AutismKB 2.0

Variant Details for NRXN1


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Basic Information Top
Gene Symbol:NRXN1 ( DKFZp313P2036,FLJ35941,Hs.22998,KIAA0578,PTHSL2 )
Gene Full Name: neurexin 1
Band: 2p16.3
Quick LinksEntrez ID:9378; OMIM: 600565; Uniprot ID:NRX1A_HUMAN; ENSEMBL ID: ENSG00000179915; HGNC ID: 8008
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 44 12 0 3 4 0 63
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0000763 2 2p16.3 51058745 51101583 42838 loss external link Pinto, 2010
AutCNV0000827 2 2p16.3 50686373 50877042 190669 loss external link Pinto, 2010
AutCNV0000816 2 2p16.3 50640323 50824331 184008 gain external link Pinto, 2010
AutCNV0000675 2 2p16.3 50252794 50583764 330970 gain external link Wisniowiecka-Kowalnik, 2010
AutCNV0002376 2 2p16.3 50968808 51047358 78550 gain external link Pinto, 2010
AutCNV0000674 2 2p16.3 50152904 50346637 193733 gain external link Wisniowiecka-Kowalnik, 2010
AutCNV0002375 2 2p16.3 50968808 51032859 64051 loss external link Pinto, 2010
AutCNV0000673 2 2p16.3 50175302 50565298 389996 loss external link Wisniowiecka-Kowalnik, 2010
AutCNV0000995 2 2p16.3 50882153 50950993 68840 loss external link Pinto, 2010
AutCNV0000829 2 2p16.3 51149072 51304238 155166 loss external link Pinto, 2010
AutCNV0000828 2 2p16.3 51136802 51368539 231737 loss external link Pinto, 2010
AutCNV0003137 2 2p16.3 51028662 51401676 373014 loss external link Gai, 2011
AutCNV0004401 2 2p16.3 50831734 50873107 41373 loss external link Sanders, 2011
AutCNV0000715 2 2p16.3 51109690 51528474 418784 loss external link Bremer, 2011
AutCNV0004202 2 2p16.3 50686373 50877042 190669 loss external link Sanders, 2011
AutCNV0004201 2 2p16.3 50640323 50824331 184008 gain external link Sanders, 2011
AutCNV0003800 2 2p16.3 50830144 50873950 43806 loss external link Levy, 2011
AutCNV0000709 2 2p16.3 50558730 50749775 191045 loss external link Soysal, 2011
AutCNV0004205 2 2p16.3 51149072 51304238 155166 loss external link Sanders, 2011
AutCNV0003136 2 2p16.3 50617013 50668760 51747 loss external link Gai, 2011
AutCNV0004204 2 2p16.3 51136802 51368539 231737 loss external link Sanders, 2011
AutCNV0004203 2 2p16.3 51058745 51120881 62136 loss external link Sanders, 2011
AutCNV0003482 2 2p16.3 51180456 51421782 241326 loss external link Gai, 2011
AutCNV0003139 2 2p16.3 51180456 51198384 17928 loss external link Gai, 2011
AutCNV0003138 2 2p16.3 51169050 51247657 78607 gain external link Gai, 2011
AutCNV0004776 2 2p16.31 loss Vi?as-Jornet M, 2014
AutCNV0004774 2 2p16.31 loss Vi?as-Jornet M, 2014
AutCNV0004771 2 2p16.31 loss Vi?as-Jornet M, 2014
AutCNV0004851 15 15q13.2-q13.3 30941572 32509926 1568354 loss external link Moreira DP, 2014
AutCNV0004833 2 2p16.3 51154996 51328796 173800 loss external link Imitola J, 2014
AutCNV0004832 2 2p16.3 51047060 51154995 107935 loss external link Imitola J, 2014
AutCNV0004831 2 2p16.3 51184729 51319450 134721 loss external link Imitola J, 2014
AutCNV0004830 2 2p16.3 51047025 51176742 129717 loss external link Imitola J, 2014
AutCNV0005022 2 2p16.3 51122091 51291023 168932 loss external link Eriksson MA, 2015
AutCNV0005021 2 2p16.3 51109690 51528474 418784 loss external link Eriksson MA, 2015
AutCNV0005020 2 2p16.3 51043498 51153106 109608 loss external link Eriksson MA, 2015
AutCNV0004974 2 2p16.3 50145643 51259674 1114031 external link Sanders SJ, 2015
AutCNV0005691 2 loss Yuen RK, 2016
AutCNV0005145 7 7q22.3 105890353 106064794 174441 gain external link Soueid J, 2016
AutCNV0005704 2 loss C Yuen RK, 2017
AutCNV0005798 2 2p16.3 50754487 50996179 241692 loss external link Woodbury-Smith M, 2017
AutCNV0005709 2 loss C Yuen RK, 2017
AutCNV0005707 2 loss C Yuen RK, 2017
AutCNV0005706 2 loss C Yuen RK, 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
2 50724605 A T PCR and MiSeq Iossifov I, 2012
2 50318536 C T Sanger sequencingneutral0.0458 De Rubeis S, 2014
2 50850511 T G Sanger sequencing deleterious0.8128 De Rubeis S, 2014
2 50733692 C T c.2558G>A p.Arg853His PCR and Sanger sequencing deleterious0.5914 O'Roak BJ, 2014
2 50170866 AG A c.4311delC p.Cys1438ValfsTer8 PCR and Sanger sequencing O'Roak BJ, 2014
2 51254825 G T c.587C>A p.Pro196His PCR and Sanger sequencingneutral0.2804 O'Roak BJ, 2014
2 50149217 G C c.4509C>G p.Tyr1503Ter PCR and Sanger sequencing O'Roak BJ, 2014
2 50733692 C T Sanger sequencing deleterious0.5914 Yuen RK, 2016
0 Liu Y, 2018
2 51255348 C G c.64G>C p.Gly22Arg Not_tested deleterious0.5385 Takata A, 2018
0 Redin C, 2017
0 Redin C, 2017
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
2 51255371 G A c.41C>T S14L Onay H, 2016
2 50765412 G T c.2242C>A L748I Onay H, 2016
2 50280477 c.4180A>T p.T1394S Wen Z, 2017
Low-Scale Gene Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
Feng, 2006
Kim, 2008
Yan, 2008
Liu, 2011
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


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