AutismKB 2.0

Annotation Detail for GABRR1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:GABRR1 ( MGC163216 )
Gene Full Name: gamma-aminobutyric acid (GABA) receptor, rho 1
Band: 6q15
Quick LinksEntrez ID:2569; OMIM: 137161; Uniprot ID:GBRR1_HUMAN; ENSEMBL ID: ENSG00000146276; HGNC ID: 4090
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
140N-linked (GlcNAc...) (Potential).
234N-linked (GlcNAc...) (Potential).
274N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
134N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
228N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
268N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
64Phosphoserine(CDK)HMM predict
64Phosphoserine(CDC2)HMM predict
104Phosphoserine(CK1)HMM predict
240Phosphoserine(ATM)HMM predict
268N-linkedHMM predict
317O-linkedHMM predict
326N-linkedHMM predict
334Phosphotyrosine(Jak)HMM predict
341Phosphotyrosine(Jak)HMM predict
381O-linkedHMM predict
396Phosphoserine(CK2)HMM predict
406Phosphotyrosine(INSR)HMM predict
428Phosphoserine(CK1)HMM predict
429Phosphoserine(CDC2)HMM predict
429Phosphoserine(CDK)HMM predict
434Phosphoserine(IKK)HMM predict
438Phosphoserine(IKK)HMM predict
439Phosphotyrosine(INSR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002042
  • Location:chr6 89944690-89983778
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 89987598 89987776 178 3909
hScc1 BcellGSE12603 89987489 89987776 287 3854
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 89946819 89946970 151 0
FoxA1 MCF7MACSdata 89980740 89980929 189 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