Variant Details for UNC80
Basic Information Top
| Gene Symbol: | UNC80 ( C2orf21,FLJ14677,FLJ33496,FLJ53903,KIAA1843,UNC-80 ) |
|---|---|
| Gene Full Name: | unc-80 homolog (C. elegans) |
| Band: | 2q34 |
| Quick Links | Entrez ID:285175; OMIM: 612636; Uniprot ID:UNC80_HUMAN; ENSEMBL ID: ENSG00000144406; HGNC ID: 26582 |
| 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 | 1 | 0 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000262 | 2 | 2q33.3-35 | 207140599 | 217211052 | 10070453 | loss | external link | Pescucci, 2003 |
| AutCNV0005043 | 2 | 2q33.3q34 | loss | Jang DH, 2015 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 2 | 210745771 | C | T | PCR and MiSeq | Iossifov I, 2012 | ||||
| 2 | 210834493 | C | T | c.7810C>T | p.Arg2604Ter | Stessman HA, 2017 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 2 | 210745771 | C | T | Low-confidence mosaics | Resequencing | Lim ET, 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! | |||||||