AutismKB 2.0

Annotation Details for APOB48R


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Basic Information Top
Gene Symbol:APOB48R ( - )
Gene Full Name: -
Band: 16p11
Quick LinksEntrez ID:55911; OMIM: 605220; Uniprot ID:AB48R_HUMAN; ENSEMBL ID: ENSG00000184730; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886TAS-plasma membrane-
GO:0016020IDA-membrane19946888
GO:0034361IEA-very-low-density lipoprotein particle-
GO:0034362IEA-low-density lipoprotein particle-
GO:0042627IEA-chylomicron-
GO ID Evidence Qualifier GO_term References
GO:0030229IBA-very-low-density lipoprotein particle receptor activity-
GO ID Evidence Qualifier GO_term References
GO:0006641IBA-triglyceride metabolic process-
GO:0006869IEA-lipid transport-
GO:0006898IBA-receptor-mediated endocytosis-
GO:0008203IEA-cholesterol metabolic process-
GO:0034447TAS-very-low-density lipoprotein particle clearance-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2176230
  • 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