Variant Details for ZNF292
Basic Information Top
| Gene Symbol: | ZNF292 ( FLJ13564,FLJ41479,KIAA0530,Nbla00365,ZFP292,ZN-16,Zn-15,bA393I2.3 ) |
|---|---|
| Gene Full Name: | zinc finger protein 292 |
| Band: | 6q14.3 |
| Quick Links | Entrez ID:23036; OMIM: NA; Uniprot ID:ZN292_HUMAN; ENSEMBL ID: ENSG00000188994; HGNC ID: 18410 |
| 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 | 3 | 3 | 0 | 27 | 0 | 1 | 34 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0004502 | 6 | 6q15 | 87913962 | 87925162 | 11200 | loss | external link | Nord, 2011 |
| AutCNV0003576 | 6 | 6q15 | 87564247 | 87915822 | 351575 | gain | external link | Gai, 2011 |
| AutCNV0004868 | 6 | 6q14.1-q15 | 83648997 | 88613065 | 4964068 | loss | external link | Quintela I, 2015 |
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 | 87925717 | C | T | c.265C>T | p.Arg89* | Sanger sequencing | Neale BM, 2012 | ||
| 6 | 87925717 | C | T | Sanger sequencing | De Rubeis S, 2014 | ||||
| 6 | 87965835 | G | GATCAC | c.2490_2494dup | p.Ser832Ilefs*28 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 6 | 87964463 | C | C/G | Y | Wang T, 2016 | ||||
| 6 | 87964539 | C | C/T | Y | Wang T, 2016 | ||||
| 6 | 87965556 | C | A/C | Y | Wang T, 2016 | ||||
| 6 | 87966031 | C | C/T | Y | Wang T, 2016 | ||||
| 6 | 87966319 | A | A/T | Y | Wang T, 2016 | ||||
| 6 | 87966735 | T | G/T | Y | Wang T, 2016 | ||||
| 6 | 87966747 | C | C/T | Y | Wang T, 2016 | ||||
| 6 | 87967891 | G | A/G | Y | Wang T, 2016 | ||||
| 6 | 87968182 | C | C/T | Y | Wang T, 2016 | ||||
| 6 | 87968293 | C | C/T | Y | Wang T, 2016 | ||||
| 6 | 87968399 | A | A/C | Y | Wang T, 2016 | ||||
| 6 | 87968779 | C | C/T | Y | Wang T, 2016 | ||||
| 6 | 87969586 | G | A/G | Y | Wang T, 2016 | ||||
| 6 | 87969813 | G | A/G | Y | Wang T, 2016 | ||||
| 6 | 87970455 | G | A/G | Y | Wang T, 2016 | ||||
| 6 | 87970684 | A | A/G | Y | Wang T, 2016 | ||||
| 6 | 87965853 | G | A/G | Y | Wang T, 2016 | ||||
| 6 | 87968401 | A | A/G | Y | Wang T, 2016 | ||||
| 6 | 87970921 | A | A/G | Y | Wang T, 2016 | ||||
| 6 | 87925621 | A | A/G | Y | Wang T, 2016 | ||||
| 6 | 87953317 | T | C/T | Y | Wang T, 2016 | ||||
| 6 | 87965560 | A | A/G | Y | Wang T, 2016 | ||||
| 6 | 87966129 | C | A/C | Y | Wang T, 2016 | ||||
| 6 | 87966408 | T | G/T | Y | Wang T, 2016 | ||||
| 6 | 87967776 | A | A/G | Y | Wang T, 2016 | ||||
| 6 | 87968363 | T | G/T | Y | Wang T, 2016 | ||||
| 6 | 87971379 | A | 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000099 | 6q15 | 6 | rs654559 | 2.49 | - | - | Ma, 2007 |