Variant Details for ARHGAP32
Basic Information Top
| Gene Symbol: | ARHGAP32 ( GC-GAP,GRIT,KIAA0712,MGC1892,PX-RICS,RICS,p200RhoGAP,p250GAP ) |
|---|---|
| Gene Full Name: | Rho GTPase activating protein 32 |
| Band: | 11q24.3 |
| Quick Links | Entrez ID:9743; OMIM: 608541; Uniprot ID:RHG32_HUMAN; ENSEMBL ID: ENSG00000134909; HGNC ID: 17399 |
| 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 | 4 | 2 | 0 | 23 | 0 | 0 | 29 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000093 | 11 | 11q23.2-25 | 113996790 | 134897790 | 20901000 | gain | external link | Szatmari, 2007 |
| AutCNV0004297 | 11 | 11q24.2-q25 | 127128729 | 132555164 | 5426435 | loss | external link | Sanders, 2011 |
| AutCNV0004126 | 11 | 11q24.3 | 128610607 | 128839286 | 228679 | gain | external link | Levy, 2011 |
| AutCNV0005098 | 8 | 8q22.2q22.3 | 100142380 | 103492901 | 3350521 | loss | external link | Sinajon P, 2015 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 11 | 128839782 | G | A | Sanger sequencing | deleterious | 0.704 | De Rubeis S, 2014 | ||
| 11 | 128840352 | CG | C | c.4713del | p.Glu1223Lysfs*22 | Sanger sequencing | Wang T, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 11 | 128838917 | G | G/T | Y | Wang T, 2016 | ||||
| 11 | 128839494 | T | C/T | Y | Wang T, 2016 | ||||
| 11 | 128840225 | G | A/G | Y | Wang T, 2016 | ||||
| 11 | 128840289 | T | C/T | Y | Wang T, 2016 | ||||
| 11 | 128840441 | C | C/G | Y | Wang T, 2016 | ||||
| 11 | 128842466 | C | C/T | Y | Wang T, 2016 | ||||
| 11 | 128842712 | T | C/T | Y | Wang T, 2016 | ||||
| 11 | 128842787 | C | C/T | Y | Wang T, 2016 | ||||
| 11 | 128843026 | A | A/T | Y | Wang T, 2016 | ||||
| 11 | 128843237 | C | A/C | Y | Wang T, 2016 | ||||
| 11 | 128843295 | C | C/T | Y | Wang T, 2016 | ||||
| 11 | 128844790 | G | C/G | Y | Wang T, 2016 | ||||
| 11 | 128848770 | T | C/T | Y | Wang T, 2016 | ||||
| 11 | 128963551 | T | C/T | Y | Wang T, 2016 | ||||
| 11 | 129062074 | C | C/T | Y | Wang T, 2016 | ||||
| 11 | 128840364 | T | C/T | Y | Wang T, 2016 | ||||
| 11 | 128842449 | G | A/G | Y | Wang T, 2016 | ||||
| 11 | 128840423 | T | C/T | Y | Wang T, 2016 | ||||
| 11 | 128840540 | G | A/G | Y | Wang T, 2016 | ||||
| 11 | 128844223 | C | C/T | Y | Wang T, 2016 | ||||
| 11 | 128844392 | C | C/G | Y | Wang T, 2016 | ||||
| 11 | 128851803 | A | A/C | Y | Wang T, 2016 | ||||
| 11 | 128934779 | G | A/G | Y | Wang T, 2016 |
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! | |||||||