Variant Details for ERCC6
Basic Information Top
| Gene Symbol: | ERCC6 ( ARMD5,CKN2,COFS,COFS1,CSB,RAD26 ) |
|---|---|
| Gene Full Name: | excision repair cross-complementing rodent repair deficiency, complementation group 6 |
| Band: | 10q11.23 |
| Quick Links | Entrez ID:2074; OMIM: 609413; Uniprot ID:ERCC6_HUMAN; ENSEMBL ID: ENSG00000225830; HGNC ID: 3438 |
| 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 | 1 | 0 | 4 | 0 | 1 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000219 | 10 | 10q11.22-11.23 | 46269073 | 51450788 | 5181715 | gain | external link | Christian, 2008 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 10 | 50691429 | C | T | Sanger sequencing | deleterious | 0.5125 | De Rubeis S, 2014 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 10 | 50691439 | G | A | Deciphering Developmental Disorders Study., 2015 | |||||
| 10 | 50678615 | T | C | Deciphering Developmental Disorders Study., 2015 | |||||
| 10 | 50691439 | G | A | Deciphering Developmental Disorders Study., 2015 | |||||
| 10 | 50678615 | T | C | Deciphering Developmental Disorders Study., 2015 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000112 | 10p11.23-q11.23 | 10 | - | - | 1.89 | - | Spence, 2006 |