Variant Details for EIF3B
Basic Information Top
| Gene Symbol: | EIF3B ( EIF3-ETA,EIF3-P110,EIF3-P116,EIF3S9,MGC104664,MGC131875,PRT1 ) |
|---|---|
| Gene Full Name: | eukaryotic translation initiation factor 3, subunit B |
| Band: | 7p22.3 |
| Quick Links | Entrez ID:8662; OMIM: 603917; Uniprot ID:EIF3B_HUMAN; ENSEMBL ID: ENSG00000106263; HGNC ID: 3280 |
| 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 | 3 | 1 | 0 | 0 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000249 | 7 | 7p22.2-22.1 | 2133474 | 7233475 | 5100001 | loss | external link | Yu, 2002 |
| AutCNV0000502 | 7 | 7p22.2-22.3 | 10239 | 2436600 | 2426361 | loss | external link | Gregory, 2009 |
| AutCNV0003592 | 7 | 7p22.2 | 2290685 | 2705266 | 414581 | gain | external link | Gai, 2011 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 7 | 2416614 | C | G | PCR or Sanger sequencing | neutral | 0.0081 | Iossifov I, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 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! | |||||||