Variant Details for ANK2
Basic Information Top
| Gene Symbol: | ANK2 ( DKFZp686M09125,DKFZp686P0948,FLJ38277,LQT4 ) |
|---|---|
| Gene Full Name: | ankyrin 2, neuronal |
| Band: | 4q25-q26 |
| Quick Links | Entrez ID:287; OMIM: 106410; Uniprot ID:ANK2_HUMAN; ENSEMBL ID: ENSG00000145362; HGNC ID: 493 |
| 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 | 9 | 0 | 2 | 0 | 0 | 14 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0003194 | 4 | 4q25 | 113375789 | 113748438 | 372649 | gain | external link | Gai, 2011 |
| AutCNV0005757 | 4 | loss | C Yuen RK, 2017 | |||||
| AutCNV0005756 | 4 | loss | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 4 | 114232545 | C | T | PCR and MiSeq | Iossifov I, 2012 | ||||
| 4 | 114214640 | C | G | Sanger sequencing | neutral | 0.0663 | De Rubeis S, 2014 | ||
| 4 | 114254247 | C | T | Sanger sequencing | De Rubeis S, 2014 | ||||
| 4 | 114264189 | C | G | Sanger sequencing | deleterious | 0.5164 | De Rubeis S, 2014 | ||
| 4 | 114302686 | A | Stessman HA, 2017 | ||||||
| 4 | 114275103 | G | C | c.5329G>C | p.Val1777Leu | Sanger sequencing | deleterious | 0.8702 | Li J, 2017 |
| 0 | c.4764delT | p.Gln1589Lysfs | Bowling KM, 2017 | ||||||
| 4 | 114264189 | C | G | c.4112CCC>CGC | p.1371P>R | deleterious | 0.5164 | Fromer M, 2014 | |
| 4 | 114280060 | A | T | p.E3429V | Y | Yuen RK, 2015 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 4 | 114279674 | C | A | Y | Cukier HN, 2014 | ||||
| 4 | 114294463 | G | A | R3906Q | Toma C, 2014 |
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! | |||||||