AutismKB 2.0

Annotation Detail for HBG1


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Basic Information Top
Gene Symbol:HBG1 ( HBGA,HBGR,HSGGL1 )
Gene Full Name: hemoglobin, gamma A
Band: 11p15.4
Quick LinksEntrez ID:3047; OMIM: 142200; Uniprot ID:HBG1_HUMAN; ENSEMBL ID: ENSG00000213934; HGNC ID: 4831
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylglycine; in form Hb F1.
Location(AA) Modifications Resource
2N-acetylglycine; in form Hb F1.Swiss-Prot 53.0
Location(AA) Modification Resource
135ValineHMM predict
140O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000559
  • Location:chr11 5226077-5227662
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 5221122 5221152 30 4941
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
GABP HelaGSE8489 5226058 5226660 602 0
TAF k562GSE8489 5225657 5228368 2711 0
Validated miRNA targets Top
Cis-Nats regulation Top

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  (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