Variant Details for DMXL1
Basic Information Top
| Gene Symbol: | DMXL1 ( DKFZp779O1239,FLJ44772 ) |
|---|---|
| Gene Full Name: | Dmx-like 1 |
| Band: | 5q23.1 |
| Quick Links | Entrez ID:1657; OMIM: 605671; Uniprot ID:DMXL1_HUMAN; ENSEMBL ID: ENSG00000172869; HGNC ID: 2937 |
| 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 |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000775 | 5 | 5q23.1 | 118516878 | 118589485 | 72607 | gain | external link | Pinto, 2010 |
| AutCNV0003561 | 5 | 5q23.1 | 118465249 | 118624190 | 158941 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 5 | 118485784 | C | T | Sanger sequencing | neutral | 0.0031 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 5 | 118454514 | T | A | c.748T>A | p.Ser250Thr | neutral | 0.4317 | Bi C, 2012 | |
| 5 | 118506652 | C | T | Y | Cukier HN, 2014 | ||||
| 5 | 118505962 | C | T | Y | Cukier HN, 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! | |||||||