AutismKB 2.0

Variant Details for CD69


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CD69 ( CLEC2C )
Gene Full Name: CD69 molecule
Band: 12p13.31
Quick LinksEntrez ID:969; OMIM: 107273; Uniprot ID:CD69_HUMAN; ENSEMBL ID: ENSG00000110848; HGNC ID: 1694
Relate to Another Database: SFARIGene; denovo-db
Variant Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
Genetic Category CNVs/SVs de novo Mutations Mosaics SNVs NGS Other Mutations Low-Scale Gene Mutations Linkage Regions Total
Number 4 0 0 0 0 0 4
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0000363 12 12p13.31 5429739 10108733 4678994 external link Zwaag, 2009
AutCNV0001421 12 12p13.31 9881099 9945359 64260 loss external link Pinto, 2010
AutCNV0001456 12 12p13.31 9881099 9932070 50971 loss external link Pinto, 2010
AutCNV0000745 12 12p13.31 9869271 10020267 150996 loss external link Bremer, 2011
NGS de novo Mutations Top
iFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
Chr Pos Ref Alt Coding AA Validated Method iFish Prediction iFish Probability Reference
No related data!
NGS Mosaic Mutations Top
Chr Position Ref Alt Genotype Validated Method Reference
No related data!
NGS Other Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
No related data!
Low-Scale Gene Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
No related data!
Linkage Regions Top
Linkage Name Band Chr Marker LOD NPL P Value Reference
No related 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