Variant Details for JMJD1C
Basic Information Top
| Gene Symbol: | JMJD1C ( DKFZp761F0118,FLJ14374,KIAA1380,RP11-10C13.2,TRIP8 ) |
|---|---|
| Gene Full Name: | jumonji domain containing 1C |
| Band: | 10q21.3 |
| Quick Links | Entrez ID:221037; OMIM: 604503; Uniprot ID:JHD2C_HUMAN; ENSEMBL ID: ENSG00000171988; HGNC ID: 12313 |
| 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 | 4 | 0 | 1 | 2 | 0 | 7 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 10 | 64967942 | T | C | c.2830A>G | p.Ile944Val | Sanger sequencing | neutral | 0.0479 | Neale BM, 2012 |
| 10 | 64967942 | T | C | Sanger sequencing | neutral | 0.0479 | De Rubeis S, 2014 | ||
| 10 | 64968221 | C | T | PCR or Sanger sequencing | neutral | 0.0479 | Iossifov I, 2014 | ||
| 10 | 65140206 | G | A | PCR or Sanger sequencing | 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 |
|---|---|---|---|---|---|---|---|---|---|
| c.6410A>T | p.E2137V | Bowling KM, 2017 |
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| Castermans, 2007 | |||||||||
| 10 | 64943294 | c.6997A>G | Y | Sáez MA, 2016 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||