FBN1

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





Description: This gene encodes a member of the fibrillin family of proteins. The encoded preproprotein is proteolytically processed to generate two proteins including the extracellular matrix component fibrillin-1 and the protein hormone asprosin. Fibrillin-1 is an extracellular matrix glycoprotein that serves as a structural component of calcium-binding microfibrils. These microfibrils provide force-bearing structural support in elastic and nonelastic connective tissue throughout the body. Asprosin, secreted by white adipose tissue, has been shown to regulate glucose homeostasis. Mutations in this gene are associated with Marfan syndrome and the related MASS phenotype, as well as ectopia lentis syndrome, Weill-Marchesani syndrome, Shprintzen-Goldberg syndrome and neonatal progeroid syndrome. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1collagen fibril organization (GO:0030199)7.57882302
2protein heterotrimerization (GO:0070208)7.53400474
3bone trabecula formation (GO:0060346)6.25496500
4chondrocyte proliferation (GO:0035988)5.71372195
5extracellular fibril organization (GO:0043206)5.30437752
6endodermal cell differentiation (GO:0035987)5.21634787
7collagen metabolic process (GO:0032963)5.12728496
8collagen catabolic process (GO:0030574)5.01522083
9multicellular organismal macromolecule metabolic process (GO:0044259)4.84842935
10skin morphogenesis (GO:0043589)4.79338841
11fibril organization (GO:0097435)4.77724743
12regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)4.67941713
13neuron projection extension involved in neuron projection guidance (GO:1902284)4.65675303
14axon extension involved in axon guidance (GO:0048846)4.65675303
15multicellular organismal catabolic process (GO:0044243)4.62906758
16multicellular organismal metabolic process (GO:0044236)4.58679669
17* sequestering of extracellular ligand from receptor (GO:0035581)4.32889445
18dermatan sulfate biosynthetic process (GO:0030208)4.29514067
19extracellular matrix assembly (GO:0085029)4.21658791
20* extracellular matrix disassembly (GO:0022617)4.20291640
21basement membrane organization (GO:0071711)4.15972877
22plasma membrane repair (GO:0001778)4.11553954
23cartilage development involved in endochondral bone morphogenesis (GO:0060351)4.11118575
24mesenchymal-epithelial cell signaling (GO:0060638)4.07581165
25type B pancreatic cell proliferation (GO:0044342)4.02012903
26cell adhesion mediated by integrin (GO:0033627)3.95412092
27retina vasculature morphogenesis in camera-type eye (GO:0061299)3.91494713
28positive regulation of endothelial cell apoptotic process (GO:2000353)3.88705527
29dermatan sulfate metabolic process (GO:0030205)3.88108877
30negative regulation of chondrocyte differentiation (GO:0032331)3.77625076
31metanephric mesenchyme development (GO:0072075)3.73661123
32negative regulation of fatty acid transport (GO:2000192)3.72966045
33wound healing, spreading of epidermal cells (GO:0035313)3.64674838
34craniofacial suture morphogenesis (GO:0097094)3.63001756
35apoptotic cell clearance (GO:0043277)3.62119542
36vascular endothelial growth factor signaling pathway (GO:0038084)3.59334894
37glomerular basement membrane development (GO:0032836)3.57035696
38kidney mesenchyme development (GO:0072074)3.50860167
39positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr3.49049817
40epithelial cell-cell adhesion (GO:0090136)3.42503909
41cell-substrate junction assembly (GO:0007044)3.41344539
42insulin-like growth factor receptor signaling pathway (GO:0048009)3.38941941
43regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition 3.38384893
44cellular response to vitamin (GO:0071295)3.36996868
45keratan sulfate catabolic process (GO:0042340)3.35574653
46* extracellular matrix organization (GO:0030198)3.31849192
47* extracellular structure organization (GO:0043062)3.30556930
48regulation of plasminogen activation (GO:0010755)3.29568989
49trabecula formation (GO:0060343)3.26328254
50planar cell polarity pathway involved in neural tube closure (GO:0090179)3.25824892
51peptidyl-proline hydroxylation (GO:0019511)3.24404715
52heparan sulfate proteoglycan biosynthetic process (GO:0015012)3.22341642
53endothelial cell morphogenesis (GO:0001886)3.21978041
54hippo signaling (GO:0035329)3.20616976
55barbed-end actin filament capping (GO:0051016)3.20047834
56glomerular filtration (GO:0003094)3.19039793
57blood vessel maturation (GO:0001955)3.16949710
58negative regulation of cartilage development (GO:0061037)3.16887719
