Variant Details for FEZF1


Gene Symbol: | FEZF1 ( FEZ,ZNF312B ) |
---|---|
Gene Full Name: | FEZ family zinc finger 1 |
Band: | 7q31.32 |
Quick Links | Entrez ID:389549; OMIM: 613301; Uniprot ID:FEZF1_HUMAN; ENSEMBL ID: ENSG00000128610; HGNC ID: 22788 |
Relate to Another Database: | SFARIGene; denovo-db |


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 | 5 | 0 | 0 | 1 | 0 | 1 | 7 |


CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
---|---|---|---|---|---|---|---|---|
AutCNV0000143 | 7 | 7q31.1-32.2 | 113741049 | 129227770 | 15486721 | loss | external link | Marshall, 2008 |
AutCNV0000216 | 7 | 7q31.32 | 121210653 | 122152426 | 941773 | loss | external link | Christian, 2008 |
AutCNV0004269 | 7 | 7q31.1-q32.1 | 113547764 | 129034485 | 15486721 | loss | external link | Sanders, 2011 |
AutCNV0003795 | 7 | 7q31.31 | 119712764 | 125112764 | 5400000 | loss | external link | Okamoto, 2011 |
AutCNV0003611 | 7 | 7q31.32 | 121202222 | 122718038 | 1515816 | loss | external link | Gai, 2011 |


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! |


Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
---|---|---|---|---|---|---|
No related data! |


Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
---|---|---|---|---|---|---|---|---|---|
7 | 121944239 | Y | Chapman NH, 2015 |


Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
---|---|---|---|---|---|---|---|---|---|
No related data! |


Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
---|---|---|---|---|---|---|---|
AutLD0000153 | 7q31.31-q32.3 | 7 | rs1990790 | 1.97 | - | - | Allen-Brady, 2010 |