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Peifen Zhang
Phoenix Bioinformatics
4/2/2020
PhyloGenes Webinar
Outline
• What is phylogenetic function inference
• A case study of phylogenetic function inference using PhyloGenes
• Search and explore info in PhyloGenes
A DNA/protein sequence
Function?
Functional annotation
A DNA/protein sequence
Predicted function
Relying solely on
sequence similarity
(e.g. BLAST, InterProScan)
Relying on
evolutionary history
Functional annotation
Phylogenetic function inference
Evolutionary history of a family of homologs:
human_gene_2
mouse_gene_2
human_gene_3
mouse_gene_3
mouse_gene_3’
human_gene_1
mouse_gene_1
speciation
duplication
ortholog: related by speciation
paralog: related by duplication
paralog: related by duplication
The ortholog conjecture:
Protein function changes rapidly after duplication,
leading to paralogs with different functions, while
orthologs retain the ancestral function.
Phylogenetic function inference
Evolutionary history of a family of homologs:
human_gene_2
mouse_gene_2
human_gene_3
mouse_gene_3
human_gene_1
mouse_gene_1
speciation
duplication motion
pigment
???
Phylogenetic function inference
Assigning function from a known gene to
an unknown gene using evolutionary
history of the genes
• orthologs
• known function for at least one of
the orthologs
phylogenes.org
• Displays phylogenetic trees of gene families across species
• Displays experimentally validated gene function (known function)
and other gene info alongside gene trees
• Facilitates inference of unknown gene function
Gene tree
(PANTHER February 2020 release)
Gene info
Family
info
A gene family page
• Classification of genes (protein sequence) to gene families
using the PANTHER pipeline (GIGA algorithm)
• 142 genomes across all kingdoms (February 2020 release)
50 genomes (plant-centric)
http://pantherdb.org/
Basic features on a PhyloGenes gene tree
Node
types
Gene name and species name
Taxonomic range of a collapsed
internal node
Subfamily:
‘Known function’
‘GO molecular
function’
supported by
Experimental evidence
(EBI GOA)
A distinct function
found in at least one
member of the
family
Outline
• What is phylogenetic functional inference
• A case study of phylogenetic functional inference using PhyloGenes
Demo
•Survey: bit.ly/2JyOFEe
•Slides: bit.ly/39CzZOW

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PhyloGenes Webinar Spring 2020