Variant Details for FN1
Basic Information Top
| Gene Symbol: | FN1 ( CIG,DKFZp686F10164,DKFZp686H0342,DKFZp686I1370,DKFZp686O13149,ED-B,FINC,FN,FNZ,GFND,GFND2,LETS,MSF ) |
|---|---|
| Gene Full Name: | fibronectin 1 |
| Band: | 2q35 |
| Quick Links | Entrez ID:2335; OMIM: 135600; Uniprot ID:FINC_HUMAN; ENSEMBL ID: ENSG00000115414; HGNC ID: 3778 |
| 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 | 1 | 4 | 1 | 0 | 0 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000262 | 2 | 2q33.3-35 | 207140599 | 217211052 | 10070453 | loss | external link | Pescucci, 2003 |
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 | 216259404 | C | T | c.3643G>A | p.Gly1215Ser | Sanger sequencing | neutral | 0.4875 | Neale BM, 2012 |
| 2 | 216259404 | C | T | Sanger sequencing | neutral | 0.4875 | De Rubeis S, 2014 | ||
| 2 | 216251636 | T | G | p.Asn1463Thr | Sanger | neutral | 0.4875 | Krumm N, 2015 | |
| 2 | 216239958 | C | T | c.6136G>A | p.Val2046Ile | Not_tested | neutral | 0.4875 | Takata A, 2018 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 2 | 216235029 | C | G | mosaic | PASM | Dou Y, 2017 |
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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||