AutismKB 2.0

Annotation Detail for HBZ


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Basic Information Top
Gene Symbol:HBZ ( - )
Gene Full Name: hemoglobin, zeta
Band: 16p13.3
Quick LinksEntrez ID:3050; OMIM: 142310; Uniprot ID:HBAZ_HUMAN; ENSEMBL ID: ENSG00000130656; HGNC ID: 4835
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylserine.
Location(AA) Modifications Resource
2N-acetylserine.Swiss-Prot 53.0
Location(AA) Modification Resource
43Phosphotyrosine(Jak)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005332
  • Location:chr16 142853-144503
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K27me3 colorectalcancer 142222 142362 140 562
TFAP2C MCF7GSE21234 138561 139682 1121 3732
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 149599 150438 839 5515
H3K27me3 colorectalcancer 149419 150736 1317 5574
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K27me3 colorectalcancer 142980 143442 462 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