Variant Details for BMP1
Basic Information Top
| Gene Symbol: | BMP1 ( FLJ44432,PCOLC,PCP,PCP2,TLD ) |
|---|---|
| Gene Full Name: | bone morphogenetic protein 1 |
| Band: | 8p21.3 |
| Quick Links | Entrez ID:649; OMIM: 112264; Uniprot ID:BMP1_HUMAN; ENSEMBL ID: ENSG00000168487; HGNC ID: 1067 |
| 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 | 3 | 1 | 0 | 0 | 0 | 1 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000264 | 8 | 8p21-23 | 10000 | 29644081 | 29634081 | gain | external link | Papanikolaou, 2006 |
| AutCNV0000680 | 8 | 8p21.2-p23.1 | 12241093 | 26707917 | 14466824 | gain | external link | Ozgen, 2009 |
| AutCNV0000700 | 8 | 8p21 | 19055720 | 29644081 | 10588361 | loss | external link | Berkel, 2010 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 8 | 22067161 | G | R | Sanger sequencing | O'Roak BJ, 2012 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000021 | 8p21.3 | 8 | D8S1786 | 1.43 | - | - | Bailey, 1998 |