sgm_schema
Schema for MariaDB database that has pathogenicity predictions for a gene
Science Score: 44.0%
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○Scientific vocabulary similarity
Low similarity (4.4%) to scientific vocabulary
Repository
Schema for MariaDB database that has pathogenicity predictions for a gene
Basic Info
- Host: GitHub
- Owner: jvlehtonen
- License: other
- Default Branch: main
- Size: 52.7 KB
Statistics
- Stars: 0
- Watchers: 1
- Forks: 0
- Open Issues: 0
- Releases: 3
Metadata Files
README.md
SGM_schema
Schema for MariaDB database that has pathogenicity predictions for a gene
The 'cdna' could be considered the main table; one entry per unique c.dna change (aka HGVSc). Each c.dna change may have data in ClinVar and gnomAD databases. A 'variant' is observed change in protein sequence (HGVSp) that affects how the change affects protein.
The 'syngap' and 'syngap_structural' tables hold collected or computed predictions about variants. The name "syngap" is due to the schema being created originally to store data for SYNGAP1 gene (synaptic Ras GTPase activating protein 1).
+----------------------+
| Tables_in_syngap |
+----------------------+
| aminoacids |
| cdna |
| clinvar |
| clinvar_germline |
| clinvar_review |
| gnomAD |
| predictions |
| syngap |
| syngap_domain |
| syngap_sa |
| syngap_structural |
| syngap_verdict |
+----------------------+
The aminoacids, clinvargermline, clinvarreview, predictions, syngapdomain, and syngapverdict are (code->text) lookup tables.
+----------------------+
| Views_in_syngap |
+----------------------+
| HGVSp_to_variant |
| cdna_count |
| for_HGVSp_to_variant |
| for_csv |
| for_datatable |
+----------------------+
The forcsv and fordatatable are views that combine/collect data for single CSV table and for display on SGM website, respectively.
mermaid
erDiagram
clinvar ||--o| cdna : ""
gnomAD ||--o| cdna : ""
cdna }|--|| syngap : ""
cdna }|--o| syngap_structural : ""
cdna }|--o| syngap_sa : ""
clinvar{
int uid PK
}
gnomAD{
string id PK
}
cdna{
string cdna_change PK
int basenum
string variant
int resnum
int clinvar_uid
string gnomad_id
}
syngap{
string variant PK
}
syngap_structural{
string variant PK
}
syngap_sa{
string variant PK
}
Installation
- 'tables.sql' has the tables
- 'functions.sql' adds functions that create verbal predictions for scores
- 'views.sql' adds views/queries that combine columns for "single tables". Views depend on functions and tables
Create preferably two SQL users, one with write access and second with read-only. Use the first for content updates and the second on website that shows content to public.
Owner
- Name: Jukka V. Lehtonen
- Login: jvlehtonen
- Kind: user
- Location: Turku, Finland
- Repositories: 1
- Profile: https://github.com/jvlehtonen
Citation (CITATION.cff)
# This CITATION.cff file was generated with cffinit.
# Visit https://bit.ly/cffinit to generate yours today!
cff-version: 1.2.0
title: Schema for MariaDB database that has pathogenicity predictions for a gene
message: >-
If you use this software, please cite it using the
metadata from this file.
type: software
authors:
- given-names: Jukka V
family-names: Lehtonen
affiliation: Åbo Akademi University
orcid: 'https://orcid.org/0000-0003-0385-0636'
repository-code: 'https://github.com/jvlehtonen/SGM_schema'
license: ODbL-1.0
GitHub Events
Total
- Release event: 3
- Push event: 13
- Public event: 1
- Create event: 3
Last Year
- Release event: 3
- Push event: 13
- Public event: 1
- Create event: 3