Variant Details for KRT85
Basic Information Top
| Gene Symbol: | KRT85 ( HB5,Hb-5,KRTHB5,hHb5 ) |
|---|---|
| Gene Full Name: | keratin 85 |
| Band: | 12q13.13 |
| Quick Links | Entrez ID:3891; OMIM: 602767; Uniprot ID:KRT85_HUMAN; ENSEMBL ID: ENSG00000135443; HGNC ID: 6462 |
| 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 | 4 | 2 | 0 | 0 | 0 | 1 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000102 | 12 | 12q12-24.33 | 46092533 | 132022120 | 85929587 | gain | external link | Szatmari, 2007 |
| AutCNV0002791 | 12 | 12q13.13 | 52691103 | 52782141 | 91038 | gain | external link | Pinto, 2010 |
| AutCNV0002022 | 12 | 12q13.13 | 52691103 | 52782141 | 91038 | gain | external link | Pinto, 2010 |
| AutCNV0000932 | 12 | 12q13.13 | 52691103 | 52779391 | 88288 | gain | external link | Pinto, 2010 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 12 | 52756034 | C | T | PCR or Sanger sequencing | Iossifov I, 2014 | ||||
| 12 | 52754716 | G | A | c.1445C>T | p.Ala482Val | Not_tested | neutral | 0.0687 | 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000116 | 12q13.13 | 12 | - | - | 2.34 | - | Spence, 2006 |