59cellular response to vitamin D (GO:0071305)3.16537587
60cellular response to amino acid stimulus (GO:0071230)3.13973353
61adhesion of symbiont to host cell (GO:0044650)3.13650505
62virion attachment to host cell (GO:0019062)3.13650505
63regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.12828308
64chondrocyte development (GO:0002063)3.12287371
65protein localization to cell surface (GO:0034394)3.11634388
66protein retention in ER lumen (GO:0006621)3.08308952
67venous blood vessel morphogenesis (GO:0048845)3.08120185
68substrate adhesion-dependent cell spreading (GO:0034446)3.06139001
69Golgi transport vesicle coating (GO:0048200)3.05364035
70COPI coating of Golgi vesicle (GO:0048205)3.05364035
71lymphangiogenesis (GO:0001946)3.04830654
72hemidesmosome assembly (GO:0031581)3.04664066
73cell migration involved in heart development (GO:0060973)3.03126320
74peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)3.02764769
75protein hydroxylation (GO:0018126)3.01945198
76regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.00277403
77pericardium development (GO:0060039)2.99391433
78endocardial cushion development (GO:0003197)2.99277725
79sprouting angiogenesis (GO:0002040)2.99144587
80regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)2.98266867
81negative regulation of embryonic development (GO:0045992)2.97619005
82regulation of extracellular matrix disassembly (GO:0010715)2.95867850
83positive regulation of epithelial to mesenchymal transition (GO:0010718)2.95629880
84chondroitin sulfate biosynthetic process (GO:0030206)2.95545064
85renal filtration (GO:0097205)2.94039068
86embryonic cranial skeleton morphogenesis (GO:0048701)2.93744188
87cell migration involved in sprouting angiogenesis (GO:0002042)2.93535737
88maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.92464018
89substrate-dependent cell migration (GO:0006929)2.90600710
90cardiac myofibril assembly (GO:0055003)2.90267940
91tooth mineralization (GO:0034505)2.88823405
92cellular response to interferon-alpha (GO:0035457)2.87111706
93positive regulation of blood vessel endothelial cell migration (GO:0043536)2.86204886
94negative regulation of catenin import into nucleus (GO:0035414)2.84901721
95wound healing, spreading of cells (GO:0044319)2.84398255
96negative regulation of axon extension involved in axon guidance (GO:0048843)2.83192124
97positive regulation of fibroblast migration (GO:0010763)2.78309442
98regulation of tight junction assembly (GO:2000810)2.78198207
99smooth muscle tissue development (GO:0048745)2.78192026
100stress fiber assembly (GO:0043149)2.77966738
101regulation of branching involved in salivary gland morphogenesis (GO:0060693)2.77632048
102regulation of integrin-mediated signaling pathway (GO:2001044)2.75916422
103positive regulation of mesenchymal cell proliferation (GO:0002053)2.75825321
104actin filament depolymerization (GO:0030042)2.75147501
105vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.74480664
106cell proliferation involved in metanephros development (GO:0072203)2.74252062
107positive regulation of osteoblast proliferation (GO:0033690)2.73890775
108cellular response to vascular endothelial growth factor stimulus (GO:0035924)2.72408213
109regulation of osteoblast proliferation (GO:0033688)2.71340090
110branching involved in salivary gland morphogenesis (GO:0060445)2.70544050
111outer ear morphogenesis (GO:0042473)2.70211329
112cell-matrix adhesion (GO:0007160)2.69999287
113regulation of cartilage development (GO:0061035)2.69105102
114regulation of axon extension involved in axon guidance (GO:0048841)2.68646392
115negative regulation of smooth muscle cell migration (GO:0014912)2.68282302
116negative regulation of nitric-oxide synthase activity (GO:0051001)2.66661216
117positive regulation of cartilage development (GO:0061036)2.65513510
118dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.64489617
119cranial suture morphogenesis (GO:0060363)2.64123497
120face morphogenesis (GO:0060325)2.63810803
121positive regulation of axon extension (GO:0045773)2.63269939
122adherens junction assembly (GO:0034333)2.63168542
123positive regulation of extracellular matrix organization (GO:1903055)2.63137524
124regulation of chondrocyte differentiation (GO:0032330)2.62481923
125cell-substrate adhesion (GO:0031589)2.61334331
126response to fluid shear stress (GO:0034405)2.61234512
127glial cell migration (GO:0008347)2.60440096
128eye morphogenesis (GO:0048592)2.60349800
129regulation of gastrulation (GO:0010470)2.59785196
