Variant Details for UBE3C
Basic Information Top
| Gene Symbol: | UBE3C ( KIAA0010,KIAA10 ) |
|---|---|
| Gene Full Name: | ubiquitin protein ligase E3C |
| Band: | 7q36.3 |
| Quick Links | Entrez ID:9690; OMIM: NA; Uniprot ID:UBE3C_HUMAN; ENSEMBL ID: ENSG00000009335; HGNC ID: 16803 |
| 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 | 0 | 6 | 0 | 1 | 0 | 0 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| No related data! | ||||||||
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 | 157041114 | C | Y | Sanger sequencing | O'Roak BJ, 2012 | ||||
| 7 | 157041114 | C | Y | p.Ser845Phe | Sanger sequencing | O'Roak BJ, 2012 | |||
| 7 | 157049644 | T | K | p.Phe996Cys | Sanger sequencing | O'Roak BJ, 2012 | |||
| 7 | 157041159 | C | T | Sanger sequencing | deleterious | 0.9207 | Yuen RK, 2016 | ||
| 7 | 157356883 | T | p.Phe996Cys | O'Roak BJ, 2012 | |||||
| 7 | 157348353 | C | p.Ser845Phe | O'Roak BJ, 2012 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 7 | 157286838 | * | +A/* | p.Asn406LysfsX47 | O'Roak BJ, 2012 |
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! | |||||||