Variant Details for MID1
Basic Information Top
| Gene Symbol: | MID1 ( BBBG1,FLJ57031,FLJ58683,FLJ76288,FXY,GBBB1,MIDIN,OGS1,OS,OSX,RNF59,TRIM18,XPRF,ZNFXY ) |
|---|---|
| Gene Full Name: | midline 1 (Opitz/BBB syndrome) |
| Band: | Xp22 |
| Quick Links | Entrez ID:4281; OMIM: 300552; Uniprot ID:TRI18_HUMAN; ENSEMBL ID: ENSG00000101871; HGNC ID: 7095 |
| 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 | 5 | 0 | 2 | 2 | 0 | 0 | 9 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000301 | X | Xp22 | 920589 | 12345395 | 11424806 | loss | external link | Thomas, 1999 |
| AutCNV0000247 | X | Xp22.22 | 10051137 | 10562895 | 511758 | gain | external link | Christian, 2008 |
| AutCNV0000868 | X | Xp22.2 | 9971816 | 10848940 | 877124 | gain | external link | Pinto, 2010 |
| AutCNV0000671 | X | Xp22.1-p22.3 | 6644160 | 24159444 | 17515284 | loss | external link | Vazna, 2010 |
| AutCNV0000713 | X | Xp11.2-p22.33 | 60000 | 56583275 | 56523275 | gain | external link | Edens, 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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| X | 10535273 | G | C | mosaic | PASM | Dou Y, 2017 |
| X | 10535432 | G | A | mosaic | PASM | Dou Y, 2017 |
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| X | 11009314 | T | C | Doan RN, 2016 | |||||
| X | 11009415 | G | - | Doan RN, 2016 |
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! | |||||||