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COURSE OF BIOINFORMATICS 2013-2014 Exam_30/01/2014 B Insert the requested information: • Name and Surname: • Matricula Number: • E-mail address: (I will contact you at this address!!) Human ADAM22 gene Slide 1 remember to annotate the source of the information 1. Report the Gene_ID, the chromosomal and genomic (in bp) localization of the human ADAM22 gene 2. How many different transcript isoforms exist for the ADAM22 gene? Do they differ in their starting point (i.e.: first exon)? 3. Is the ADAM22 gene involved in the etiology of any disorders? If yes, annotate disorder name and corresponding MIM number 4. Which are the genes contained in the genomic region spanning 50 kb upstream and 50 kb downstream to the ADAM22 gene? Is there any difference between RefSeq genes and UCSC genes?Annotate the official Gene symbols and the Gene_IDs of RefSeq genes in the region. Slide 2 remember to annotate the source of the information 5. In the genomic region previously defined, could you identify a CpG island putatively involved in the transcriptional regulation of the ADAM22 gene? Describe some of the main features of the CpG island identified. 6. In your opinion, does the identified CpG island physically overlap with any other genomic DNA feature suggestive of transcriptional regulation? 7. Report the Accession code of the reviewed ADAM22 protein. Which protein domains, if any, are reported and where are they localized? 8. Could you find a murine homologue of the human ADAM22 gene? Annotate its GeneID and its genomic location. Slide 3 remember to annotate the source of the information 9. Do a multiple sequence alignment with the following amino acid sequences (suggestion: use ClustalW2). In your opinion, which is the region showing the higher level of identity? >ADAM22_seq1 FLLLCVLGTCPPARCGQAGDASLMELEKRKENRFVERQSIVPLRLIYRSGGEDESRHDALDTRVRGDLGG PQLTHVDQAS >ADAM22_seq2 FWLLCVLGTCPLARCGRAGVASLKGLERGKENRFLERQSIIPLRLIYRLGGEDETQHNQLDTRVRGDPGG PQLTHVDKAS >ADAM22_seq3 MIFCLLNTLRGISSKVERQWKLKEENIAIIREKLEETQYHLLPCQHAMDYSGMFYDGNHTYLIEPDENYT SDDDFHFHS 10. Retrieve the Accession numbers of the complete sequences from which each of the above fragments was extracted and the species they belong to. Slide 4 remember to annotate the source of the information 11. Using the Gene Ontology database could you infer the cellular component, the biological process and the molecular function of ADAM22 gene? Recontruct the ontology of the GO terms in each of the three categories in which the ADAM22 gene is annotated. Slide 5 remember to annotate the source of the information 12. In the ADAM22 3’ UTR, can you recognize any miRNAs binding sites predicted by at least two different algorithms? Annotate names, binding site position and the accession codes for some of the predicted miRNA.