AutismKB 2.0

Annotation Details for FBN1


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Basic Information Top
Gene Symbol:FBN1 ( FBN,MASS,MFS1,OCTD,SGS,SSKS,WMS )
Gene Full Name: fibrillin 1
Band: 15q21.1
Quick LinksEntrez ID:2200; OMIM: 134797; Uniprot ID:FBN1_HUMAN; ENSEMBL ID: ENSG00000166147; HGNC ID: 3603
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0001527IDA-microfibril1860873
GO:0005576IDA-extracellular region11461921
GO:0005576TAS-extracellular region-
GO:0005578IDA-proteinaceous extracellular matrix3536967
GO:0005604IDA-basement membrane3536967
GO:0005615IDA-extracellular space3536967
GO:0005788TAS-endoplasmic reticulum lumen-
GO:0031012IDA-extracellular matrix23658023
GO:0031012IDAcolocalizes_withextracellular matrix20551380
GO:0070062IDA-extracellular exosome23376485
GO ID Evidence Qualifier GO_term References
GO:0005178IPI-integrin binding12807887
GO:0005179IEA-hormone activity-
GO:0005201IDA-extracellular matrix structural constituent3536967
GO:0005509IDA-calcium ion binding7691719
GO:0005515IPI-protein binding12429738
GO:0008201IDA-heparin binding11461921
GO:0030023IC-extracellular matrix constituent conferring elasticity8120105
GO:0032403IPI-protein complex binding15062093
GO ID Evidence Qualifier GO_term References
GO:0001501IMP-skeletal system development8188302
GO:0001656IEA-metanephros development-
GO:0007507IMP-heart development15781745
GO:0022617TAS-extracellular matrix disassembly-
GO:0030198TAS-extracellular matrix organization-
GO:0033627IDA-cell adhesion mediated by integrin12807887
GO:0035582ISS-sequestering of BMP in extracellular matrix-
GO:0035583ISS-sequestering of TGFbeta in extracellular matrix-
GO:0043010IEP-camera-type eye development25406291
GO:0043687TAS-post-translational protein modification-
GO:0044267TAS-cellular protein metabolic process-
GO:0045671IDA-negative regulation of osteoclast differentiation24039232
GO:0048048IEP-embryonic eye morphogenesis25406291
GO:0048050IEP-post-embryonic eye morphogenesis25406291
GO:0071560IEA-cellular response to transforming growth factor beta stimulus-
GO:0090287IBA-regulation of cellular response to growth factor stimulus-
GO:1990314IEA-cellular response to insulin-like growth factor stimulus-
GO:2001205IDA-negative regulation of osteoclast development24039232
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
FBN1VCAN10849411726670 Reconstituted Complex
FBN1VCAN10784411726670 Reconstituted Complex
FBN1ELN10849410825173 Reconstituted Complex
FBN1ELN10832110825173 Reconstituted Complex
FBN1FBLN21084938702639 Reconstituted Complex
FBN1FBLN21084948702639 Reconstituted Complex
MFAP2FBN110849411481325 Reconstituted Complex
MFAP2FBN111039511481325 Reconstituted Complex
MYOCFBN110849411923248 Reconstituted Complex
MYOCFBN111073611923248 Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:95489
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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