Variant Details for UNC13B
Basic Information Top
| Gene Symbol: | UNC13B ( MGC133279,MGC133280,MUNC13,UNC13,Unc13h2,hmunc13 ) |
|---|---|
| Gene Full Name: | unc-13 homolog B (C. elegans) |
| Band: | 9p13.3 |
| Quick Links | Entrez ID:10497; OMIM: 605836; Uniprot ID:UN13B_HUMAN; ENSEMBL ID: ENSG00000198722; HGNC ID: 12566 |
| 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 | 2 | 2 | 0 | 1 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000361 | 9 | 9p13.3 | 32810000 | 36310000 | 3500000 | external link | Zwaag, 2009 | |
| AutCNV0004101 | 9 | 9p13.3 | 35171700 | 35241328 | 69628 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 9 | 35382420 | G | A | Sanger sequencing | De Rubeis S, 2014 | ||||
| 9 | 35231139 | C | G | PCR or Sanger sequencing | Iossifov I, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 9 | 35377646 | T | G | c.1770T>G | p.Ser590Arg | deleterious | 0.5810 | Bi C, 2012 |
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! | |||||||