Variant Details for SRBD1
Basic Information Top
| Gene Symbol: | SRBD1 ( FLJ10379 ) |
|---|---|
| Gene Full Name: | S1 RNA binding domain 1 |
| Band: | 2p21 |
| Quick Links | Entrez ID:55133; OMIM: NA; Uniprot ID:SRBD1_HUMAN; ENSEMBL ID: ENSG00000068784; HGNC ID: 25521 |
| 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 | 3 | 0 | 1 | 0 | 0 | 9 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000203 | 2 | 2p21 | 45455649 | 45984917 | 529268 | gain | external link | Christian, 2008 |
| AutCNV0004042 | 2 | 2p21 | 45409416 | 45975653 | 566237 | gain | external link | Levy, 2011 |
| AutCNV0003481 | 2 | 2p21 | 45408269 | 45981426 | 573157 | gain | external link | Gai, 2011 |
| AutCNV0003480 | 2 | 2p21 | 45405049 | 45974136 | 569087 | gain | external link | Gai, 2011 |
| AutCNV0004732 | 9 | loss | Lionel AC, 2014 |
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 | 45789855 | G | R | Sanger sequencing | O'Roak BJ, 2012 | ||||
| 2 | 45778322 | T | A | Sanger sequencing | deleterious | 0.5763 | De Rubeis S, 2014 | ||
| 2 | 45778322 | T | A | c.1617TTA>TTT | p.539L>F | deleterious | 0.5763 | Fromer M, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 2 | 45780792 | T | G | L496R | Toma C, 2014 |
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! | |||||||