Variant Details for RLIM
Basic Information Top
| Gene Symbol: | RLIM ( DKFZp686N06224,FLJ25923,FLJ41093,FLJ42887,FLJ45986,MGC15161,NY-REN-43,RNF12 ) |
|---|---|
| Gene Full Name: | ring finger protein, LIM domain interacting |
| Band: | Xq13.2 |
| Quick Links | Entrez ID:51132; OMIM: 300379; Uniprot ID:RNF12_HUMAN; ENSEMBL ID: ENSG00000131263; HGNC ID: 13429 |
| 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 | 0 | 1 | 0 | 3 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000701 | X | Xq13.2 | 72283275 | 73883275 | 1600000 | gain | external link | Berkel, 2010 |
| AutCNV0005096 | 15 | 15q11.2q13.1 | 22754322 | 28941318 | 6186996 | gain | external link | Riikonen RS, 2016 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| X | 73812083 | T | C | c.1067A>G | Tyr356Cys | Y | deleterious | 0.8987 | T?nne E, 2015 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||