AutismKB 2.0

Annotation Detail for GABRD


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:GABRD ( EIG10,EJM7,GEFSP5,MGC45284 )
Gene Full Name: gamma-aminobutyric acid (GABA) A receptor, delta
Band: 1p36.33
Quick LinksEntrez ID:2563; OMIM: 137163; Uniprot ID:GBRD_HUMAN; ENSEMBL ID: ENSG00000187730; HGNC ID: 4084
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
103N-linked (GlcNAc...) (Potential).
106N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
103N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
106N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
103N-linkedHMM predict
106N-linkedHMM predict
187Phosphotyrosine(INSR)HMM predict
194SulfotyrosineHMM predict
348Phosphoserine(PKG)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000815
  • Location:chr1 1940702-1952049
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FoxA1 MCF7MACSdata 1923152 1923408 256 17423
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TFAP2C MCF7GSE21234 1953365 1954005 640 1636
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NRSF JurkatGSE13047 1940592 1941899 1307 0
NRSF-mono JurkatQuESTdata 1940566 1941877 1311 0
NRSF-poly JurkatQuESTdata 1940590 1941382 792 0
TFAP2C MCF7GSE21234 1944307 1944646 339 0
Validated miRNA targets Top
Cis-Nats regulation Top

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