Variant Details for CAPRIN1
Basic Information Top
| Gene Symbol: | CAPRIN1 ( GPIAP1,GPIP137,M11S1,RNG105,caprin-1,p137GPI ) |
|---|---|
| Gene Full Name: | cell cycle associated protein 1 |
| Band: | 11p13 |
| Quick Links | Entrez ID:4076; OMIM: 601178; Uniprot ID:CAPR1_HUMAN; ENSEMBL ID: ENSG00000135387; HGNC ID: 6743 |
| 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 | 5 | 0 | 0 | 0 | 1 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0002765 | 11 | 11p13 | 34122057 | 34318749 | 196692 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 11 | 34107924 | C | T | c.1195C>T | p.Gln399Unk | Sanger sequencing | Jiang YH, 2013 | ||
| 11 | 34107924 | C | T | Sanger sequencing | Yuen RK, 2016 | ||||
| 11 | 34107924 | C | T | c.1195C>T | p.Gln399Ter | Stessman HA, 2017 | |||
| 11 | 34107923 | C | T | HiSeq X and Sanger | C Yuen RK, 2017 | ||||
| 11 | 34107924 | c.C1195T | Jiang YH, 2013 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000015 | 11p11.2-13 | 11 | D11S1392/D11S1993 | 2.24 | - | - | Yonan, 2003 |