Variant Details for CNTN5
Basic Information Top
| Gene Symbol: | CNTN5 ( HNB-2s,MGC163491,NB-2 ) |
|---|---|
| Gene Full Name: | contactin 5 |
| Band: | 11q22.1 |
| Quick Links | Entrez ID:53942; OMIM: 607219; Uniprot ID:CNTN5_HUMAN; ENSEMBL ID: ENSG00000149972; HGNC ID: 2175 |
| 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 | 8 | 1 | 0 | 2 | 0 | 1 | 12 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0002012 | 11 | 11q22.1 | 99516815 | 99566782 | 49967 | loss | external link | Pinto, 2010 |
| AutCNV0000792 | 11 | 11q22.1 | 98907603 | 98971472 | 63869 | gain | external link | Pinto, 2010 |
| AutCNV0002782 | 11 | 11q22.1 | 99524334 | 99566782 | 42448 | loss | external link | Pinto, 2010 |
| AutCNV0002781 | 11 | 11q22.1 | 99524334 | 99566782 | 42448 | loss | external link | Pinto, 2010 |
| AutCNV0005680 | 11 | 11 | external link | Krumm N, 2015 | ||||
| AutCNV0005647 | 11 | 11 | Krumm N, 2015 | |||||
| AutCNV0005633 | 11 | 11 | Krumm N, 2015 | |||||
| AutCNV0005619 | 11 | 11q21q22.1 | loss | Mercati O, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 11 | 99827672 | C | G | PCR or Sanger sequencing | neutral | 0.0318 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 11 | 100168410 | T | A | Y | Cukier HN, 2014 | ||||
| 11 | 97457504 | ACAC | - | Doan RN, 2016 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000100 | 11q22.1 | 11 | rs1986446 | 2.65 | - | - | Ma, 2007 |