FBLN2

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 an extracellular matrix protein, which belongs to the fibulin family. This protein binds various extracellular ligands and calcium. It may play a role during organ development, in particular, during the differentiation of heart, skeletal and neuronal structures. Alternatively spliced transcript variants encoding different isoforms have been identified. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1chondrocyte proliferation (GO:0035988)7.17853163
2collagen fibril organization (GO:0030199)6.66142796
3protein heterotrimerization (GO:0070208)6.60031717
4skin morphogenesis (GO:0043589)5.96854742
5endodermal cell differentiation (GO:0035987)5.89966020
6cell adhesion mediated by integrin (GO:0033627)5.54235829
7cell migration involved in heart development (GO:0060973)5.47644636
8sequestering of extracellular ligand from receptor (GO:0035581)5.44531585
9positive regulation of endothelial cell apoptotic process (GO:2000353)5.22477376
10bone trabecula formation (GO:0060346)5.15894156
11type B pancreatic cell proliferation (GO:0044342)4.92068307
12regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)4.86337865
13wound healing, spreading of epidermal cells (GO:0035313)4.67111263
14cellular response to vitamin (GO:0071295)4.58583626
15negative regulation of fatty acid transport (GO:2000192)4.52854938
16blood vessel maturation (GO:0001955)4.49949678
17collagen metabolic process (GO:0032963)4.47965266
18neuron projection extension involved in neuron projection guidance (GO:1902284)4.44884104
19axon extension involved in axon guidance (GO:0048846)4.44884104
20collagen catabolic process (GO:0030574)4.40597536
21plasma membrane repair (GO:0001778)4.23637263
22mesenchymal-epithelial cell signaling (GO:0060638)4.19693111
23keratan sulfate catabolic process (GO:0042340)4.17507561
24multicellular organismal macromolecule metabolic process (GO:0044259)4.16732718
25basement membrane organization (GO:0071711)4.04013690
26multicellular organismal catabolic process (GO:0044243)4.00938962
27regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.99602628
28peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)3.99463047
29wound healing, spreading of cells (GO:0044319)3.97105484
30extracellular matrix disassembly (GO:0022617)3.96202675
31cartilage development involved in endochondral bone morphogenesis (GO:0060351)3.95919359
32dermatan sulfate biosynthetic process (GO:0030208)3.94734561
33multicellular organismal metabolic process (GO:0044236)3.91721584
34apoptotic cell clearance (GO:0043277)3.89047237
35epithelial cell-cell adhesion (GO:0090136)3.84878397
36substrate-dependent cell migration (GO:0006929)3.83401699
37cellular response to vitamin D (GO:0071305)3.73747924
38barbed-end actin filament capping (GO:0051016)3.70479816
39peptidyl-proline hydroxylation (GO:0019511)3.68813153
40positive regulation of blood vessel endothelial cell migration (GO:0043536)3.63793680
41negative regulation of smooth muscle cell migration (GO:0014912)3.63535354
42craniofacial suture morphogenesis (GO:0097094)3.56931504
43dermatan sulfate metabolic process (GO:0030205)3.55260260
44tooth mineralization (GO:0034505)3.51898294
45vascular endothelial growth factor signaling pathway (GO:0038084)3.50462678
46metanephric mesenchyme development (GO:0072075)3.46628737
47regulation of tight junction assembly (GO:2000810)3.44540356
48regulation of plasminogen activation (GO:0010755)3.44189981
49protein localization to cell surface (GO:0034394)3.43279749
50cell-substrate junction assembly (GO:0007044)3.42446021
51extracellular matrix assembly (GO:0085029)3.40913680
52cell migration involved in sprouting angiogenesis (GO:0002042)3.40465854
53negative regulation of chondrocyte differentiation (GO:0032331)3.39616627
54hippo signaling (GO:0035329)3.37238751
55extracellular fibril organization (GO:0043206)3.36963771
56stress fiber assembly (GO:0043149)3.36224763
57retina vasculature morphogenesis in camera-type eye (GO:0061299)3.34111890
58cell proliferation involved in metanephros development (GO:0072203)3.28769378
59positive regulation of epithelial to mesenchymal transition (GO:0010718)3.28501906
60cellular response to interferon-alpha (GO:0035457)3.27522926
61kidney mesenchyme development (GO:0072074)3.27410744
62negative regulation of fibrinolysis (GO:0051918)3.26016348
63fibril organization (GO:0097435)3.25220926
64negative regulation of adherens junction organization (GO:1903392)3.23938923
65negative regulation of focal adhesion assembly (GO:0051895)3.23938923
66negative regulation of cell junction assembly (GO:1901889)3.23938923
67adhesion of symbiont to host cell (GO:0044650)3.22561513
68virion attachment to host cell (GO:0019062)3.22561513
69adherens junction assembly (GO:0034333)3.19492049
