AutismKB 2.0

Annotation Details for KRT75


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Basic Information Top
Gene Symbol:KRT75 ( K6HF,KB18,PFB )
Gene Full Name: keratin 75
Band: 12q13.13
Quick LinksEntrez ID:9119; OMIM: 609025; Uniprot ID:K2C75_HUMAN; ENSEMBL ID: ENSG00000170454; HGNC ID: 24431
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005829TAS-cytosol-
GO:0005882IDA-intermediate filament15086549
GO:0045095IEA-keratin filament-
GO:0070062IDA-extracellular exosome23376485
GO ID Evidence Qualifier GO_term References
GO:0005198IEA-structural molecule activity-
GO ID Evidence Qualifier GO_term References
GO:0002244IEA-hematopoietic progenitor cell differentiation-
GO:0031424TAS-keratinization-
GO:0070268TAS-cornification-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1923500
  • Data Attributes: HomoloGene calculated
No data
No data

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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