Variant Details for HDAC9
Basic Information Top
| Gene Symbol: | HDAC9 ( DKFZp779K1053,HD7,HD7b,HD9,HDAC,HDAC7,HDAC7B,HDAC9B,HDAC9FL,HDRP,KIAA0744,MITR ) |
|---|---|
| Gene Full Name: | histone deacetylase 9 |
| Band: | 7p21.1 |
| Quick Links | Entrez ID:9734; OMIM: 606543; Uniprot ID:HDAC9_HUMAN; ENSEMBL ID: ENSG00000048052; HGNC ID: 14065 |
| 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 | 1 | 0 | 0 | 8 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0001843 | 7 | 7p21.1 | 18484267 | 18524297 | 40030 | loss | external link | Pinto, 2010 |
| AutCNV0001842 | 7 | 7p21.1 | 17872093 | 18364112 | 492019 | gain | external link | Pinto, 2010 |
| AutCNV0000698 | 7 | 7p21.1 | 15233475 | 19533475 | 4300000 | loss | external link | Berkel, 2010 |
| AutCNV0003246 | 7 | 7p21.1 | 17831806 | 18344581 | 512775 | gain | external link | Gai, 2011 |
| AutCNV0003245 | 7 | 7p21.1 | 17831806 | 18343723 | 511917 | gain | external link | Gai, 2011 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 7 | 18885284 | A | G | Sanger sequencing | Yuen RK, 2016 | ||||
| 7 | 18212148 | C | T | Sequenom | Michaelson JJ, 2012 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 7 | 18624949 | C | T | Y | deleterious | 0.8287 | 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! | |||||||