AutismKB 2.0

Annotation Details for BFAR


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Basic Information Top
Gene Symbol:BFAR ( BAR,RNF47 )
Gene Full Name: bifunctional apoptosis regulator
Band: 16p13.12
Quick LinksEntrez ID:51283; OMIM: NA; Uniprot ID:BFAR_HUMAN; ENSEMBL ID: ENSG00000103429; HGNC ID: 17613
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005783IDA-endoplasmic reticulum21068390
GO:0005887NAS-integral component of plasma membrane10716992
GO:0016020IDA-membrane10716992
GO:0030176NAS-integral component of endoplasmic reticulum membrane21068390
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding21068390
GO:0030674IDA-protein binding, bridging10716992
GO:0046872IEA-metal ion binding-
GO:0061630IDA-ubiquitin protein ligase activity21068390
GO:0089720IDA-caspase binding10716992
GO ID Evidence Qualifier GO_term References
GO:0000209IDA-protein polyubiquitination21068390
GO:0006915IEA-apoptotic process-
GO:0042787IDA-protein ubiquitination involved in ubiquitin-dependent protein catabolic process21068390
GO:0043066IDA-negative regulation of apoptotic process10716992
GO:0043161IDA-proteasome-mediated ubiquitin-dependent protein catabolic process21068390
GO:0051865IDA-protein autoubiquitination21068390
GO:0070534IDA-protein K63-linked ubiquitination21068390
GO:0070936IDA-protein K48-linked ubiquitination21068390
GO:1903895IMP-negative regulation of IRE1-mediated unfolded protein response21068390
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
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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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