AutismKB 2.0

Annotation Details for BPHL


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Basic Information Top
Gene Symbol:BPHL ( BPH-RP,MCNAA,MGC125930,MGC41865,VACVASE )
Gene Full Name: biphenyl hydrolase-like (serine hydrolase)
Band: 6p25.2
Quick LinksEntrez ID:670; OMIM: 603156; Uniprot ID:BPHL_HUMAN; ENSEMBL ID: ENSG00000137274; HGNC ID: 1094
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005739ISS-mitochondrion-
GO:0005741TAS-mitochondrial outer membrane-
GO:0070062IDA-extracellular exosome23376485
GO ID Evidence Qualifier GO_term References
GO:0047658TAS-alpha-amino-acid esterase activity-
GO ID Evidence Qualifier GO_term References
GO:0006520TAS-cellular amino acid metabolic process7759552
GO:0006805TAS-xenobiotic metabolic process-
GO:0009636TAS-response to toxic substance7759552
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1915271
  • 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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