AutismKB 2.0

Annotation Details for LRBA


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Basic Information Top
Gene Symbol:LRBA ( BGL,CDC4L,DKFZp686A09128,DKFZp686K03100,DKFZp686P2258,FLJ16600,FLJ25686,LAB300,LBA,MGC72098 )
Gene Full Name: LPS-responsive vesicle trafficking, beach and anchor containing
Band: 4q31.3
Quick LinksEntrez ID:987; OMIM: 606453; Uniprot ID:LRBA_HUMAN; ENSEMBL ID: ENSG00000198589; HGNC ID: 1742
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005764IEA-lysosome-
GO:0005783IEA-endoplasmic reticulum-
GO:0005794IEA-Golgi apparatus-
GO:0005886IEA-plasma membrane-
GO:0016020IDA-membrane19946888
GO:0016021IEA-integral component of membrane-
GO ID Evidence Qualifier GO_term References
GO:0003674ND-molecular_function-
GO ID Evidence Qualifier GO_term References
GO:0008150ND-biological_process-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
TUSC2LRBA11646217353931 Affinity Capture-MS
TUSC2LRBA10742317353931 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1933162
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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


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