AutismKB 2.0

Annotation Detail for GABRB1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:GABRB1 ( - )
Gene Full Name: gamma-aminobutyric acid (GABA) A receptor, beta 1
Band: 4p12
Quick LinksEntrez ID:2560; OMIM: 137190; Uniprot ID:GBRB1_HUMAN; ENSEMBL ID: ENSG00000163288; HGNC ID: 4081
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
105N-linked (GlcNAc...) (Potential).
174N-linked (GlcNAc...) (Potential).
448Phosphoserine.
Location(AA) Modifications Resource
105N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
174N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
434Phosphoserine (PKA
Location(AA) Modification Resource
105N-linkedHMM predict
110N-linkedHMM predict
174N-linkedHMM predict
285O-linkedHMM predict
291Phosphothreonine(CDK)HMM predict
302Phosphotyrosine(Jak)HMM predict
376N-linkedHMM predict
386Phosphoserine(IKK)HMM predict
434Phosphoserine(PKG)HMM predict
434Phosphoserine(CAMK2)HMM predict
434PhosphoserineHMM predict
434Phosphoserine(PKA)HMM predict
434Phosphoserine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000812
  • Location:chr4 46728335-47123201
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K4me3 colorectalcancer 46728120 46728335 215 108
Oct1 HelaGSE14283 46720252 46720284 32 8068
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 46979968 46980182 214 0
CTCF CD4GSE12889 46729449 46729723 274 0
CTCF CD4SISSRdata 46729449 46729723 274 0
CTCF G2GSE9613 46729427 46729813 386 0
ER E2-MCF7GSE14664 46739905 46739959 54 0
ER E2-MCF7GSE14664 46851903 46851993 90 0
ER E2-MCF7GSE14664 46997057 46997099 42 0
ER E2-MCF7GSE14664 46999822 46999854 32 0
ER E2-MCF7GSE14664 47118227 47118279 52 0
ER Fulvestrant-MCF7GSE14664 46997056 46997094 38 0
ER Fulvestrant-MCF7GSE14664 47118225 47118278 53 0
Nanog ESGSE20650 46747766 46748160 394 0
Nanog ESGSE20650 46991356 46991629 273 0
Nanog hESGSE18292 46747876 46748130 254 0
Oct1 H2O2-HelaGSE14283 46808111 46808148 37 0
Oct1 H2O2-HelaGSE14283 46814178 46814212 34 0
Oct1 H2O2-HelaGSE14283 46829015 46829041 26 0
Oct1 H2O2-HelaGSE14283 46928934 46928963 29 0
Oct1 HelaGSE14283 46742618 46742646 28 0
Oct1 HelaGSE14283 46790473 46790502 29 0
Oct1 HelaGSE14283 46797646 46797682 36 0
Oct1 HelaGSE14283 46808108 46808154 46 0
Oct1 HelaGSE14283 46814178 46814212 34 0
Oct1 HelaGSE14283 46888743 46888774 31 0
Oct1 HelaGSE14283 46928934 46928964 30 0
Oct1 HelaGSE14283 46936382 46936423 41 0
Oct1 HelaGSE14283 46939321 46939368 47 0
Oct1 HelaGSE14283 46962427 46962459 32 0
Oct1 HelaGSE14283 46970881 46970923 42 0
Oct1 HelaGSE14283 46997058 46997098 40 0
Oct1 HelaGSE14283 46999816 46999854 38 0
Oct1 HelaGSE14283 47040768 47040829 61 0
Oct1 HelaGSE14283 47041185 47041216 31 0
Oct1 HelaGSE14283 47046478 47046543 65 0
Oct1 HelaGSE14283 47081523 47081585 62 0
Oct1 HelaGSE14283 47118227 47118278 51 0
RNAII Tamoxifen-MCF7GSE14664 46970882 46970916 34 0
Rb GrowingGSE19898 46870964 46871149 185 0
hScc1 BcellGSE12603 46729135 46729956 821 0
hScc1 CdLSGSE12603 46729157 46730002 845 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
19638 mRNA GABRB1 chr4 46874506 47269373 16399 EST chr4 46938552 46954951 Non-exonic Bidirectional (NOB) pairs

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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved