AutismKB 2.0

Annotation Details for FBN3


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:FBN3 ( KIAA1776 )
Gene Full Name: fibrillin 3
Band: 19p13.2
Quick LinksEntrez ID:84467; OMIM: 608529; Uniprot ID:FBN3_HUMAN; ENSEMBL ID: ENSG00000142449; HGNC ID: 18794
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005578IEA-proteinaceous extracellular matrix-
GO:0031012IBA-extracellular matrix-
GO ID Evidence Qualifier GO_term References
GO:0005201IBA-extracellular matrix structural constituent-
GO:0005509IEA-calcium ion binding-
GO ID Evidence Qualifier GO_term References
GO:0009653IBA-anatomical structure morphogenesis-
GO:0090287IBA-regulation of cellular response to growth factor stimulus-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

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