Variant Details for MUC4
Basic Information Top
| Gene Symbol: | MUC4 ( HSA276359 ) |
|---|---|
| Gene Full Name: | mucin 4, cell surface associated |
| Band: | 3q29 |
| Quick Links | Entrez ID:4585; OMIM: 158372; Uniprot ID:MUC4_HUMAN; ENSEMBL ID: ENSG00000145113; HGNC ID: 7514 |
| 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 | 2 | 5 | 5 | 0 | 0 | 1 | 13 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000482 | 3 | 3q29 | 195399405 | 195623842 | 224437 | loss | external link | Gregory, 2009 |
| AutCNV0000716 | 3 | 3q27.2-q29 | 184984300 | 196342422 | 11358122 | loss | external link | Bremer, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 3 | 195505250 | G | A | c.12867C>T | p.Thr53Thr | Sanger sequencing | Neale BM, 2012 | ||
| 3 | 195515997 | G | T | Sanger sequencing | neutral | 0.0159 | De Rubeis S, 2014 | ||
| 3 | 195512768 | T | A | strong | neutral | 0.0012 | Iossifov I, 2014 | ||
| 3 | 195513364 | C | T | strong | neutral | 0.0099 | Iossifov I, 2014 | ||
| 3 | 195515198 | C | G | strong | neutral | 0.0064 | Iossifov I, 2014 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 3 | 195511844 | T | G | High-confidence mosaics | Resequencing | Lim ET, 2017 |
| 3 | 195510750 | G | A | High-confidence mosaics | Resequencing | Lim ET, 2017 |
| 3 | 195509511 | G | A | High-confidence mosaics | Resequencing | Lim ET, 2017 |
| 3 | 195512399 | G | T | High-confidence mosaics | Resequencing | Lim ET, 2017 |
| 3 | 195512542 | G | A | High-confidence mosaics | Resequencing | Lim ET, 2017 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000048 | 3q29 | 3 | D3S2418 | 2.45 | - | - | Risch, 1999 |