Variant Details for ANK3
Basic Information Top
| Gene Symbol: | ANK3 ( ANKYRIN-G,FLJ45464 ) |
|---|---|
| Gene Full Name: | ankyrin 3, node of Ranvier (ankyrin G) |
| Band: | 10q21.2 |
| Quick Links | Entrez ID:288; OMIM: 600465; Uniprot ID:ANK3_HUMAN; ENSEMBL ID: ENSG00000151150; HGNC ID: 494 |
| 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 | 5 | 0 | 3 | 1 | 0 | 12 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000008 | 10 | 10q11.23-21.2 | 50892143 | 61808505 | 10916362 | gain | external link | Sebat, 2007 |
| AutCNV0001289 | 10 | 10q21.2 | 62406428 | 62452564 | 46136 | gain | external link | Pinto, 2010 |
| AutCNV0004288 | 10 | 10q11.23-q21.2 | 52002204 | 61820631 | 9818427 | gain | external link | Sanders, 2011 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 10 | 61833827 | A | G | c.6812T>C | p.Met2271Thr | Sanger sequencing | deleterious | 0.9494 | Sanders SJ, 2012 |
| 10 | 61833372 | G | A | PCR or Sanger sequencing | deleterious | 0.9349 | Iossifov I, 2014 | ||
| 10 | 61967911 | G | A | PCR or Sanger sequencing | Iossifov I, 2014 | ||||
| 10 | 62023648 | G | A | neutral | 0.0285 | Chen R, 2017 | |||
| 10 | 61835934 | T | G | c.4705T>G | p.S1569A | Bi C, 2012 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 10 | 61835934 | T | G | c.4705T>G | p.Ser1569Ala | Bi C, 2012 | |||
| C | T | c.11159C>T | p.T3720M | Bi C, 2012 | |||||
| A | C | c.12763A>C | p.T4255P | Bi C, 2012 |
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 10 | 61846456 | G | A | c.3727C4T | p.Arg1243Cys | neutral | 0.1382 | Bonnet-Brilhault F, 2016 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||