Variant Details for PLEC
Basic Information Top
| Gene Symbol: | PLEC ( EBS1,EBSO,HD1,PCN,PLEC1,PLEC1b,PLTN ) |
|---|---|
| Gene Full Name: | plectin |
| Band: | 8q24.3 |
| Quick Links | Entrez ID:5339; OMIM: 601282; Uniprot ID:PLEC_HUMAN; ENSEMBL ID: ENSG00000178209; HGNC ID: 9069 |
| 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 | 2 | 4 | 1 | 0 | 0 | 0 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0002264 | 8 | 8q24.3 | 144984956 | 145175529 | 190573 | loss | external link | Pinto, 2010 |
| AutCNV0001917 | 8 | 8q24.3 | 145007187 | 145063828 | 56641 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 8 | 144995364 | G | A | c.8529C>T | p.Pro2843Pro | Sanger sequencing | Neale BM, 2012 | ||
| 8 | 144995364 | G | A | Sanger sequencing | De Rubeis S, 2014 | ||||
| 8 | 144995036 | C | G | c.9364G>C | p.Glu3122Gln | Sanger sequencing | neutral | 0.0855 | Takata A, 2018 |
| 8 | 144998708 | G | A | deleterious | 0.7985 | Chen R, 2017 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 8 | 145008533 | G | A | 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! | |||||||