Variant Details for INTS1
Basic Information Top
| Gene Symbol: | INTS1 ( DKFZp586J0619,FLJ46624,INT1,KIAA1440,NET28 ) |
|---|---|
| Gene Full Name: | integrator complex subunit 1 |
| Band: | 7p22.3 |
| Quick Links | Entrez ID:26173; OMIM: 611345; Uniprot ID:INT1_HUMAN; ENSEMBL ID: ENSG00000164880; HGNC ID: 24555 |
| 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 |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000502 | 7 | 7p22.2-22.3 | 10239 | 2436600 | 2426361 | loss | external link | Gregory, 2009 |
| AutCNV0002257 | 7 | 7p22.3 | 1458931 | 1604320 | 145389 | gain | external link | Pinto, 2010 |
| AutCNV0001443 | 7 | 7p22.3 | 1322576 | 1607259 | 284683 | gain | external link | Pinto, 2010 |
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 | 1542695 | G | A | Sanger sequencing | deleterious | 0.7223 | De Rubeis S, 2014 | ||
| 7 | 1542787 | CT | C | Sanger sequencing | 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! | |||||||