70protein hydroxylation (GO:0018126)3.18504569
71cellular response to vascular endothelial growth factor stimulus (GO:0035924)3.16198749
72positive regulation of macrophage activation (GO:0043032)3.15995335
73substrate adhesion-dependent cell spreading (GO:0034446)3.13749925
74middle ear morphogenesis (GO:0042474)3.11157120
75endocardial cushion development (GO:0003197)3.11132138
76cellular response to amino acid stimulus (GO:0071230)3.09494540
77planar cell polarity pathway involved in neural tube closure (GO:0090179)3.08483868
78venous blood vessel morphogenesis (GO:0048845)3.06999041
79positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr3.06919874
80* extracellular matrix organization (GO:0030198)3.06618103
81* extracellular structure organization (GO:0043062)3.05293597
82regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.01664175
83positive regulation of fibroblast migration (GO:0010763)3.00238941
84endothelial cell morphogenesis (GO:0001886)2.99321442
85negative regulation of BMP signaling pathway (GO:0030514)2.98975761
86positive regulation of osteoblast proliferation (GO:0033690)2.98593713
87renal filtration (GO:0097205)2.98305145
88cellular response to nutrient (GO:0031670)2.97027136
89glomerular basement membrane development (GO:0032836)2.96918941
90regulation of extracellular matrix disassembly (GO:0010715)2.95165662
91mesodermal cell differentiation (GO:0048333)2.90916603
92negative regulation of cell-matrix adhesion (GO:0001953)2.86649694
93negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)2.85864471
94adhesion of symbiont to host (GO:0044406)2.83751743
95blood vessel endothelial cell migration (GO:0043534)2.83538969
96outer ear morphogenesis (GO:0042473)2.80751551
97negative regulation of cartilage development (GO:0061037)2.79883533
98paraxial mesoderm development (GO:0048339)2.79550793
99wound healing (GO:0042060)2.78494915
100response to fluid shear stress (GO:0034405)2.77351698
101polarized epithelial cell differentiation (GO:0030859)2.76828513
102regulation of cartilage development (GO:0061035)2.74398708
103regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition 2.74382021
104positive regulation of receptor recycling (GO:0001921)2.72690970
105trabecula formation (GO:0060343)2.71083280
106smooth muscle tissue development (GO:0048745)2.70857150
107endothelial cell proliferation (GO:0001935)2.69919091
108cell-substrate adherens junction assembly (GO:0007045)2.69556256
109focal adhesion assembly (GO:0048041)2.69556256
110extracellular negative regulation of signal transduction (GO:1900116)2.69521635
111extracellular regulation of signal transduction (GO:1900115)2.69521635
112embryonic cranial skeleton morphogenesis (GO:0048701)2.69111955
113regulation of chemokine-mediated signaling pathway (GO:0070099)2.69010159
114platelet degranulation (GO:0002576)2.68214082
115cardiac myofibril assembly (GO:0055003)2.67745663
116regulation of integrin-mediated signaling pathway (GO:2001044)2.67324389
117chondrocyte development (GO:0002063)2.66768163
118negative regulation of catenin import into nucleus (GO:0035414)2.66430845
119insulin-like growth factor receptor signaling pathway (GO:0048009)2.66251052
120positive regulation of extracellular matrix organization (GO:1903055)2.65511000
121phagocytosis, recognition (GO:0006910)2.64010489
122low-density lipoprotein particle clearance (GO:0034383)2.62886616
123protein retention in ER lumen (GO:0006621)2.62285188
124regulation of phospholipase A2 activity (GO:0032429)2.61486244
125positive regulation of membrane protein ectodomain proteolysis (GO:0051044)2.58550255
126negative regulation of leukocyte chemotaxis (GO:0002689)2.55648587
127negative regulation of homotypic cell-cell adhesion (GO:0034111)2.54787845
128hyaluronan catabolic process (GO:0030214)2.54440499
129regulation of smooth muscle cell migration (GO:0014910)2.54315344
130chondroitin sulfate catabolic process (GO:0030207)2.53882723
131glycosaminoglycan catabolic process (GO:0006027)2.50176998
132Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.49927303
133positive regulation of mesenchymal cell proliferation (GO:0002053)2.48596811
134pericardium development (GO:0060039)2.47743383

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human7.12831157
2TRIM28_21343339_ChIP-Seq_HEK293_Human6.61583957
3* RARG_19884340_ChIP-ChIP_MEFs_Mouse5.24240978
4PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse3.93347203
5CLOCK_20551151_ChIP-Seq_293T_Human3.27877624
6* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse3.25113261
7NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse3.22346406
8TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.91739399
9* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.91663287
10THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.54928428
11* CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.48298601
12EGR1_19374776_ChIP-ChIP_THP-1_Human2.46999183
13SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.42556119
14CJUN_26792858_Chip-Seq_BT549_Human2.39331159
15HIF1A_21447827_ChIP-Seq_MCF-7_Human2.21771480
16WT1_19549856_ChIP-ChIP_CCG9911_Human2.21700283
17CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse2.21091870
18BRD4_25478319_ChIP-Seq_HGPS_Human2.20205940
19ELK3_25401928_ChIP-Seq_HUVEC_Human2.19669797
20WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse2.16695015
21* EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.10818519
22ESR1_15608294_ChIP-ChIP_MCF-7_Human2.03076780
23* ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.02577039
24SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.98189464
25SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.98189464
26SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.91332172
27* EP300_21415370_ChIP-Seq_HL-1_Mouse1.90584229
28SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.80829652
29NRF2_20460467_ChIP-Seq_MEFs_Mouse1.79971116
30NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.79971116
31ATF3_27146783_Chip-Seq_COLON_Human1.78137289
32ESR2_21235772_ChIP-Seq_MCF-7_Human1.77445422
33PPAR_26484153_Chip-Seq_NCI-H1993_Human1.77082203
34NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.76532014
35ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.75237830
36P300_27058665_Chip-Seq_ZR-75-30cells_Human1.72586882
37SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.69755264
38SMC1_22415368_ChIP-Seq_MEFs_Mouse1.67023638
39SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.63765071
40JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.63662048
41CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.62363197
42TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.60920646
43TP53_22127205_ChIP-Seq_IMR90_Human1.60622958
44TP53_20018659_ChIP-ChIP_R1E_Mouse1.59503465
45SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.56819297
46ESR1_21235772_ChIP-Seq_MCF-7_Human1.56315786
47UBF1/2_26484160_Chip-Seq_HMECs_Human1.56259146
48* TP53_23651856_ChIP-Seq_MEFs_Mouse1.54819246
49JARID2_20075857_ChIP-Seq_MESCs_Mouse1.47960246
50JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.47260475
51SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.46280520
52ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.45804561
53RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.45168946
54UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.45161746
55MTF2_20144788_ChIP-Seq_MESCs_Mouse1.45025796
56TP53_16413492_ChIP-PET_HCT116_Human1.44514764
57SMAD_19615063_ChIP-ChIP_OVARY_Human1.42948796
58KDM2B_26808549_Chip-Seq_SUP-B15_Human1.41903530
59PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.41410108
60KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.41243941
61RACK7_27058665_Chip-Seq_MCF-7_Human1.39024928
62PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.38964691
63ZFP281_18757296_ChIP-ChIP_E14_Mouse1.36820438
64SOX9_24532713_ChIP-Seq_HFSC_Mouse1.33527281
65MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.31620905
66FOXO3_23340844_ChIP-Seq_DLD1_Human1.30749955
67MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.30435547
68SOX2_20726797_ChIP-Seq_SW620_Human1.29654201
69STAT6_21828071_ChIP-Seq_BEAS2B_Human1.28853080
70TP53_18474530_ChIP-ChIP_U2OS_Human1.28580783
71TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.28201146
72HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.26584463
73TBX20_22328084_ChIP-Seq_HEART_Mouse1.26164990
74TBX20_22080862_ChIP-Seq_HEART_Mouse1.26164990
75RNF2_27304074_Chip-Seq_ESCs_Mouse1.24728209
76SMC3_22415368_ChIP-Seq_MEFs_Mouse1.24585123
77RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.23233811
78EZH2_27304074_Chip-Seq_ESCs_Mouse1.23173939
79TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.20633146
80SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.17989984
81FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.17394353
82PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.14000163
83SALL4_18804426_ChIP-ChIP_XEN_Mouse1.13574341
84NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.13177086
85LXR_22292898_ChIP-Seq_THP-1_Human1.11460053
86KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.10816917
87ERG_21242973_ChIP-ChIP_JURKAT_Human1.10419598
88KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.10138270
89* P63_26484246_Chip-Seq_KERATINOCYTES_Human1.09604705
90GATA2_21666600_ChIP-Seq_HMVEC_Human1.09288411
91RAD21_21589869_ChIP-Seq_MESCs_Mouse1.08047297
92TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.07939806
93DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.06301767
94ZFP281_27345836_Chip-Seq_ESCs_Mouse1.06057515
95* HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.05873904
96* TET1_21490601_ChIP-Seq_MESCs_Mouse1.05720903
97KDM2B_26808549_Chip-Seq_DND41_Human1.05149822
98WT1_25993318_ChIP-Seq_PODOCYTE_Human1.04242303
99EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.03917327
100KDM2B_26808549_Chip-Seq_K562_Human1.03766665
101FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.02915857
102ELK1_22589737_ChIP-Seq_MCF10A_Human1.02822675
103NFIB_24661679_ChIP-Seq_LUNG_Mouse1.02675210
104* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.02280667
105SA1_22415368_ChIP-Seq_MEFs_Mouse1.02051704
106DNAJC2_21179169_ChIP-ChIP_NT2_Human1.01683931
107EZH2_27294783_Chip-Seq_ESCs_Mouse1.00234968
108TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.00183790
109ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.99167424
110ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.99021505
111TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.97595026
112KLF5_25053715_ChIP-Seq_YYC3_Human0.97538437
113CDX2_19796622_ChIP-Seq_MESCs_Mouse0.96038797
114* PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.95062704
115EED_16625203_ChIP-ChIP_MESCs_Mouse0.94985594
116NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.94189752
117RING1B_27294783_Chip-Seq_ESCs_Mouse0.93813890
118* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.93786735
119ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.93389240
120SUZ12_27294783_Chip-Seq_ESCs_Mouse0.92826330
121* NFI_21473784_ChIP-Seq_ESCs_Mouse0.90365211
122ZNF217_24962896_ChIP-Seq_MCF-7_Human0.89972909
123RNF2_18974828_ChIP-Seq_MESCs_Mouse0.89879988
124EZH2_18974828_ChIP-Seq_MESCs_Mouse0.89879988
125KDM2B_26808549_Chip-Seq_JURKAT_Human0.89170459
126EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.89093791
127SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.88176475
128ISL1_27105846_Chip-Seq_CPCs_Mouse0.87773304
129ZNF263_19887448_ChIP-Seq_K562_Human0.86707280

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen8.18612877
2MP0005275_abnormal_skin_tensile5.01831985
3MP0005503_abnormal_tendon_morphology4.88299934
4MP0003705_abnormal_hypodermis_morpholog4.37641653
5MP0003279_aneurysm4.24154158
6MP0005623_abnormal_meninges_morphology3.29524943
7MP0001958_emphysema3.11028679
8MP0004272_abnormal_basement_membrane2.84830749
9MP0006054_spinal_hemorrhage2.54494228
10MP0010352_gastrointestinal_tract_polyps2.45243423
11MP0003566_abnormal_cell_adhesion2.42703550
12MP0005257_abnormal_intraocular_pressure2.40818825
13MP0009384_cardiac_valve_regurgitation2.38598156
14MP0005023_abnormal_wound_healing2.25350187
15MP0005508_abnormal_skeleton_morphology2.17857624
16MP0002060_abnormal_skin_morphology2.13630345
17MP0003091_abnormal_cell_migration2.10578617
18MP0002295_abnormal_pulmonary_circulatio1.86611469
19MP0002877_abnormal_melanocyte_morpholog1.76630104
20MP0010030_abnormal_orbit_morphology1.74987973
21MP0003385_abnormal_body_wall1.67937611
22MP0001243_abnormal_dermal_layer1.66906393
23MP0000013_abnormal_adipose_tissue1.63305421
24MP0000733_abnormal_muscle_development1.61173821
25MP0001348_abnormal_lacrimal_gland1.60164200
26MP0009250_abnormal_appendicular_skeleto1.55688131
27MP0002108_abnormal_muscle_morphology1.55473530
28MP0004858_abnormal_nervous_system1.49908709
29MP0005670_abnormal_white_adipose1.46862471
30MP0001542_abnormal_bone_strength1.46457156
31MP0002896_abnormal_bone_mineralization1.43424876
32MP0003045_fibrosis1.43310950
33MP0000767_abnormal_smooth_muscle1.42329674
34MP0003283_abnormal_digestive_organ1.38800672
35MP0001299_abnormal_eye_distance/1.32563969
36MP0009053_abnormal_anal_canal1.31392877
37MP0005390_skeleton_phenotype1.20663721
38MP0010368_abnormal_lymphatic_system1.19735779
39MP0002168_other_aberrant_phenotype1.18198379
40MP0003115_abnormal_respiratory_system1.15512521
41MP0000750_abnormal_muscle_regeneration1.14611561
42MP0000428_abnormal_craniofacial_morphol1.14182738
43MP0004134_abnormal_chest_morphology1.08140342
44MP0000751_myopathy1.07859801
45MP0002932_abnormal_joint_morphology1.07528499
46MP0002933_joint_inflammation1.05927053
47MP0002282_abnormal_trachea_morphology1.02941400
48MP0000163_abnormal_cartilage_morphology1.02205362
49MP0003942_abnormal_urinary_system1.00357896
50MP0000003_abnormal_adipose_tissue0.99696043
51MP0002115_abnormal_skeleton_extremities0.99389608
52MP0003300_gastrointestinal_ulcer0.99298759
53MP0003755_abnormal_palate_morphology0.99163665
54MP0000534_abnormal_ureter_morphology0.97539899
55MP0003941_abnormal_skin_development0.96646540
56MP0002254_reproductive_system_inflammat0.95016689
57MP0005076_abnormal_cell_differentiation0.93743061
58MP0002128_abnormal_blood_circulation0.92701807
59MP0005369_muscle_phenotype0.91537446
60MP0002113_abnormal_skeleton_development0.90853158
