Variant Details for MUC16
Basic Information Top
| Gene Symbol: | MUC16 ( CA125,FLJ14303 ) |
|---|---|
| Gene Full Name: | mucin 16, cell surface associated |
| Band: | 19p13.2 |
| Quick Links | Entrez ID:94025; OMIM: 606154; Uniprot ID:MUC16_HUMAN; ENSEMBL ID: ENSG00000181143; HGNC ID: 15582 |
| 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 | 4 | 0 | 0 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0004011 | 19 | 19p13.2 | 8975540 | 9006864 | 31324 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 19 | 9074510 | T | W | Sanger sequencing | O'Roak BJ, 2012 | ||||
| 19 | 9060456 | G | T | PCR or Sanger sequencing | neutral | 0.0024 | Iossifov I, 2014 | ||
| 19 | 9084772 | G | C | PCR or Sanger sequencing | neutral | 0.0156 | Iossifov I, 2014 | ||
| 19 | 8976388 | G | GTGC | c.42437_42439dupGCA | p.Cys14146_Thr14147insSer | Sanger sequencing | Takata A, 2018 |
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! | |||||||