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