAPK signaling pathway_Homo sapiens_hsa040100.39454581
102Glutathione metabolism_Homo sapiens_hsa004800.38774369
103Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.37936945
104Thyroid hormone signaling pathway_Homo sapiens_hsa049190.36348912
105Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.36044670
106Sphingolipid signaling pathway_Homo sapiens_hsa040710.35773269
107Vibrio cholerae infection_Homo sapiens_hsa051100.35205828
108Pertussis_Homo sapiens_hsa051330.35139354
109AMPK signaling pathway_Homo sapiens_hsa041520.34300902
110SNARE interactions in vesicular transport_Homo sapiens_hsa041300.33401025
111mTOR signaling pathway_Homo sapiens_hsa041500.33125495
112GnRH signaling pathway_Homo sapiens_hsa049120.33040628
113Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.31882678
114Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.31677672
115Choline metabolism in cancer_Homo sapiens_hsa052310.30283092
116Cholinergic synapse_Homo sapiens_hsa047250.29936747
117Thyroid cancer_Homo sapiens_hsa052160.29544460
118Steroid biosynthesis_Homo sapiens_hsa001000.27837645
119Jak-STAT signaling pathway_Homo sapiens_hsa046300.26344765

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