Variant Details for INTU
Basic Information Top
| Gene Symbol: | INTU ( FLJ41326,INT,KIAA1284,PDZD6,PDZK6 ) |
|---|---|
| Gene Full Name: | inturned planar cell polarity effector homolog (Drosophila) |
| Band: | 4q28.1 |
| Quick Links | Entrez ID:27152; OMIM: 610621; Uniprot ID:PDZD6_HUMAN; ENSEMBL ID: ENSG00000164066; HGNC ID: 29239 |
| 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 | 0 | 0 | 1 | 4 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 4 | 128595288 | C | T | c.1101C>T | p.Leu367Leu | Sanger sequencing | Neale BM, 2012 | ||
| 4 | 128595288 | C | T | Sanger sequencing | De Rubeis S, 2014 | ||||
| 4 | 128637320 | A | G | Sanger sequencing | 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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| AutLD0000085 | 4q28.1 | 4 | D4S3250 | - | 2.65 | - | Buxbaum, 2004 |