Variant Details for PBX1
Basic Information Top
| Gene Symbol: | PBX1 ( DKFZp686B09108,MGC126627 ) |
|---|---|
| Gene Full Name: | pre-B-cell leukemia homeobox 1 |
| Band: | 1q23.3 |
| Quick Links | Entrez ID:5087; OMIM: 176310; Uniprot ID:PBX1_HUMAN; ENSEMBL ID: ENSG00000185630; HGNC ID: 8632 |
| 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 | 1 | 4 | 0 | 0 | 0 | 1 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000331 | 1 | 1q23.3-24.2 | 162573376 | 167543376 | 4970000 | loss | external link | Monica, 2007 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 164532514 | GT | G | Sanger sequencing | De Rubeis S, 2014 | ||||
| 1 | 164790805 | C | T | Sanger sequencing | deleterious | 0.7503 | De Rubeis S, 2014 | ||
| 1 | 164769051 | G | C | c.626G>C | p.Ser209Thr | Not_tested | deleterious | 0.9404 | Takata A, 2018 |
| 0 | Redin C, 2017 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000104 | 1q23.3 | 1 | D1S1677 | - | 2.25 | - | Ylisaukko-oja, 2006 |