Variant Details for DCAF13
Basic Information Top
Gene Symbol: | DCAF13 ( DKFZp564O0463,GM83,MGC126859,MGC138247,WDSOF1 ) |
---|---|
Gene Full Name: | DDB1 and CUL4 associated factor 13 |
Band: | 8q22.3 |
Quick Links | Entrez ID:25879; OMIM: NA; Uniprot ID:DCA13_HUMAN; ENSEMBL ID: ENSG00000164934; HGNC ID: 24535 |
Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic Top
Click 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 | 0 | 3 | 0 | 0 | 0 | 0 | 3 |
CNVs/SVs Top
CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
---|---|---|---|---|---|---|---|---|
No related data! |
NGS de novo Mutations Top
iFish (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 | 104439424 | T | G | c.1024T>G | p.Cys342Gly | Sanger sequencing | neutral | 0.005 | Jiang YH, 2013 |
8 | 104439424 | T | G | Sanger sequencing | neutral | 0.005 | Yuen RK, 2016 | ||
8 | 104439424 | c.T1024G | neutral | 0.005 | Jiang YH, 2013 |
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 |
---|---|---|---|---|---|---|---|
No related data! |