Variant Details for CELSR1
Basic Information Top
| Gene Symbol: | CELSR1 ( CDHF9,DKFZp434P0729,FMI2,HFMI2,ME2 ) |
|---|---|
| Gene Full Name: | cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) |
| Band: | 22q13.31 |
| Quick Links | Entrez ID:9620; OMIM: 604523; Uniprot ID:CELR1_HUMAN; ENSEMBL ID: ENSG00000075275; HGNC ID: 1850 |
| 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 | 8 | 1 | 1 | 1 | 0 | 0 | 11 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000296 | 22 | 22q13.3 | 44268667 | 51244566 | 6975899 | loss | external link | Goizet, 2000 |
| AutCNV0000282 | 22 | 22q13 | 37570054 | 51244566 | 13674512 | loss | external link | Prasad, 2000 |
| AutCNV0000277 | 22 | 22q13 | 37570054 | 51244566 | 13674512 | gain | external link | Wassink, 2001 |
| AutCNV0000015 | 22 | 22q13.31-13.33 | 46823508 | 51175739 | 4352231 | loss | external link | Sebat, 2007 |
| AutCNV0000660 | 22 | 22q13.31 | 46570251 | 46983970 | 413719 | loss | external link | Gregory, 2009 |
| AutCNV0004395 | 22 | 22q13.31-q13.33 | 46765363 | 51119017 | 4353654 | loss | external link | Sanders, 2011 |
| AutCNV0000710 | 22 | 22q13.2-qter | loss | Chen, 2011 | ||||
| AutCNV0004672 | 10 | loss | Bacchelli E, 2014 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 22 | 46795678 | T | G | Sanger sequencing | deleterious | 0.4518 | De Rubeis S, 2014 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 22 | 46777752 | C | T | High-confidence mosaics | Resequencing | Lim ET, 2017 |
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 22 | 46805736 | C | G | Q1659E | Toma C, 2014 |
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! | |||||||