Variant Details for WAC
Basic Information Top
| Gene Symbol: | WAC ( BM-016,MGC10753,PRO1741,Wwp4,bA48B24,bA48B24.1 ) |
|---|---|
| Gene Full Name: | WW domain containing adaptor with coiled-coil |
| Band: | 10p12.1 |
| Quick Links | Entrez ID:51322; OMIM: NA; Uniprot ID:WAC_HUMAN; ENSEMBL ID: ENSG00000095787; HGNC ID: 17327 |
| 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 | 0 | 0 | 2 | 8 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 10 | 28879673 | CAA | C | PCR or Sanger sequencing | Iossifov I, 2014 | ||||
| 10 | 28872407 | AAA | c.220_221delAAinsAAA | p.Asn74LysfsTer2 | Stessman HA, 2017 | ||||
| 10 | 28903528 | TCACA | TCA | HiSeq X and Sanger | C Yuen RK, 2017 | ||||
| 10 | 28903528 | TCA | T | HiSeq X and Sanger | C Yuen RK, 2017 | ||||
| 10 | 28879727 | GCAAGCAACA | c.576_585delGCAAGCAACA | p.Q192fs*31 | Tammimies K, 2015 | ||||
| 10 | 28879727 | GCAAGCAACA | c.576_585del | p.192_195del | Tammimies K, 2015 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000132 | 10p11.23-q11.21 | 10 | D10S1426/D10S1669 | - | - | 0.00421 | Lauritsen, 2006 |
| AutLD0000112 | 10p11.23-q11.23 | 10 | - | - | 1.89 | - | Spence, 2006 |