BiocenterInnsbruck Medical University



BIOINFORMATICS EXERCISE 1



NOTES


INTRODUCTION (EX1)
CHEAT SHEET (EX1)


1  NCBI, BLAST


1.1  Find difference between insulin sequence in pig and human. Document and discuss points 1-9


1.2  Show that sequence coding for C-peptide is less conserved than sequences coding for the A-chain and the B-chain.




2  ENTREZ, OMIM

Find information on SICKLE CELL ANEMIA and KABUKI SYNDROM using ENTREZ and OMIM.

2.1  Which genes/proteins are involved?

2.2   On which chromosome (arm, cytogenetic band) genes are located?

2.3   What is the position and strand on the human reference genome assembly (GRCh38/hg38)?

2.4   Can these genes also be found in the mouse?

2.5   Are there common mutations i.e. non-synonymous single nucleotide polymorphism (SNPs) known?
      [e.g. see global minor allele frequency (MAF) in gene view of dbSNP]

2.6   What is the function of the encoded proteins?

2.7   Find recent publications



LINKS

NCBI Nucleotides (GenBank)
BLAST
GENE
SignalP 6.0 Server
ENTREZ
OMIM
dbSNP
PubMed
Services
Research
Education
Setting