Variant Details for MED13
Basic Information Top
| Gene Symbol: | MED13 ( ARC250,DRIP250,HSPC221,KIAA0593,THRAP1,TRAP240 ) |
|---|---|
| Gene Full Name: | mediator complex subunit 13 |
| Band: | 17q23.2 |
| Quick Links | Entrez ID:9969; OMIM: 603808; Uniprot ID:MED13_HUMAN; ENSEMBL ID: ENSG00000108510; HGNC ID: 22474 |
| 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 | 3 | 0 | 1 | 0 | 1 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000276 | 17 | 17q23 | 57545218 | 62469538 | 4924320 | gain | external link | Wassink, 2001 |
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 | 60060310 | AGGAGTCCTT | A | PCR amplification and Sanger s | Dong S, 2014 | ||||
| 17 | 60088343 | G | A | HiSeq X and Sanger | C Yuen RK, 2017 | ||||
| 17 | 60088343 | G | A | HiSeq X and Sanger | C Yuen RK, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 17 | 60316138 | G | A | Doan RN, 2016 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000139 | 17q23.2 | 17 | D17S1606 | - | - | 0.00786 | Lauritsen, 2006 |