Variant Details for MAPK4
Basic Information Top
| Gene Symbol: | MAPK4 ( ERK3,Erk4,PRKM4,p63MAPK ) |
|---|---|
| Gene Full Name: | mitogen-activated protein kinase 4 |
| Band: | 18q21.1-q21.2 |
| Quick Links | Entrez ID:5596; OMIM: 176949; Uniprot ID:MK04_HUMAN; ENSEMBL ID: ENSG00000141639; HGNC ID: 6878 |
| 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 | 1 | 2 | 0 | 0 | 0 | 1 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0002948 | 18 | 18q21.2 | 48220152 | 48476450 | 256298 | gain | external link | Pinto, 2010 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 18 | 48190687 | C | T | Sanger sequencing | neutral | 0.0278 | De Rubeis S, 2014 | ||
| 18 | 48241495 | G | A | c.593G>A | p.Arg198Gln | Sanger sequencing | deleterious | 0.9523 | Li J, 2017 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000141 | 18q12.1-21.1 | 18 | D18S536/D18S970 | - | - | 0.0022 | Lauritsen, 2006 |