Variant Details for RNF123
Basic Information Top
| Gene Symbol: | RNF123 ( DKFZp686C2222,FLJ12565,KPC1,MGC163504 ) |
|---|---|
| Gene Full Name: | ring finger protein 123 |
| Band: | 3p21.31 |
| Quick Links | Entrez ID:63891; OMIM: NA; Uniprot ID:RN123_HUMAN; ENSEMBL ID: ENSG00000164068; HGNC ID: 21148 |
| 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 | 3 | 0 | 0 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000477 | 3 | 3p21.31 | 49499529 | 50530264 | 1030735 | gain | external link | Gregory, 2009 |
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 | 49743440 | A | R | Sanger sequencing | O'Roak BJ, 2012 | ||||
| 3 | 49753101 | A | G | Sanger sequencing | deleterious | 0.9794 | De Rubeis S, 2014 | ||
| 3 | 49737159 | TCC | - | Sanger sequencing | Yuen RK, 2016 |
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! | |||||||