Variant Details for ODZ1
Basic Information Top
Gene Symbol: | ODZ1 ( ODZ3,TEN-M1,TNM,TNM1 ) |
---|---|
Gene Full Name: | odz, odd Oz/ten-m homolog 1(Drosophila) |
Band: | Xq25 |
Quick Links | Entrez ID:10178; OMIM: 300588; Uniprot ID:TEN1_HUMAN; ENSEMBL ID: ENSG00000009694; HGNC ID: |
Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic Top
Click 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 | 0 | 1 | 1 | 0 | 0 | 3 |
CNVs/SVs Top
CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
---|---|---|---|---|---|---|---|---|
AutCNV0000135 | X | Xq25 | 120578433 | 123978433 | 3400000 | gain | external link | Jacquemont, 2006 |
NGS de novo Mutations Top
iFish (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 |
---|---|---|---|---|---|---|---|---|---|
No related data! |
NGS Mosaic Mutations Top
Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
---|---|---|---|---|---|---|
X | 123517756 | T | C | Mosaic | Krupp DR, 2017 |
NGS Other Mutations Top
Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
---|---|---|---|---|---|---|---|---|---|
X | 124028159 | C | A | c.521C>A | p.Ala174Asp | Nava C, 2012 |
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! |