Variant Details for TLK1
Basic Information Top
| Gene Symbol: | TLK1 ( KIAA0137,PKU-beta ) |
|---|---|
| Gene Full Name: | tousled-like kinase 1 |
| Band: | 2q31.1 |
| Quick Links | Entrez ID:9874; OMIM: 608438; Uniprot ID:TLK1_HUMAN; ENSEMBL ID: ENSG00000198586; HGNC ID: 11841 |
| 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 | 1 | 1 | 0 | 0 | 0 | 4 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0001194 | 2 | 2q31.1 | 171355198 | 172118473 | 763275 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 2 | 171863055 | A | G | Sanger sequencing | deleterious | 0.6724 | De Rubeis S, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000030 | 2q31.1 | 2 | D2S2188 | 3.74 | - | - | Monaco, 2001 |
| AutLD0000071 | 2q31.1 | 2 | D2S335 | 1.2 | - | - | Buxbaum, 2001 |
| AutLD0000076 | 2q31.1-31.3 | 2 | D2S2314/D2S2310 | 2.54 | - | - | Lamb, 2005 |
| AutLD0000127 | 2q31.1 | 2 | D2S2381 | - | - | 0.00525 | Lauritsen, 2006 |