AutismKB 2.0

Variant Details for CLDN5


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Basic Information Top
Gene Symbol:CLDN5 ( AWAL,BEC1,CPETRL1,TMVCF )
Gene Full Name: claudin 5
Band: 22q11.21
Quick LinksEntrez ID:7122; OMIM: 602101; Uniprot ID:CLD5_HUMAN; ENSEMBL ID: ENSG00000184113; HGNC ID: 2047
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 21 0 0 0 0 1 22
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0000269 22 22q11 loss Roubertie, 2001
AutCNV0000270 22 22q11 loss Niklasson, 2002
AutCNV0000031 22 22q11.21 19132346 21982246 2849900 gain external link Szatmari, 2007
AutCNV0000030 22 22q11.21 19132346 21449446 2317100 loss external link Szatmari, 2007
AutCNV0000244 22 22q11.21 19065949 21342880 2276931 gain external link Christian, 2008
AutCNV0000189 22 22q11.2 18890946 23222208 4331262 gain external link Marshall, 2008
AutCNV0000188 22 22q11.2 18640346 21461646 2821300 loss external link Marshall, 2008
AutCNV0000158 22 22q11.21 18890946 23222208 4331262 gain external link Marshall, 2008
AutCNV0000157 22 22q11.21 18640346 21461646 2821300 loss external link Marshall, 2008
AutCNV0000392 22 22q11.2 17920000 25970000 8050000 gain external link Ramelli, 2008
AutCNV0000826 22 22q11.21 18861748 21489918 2628170 gain external link Pinto, 2010
AutCNV0000760 22 22q11.21 18877787 21465780 2587993 gain external link Pinto, 2010
AutCNV0000759 22 22q11.21 18877787 21463730 2585943 gain external link Pinto, 2010
AutCNV0004392 22 22q11.21-q11.22 18885500 23216762 4331262 gain external link Sanders, 2011
AutCNV0004391 22 22q11.21 18877787 21463730 2585943 gain external link Sanders, 2011
AutCNV0004390 22 22q11.21 18877787 21461274 2583487 gain external link Sanders, 2011
AutCNV0004389 22 22q11.21 18861748 21489918 2628170 gain external link Sanders, 2011
AutCNV0004388 22 22q11.21 18634900 21456200 2821300 loss external link Sanders, 2011
AutCNV0003864 22 22q11.21 18869508 20313261 1443753 loss external link Levy, 2011
AutCNV0000722 22 22q11.21 18890271 21561514 2671243 gain external link Bremer, 2011
AutCNV0004685 4 4q22.2 94144621 94172410 27789 loss external link Gazzellone MJ, 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
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
AutLD0000028 22q11.21 22 D22S264 1.3 - - Bailey, 1998




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  (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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