130endothelial cell proliferation (GO:0001935)2.58967985
131camera-type eye morphogenesis (GO:0048593)2.58272340

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human6.51610782
2RARG_19884340_ChIP-ChIP_MEFs_Mouse4.35994654
3TP63_17297297_ChIP-ChIP_HaCaT_Human4.01869760
4PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse4.01773954
5CLOCK_20551151_ChIP-Seq_293T_Human3.04413437
6ESR1_22446102_ChIP-Seq_UTERUS_Mouse3.02139258
7* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.85537866
8WT1_19549856_ChIP-ChIP_CCG9911_Human2.82508946
9* CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse2.81354819
10RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.75462358
11NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.69767133
12CJUN_26792858_Chip-Seq_BT549_Human2.67297957
13EP300_21415370_ChIP-Seq_HL-1_Mouse2.59180564
14CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.53385064
15BRD4_25478319_ChIP-Seq_HGPS_Human2.32428075
16EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.24349304
17SMAD_19615063_ChIP-ChIP_OVARY_Human2.13626023
18WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse2.08945883
19NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.99235417
20NRF2_20460467_ChIP-Seq_MEFs_Mouse1.99235417
21CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.97683807
22CDX2_19796622_ChIP-Seq_MESCs_Mouse1.90709645
23HIF1A_21447827_ChIP-Seq_MCF-7_Human1.83374177
24TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.83234052
25EGR1_19374776_ChIP-ChIP_THP-1_Human1.73652181
26TP53_16413492_ChIP-PET_HCT116_Human1.72875924
27* PPAR_26484153_Chip-Seq_NCI-H1993_Human1.68689766
28TP53_18474530_ChIP-ChIP_U2OS_Human1.60105776
29* EED_16625203_ChIP-ChIP_MESCs_Mouse1.59054448
30RBPJ_22232070_ChIP-Seq_NCS_Mouse1.58239356
31SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.57784169
32ELK3_25401928_ChIP-Seq_HUVEC_Human1.53747392
33ESR1_21235772_ChIP-Seq_MCF-7_Human1.51818478
34SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.48786747
35SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.48786747
36* RNF2_18974828_ChIP-Seq_MESCs_Mouse1.47499654
37* EZH2_18974828_ChIP-Seq_MESCs_Mouse1.47499654
38P300_27058665_Chip-Seq_ZR-75-30cells_Human1.44169790
39SMC1_22415368_ChIP-Seq_MEFs_Mouse1.44099926
40SOX9_24532713_ChIP-Seq_HFSC_Mouse1.42897046
41* TBX20_22328084_ChIP-Seq_HEART_Mouse1.41935908
42* TBX20_22080862_ChIP-Seq_HEART_Mouse1.41935908
43ZNF217_24962896_ChIP-Seq_MCF-7_Human1.41623687
44PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.39666303
45TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.37250320
46ESR2_21235772_ChIP-Seq_MCF-7_Human1.36612763
47* SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.35960603
48MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.35644503
49FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.34527490
50GATA2_21666600_ChIP-Seq_HMVEC_Human1.34144777
51JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.34025836
52JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.33660188
53UBF1/2_26484160_Chip-Seq_HMECs_Human1.32426847
54TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.31761444
55SALL4_18804426_ChIP-ChIP_XEN_Mouse1.30855504
56PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.30521250
57* TP53_20018659_ChIP-ChIP_R1E_Mouse1.30185120
58STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.28252327
59BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.27419726
60* SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.27350290
61* SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.26679149
62* ISL1_27105846_Chip-Seq_CPCs_Mouse1.25414445
63FOXO3_23340844_ChIP-Seq_DLD1_Human1.24863877
64* SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.21882806
65DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.21130682
66TP53_23651856_ChIP-Seq_MEFs_Mouse1.20659171
67NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.20595370
68* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.19465241
69NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.18693309
70* RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.16373626
71* HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.15248995
72NFIB_24661679_ChIP-Seq_LUNG_Mouse1.15090353
73* MTF2_20144788_ChIP-Seq_MESCs_Mouse1.14607287
74SOX2_20726797_ChIP-Seq_SW620_Human1.13506249
75GBX2_23144817_ChIP-Seq_PC3_Human1.13474924
76KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.11295511
77ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.08842855
78AHR_22903824_ChIP-Seq_MCF-7_Human1.06566302
