Variant Details for FASN
Basic Information Top
Gene Symbol: | FASN ( FAS,MGC14367,MGC15706,OA-519,SDR27X1 ) |
---|---|
Gene Full Name: | fatty acid synthase |
Band: | 17q25.3 |
Quick Links | Entrez ID:2194; OMIM: 600212; Uniprot ID:FAS_HUMAN; ENSEMBL ID: ENSG00000169710; HGNC ID: 3594 |
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 | 5 | 2 | 0 | 0 | 0 | 1 | 8 |
CNVs/SVs Top
CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
---|---|---|---|---|---|---|---|---|
AutCNV0000641 | 17 | 17q25.3 | 80032268 | 81048189 | 1015921 | loss | external link | Gregory, 2009 |
AutCNV0000643 | 17 | 17q25.3 | 80032268 | 81048189 | 1015921 | loss | external link | Gregory, 2009 |
AutCNV0000642 | 17 | 17q25.3 | 80032268 | 81048189 | 1015921 | loss | external link | Gregory, 2009 |
AutCNV0000808 | 17 | 17q25.3 | 79338469 | 80188978 | 850509 | gain | external link | Pinto, 2010 |
AutCNV0004363 | 17 | 17q25.3 | 79338469 | 80188978 | 850509 | gain | external link | Sanders, 2011 |
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 |
---|---|---|---|---|---|---|---|---|---|
17 | 80046097 | T | C | Sanger sequencing | deleterious | 0.5036 | De Rubeis S, 2014 | ||
17 | 80046737 | C | G | Sanger sequencing | deleterious | 0.9735 | Yuen RK, 2016 |
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 |
---|---|---|---|---|---|---|---|
AutLD0000044 | 17q25.3 | 17 | D17S784 | 1.67 | - | - | Auranen, 2002 |