applications of go. goals of gene ontology project

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Applications of GO

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Page 1: Applications of GO. Goals of Gene Ontology Project

Applications of GO

Page 2: Applications of GO. Goals of Gene Ontology Project

Goals of Gene Ontology Project

Page 3: Applications of GO. Goals of Gene Ontology Project

Goals of Gene Ontology Project

1. Create controlled vocabularies– terms and definitions

Page 4: Applications of GO. Goals of Gene Ontology Project

Goals of Gene Ontology Project

1. Create controlled vocabularies– terms and definitions

2. Produce annotations to terms– gene product -> GO terms

Page 5: Applications of GO. Goals of Gene Ontology Project

Goals of Gene Ontology Project

1. Create controlled vocabularies– terms and definitions

2. Produce annotations to terms– gene product -> GO terms

3. Produce GO tools– browsing, searching and editing

Page 6: Applications of GO. Goals of Gene Ontology Project

Goals of Gene Ontology Project

1. Create controlled vocabularies– terms and definitions

2. Produce annotations to terms– gene product -> GO terms

3. Produce GO tools– browsing, searching and editing

• Make everything publicly available

Page 7: Applications of GO. Goals of Gene Ontology Project

Annotations to GO

‘Gene associations’ Associations between a gene/gene

product and GO terms Association made to each of the

ontologies

gene product

cellular componentbiological processmolecular function

Page 8: Applications of GO. Goals of Gene Ontology Project

Annotations to GO

Three key parts:

– gene name/id

Page 9: Applications of GO. Goals of Gene Ontology Project

Annotations to GO

Three key parts:

– gene name/id

– GO term

Page 10: Applications of GO. Goals of Gene Ontology Project

Annotations to GO

Three key parts:

– gene name/id

– GO term(s)

– evidence for association

Page 11: Applications of GO. Goals of Gene Ontology Project

Gene association file

Importin alpha-3 subunit IPI00012092 protein taxon:9606 20020920 SPTRImportin alpha-3 subunit IPI00012092 protein taxon:9606 20011011 SPTRImportin alpha-3 subunit IPI00012092 protein taxon:9606 20020630 SPTR

SPTR O00505 IMA3_HUMAN GO:0006886 GOA:interpro IEA P

SPTR O00505 IMA3_HUMAN GO:0005634 GOA:spkw IEA C SPTR O00505 IMA3_HUMAN GO:0005643 PUBMED:9154134 TAS

C

intracellular

protein transport

nucleus

nuclear pore

Page 12: Applications of GO. Goals of Gene Ontology Project

Types of GO annotation:

Electronic Annotation

Manual Annotation

Page 13: Applications of GO. Goals of Gene Ontology Project

Evidence types ISS: Inferred from Sequence/structural Similarity IDA: Inferred from Direct Assay IPI: Inferred from Physical Interaction IMP: Inferred from Mutant Phenotype IGI: Inferred from Genetic Interaction IEP: Inferred from Expression Pattern TAS: Traceable Author Statement NAS: Non-traceable Author Statement IC: Inferred by Curator ND: No Data available

IEA: Inferred from electronic annotation

Page 14: Applications of GO. Goals of Gene Ontology Project

Evidence types ISS: Inferred from Sequence/structural Similarity IDA: Inferred from Direct Assay IPI: Inferred from Physical Interaction IMP: Inferred from Mutant Phenotype IGI: Inferred from Genetic Interaction IEP: Inferred from Expression Pattern TAS: Traceable Author Statement NAS: Non-traceable Author Statement IC: Inferred by Curator ND: No Data available

IEA: Inferred from electronic annotation

Page 15: Applications of GO. Goals of Gene Ontology Project

Evidence types ISS: Inferred from Sequence/structural Similarity IDA: Inferred from Direct Assay IPI: Inferred from Physical Interaction IMP: Inferred from Mutant Phenotype IGI: Inferred from Genetic Interaction IEP: Inferred from Expression Pattern TAS: Traceable Author Statement NAS: Non-traceable Author Statement IC: Inferred by Curator ND: No Data available

IEA: Inferred from electronic annotation

Page 16: Applications of GO. Goals of Gene Ontology Project

Evidence types ISS: Inferred from Sequence/structural Similarity IDA: Inferred from Direct Assay IPI: Inferred from Physical Interaction IMP: Inferred from Mutant Phenotype IGI: Inferred from Genetic Interaction IEP: Inferred from Expression Pattern TAS: Traceable Author Statement NAS: Non-traceable Author Statement IC: Inferred by Curator ND: No Data available

