Variant Details for CNTN4
Basic Information Top
| Gene Symbol: | CNTN4 ( AXCAM,BIG-2,CNTN4A,MGC33615 ) |
|---|---|
| Gene Full Name: | contactin 4 |
| Band: | 3p26.3-p26.2 |
| Quick Links | Entrez ID:152330; OMIM: 607280; Uniprot ID:CNTN4_HUMAN; ENSEMBL ID: ENSG00000144619; HGNC ID: 2174 |
| 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 | 13 | 1 | 0 | 1 | 1 | 0 | 16 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000206 | 3 | 3p26.3 | 2346724 | 2936584 | 589860 | loss | external link | Christian, 2008 |
| AutCNV0000195 | 3 | 3p26.3 | 2240033 | 2936584 | 696551 | gain | external link | Roohi, 2009 |
| AutCNV0000194 | 3 | 3p26.3 | 2240033 | 2936584 | 696551 | loss | external link | Roohi, 2009 |
| AutCNV0001641 | 3 | 3p26.3 | 2390612 | 2900100 | 509488 | loss | external link | Pinto, 2010 |
| AutCNV0000785 | 3 | 3p26.3 | 2003504 | 2176165 | 172661 | gain | external link | Pinto, 2010 |
| AutCNV0003515 | 3 | 3p26.3 | 2212318 | 2881134 | 668816 | loss | external link | Gai, 2011 |
| AutCNV0003162 | 3 | 3p26.3 | 2029929 | 2959627 | 929698 | gain | external link | Gai, 2011 |
| AutCNV0000748 | 3 | 3p26.3 | 2669708 | 2901647 | 231939 | gain | external link | Bremer, 2011 |
| AutCNV0000729 | 3 | 3p25.3-pter | 60000 | 10093676 | 10033676 | gain | external link | Bremer, 2011 |
| AutCNV0004907 | 3 | 3p26.3 | gain | Hu J, 2015 | ||||
| AutCNV0005713 | 3 | gain | C Yuen RK, 2017 | |||||
| AutCNV0005711 | 3 | gain | C Yuen RK, 2017 | |||||
| AutCNV0005710 | 3 | gain | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 3 | 2967383 | C | T | Sanger sequencing | De Rubeis S, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 3 | 3076476 | T | C | Kalsner L, 2018 |
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| Roohi, 2009 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||