Variant Details for MET
Basic Information Top
| Gene Symbol: | MET ( AUTS9,HGFR,RCCP2,c-Met ) |
|---|---|
| Gene Full Name: | met proto-oncogene (hepatocyte growth factor receptor) |
| Band: | 7q31 |
| Quick Links | Entrez ID:4233; OMIM: 164860; Uniprot ID:MET_HUMAN; ENSEMBL ID: ENSG00000105976; HGNC ID: 7029 |
| 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 | 4 | 2 | 0 | 0 | 2 | 0 | 8 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000143 | 7 | 7q31.1-32.2 | 113741049 | 129227770 | 15486721 | loss | external link | Marshall, 2008 |
| AutCNV0000142 | 7 | 7q31.1-31.31 | 108606430 | 119629936 | 11023506 | loss | external link | Marshall, 2008 |
| AutCNV0004269 | 7 | 7q31.1-q32.1 | 113547764 | 129034485 | 15486721 | loss | external link | Sanders, 2011 |
| AutCNV0004266 | 7 | 7q31.1-q31.31 | 108413145 | 119436651 | 11023506 | loss | external link | Sanders, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 7 | 116414960 | C | T | Sanger sequencing | De Rubeis S, 2014 | ||||
| 7 | 116398602 | G | A | c.2192G>A | p.Arg731Gln | Not_tested | deleterious | 0.5103 | Takata A, 2018 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| Campbell, 2006 | |||||||||
| Campbell, 2007 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||