Variant Details for ELL
Basic Information Top
| Gene Symbol: | ELL ( C19orf17,DKFZp434I1916,ELL1,MEN ) |
|---|---|
| Gene Full Name: | elongation factor RNA polymerase II |
| Band: | 19p13.11 |
| Quick Links | Entrez ID:8178; OMIM: 600284; Uniprot ID:ELL_HUMAN; ENSEMBL ID: ENSG00000105656; HGNC ID: 23114 |
| 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 | 2 | 0 | 0 | 0 | 2 | 4 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 19 | 18576690 | C | T | c.222G>A | p.Ala74Ala | Sanger sequencing | Neale BM, 2012 | ||
| 19 | 18557559 | G | C | c.1531C>G | p.Leu511Val | Not_tested | neutral | 0.1647 | Takata A, 2018 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000010 | 19p13.11 | 19 | D19S930 | 2.55 | - | - | McCauley, 2005 |
| AutLD0000011 | 19p13.11 | 19 | D19S113 | 2.2 | - | - | McCauley, 2005 |