AutismKB 2.0

Annotation Detail for GBA3


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Basic Information Top
Gene Symbol:GBA3 ( CBGL1,GLUC,KLrP,MGC104276,MGC126878 )
Gene Full Name: glucosidase, beta, acid 3 (cytosolic)
Band: 4p15.2
Quick LinksEntrez ID:57733; OMIM: 606619; Uniprot ID:GBA3_HUMAN; ENSEMBL ID: ENSG00000249948; HGNC ID: 19069
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
46N-linkedHMM predict
236Phosphoserine(IKK)HMM predict
238PhosphoserineHMM predict
276Phosphoserine(ATM)HMM predict
281Phosphotyrosine(EGFR)HMM predict
290Phosphothreonine(CK2)HMM predict
379Phosphoserine(ATM)HMM predict
456Phosphotyrosine(INSR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_020973
  • Location:chr4 22303687-22430288
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 22283691 22284037 346 19824
CTCF G2GSE9613 22295921 22296074 153 7690
Stat6 IL-4-hr1GSE17850 22300225 22300762 537 3194
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 22432058 22432090 32 1786
Oct1 HelaGSE14283 22432392 22432427 35 2121
Oct1 HelaGSE14283 22432651 22432696 45 2385
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 22392348 22392665 317 0
Oct1 H2O2-HelaGSE14283 22337770 22337801 31 0
Oct1 H2O2-HelaGSE14283 22363144 22363178 34 0
Oct1 H2O2-HelaGSE14283 22386232 22386259 27 0
Oct1 HelaGSE14283 22316083 22316118 35 0
Oct1 HelaGSE14283 22387182 22387215 33 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