Variant Details for ABCA13
Basic Information Top
| Gene Symbol: | ABCA13 ( DKFZp313D2411,FLJ16398,FLJ33876,FLJ33951 ) |
|---|---|
| Gene Full Name: | ATP-binding cassette, sub-family A (ABC1), member 13 |
| Band: | 7p12.3 |
| Quick Links | Entrez ID:154664; OMIM: 607807; Uniprot ID:ABCAD_HUMAN; ENSEMBL ID: ENSG00000179869; HGNC ID: 14638 |
| 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 | 5 | 0 | 1 | 0 | 1 | 12 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000255 | 7 | 7p11.2-14.1 | 37533475 | 57396058 | 19862583 | gain | external link | Wolpert, 2001 |
| AutCNV0000884 | 7 | 7p12.3 | 48303297 | 48544033 | 240736 | loss | external link | Pinto, 2010 |
| AutCNV0001255 | 7 | 7p12.3 | 47973034 | 48999108 | 1026074 | loss | external link | Pinto, 2010 |
| AutCNV0003930 | 7 | 7p12.3 | 48294843 | 48417507 | 122664 | loss | external link | Levy, 2011 |
| AutCNV0003603 | 7 | 7p12.3 | 48303297 | 48544033 | 240736 | loss | external link | Gai, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 7 | 48390312 | A | G | c.10277A>G | p.Asn3426Ser | Sanger sequencing | deleterious | 0.5617 | Neale BM, 2012 |
| 7 | 48287839 | C | T | Sanger sequencing | neutral | 0.177 | De Rubeis S, 2014 | ||
| 7 | 48318773 | A | G | Sanger sequencing | neutral | 0.0545 | De Rubeis S, 2014 | ||
| 7 | 48335416 | C | T | Sanger sequencing | De Rubeis S, 2014 | ||||
| 7 | 48390312 | A | G | Sanger sequencing | deleterious | 0.5617 | De Rubeis S, 2014 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 7 | 48273776 | C | T | Y | Cukier HN, 2014 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000145 | 7p11.2-14.1 | 7 | - | - | 3.18 | - | Allen-Brady, 2008 |