sgm_schema

Schema for MariaDB database that has pathogenicity predictions for a gene

https://github.com/jvlehtonen/sgm_schema

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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
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Created over 1 year ago · Last pushed 7 months ago
Metadata Files
Readme License Citation

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

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

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