Variant Details for NCOA6
Basic Information Top
| Gene Symbol: | NCOA6 ( AIB3,ASC2,KIAA0181,NRC,PRIP,RAP250,TRBP ) |
|---|---|
| Gene Full Name: | nuclear receptor coactivator 6 |
| Band: | 20q11.22 |
| Quick Links | Entrez ID:23054; OMIM: 605299; Uniprot ID:NCOA6_HUMAN; ENSEMBL ID: ENSG00000198646; HGNC ID: 15936 |
| 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 | 3 | 0 | 0 | 1 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0004378 | 20 | 20q11.1-q11.23 | 29637396 | 35710453 | 6073057 | gain | external link | Sanders, 2011 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 20 | 33345644 | G | A | c.907C>T | p.Arg303* | Sanger sequencing | Takata A, 2018 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 20 | 33330216 | C | T | mosaic | PASM | Dou Y, 2017 |
| 20 | 33330216 | C | T | High-confidence mosaics | Resequencing | Lim ET, 2017 |
| 20 | 33330216 | C | T | Mosaic | Krupp DR, 2017 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000147 | 20q11.21-13.12 | 20 | - | - | 5.56 | - | Allen-Brady, 2008 |