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Doug Brutlag 2011 Genome Databases Doug Brutlag Professor Emeritus of Biochemistry & Medicine Stanford University School of Medicine Genomics, Bioinformatics & Medicine http://biochem158.stanford.edu/
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Doug Brutlag 2011 Components of a Typical Human GeneGene IntronIntronExonExonExonPromoterTerminator TFBS
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Doug Brutlag 2011 Active Genes are Transcribed into RNA PrimaryTranscript Gene IntronIntronExon Exon Exon PromoterTerminator
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Doug Brutlag 2011Transcript mRNA Gene IntronIntronExon Exon Exon PromoterTerminator 5’5’5’5’ 3’3’3’3’ Splicing Splicing Transcript Yields Mature mRNA
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Doug Brutlag 2011 Mature mRNA contains Coding Region and 5’ and 3’ Untranslated Regions Transcript mRNA Gene IntronIntronExon Exon Exon PromoterTerminator 5’5’5’5’ 3’3’3’3’ Splicing Coding Region 5’UTR 3’UTR 5’UTR 3’UTR
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Doug Brutlag 2011 Mature mRNA contains 7-Methyl-Guanosine 5’ Cap and 3’ Poly A Tail Transcript mRNA Gene IntronIntronExon Exon Exon PromoterTerminator Splicing Coding Region 5’UTR 3’UTR 5’UTR 3’UTR 7-Me-G-Cap 3’ Poly A Tail
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Doug Brutlag 2011 ESTs, Full Length cDNA UniGene & RefSeq Databases UniGeneRefSeq Transcript mRNA Gene Intron Exon PromoterTerminator 5’5’ 3’3’ 3’ ESTs 5’ ESTs Full Length cDNA Splicing
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Doug Brutlag 2011 ESTs, Full Length cDNA UniGene & RefSeq Databases UniGeneRefSeq Transcript mRNA Gene Intron Exon PromoterTerminator 5’5’ 3’3’ 3’ ESTs 5’ ESTs Full Length cDNA Splicing Proteins 5’ UTR 3’ UTR Protein
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Doug Brutlag 2011 GENSCAN Gene Model http://genes.mit.edu/GENSCAN.html http://genes.mit.edu/GENSCAN.html Hidden Markov models of gene structure
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Doug Brutlag 2011 Promoters E Additional Data Genomic DNA Assembled contigs A Mapping uniSTS dbSNP Mouse ESTs Human ESTs C Expression Data Entrez Gene Mouse RefSeq Mouse UniGene Human RefSeq Human Ensembl cDNA Genome Databases nrPRO D Protein Similarity pFAM Motifs GrailEXP B Gene Prediction GenScanFGENESH FGENESH+ GeneMark F Summary Entrez Gene UCSC Browser Ensembl
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Doug Brutlag 2011Inclusive Exon Prediction Entrez Gene Loci http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gene NR-Pro Genscan GrailEXP FGENESH Entrez Gene UniGene ESTs
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Doug Brutlag 2011 Alternative Splicing Generates Distinct Proteins in Different Tissues Transcript mRNA-1 Gene Intron Exon PromoterTerminator 5’5’ 3’3’ Transcript mRNA-2 5’5’3’3’ Alternate Splicing Splicing
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Doug Brutlag 2011 Alternative Splicing Detected in EST Libraries
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Doug Brutlag 2011 NCBI Genomes http://www.ncbi.nlm.nih.gov/sites/entrez?db=genome http://www.ncbi.nlm.nih.gov/sites/entrez?db=genome
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Doug Brutlag 2011 Eukaryote Genome Projects http://www.ncbi.nlm.nih.gov/genomes/leuks.cgi http://www.ncbi.nlm.nih.gov/genomes/leuks.cgi
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Doug Brutlag 2011 Canis lupus familiaris Genome http://www.ncbi.nlm.nih.gov/sites/entrez?db=bioproject&cmd=Retrieve&dopt=Overv iew&list_uids=10726 http://www.ncbi.nlm.nih.gov/sites/entrez?db=bioproject&cmd=Retrieve&dopt=Overv iew&list_uids=10726
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Doug Brutlag 2011 NCBI Entrez Gene http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene
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Doug Brutlag 2011 NCBI Entrez Gene: Human Opsin http://www.ncbi.nlm.nih.gov/gene?term=human%20opsin http://www.ncbi.nlm.nih.gov/gene?term=human%20opsin
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Doug Brutlag 2011 Entrez Gene: Human Opsin OPN1MW http://www.ncbi.nlm.nih.gov/gene/2652 http://www.ncbi.nlm.nih.gov/gene/2652
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Doug Brutlag 2011 Entrez Gene: Human Opsin OPN1MW http://www.ncbi.nlm.nih.gov/gene/2652 http://www.ncbi.nlm.nih.gov/gene/2652
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Doug Brutlag 2011 MapViewer: Human Opsin OPN1MW http://www.ncbi.nlm.nih.gov/gene/2652 http://www.ncbi.nlm.nih.gov/gene/2652
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Doug Brutlag 2011 Evidence Viewer for OPN1MW http://www.ncbi.nlm.nih.gov/sutils/evv.cgi?taxid=9606&contig=NT_167198.1&gene=OPN1MW& lid=2652&from=4366022&to=4380289 http://www.ncbi.nlm.nih.gov/sutils/evv.cgi?taxid=9606&contig=NT_167198.1&gene=OPN1MW& lid=2652&from=4366022&to=4380289
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Doug Brutlag 2011 OMIM Home Page http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM
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Doug Brutlag 2011 Colorblindness in OMIM
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Doug Brutlag 2011 Colorblindness in OMIM http://omim.org/entry/303800 http://omim.org/entry/303800