61MP0005171_absent_coat_pigmentation0.90645001
62MP0000858_altered_metastatic_potential0.89657159
63MP0001614_abnormal_blood_vessel0.88161984
64MP0004130_abnormal_muscle_cell0.88157579
65MP0000537_abnormal_urethra_morphology0.86570220
66MP0004084_abnormal_cardiac_muscle0.86083171
67MP0002971_abnormal_brown_adipose0.83894312
68MP0005388_respiratory_system_phenotype0.83641462
69MP0002133_abnormal_respiratory_system0.83641462
70MP0002089_abnormal_postnatal_growth/wei0.83555124
71MP0005666_abnormal_adipose_tissue0.82135637
72MP0001915_intracranial_hemorrhage0.82051824
73MP0000759_abnormal_skeletal_muscle0.80806830
74MP0002998_abnormal_bone_remodeling0.79938758
75MP0001661_extended_life_span0.78392476
76MP0003448_altered_tumor_morphology0.77722952
77MP0004087_abnormal_muscle_fiber0.76529943
78MP0000432_abnormal_head_morphology0.76389883
79MP0002925_abnormal_cardiovascular_devel0.75870484
80MP0002249_abnormal_larynx_morphology0.75493167
81MP0004036_abnormal_muscle_relaxation0.75396228
82MP0002111_abnormal_tail_morphology0.73701044
83MP0001879_abnormal_lymphatic_vessel0.72685051
84MP0006138_congestive_heart_failure0.72625495
85MP0000747_muscle_weakness0.72500028
86MP0005197_abnormal_uvea_morphology0.70685410
87MP0003795_abnormal_bone_structure0.70032921
88MP0001533_abnormal_skeleton_physiology0.68762949
89MP0003935_abnormal_craniofacial_develop0.68511822
90MP0005058_abnormal_lysosome_morphology0.68163244
91MP0002116_abnormal_craniofacial_bone0.67892727
92MP0003828_pulmonary_edema0.67592239
93MP0002697_abnormal_eye_size0.67450657
94MP0000749_muscle_degeneration0.67263793
95MP0000049_abnormal_middle_ear0.67113636
96MP0005620_abnormal_muscle_contractility0.67083487
97MP0005193_abnormal_anterior_eye0.67032582
98MP0001175_abnormal_lung_morphology0.66653883
99MP0005595_abnormal_vascular_smooth0.66321139
100MP0004233_abnormal_muscle_weight0.65500968
101MP0000467_abnormal_esophagus_morphology0.64757151
102MP0004808_abnormal_hematopoietic_stem0.64508319
103MP0002233_abnormal_nose_morphology0.64079821
104MP0002109_abnormal_limb_morphology0.63248130
105MP0003937_abnormal_limbs/digits/tail_de0.62726141
106MP0000462_abnormal_digestive_system0.61607483
107MP0000343_altered_response_to0.61197529
108MP0002177_abnormal_outer_ear0.60905717
109MP0010771_integument_phenotype0.60767717
110MP0001849_ear_inflammation0.60615880
111MP0005375_adipose_tissue_phenotype0.60253193
112MP0003950_abnormal_plasma_membrane0.59950306
113MP0005164_abnormal_response_to0.59880217
114MP0009278_abnormal_bone_marrow0.59571317
115MP0005330_cardiomyopathy0.58270274
116MP0003453_abnormal_keratinocyte_physiol0.57890117
117MP0002106_abnormal_muscle_physiology0.57540213
118MP0009780_abnormal_chondrocyte_physiolo0.57097779
119MP0000762_abnormal_tongue_morphology0.56534701
120MP0010630_abnormal_cardiac_muscle0.56361128
121MP0002114_abnormal_axial_skeleton0.56205577
122MP0001544_abnormal_cardiovascular_syste0.55274179
123MP0005385_cardiovascular_system_phenoty0.55274179
124MP0010386_abnormal_urinary_bladder0.53795544
125MP0003959_abnormal_lean_body0.51588647

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)9.16475765
2Premature rupture of membranes (HP:0001788)8.80699849
3Peritonitis (HP:0002586)5.39209346
4Atrophic scars (HP:0001075)5.14107265
5Shallow orbits (HP:0000586)5.07467604
6Aortic dissection (HP:0002647)5.01314310
7Ankle contracture (HP:0006466)4.88571024
8Soft skin (HP:0000977)4.71166795
9Fragile skin (HP:0001030)4.54162526
10Abnormality of dentin (HP:0010299)4.39816188
11Cerebral aneurysm (HP:0004944)4.17693156
12Cervical subluxation (HP:0003308)4.06754577
13Bladder diverticulum (HP:0000015)4.06354709
14Dilatation of the ascending aorta (HP:0005111)4.05309254
15Broad metatarsal (HP:0001783)4.02647427
16Genu recurvatum (HP:0002816)3.92257386
17Vertebral compression fractures (HP:0002953)3.78850279
18Aortic aneurysm (HP:0004942)3.78228178
19Neonatal short-limb short stature (HP:0008921)3.70714499
20Biconcave vertebral bodies (HP:0004586)3.59258527
21Wormian bones (HP:0002645)3.53822476
22Wrist flexion contracture (HP:0001239)3.45663821
23Mitral valve prolapse (HP:0001634)3.44703718
24Blue sclerae (HP:0000592)3.42919391
25Spinal rigidity (HP:0003306)3.37629391
26Increased connective tissue (HP:0009025)3.37439646
27Type 1 muscle fiber predominance (HP:0003803)3.17412630
28Bowel diverticulosis (HP:0005222)3.09675339
29Follicular hyperkeratosis (HP:0007502)3.03078794
30Abnormal delivery (HP:0001787)2.89139034
31Hyperextensible skin (HP:0000974)2.82827285
32Vascular tortuosity (HP:0004948)2.82397844
33Abnormality of the acetabulum (HP:0003170)2.77050638
34Infantile muscular hypotonia (HP:0008947)2.74911671
35Aortic valve stenosis (HP:0001650)2.62860601
36Short nail (HP:0001799)2.58328770
37Overgrowth (HP:0001548)2.53421220
38Ectopia lentis (HP:0001083)2.50949359
