AutismKB 2.0

Annotation Detail for BCL2A1


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Basic Information Top
Gene Symbol:BCL2A1 ( ACC-1,ACC-2,BCL2L5,BFL1,GRS,HBPA1 )
Gene Full Name: BCL2-related protein A1
Band: 15q25.1
Quick LinksEntrez ID:597; OMIM: 601056; Uniprot ID:B2LA1_HUMAN; ENSEMBL ID: ENSG00000140379; HGNC ID: 991
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
97BH1.
147BH2.
Location(AA) Modifications Resource
Location(AA) Modification Resource
28Phosphoserine(IKK)HMM predict
33Phosphothreonine(PKC)HMM predict
115Phosphotyrosine(Syk)HMM predict
128N-linkedHMM predict
129N-linkedHMM predict
157PhenylalanineHMM predict
158PhenylalanineHMM predict
160PhenylalanineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004049
  • Location:chr15 78040289-78050697
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NFkBII GM12878GSE19485 78056093 78059306 3213 7002
NFkBII GM12878GSE19485 78069029 78070627 1598 19131
hScc1 BcellGSE12603 78056750 78057282 532 6319
hScc1 BcellGSE12603 78058550 78058809 259 7982
p130 shRbSenescentGSE19898 78058141 78058285 144 7516
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 78029110 78029514 404 10978
P300 T0-glioblastomaGSE21026 78029297 78029715 418 10784
SRF GMOGSE8489 78038112 78038318 206 2075
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 78041122 78041155 33 0
Pol2 GM12878GSE19551 78050005 78050753 748 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