Variant Details for MAP2K4
Basic Information Top
| Gene Symbol: | MAP2K4 ( JNKK,JNKK1,MAPKK4,MEK4,MKK4,PRKMK4,SEK1,SERK1 ) |
|---|---|
| Gene Full Name: | mitogen-activated protein kinase kinase 4 |
| Band: | 17p12 |
| Quick Links | Entrez ID:6416; OMIM: 601335; Uniprot ID:MP2K4_HUMAN; ENSEMBL ID: ENSG00000065559; HGNC ID: 6844 |
| 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 | 0 | 3 | 0 | 0 | 0 | 0 | 3 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| No related data! | ||||||||
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 |
|---|---|---|---|---|---|---|---|---|---|
| 17 | 11924221 | G | A | c.18G>A | p.Pro6Pro | Not_tested | Takata A, 2018 | ||
| 17 | 11924226 | G | A | c.23G>A | p.Gly8Asp | Not_tested | neutral | 0.0683 | Takata A, 2018 |
| 17 | 11924235 | G | A | c.32G>A | p.Gly11Asp | Not_tested | neutral | 0.0256 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||