Variant Details for USP18
Basic Information Top
| Gene Symbol: | USP18 ( ISG43,UBP43 ) |
|---|---|
| Gene Full Name: | ubiquitin specific peptidase 18 |
| Band: | 22q11.2 |
| Quick Links | Entrez ID:11274; OMIM: 607057; Uniprot ID:UBP18_HUMAN; ENSEMBL ID: ENSG00000184979; HGNC ID: 12616 |
| 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 | 7 | 1 | 0 | 0 | 0 | 1 | 9 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000269 | 22 | 22q11 | loss | Roubertie, 2001 | ||||
| AutCNV0000270 | 22 | 22q11 | loss | Niklasson, 2002 | ||||
| AutCNV0000392 | 22 | 22q11.2 | 17920000 | 25970000 | 8050000 | gain | external link | Ramelli, 2008 |
| AutCNV0000188 | 22 | 22q11.2 | 18640346 | 21461646 | 2821300 | loss | external link | Marshall, 2008 |
| AutCNV0000157 | 22 | 22q11.21 | 18640346 | 21461646 | 2821300 | loss | external link | Marshall, 2008 |
| AutCNV0004388 | 22 | 22q11.21 | 18634900 | 21456200 | 2821300 | loss | external link | Sanders, 2011 |
| AutCNV0004824 | 22 | 22q11.21 | 18657470 | 19024306 | 366836 | gain | external link | Chen CP, 2014 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 22 | 18650710 | C | T | p.Cys178Cys | Sanger sequencing | Sanders SJ, 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000028 | 22q11.21 | 22 | D22S264 | 1.3 | - | - | Bailey, 1998 |