Variant Details for RXFP2
Basic Information Top
| Gene Symbol: | RXFP2 ( GPR106,GREAT,INSL3R,LGR8,LGR8.1,RXFPR2 ) |
|---|---|
| Gene Full Name: | relaxin/insulin-like family peptide receptor 2 |
| Band: | 13q13.1 |
| Quick Links | Entrez ID:122042; OMIM: 606655; Uniprot ID:RXFP2_HUMAN; ENSEMBL ID: ENSG00000133105; HGNC ID: 17318 |
| 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 | 0 | 0 | 1 | 0 | 0 | 3 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000265 | 13 | 13q12-13 | 29623000 | 39160000 | 9537000 | loss | external link | Smith, 2002 |
| AutCNV0003686 | 13 | 13q13.1 | 32258560 | 32345208 | 86648 | loss | external link | Gai, 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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
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 |
|---|---|---|---|---|---|---|---|---|---|
| 13 | 32366048 | C | G | I417M | Toma C, 2014 |
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! | |||||||