Variant Details for PABPC4L
Basic Information Top
| Gene Symbol: | PABPC4L ( DKFZp686J06116 ) |
|---|---|
| Gene Full Name: | poly(A) binding protein, cytoplasmic 4-like |
| Band: | 4q28.3 |
| Quick Links | Entrez ID:132430; OMIM: NA; Uniprot ID:; ENSEMBL ID: ENSG00000250177; HGNC ID: 31955 |
| 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 |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000395 | 4 | 4q38.3 | 134871302 | 135192677 | 321375 | loss | external link | Morrow, 2008 |
| AutCNV0002510 | 4 | 4q28.3 | 134922365 | 135186960 | 264595 | loss | external link | Pinto, 2010 |
| AutCNV0002509 | 4 | 4q28.3 | 134922365 | 135186960 | 264595 | loss | external link | Pinto, 2010 |
| AutCNV0002508 | 4 | 4q28.3 | 134922365 | 135186960 | 264595 | loss | external link | Pinto, 2010 |
| AutCNV0002507 | 4 | 4q28.3 | 134918281 | 135186960 | 268679 | loss | external link | Pinto, 2010 |
| AutCNV0001722 | 4 | 4q28.3 | 134922365 | 135186960 | 264595 | loss | external link | Pinto, 2010 |
| AutCNV0001222 | 4 | 4q28.3 | 134922365 | 135186960 | 264595 | loss | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 4 | 135420890 | G | C | Sanger sequencing | Yuen RK, 2016 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000064 | 4q28.3 | 4 | D4S1575 | - | - | 0.005 | Schellenberg, 2006 |