Variant Details for KDM5B
Basic Information Top
| Gene Symbol: | KDM5B ( CT31,FLJ10538,FLJ12459,FLJ12491,FLJ16281,FLJ23670,JARID1B,PLU-1,PLU1,PUT1,RBBP2H1A ) |
|---|---|
| Gene Full Name: | lysine (K)-specific demethylase 5B |
| Band: | 1q32.1 |
| Quick Links | Entrez ID:10765; OMIM: 605393; Uniprot ID:KDM5B_HUMAN; ENSEMBL ID: ENSG00000117139; HGNC ID: 18039 |
| 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 | 7 | 0 | 0 | 0 | 0 | 9 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000466 | 1 | 1q32.1 | 202211023 | 202783967 | 572944 | loss | external link | Gregory, 2009 |
| AutCNV0000465 | 1 | 1q32.1 | 202119078 | 202713682 | 594604 | gain | external link | Gregory, 2009 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 202724403 | G | GC | Sanger sequencing | De Rubeis S, 2014 | ||||
| 1 | 202742307 | C | G | Sanger sequencing | deleterious | 0.9843 | De Rubeis S, 2014 | ||
| 1 | 202710688 | G | A | PCR or Sanger sequencing | neutral | 0.1486 | Iossifov I, 2014 | ||
| 1 | 202711784 | T | TA | PCR or Sanger sequencing | Iossifov I, 2014 | ||||
| 1 | 202746219 | A | G | PCR or Sanger sequencing | deleterious | 0.9914 | Iossifov I, 2014 | ||
| 1 | 202727532 | TG | TGG | HiSeq X and Sanger | C Yuen RK, 2017 | ||||
| 1 | 202719900 | G | A | Chen R, 2017 |
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! | |||||||