annotation of gene function …and how thats useful to you

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Annotation of Gene Function …and how that’s useful to you

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Page 1: Annotation of Gene Function …and how thats useful to you

Annotation of Gene Function

…and how that’s useful to you

Page 2: Annotation of Gene Function …and how thats useful to you

What is TAIR*? NSF-funded project begun in 1999 Web resource for Arabidopsis data and stocks Literature-based manual annotation of gene function Genome annotation (gene structure, computational gene

function)

*

URL

Page 3: Annotation of Gene Function …and how thats useful to you

Overview

Functional annotation

Controlled vocabularies

Functional annotation at TAIR

Resources and tools at TAIR

Page 4: Annotation of Gene Function …and how thats useful to you

Overview

Functional annotation

Controlled vocabularies

Functional annotation at TAIR

Resources and tools at TAIR

Page 5: Annotation of Gene Function …and how thats useful to you

What is an annotation?

An annotation is a statement that a gene product ……has a particular molecular function …is involved in a particular biological process…is located within a certain cellular component

…based on a particular method …and described in a particular reference.

Adapted from Harold J Drabkin, The Jackson Laboratory

Smith et al. (2006) determined by a direct assay that Abc2 has protein kinase activity, is involved in the process of protein phosphorylation, and is located in the cytoplasm.

Smith et al. (2006) determined by a direct assay that Abc2 has protein kinase activity, is involved in the process of protein phosphorylation, and is located in the cytoplasm.

ReferenceReference

MethodMethod

Controlled vocabulariesControlled

vocabularies

Gene productGene

product

Page 6: Annotation of Gene Function …and how thats useful to you

Overview

Functional annotation

Controlled vocabularies

Functional annotation at TAIR

Resources and tools at TAIR

Page 7: Annotation of Gene Function …and how thats useful to you

Controlled vocabularies (CV)

Non-controlled vocabularies Different names, same concept Same name, different concepts

A standardized restricted set of defined terms designed to reduce ambiguity in describing a concept

Page 8: Annotation of Gene Function …and how thats useful to you

Different names, same concept

The formation of glucose from noncarbohydrate precursors, such as pyruvate, amino acids and glycerol

glucose biosynthesisglucose synthesisglucose formationglucose anabolismgluconeogenesis

Page 9: Annotation of Gene Function …and how thats useful to you

Same name, different concepts

Page 10: Annotation of Gene Function …and how thats useful to you

Controlled vocabularies (CV)

Non-controlled vocabularies Different names, same concept Same name, different concepts

A standardized restricted set of defined terms designed to reduce ambiguity in describing a concept

Controlled vocabularies Clearly defined Extensive use of synonyms Can be used to perform complex cross-species

cross-database queries.

Page 11: Annotation of Gene Function …and how thats useful to you

Controlled vocabularies used at TAIR The Gene Ontology (GO) vocabularies by the

Gene Ontology Consortium

The Plant Ontology (PO) vocabularies by the Plant Ontology Consortium

Page 12: Annotation of Gene Function …and how thats useful to you

Gene Ontology

molecular function: catalytic / binding activitieskinase activity, DNA binding activity

biological process: biological goal or objectivesignal transductionmitosis, purine metabolism

cellular component: location or complexnucleus ribosome, proteasome

Page 13: Annotation of Gene Function …and how thats useful to you

is-a

protein complex

organelle

mitochondrion

fatty acid beta-oxidation multienzyme complex

part-of

is-a

Relationships: is_a and part_of

Page 14: Annotation of Gene Function …and how thats useful to you

Plant Ontology

Plant structure

stamen, petal, guard cell

Growth and developmental stages

seedling growth, rosette growth, leaf development stages, embryo development stages.

Page 15: Annotation of Gene Function …and how thats useful to you

Overview

Functional annotation

Controlled vocabularies

Functional annotation at TAIR

Resources and tools at TAIR

Page 16: Annotation of Gene Function …and how thats useful to you

How are annotations made?

