Variant Details for DIP2C
Basic Information Top
| Gene Symbol: | DIP2C ( FLJ34444,FLJ44075,KIAA0934 ) |
|---|---|
| Gene Full Name: | DIP2 disco-interacting protein 2 homolog C (Drosophila) |
| Band: | 10p15.3 |
| Quick Links | Entrez ID:22982; OMIM: 611380; Uniprot ID:DIP2C_HUMAN; ENSEMBL ID: ENSG00000151240; HGNC ID: 29150 |
| 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 | 4 | 0 | 0 | 0 | 0 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000414 | 10 | 10p15.3 | 60001 | 687746 | 627745 | loss | external link | Gregory, 2009 |
| AutCNV0003103 | 10 | 10p15.3 | 69083 | 323283 | 254200 | gain | external link | Pinto, 2010 |
| AutCNV0001960 | 10 | 10p15.3 | 588609 | 633495 | 44886 | loss | external link | Pinto, 2010 |
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 | 375509 | G | A | PCR or Sanger sequencing | deleterious | 0.992 | Iossifov I, 2014 | ||
| 10 | 412273 | - | CA | Sanger sequencing | Yuen RK, 2016 | ||||
| 10 | 673309 | C | T | Sanger and Sequenom | Michaelson JJ, 2012 | ||||
| 10 | 412272 | G | GCA | HiSeq X and Sanger | C Yuen RK, 2017 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
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! | |||||||