AutismKB 2.0

Annotation Details for TCHH


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Basic Information Top
Gene Symbol:TCHH ( MGC157889,MGC157890,THH,THL,TRHY )
Gene Full Name: trichohyalin
Band: 1q21.3
Quick LinksEntrez ID:7062; OMIM: 190370; Uniprot ID:TRHY_HUMAN; ENSEMBL ID: ENSG00000159450; HGNC ID: 11791
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0001533TAS-cornified envelope-
GO:0005829TAS-cytosol-
GO:0005856NAS-cytoskeleton7686953
GO ID Evidence Qualifier GO_term References
GO:0005509TAS-calcium ion binding7685034
GO:0046914IEA-transition metal ion binding-
GO ID Evidence Qualifier GO_term References
GO:0008150ND-biological_process-
GO:0070268TAS-cornification-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
EFHD1TCHH12321617353931 Affinity Capture-MS
EFHD1TCHH11291917353931 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2177944
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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


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