IEA: Inferred from electronic annotation

Page 17: Applications of GO. Goals of Gene Ontology Project

Evidence types ISS: Inferred from Sequence/structural Similarity IDA: Inferred from Direct Assay IPI: Inferred from Physical Interaction IMP: Inferred from Mutant Phenotype IGI: Inferred from Genetic Interaction IEP: Inferred from Expression Pattern TAS: Traceable Author Statement NAS: Non-traceable Author Statement IC: Inferred by Curator ND: No Data available

IEA: Inferred from electronic annotation

Page 18: Applications of GO. Goals of Gene Ontology Project

Evidence types ISS: Inferred from Sequence/structural Similarity IDA: Inferred from Direct Assay IPI: Inferred from Physical Interaction IMP: Inferred from Mutant Phenotype IGI: Inferred from Genetic Interaction IEP: Inferred from Expression Pattern TAS: Traceable Author Statement NAS: Non-traceable Author Statement IC: Inferred by Curator ND: No Data available

IEA: Inferred from electronic annotation

Page 19: Applications of GO. Goals of Gene Ontology Project

Inferred by Electronic Annotation

Annotation derived without human validation– mappings file e.g. interpro2go, ec2go.– Blast search ‘hits’

Lower ‘quality’ than experimental codes

Page 20: Applications of GO. Goals of Gene Ontology Project

Mappings files

Fatty acid biosynthesis ( Swiss-Prot Keyword)

EC:6.4.1.2 (EC number)

IPR000438: Acetyl-CoA carboxylase carboxyl transferase beta subunit (InterPro entry)

GO:Fatty acid biosynthesis

(GO:0006633)

GO:acetyl-CoA carboxylase activity

(GO:0003989)

GO:acetyl-CoA carboxylaseactivity

(GO:0003989)

Page 21: Applications of GO. Goals of Gene Ontology Project

Gene association file

Importin alpha-3 subunit IPI00012092 protein taxon:9606 20020920 SPTRImportin alpha-3 subunit IPI00012092 protein taxon:9606 20011011 SPTRImportin alpha-3 subunit IPI00012092 protein taxon:9606 20020630 SPTR

SPTR O00505 IMA3_HUMAN GO:0006886 GOA:interpro IEA P

SPTR O00505 IMA3_HUMAN GO:0005634 GOA:spkw IEA C SPTR O00505 IMA3_HUMAN GO:0005643 PUBMED:9154134 TAS

C

using an InterPro to GO mappings file

using a Swiss-Prot keyword to GO mappings file

Page 22: Applications of GO. Goals of Gene Ontology Project

Submitting gene associations

Many model organism databases– Drosophila, mouse, Saccharomyces, rat,

zebrafish, prokaryotes, Arabidopsis, slime mould, C. elegans, rice, parasites, viruses

Swiss-Prot (UniProt)– Associations for >8000 species including

human

Page 23: Applications of GO. Goals of Gene Ontology Project

Databases

UniProtGOA-Human

GO

fly

yeast

worm

man

mouse rat

plants

parasite

bacteria

fishUniProtGOA-SPTRAll Species

Page 24: Applications of GO. Goals of Gene Ontology Project

Finding GO terms

In this study, we report the isolation and molecular characterization of the B. napus PERK1 cDNA, that is predicted to encode a novel receptor-like kinase. We have shown that like other plant RLKs, the kinase domain of PERK1 has serine/threonine kinase activity, In addition, the location of a PERK1-GTP fusion protein to the plasma membrane supports the prediction that PERK1 is an integral membrane protein…these kinases have been implicated in early stages of wound response…

Page 25: Applications of GO. Goals of Gene Ontology Project

GO slims

Restricted view of the ontologies

Give broad view of gene function

Can be organism-specific or generic– plant– mammal– microbe

Page 26: Applications of GO. Goals of Gene Ontology Project

GO slims

Page 27: Applications of GO. Goals of Gene Ontology Project

GO for microarray analysis

Annotations give ‘function’ label to genes

Ask meaningful questions of microarray data e.g.– genes involved in the same process,

same/different expression patterns?

Page 28: Applications of GO. Goals of Gene Ontology Project

GO for microarray analysis

experimental condition

Gen

e

com

pone

nt

proc

ess

func

tion

Page 29: Applications of GO. Goals of Gene Ontology Project

The tutorial

Part I– Navigating GO and its annotations using

Part II– Analysing microarray data using GO with