Variant Details for CDC42BPB
Basic Information Top
| Gene Symbol: | CDC42BPB ( DKFZp686H1431,FLJ37601,FLJ44730,KIAA1124,MRCKB ) |
|---|---|
| Gene Full Name: | CDC42 binding protein kinase beta (DMPK-like) |
| Band: | 14q32.32 |
| Quick Links | Entrez ID:9578; OMIM: NA; Uniprot ID:MRCKB_HUMAN; ENSEMBL ID: ENSG00000198752; HGNC ID: 1738 |
| 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 | 4 | 1 | 0 | 0 | 0 | 5 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 14 | 103434646 | G | R | Sanger sequencing | O'Roak BJ, 2012 | ||||
| 14 | 103404494 | C | T | Sanger sequencing | neutral | 0.1053 | De Rubeis S, 2014 | ||
| 14 | 103405969 | T | C | p.Gln1602Arg | Sanger | deleterious | 0.9787 | Krumm N, 2015 | |
| 14 | 103442067 | ATTTCTTT | ATTT | HiSeq X and Sanger | C Yuen RK, 2017 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 14 | 103405969 | T | C | 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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||