Variant Details for CNTNAP3
Basic Information Top
| Gene Symbol: | CNTNAP3 ( CASPR3,CNTNAP3A,RP11-138L21.1,RP11-290L7.1 ) |
|---|---|
| Gene Full Name: | contactin associated protein-like 3 |
| Band: | 9p12 |
| Quick Links | Entrez ID:79937; OMIM: 610517; Uniprot ID:CNTP3_HUMAN; ENSEMBL ID: ENSG00000106714; HGNC ID: 13834 |
| 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 | 4 | 1 | 0 | 0 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000534 | 9 | 9p12-13.1 | 38930708 | 40606231 | 1675523 | loss | external link | Gregory, 2009 |
| AutCNV0001947 | 9 | 9p12-13.1 | 39004140 | 40557013 | 1552873 | loss | external link | Pinto, 2010 |
| AutCNV0001279 | 9 | 9p12-13.1 | 38791694 | 40917166 | 2125472 | gain | external link | Pinto, 2010 |
| AutCNV0001100 | 9 | 9p12-13.1 | 39004140 | 40557013 | 1552873 | loss | external link | Pinto, 2010 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 9 | 39078705 | G | A | Y | Turner T, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||