Variant Details for EXOC4
Basic Information Top
| Gene Symbol: | EXOC4 ( MGC27170,REC8,SEC8,SEC8L1,Sec8p ) |
|---|---|
| Gene Full Name: | exocyst complex component 4 |
| Band: | 7q33 |
| Quick Links | Entrez ID:60412; OMIM: 608185; Uniprot ID:EXOC4_HUMAN; ENSEMBL ID: ENSG00000131558; HGNC ID: 30389 |
| 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 | 1 | 0 | 0 | 0 | 1 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0002671 | 7 | 7q33 | 133381365 | 133429911 | 48546 | loss | external link | Pinto, 2010 |
| AutCNV0003936 | 7 | 7q33 | 133573972 | 133721001 | 147029 | loss | external link | Levy, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 7 | 133689775 | A | G | Sanger sequencing | deleterious | 0.9235 | 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000121 | 7q33 | 7 | D7S495 | 1.66 | - | - | Shao, 2002 |