Variant Details for MADD
Basic Information Top
| Gene Symbol: | MADD ( DENN,FLJ35600,FLJ36300,IG20,KIAA0358,RAB3GEP ) |
|---|---|
| Gene Full Name: | MAP-kinase activating death domain |
| Band: | 11p11.2 |
| Quick Links | Entrez ID:8567; OMIM: 603584; Uniprot ID:MADD_HUMAN; ENSEMBL ID: ENSG00000110514; HGNC ID: 6766 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|
| 11 | 47304002 | C | T | c.1540C>T | p.Arg514Cys | Sanger sequencing | deleterious | 0.975 | Sanders SJ, 2012 |
| 11 | 47296389 | G | T | PCR or Sanger sequencing | neutral | 0.0174 | 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000015 | 11p11.2-13 | 11 | D11S1392/D11S1993 | 2.24 | - | - | Yonan, 2003 |
| AutLD0000114 | 11p11.2 | 11 | - | - | 2.11 | - | Spence, 2006 |