Variant Details for PINX1
Basic Information Top
| Gene Symbol: | PINX1 ( FLJ20565,LPTL,LPTS,MGC8850 ) |
|---|---|
| Gene Full Name: | PIN2/TERF1 interacting, telomerase inhibitor 1 |
| Band: | 8p23 |
| Quick Links | Entrez ID:54984; OMIM: 606505; Uniprot ID:PINX1_HUMAN; ENSEMBL ID: ENSG00000171056; HGNC ID: 30046 |
| 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 |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000271 | 8 | 8p23 | 10000 | 12655629 | 12645629 | loss | external link | Wassink, 2001 |
| AutCNV0000264 | 8 | 8p21-23 | 10000 | 29644081 | 29634081 | gain | external link | Papanikolaou, 2006 |
| AutCNV0001266 | 8 | 8p23.1 | 10611708 | 10698218 | 86510 | gain | external link | Pinto, 2010 |
| AutCNV0000752 | 8 | 8p23.1 | 10616580 | 10692158 | 75578 | loss | external link | Pinto, 2010 |
| AutCNV0003276 | 8 | 8p23.1 | 9781262 | 11076635 | 1295373 | gain | external link | Gai, 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! | |||||||