Variant Details for SH3YL1
Basic Information Top
| Gene Symbol: | SH3YL1 ( DKFZp586F1318,FLJ39121,RAY ) |
|---|---|
| Gene Full Name: | SH3 domain containing, Ysc84-like 1 (S. cerevisiae) |
| Band: | 2p25.3 |
| Quick Links | Entrez ID:26751; OMIM: NA; Uniprot ID:SH3Y1_HUMAN; ENSEMBL ID: ENSG00000035115; HGNC ID: 29546 |
| 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 | 2 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000200 | 2 | 2p25.3 | 54074 | 1198910 | 1144836 | loss | external link | Christian, 2008 |
| AutCNV0001581 | 2 | 2p25.3 | 130357 | 266895 | 136538 | loss | external link | Pinto, 2010 |
| AutCNV0003097 | 2 | 2p25.3 | 18674 | 240630 | 221956 | gain | external link | Pinto, 2010 |
| AutCNV0003469 | 2 | 2p25.3 | 29443 | 1157068 | 1127625 | loss | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 2 | 234212 | C | T | Sanger sequencing | deleterious | 0.995 | De Rubeis S, 2014 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000070 | 2p25.3 | 2 | D2S319 | 1.2 | - | - | Buxbaum, 2001 |
| AutLD0000151 | 2p25.3-p24.1 | 2 | rs792065 | 1.87 | - | - | Allen-Brady, 2010 |