Variant Details for ARHGAP11A
Basic Information Top
| Gene Symbol: | ARHGAP11A ( KIAA0013,MGC70740 ) |
|---|---|
| Gene Full Name: | Rho GTPase activating protein 11A |
| Band: | 15q13.3 |
| Quick Links | Entrez ID:9824; OMIM: 610589; Uniprot ID:RHGBA_HUMAN; ENSEMBL ID: ENSG00000198826; HGNC ID: 15783 |
| 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 | 12 | 0 | 0 | 2 | 0 | 1 | 15 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000284 | 15 | 15q11-13 | gain | Wolpert, 2000 | ||||
| AutCNV0000273 | 15 | 15q11.2-13 | gain | Wassink, 2001 | ||||
| AutCNV0000272 | 15 | 15q11.2-13 | loss | Wassink, 2001 | ||||
| AutCNV0000258 | 15 | 15q11-13 | gain | Silva, 2002 | ||||
| AutCNV0000290 | 15 | 15q11-13 | gain | Keller, 2003 | ||||
| AutCNV0000287 | 15 | 15p11-q13 | 20330217 | 32990417 | 12660200 | gain | external link | Sahoo, 2005 |
| AutCNV0000010 | 15 | 15q11-13.33 | 20266957 | 32969479 | 12702522 | gain | external link | Sebat, 2007 |
| AutCNV0000279 | 15 | 15q11.2-13 | gain | Wassink, 2007 | ||||
| AutCNV0000268 | 15 | 15q11-13 | 25257428 | 33573585 | 8316157 | gain | external link | Kwasnicka-Crawford, 2007 |
| AutCNV0000016 | 15 | 15q11-13 | gain | Weiss, 2008 | ||||
| AutCNV0000676 | 15 | 15q11-13 | gain | Bremer, 2009 | ||||
| AutCNV0004313 | 15 | 15q11.2-q13.3 | 20266957 | 32969479 | 12702522 | gain | external link | Sanders, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|
| 15 | 32927988 | C | G | Y | neutral | 0.0906 | Nebel RA, 2015 | ||
| 15 | 32920998 | G | T | Y | neutral | 0.0437 | Nebel RA, 2015 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000155 | 15q13.1-q14 | 15 | rs8033248 | 4.09 | - | - | Allen-Brady, 2010 |