Variant Details for ADAMTSL1
Basic Information Top
| Gene Symbol: | ADAMTSL1 ( ADAMTSL-1,ADAMTSR1,C9orf94,DKFZp686L03130,FLJ35283,FLJ41032,FLJ46891,MGC118803,MGC118805,MGC40193,PUNCTIN ) |
|---|---|
| Gene Full Name: | ADAMTS-like 1 |
| Band: | 9p22.2-p22.1 |
| Quick Links | Entrez ID:92949; OMIM: 609198; Uniprot ID:ATL1_HUMAN; ENSEMBL ID: ENSG00000178031; HGNC ID: 14632 |
| 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 | 0 | 0 | 2 | 0 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000084 | 9 | 9p13.3-24.3 | 249391 | 33926500 | 33677109 | gain | external link | Szatmari, 2007 |
| AutCNV0004623 | 4 | 4q21.21 | 81610496 | 81850604 | 240108 | loss | external link | Davis, 2008 |
| AutCNV0004284 | 9 | 9p22.1 | 18655961 | 18660695 | 4734 | loss | external link | Sanders, 2011 |
| AutCNV0003301 | 9 | 9p22.1-22.2 | 18238314 | 18917251 | 678937 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 9 | 18496766 | A | C | Doan RN, 2016 | |||||
| 9 | 18496770 | G | C | Doan RN, 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! | |||||||