AutismKB 2.0

Annotation Details for GABRP


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Basic Information Top
Gene Symbol:GABRP ( MGC126386,MGC126387 )
Gene Full Name: gamma-aminobutyric acid (GABA) A receptor, pi
Band: 5q35.1
Quick LinksEntrez ID:2568; OMIM: 602729; Uniprot ID:GBRP_HUMAN; ENSEMBL ID: ENSG00000094755; HGNC ID: 4089
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0030054IEA-cell junction-
GO:0034707IEA-chloride channel complex-
GO:0045211IEA-postsynaptic membrane-
GO:1902711IBA-GABA-A receptor complex-
GO ID Evidence Qualifier GO_term References
GO:0004890IBAcontributes_toGABA-A receptor activity-
GO:0005230IEA-extracellular ligand-gated ion channel activity-
GO:0005254IEA-chloride channel activity-
GO ID Evidence Qualifier GO_term References
GO:0007165IEA-signal transduction-
GO:1902476IEA-chloride transmembrane transport-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
No data
No data
Gene Symbol Poly Names Gene overview in SZGene
GABRPrs1063310, rs1158443, rs1812910, rs1862242, rs1895409, rs1895410, rs2216589, rs2278000, rs2303135, rs3805458, rs3805460, rs4868027, rs732157, rs7724371, rs7729540, rs7736504, rs929762, rs929763 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:2387597
  • 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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