AutismKB 2.0

Annotation Details for HPS5


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Basic Information Top
Gene Symbol:HPS5 ( AIBP63,KIAA1017 )
Gene Full Name: Hermansky-Pudlak syndrome 5
Band: 11p15.1
Quick LinksEntrez ID:11234; OMIM: 607521; Uniprot ID:HPS5_HUMAN; ENSEMBL ID: ENSG00000110756; HGNC ID: 17022
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0031084IPI-BLOC-2 complex15030569
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding25189619
GO ID Evidence Qualifier GO_term References
GO:0006996IEA-organelle organization-
GO:0007596IEA-blood coagulation-
GO:0043473IEA-pigmentation-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2180307
  • Data Attributes: MGI curated and HomoloGene calculated
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