Variant Details for RTF1
Basic Information Top
| Gene Symbol: | RTF1 ( GTL7,KIAA0252 ) |
|---|---|
| Gene Full Name: | Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) |
| Band: | 15q15.1 |
| Quick Links | Entrez ID:23168; OMIM: 611633; Uniprot ID:RTF1_HUMAN; ENSEMBL ID: ENSG00000137815; HGNC ID: 28996 |
| 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 | 2 | 0 | 0 | 0 | 1 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0002866 | 15 | 15q15.1 | 41661893 | 41750019 | 88126 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 15 | 41745214 | A | C | Sanger sequencing | neutral | 0.4068 | Neale BM, 2012 | ||
| 15 | 41745214 | A | C | Sanger sequencing | neutral | 0.4068 | De Rubeis S, 2014 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000156 | 15q14-q21.1 | 15 | rs723049 | 3.59 | - | - | Allen-Brady, 2010 |