AutismKB 2.0

Annotation Details for COL22A1


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Basic Information Top
Gene Symbol:COL22A1 ( - )
Gene Full Name: collagen, type XXII, alpha 1
Band: 8q24.23-q24.3
Quick LinksEntrez ID:169044; OMIM: 610026; Uniprot ID:COMA1_HUMAN; ENSEMBL ID: ENSG00000169436; HGNC ID: 22989
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005576TAS-extracellular region-
GO:0005578IEA-proteinaceous extracellular matrix-
GO:0005581IEA-collagen trimer-
GO:0005788TAS-endoplasmic reticulum lumen-
No data
No data
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1916950
  • 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