Variant Details for KIAA2022
Basic Information Top
| Gene Symbol: | KIAA2022 ( - ) |
|---|---|
| Gene Full Name: | KIAA2022 |
| Band: | Xq13.3 |
| Quick Links | Entrez ID:340533; OMIM: 300524; Uniprot ID:K2022_HUMAN; ENSEMBL ID: ENSG00000050030; HGNC ID: |
| 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 | 4 | 0 | 0 | 0 | 3 | 0 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0005041 | X | Xq13.3 | 73899064 | 74262928 | 363864 | gain | external link | Charzewska A, 2015 |
| AutCNV0005122 | 15 | 15q23q24.1 | loss | Siu WK, 2016 | ||||
| AutCNV0005774 | X | gain | C Yuen RK, 2017 | |||||
| AutCNV0005773 | X | gain | C Yuen RK, 2017 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
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 |
|---|---|---|---|---|---|---|---|---|---|
| X | c.186delC | Y | Van Maldergem L, 2013 | ||||||
| X | 73877519-73877520 | c.3597dupA | Y | Van Maldergem L, 2013 | |||||
| X | c.964C>T | p.R322X | Y | Farach LS, 2016 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||