Variant Details for ZNF804A
Basic Information Top
| Gene Symbol: | ZNF804A ( C2orf10 ) |
|---|---|
| Gene Full Name: | zinc finger protein 804A |
| Band: | 2q32.1 |
| Quick Links | Entrez ID:91752; OMIM: 612282; Uniprot ID:Z804A_HUMAN; ENSEMBL ID: ENSG00000170396; HGNC ID: 21711 |
| 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 | 5 | 2 | 0 | 0 | 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 |
| AutCNV0000057 | 2 | 2q32.1 | 185476494 | 187066494 | 1590000 | gain | external link | Szatmari, 2007 |
| AutCNV0000056 | 2 | 2q32.1 | 184797494 | 186602494 | 1805000 | gain | external link | Szatmari, 2007 |
| AutCNV0000055 | 2 | 2q32.1 | 184444494 | 186602494 | 2158000 | gain | external link | Szatmari, 2007 |
| AutCNV0000410 | 2 | 2q32.1 | 184831755 | 186749255 | 1917500 | gain | external link | Gregory, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 2 | 185798420 | C | T | Sanger sequencing | deleterious | 0.9886 | De Rubeis S, 2014 | ||
| 2 | 185798420 | C | T | c.346CGC>TGC | p.116R>C | deleterious | 0.9886 | Fromer M, 2014 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000072 | 2q32.1 | 2 | D2S364 | 2.25 | - | - | Buxbaum, 2001 |