Variant Details for PEX11B
Basic Information Top
| Gene Symbol: | PEX11B ( PEX11-BETA ) |
|---|---|
| Gene Full Name: | peroxisomal biogenesis factor 11 beta |
| Band: | 1q21.1 |
| Quick Links | Entrez ID:8799; OMIM: 603867; Uniprot ID:PX11B_HUMAN; ENSEMBL ID: ENSG00000131779; HGNC ID: 8853 |
| 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 | 1 | 0 | 1 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0001486 | 1 | 1q21.1 | 145379658 | 145748199 | 368541 | gain | external link | Pinto, 2010 |
| AutCNV0001183 | 1 | 1q21.1 | 145388137 | 145916502 | 528365 | loss | external link | Pinto, 2010 |
| AutCNV0000987 | 1 | 1q21.1 | 145323398 | 145762959 | 439561 | gain | external link | Pinto, 2010 |
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 | 145517271 | A | G | Sanger | Krumm N, 2015 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| c.148_149del | p.(S50Pfs*13) | Trujillano D, 2017 |
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! | |||||||