Variant Details for POGZ
Basic Information Top
| Gene Symbol: | POGZ ( KIAA0461,MGC71543,SUHW5,ZNF280E,ZNF635,ZNF635m ) |
|---|---|
| Gene Full Name: | pogo transposable element with ZNF domain |
| Band: | 1q21.3 |
| Quick Links | Entrez ID:23126; OMIM: NA; Uniprot ID:POGZ_HUMAN; ENSEMBL ID: ENSG00000143442; HGNC ID: 18801 |
| 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 | 10 | 0 | 15 | 23 | 1 | 50 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000349 | 1 | 1q21.3 | 151333376 | 155033376 | 3700000 | external link | Zwaag, 2009 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 151379469 | G | GGTAC | Sanger sequencing | Neale BM, 2012 | ||||
| 1 | 151379469 | G | GGTAC | Sanger sequencing | De Rubeis S, 2014 | ||||
| 1 | 151384237 | T | C | PCR or Sanger sequencing | deleterious | 0.5482 | Iossifov I, 2014 | ||
| 1 | 151378386 | p.Gln1042Arg | Sanger sequencing | Hashimoto R, 2016 | |||||
| 1 | 151379747 | C | C/T | c.2369G>A | p.Ser746Asn | Sanger sequencing | Wang T, 2016 | ||
| 1 | 151402109 | G | G/A | c.538C>T | p.Gln127* | Sanger sequencing | Wang T, 2016 | ||
| 1 | 151380659 | G | c.2131_2132delCCinsC | p.Pro711LeufsTer27 | Stessman HA, 2017 | ||||
| 1 | 151396736 | G | T | c.1053C>A | p.Tyr351Ter | Stessman HA, 2017 | |||
| 1 | 151402109 | G | A | c.379C>T | p.Gln127Unk | Sanger sequencing | Li J, 2017 | ||
| 1 | 151378393 | C | T | c.3118G>A | p.Glu1040Lys | Sanger sequencing | deleterious | 0.8927 | Takata A, 2018 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 151377852 | T | C/T | Y | Wang T, 2016 | ||||
| 1 | 151378920 | C | C/T | Y | Wang T, 2016 | ||||
| 1 | 151379390 | G | A/G | Y | Wang T, 2016 | ||||
| 1 | 151396521 | C | C/T | Y | Wang T, 2016 | ||||
| 1 | 151400517 | G | A/G | Y | Wang T, 2016 | ||||
| 1 | 151400407 | G | C/G | Y | Wang T, 2016 | ||||
| 1 | 151413476 | C | C/T | Y | Wang T, 2016 | ||||
| 1 | 151381291 | T | G/T | Y | Wang T, 2016 | ||||
| 1 | 151377304 | C | C/T | Y | Wang T, 2016 | ||||
| 1 | 151377709 | T | C/T | Y | Wang T, 2016 | ||||
| 1 | 151378123 | A | A/C | Y | Wang T, 2016 | ||||
| 1 | 151378168 | G | C/G | Y | Wang T, 2016 | ||||
| 1 | 151396522 | G | A/G | Y | Wang T, 2016 | ||||
| 1 | 151400701 | G | A/G | Y | Wang T, 2016 | ||||
| 1 | 151396503 | G | C/G | Y | Wang T, 2016 |
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| c.3118G4A | Glu1040Lys | Y | Fukai R, 2015 | ||||||
| c.2321_2324delCTCT | p.Ser774Cysfs*16 | White J, 2016 | |||||||
| c.2763dupC | p.Thr922Hisfs*22 | White J, 2016 | |||||||
| c.833C?>?G | p.Ser278* | White J, 2016 | |||||||
| c.2935C?>?T | p.Arg979* | White J, 2016 | |||||||
| c.2780dupT | p.Leu927Phefs*17 | White J, 2016 | |||||||
| c.2590C>T | p.Arg864* | Stessman HA, 2016 | |||||||
| c.3001C>T | p.Arg1001* | Stessman HA, 2016 | |||||||
| c.3456_3457del | p.Glu1154Thrfs*4 | Stessman HA, 2016 | |||||||
| c.2263del | p.Glu755Serfs*36 | Stessman HA, 2016 | |||||||
| c.1152dup | p.Arg385Serfs*4 | Stessman HA, 2016 | |||||||
| c.2432+1G>A | Stessman HA, 2016 | ||||||||
| c.2020del | p.Arg674Valfs*9 | Stessman HA, 2016 | |||||||
| c.2545+1del | Stessman HA, 2016 | ||||||||
| c.2836del | p.Asp946Metfs*12 | Stessman HA, 2016 | |||||||
| c.2574del | p.His858Glnfs*13 | Stessman HA, 2016 | |||||||
| c.3600_3607dupTGATGACG | p.Glu1203Valfs*28 | Stessman HA, 2016 | |||||||
| c.3022C>T | p.Arg1008* | Stessman HA, 2016 | |||||||
| c.1212C>A | p.Tyr404* | Stessman HA, 2016 | |||||||
| c.538C>T | p.Gln180* | Stessman HA, 2016 | |||||||
| c.3139G>T | p.Glu1047* | Stessman HA, 2016 | |||||||
| c.2291del | p.Pro764Leufs*27 | Stessman HA, 2016 | |||||||
| c.2396G>A | p.Ser799Asn | Stessman HA, 2016 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| AutLD0000040 | 1q21.3 | 1 | D1S498 | 2.32 | - | - | Auranen, 2002 |