Variant Details for PHIP
Basic Information Top
| Gene Symbol: | PHIP ( DCAF14,FLJ20705,FLJ45918,MGC90216,WDR11,ndrp ) |
|---|---|
| Gene Full Name: | pleckstrin homology domain interacting protein |
| Band: | 6q14.1 |
| Quick Links | Entrez ID:55023; OMIM: 612870; Uniprot ID:PHIP_HUMAN; ENSEMBL ID: ENSG00000146247; HGNC ID: 15673 |
| 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 | 3 | 0 | 7 | 0 | 0 | 10 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 6 | 79650574 | TTC | T | c.5300_5301del | p.Arg1767Asnfs*2 | Sanger sequencing | Wang T, 2016 | ||
| 6 | 79725374 | T | c.1362C>A | p.Tyr454Ter | Stessman HA, 2017 | ||||
| 6 | 79735235 | CTTTAT | C | Y | Turner T, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 6 | 79655019 | T | G/T | Y | Wang T, 2016 | ||||
| 6 | 79692757 | T | C/T | Y | Wang T, 2016 | ||||
| 6 | 79650639 | A | A/G | Y | Wang T, 2016 | ||||
| 6 | 79679845 | A | A/T | Y | Wang T, 2016 | ||||
| 6 | 79695138 | T | C/T | Y | Wang T, 2016 | ||||
| 6 | 79697996 | C | C/T | Y | Wang T, 2016 | ||||
| 6 | 79727285 | G | A/G | 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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||