Variant Details for TLR3
Basic Information Top
| Gene Symbol: | TLR3 ( CD283 ) |
|---|---|
| Gene Full Name: | toll-like receptor 3 |
| Band: | 4q35.1 |
| Quick Links | Entrez ID:7098; OMIM: 603029; Uniprot ID:TLR3_HUMAN; ENSEMBL ID: ENSG00000164342; HGNC ID: 11849 |
| 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 | 4 | 1 | 0 | 0 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000061 | 4 | 4q35.1-35.2 | 185433851 | 188934851 | 3501000 | gain | external link | Szatmari, 2007 |
| AutCNV0000060 | 4 | 4q34.3-35.2 | 181840851 | 187856851 | 6016000 | gain | external link | Szatmari, 2007 |
| AutCNV0002516 | 4 | 4q35.1 | 186983342 | 187054136 | 70794 | gain | external link | Pinto, 2010 |
| AutCNV0001731 | 4 | 4q35.1-35.2 | 186931910 | 187122009 | 190099 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 4 | 186997803 | TGGGGGGG | TGGGGGG | 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! | |||||||