Variant Details for CGNL1
Basic Information Top
| Gene Symbol: | CGNL1 ( FLJ14957,JACOP,KIAA1749,MGC138254 ) |
|---|---|
| Gene Full Name: | cingulin-like 1 |
| Band: | 15q21.3 |
| Quick Links | Entrez ID:84952; OMIM: 607856; Uniprot ID:CGNL1_HUMAN; ENSEMBL ID: ENSG00000128849; HGNC ID: 25931 |
| 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 | 2 | 0 | 0 | 0 | 3 | 10 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000110 | 15 | 15q21.2-26.3 | 51558408 | 102352477 | 50794069 | gain | external link | Szatmari, 2007 |
| AutCNV0000028 | 15 | 15q21.2-26.3 | 51558408 | 102352477 | 50794069 | gain | external link | Szatmari, 2007 |
| AutCNV0002099 | 15 | 15q21.3 | 57644267 | 57775826 | 131559 | gain | external link | Pinto, 2010 |
| AutCNV0000686 | 15 | 15q21.3 | 53312708 | 58012708 | 4700000 | loss | external link | Berkel, 2010 |
| AutCNV0003983 | 15 | 15q21.3 | 57643079 | 57780188 | 137109 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 15 | 57815788 | G | T | p.Met939Ile | Sanger | neutral | 0.3128 | Krumm N, 2015 | |
| 15 | 57810657 | G | C | c.2677G>C | p.Ala893Pro | Not_tested | deleterious | 0.8076 | 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000137 | 15q21.3 | 15 | D15S998/D15S198 | - | - | 0.00276 | Lauritsen, 2006 |
| AutLD0000157 | 15q21.2-q22.1 | 15 | rs11856 | 5.31 | - | - | Allen-Brady, 2010 |
| AutLD0000158 | 15q21.1-q22.2 | 15 | rs383902 | 1.49 | - | - | Allen-Brady, 2010 |