Variant Details for GTF2IRD1
Basic Information Top
| Gene Symbol: | GTF2IRD1 ( BEN,CREAM1,GTF3,MUSTRD1,RBAP2,WBS,WBSCR11,WBSCR12,hMusTRD1alpha1 ) |
|---|---|
| Gene Full Name: | GTF2I repeat domain containing 1 |
| Band: | 7q11.23 |
| Quick Links | Entrez ID:9569; OMIM: 604318; Uniprot ID:GT2D1_HUMAN; ENSEMBL ID: ENSG00000006704; HGNC ID: 4661 |
| 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 | 9 | 1 | 0 | 0 | 0 | 0 | 10 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000132 | 7 | 7q11 | 72185990 | 76985990 | 4800000 | loss | external link | Jacquemont, 2006 |
| AutCNV0000257 | 7 | 7q11.23 | 73277476 | 74378974 | 1101498 | gain | external link | Depienne, 2007 |
| AutCNV0003814 | 7 | 7q11.23 | 72719808 | 74143620 | 1423812 | gain | external link | Levy, 2011 |
| AutCNV0004264 | 7 | 7q11.23 | 72773570 | 74173250 | 1399680 | gain | external link | Sanders, 2011 |
| AutCNV0004263 | 7 | 7q11.23 | 72717647 | 74144177 | 1426530 | gain | external link | Sanders, 2011 |
| AutCNV0004262 | 7 | 7q11.23 | 72706490 | 74144177 | 1437687 | gain | external link | Sanders, 2011 |
| AutCNV0004261 | 7 | 7q11.23 | 72662415 | 74144177 | 1481762 | gain | external link | Sanders, 2011 |
| AutCNV0003815 | 7 | 7q11.23 | 72739232 | 74142229 | 1402997 | gain | external link | Levy, 2011 |
| AutCNV0004978 | 7 | 7q11.23 | 74455447 | 74488775 | 33328 | external link | Sanders SJ, 2015 |
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 | 73969529 | A | G | c.1942A>G | p.Lys648Glu | Sanger sequencing | deleterious | 0.4939 | Sanders SJ, 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! | |||||||