AutismKB 2.0

Annotation Detail for GABRG1


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Basic Information Top
Gene Symbol:GABRG1 ( DKFZp686H2042,MGC33838 )
Gene Full Name: gamma-aminobutyric acid (GABA) A receptor, gamma 1
Band: 4p12
Quick LinksEntrez ID:2565; OMIM: 137166; Uniprot ID:GBRG1_HUMAN; ENSEMBL ID: ENSG00000163285; HGNC ID: 4086
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
50N-linked (GlcNAc...) (Potential).
127N-linked (GlcNAc...) (Potential).
245N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
50N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
127N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
245N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
50N-linkedHMM predict
127N-linkedHMM predict
163Phosphothreonine(CDK)HMM predict
207Phosphoserine(CK1)HMM predict
218SulfotyrosineHMM predict
245N-linkedHMM predict
257Phosphotyrosine(Jak)HMM predict
312O-linkedHMM predict
323Phosphoserine(PKG)HMM predict
367Phosphothreonine(PKC)HMM predict
393N-linkedHMM predict
402SulfotyrosineHMM predict
404Phosphotyrosine(EGFR)HMM predict
404SulfotyrosineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_173536
  • Location:chr4 45732544-45820838
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 45831413 45831440 27 10588
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NRSF JurkatGSE13047 45712945 45713566 621 19289
NRSF mAbJurkat 45711083 45715189 4106 19409
NRSF mAbJurkat 45715679 45717191 1512 16110
NRSF-mono JurkatQuESTdata 45713056 45713559 503 19237
NRSF-poly JurkatQuESTdata 45713056 45713383 327 19325
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 45735119 45735185 66 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