Variant Details for TPK1
Basic Information Top
| Gene Symbol: | TPK1 ( HTPK1,PP20 ) |
|---|---|
| Gene Full Name: | thiamin pyrophosphokinase 1 |
| Band: | 7q35 |
| Quick Links | Entrez ID:27010; OMIM: 606370; Uniprot ID:TPK1_HUMAN; ENSEMBL ID: ENSG00000196511; HGNC ID: 17358 |
| 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 | 5 | 1 | 0 | 1 | 0 | 1 | 8 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000515 | 7 | 7q34-35 | 143055622 | 144267119 | 1211497 | gain | external link | Gregory, 2009 |
| AutCNV0000524 | 7 | 7q35 | 143677153 | 144208065 | 530912 | gain | external link | Gregory, 2009 |
| AutCNV0000523 | 7 | 7q35 | 143677153 | 144208065 | 530912 | gain | external link | Gregory, 2009 |
| AutCNV0000520 | 7 | 7q35 | 143677153 | 144208065 | 530912 | loss | external link | Gregory, 2009 |
| AutCNV0000517 | 7 | 7q35 | 143559549 | 144267119 | 707570 | loss | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 7 | 144150703 | C | T | p.G223Arg | Sanger sequencing | neutral | 0.2719 | Sanders SJ, 2012 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 7 | 145657317 | T | C | Doan RN, 2016 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000003 | 7q35 | 7 | D7S2195 | 1.65 | - | - | McCauley, 2005 |