Variant Details for AGBL4
Basic Information Top
| Gene Symbol: | AGBL4 ( CCP6,FLJ14442 ) |
|---|---|
| Gene Full Name: | ATP/GTP binding protein-like 4 |
| Band: | 1p33 |
| Quick Links | Entrez ID:84871; OMIM: NA; Uniprot ID:CBPC6_HUMAN; ENSEMBL ID: ENSG00000186094; HGNC ID: 25892 |
| 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 | 14 | 1 | 0 | 0 | 0 | 0 | 15 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0001545 | 1 | 1p33 | 49915848 | 49998239 | 82391 | loss | external link | Pinto, 2010 |
| AutCNV0001175 | 1 | 1p33 | 49915848 | 49998239 | 82391 | loss | external link | Pinto, 2010 |
| AutCNV0000983 | 1 | 1p33 | 49915848 | 49998239 | 82391 | loss | external link | Pinto, 2010 |
| AutCNV0000982 | 1 | 1p33 | 49915848 | 49998239 | 82391 | loss | external link | Pinto, 2010 |
| AutCNV0000981 | 1 | 1p33 | 49915848 | 49998239 | 82391 | loss | external link | Pinto, 2010 |
| AutCNV0000980 | 1 | 1p33 | 49915848 | 49998239 | 82391 | loss | external link | Pinto, 2010 |
| AutCNV0000956 | 1 | 1p33 | 49915848 | 49998239 | 82391 | loss | external link | Pinto, 2010 |
| AutCNV0000780 | 1 | 1p33 | 49915848 | 49998239 | 82391 | loss | external link | Pinto, 2010 |
| AutCNV0000779 | 1 | 1p33 | 49915848 | 49998239 | 82391 | loss | external link | Pinto, 2010 |
| AutCNV0001547 | 1 | 1p33 | 49915848 | 49998239 | 82391 | loss | external link | Pinto, 2010 |
| AutCNV0000778 | 1 | 1p33 | 49913060 | 49998239 | 85179 | loss | external link | Pinto, 2010 |
| AutCNV0001546 | 1 | 1p33 | 49915848 | 49998239 | 82391 | loss | external link | Pinto, 2010 |
| AutCNV0000746 | 1 | 1p33 | 49915848 | 49998239 | 82391 | loss | external link | Bremer, 2011 |
| AutCNV0004465 | 1 | 1p33 | 49597680 | 49609528 | 11848 | loss | external link | Nord, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 49899272 | A | G | Sanger sequencing | Yuen RK, 2016 |
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! | |||||||