Difference between revisions of "Researching SNPs (PKU)"
From Bioinformatikpedia
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== Databases== |
== Databases== |
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| + | ===Overview=== |
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| + | <figtable id="tab:modelling_scores"> |
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| + | <caption>Key Values of the different SNP databases</caption> |
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| + | {| style="border-collapse: separate; border-spacing: 0; border-width: 1px; border-style: solid; padding-left:5px; padding-right:5px; border-color: #000; padding: 0" |
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| + | ! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| Database |
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| + | ! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| Last Update |
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| + | ! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| Number of Entries |
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| + | ! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| Number of Entries concerning PAH |
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| + | ! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| Type of information |
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| + | ! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| Sources |
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| + | ! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 1px 0;"| Curation/Verification |
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| + | ! style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0px 1px 0;"| Comment |
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| + | |- |
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| + | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0; font-style:italic;"| HGMD |
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| + | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| public after 3 years (quarterly updated) |
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| + | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 50129 (only mis-/nonsense) |
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| + | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| 397 (only mis-/nonsense) |
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| + | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| all types of mutations |
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| + | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| current literature |
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| + | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 1px 0 0;"| manual and computerised search in current literature |
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| + | | style="border-style: solid; padding-left:5px; padding-right:5px; border-width: 0 0px 0 0;"| too much advertising |
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| + | |- |
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| + | |} |
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| + | </figtable> |
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===HGMD=== |
===HGMD=== |
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Revision as of 17:17, 5 June 2012
Contents
Short Task Description
In this weeks task, we will research SNPs in the PAH gene that cause or do not cause a different phenotype of the phenylalanine hydroxylase. The chosen databases are: The public release of the Human Gene Mutation Database (HGMD), dbSNP, SNPdbe, OMIM and SNPedia. You may find a detailed task description here.
Databases
Overview
<figtable id="tab:modelling_scores"> Key Values of the different SNP databases
| Database | Last Update | Number of Entries | Number of Entries concerning PAH | Type of information | Sources | Curation/Verification | Comment |
|---|---|---|---|---|---|---|---|
| HGMD | public after 3 years (quarterly updated) | 50129 (only mis-/nonsense) | 397 (only mis-/nonsense) | all types of mutations | current literature | manual and computerised search in current literature | too much advertising |
</figtable>
HGMD
dpSNP
http://www.ncbi.nlm.nih.gov/gene/5053
OMIM
http://mim.org/entry/261600?search=PAH
SNPdbe
http://www.rostlab.org/services/snpdbe/dosearch.php?id=name&val=PAH&organism2=human&organism1=
