Variant Details for DIP2A
Basic Information Top
| Gene Symbol: | DIP2A ( C21orf106,DIP2 ) |
|---|---|
| Gene Full Name: | DIP2 disco-interacting protein 2 homolog A (Drosophila) |
| Band: | 21q22.3 |
| Quick Links | Entrez ID:23181; OMIM: 607711; Uniprot ID:DIP2A_HUMAN; ENSEMBL ID: ENSG00000160305; HGNC ID: 17217 |
| 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 | 2 | 1 | 0 | 3 | 0 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0003114 | 21 | 21q22.3 | 47941916 | 48111114 | 169198 | gain | external link | Pinto, 2010 |
| AutCNV0003439 | 21 | 21q22.3 | 47863025 | 48084989 | 221964 | gain | external link | Gai, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 21 | 47976938 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 21 | 47983832 | C | G | Iossifov I, 2015 | |||||
| 21 | 47977514 | C | T | Iossifov I, 2015 | |||||
| 21 | 47910511 | A | C | Iossifov I, 2015 |
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! | |||||||