Variant Details for FOXK2
Basic Information Top
| Gene Symbol: | FOXK2 ( ILF,ILF-1,ILF1 ) |
|---|---|
| Gene Full Name: | forkhead box K2 |
| Band: | 17q25.3 |
| Quick Links | Entrez ID:3607; OMIM: 147685; Uniprot ID:FOXK2_HUMAN; ENSEMBL ID: ENSG00000141568; HGNC ID: 6036 |
| 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 | 3 | 1 | 0 | 0 | 1 | 9 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000643 | 17 | 17q25.3 | 80032268 | 81048189 | 1015921 | loss | external link | Gregory, 2009 |
| AutCNV0000642 | 17 | 17q25.3 | 80032268 | 81048189 | 1015921 | loss | external link | Gregory, 2009 |
| AutCNV0000641 | 17 | 17q25.3 | 80032268 | 81048189 | 1015921 | loss | external link | Gregory, 2009 |
| AutCNV0004159 | 17 | 17q25.3 | 80444344 | 80691433 | 247089 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 17 | 80543909 | C | T | Sanger sequencing | deleterious | 0.9751 | De Rubeis S, 2014 | ||
| 17 | 80544976 | G | A | Sanger sequencing | De Rubeis S, 2014 | ||||
| 17 | 80540643 | G | C | PCR or Sanger sequencing | Iossifov I, 2014 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|