Variant Details for MBTPS1
Basic Information Top
| Gene Symbol: | MBTPS1 ( KIAA0091,MGC138711,MGC138712,PCSK8,S1P,SKI-1 ) |
|---|---|
| Gene Full Name: | membrane-bound transcription factor peptidase, site 1 |
| Band: | 16q23.3-q24.1 |
| Quick Links | Entrez ID:8720; OMIM: 603355; Uniprot ID:MBTP1_HUMAN; ENSEMBL ID: ENSG00000140943; HGNC ID: 15456 |
| 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 | 0 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0002917 | 16 | 16q23.3 | 84046715 | 84126783 | 80068 | gain | external link | Pinto, 2010 |
| AutCNV0004357 | 16 | 16q23.3 | 83999817 | 84126358 | 126541 | loss | external link | Sanders, 2011 |
| AutCNV0004355 | 16 | 16q23.2-q24.1 | 81181180 | 86191464 | 5010284 | loss | external link | Sanders, 2011 |
| AutCNV0003854 | 16 | 16q23.2-q24.1 | 81177767 | 86193522 | 5015755 | loss | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|
| 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! | |||||||