Variant Details for ULK1
Basic Information Top
| Gene Symbol: | ULK1 ( ATG1,ATG1A,FLJ38455,FLJ46475,UNC51,Unc51.1 ) |
|---|---|
| Gene Full Name: | unc-51-like kinase 1 (C. elegans) |
| Band: | 12q24.33 |
| Quick Links | Entrez ID:8408; OMIM: 603168; Uniprot ID:ULK1_HUMAN; ENSEMBL ID: ENSG00000177169; HGNC ID: 12558 |
| 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 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000146 | 12 | 12q24.21-24.33 | 115707280 | 133777650 | 18070370 | gain | external link | Marshall, 2008 |
| AutCNV0000366 | 12 | 12q24.33 | 130134047 | 133779461 | 3645414 | external link | Zwaag, 2009 | |
| AutCNV0000365 | 12 | 12q24.33 | 130134047 | 133779461 | 3645414 | external link | Zwaag, 2009 | |
| AutCNV0004303 | 12 | 12q24.21-q24.33 | 115685617 | 133779461 | 18093844 | gain | external link | Sanders, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 12 | 132400965 | C | T | Sanger sequencing | neutral | 0.2474 | De Rubeis S, 2014 | ||
| 12 | 132400965 | C | T | c.1901CCG>CTG | p.634P>L | neutral | 0.2474 | Fromer M, 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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||