Variant Details for ARIH1
Basic Information Top
| Gene Symbol: | ARIH1 ( ARI,DKFZp686O13120,FLJ20329,FLJ93118,HARI,HHARI,UBCH7BP ) |
|---|---|
| Gene Full Name: | ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila) |
| Band: | 15q24.1 |
| Quick Links | Entrez ID:25820; OMIM: 605624; Uniprot ID:ARI1_HUMAN; ENSEMBL ID: ENSG00000166233; HGNC ID: 689 |
| 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 | 6 | 1 | 0 | 0 | 0 | 0 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000110 | 15 | 15q21.2-26.3 | 51558408 | 102352477 | 50794069 | gain | external link | Szatmari, 2007 |
| AutCNV0000028 | 15 | 15q21.2-26.3 | 51558408 | 102352477 | 50794069 | gain | external link | Szatmari, 2007 |
| AutCNV0000150 | 15 | 15q23-24.2 | 71814246 | 76103745 | 4289499 | loss | external link | Marshall, 2008 |
| AutCNV0004322 | 15 | 15q23-q24.2 | 71814246 | 76103745 | 4289499 | loss | external link | Sanders, 2011 |
| AutCNV0004321 | 15 | 15q23-q24.1 | 69100017 | 74157146 | 5057129 | loss | external link | Sanders, 2011 |
| AutCNV0003838 | 15 | 15q23-q24.1 | 69099547 | 74151983 | 5052436 | loss | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 0 | Redin C, 2017 |
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! | |||||||