A.A CORSO DI BIOINFORMATICA per il CLT in Biotecnologie Sanitarie Università di Padova Docente: Dr. STEFANIA BORTOLUZZI

II LEZIONE Database di interesse per la genetica e la biologia molecolare Portali per l'accesso a database e servizi bioinformatici

DATABASES AND DATA RETRIEVAL Biosequences and Gene-related info

DATABASE DI GENETICA E BIOLOGIA MOLECOLARE OMIMOnline Mendelian Inheritance in Man EntrezGenecurated sequence and descriptive information about genetic loci GenCardsdatabase of human genes, their products and their involvement in diseases HGMDHuman Gene Mutation Database: information about disease-causing mutations in genes dbSNPthe NCBI database of genetic variation (Single Nucleotide Polymorphism)

DATABASE DI GENETICA E BIOLOGIA MOLECOLARE OMIM EntrezGene GenCards HGMD dbSNP

OMIM Online Mendelian Inheritance in Man Catalogo di geni umani e malattie genetiche (Dr. Victor A. McKusick, Johns Hopkins + NCBI) Contiene informazione testuale, riferimenti bibliografici e links a MEDLINE, sequenze e ad altre risorse OMIM gene map Posizioni di mappa citogenetica di geni-malattia e altri geni descritti in OMIM OMIM morbid map Posizioni di mappa citogenetica di geni-malattia indicizzati in OMIM

Use OMIM to explore Rett syndrome

There are entries for both the disease and the gene

Link to NCBI map viewer OMIM number

Numbering and Symbols ID e’ un numero di 6 cifre ( ) Autosomal dominant (before 1994) ( ) Autosomal recessive (before 1994) ( ) X-linked loci or phenotypes ( ) Y-linked loci or phenotypes ( ) Mitochondrial loci or phenotypes ( ) Autosomal loci or phenotypes Preceduto sa un simbolo: * = gene of known sequence # descriptive entry, a phenotype, not a locus + gene of known sequence and a phenotype. % confirmed mendelian phenotype or phenotypic locus but molecular basis is not known No symbol phenotype for which the mendelian basis, although suspected, has not been clearly established or that the separateness of this phenotype from that in another entry is unclear OMIM

Varianti alleliche stesso ID piu’ un altro numero di 4 cifre. Sono MUTAZIONI CHE CAUSANO MALATTIE OMIM

ENTREZ GENE Interfaccia unificata per cercare informazioni su sequenze e loci genetici. Presenta informazioni sulla nomenclatura ufficiale, accession numbers, fenotipi, MIM numbers, UniGene clusters, omologia, posizioni di mappa e link a numerosi altri siti web.

ENTREZ GENE

Gene Table

GeneCards Weizmann Institute of Science, Israele GeneCards is a database of human genes, their products and their involvement in diseases. It offers concise information about the functions of all human genes that have an approved symbol, as well as selected others. The information presented here has been automatically extracted from various resources. GeneCards™ is particulary useful for people who wish to find information about genes of interest in the context of functional genomics and proteomics.

GeneCards INFORMAZIONI SU Aliases and Additional Descriptions Chromosomal Location Proteins Protein Domains/Families/Ontologies Transcripts/Sequences Expression in Human Tissues Similar Genes in Other Organisms Related Human Genes - Paralogs SNPs/Variants Disorders & Mutations Medical News Research Articles Links to the entry of the gene in Other Genome Wide Resources, in general or specialized databases

GeneCards is an integrated database of human genes that includes automatically-mined genomic, proteomic and transcriptomic information, as well as orthologies, disease relationships, SNPs, gene expression, gene function and more. GeneNote is a database of human genes and their expression profiles in healthy tissues (Weizmann Institute of Science DNA array experiments, Affymetrix HG-U95 ) GeneAnnot provides a revised and improved annotation of Affymetrix probe-sets from HG-U95, HG-U133 and HG-U133 Plus2.0. GeneLoc presents an integrated map for each human chromosome, based on data integrated by the GeneLoc algorithm. GeneLoc includes further links to GeneCards, NCBI's Human Genome Sequencing, UniGene, Genome Database, and mapping resources. GeneTide is an automated system for human transcripts (mRNA & ESTs) annotation and elucidation of de-novo genes.

HGMD Human Gene Mutation Database (HGMD) raccoglie le mutazioni conosciute (pubblicate) in geni umani, responsabili di malattie genetiche Creato per studiare il meccanismo delle mutazioni nel genoma umano, per riconoscere le regioni e i loci ipermutabili Ora e’ importante anche come raccolta di dati. Utile per diagnosi molecolare di patologie e consulenza genetica. Non include mutazioni somatiche o mitocondriali, mutazioni silenti. Dal marzo 1999, HGMD include disease-associated polymorphisms. Basato sull’analisi di >250 riviste scientifiche.

HGMD

dbSNP Gli SNPs (single nucleotide polymorphisms), sono polimorfirsmi di singoli nucleotidi, che si ritrovano approssimativamente ogni basi nel genoma umano. Sono molto utilizzati come marcatori genetici soprattutto in studi di associazione.

dbSNP

Portali per l'accesso a database e servizi bioinformatici NCBI (SNP,SAGE, Gene Expression Omnibus, Cancer Chromosomes database, …) ExPASy Proteomics Server ( EBI (EMBL Nucleotide Database, UniProt Knowledgebase, Macromol. Structure Database, ArrayExpress, Ensembl,…, TOOLBOX) (