AutismKB 2.0

Variant Details for CDH11


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Basic Information Top
Gene Symbol:CDH11 ( CAD11,CDHOB,OB,OSF-4 )
Gene Full Name: cadherin 11, type 2, OB-cadherin (osteoblast)
Band: 16q21
Quick LinksEntrez ID:1009; OMIM: 600023; Uniprot ID:CAD11_HUMAN; ENSEMBL ID: ENSG00000140937; HGNC ID: 1750
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 2 0 0 3 0 0 5
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0000275 16 16q13-22 55942499 74742499 18800000 loss external link Wassink, 2001
AutCNV0004825 16 16q21 64499756 65004806 505050 loss external link Crepel A, 2014
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
16 65016165 C G Y Cukier HN, 2014
16 63362431 TA CT Doan RN, 2016
16 63850387 G A Doan RN, 2016
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!




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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