Variant Details for MAPT
Basic Information Top
| Gene Symbol: | MAPT ( DDPAC,FLJ31424,FTDP-17,MAPTL,MGC138549,MSTD,MTBT1,MTBT2,PPND,TAU ) |
|---|---|
| Gene Full Name: | microtubule-associated protein tau |
| Band: | 17q21.31 |
| Quick Links | Entrez ID:4137; OMIM: 157140; Uniprot ID:TAU_HUMAN; ENSEMBL ID: ENSG00000186868; HGNC ID: 6893 |
| 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 | 0 | 0 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000630 | 17 | 17q21.31 | 44038672 | 44257505 | 218833 | loss | external link | Gregory, 2009 |
| AutCNV0000690 | 17 | 17q21.31 | 40546474 | 44544684 | 3998210 | loss | external link | Berkel, 2010 |
| AutCNV0003858 | 17 | 17q21.31 | 43686404 | 44168013 | 481609 | loss | external link | Levy, 2011 |
| AutCNV0004836 | 17 | 17q21.31 | 43703800 | 44163085 | 459285 | loss | external link | Asadollahi R, 2014 |
| AutCNV0004834 | 17 | 17q21.31 | loss | Asadollahi R, 2014 |
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 |
|---|---|---|---|---|---|---|
| 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! | |||||||