Variant Details for TCERG1L
Basic Information Top
| Gene Symbol: | TCERG1L ( MGC126584 ) |
|---|---|
| Gene Full Name: | transcription elongation regulator 1-like |
| Band: | 10q26.3 |
| Quick Links | Entrez ID:256536; OMIM: NA; Uniprot ID:TCRGL_HUMAN; ENSEMBL ID: ENSG00000176769; HGNC ID: 23533 |
| 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 | 1 | 0 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000555 | 10 | 10q26.3 | 132726059 | 135524747 | 2798688 | loss | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 10 | 132915185 | G | A | p.Cys424Cys | Sanger sequencing | Sanders SJ, 2012 | |||
| 10 | 132965082 | C | T | Sanger sequencing | neutral | 0.0169 | Yuen RK, 2016 | ||
| 10 | 133109867 | C | T | c.32G>A | p.Arg11Gln | Not_tested | neutral | 0.0236 | Takata A, 2018 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 10 | 132944875 | C | G | High-confidence mosaics | Resequencing | Lim ET, 2017 |
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! | |||||||