AutismKB 2.0

Annotation Detail for BEST3


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:BEST3 ( MGC13168,MGC40411,VMD2L3 )
Gene Full Name: bestrophin 3
Band: 12q15
Quick LinksEntrez ID:144453; OMIM: 607337; Uniprot ID:BEST3_HUMAN; ENSEMBL ID: ENSG00000127325; HGNC ID: 17105
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
7O-linkedHMM predict
11N-linkedHMM predict
117Phosphoserine(ATM)HMM predict
133N-linkedHMM predict
144Phosphoserine(PKG)HMM predict
153Phosphothreonine(PKA)HMM predict
153Phosphothreonine(PKC)HMM predict
241O-linkedHMM predict
348O-linkedHMM predict
369Phosphoserine(ATM)HMM predict
371Phosphoserine(ATM)HMM predict
390Phosphoserine(CAMK2)HMM predict
407Phosphoserine(CDK)HMM predict
407Phosphoserine(CDC2)HMM predict
412Phosphoserine(PKB)HMM predict
412Phosphoserine(PKA)HMM predict
412Phosphoserine(PKG)HMM predict
417Phosphothreonine(PKA)HMM predict
417Phosphothreonine(PKC)HMM predict
418Phosphoserine(PKC)HMM predict
418Phosphoserine(CAMK2)HMM predict
418Phosphoserine(PKB)HMM predict
418Phosphoserine(IKK)HMM predict
418Phosphoserine(PKA)HMM predict
461Phosphothreonine(PKC)HMM predict
471Phosphothreonine(PKC)HMM predict
476Phosphoserine(IKK)HMM predict
479O-linkedHMM predict
479Phosphoserine(IKK)HMM predict
485Phosphothreonine(MAPK)HMM predict
489O-linkedHMM predict
493Phosphoserine(CDC2)HMM predict
525Phosphoserine(CK1)HMM predict
551Phosphoserine(ATM)HMM predict
551Phosphoserine(MAPK)HMM predict
551Phosphoserine(CDC2)HMM predict
557O-linkedHMM predict
557Phosphothreonine(CDC2)HMM predict
563Phosphoserine(CDC2)HMM predict
563O-linkedHMM predict
591Phosphoserine(PKA)HMM predict
607Phosphoserine(CDC2)HMM predict
607Phosphoserine(ATM)HMM predict
613Phosphoserine(ATM)HMM predict
624Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_032735
  • Location:chr12 68333657-68379462
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
p130 G0GSE7516 68383445 68383660 215 4090
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 68369006 68369742 736 0
P300 T30-glioblastomaGSE21026 68368887 68369785 898 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