Variant Details for YTHDC2
Basic Information Top
| Gene Symbol: | YTHDC2 ( - ) |
|---|---|
| Gene Full Name: | YTH domain containing 2 |
| Band: | 5q22.2 |
| Quick Links | Entrez ID:64848; OMIM: NA; Uniprot ID:YTDC2_HUMAN; ENSEMBL ID: ENSG00000047188; HGNC ID: 24721 |
| 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 | 1 | 4 | 0 | 0 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0004071 | 5 | 5q22.2 | 112911156 | 112943195 | 32039 | gain | external link | Levy, 2011 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 5 | 112868624 | C | Y | Sanger sequencing | O'Roak BJ, 2012 | ||||
| 5 | 112860714 | A | G | Sanger sequencing | De Rubeis S, 2014 | ||||
| 5 | 112899557 | C | T | Sanger sequencing | deleterious | 0.6882 | De Rubeis S, 2014 | ||
| 5 | 112878139 | A | G | c.1434A>G | p.Leu478Leu | Not_tested | 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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||