Variant Details for XRN1
Basic Information Top
| Gene Symbol: | XRN1 ( DKFZp434P0721,DKFZp686B22225,DKFZp686F19113,FLJ41903,SEP1 ) |
|---|---|
| Gene Full Name: | 5'-3' exoribonuclease 1 |
| Band: | 3q23 |
| Quick Links | Entrez ID:54464; OMIM: 607994; Uniprot ID:XRN1_HUMAN; ENSEMBL ID: ENSG00000114127; HGNC ID: 30654 |
| 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 | 2 | 3 | 1 | 0 | 0 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000352 | 3 | 3q23 | 138917310 | 142917310 | 4000000 | external link | Zwaag, 2009 | |
| AutCNV0001681 | 3 | 3q23 | 141821227 | 142085310 | 264083 | gain | external link | Pinto, 2010 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 3 | 142139978 | - | T | Sanger sequencing | Yuen RK, 2016 | ||||
| 3 | 142139977 | G | GT | HiSeq X and Sanger | C Yuen RK, 2017 | ||||
| 3 | 142083987 | C | T | neutral | 0.3149 | Chen R, 2017 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 3 | 142151632 | A | G | High-confidence mosaics | Resequencing | Lim ET, 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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||