AutismKB 2.0

Annotation Detail for HBD


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Basic Information Top
Gene Symbol:HBD ( - )
Gene Full Name: hemoglobin, delta
Band: 11p15.4
Quick LinksEntrez ID:3045; OMIM: 142000; Uniprot ID:HBD_HUMAN; ENSEMBL ID: ENSG00000223609; HGNC ID: 4829
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine; in variant Niigata.
146Phosphotyrosine.
Location(AA) Modifications Resource
2N-acetylalanine; in variant Niigata.Swiss-Prot 53.0
Location(AA) Modification Resource
5Phosphothreonine(MAPK)HMM predict
51Phosphoserine(MAPK)HMM predict
87Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000519
  • Location:chr11 5210634-5212433
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 5210903 5210937 34 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