AutismKB 2.0

Variant Details for CNTN6


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CNTN6 ( MGC133256,NB3 )
Gene Full Name: contactin 6
Band: 3p26.3
Quick LinksEntrez ID:27255; OMIM: 607220; Uniprot ID:CNTN6_HUMAN; ENSEMBL ID: ENSG00000134115; HGNC ID: 2176
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 29 1 0 2 1 0 33
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0001200 3 3p26.3 1115904 1242096 126192 loss external link Pinto, 2010
AutCNV0001015 3 3p26.3 489181 1276877 787696 gain external link Pinto, 2010
AutCNV0002421 3 3p26.3 252344 1511108 1258764 gain external link Pinto, 2010
AutCNV0001201 3 3p26.3 1293342 1332197 38855 loss external link Pinto, 2010
AutCNV0000729 3 3p25.3-pter 60000 10093676 10033676 gain external link Bremer, 2011
AutCNV0004048 3 3p26.3 567948 1456492 888544 gain external link Levy, 2011
AutCNV0003512 3 3p26.3 1115904 1242096 126192 loss external link Gai, 2011
AutCNV0003511 3 3p26.3 1081998 1242096 160098 loss external link Gai, 2011
AutCNV0003510 3 3p26.3 883851 1143424 259573 gain external link Gai, 2011
AutCNV0003160 3 3p26.3 972059 1331135 359076 gain external link Gai, 2011
AutCNV0004897 3 3p26.3 loss Hu J, 2015
AutCNV0004907 3 3p26.3 gain Hu J, 2015
AutCNV0004896 3 3p26.3 loss Hu J, 2015
AutCNV0004906 3 3p26.3 gain Hu J, 2015
AutCNV0004895 3 3p26.3 loss Hu J, 2015
AutCNV0004905 3 3p26.3 gain Hu J, 2015
AutCNV0004894 3 3p26.3 loss Hu J, 2015
AutCNV0004904 3 3p26.3 gain Hu J, 2015
AutCNV0004903 3 3p26.3 gain Hu J, 2015
AutCNV0004902 3 3p26.3 gain Hu J, 2015
AutCNV0004901 3 3p26.3 gain Hu J, 2015
AutCNV0004900 3 3p26.3 loss Hu J, 2015
AutCNV0004899 3 3p26.3 loss Hu J, 2015
AutCNV0004898 3 3p26.3 loss Hu J, 2015
AutCNV0005621 3 3 loss Mercati O, 2017
AutCNV0005713 3 gain C Yuen RK, 2017
AutCNV0005712 3 gain C Yuen RK, 2017
AutCNV0005711 3 gain C Yuen RK, 2017
AutCNV0005625 3 3 gain Mercati O, 2017
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
3 1371543 G A PCR or Sanger sequencingneutral0.2679 Iossifov I, 2014
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
3 1008060 G T Doan RN, 2016
3 1008063 - A Doan RN, 2016
Low-Scale Gene Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
11 T A p. S995T Mercati O, 2017
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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved