AutismKB 2.0

Annotation Details for AHSP


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Basic Information Top
Gene Symbol:AHSP ( EDRF,ERAF )
Gene Full Name: alpha hemoglobin stabilizing protein
Band: 16p11.2
Quick LinksEntrez ID:51327; OMIM: 605821; Uniprot ID:AHSP_HUMAN; ENSEMBL ID: ENSG00000169877; HGNC ID: 18075
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005833NAS-hemoglobin complex12066189
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding16189514
GO:0030492NAS-hemoglobin binding12066189
GO:0051082NAS-unfolded protein binding12066189
GO ID Evidence Qualifier GO_term References
GO:0006457IEA-protein folding-
GO:0020027NAS-hemoglobin metabolic process12066189
GO:0030097NAS-hemopoiesis12066189
GO:0030218IEA-erythrocyte differentiation-
GO:0050821IEA-protein stabilization-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
GRINL1AAHSP11947616169070 Two-hybrid
GRINL1AAHSP12349816169070 Two-hybrid
ZC3H12AAHSP11947616189514 Two-hybrid
ZC3H12AAHSP12314116189514 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
No data
No data

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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


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