79SA1_22415368_ChIP-Seq_MEFs_Mouse1.06277206
80TCF4_18268006_ChIP-ChIP_LS174T_Human1.06107147
81ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.04555467
82* PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.04042311
83KDM2B_26808549_Chip-Seq_SUP-B15_Human1.03721755
84TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.03398851
85PIAS1_25552417_ChIP-Seq_VCAP_Human1.02550156
86PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.02389346
87SMC3_22415368_ChIP-Seq_MEFs_Mouse1.02203704
88UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.02077160
89WT1_25993318_ChIP-Seq_PODOCYTE_Human1.01936551
90TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.01821221
91TP53_22127205_ChIP-Seq_IMR90_Human1.00956649
92ZFP281_18757296_ChIP-ChIP_E14_Mouse0.99803291
93RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.99614094
94THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.98432834
95SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.98431140
96ATF3_27146783_Chip-Seq_COLON_Human0.97973492
97FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.97350222
98ESR1_15608294_ChIP-ChIP_MCF-7_Human0.97071575
99NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.96744387
100CTNNB1_20460455_ChIP-Seq_HCT116_Human0.96388363
101SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.95851598
102Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.95694284
103TBX3_20139965_ChIP-Seq_ESCs_Mouse0.94459421
104ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.94355639
105TBX3_20139965_ChIP-Seq_MESCs_Mouse0.94282696
106ESR1_20079471_ChIP-ChIP_T-47D_Human0.93883491
107ARNT_22903824_ChIP-Seq_MCF-7_Human0.93089007
108SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.93079165
109* RNF2_27304074_Chip-Seq_ESCs_Mouse0.92537978
110ZFP281_27345836_Chip-Seq_ESCs_Mouse0.91621664
111PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.91541171
112AR_21572438_ChIP-Seq_LNCaP_Human0.91238996
113* JARID2_20075857_ChIP-Seq_MESCs_Mouse0.90322360
114* TP63_23658742_ChIP-Seq_EP156T_Human0.87237703
115PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.86921091
116* SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.86295117
117BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.86272490
118NFI_21473784_ChIP-Seq_ESCs_Mouse0.85831027

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1* MP0008438_abnormal_cutaneous_collagen9.43850653
2* MP0005275_abnormal_skin_tensile6.00894374
3* MP0005503_abnormal_tendon_morphology5.27862461
4MP0004272_abnormal_basement_membrane3.62034698
5* MP0003279_aneurysm3.56963559
6* MP0001958_emphysema2.95289490
7* MP0003705_abnormal_hypodermis_morpholog2.92788012
8MP0009384_cardiac_valve_regurgitation2.66577410
9MP0005623_abnormal_meninges_morphology2.49724704
10MP0006054_spinal_hemorrhage2.47425706
11MP0005257_abnormal_intraocular_pressure2.22515986
12* MP0002060_abnormal_skin_morphology2.12872049
13* MP0005508_abnormal_skeleton_morphology2.08844670
14MP0003566_abnormal_cell_adhesion1.97193603
15* MP0002108_abnormal_muscle_morphology1.94527956
16MP0000751_myopathy1.93143365
17MP0010368_abnormal_lymphatic_system1.81636717
18MP0010352_gastrointestinal_tract_polyps1.74203241
19MP0005023_abnormal_wound_healing1.71236361
20MP0003385_abnormal_body_wall1.69180154
21MP0003091_abnormal_cell_migration1.57887550
22MP0010030_abnormal_orbit_morphology1.55917486
23* MP0002295_abnormal_pulmonary_circulatio1.53489038
24* MP0009250_abnormal_appendicular_skeleto1.49997876
25MP0002896_abnormal_bone_mineralization1.49377661
26MP0000767_abnormal_smooth_muscle1.43886199
27MP0001299_abnormal_eye_distance/1.43128100
28MP0000733_abnormal_muscle_development1.42336532
29MP0000013_abnormal_adipose_tissue1.42202029
30* MP0001243_abnormal_dermal_layer1.36858075
31MP0004858_abnormal_nervous_system1.33492913
32MP0003045_fibrosis1.31877728
33MP0003283_abnormal_digestive_organ1.25829371
34MP0001542_abnormal_bone_strength1.24525696
35MP0009053_abnormal_anal_canal1.24110690
36MP0000428_abnormal_craniofacial_morphol1.23646178
37MP0003115_abnormal_respiratory_system1.20828518
38MP0002932_abnormal_joint_morphology1.19730735
39MP0002933_joint_inflammation1.19422420
40MP0000750_abnormal_muscle_regeneration1.18696991
41MP0004084_abnormal_cardiac_muscle1.14340635
42* MP0005390_skeleton_phenotype1.10788422
43MP0000534_abnormal_ureter_morphology1.09991136
44MP0003942_abnormal_urinary_system1.08310352
45MP0001879_abnormal_lymphatic_vessel1.06782843
46* MP0002115_abnormal_skeleton_extremities1.03446426
47* MP0000163_abnormal_cartilage_morphology1.02440531
