Variant Details for RB1CC1
Basic Information Top
| Gene Symbol: | RB1CC1 ( CC1,FIP200 ) |
|---|---|
| Gene Full Name: | RB1-inducible coiled-coil 1 |
| Band: | 8q11.23 |
| Quick Links | Entrez ID:9821; OMIM: 606837; Uniprot ID:RBCC1_HUMAN; ENSEMBL ID: ENSG00000023287; HGNC ID: 15574 |
| 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 | 5 | 1 | 0 | 0 | 0 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000217 | 8 | 8q11.23 | 53271328 | 53555371 | 284043 | gain | external link | Christian, 2008 |
| AutCNV0000174 | 8 | 8q11.23 | 53561892 | 53833571 | 271679 | gain | external link | Marshall, 2008 |
| AutCNV0000173 | 8 | 8q11.23 | 53318647 | 53603847 | 285200 | gain | external link | Marshall, 2008 |
| AutCNV0002695 | 8 | 8q11.23 | 53355625 | 53814090 | 458465 | gain | external link | Pinto, 2010 |
| AutCNV0003622 | 8 | 8q11.23 | 53376852 | 53566175 | 189323 | gain | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 8 | 53537291 | GT | GTT | HiSeq X and Sanger | C Yuen RK, 2017 |
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! | |||||||