Variant Details for PRKAA1
Basic Information Top
| Gene Symbol: | PRKAA1 ( AMPK,AMPKa1,MGC33776,MGC57364 ) |
|---|---|
| Gene Full Name: | protein kinase, AMP-activated, alpha 1 catalytic subunit |
| Band: | 5p13.1 |
| Quick Links | Entrez ID:5562; OMIM: 602739; Uniprot ID:AAPK1_HUMAN; ENSEMBL ID: ENSG00000132356; HGNC ID: 9376 |
| 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 | 1 | 0 | 0 | 0 | 4 | 5 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 5 | 40775591 | C | CTGA | PCR amplification and Sanger s | Dong 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000057 | 5p13.1 | 5 | D5S2494 | 2.55 | - | - | Liu, 2001 |
| AutLD0000013 | 5p13.1 | 5 | D5S2494 | 2.54 | - | - | Yonan, 2003 |
| AutLD0000087 | 5p13.1 | 5 | D5S2494 | - | 2.18 | - | Buxbaum, 2004 |
| AutLD0000106 | 5p13.1 | 5 | D5S1490 | - | 1.82 | - | Ylisaukko-oja, 2006 |