Variant Details for NRXN3
Basic Information Top
| Gene Symbol: | NRXN3 ( C14orf60,KIAA0743,MGC176711 ) |
|---|---|
| Gene Full Name: | neurexin 3 |
| Band: | 14q24.3-q31.1 |
| Quick Links | Entrez ID:9369; OMIM: 600567; Uniprot ID:NRX3A_HUMAN; ENSEMBL ID: ENSG00000021645; HGNC ID: 8010 |
| Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic TopClick 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 | 11 | 2 | 1 | 0 | 0 | 1 | 15 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0001327 | 14 | 14q24.3 | 78866526 | 78924617 | 58091 | loss | external link | Pinto, 2010 |
| AutCNV0003369 | 14 | 14q24.3-31.1 | 79315596 | 79390145 | 74549 | loss | external link | Gai, 2011 |
| AutCNV0005846 | 14 | 14q31.1 | 78548117 | 78587995 | 39878 | loss | external link | Egger G, 2014 |
| AutCNV0005733 | 14 | loss | C Yuen RK, 2017 | |||||
| AutCNV0005732 | 14 | loss | C Yuen RK, 2017 | |||||
| AutCNV0005731 | 14 | loss | C Yuen RK, 2017 | |||||
| AutCNV0005730 | 14 | loss | C Yuen RK, 2017 | |||||
| AutCNV0005729 | 14 | loss | C Yuen RK, 2017 | |||||
| AutCNV0005728 | 14 | loss | C Yuen RK, 2017 | |||||
| AutCNV0005727 | 14 | loss | C Yuen RK, 2017 | |||||
| AutCNV0005726 | 14 | loss | C Yuen RK, 2017 |
NGS de novo Mutations TopiFish (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 |
|---|---|---|---|---|---|---|---|---|---|
| 14 | 80158587 | G | A | Sanger sequencing | deleterious | 0.9857 | De Rubeis S, 2014 | ||
| 0 | Redin C, 2017 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 14 | 79434627 | G | A | Parental Mosaic Transmitted | Krupp DR, 2017 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000135 | 14q24.3 | 14 | D14S53 | - | - | 0.00218 | Lauritsen, 2006 |