AutismKB 2.0

Variant Details for CNTNAP2


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Basic Information Top
Gene Symbol:CNTNAP2 ( AUTS15,CASPR2,CDFE,DKFZp781D1846,NRXN4,PTHSL1 )
Gene Full Name: contactin associated protein-like 2
Band: 7q35-q36.1
Quick LinksEntrez ID:26047; OMIM: 604569; Uniprot ID:CNTP2_HUMAN; ENSEMBL ID: ENSG00000174469; HGNC ID: 13830
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 14 0 0 5 11 3 33
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0002677 7 7q35 146219369 146297650 78281 loss external link Pinto, 2010
AutCNV0002676 7 7q35 146210945 146264567 53622 gain external link Pinto, 2010
AutCNV0001875 7 7q35 146222865 146254660 31795 gain external link Pinto, 2010
AutCNV0001081 7 7q35 146222865 146367793 144928 gain external link Pinto, 2010
AutCNV0001080 7 7q35 146219369 146257321 37952 gain external link Pinto, 2010
AutCNV0000790 7 7q35 146428215 146620075 191860 gain external link Pinto, 2010
AutCNV0000789 7 7q35 146222865 146254660 31795 gain external link Pinto, 2010
AutCNV0000788 7 7q35 146222865 146254660 31795 gain external link Pinto, 2010
AutCNV0004437 7 7q35 146575921 146662551 86630 gain external link Nord, 2011
AutCNV0003262 7 7q35 145998111 146092445 94334 loss external link Gai, 2011
AutCNV0003261 7 7q35 145880897 146036899 156002 loss external link Gai, 2011
AutCNV0005510 7 7q35 loss Al-Murrani A, 2012
AutCNV0005830 7 7q35 145687353 145707079 19726 loss external link Egger G, 2014
AutCNV0005024 7 7q35 147589621 147740232 150611 loss external link Eriksson MA, 2015
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
7 146536803 c.209G>C p.G70A Wen Z, 2017
7 146818169 G C Kalsner L, 2018
7 145657317 T C Doan RN, 2016
7 146351457 G - Doan RN, 2016
D1073V Y Alvarez-Mora MI, 2016
Low-Scale Gene Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
M1_-407C>delC Chiocchetti AG, 2015
M2_-215G>A Chiocchetti AG, 2015
M3_-43G>C Chiocchetti AG, 2015
M4_-26G>C Chiocchetti AG, 2015
g.4595T>G Chiocchetti AG, 2015
g.4641A>G Chiocchetti AG, 2015
g.4864_4865insGCGGCG Chiocchetti AG, 2015
Bakkaloglu, 2008
Poot, 2009
Nord, 2011
7 147969830 N735K Y Murdoch JD, 2015
Linkage Regions Top
Linkage Name Band Chr Marker LOD NPL P Value Reference
AutLD0000059 7q36.1 7 D7S483 2.13 - - Liu, 2001
AutLD0000093 7q36.1 7 D7S483 2 - - Molloy, 2005
AutLD0000003 7q35 7 D7S2195 1.65 - - McCauley, 2005




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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