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Standards in Alternative Splicing AS-SIG 2006, Fortaleza, Brazil Oliver Hofmann South African National Bioinformatics Institute
Data integration Expression source Splicing  event Transcription regulation
 
 
 
Expression source Splicing  event Transcription regulation
eVOC system hierarchical, controlled vocabulary Anatomical system   Cell type   Developmental stage   Pathology
eVOC system hierarchical, controlled vocabulary Anatomical system   Cell type   Developmental stage   Pathology
 
 
eVOC mappings H-Inv Clusters UniGene GenBank cDNA libraries eVOC Gene ESTs RefSeq cDNA H-Inv cDNA
Fantom3 TU: 79236 GenBank Accessions Mouse RefSeq NM_054054 Human RefSeq (BRDT) MGI data Library annotation Human eVOC Homolog
Fantom3 TU: 79236 GenBank Accessions Mouse RefSeq NM_054054 Human RefSeq (BRDT) MGI data Library annotation Human eVOC Homolog
Expression source Splicing  event Transcription regulation
 
 
 
 
Differential TSS
Expression source Splicing  event Transcription regulation
Requirements Vocabulary Definitions (Data Model) Encoding
Vocabulary Donor site 5'-splice site
Vocabulary Donor site Cassette exon 5'-splice site Skipped exon
Vocabulary Donor site Cassette exon Retained intron 5'-splice site Skipped exon Cryptic exon
Definitions „ Cassette exons are exons that are seen in some transcripts, and not in others.“
 
 
Cassette exon Cryptic exon Skipped exon Normal form?
Genome T1 T2 T3
Sequence Ontology
Object description SO:Intron SO:5' splice site SO:Exon SO:3' splice site SO:Exon SO:Exon SO:Intron
Basic events
Pairwise description Exon 0 Exon 1 Exon 2 Exon 0 Exon 2 Exon 0 Exon 1 Exon 2 matches matches matches matches matches matches matches matches matches
Pairwise description Exon 0 Exon 2 Exon 0 Exon 1 Exon 2 cassette exon
Representation Exon 0 Exon 2 Exon 4 Exon 5 Exon 0 Exon 2 Exon 4 Exon 5 Exon 0 Exon 2 Exon 4 Exon 0 Exon 3 Exon 4 Exon 5 Exon 1
Exon 0 Exon 2 Exon 4 Exon 5 Exon 0 Exon 2 Exon 4 Exon 5 Exon 0 Exon 2 Exon 4 Exon 0 Exon 3 Exon 4 Exon 5 Exon 1 H 0 D 0 A 2 D 2 A 4 D 4 A 5 T 0 H 0 D 0 A 2 D 2 A 4 D 4 A 5 T 0 H 0 D 0 A 2 D 2 A 4 T 1 H 0 D 0 A 2 D 3 A 4 D 4 A 5 T 0 A 1 D 1
H 0 D 0 A 2 D 2 A 4 D 4 A 5 T 0 H 0 D 0 A 2 D 2 A 4 D 4 A 5 T 0 H 0 D 0 A 2 D 2 A 4 T 1 H 0 D 0 A 2 D 3 A 4 D 4 A 5 T 0 A 1 D 1
H 0 D 0 A 2 D 2 A 4 D 4 A 5 T 0 T 1 D 3 A 1 D 1
Edge information H 0 D 0 A 2 D 2 A 4 D 4 A 5 T 0 T 1 D 3 A 1 D 1
D 0 A 2 D 2 A 4 D 4 A 5 T 0 T 1 D 3 A 1 D 1
Colon cancer (6 ESTs) Normal Colon (20 ESTs) Heart (11 ESTs) H 0 D 0 A 2 D 2 A 4 D 4 A 5 T 0 T 1 D 3 A 1 D 1
Definitions revisited „ Cassette exons are exons that are seen in some transcripts, and not in others.“
Definitions revisited (I <is an> SO:INTRON and (E <is an> SO:EXON) and (E <is contained in> I) A D A D
Searching for subgraphs Modified acceptor site A A D D
 
Rules and graphs Can be concatenated to more complex rules Definitions can be translated as required
Encoding tromer SpliceNest ECGene Alternative Splicing Gallery Alternate Transcript Diversity
SO & CHAOS-XML „ Chaos-XML is for representing sequences and sequence features in a graph-like structure, typed according to SO.“ http://www.fruitfly.org/chaos-xml/
 
Expression source Splicing  event Transcription regulation
 
Thank you! Christian Iseli Chris Mungall Michael Sammeth Eduardo Eyras
http://www.sanbi.ac.za/ Standards in Alternative Splicing Encoding Alternative Splicing Information

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Standards in Alternative Splicing