Variant Details for MYCBP2
Basic Information Top
| Gene Symbol: | MYCBP2 ( DKFZp686M08244,FLJ10106,FLJ13826,FLJ21597,FLJ21646,KIAA0916,PAM ) |
|---|---|
| Gene Full Name: | MYC binding protein 2 |
| Band: | 13q22.3 |
| Quick Links | Entrez ID:23077; OMIM: 610392; Uniprot ID:MYCB2_HUMAN; ENSEMBL ID: ENSG00000005810; HGNC ID: 23386 |
| 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 | 16 | 0 | 21 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000266 | 13 | 13q14-22 | 40602000 | 78901999 | 38299999 | loss | external link | Steele, 2001 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 13 | 77700568 | A | G | c.7769T>C | p.Met2590Thr | Sanger sequencing | neutral | 0.0089 | Neale BM, 2012 |
| 13 | 77700568 | A | G | Sanger sequencing | neutral | 0.0089 | De Rubeis S, 2014 | ||
| 13 | 77760058 | G | C | Sanger sequencing | De Rubeis S, 2014 | ||||
| 13 | 77831901 | C | T | Sanger sequencing | neutral | 0.0379 | Yuen RK, 2016 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| T | c.1625-19T>C | Y | Bahl S, 2013 | ||||||
| C | c.3982+31C>G | Y | Bahl S, 2013 | ||||||
| T | c.6727-16T>C | Y | Bahl S, 2013 | ||||||
| 13 | 77764453 | K1325R | Y | Bahl S, 2013 | |||||
| 13 | 77755922 | I1581V | Y | Bahl S, 2013 | |||||
| 13 | 77714277 | D2437N | Y | Bahl S, 2013 | |||||
| 13 | 77672744 | N2811D | Y | Bahl S, 2013 | |||||
| 13 | 77835444 | V534I | Y | Bahl S, 2013 | |||||
| 13 | 77835416 | K543R | Y | Bahl S, 2013 | |||||
| 13 | 77765917 | V1285I | Y | Bahl S, 2013 | |||||
| 13 | 77745761 | F1849C | Y | Bahl S, 2013 | |||||
| 13 | 77700625 | P2533L | Y | Bahl S, 2013 | |||||
| 13 | 77672767 | R2803H | Y | Bahl S, 2013 | |||||
| 13 | 77838156 | c.1625-19T>C | - | Y | Bahl S, 2013 | ||||
| 13 | 77779577 | c.3982+31C>G | - | Y | Bahl S, 2013 | ||||
| 13 | 77738691 | c.6727-16T>C | - | Y | Bahl S, 2013 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||