Variant Details for MBD5
Basic Information Top
| Gene Symbol: | MBD5 ( FLJ11113,FLJ30517,KIAA1461,MRD1 ) |
|---|---|
| Gene Full Name: | methyl-CpG binding domain protein 5 |
| Band: | 2q23.2 |
| Quick Links | Entrez ID:55777; OMIM: 611472; Uniprot ID:MBD5_HUMAN; ENSEMBL ID: ENSG00000204406; HGNC ID: 20444 |
| 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 | 8 | 4 | 1 | 5 | 0 | 0 | 18 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0001625 | 2 | 2q23.1 | 148818437 | 148862076 | 43639 | loss | external link | Pinto, 2010 |
| AutCNV0000783 | 2 | 2q23.1 | 149164973 | 149361998 | 197025 | gain | external link | Pinto, 2010 |
| AutCNV0005696 | 2 | loss | Yuen RK, 2016 | |||||
| AutCNV0005703 | 2 | loss | C Yuen RK, 2017 | |||||
| AutCNV0005702 | 2 | loss | C Yuen RK, 2017 | |||||
| AutCNV0005799 | 2 | 2q23.1 | 148851175 | 149059335 | 208160 | loss | external link | Woodbury-Smith M, 2017 |
| AutCNV0005708 | 2 | loss | C Yuen RK, 2017 | |||||
| AutCNV0005705 | 2 | loss | C Yuen RK, 2017 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 2 | 149225965 | * | 2D, -TC | Sanger sequencing | O'Roak BJ, 2012 | ||||
| 2 | 149227283 | C | G | PCR or Sanger sequencing | deleterious | 0.9221 | Iossifov I, 2014 | ||
| 2 | 149051133 | molecular inversion probe rese | Turner TN, 2016 | ||||||
| 0 | c.288_301del | p.(K98*) | Trujillano D, 2017 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 2 | 149243456 | A | G | Parental Mosaic Transmitted | Krupp DR, 2017 |
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 2 | 149215885 | G | A | c.-443G>A | Ishizuka K, 2016 | ||||
| 2 | 149226221 | A | G | c.709A>G | p.I237V | Ishizuka K, 2016 | |||
| 2 | 149226357 | G | A | c.845G>A | p.G282D | Ishizuka K, 2016 | |||
| 2 | 149227374 | A | T | c.1862A>T | p.N621I | Ishizuka K, 2016 | |||
| 2 | 149527051 | T | W | c.3054+2T>A | O'Roak BJ, 2012 |
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! | |||||||