Variant Details for SYNE1
Basic Information Top
| Gene Symbol: | SYNE1 ( 8B,ARCA1,C6orf98,CPG2,DKFZp781J13156,EDMD4,FLJ30878,FLJ41140,KIAA0796,KIAA1262,KIAA1756,MYNE1,SCAR8,dJ45H2.2 ) |
|---|---|
| Gene Full Name: | spectrin repeat containing, nuclear envelope 1 |
| Band: | 6q25.2 |
| Quick Links | Entrez ID:23345; OMIM: 608441; Uniprot ID:SYNE1_HUMAN; ENSEMBL ID: ENSG00000131018; HGNC ID: 17089 |
| 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 | 0 | 8 | 1 | 1 | 0 | 0 | 10 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| No related data! | ||||||||
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 |
|---|---|---|---|---|---|---|---|---|---|
| 6 | 152823811 | c.845A>G | p.Tyr282Cys | Sanger sequencing | O'Roak BJ, 2011 | ||||
| 6 | 152771947 | G | A | c.3229C>T | p.Pro1077Ser | Sanger sequencing | neutral | 0.3053 | Jiang YH, 2013 |
| 6 | 152673328 | C | T | Sanger sequencing | deleterious | 0.6295 | De Rubeis S, 2014 | ||
| 6 | 152728223 | C | T | Sanger sequencing | neutral | 0.021 | De Rubeis S, 2014 | ||
| 6 | 152771947 | G | A | Sanger sequencing | neutral | 0.3053 | Yuen RK, 2016 | ||
| 6 | 152670734 | G | A | Sanger and Sequenom | Michaelson JJ, 2012 | ||||
| 6 | 152728223 | C | T | c.6670GTT>ATT | p.2224V>I | neutral | 0.021 | Fromer M, 2014 | |
| 6 | 152771947 | c.C3229T | neutral | 0.3053 | Jiang YH, 2013 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 6 | 152782817 | G | A | Mosaic | Krupp DR, 2017 |
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 6 | 152779933 | G | A | Y | Cukier HN, 2014 |
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! | |||||||