AutismKB 2.0

Annotation Details for KRT83


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Basic Information Top
Gene Symbol:KRT83 ( HB3,Hb-3,KRTHB3,MGC141663 )
Gene Full Name: keratin 83
Band: 12q13.13
Quick LinksEntrez ID:3889; OMIM: 602765; Uniprot ID:KRT83_HUMAN; ENSEMBL ID: ENSG00000170523; HGNC ID: 6460
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005615IDA-extracellular space23580065
GO:0005829TAS-cytosol-
GO:0045095IEA-keratin filament-
GO ID Evidence Qualifier GO_term References
GO:0005198IEA-structural molecule activity-
GO:0005515IPI-protein binding25416956
GO ID Evidence Qualifier GO_term References
GO:0007568IDA-aging21916889
GO:0008544TAS-epidermis development9084137
GO:0031424TAS-keratinization-
GO:0042633IDA-hair cycle21916889
GO:0070268TAS-cornification-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
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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