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Doug Brutlag 2011 Colorblindness in OMIM http://omim.org/entry/303800 http://omim.org/entry/303800
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Doug Brutlag 2011 Human Genome Resources http://www.ncbi.nlm.nih.gov/genome/guide/human/ http://www.ncbi.nlm.nih.gov/genome/guide/human/
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Doug Brutlag 2011 RefSeq http://www.ncbi.nlm.nih.gov/RefSeq/ http://www.ncbi.nlm.nih.gov/RefSeq/
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Doug Brutlag 2011 RefSeq Gene http://www.ncbi.nlm.nih.gov/refseq/rsg/ http://www.ncbi.nlm.nih.gov/refseq/rsg/
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Doug Brutlag 2011 NCBI UniGene http://www.ncbi.nlm.nih.gov/sites/entrez?db=unigene http://www.ncbi.nlm.nih.gov/sites/entrez?db=unigene
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Doug Brutlag 2011 NCBI Homologene Database http://www.ncbi.nlm.nih.gov/homologene http://www.ncbi.nlm.nih.gov/homologene
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Doug Brutlag 2011 Comparative Genomics
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Doug Brutlag 2011 Ensembl Home Page http://www.ensembl.org/ http://www.ensembl.org/
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Doug Brutlag 2011 EBI Genomes Home Page http://www.ensembl.org/ http://www.ensembl.org/
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Doug Brutlag 2011 Ensembl Human Genome http://www.ensembl.org/Homo_sapiens/ http://www.ensembl.org/Homo_sapiens/
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Doug Brutlag 2011 Ensembl Human Opsin Search http://uswest.ensembl.org/Homo_sapiens/Search/Results?species=Homo_sapiens;id x=;q=opsin http://uswest.ensembl.org/Homo_sapiens/Search/Results?species=Homo_sapiens;id x=;q=opsin
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Doug Brutlag 2011 Ensembl Human Opsin Genes http://uswest.ensembl.org/Homo_sapiens/Search/Results?species=Homo_sapiens;id x=;q=opsin http://uswest.ensembl.org/Homo_sapiens/Search/Results?species=Homo_sapiens;id x=;q=opsin
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Doug Brutlag 2011 Ensembl Human OPN1MW Gene http://uswest.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000 147380;r=X:153448107-153461633 http://uswest.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000 147380;r=X:153448107-153461633
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Doug Brutlag 2011 Ensembl Opsin OPN1MW Gene Location http://uswest.ensembl.org/Homo_sapiens/Location/View?h=Havana%20gene;r=X:1 53448107-153461633#r=X:153448109-153461632 http://uswest.ensembl.org/Homo_sapiens/Location/View?h=Havana%20gene;r=X:1 53448107-153461633#r=X:153448109-153461632
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Doug Brutlag 2011 Ensembl OPN1MW Transcripts http://uswest.ensembl.org/Homo_sapiens/Location/View?h=Havana%20gene;r=X:1 53448107-153461633#r=X:153448109-153461632 http://uswest.ensembl.org/Homo_sapiens/Location/View?h=Havana%20gene;r=X:1 53448107-153461633#r=X:153448109-153461632
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Doug Brutlag 2011 Ensembl OPN1MW Opsin Protein http://uswest.ensembl.org/Homo_sapiens/Transcript/ProteinSummary?db=core;g=ENSG00000 147380;r=X:153448107-153461633;t=ENST00000369935 http://uswest.ensembl.org/Homo_sapiens/Transcript/ProteinSummary?db=core;g=ENSG00000 147380;r=X:153448107-153461633;t=ENST00000369935
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Doug Brutlag 2011 Ensembl Tutorials http://uswest.ensembl.org/info/website/tutorials/index.html http://uswest.ensembl.org/info/website/tutorials/index.html
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Doug Brutlag 2011 UCSC Genome Home Page http://genome.ucsc.edu/ http://genome.ucsc.edu/
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Doug Brutlag 2011 UCSC Genome Browser http://genome.ucsc.edu/cgi-bin/hgGateway http://genome.ucsc.edu/cgi-bin/hgGateway
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Doug Brutlag 2011 UCSC Genome Browser http://genome.ucsc.edu/cgi-bin/hgGateway http://genome.ucsc.edu/cgi-bin/hgGateway
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Doug Brutlag 2011 UCSC Genome Browser http://genome.ucsc.edu/cgi-bin/hgTracks?position=chrX:153485203- 153499469&hgsid=216983641&knownGene=pack&hgFind.matches=uc004fkd.2, http://genome.ucsc.edu/cgi-bin/hgTracks?position=chrX:153485203- 153499469&hgsid=216983641&knownGene=pack&hgFind.matches=uc004fkd.2,
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Doug Brutlag 2011 UCSC Genome Browser http://genome.ucsc.edu/cgi-bin/hgTracks?position=chrX:153485203- 153499469&hgsid=216983641&knownGene=pack&hgFind.matches=uc004fkd.2, http://genome.ucsc.edu/cgi-bin/hgTracks?position=chrX:153485203- 153499469&hgsid=216983641&knownGene=pack&hgFind.matches=uc004fkd.2,
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Doug Brutlag 2011 UCSC Proteome Browser http://genome.ucsc.edu/cgi-bin/pbGateway http://genome.ucsc.edu/cgi-bin/pbGateway
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Doug Brutlag 2011 UCSC Proteome Browser http://genome.ucsc.edu/cgi-bin/pbGateway http://genome.ucsc.edu/cgi-bin/pbGateway
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Doug Brutlag 2011 UCSC Help File http://genome.ucsc.edu/goldenPath/help/hgTracksHelp.html http://genome.ucsc.edu/goldenPath/help/hgTracksHelp.html
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