48MP0005076_abnormal_cell_differentiation1.01894152
49MP0003300_gastrointestinal_ulcer1.00808675
50MP0000003_abnormal_adipose_tissue0.98348885
51MP0003941_abnormal_skin_development0.97726916
52MP0002837_dystrophic_cardiac_calcinosis0.94481942
53MP0002113_abnormal_skeleton_development0.93723810
54* MP0002128_abnormal_blood_circulation0.90397895
55MP0003935_abnormal_craniofacial_develop0.88749658
56MP0003755_abnormal_palate_morphology0.88356999
57* MP0002168_other_aberrant_phenotype0.87215042
58MP0000762_abnormal_tongue_morphology0.86803217
59MP0004145_abnormal_muscle_electrophysio0.85011878
60MP0005164_abnormal_response_to0.84922593
61* MP0002282_abnormal_trachea_morphology0.84249221
62* MP0004087_abnormal_muscle_fiber0.83300516
63* MP0001614_abnormal_blood_vessel0.83121617
64MP0006138_congestive_heart_failure0.82244281
65MP0002109_abnormal_limb_morphology0.80645224
66MP0000432_abnormal_head_morphology0.80373224
67MP0000462_abnormal_digestive_system0.80039583
68* MP0000759_abnormal_skeletal_muscle0.79379650
69MP0002089_abnormal_postnatal_growth/wei0.79159887
70MP0005330_cardiomyopathy0.78593871
71MP0001348_abnormal_lacrimal_gland0.78366635
72MP0002925_abnormal_cardiovascular_devel0.78301608
73MP0000049_abnormal_middle_ear0.77173970
74MP0000749_muscle_degeneration0.77002123
75* MP0005369_muscle_phenotype0.76720406
76MP0001849_ear_inflammation0.75697896
77MP0002249_abnormal_larynx_morphology0.73578766
78MP0003937_abnormal_limbs/digits/tail_de0.73262484
79MP0008775_abnormal_heart_ventricle0.72568727
80MP0010630_abnormal_cardiac_muscle0.71899745
81MP0004036_abnormal_muscle_relaxation0.70804868
82* MP0004134_abnormal_chest_morphology0.70140944
83* MP0002116_abnormal_craniofacial_bone0.70069433
84* MP0001175_abnormal_lung_morphology0.69699613
85* MP0002133_abnormal_respiratory_system0.69389257
86* MP0005388_respiratory_system_phenotype0.69389257
87MP0003950_abnormal_plasma_membrane0.69258764
88MP0001177_atelectasis0.68713242
89MP0001915_intracranial_hemorrhage0.68695431
90MP0000537_abnormal_urethra_morphology0.67182490
91MP0004233_abnormal_muscle_weight0.67078486
92* MP0002114_abnormal_axial_skeleton0.67056049
93MP0002877_abnormal_melanocyte_morpholog0.66996366
94* MP0002998_abnormal_bone_remodeling0.66868343
95MP0002233_abnormal_nose_morphology0.66756078
96MP0003828_pulmonary_edema0.66085561
97MP0001661_extended_life_span0.65585840
98MP0005165_increased_susceptibility_to0.65582741
99MP0003795_abnormal_bone_structure0.65304178
100MP0009780_abnormal_chondrocyte_physiolo0.65050824
101MP0000516_abnormal_urinary_system0.65037530
102MP0005367_renal/urinary_system_phenotyp0.65037530
103MP0005193_abnormal_anterior_eye0.64549613
104MP0005375_adipose_tissue_phenotype0.64165384
105MP0002697_abnormal_eye_size0.62528722
106MP0003448_altered_tumor_morphology0.62109139
107MP0002111_abnormal_tail_morphology0.61514778
108* MP0000266_abnormal_heart_morphology0.61368579
109* MP0005595_abnormal_vascular_smooth0.59261294
110MP0005620_abnormal_muscle_contractility0.59190315
111MP0005197_abnormal_uvea_morphology0.58517427
112MP0000747_muscle_weakness0.54470892
113MP0000467_abnormal_esophagus_morphology0.54343538
114MP0003191_abnormal_cellular_cholesterol0.53085603
115MP0002269_muscular_atrophy0.51751860
116MP0001533_abnormal_skeleton_physiology0.48848092

Predicted human phenotypes

RankGene SetZ-score
1* Protrusio acetabuli (HP:0003179)8.68555901
2Premature rupture of membranes (HP:0001788)8.55063272
3Ankle contracture (HP:0006466)5.81882894
4Soft skin (HP:0000977)5.27741022
5* Aortic dissection (HP:0002647)5.00592286
6Peritonitis (HP:0002586)4.98709560
7Atrophic scars (HP:0001075)4.98674742
8Cerebral aneurysm (HP:0004944)4.67428333
9Bladder diverticulum (HP:0000015)4.64963516
10Fragile skin (HP:0001030)4.55952287
11Type 1 muscle fiber predominance (HP:0003803)4.45850202
12Follicular hyperkeratosis (HP:0007502)4.42452542
13* Shallow orbits (HP:0000586)4.22662180
14Wrist flexion contracture (HP:0001239)4.12804722
15* Dilatation of the ascending aorta (HP:0005111)3.97843322
16Increased connective tissue (HP:0009025)3.93472602
17Spinal rigidity (HP:0003306)3.88584545
18Abnormality of dentin (HP:0010299)3.85724997
19Cervical subluxation (HP:0003308)3.85159040
20* Mitral valve prolapse (HP:0001634)3.64308744
21* Broad metatarsal (HP:0001783)3.61190760
22Blue sclerae (HP:0000592)3.57551835
23Wormian bones (HP:0002645)3.54963693
24Slender build (HP:0001533)3.51431107
25Neonatal short-limb short stature (HP:0008921)3.42807774
26* Genu recurvatum (HP:0002816)3.31017012
