Variant Details for CADM1
Basic Information Top
Gene Symbol: | CADM1 ( BL2,DKFZp686F1789,IGSF4,IGSF4A,MGC149785,MGC51880,NECL2,Necl-2,RA175,ST17,SYNCAM,TSLC1,sTSLC-1,sgIGSF,synCAM1 ) |
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Gene Full Name: | cell adhesion molecule 1 |
Band: | 11q23.3 |
Quick Links | Entrez ID:23705; OMIM: 605686; Uniprot ID:CADM1_HUMAN; ENSEMBL ID: ENSG00000182985; HGNC ID: 5951 |
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 | 1 | 0 | 1 | 1 | 1 | 0 | 4 |
CNVs/SVs Top
CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
---|---|---|---|---|---|---|---|---|
AutCNV0000093 | 11 | 11q23.2-25 | 113996790 | 134897790 | 20901000 | gain | external link | Szatmari, 2007 |
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 |
---|---|---|---|---|---|---|---|---|---|
No related data! |
NGS Mosaic Mutations Top
Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
---|---|---|---|---|---|---|
11 | 115102167 | C | T | mosaic | PASM | Dou Y, 2017 |
NGS Other Mutations Top
Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
---|---|---|---|---|---|---|---|---|---|
11 | 114799197 | G | T | Doan RN, 2016 |
Low-Scale Gene Mutations Top
Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
---|---|---|---|---|---|---|---|---|---|
Zhiling, 2008 |
Linkage Regions Top
Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
---|---|---|---|---|---|---|---|
No related data! |