Variant Details for ASAH2
Basic Information Top
| Gene Symbol: | ASAH2 ( BCDase,HNAC1,MGC129777,NCDase ) |
|---|---|
| Gene Full Name: | N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 |
| Band: | 10q11.23 |
| Quick Links | Entrez ID:56624; OMIM: 611202; Uniprot ID:ASAH2_HUMAN; ENSEMBL ID: ENSG00000188611; HGNC ID: 18860 |
| 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 | 1 | 0 | 0 | 0 | 1 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000008 | 10 | 10q11.23-21.2 | 50892143 | 61808505 | 10916362 | gain | external link | Sebat, 2007 |
| AutCNV0001970 | 10 | 10q11.23 | 51785598 | 52162253 | 376655 | gain | external link | Pinto, 2010 |
| AutCNV0004288 | 10 | 10q11.23-q21.2 | 52002204 | 61820631 | 9818427 | gain | external link | Sanders, 2011 |
| AutCNV0004108 | 10 | 10q11.23 | 51956076 | 52164857 | 208781 | gain | external link | Levy, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 10 | 52005130 | * | 1I, +G | Sanger sequencing | O'Roak BJ, 2012 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000112 | 10p11.23-q11.23 | 10 | - | - | 1.89 | - | Spence, 2006 |