Variant Details for PTK7
Basic Information Top
| Gene Symbol: | PTK7 ( CCK4 ) |
|---|---|
| Gene Full Name: | PTK7 protein tyrosine kinase 7 |
| Band: | 6p21.1 |
| Quick Links | Entrez ID:5754; OMIM: 601890; Uniprot ID:PTK7_HUMAN; ENSEMBL ID: ENSG00000112655; HGNC ID: 9618 |
| 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 | 4 | 0 | 1 | 0 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000699 | 6 | 6p21 | 29792021 | 45092022 | 15300001 | gain | external link | Berkel, 2010 |
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 | 43099768 | G | A | p.Arg276His | Sanger sequencing | deleterious | 0.6867 | Sanders SJ, 2012 | |
| 6 | 43107166 | A | C | Sanger sequencing | De Rubeis S, 2014 | ||||
| 6 | 43109471 | C | T | PCR or Sanger sequencing | Iossifov I, 2014 | ||||
| 6 | 43106896 | A | c.1386_1387delGAinsA | p.Asn463MetfsTer20 | Stessman HA, 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 | 43109472 | G | A | Y | neutral | 0.4854 | Turner TN, 2017 |
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! | |||||||