AutismKB 2.0

Annotation Detail for GABRB3


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Basic Information Top
Gene Symbol:GABRB3 ( ECA5,MGC9051 )
Gene Full Name: gamma-aminobutyric acid (GABA) A receptor, beta 3
Band: 15q12
Quick LinksEntrez ID:2562; OMIM: 137192; Uniprot ID:GBRB3_HUMAN; ENSEMBL ID: ENSG00000166206; HGNC ID: 4083
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
33N-linked (GlcNAc...) (Potential).
105N-linked (GlcNAc...) (Potential).
174N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
33N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
105N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
174N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
40Phosphothreonine(PKC)HMM predict
105N-linkedHMM predict
110N-linkedHMM predict
174N-linkedHMM predict
201Phosphothreonine(PKC)HMM predict
285O-linkedHMM predict
302Phosphotyrosine(Jak)HMM predict
309Phosphotyrosine(Jak)HMM predict
354Phosphoserine(CK1)HMM predict
406PhosphoserineHMM predict
426Phosphothreonine(CDK)HMM predict
433Phosphoserine(PKG)HMM predict
433Phosphoserine(PKC)HMM predict
433Phosphoserine(PKA)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000814
  • Location:chr15 24339788-24569343
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 24425112 24425600 488 0
CTCF G2GSE9613 24457830 24457976 146 0
CTCF G2GSE9613 24466565 24466742 177 0
CTCF G2GSE9613 24503386 24503597 211 0
CTCF G2GSE9613 24509304 24509651 347 0
CTCF G2GSE9613 24568224 24568467 243 0
FoxA1 MCF7MACSdata 24424424 24424599 175 0
FoxA1 MCF7MACSdata 24486748 24486954 206 0
NRSF JurkatGSE13047 24567761 24568493 732 0
NRSF mAbJurkat 24565231 24566452 1221 0
NRSF mAbJurkat 24567438 24568467 1029 0
NRSF-mono JurkatQuESTdata 24567760 24568518 758 0
NRSF-poly JurkatQuESTdata 24567741 24568667 926 0
Oct1 H2O2-HelaGSE14283 24416344 24416379 35 0
Oct1 H2O2-HelaGSE14283 24451253 24451284 31 0
Oct1 H2O2-HelaGSE14283 24461196 24461249 53 0
Oct1 HelaGSE14283 24416344 24416377 33 0
Oct1 HelaGSE14283 24461198 24461249 51 0
Oct1 HelaGSE14283 24567162 24567203 41 0
Oct4 hESGSE17917 24569188 24569455 267 0
Oct4 hESGSE21916 24517470 24518033 563 0
Oct4 hESGSE21916 24563294 24564094 800 0
RNAII Tamoxifen-MCF7GSE14664 24567163 24567200 37 0
Stat6 IL-4-hr1GSE17850 24425458 24426047 589 0
TAF HelaGSE8489 24512720 24513757 1037 0
TFAP2C MCF7GSE21234 24424343 24424832 489 0
hScc1 BcellGSE12603 24360530 24360679 149 0
hScc1 BcellGSE12603 24454691 24454835 144 0
hScc1 BcellGSE12603 24466592 24466814 222 0
hScc1 BcellGSE12603 24478534 24479349 815 0
hScc1 BcellGSE12603 24513207 24513378 171 0
hScc1 BcellGSE12603 24567874 24569923 2049 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