Variant Details for JARID2
Basic Information Top
| Gene Symbol: | JARID2 ( JMJ ) |
|---|---|
| Gene Full Name: | jumonji, AT rich interactive domain 2 |
| Band: | 6p22.3 |
| Quick Links | Entrez ID:3720; OMIM: 601594; Uniprot ID:JARD2_HUMAN; ENSEMBL ID: ENSG00000008083; HGNC ID: 6196 |
| 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 | 3 | 2 | 1 | 0 | 0 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000071 | 6 | 6p22.3-25.2 | 3856431 | 18486521 | 14630090 | loss | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 6 | 15517480 | TGATGTACC | T | Sanger sequencing | De Rubeis S, 2014 | ||||
| 6 | 15374368 | G | A | PCR or Sanger sequencing | Iossifov I, 2014 | ||||
| 6 | 15504762 | G | A | Sanger sequencing | neutral | 0.0832 | Yuen RK, 2016 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 6 | 15374368 | G | A | mosaic | PASM | Dou Y, 2017 |
| 6 | 15374368 | G | A | High-confidence mosaics | Resequencing | Lim ET, 2017 |
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 6 | 15496930 | C | T | Y | Cukier HN, 2014 |
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! | |||||||