Variant Details for NLGN3
Basic Information Top
| Gene Symbol: | NLGN3 ( HNL3,KIAA1480 ) |
|---|---|
| Gene Full Name: | neuroligin 3 |
| Band: | Xq13.1 |
| Quick Links | Entrez ID:54413; OMIM: 300336; Uniprot ID:NLGN3_HUMAN; ENSEMBL ID: ENSG00000196338; HGNC ID: 14289 |
| 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 | 3 | 2 | 0 | 0 | 12 | 0 | 17 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0003869 | X | 23q13.1 | 70379448 | 70413264 | 33816 | loss | external link | Levy, 2011 |
| AutCNV0004408 | X | Xq13.1 | 70383444 | 70410500 | 27056 | loss | external link | Sanders, 2011 |
| AutCNV0004669 | X | Xq13-q21 | gain | Wentz E, 2014 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| X | 70375069 | C | T | PCR or Sanger sequencing | deleterious | 0.9292 | Iossifov I, 2014 | ||
| X | 70389790 | G | A | PCR or Sanger sequencing | deleterious | 0.997 | Iossifov I, 2014 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| Jamain, 2003 | |||||||||
| Comoletti, 2004 | |||||||||
| Vincent, 2004 | |||||||||
| Gauthier, 2005 | |||||||||
| Talebizadeh, 2004 | |||||||||
| Blasi, 2006 | |||||||||
| Talebizadeh, 2006 | |||||||||
| Gong, 2008 | |||||||||
| De Jaco, 2008 | |||||||||
| Fujita, 2011 | |||||||||
| Yasuda, 2011 | |||||||||
| Etherton, 2011 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||