Variant Details for CERCAM
Basic Information Top
Gene Symbol: | CERCAM ( CEECAM1,GLT25D3,MGC149620,MGC149621 ) |
---|---|
Gene Full Name: | cerebral endothelial cell adhesion molecule |
Band: | 9q34.11 |
Quick Links | Entrez ID:51148; OMIM: NA; Uniprot ID:GT253_HUMAN; ENSEMBL ID: ENSG00000167123; HGNC ID: 23723 |
Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic Top
Click 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 | 6 | 1 | 0 | 0 | 0 | 0 | 7 |
CNVs/SVs Top
CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
---|---|---|---|---|---|---|---|---|
AutCNV0000548 | 9 | 9q34.11 | 131053252 | 132486991 | 1433739 | gain | external link | Gregory, 2009 |
AutCNV0000547 | 9 | 9q34.11 | 130913685 | 131600376 | 686691 | loss | external link | Gregory, 2009 |
AutCNV0000546 | 9 | 9q33.3-34.11 | 130027701 | 132620709 | 2593008 | loss | external link | Gregory, 2009 |
AutCNV0000545 | 9 | 9q33.3-34.11 | 129888266 | 132486991 | 2598725 | loss | external link | Gregory, 2009 |
AutCNV0003822 | 9 | 9q34.11 | 130868096 | 131472539 | 604443 | gain | external link | Levy, 2011 |
AutCNV0004285 | 9 | 9q34.11 | 130869558 | 131469287 | 599729 | gain | external link | Sanders, 2011 |
NGS de novo Mutations Top
iFish (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 |
---|---|---|---|---|---|---|---|---|---|
9 | 131193745 | C | T | Sanger and Sequenom | Michaelson JJ, 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 |
---|---|---|---|---|---|---|---|---|---|
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! |