Variant Details for ANKRD17
Basic Information Top
| Gene Symbol: | ANKRD17 ( FLJ22206,GTAR,KIAA0697,NY-BR-16 ) |
|---|---|
| Gene Full Name: | ankyrin repeat domain 17 |
| Band: | 4q13.3 |
| Quick Links | Entrez ID:26057; OMIM: NA; Uniprot ID:ANR17_HUMAN; ENSEMBL ID: ENSG00000132466; HGNC ID: 23575 |
| 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 | 2 | 2 | 0 | 0 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0001220 | 4 | 4q13.3 | 73819690 | 74065747 | 246057 | gain | external link | Pinto, 2010 |
| AutCNV0003193 | 4 | 4q13.3 | 73752242 | 74039463 | 287221 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 4 | 73957308 | CTGT | C | Sanger sequencing | De Rubeis S, 2014 | ||||
| 4 | 74026943 | C | T | Sanger sequencing | neutral | 0.0863 | 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! | |||||||