Variant Details for ABCA2
Basic Information Top
| Gene Symbol: | ABCA2 ( ABC2,MGC129761 ) |
|---|---|
| Gene Full Name: | ATP-binding cassette, sub-family A (ABC1), member 2 |
| Band: | 9q34.3 |
| Quick Links | Entrez ID:20; OMIM: 600047; Uniprot ID:Q9HC28_HUMAN; ENSEMBL ID: ENSG00000107331; HGNC ID: 32 |
| 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 | 5 | 1 | 2 | 0 | 0 | 3 | 11 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000550 | 9 | 9q34.13-34.3 | 134558770 | 141153431 | 6594661 | loss | external link | Gregory, 2009 |
| AutCNV0002742 | 9 | 9q34.3 | 139823670 | 139987350 | 163680 | gain | external link | Pinto, 2010 |
| AutCNV0002271 | 9 | 9q34.3 | 139368953 | 140418677 | 1049724 | gain | external link | Pinto, 2010 |
| AutCNV0001423 | 9 | 9q34.3 | 139385438 | 140216247 | 830809 | gain | external link | Pinto, 2010 |
| AutCNV0001422 | 9 | 9q34.3 | 139098175 | 140214243 | 1116068 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 9 | 139906388 | C | Y | Sanger sequencing | O'Roak BJ, 2012 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 9 | 139905870 | C | T | mosaic | PASM | Dou Y, 2017 |
| 9 | 139917312 | G | C | Low-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 |
|---|---|---|---|---|---|---|---|
| AutLD0000033 | 9q34.3 | 9 | D9S1826 | 1.46 | - | - | Monaco, 2001 |
| AutLD0000075 | 9q34.3 | 9 | D9S158 | 1.66 | - | - | Buxbaum, 2001 |
| AutLD0000079 | 9q34.3 | 9 | D9S158/D9S905 | 1.67 | - | - | Lamb, 2005 |