Variant Details for NBPF10
Basic Information Top
| Gene Symbol: | NBPF10 ( AB6,AG1,DKFZp564A057,DKFZp586O031,DKFZp686C1532,FLJ20719,FLJ43804,MGC182975 ) |
|---|---|
| Gene Full Name: | neuroblastoma breakpoint family, member 10 |
| Band: | 1q21.1 |
| Quick Links | Entrez ID:100132406; OMIM: NA; Uniprot ID:A6NDV3_HUMAN; ENSEMBL ID: ENSG00000163386; HGNC ID: 31992 |
| 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 | 0 | 0 | 0 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000390 | 1 | 1q21.1 | loss | Mefford, 2008 | ||||
| AutCNV0000401 | 1 | 1q21-22 | 145958564 | 148219890 | 2261326 | gain | external link | Gregory, 2009 |
| AutCNV0000457 | 1 | 1q21-22 | 148812194 | 150213454 | 1401260 | gain | external link | Gregory, 2009 |
| AutCNV0001498 | 1 | 1q21.1 | 148522283 | 149025760 | 503477 | gain | external link | Pinto, 2010 |
| AutCNV0004035 | 1 | 1q21.1 | 149037520 | 149458983 | 421463 | gain | 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! | |||||||