Variant Details for KIAA1522
Basic Information Top
| Gene Symbol: | KIAA1522 ( - ) |
|---|---|
| Gene Full Name: | KIAA1522 |
| Band: | 1p35.1 |
| Quick Links | Entrez ID:57648; OMIM: NA; Uniprot ID:K1522_HUMAN; ENSEMBL ID: ENSG00000162522; HGNC ID: 29301 |
| 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 | 1 | 0 | 0 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0001542 | 1 | 1p35.1 | 32923780 | 33543052 | 619272 | gain | external link | Pinto, 2010 |
| AutCNV0004187 | 1 | 1p34.3-p35.2 | 31125281 | 36307897 | 5182616 | gain | external link | Sanders, 2011 |
| AutCNV0003796 | 1 | 1p35.2-p34.3 | 31125532 | 36307613 | 5182081 | gain | external link | Levy, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 33236926 | C | G | Sanger sequencing | neutral | 0.1193 | 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! | |||||||