Sources

- Primary literature- Computational analyses of the genome sequence- Contributions from the research community

Page 17: Annotation of Gene Function …and how thats useful to you

How are annotations made?

What result? Fig. 1: At5g27620 has protein kinase activity

What term? [Molecular Function] Protein kinase activity

Evidence? Kinase assay

Publication The Plant Journal (2006) 47:701

Which gene? At5g27620

Annotation

Page 18: Annotation of Gene Function …and how thats useful to you

How are annotations made?

Page 19: Annotation of Gene Function …and how thats useful to you

Experimental evidence codesExperimental evidence codes

-- IInferred from MMutant PPhenotype (mutant analysis)

-- IInferred from DDirect AAssay ( (enzyme assayenzyme assay))

- I- Inferred from GGenetic IInteraction (double mutant analysis)

-- IInferred from PPhysical IInteraction (yeast 2-H)

-- IInferred from EExpression PPattern ( (Northern blotNorthern blot))

Computational analysisComputational analysis

Author statement

Curatorial statement

Evidence codes

Page 20: Annotation of Gene Function …and how thats useful to you

Summary of functional annotation of the Arabidopsis genome

Based on annotation data as of May 3, 2007. More information can be found on TAIR: Portals: Genome Annotation: Genome Snapshot.

Molecular Function Biological Process Cellular Component

Page 21: Annotation of Gene Function …and how thats useful to you

Overview

Functional annotation

Controlled vocabularies

Functional annotation at TAIR

Resources and tools at TAIR

Page 22: Annotation of Gene Function …and how thats useful to you

GO at TAIR

Gene search Keyword search GO annotation search Bulk download Community annotations

Page 23: Annotation of Gene Function …and how thats useful to you

Gene Search

Finding genes based on controlled vocabulary annotations

Page 24: Annotation of Gene Function …and how thats useful to you

Gene search Search by AGI identifier

Page 25: Annotation of Gene Function …and how thats useful to you

Gene search results page

Page 26: Annotation of Gene Function …and how thats useful to you

Search by gene name Gene search Search by gene name

Plant U-box17

Page 27: Annotation of Gene Function …and how thats useful to you

Gene search results page

Page 28: Annotation of Gene Function …and how thats useful to you

Locus detail page

Page 29: Annotation of Gene Function …and how thats useful to you

Annotation detail page

Page 30: Annotation of Gene Function …and how thats useful to you

Keyword Search

Finding all types of data associated with a given keyword

Page 31: Annotation of Gene Function …and how thats useful to you

Select keyword search

Page 32: Annotation of Gene Function …and how thats useful to you

Keyword search page

Page 33: Annotation of Gene Function …and how thats useful to you

Keyword search result page

Page 34: Annotation of Gene Function …and how thats useful to you

Keyword search page

Page 35: Annotation of Gene Function …and how thats useful to you

GO Annotation Search

Finding GO annotations for sets of genes and grouping them by

function, location and biological roles

Page 36: Annotation of Gene Function …and how thats useful to you

Select GO annotations

Page 37: Annotation of Gene Function …and how thats useful to you

GO annotation search page

Page 38: Annotation of Gene Function …and how thats useful to you

Functional categorization

Page 39: Annotation of Gene Function …and how thats useful to you

Pie chart for functional annotations

Page 40: Annotation of Gene Function …and how thats useful to you

GO annotation search page

Page 41: Annotation of Gene Function …and how thats useful to you

Accessing Whole Genome Files

When you want it all

Page 42: Annotation of Gene Function …and how thats useful to you

Bulk download

Page 43: Annotation of Gene Function …and how thats useful to you

GO annotation user submission

Page 44: Annotation of Gene Function …and how thats useful to you

[email protected]

GO annotation user submission

Page 45: Annotation of Gene Function …and how thats useful to you

External links

GO http://www.geneontology.org/

AmiGO http://www.godatabase.org/

PO http://www.plantontology.org/

Questions [email protected]