39Aneurysm (HP:0002617)2.50001965
40Elbow flexion contracture (HP:0002987)2.49789737
41Abnormality of the peritoneum (HP:0002585)2.47854226
42Arterial tortuosity (HP:0005116)2.41431394
43Slender build (HP:0001533)2.40984164
44Nonimmune hydrops fetalis (HP:0001790)2.40827825
45Increased variability in muscle fiber diameter (HP:0003557)2.39328663
46Deviation of the hallux (HP:0010051)2.38621370
47Camptodactyly of toe (HP:0001836)2.38547344
48Mildly elevated creatine phosphokinase (HP:0008180)2.38141842
49Joint laxity (HP:0001388)2.36935890
50Breech presentation (HP:0001623)2.36346868
51Hypoventilation (HP:0002791)2.32364690
52Hallux valgus (HP:0001822)2.30399699
53Osteolytic defects of the phalanges of the hand (HP:0009771)2.27601965
54Osteolytic defects of the hand bones (HP:0009699)2.27601965
55Thin bony cortex (HP:0002753)2.27154724
56Wide anterior fontanel (HP:0000260)2.25210047
57Distal upper limb amyotrophy (HP:0007149)2.21637766
58Upper limb amyotrophy (HP:0009129)2.21637766
59Mitral regurgitation (HP:0001653)2.21009589
60Tibial bowing (HP:0002982)2.20989517
61Spondylolisthesis (HP:0003302)2.20798107
62Redundant skin (HP:0001582)2.18723969
63Generalized amyotrophy (HP:0003700)2.17897043
64Congenital glaucoma (HP:0001087)2.17832884
65Difficulty climbing stairs (HP:0003551)2.16772494
66Abnormality of the calcaneus (HP:0008364)2.16301060
67Buphthalmos (HP:0000557)2.15344934
68Round ear (HP:0100830)2.13818388
69Disproportionate tall stature (HP:0001519)2.11538358
70Abnormality of skeletal muscle fiber size (HP:0012084)2.11060195
71Mesomelia (HP:0003027)2.09416114
72Pulmonary artery stenosis (HP:0004415)2.07626158
73Striae distensae (HP:0001065)2.07173418
74Radial bowing (HP:0002986)2.05857062
75Increased density of long bones (HP:0006392)2.01402875
76Broad ribs (HP:0000885)2.01180507
77Coronal craniosynostosis (HP:0004440)2.00192733
78Delayed cranial suture closure (HP:0000270)1.99735814
79Coxa vara (HP:0002812)1.99593569
80Mitral stenosis (HP:0001718)1.99503100
81Ovoid vertebral bodies (HP:0003300)1.99237224
82Femoral bowing (HP:0002980)1.98892701
83Venous abnormality (HP:0002624)1.98508449
84Ulnar deviation of the wrist (HP:0003049)1.97752083
85Inguinal hernia (HP:0000023)1.96908450
86Limb-girdle muscle weakness (HP:0003325)1.96033465
87Emphysema (HP:0002097)1.95392699
88Distal lower limb amyotrophy (HP:0008944)1.95322685
89Ulnar bowing (HP:0003031)1.95120720
90Delayed closure of the anterior fontanelle (HP:0001476)1.94992613
91Hypoplasia of the iris (HP:0007676)1.93630812
92Osteoarthritis (HP:0002758)1.90899602
93Bowing of the arm (HP:0006488)1.90652899
94Bowed forearm bones (HP:0003956)1.90652899
95Syringomyelia (HP:0003396)1.90273620
96Spinal cord lesions (HP:0100561)1.90273620
97Turricephaly (HP:0000262)1.89046390
98Broad long bones (HP:0005622)1.88076207
99Broad face (HP:0000283)1.87132486
100Persistence of primary teeth (HP:0006335)1.86980135
101Flexion contracture of toe (HP:0005830)1.86338390
102Joint contractures involving the joints of the feet (HP:0100492)1.86338390
103Hip contracture (HP:0003273)1.85593880
104Flat cornea (HP:0007720)1.85013683
105Protruding ear (HP:0000411)1.84368206
106Scapular winging (HP:0003691)1.83999472
107Bell-shaped thorax (HP:0001591)1.83820710
108Aortic regurgitation (HP:0001659)1.83303993
109Natal tooth (HP:0000695)1.82881743
110Thin skin (HP:0000963)1.82691260
111Tarsal synostosis (HP:0008368)1.82588832
112Premature skin wrinkling (HP:0100678)1.82175540
113Venous insufficiency (HP:0005293)1.80578246
114Limited hip movement (HP:0008800)1.80070433
115Decreased skull ossification (HP:0004331)1.79634916
116Abnormality of the anterior chamber (HP:0000593)1.78823114
117Joint stiffness (HP:0001387)1.78649468
118Abnormality of skull ossification (HP:0002703)1.77107880
119Morphological abnormality of the middle ear (HP:0008609)1.76218822
120Mild short stature (HP:0003502)1.75857568
121Knee flexion contracture (HP:0006380)1.73492093
122Osteopenia (HP:0000938)1.72348561
123Deformed tarsal bones (HP:0008119)1.72142107
124Spinal cord compression (HP:0002176)1.72079586
125Short 4th metacarpal (HP:0010044)1.71560715
126Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)1.71560715
127Thoracolumbar scoliosis (HP:0002944)1.70863849
128Calcaneovalgus deformity (HP:0001848)1.70620935
129Gingival overgrowth (HP:0000212)1.70040602
130Narrow nasal bridge (HP:0000446)1.69771440
131Muscle fiber splitting (HP:0003555)1.69409280
132Asymmetric septal hypertrophy (HP:0001670)1.68201668
133Achilles tendon contracture (HP:0001771)1.67801015

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TTN4.81656907
2TRIB34.33688968
3DDR24.32040072
4PDGFRA3.68989584
5LATS23.52633111
6EPHA23.12232464
7PKN23.08742086
8ERN12.77030931
9LATS12.63320811
10PAK22.18675401
11PTK22.18119748
12BMX2.12491829
