Variant Details for NUP188
Basic Information Top
| Gene Symbol: | NUP188 ( FLJ21639,KIAA0169 ) |
|---|---|
| Gene Full Name: | nucleoporin 188kDa |
| Band: | 9q34.11 |
| Quick Links | Entrez ID:23511; OMIM: NA; Uniprot ID:NU188_HUMAN; ENSEMBL ID: ENSG00000095319; HGNC ID: 17859 |
| 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 | 2 | 1 | 0 | 0 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000545 | 9 | 9q33.3-34.11 | 129888266 | 132486991 | 2598725 | loss | external link | Gregory, 2009 |
| AutCNV0000548 | 9 | 9q34.11 | 131053252 | 132486991 | 1433739 | gain | external link | Gregory, 2009 |
| AutCNV0000546 | 9 | 9q33.3-34.11 | 130027701 | 132620709 | 2593008 | loss | external link | Gregory, 2009 |
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 | 131721169 | A | G | Sanger sequencing | deleterious | 0.9731 | De Rubeis S, 2014 | ||
| 9 | 131752513 | C | T | strong | Iossifov I, 2014 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 9 | 131756681 | C | T | mosaic | PASM | Dou Y, 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! | |||||||