Variant Details for CUL3
Basic Information Top
| Gene Symbol: | CUL3 ( - ) |
|---|---|
| Gene Full Name: | cullin 3 |
| Band: | 2q36.2 |
| Quick Links | Entrez ID:8452; OMIM: 603136; Uniprot ID:CUL3_HUMAN; ENSEMBL ID: ENSG00000036257; HGNC ID: 2553 |
| 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 | 1 | 3 | 0 | 1 | 1 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000253 | 2 | 2q35 | 224686460 | 226111625 | 1425165 | loss | external link | Borg, 2002 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 2 | 225376218 | C | M | Sanger sequencing | O'Roak BJ, 2012 | ||||
| 2 | 225370672 | C | A/C | c.1008+1G>T | Sanger sequencing | Wang T, 2016 | |||
| 2 | 225378301 | CTTCG | c.387_395delCGAAGGAAGinsCGAAG | p.Gly131AspfsTer28 | Stessman HA, 2017 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| p.H719R | Y | Codina-Sol, 2015 |
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 2 | 225362541 | G | A | R546X | Kong A, 2012 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||