Variant Details for MKL2
Basic Information Top
| Gene Symbol: | MKL2 ( DKFZp686J1745,FLJ31823,FLJ45623,MRTF-B,NPD001 ) |
|---|---|
| Gene Full Name: | MKL/myocardin-like 2 |
| Band: | 16p13.12 |
| Quick Links | Entrez ID:57496; OMIM: 609463; Uniprot ID:MKL2_HUMAN; ENSEMBL ID: ENSG00000186260; HGNC ID: 29819 |
| 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 | 4 | 1 | 1 | 0 | 4 | 10 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 16 | 14334157 | C | T | c.895C>T | p.Arg299Trp | Sanger sequencing | neutral | 0.1611 | Neale BM, 2012 |
| 16 | 14334157 | C | T | Sanger sequencing | neutral | 0.1611 | De Rubeis S, 2014 | ||
| 16 | 14342897 | T | C | PCR or Sanger sequencing | neutral | 0.2337 | Iossifov I, 2014 | ||
| 16 | 14340619 | C | T | c.1502C>T | p.Ser501Phe | Sanger sequencing | neutral | 0.2358 | Li J, 2017 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 16 | 14342897 | T | C | High-confidence mosaics | Resequencing | Lim ET, 2017 |
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 16 | 14340403 | McCarthy SE, 2014 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000061 | 16p13.12 | 16 | D16S2619 | 1.91 | - | - | Liu, 2001 |
| AutLD0000091 | 16p13 | 16 | D16S2619 | - | 2.17 | - | Buxbaum, 2004 |
| AutLD0000006 | 16p13.12 | 16 | D16S3062 | 1.87 | - | - | McCauley, 2005 |
| AutLD0000117 | 16p13.12 | 16 | - | - | 2.36 | - | Spence, 2006 |