Variant Details for DMXL2
Basic Information Top
| Gene Symbol: | DMXL2 ( FLJ26672,KIAA0856,RC3 ) |
|---|---|
| Gene Full Name: | Dmx-like 2 |
| Band: | 15q21.2 |
| Quick Links | Entrez ID:23312; OMIM: 612186; Uniprot ID:DMXL2_HUMAN; ENSEMBL ID: ENSG00000104093; HGNC ID: 2938 |
| 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 | 3 | 1 | 0 | 0 | 2 | 8 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000028 | 15 | 15q21.2-26.3 | 51558408 | 102352477 | 50794069 | gain | external link | Szatmari, 2007 |
| AutCNV0000110 | 15 | 15q21.2-26.3 | 51558408 | 102352477 | 50794069 | gain | external link | Szatmari, 2007 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 15 | 51763583 | G | C | PCR or Sanger sequencing | neutral | 0.0631 | Iossifov I, 2014 | ||
| 15 | 51778560 | TCTTA | T | strong | Iossifov I, 2014 | ||||
| 15 | 51766611 | C | T | p.Met2381Ile | Sanger | neutral | 0.1997 | Krumm N, 2015 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 15 | 51791966 | T | C | Mosaic | Krupp DR, 2017 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000157 | 15q21.2-q22.1 | 15 | rs11856 | 5.31 | - | - | Allen-Brady, 2010 |
| AutLD0000158 | 15q21.1-q22.2 | 15 | rs383902 | 1.49 | - | - | Allen-Brady, 2010 |