Variant Details for ELP4
Basic Information Top
| Gene Symbol: | ELP4 ( C11orf19,FLJ20498,PAX6NEB,PAXNEB,dJ68P15A.1 ) |
|---|---|
| Gene Full Name: | elongation protein 4 homolog (S. cerevisiae) |
| Band: | 11p13 |
| Quick Links | Entrez ID:26610; OMIM: 606985; Uniprot ID:ELP4_HUMAN; ENSEMBL ID: ENSG00000109911; HGNC ID: 1171 |
| 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 | 12 | 0 | 0 | 1 | 0 | 1 | 14 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000707 | 11 | 11p14.2-13 | 26143424 | 31743424 | 5600000 | loss | external link | Shinawi, 2011 |
| AutCNV0004726 | 9 | loss | Lionel AC, 2014 | |||||
| AutCNV0005059 | 11 | 31488890 | 31607986 | 119096 | external link | Addis L, 2015 | ||
| AutCNV0005058 | 11 | 31460506 | 31655108 | 194602 | external link | Addis L, 2015 | ||
| AutCNV0005057 | 11 | 31742075 | 31870603 | 128528 | external link | Addis L, 2015 | ||
| AutCNV0005056 | 11 | 31705076 | 31747631 | 42555 | external link | Addis L, 2015 | ||
| AutCNV0005055 | 11 | 31495260 | 31546276 | 51016 | external link | Addis L, 2015 | ||
| AutCNV0005100 | 11 | 11q24.3q25 | gain | Maruani A, 2015 | ||||
| AutCNV0005062 | 11 | 31652219 | 31764393 | 112174 | external link | Addis L, 2015 | ||
| AutCNV0005061 | 11 | 31576768 | 31653568 | 76800 | external link | Addis L, 2015 | ||
| AutCNV0005060 | 11 | 31518924 | 31649475 | 130551 | external link | Addis L, 2015 | ||
| AutCNV0005054 | 16 | 16p11.2 | loss | Duyzend MH, 2016 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
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 |
|---|---|---|---|---|---|---|---|---|---|
| 11 | 31686481 | T | C | Doan RN, 2016 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000015 | 11p11.2-13 | 11 | D11S1392/D11S1993 | 2.24 | - | - | Yonan, 2003 |