Variant Details for NRXN1
Basic Information Top
Gene Symbol: | NRXN1 ( DKFZp313P2036,FLJ35941,Hs.22998,KIAA0578,PTHSL2 ) |
---|---|
Gene Full Name: | neurexin 1 |
Band: | 2p16.3 |
Quick Links | Entrez 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
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 sequencing | neutral | 0.0458 | De Rubeis S, 2014 | ||
2 | 50850511 | T | G | Sanger sequencing | deleterious | 0.8128 | De Rubeis S, 2014 | ||
2 | 50733692 | C | T | c.2558G>A | p.Arg853His | PCR and Sanger sequencing | deleterious | 0.5914 | 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 sequencing | neutral | 0.2804 | 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 | deleterious | 0.5914 | Yuen RK, 2016 | ||
0 | Liu Y, 2018 | ||||||||
2 | 51255348 | C | G | c.64G>C | p.Gly22Arg | Not_tested | deleterious | 0.5385 | 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! |