Variant Details for XIRP1
Basic Information Top
| Gene Symbol: | XIRP1 ( CMYA1,DKFZp451D042,DKFZp779C1255,DKFZp779C1947,Xin ) |
|---|---|
| Gene Full Name: | xin actin-binding repeat containing 1 |
| Band: | 3p22.2 |
| Quick Links | Entrez ID:165904; OMIM: 609777; Uniprot ID:XIRP1_HUMAN; ENSEMBL ID: ENSG00000168334; HGNC ID: 14301 |
| 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 | 4 | 0 | 0 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0001655 | 3 | 3p22.1-22.2 | 38500189 | 39590195 | 1090006 | 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 | 39229490 | p.Val483Met | Sanger sequencing | O'Roak BJ, 2011 | |||||
| 3 | 39230145 | G | A | PCR or Sanger sequencing | Iossifov I, 2014 | ||||
| 3 | 39230164 | C | T | p.Arg258Gln | Sanger | deleterious | 0.9427 | Krumm N, 2015 | |
| 3 | 39226658 | T | TG | c.4278dupC | p.Lys1427fs | Sanger sequencing | Takata A, 2018 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 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! | |||||||