13EPHB22.07854055
14RIPK12.00307060
15TRPM71.88448743
16MAP3K61.85714859
17PAK31.85571422
18PAK41.78492913
19FER1.71453514
20SIK11.60600036
21PTK61.55716510
22TESK11.54621382
23PIM21.54565013
24LRRK21.52086646
25EEF2K1.46442799
26PTK2B1.32686934
27MAPK71.31960527
28LIMK11.31642537
29RPS6KA41.30130901
30DMPK1.28506308
31GRK51.27232362
32PDGFRB1.25425515
33MET1.15428359
34MOS1.15276998
35MTOR1.14589805
36AKT31.10563252
37EPHA31.09852389
38FGFR11.07477522
39STK31.03474207
40TGFBR21.03330099
41PRPF4B1.02395146
42ILK1.02186992
43EPHB11.02094740
44DAPK31.01925837
45NTRK11.01420306
46TIE11.01088526
47RPS6KA21.00859431
48ROCK10.92085402
49MAP3K70.91377846
50NEK90.90933844
51PIK3CA0.89917169
52MAP3K100.87776332
53SMG10.86762282
54MARK20.85652291
55MAP2K10.83562504
56NME20.81105130
57MYLK0.79172457
58SCYL20.74020873
59FLT30.72116643
60INSR0.71585874
61PRKD20.71235381
62STK38L0.70779790
63ABL20.70430743
64ROCK20.70193816
65PAK10.69193855
66JAK10.69045904
67PIK3CG0.67549876
68PRKD30.65971210
69RPS6KC10.65764607
70RPS6KL10.65764607
71OBSCN0.65682192
72MAP3K30.65027978
73CAMK10.64990971
74PRKD10.64355636
75RET0.64329902
76MAPK40.63569490
77MAP3K80.58894320
78GRK10.57627042
79STK100.57347323
80TESK20.57164187
81CDK60.55113843
82KSR20.54073343
83ERBB40.53635563
84MAPK120.53063274
85PRKCH0.52773043
86ARAF0.51934082
87JAK30.51642682
88TYK20.51177543
89DYRK1B0.50284774
90CDC42BPA0.49965665
91TGFBR10.49914196
92GSK3A0.49120167
93WNK10.49094061
94CAMK1D0.48586349
95CAMK2G0.47904130
96HIPK20.47618699
97RPS6KA60.46920330
98SRC0.44734645
99MAP2K30.44004481
100PRKAA20.43883359
101TAOK10.43783817
102PLK20.43269027
103PRKG20.42219816
104MAPKAPK30.41747680
105CLK10.41583398
106PAK60.40939468
107CAMKK10.40466608
108ERBB30.39787021
109FRK0.39711146
110FGFR40.38894458
111MAPKAPK20.37094045
112ICK0.37061776
113PDPK10.36466223
114CDK140.35000177
115KDR0.34766704
116CDK120.34493619
117CDK150.32100701
118TAOK20.31924919
119KIT0.31911041
120MELK0.31139004
121STK380.29361735
122ABL10.29256927
123MARK10.29251252
124TYRO30.28800820
125MAPK10.26930248
126CDK180.26691467
127CDK11A0.25707220
128ADRBK10.25140436
129MAPKAPK50.23306530
130CAMK1G0.23179180
131TBK10.22732169
132PDK20.21094101
133ERBB20.21083050

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045124.75762696
2Focal adhesion_Homo sapiens_hsa045103.43055215
3Bladder cancer_Homo sapiens_hsa052192.96307847
4Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.66639477
5Proteoglycans in cancer_Homo sapiens_hsa052052.61979032
6AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049332.46261170
7Amoebiasis_Homo sapiens_hsa051462.40619561
8Bacterial invasion of epithelial cells_Homo sapiens_hsa051002.40082093
9Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.34989378
10Small cell lung cancer_Homo sapiens_hsa052222.24504258
11Protein digestion and absorption_Homo sapiens_hsa049742.21180417
12Adherens junction_Homo sapiens_hsa045202.20427568
13Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.20004714
14Malaria_Homo sapiens_hsa051442.15869130
15Dilated cardiomyopathy_Homo sapiens_hsa054142.13670317
16MicroRNAs in cancer_Homo sapiens_hsa052061.98588949
17p53 signaling pathway_Homo sapiens_hsa041151.92466047
18Chronic myeloid leukemia_Homo sapiens_hsa052201.85619591
19Hippo signaling pathway_Homo sapiens_hsa043901.81192310
20PI3K-Akt signaling pathway_Homo sapiens_hsa041511.79004577
21TGF-beta signaling pathway_Homo sapiens_hsa043501.72329274
22Melanoma_Homo sapiens_hsa052181.70661268
23Other glycan degradation_Homo sapiens_hsa005111.67137170
24Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.65238183
25Regulation of actin cytoskeleton_Homo sapiens_hsa048101.59973431
26Basal cell carcinoma_Homo sapiens_hsa052171.46347107
27Glioma_Homo sapiens_hsa052141.44726910
28Shigellosis_Homo sapiens_hsa051311.44005983
29Leukocyte transendothelial migration_Homo sapiens_hsa046701.42885530
30PPAR signaling pathway_Homo sapiens_hsa033201.30421034
31Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.24786687
32Pancreatic cancer_Homo sapiens_hsa052121.22291977
33Viral myocarditis_Homo sapiens_hsa054161.20708838
34Prostate cancer_Homo sapiens_hsa052151.19113404
35cGMP-PKG signaling pathway_Homo sapiens_hsa040221.18243743
36Hedgehog signaling pathway_Homo sapiens_hsa043401.16949533
37Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.16520390
38Tight junction_Homo sapiens_hsa045301.14950997
39TNF signaling pathway_Homo sapiens_hsa046681.14302499
40Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.13993236
41Rap1 signaling pathway_Homo sapiens_hsa040151.13749180
42Pathways in cancer_Homo sapiens_hsa052001.12566401
43Complement and coagulation cascades_Homo sapiens_hsa046101.10112808
44Platelet activation_Homo sapiens_hsa046111.07640055
45Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.04211318
