Variant Details for MECP2
Basic Information Top
| Gene Symbol: | MECP2 ( AUTSX3,DKFZp686A24160,MRX16,MRX79,MRXS13,MRXSL,PPMX,RS,RTS,RTT ) |
|---|---|
| Gene Full Name: | methyl CpG binding protein 2 (Rett syndrome) |
| Band: | Xq28 |
| Quick Links | Entrez ID:4204; OMIM: 300005; Uniprot ID:MECP2_HUMAN; ENSEMBL ID: ENSG00000169057; HGNC ID: 6990 |
| 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 | 2 | 9 | 1 | 7 | 3 | 0 | 22 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000727 | X | Xq28 | 153140483 | 153505672 | 365189 | gain | external link | Bremer, 2011 |
| AutCNV0005800 | X | gain | Woodbury-Smith M, 2017 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| X | 153296399 | G | A/G | c.916C>T | p.Arg294* | Sanger sequencing | Wang T, 2016 | ||
| X | 153296516 | G | A/G | c.799C>T | p.Arg255* | Sanger sequencing | Wang T, 2016 | ||
| X | 153296591 | C | CG | HiSeq X and Sanger | C Yuen RK, 2017 | ||||
| X | 153296070 | GGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGT | G | HiSeq X and Sanger | C Yuen RK, 2017 | ||||
| X | 153296591 | C | CG | HiSeq X and Sanger | C Yuen RK, 2017 | ||||
| X | 153296471 | G | A | c.844C>T | p.Arg282Unk | Sanger sequencing | Li J, 2017 | ||
| X | 153296824 | c.455C>T | p.P152L | Sanger sequencing | Wen Z, 2017 | ||||
| X | 153296399 | c.880C>T | p.R294X | Sanger sequencing | Wen Z, 2017 | ||||
| 0 | c.27-6C>G | Bowling KM, 2017 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| X | 153296824 | C | A | Curie A, 2017 |
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| X | 153296711 | McCarthy SE, 2014 | |||||||
| X | 153296153 | c.1162C>T | p.P376S | Wen Z, 2017 | |||||
| X | 153296153 | G | A/G | Y | Wang T, 2016 | ||||
| X | 153296671 | G | A/G | Y | Wang T, 2016 | ||||
| X | 153296696 | C | C/T | Y | Wang T, 2016 | ||||
| X | 153296046 | G | C/G | Y | Wang T, 2016 | ||||
| c.456A>T | Y | Alvarez-Mora MI, 2016 |
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| Lobo-Menendez, 2003 | |||||||||
| Xi, 2011 | |||||||||
| Campos, 2011 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||