Variant Details for MEGF11
Basic Information Top
| Gene Symbol: | MEGF11 ( DKFZp434L121,KIAA1781 ) |
|---|---|
| Gene Full Name: | multiple EGF-like-domains 11 |
| Band: | 15q22.31 |
| Quick Links | Entrez ID:84465; OMIM: 612454; Uniprot ID:MEG11_HUMAN; ENSEMBL ID: ENSG00000157890; HGNC ID: 29635 |
| 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 | 4 | 3 | 4 | 0 | 0 | 0 | 11 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000291 | 15 | 15q22-23 | 58012708 | 72612946 | 14600238 | loss | external link | Smith, 2000 |
| AutCNV0000274 | 15 | 15q22 | 58012708 | 67512946 | 9500238 | loss | external link | Wassink, 2001 |
| AutCNV0000110 | 15 | 15q21.2-26.3 | 51558408 | 102352477 | 50794069 | gain | external link | Szatmari, 2007 |
| AutCNV0000028 | 15 | 15q21.2-26.3 | 51558408 | 102352477 | 50794069 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 15 | 66198459 | G | A | c.2731C>T | p.Arg911Cys | Sanger sequencing | neutral | 0.4317 | Sanders SJ, 2012 |
| 15 | 66208524 | G | R | Sanger sequencing | O'Roak BJ, 2012 | ||||
| 15 | 66210324 | A | G | Sanger sequencing | neutral | 0.0465 | De Rubeis S, 2014 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 15 | 66198459 | G | A | mosaic | PASM | Dou Y, 2017 |
| 15 | 66198459 | G | A | High-confidence mosaics | Resequencing | Lim ET, 2017 |
| 15 | 66198459 | G | A | High-confidence mosaics | Resequencing | Lim ET, 2017 |
| 15 | 66210324 | A | G | Low-confidence mosaics | Resequencing | Lim ET, 2017 |
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! | |||||||