Variant Details for EFR3A
Basic Information Top
| Gene Symbol: | EFR3A ( DKFZp781J0562,KIAA0143 ) |
|---|---|
| Gene Full Name: | EFR3 homolog A (S. cerevisiae) |
| Band: | 8q24.22 |
| Quick Links | Entrez ID:23167; OMIM: 611798; Uniprot ID:EFR3A_HUMAN; ENSEMBL ID: ENSG00000132294; HGNC ID: 28970 |
| 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 | 2 | 0 | 1 | 1 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000082 | 8 | 8q22.3-24.3 | 104716824 | 142002818 | 37285994 | gain | external link | Szatmari, 2007 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 8 | 132982744 | T | C | c.1013T>C | p.Phe338Ser | Sanger sequencing | deleterious | 0.9888 | Sanders SJ, 2012 |
| 8 | 132952779 | G | A | Sanger sequencing | deleterious | 0.9932 | De Rubeis S, 2014 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 8 | 132658926 | TAAA | - | Doan RN, 2016 |
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 8 | 132998507 | A | G | M646V | N | neutral | 0.0433 | Gupta AR, 2014 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||