Variant Details for CASC4
Basic Information Top
| Gene Symbol: | CASC4 ( DKFZp459F1927,H63,MGC74708 ) |
|---|---|
| Gene Full Name: | cancer susceptibility candidate 4 |
| Band: | 15q15.3 |
| Quick Links | Entrez ID:113201; OMIM: NA; Uniprot ID:CASC4_HUMAN; ENSEMBL ID: ENSG00000166734; HGNC ID: 24892 |
| 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 | 5 | 0 | 0 | 1 | 0 | 1 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0002098 | 15 | 15q15.3 | 44538660 | 44620129 | 81469 | loss | external link | Pinto, 2010 |
| AutCNV0001480 | 15 | 15q15.3 | 44562886 | 44598642 | 35756 | loss | external link | Pinto, 2010 |
| AutCNV0001396 | 15 | 15q15.3 | 44562886 | 44595442 | 32556 | loss | external link | Pinto, 2010 |
| AutCNV0001395 | 15 | 15q15.3 | 44538660 | 44605539 | 66879 | loss | external link | Pinto, 2010 |
| AutCNV0000772 | 15 | 15q15.3 | 44562886 | 44599286 | 36400 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
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 |
|---|---|---|---|---|---|---|---|---|---|
| 15 | 44581428 | T | G | N67K | Toma C, 2014 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000156 | 15q14-q21.1 | 15 | rs723049 | 3.59 | - | - | Allen-Brady, 2010 |