Variant Details for NCKAP1
Basic Information Top
| Gene Symbol: | NCKAP1 ( FLJ11291,HEM2,KIAA0587,MGC8981,NAP1,NAP125 ) |
|---|---|
| Gene Full Name: | NCK-associated protein 1 |
| Band: | 2q32.1 |
| Quick Links | Entrez ID:10787; OMIM: 604891; Uniprot ID:NCKP1_HUMAN; ENSEMBL ID: ENSG00000061676; HGNC ID: 7666 |
| 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 | 2 | 3 | 0 | 2 | 0 | 1 | 8 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000261 | 2 | 2q32.1-32.3 | 182991755 | 197391755 | 14400000 | loss | external link | Gallagher, 2003 |
| AutCNV0002402 | 2 | 2q32.1 | 183068844 | 184407963 | 1339119 | gain | external link | Pinto, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 2 | 183791570 | C | A | PCR and MiSeq | Iossifov I, 2012 | ||||
| 2 | 183866861 | C | CCA | c.522_523dupTG | p.Gly175ValfsTer14 | PCR and Sanger sequencing | O'Roak BJ, 2014 | ||
| 2 | 183792844 | C | C/T | c.3180+1G>A | Sanger sequencing | Wang T, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 2 | 183867721 | C | A/C | Y | Wang T, 2016 | ||||
| 2 | 183848038 | A | A/C | 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000072 | 2q32.1 | 2 | D2S364 | 2.25 | - | - | Buxbaum, 2001 |