Variant Details for TRIM32
Basic Information Top
| Gene Symbol: | TRIM32 ( BBS11,HT2A,LGMD2H,TATIP ) |
|---|---|
| Gene Full Name: | tripartite motif-containing 32 |
| Band: | 9q33.1 |
| Quick Links | Entrez ID:22954; OMIM: 602290; Uniprot ID:TRI32_HUMAN; ENSEMBL ID: ENSG00000119401; HGNC ID: 16380 |
| 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 | 11 | 0 | 0 | 0 | 1 | 0 | 12 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0001283 | 9 | 9q33.1 | 119431463 | 119530849 | 99386 | loss | external link | Pinto, 2010 |
| AutCNV0004696 | 9 | 9q33.1 | loss | Lionel AC, 2014 | ||||
| AutCNV0004695 | 9 | 9q33.1 | loss | Lionel AC, 2014 | ||||
| AutCNV0004693 | 9 | 9q33.1 | loss | Lionel AC, 2014 | ||||
| AutCNV0004703 | 9 | 9q33.1 | loss | Lionel AC, 2014 | ||||
| AutCNV0004702 | 9 | 9q33.1 | loss | Lionel AC, 2014 | ||||
| AutCNV0004701 | 9 | 9q33.1 | loss | Lionel AC, 2014 | ||||
| AutCNV0004700 | 9 | 9q33.1 | gain | Lionel AC, 2014 | ||||
| AutCNV0004699 | 9 | 9q33.1 | loss | Lionel AC, 2014 | ||||
| AutCNV0004698 | 9 | 9q33.1 | loss | Lionel AC, 2014 | ||||
| AutCNV0004697 | 9 | 9q33.1 | loss | Lionel AC, 2014 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
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 |
|---|---|---|---|---|---|---|---|---|---|
| chr9 | 119460622 | 762(C>T) | R201C | Y | Lionel AC, 2014 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||