CS444: BIOINFORMATICS (Assignment 1 - Lab)
(To be made handwritten)
The following transcript was found to be abundant in a human patient’s blood sample.
>Example
ACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTC
AAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGATGTTCC
TGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGG
CCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTG
TCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGCTCCTAAGCCACT
GCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAA
GTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGCCATGCTT
CTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGCACCCGTACCCCCGTGGTCTTTGAATAA
AGTCTGAGTGGGCGGCA
Q1:
Which BLAST program should we use in this case?
Sol:
Q2:
What are the names and accession numbers of the top ten hits from your BLAST search?
Sol:
Q3:
What are the percent identities for the top five hits?
Sol:
Q4:
How many identical and non identical nucleotides are there in your top hit compared to your last reported hit?
Sol:
Q5:
What is the “Official Symbol” and “Official Full Name” for this gene?
Sol:
Q6:
What is the “Lineage” for this gene?
Sol:
Q7:
What chromosome is this gene located on?
Sol:
Q8:
How many exons are annotated for this gene?
Sol:
Q9:
What is the function of the encoded protein?
Sol:
Q10:
Does the protein have a role in human disease(s)? If so, what diseases?
Sol:
Q1:
Nucleotide BLAST (BLASTN)
Q2:
Homo sapiens hemoglobin subunit alpha 1 (HBA1), mRNA NM_000558.5
Homo sapiens hemoglobin, alpha 1, mRNA (cDNA clone MGC:14541 IMAGE:4047053), complete cds BC005931.1
Homo sapiens mRNA for alpha 2 globin variant, clone: FCC107C11 AK223392.1
Homo sapiens hemoglobin, alpha 1, mRNA (cDNA clone MGC:29691 IMAGE:4849981), complete cds BC032122.2
Homo sapiens hemoglobin, alpha 1, mRNA (cDNA clone MGC:60177 IMAGE:5209215), complete cds BC050661.1
Homo sapiens hemoglobin subunit alpha 2 (HBA2), mRNA NM_000517.6
Homo sapiens messenger mRNA for hemoglobin alpha chain V00493.1
Homo sapiens hemoglobin, alpha 1, mRNA (cDNA clone MGC:17020 IMAGE:4177243), complete cds BC008572.1
Homo sapiens full length insert cDNA clone YB24D09 AF147332.1
Q3:
100.00% NM_000558.5
100.00% BC005931.1
99.83% AK223392.1
100.00% BC032122.2
100.00% BC050661.1
Q4:
All are identical
Q5:
HBA1, hemoglobin subunit alpha 1()
Q6:
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Q7:
Chromosome 16
Q8:
Three exons
Q9:
HBA1 encodes hemoglobin subunit alpha - a component of hemoglobin that performs the transportation of the oxygen in the blood.
Q10:
Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1
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