Variant Details for ACY3
Basic Information Top
| Gene Symbol: | ACY3 ( ACY-3,HCBP1,MGC9740 ) |
|---|---|
| Gene Full Name: | aspartoacylase (aminocyclase) 3 |
| Band: | 11q13.2 |
| Quick Links | Entrez ID:91703; OMIM: NA; Uniprot ID:ACY3_HUMAN; ENSEMBL ID: ENSG00000132744; HGNC ID: 24104 |
| 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 | 0 | 0 | 0 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0001400 | 11 | 11q13.2 | 67364197 | 67607869 | 243672 | gain | external link | Pinto, 2010 |
| AutCNV0001304 | 11 | 11q13.2 | 67346743 | 67757350 | 410607 | gain | external link | Pinto, 2010 |
| AutCNV0003328 | 11 | 11q13.2 | 67347287 | 67673682 | 326395 | gain | external link | Gai, 2011 |
| AutCNV0003961 | 11 | 11q13.2 | 67363970 | 67800623 | 436653 | gain | external link | Levy, 2011 |
| AutCNV0003329 | 11 | 11q13.2 | 67352689 | 67715028 | 362339 | gain | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|
| 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! | |||||||