Variant Details for WDFY3
Basic Information Top
| Gene Symbol: | WDFY3 ( ALFY,KIAA0993,MGC16461,ZFYVE25 ) |
|---|---|
| Gene Full Name: | WD repeat and FYVE domain containing 3 |
| Band: | 4q21.23 |
| Quick Links | Entrez ID:23001; OMIM: NA; Uniprot ID:WDFY3_HUMAN; ENSEMBL ID: ENSG00000163625,ENSG00000250675,ENSG00000251089; HGNC ID: 20751 |
| 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 | 11 | 0 | 20 | 0 | 1 | 33 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000129 | 4 | 4q21 | 80420236 | 87220236 | 6800000 | loss | external link | Jacquemont, 2006 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 4 | 85719152 | T | A | PCR and MiSeq | Iossifov I, 2012 | ||||
| 4 | 85609385 | C | T | Sanger sequencing | neutral | 0.2294 | De Rubeis S, 2014 | ||
| 4 | 85742365 | T | A | Sanger sequencing | deleterious | 0.9134 | De Rubeis S, 2014 | ||
| 4 | 85605095 | C | - | Sanger sequencing | Yuen RK, 2016 | ||||
| 4 | 85750232 | C | C/T | c.881G>A | p.Ser294Asn | Sanger sequencing | Wang T, 2016 | ||
| 4 | 85678225 | G | A/G | c.5278C>T | p.Gln1760* | Sanger sequencing | Wang T, 2016 | ||
| 4 | 85781627 | G | A/G | Sanger sequencing | deleterious | 0.8595 | Wang T, 2016 | ||
| 4 | 85605093 | ACCC | ACC | HiSeq X and Sanger | C Yuen RK, 2017 | ||||
| 4 | 85605093 | AC | A | HiSeq X and Sanger | C Yuen RK, 2017 | ||||
| 0 | c.8864_8867dupTTGG | p.Phe2957Trpfs | Bowling KM, 2017 | ||||||
| 0 | Nilsson D, 2017 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 4 | 85598427 | G | A/G | Y | Wang T, 2016 | ||||
| 4 | 85600231 | C | C/T | Y | Wang T, 2016 | ||||
| 4 | 85645723 | C | C/T | Y | Wang T, 2016 | ||||
| 4 | 85672836 | C | C/T | Y | Wang T, 2016 | ||||
| 4 | 85708793 | T | C/T | Y | Wang T, 2016 | ||||
| 4 | 85708799 | T | C/T | Y | Wang T, 2016 | ||||
| 4 | 85731103 | G | A/G | Y | Wang T, 2016 | ||||
| 4 | 85741302 | T | A/T | Y | Wang T, 2016 | ||||
| 4 | 85742287 | T | C/T | Y | Wang T, 2016 | ||||
| 4 | 85716106 | G | C/G | Y | Wang T, 2016 | ||||
| 4 | 85661476 | C | C/T | Y | Wang T, 2016 | ||||
| 4 | 85603536 | C | C/T | Y | Wang T, 2016 | ||||
| 4 | 85617311 | C | C/T | Y | Wang T, 2016 | ||||
| 4 | 85626640 | T | A/T | Y | Wang T, 2016 | ||||
| 4 | 85672820 | G | A/G | Y | Wang T, 2016 | ||||
| 4 | 85674885 | C | C/T | Y | Wang T, 2016 | ||||
| 4 | 85676502 | C | C/T | Y | Wang T, 2016 | ||||
| 4 | 85715830 | T | C/T | Y | Wang T, 2016 | ||||
| 4 | 85741301 | G | A/G | Y | Wang T, 2016 | ||||
| 4 | 85748081 | T | C/T | Y | Wang T, 2016 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000012 | 4q21.23-22.3 | 4 | D4S2361/D4S2909 | 1.72 | - | - | Yonan, 2003 |