Variant Details for MED13L
Basic Information Top
| Gene Symbol: | MED13L ( DKFZp781D0112,FLJ21627,KIAA1025,PROSIT240,THRAP2,TRAP240L ) |
|---|---|
| Gene Full Name: | mediator complex subunit 13-like |
| Band: | 12q24.21 |
| Quick Links | Entrez ID:23389; OMIM: 608771; Uniprot ID:MD13L_HUMAN; ENSEMBL ID: ENSG00000123066; HGNC ID: 22962 |
| 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 | 6 | 0 | 22 | 1 | 0 | 33 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000102 | 12 | 12q12-24.33 | 46092533 | 132022120 | 85929587 | gain | external link | Szatmari, 2007 |
| AutCNV0000146 | 12 | 12q24.21-24.33 | 115707280 | 133777650 | 18070370 | gain | external link | Marshall, 2008 |
| AutCNV0004303 | 12 | 12q24.21-q24.33 | 115685617 | 133779461 | 18093844 | gain | external link | Sanders, 2011 |
| AutCNV0004846 | 12 | 12q24.21 | loss | Asadollahi R, 2014 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 12 | 116424952 | C | T | c.4076G>A | p.Trp1359Ter | PCR and Sanger sequencing | O'Roak BJ, 2014 | ||
| 12 | 116429238 | T | C | c.3521A>G | p.Tyr1174Cys | PCR and Sanger sequencing | deleterious | 0.8739 | O'Roak BJ, 2014 |
| 12 | 116443746 | CTG | C | c.2395_2396del | p.Gln799Glyfs*10 | Sanger sequencing | Wang T, 2016 | ||
| 12 | 116434859 | A | c.2344G>T | p.Glu782Ter | Stessman HA, 2017 | ||||
| 12 | 116403994 | G | A | c.6280C>T | p.Pro2094Ser | Not_tested | deleterious | 0.9469 | Takata A, 2018 |
| 12 | 116446528 | G | A | Deciphering Developmental , 2015 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| c.1708_1709delAG | Y | Codina-Sol, 2015 | |||||||
| 12 | 116413380 | C | A/C | Y | Wang T, 2016 | ||||
| 12 | 116420323 | T | C/T | Y | Wang T, 2016 | ||||
| 12 | 116422094 | C | A/C | Y | Wang T, 2016 | ||||
| 12 | 116446308 | C | C/T | Y | Wang T, 2016 | ||||
| 12 | 116408522 | A | A/C | Y | Wang T, 2016 | ||||
| 12 | 116413426 | C | A/C | Y | Wang T, 2016 | ||||
| 12 | 116418713 | T | C/T | Y | Wang T, 2016 | ||||
| 12 | 116429431 | A | A/G | Y | Wang T, 2016 | ||||
| 12 | 116445225 | T | G/T | Y | Wang T, 2016 | ||||
| 12 | 116440906 | G | C/G | Y | Wang T, 2016 | ||||
| 12 | 116446833 | G | A/G | Y | Wang T, 2016 | ||||
| 12 | 116403898 | G | C/G | Y | Wang T, 2016 | ||||
| 12 | 116413537 | T | C/T | Y | Wang T, 2016 | ||||
| 12 | 116413542 | C | C/T | Y | Wang T, 2016 | ||||
| 12 | 116418581 | T | C/T | Y | Wang T, 2016 | ||||
| 12 | 116446617 | C | A/C | Y | Wang T, 2016 | ||||
| 12 | 116446920 | C | C/T | Y | Wang T, 2016 | ||||
| 12 | 116457643 | T | C/T | Y | Wang T, 2016 | ||||
| 12 | 116457645 | G | A/G | Y | Wang T, 2016 | ||||
| 12 | 116534535 | C | C/T | Y | Wang T, 2016 | ||||
| 12 | 115300001 | G | CT | Doan RN, 2016 |
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 12 | 116434859 | A | XP_005253919.1:p.Glu782Ter | Y | Stessman HA, 2017 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||