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Data Mining with BioMartData Mining with BioMart

www.ensembl.org/biomart/martviewwww.biomart.org/biomart/martview

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What is BioMart?What is BioMart?

• A data export tool

• A quick table generator

• A web interface to mine Ensembl data

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BioMart- Data miningBioMart- Data mining

• BioMart is a search engine that can find multiple terms and put them into a table format.

• Such as: mouse gene (IDs), chromosome and base pair position

• No programming required!

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General or Specific Data-TablesGeneral or Specific Data-Tables

• All the genes for one species

• Or… only genes on one specific region of a chromosome

• Or… make BioMart select genes

(I.e. all transcripts that match a microarry probe set, GO term, or InterPro domain).

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ResultsResults

Tables or sequencesTables or sequences

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The First Step: Choose the The First Step: Choose the DatasetDataset

Dataset: Current Ensembl, Human genes

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The Second Step: FiltersThe Second Step: Filters

Filters: Define a gene set

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Attributes attach informationAttributes attach information

Attributes: Determine output columns

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QueryQuery

For the human CFTR gene, export the Entrez Gene ID(s) and matching Affy HG U133-PLUS-2 probeset(s)

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Query:Query:

For the human CFTR gene, export the Entrez Gene ID(s) and matching Affy HG U133-PLUS-2 probeset(s)

• In the query:

Filters: what we know

Attributes: what we want to know.

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Query:Query:

For the human CFTR gene, export the Entrez Gene ID(s) and matching Affy HG U133-PLUS-2 probeset(s)

• In the query:

Filters: what we know

Attributes: what we want to know.

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Query:Query:

For the human CFTR gene, export the Entrez Gene ID(s) and matching Affy HG U133-PLUS-2 probeset(s)

• In the query:

Filters: what we know

Attributes: what we want to know

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A Brief ExampleA Brief Example

Use the current Ensembl (archives are also available)

SelectHomo sapiens

genes

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Select the Genes with FiltersSelect the Genes with Filters

Expand the GENE panel to enter in the gene ID(s).

Expand the ‘GENE’ panel.

ClickFilters

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Filters (and Count)Filters (and Count)

Click “Count” to see if genes passed through your filters.

Change this to HGNC curated name. Enter “CFTR” in the box.

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Attributes (Output Options)Attributes (Output Options)

Click on ‘Attributes’

‘Attributes’ allows you to output information.

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Attributes (Output Options)Attributes (Output Options)

Select ‘EntrezGene ID’

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Attributes (Output Options)Attributes (Output Options)

Select the Affy Platform ‘HG U133-PLUS-2’ in the

‘Microarray’ section

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The Results Table - PreviewThe Results Table - Preview

For the full result table: click “Go” or View “ALL” rows.

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Full Result TableFull Result Table

Ensembl Gene ID for CFTR

Ensembl Transcript

IDs

EntrezGene ID

Affy HG probeset

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Other Export Options (Attributes)Other Export Options (Attributes) Sequences: UTRs, flanking sequences, cDNA

and peptides, etc

Gene IDs from Ensembl and external sources (MGI, Entrez, etc)

Microarray data

Protein Functions/descriptions (Interpro, GO)

Orthologous gene sets

SNP/ Variation Data

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BioMart around the BioMart around the world…world…

BioMart started at Ensembl…

To where has it travelled?

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Central PortalCentral Portal

www.biomart.org

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WormBase WormBase

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HapMapHapMap

Population frequencies

Inter- population comparisons

Gene annotation

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DictyBaseDictyBase

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GRAMENEGRAMENE

www.gramene.org

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The Potato CenterThe Potato Center

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How to Get ThereHow to Get Therehttp://www.biomart.org/biomart/martview

http://www.ensembl.org/biomart/martview

• Or click on ‘BioMart’ from Ensembl

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Worked ExampleWorked Example

• Follow the worked example on pg 26

• Then, do the exercises on pg 34 (answers on pg 37)

This module should do the following:• Show you how to export multiple data types from

Ensembl for gene IDs or chromosomal regions.

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Ensembl Core DatabasesEnsembl Core Databases

Relational Database• Normalised• Each data point stored only onceTherefore:• Quick updates• Minimal storage requirementsBut:• Many tables• Many joins for complicated queries• Slow for data mining applications

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Normalised SchemaNormalised Schema

gene_id gene.symbol

9970 SMAD1

1712 SMAD2

8240 SMAD3

1967 SMAD4

… …

gene_id transcript

9970 ENST00000302085

1712 ENST00000262160

1712 ENST00000356825

8240 ENST00000327367

1967 ENST00000342988

… …

gene_id stable_id

9970 ENSG00000170365

1712 ENSG00000175387

8240 ENSG00000166949

1967 ENSG00000141646

… …

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BioMart DatabaseBioMart Database

Data warehouse• De-normalised• Query-optimisedTherefore:• Fast and flexible• Ideal for data miningBut:• Tables with apparent “redundancy”• Needs rebuilding from scratch for every release

from normalised core databases

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De-Normalised SchemaDe-Normalised Schema

gene_id transcript_id gene.symbol

ENSG00000170365 ENST00000302085 SMAD1

ENSG00000175387 ENST00000262160 SMAD2

ENSG00000175387 ENST00000356825 SMAD2

ENSG00000166949 ENST00000327367 SMAD3

ENSG00000141646 ENST00000342988 SMAD4

… … …

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SPECIES

FOCUS

REGION

SNP

PROTEIN

HOMOLOGY

GENE

EXPRESSION

REFSEQ

INTERPRO

GO

SWISSPROT

EMBL

AFFYMETRIX

FASTA

FILE

EXCEL

TEXT

GTF

HTML

DATASET FILTER ATTRIBUTES

Information FlowInformation Flow

REGION

SNP

PROTEIN

HOMOLOGY

GENE

EXPRESSION