27Bowel diverticulosis (HP:0005222)3.26683847
28Biconcave vertebral bodies (HP:0004586)3.25088384
29* Aortic aneurysm (HP:0004942)3.18476444
30Vertebral compression fractures (HP:0002953)3.14264438
31Increased variability in muscle fiber diameter (HP:0003557)3.05031048
32Mildly elevated creatine phosphokinase (HP:0008180)2.99412485
33Infantile muscular hypotonia (HP:0008947)2.98226293
34* Hyperextensible skin (HP:0000974)2.86562848
35Abnormal delivery (HP:0001787)2.83335676
36Joint laxity (HP:0001388)2.77948884
37Vascular tortuosity (HP:0004948)2.74444658
38Abnormality of skeletal muscle fiber size (HP:0012084)2.66232054
39Short 4th metacarpal (HP:0010044)2.66174441
40Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.66174441
41Wide anterior fontanel (HP:0000260)2.62148585
42Osteolytic defects of the phalanges of the hand (HP:0009771)2.60242083
43Osteolytic defects of the hand bones (HP:0009699)2.60242083
44Elbow flexion contracture (HP:0002987)2.59437049
45* Aortic regurgitation (HP:0001659)2.45252998
46Abnormality of the peritoneum (HP:0002585)2.44597682
47Deviation of the hallux (HP:0010051)2.44571215
48Venous insufficiency (HP:0005293)2.41762019
49Absent frontal sinuses (HP:0002688)2.40930245
50* Ectopia lentis (HP:0001083)2.39542104
51Venous abnormality (HP:0002624)2.36167334
52Hallux valgus (HP:0001822)2.35739168
53Arterial tortuosity (HP:0005116)2.35678548
54Bell-shaped thorax (HP:0001591)2.33554014
55* Aneurysm (HP:0002617)2.32231588
56Abnormality of the 4th metacarpal (HP:0010012)2.27848807
57* Spondylolisthesis (HP:0003302)2.22931740
58* Abnormality of the acetabulum (HP:0003170)2.22376196
59* Overgrowth (HP:0001548)2.20813795
60Buphthalmos (HP:0000557)2.20514048
61Muscle fiber splitting (HP:0003555)2.17932950
62Tibial bowing (HP:0002982)2.16355283
63Mesomelia (HP:0003027)2.15634812
64Syringomyelia (HP:0003396)2.13539574
65Spinal cord lesions (HP:0100561)2.13539574
66Hip contracture (HP:0003273)2.12290822
67Nonimmune hydrops fetalis (HP:0001790)2.11492408
68Breech presentation (HP:0001623)2.10951463
69Ulnar bowing (HP:0003031)2.06285521
70Alopecia of scalp (HP:0002293)2.02967176
71Inguinal hernia (HP:0000023)2.02434281
72* Aortic valve stenosis (HP:0001650)1.99781373
73Coxa vara (HP:0002812)1.94201565
74Knee flexion contracture (HP:0006380)1.94129398
75Protruding ear (HP:0000411)1.93683610
76Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.93585779
77* Osteoarthritis (HP:0002758)1.93560888
78* Joint stiffness (HP:0001387)1.92639357
79Hypoventilation (HP:0002791)1.92510700
80Coronal craniosynostosis (HP:0004440)1.92153417
81Generalized amyotrophy (HP:0003700)1.91702705
82Renal duplication (HP:0000075)1.89702504
83Deformed tarsal bones (HP:0008119)1.89614293
84Ulnar deviation of the wrist (HP:0003049)1.88359195
85Thin skin (HP:0000963)1.88081221
86Congenital glaucoma (HP:0001087)1.86022700
87Redundant skin (HP:0001582)1.85120440
88Limited hip movement (HP:0008800)1.84890813
89Natal tooth (HP:0000695)1.84714948
90Flared iliac wings (HP:0002869)1.82992099
91* Mitral regurgitation (HP:0001653)1.82288584
92Asymmetry of the thorax (HP:0001555)1.81708954
93Morphological abnormality of the middle ear (HP:0008609)1.80825008
94Short nail (HP:0001799)1.79807961
95* Camptodactyly of toe (HP:0001836)1.79591313
96Limb-girdle muscle weakness (HP:0003325)1.79062983
97Delayed closure of the anterior fontanelle (HP:0001476)1.78337721
98Decreased skull ossification (HP:0004331)1.78264126
99Cupped ribs (HP:0000887)1.77023772
100Osteopenia (HP:0000938)1.76766895
101Increased density of long bones (HP:0006392)1.74900435
102Scapular winging (HP:0003691)1.73476881
103Thoracolumbar scoliosis (HP:0002944)1.73448351
104Femoral bowing (HP:0002980)1.73326518
105Calcaneovalgus deformity (HP:0001848)1.72595573
106Mild short stature (HP:0003502)1.71800252
107Radial bowing (HP:0002986)1.71638959
108* Broad long bones (HP:0005622)1.70536899
109* Striae distensae (HP:0001065)1.69510985
110Increased corneal curvature (HP:0100692)1.67976841
111Keratoconus (HP:0000563)1.67976841
112Delayed cranial suture closure (HP:0000270)1.66720303
113Persistence of primary teeth (HP:0006335)1.66525242
114Difficulty climbing stairs (HP:0003551)1.66100790
115Tarsal synostosis (HP:0008368)1.64915474
116Abnormality of skull ossification (HP:0002703)1.63063802
117Pulmonary artery stenosis (HP:0004415)1.62065657
118Bowed forearm bones (HP:0003956)1.60520519

Predicted kinase interactions (KEA)

RankGene SetZ-score
1DDR25.17463284
2TTN4.54300532
3PDGFRA4.15442024