46Phagosome_Homo sapiens_hsa041450.98833610
47Renin-angiotensin system_Homo sapiens_hsa046140.98370413
48HTLV-I infection_Homo sapiens_hsa051660.98217412
49HIF-1 signaling pathway_Homo sapiens_hsa040660.96857019
50Central carbon metabolism in cancer_Homo sapiens_hsa052300.96826419
51Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.93867987
52Toxoplasmosis_Homo sapiens_hsa051450.92738513
53Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.92319197
54Axon guidance_Homo sapiens_hsa043600.89092293
55Renal cell carcinoma_Homo sapiens_hsa052110.86323996
56Wnt signaling pathway_Homo sapiens_hsa043100.82185414
57Apoptosis_Homo sapiens_hsa042100.81763044
58Salmonella infection_Homo sapiens_hsa051320.80710130
59Viral carcinogenesis_Homo sapiens_hsa052030.78045157
60Gap junction_Homo sapiens_hsa045400.74644005
61Tyrosine metabolism_Homo sapiens_hsa003500.74278736
62Glycosaminoglycan degradation_Homo sapiens_hsa005310.72615948
63Aldosterone synthesis and secretion_Homo sapiens_hsa049250.72204220
64Phenylalanine metabolism_Homo sapiens_hsa003600.70551072
65Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.70377978
66Colorectal cancer_Homo sapiens_hsa052100.70008073
67Estrogen signaling pathway_Homo sapiens_hsa049150.67774798
68Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.67291378
69VEGF signaling pathway_Homo sapiens_hsa043700.67215583
70Melanogenesis_Homo sapiens_hsa049160.67064199
71Hepatitis B_Homo sapiens_hsa051610.65296699
72Notch signaling pathway_Homo sapiens_hsa043300.62934050
73Endometrial cancer_Homo sapiens_hsa052130.62307586
74Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.62238024
75Ras signaling pathway_Homo sapiens_hsa040140.61716443
76mTOR signaling pathway_Homo sapiens_hsa041500.60529944
77Endocytosis_Homo sapiens_hsa041440.60441514
78GnRH signaling pathway_Homo sapiens_hsa049120.59850415
79FoxO signaling pathway_Homo sapiens_hsa040680.58843724
80Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.57187718
81Galactose metabolism_Homo sapiens_hsa000520.56885914
82Neurotrophin signaling pathway_Homo sapiens_hsa047220.56227272
83Thyroid cancer_Homo sapiens_hsa052160.54880278
84Renin secretion_Homo sapiens_hsa049240.54730803
85Oxytocin signaling pathway_Homo sapiens_hsa049210.54185432
86Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.53227516
87Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.53067407
88Lysosome_Homo sapiens_hsa041420.53050156
89Non-small cell lung cancer_Homo sapiens_hsa052230.52288153
90Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.50966655
91Pentose phosphate pathway_Homo sapiens_hsa000300.50826006
92ErbB signaling pathway_Homo sapiens_hsa040120.49982988
93N-Glycan biosynthesis_Homo sapiens_hsa005100.49091081
94Longevity regulating pathway - mammal_Homo sapiens_hsa042110.49074175
95Phospholipase D signaling pathway_Homo sapiens_hsa040720.48906573
96Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.47502945
97Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.46879896
98Acute myeloid leukemia_Homo sapiens_hsa052210.45385939
99Adipocytokine signaling pathway_Homo sapiens_hsa049200.44815141
100Thyroid hormone signaling pathway_Homo sapiens_hsa049190.44637365
101cAMP signaling pathway_Homo sapiens_hsa040240.44548923
102Glucagon signaling pathway_Homo sapiens_hsa049220.44384837
103Leishmaniasis_Homo sapiens_hsa051400.43273288
104Calcium signaling pathway_Homo sapiens_hsa040200.42913875
105MAPK signaling pathway_Homo sapiens_hsa040100.42838955
106Prion diseases_Homo sapiens_hsa050200.40671344
107Vascular smooth muscle contraction_Homo sapiens_hsa042700.40508068
108Choline metabolism in cancer_Homo sapiens_hsa052310.40138606
109Insulin resistance_Homo sapiens_hsa049310.40033753
110AMPK signaling pathway_Homo sapiens_hsa041520.39757980
111Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.39240988
112Osteoclast differentiation_Homo sapiens_hsa043800.37528411
113Lysine degradation_Homo sapiens_hsa003100.37357587
114Glycerolipid metabolism_Homo sapiens_hsa005610.35093819
115Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.34667886
116Insulin signaling pathway_Homo sapiens_hsa049100.33846225
117Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.33829169
118Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.33683451
119Ovarian steroidogenesis_Homo sapiens_hsa049130.33624790
120Cocaine addiction_Homo sapiens_hsa050300.33488453
121Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.31291119
122Rheumatoid arthritis_Homo sapiens_hsa053230.30918670
123Pertussis_Homo sapiens_hsa051330.30551527
124Prolactin signaling pathway_Homo sapiens_hsa049170.30200360
125Thyroid hormone synthesis_Homo sapiens_hsa049180.30068448
126Cell cycle_Homo sapiens_hsa041100.29633302

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