Variant Details for IQCE
Basic Information Top
| Gene Symbol: | IQCE ( 1700028P05Rik,KIAA1023,MGC41907 ) |
|---|---|
| Gene Full Name: | IQ motif containing E |
| Band: | 7p22.3 |
| Quick Links | Entrez ID:23288; OMIM: NA; Uniprot ID:IQCE_HUMAN; ENSEMBL ID: ENSG00000106012; HGNC ID: 29171 |
| 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 | 3 | 2 | 0 | 0 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000249 | 7 | 7p22.2-22.1 | 2133474 | 7233475 | 5100001 | loss | external link | Yu, 2002 |
| AutCNV0003240 | 7 | 7p22.2 | 2652630 | 3053209 | 400579 | gain | external link | Gai, 2011 |
| AutCNV0003592 | 7 | 7p22.2 | 2290685 | 2705266 | 414581 | gain | external link | Gai, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 7 | 2629665 | A | G | c.1121A>G | p.His374Arg | Sanger sequencing | neutral | 0.0341 | Neale BM, 2012 |
| 7 | 2629665 | A | G | Sanger sequencing | neutral | 0.0341 | De Rubeis S, 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! | |||||||