Variant Details for ADCY5
Basic Information Top
| Gene Symbol: | ADCY5 ( AC5 ) |
|---|---|
| Gene Full Name: | adenylate cyclase 5 |
| Band: | 3q21.1 |
| Quick Links | Entrez ID:111; OMIM: 600293; Uniprot ID:ADCY5_HUMAN; ENSEMBL ID: ENSG00000173175; HGNC ID: 236 |
| 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 | 0 | 5 | 0 | 1 | 0 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| No related data! | ||||||||
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 |
|---|---|---|---|---|---|---|---|---|---|
| 3 | 123046605 | G | R | Sanger sequencing | O'Roak BJ, 2012 | ||||
| 3 | 123049782 | C | Y | p.Ala534Thr | Sanger sequencing | O'Roak BJ, 2012 | |||
| 3 | 123046605 | G | R | p.Arg603Cys | Sanger sequencing | O'Roak BJ, 2012 | |||
| 3 | 121567092 | C | p.Ala534Thr | O'Roak BJ, 2012 | |||||
| 3 | 121563915 | G | p.Arg603Cys | O'Roak BJ, 2012 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 3 | 121683740 | * | -T/* | p.Gln321ArgfsX56 | O'Roak BJ, 2012 |
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! | |||||||