Variant Details for SMCR8
Basic Information Top
| Gene Symbol: | SMCR8 ( FLJ34716,FLJ60657 ) |
|---|---|
| Gene Full Name: | Smith-Magenis syndrome chromosome region, candidate 8 |
| Band: | 17p11.2 |
| Quick Links | Entrez ID:140775; OMIM: NA; Uniprot ID:SMCR8_HUMAN; ENSEMBL ID: ENSG00000176994; HGNC ID: 17921 |
| 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 | 1 | 0 | 0 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000199 | 17 | 17p11.2 | 16527056 | 20482061 | 3955005 | gain | external link | Potocki, 2007 |
| AutCNV0000293 | 17 | 17p11.2 | 16457316 | 20524119 | 4066803 | gain | external link | Nakamine, 2008 |
| AutCNV0000374 | 17 | 17p11.2 | 15959275 | 22175873 | 6216598 | external link | Zwaag, 2009 | |
| AutCNV0000721 | 17 | 17p11.2 | 16532736 | 20464365 | 3931629 | gain | external link | Bremer, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 17 | 18221161 | GACA | GACACA | HiSeq X and Sanger | C Yuen RK, 2017 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 17 | 18220895 | C | T | mosaic | PASM | Dou Y, 2017 |
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! | |||||||