Variant Details for ARPP21
Basic Information Top
| Gene Symbol: | ARPP21 ( ARPP-21,FLJ32997,R3HDM3,RCS,TARPP ) |
|---|---|
| Gene Full Name: | cAMP-regulated phosphoprotein, 21kDa |
| Band: | 3p22.3 |
| Quick Links | Entrez ID:10777; OMIM: 605488; Uniprot ID:ARP21_HUMAN; ENSEMBL ID: ENSG00000172995; HGNC ID: 16968 |
| 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 | 5 | 1 | 0 | 0 | 0 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0001399 | 3 | 3p22.3 | 35804611 | 35938795 | 134184 | gain | external link | Pinto, 2010 |
| AutCNV0001205 | 3 | 3p22.3 | 35804611 | 35938795 | 134184 | gain | external link | Pinto, 2010 |
| AutCNV0001019 | 3 | 3p22.3 | 35804611 | 35938795 | 134184 | gain | external link | Pinto, 2010 |
| AutCNV0001018 | 3 | 3p22.3 | 35804611 | 35938795 | 134184 | gain | external link | Pinto, 2010 |
| AutCNV0000851 | 3 | 3p22.3 | 35804611 | 35938795 | 134184 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 0 | Nilsson D, 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! | |||||||