4TRIB33.85281819
5LATS13.40916095
6SIK13.01357950
7PKN22.56751812
8LATS22.56418845
9RIPK12.40364947
10EPHA32.20621191
11EPHB22.07641377
12TGFBR21.97729967
13ERN11.92560246
14AKT31.80266091
15PAK21.77132756
16SCYL21.76310571
17FER1.74997304
18DMPK1.71626519
19PDGFRB1.60469701
20TIE11.55760541
21TRPM71.54825687
22STK31.54325534
23STK381.53074958
24PIK3CA1.51353112
25BMX1.47241237
26FRK1.47075381
27FGFR21.47045144
28PTK21.47003172
29CAMK1D1.35442403
30FGFR11.34510839
31PAK31.33082256
32PTK61.31342403
33PTK2B1.27228123
34MYLK1.26664637
35PAK41.18860016
36MET1.18492817
37NEK91.16230673
38MTOR1.14809352
39ROCK11.09688465
40MAP3K61.09489244
41LRRK21.03905001
42PAK61.00569974
43MAPK70.98733910
44CAMK1G0.93317681
45EPHB10.91435496
46JAK10.88829874
47ILK0.88392306
48PRKCH0.86995501
49FGFR30.84916769
50PLK20.84687444
51MUSK0.82968546
52RPS6KA40.80679157
53MAP3K100.79716840
54TGFBR10.78399119
55MOS0.78285883
56EEF2K0.77207829
57MELK0.73236252
58PRKD20.72788336
59PRKD10.71013159
60FGFR40.69464437
61STK38L0.68897953
62FLT30.68651940
63RET0.68322965
64LMTK20.68158479
65ROCK20.67303381
66INSR0.65036300
67NTRK10.63287632
68MAP2K10.61344852
69ERBB30.60569009
70NUAK10.60241932
71CLK10.59597001
72KIT0.56524647
73PIK3CG0.56137709
74KDR0.54075958
75CDK60.53048209
76PDK30.52931271
77PDK40.52931271
78CDK120.52837843
79CDC42BPA0.50651342
80OBSCN0.50573469
81TESK10.49117697
82PRKD30.48391563
83LIMK10.47667519
84CDK80.47253896
85SRC0.44016885
86PIM20.43777937
87CAMK2G0.41906922
88ADRBK10.40863467
89MAPKAPK30.39979023
90PDK20.39794213
91ABL20.39259516
92PRKCE0.37100863
93GSK3A0.36846851
94MAP3K30.36381938
95WNK10.35676327
96ICK0.35426186
97ZAK0.35249653
98MARK20.35018152
99RPS6KC10.34942323
100RPS6KL10.34942323
101IGF1R0.34031286
102MAPK10.30466450
103MAP3K120.28405650
104TYK20.27935351
105PAK10.27190272
106ZAP700.27190253
107MAPKAPK50.26884581
108JAK30.26639107
109KSR20.26475651
110MAP3K70.25796962
111ERBB40.24888951
112MAPK40.24852701
113CAMK2D0.24659239
114GRK70.24553073
115DAPK30.24542565
116ERBB20.24067599
117MST1R0.23816916
118PRKG20.23714737
119MAPK110.23710995
120GRK50.23685768
121MAP2K30.22602764
122CSF1R0.21750924
123ABL10.20665650
124EPHA20.20473100
125RPS6KA20.19162308

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045125.42435863
2Focal adhesion_Homo sapiens_hsa045103.49188141
3Protein digestion and absorption_Homo sapiens_hsa049743.31958401
4Amoebiasis_Homo sapiens_hsa051462.58784261
5Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.46742647
6Dilated cardiomyopathy_Homo sapiens_hsa054142.42953520
7Proteoglycans in cancer_Homo sapiens_hsa052052.36397221
8Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.35466333
9Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.31000670
10AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049332.27328625
11Malaria_Homo sapiens_hsa051442.21243676
12Adherens junction_Homo sapiens_hsa045202.17174651
13Small cell lung cancer_Homo sapiens_hsa052222.16594913
14TGF-beta signaling pathway_Homo sapiens_hsa043501.95291481
15Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.86493925
16PI3K-Akt signaling pathway_Homo sapiens_hsa041511.82399902
17MicroRNAs in cancer_Homo sapiens_hsa052061.75955880
18Basal cell carcinoma_Homo sapiens_hsa052171.68370268
19Bladder cancer_Homo sapiens_hsa052191.60799101
20Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.60186561
21Hippo signaling pathway_Homo sapiens_hsa043901.58540671
22Viral myocarditis_Homo sapiens_hsa054161.50185379
23Hedgehog signaling pathway_Homo sapiens_hsa043401.42381170
24Melanoma_Homo sapiens_hsa052181.41032032
25Chronic myeloid leukemia_Homo sapiens_hsa052201.35958977
26Regulation of actin cytoskeleton_Homo sapiens_hsa048101.32258520
27Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.30385650
28Platelet activation_Homo sapiens_hsa046111.20120350
29Pathways in cancer_Homo sapiens_hsa052001.17985919
30Toxoplasmosis_Homo sapiens_hsa051451.16564019
31Leukocyte transendothelial migration_Homo sapiens_hsa046701.15880057
32Prostate cancer_Homo sapiens_hsa052151.10594102
33Glioma_Homo sapiens_hsa052141.06573139
34Pancreatic cancer_Homo sapiens_hsa052121.03896185
35Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.03011853
36Rap1 signaling pathway_Homo sapiens_hsa040151.02413007
37Tight junction_Homo sapiens_hsa045301.02116392
38Axon guidance_Homo sapiens_hsa043600.99821242
39Wnt signaling pathway_Homo sapiens_hsa043100.98324002
40Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.96697849
41Central carbon metabolism in cancer_Homo sapiens_hsa052300.95752660
42Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.95304172
43Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.88566544
44p53 signaling pathway_Homo sapiens_hsa041150.86732144
45Other glycan degradation_Homo sapiens_hsa005110.85828358
46TNF signaling pathway_Homo sapiens_hsa046680.83119344
47Insulin resistance_Homo sapiens_hsa049310.82594114
48HTLV-I infection_Homo sapiens_hsa051660.81206913
49Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.78588207
50Colorectal cancer_Homo sapiens_hsa052100.76370247
51HIF-1 signaling pathway_Homo sapiens_hsa040660.74927714
52Shigellosis_Homo sapiens_hsa051310.74747772
53mTOR signaling pathway_Homo sapiens_hsa041500.74684854
54Melanogenesis_Homo sapiens_hsa049160.72705915
55Phagosome_Homo sapiens_hsa041450.70940619
56Renal cell carcinoma_Homo sapiens_hsa052110.70684918
57Ovarian steroidogenesis_Homo sapiens_hsa049130.69990118
58Estrogen signaling pathway_Homo sapiens_hsa049150.69652607
59Complement and coagulation cascades_Homo sapiens_hsa046100.68723817
60Renin-angiotensin system_Homo sapiens_hsa046140.67407240
61Gap junction_Homo sapiens_hsa045400.66416376
62Vascular smooth muscle contraction_Homo sapiens_hsa042700.66394582
63Longevity regulating pathway - mammal_Homo sapiens_hsa042110.66230228
64Endometrial cancer_Homo sapiens_hsa052130.66217369
65Notch signaling pathway_Homo sapiens_hsa043300.66208747
66AMPK signaling pathway_Homo sapiens_hsa041520.65647721
67Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.65352321
68Thyroid hormone signaling pathway_Homo sapiens_hsa049190.65287981
69cGMP-PKG signaling pathway_Homo sapiens_hsa040220.64223068
70Salmonella infection_Homo sapiens_hsa051320.63892380
71Adipocytokine signaling pathway_Homo sapiens_hsa049200.63303208
72Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.62802465
73Hepatitis B_Homo sapiens_hsa051610.59167035
74Vibrio cholerae infection_Homo sapiens_hsa051100.56296639
75Lysine degradation_Homo sapiens_hsa003100.56077184
76Ras signaling pathway_Homo sapiens_hsa040140.55803157
77FoxO signaling pathway_Homo sapiens_hsa040680.55309050
78Pertussis_Homo sapiens_hsa051330.55247124
79Phospholipase D signaling pathway_Homo sapiens_hsa040720.53914096
80Thyroid hormone synthesis_Homo sapiens_hsa049180.53586351
81GnRH signaling pathway_Homo sapiens_hsa049120.53337223
82Renin secretion_Homo sapiens_hsa049240.53039147
83Insulin signaling pathway_Homo sapiens_hsa049100.52585001
84Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.51138909
85Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.50072342
86Neurotrophin signaling pathway_Homo sapiens_hsa047220.49378191
87Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.48133904
88Viral carcinogenesis_Homo sapiens_hsa052030.47649604
89VEGF signaling pathway_Homo sapiens_hsa043700.47286817
90Sulfur metabolism_Homo sapiens_hsa009200.47282824
91Endocytosis_Homo sapiens_hsa041440.47262345
92Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.44666567
93MAPK signaling pathway_Homo sapiens_hsa040100.42376197
94Lysosome_Homo sapiens_hsa041420.41969590
95Aldosterone synthesis and secretion_Homo sapiens_hsa049250.41568911
96Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.41310258
97Apoptosis_Homo sapiens_hsa042100.40430170
98Glycosaminoglycan degradation_Homo sapiens_hsa005310.39753510
99Choline metabolism in cancer_Homo sapiens_hsa052310.39327760
100Prion diseases_Homo sapiens_hsa050200.39112941
101Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.39110251
102Prolactin signaling pathway_Homo sapiens_hsa049170.38720647
103Cocaine addiction_Homo sapiens_hsa050300.38166363
104Dorso-ventral axis formation_Homo sapiens_hsa043200.37718367
105Glucagon signaling pathway_Homo sapiens_hsa049220.36709378
106Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.35766250
107Calcium signaling pathway_Homo sapiens_hsa040200.34968325
108N-Glycan biosynthesis_Homo sapiens_hsa005100.34647845
109PPAR signaling pathway_Homo sapiens_hsa033200.34296684
110Oxytocin signaling pathway_Homo sapiens_hsa049210.34112117
111Leishmaniasis_Homo sapiens_hsa051400.33885127
112Non-small cell lung cancer_Homo sapiens_hsa052230.33874014
113Sphingolipid signaling pathway_Homo sapiens_hsa040710.33014107
114Osteoclast differentiation_Homo sapiens_hsa043800.32916266
115Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.32706149
116Thyroid cancer_Homo sapiens_hsa052160.31359572

Most similar genes based on co-expression Upload to Enrichr

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