Bio-Info week 3 assignment

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Rutgers University *

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Biology

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Jan 9, 2024

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Tools for Bioinformatic Analysis Week3- Ensembl Genome Browser (30 points) Exercise 1- Guided activity- To learn how to browse your way to a particular chromosome band and locate genes that way. i. How many protein encoding transcripts does this gene produce? Please give Transcript ID for each. (4 points) This gene produces 8 protein-encoding transcripts. They are: Transcript: ENST00000006777.11 Transcript: ENST00000318622.8 Transcript: ENST00000428119.1 Transcript: ENST00000468304.1 Transcript: ENST00000467406.2 Transcript: ENST00000466232.5 Transcript: ENST00000468644.5 Transcript: ENST00000476218.1 ii. LIST three nonsynonymous variants- two different missense (pick two different amino acids that are affected) and one nonsense (stop gained)/ frameshift in the table below: (9 points Variant ID Map Location aka Chromosome bp Alleles (Change at gene level) Amino acid # affected Change in amino acid Type rs1369947128 7: 75,879,087 C/A/G/T 2 A/E Missense rs1554541927 7: 75,879,046 G/T 5 G/V Missense rs782504216 7:75879115 G/A/T 11 W/C Stop gained
Exercise 2- Guided activity- In this exercise, we will navigate to the gene page directly without looking into chromosome regions. i. Find the mouse CLOCK gene. To which chromosome does it map- give complete location? Is it on the forward or reverse strand? (2 points) Chromosome 5: 76,357,715-76,452,639- Reverse Strand Exercise 3: Use e75 version of ensembl not the current. Type in your browser: e75.ensembl.org- this will take you to the archived 75 th version of ensembl. This is non guided activity- if you have forgotten the steps- you would need to watch the demos again. (a) Find the human MYH9 (myosin, heavy chain 9, non-muscle) gene, and go to the Gene tab . i. On which chromosome and which strand of the genome is this gene located? (1 point) Chromosome 22: 36,677,327-36,784,063-Reverse Strand ii. How many transcripts (splice variants) are there? (1 point) There are 11 transcripts in total. iii. How many of these transcripts are protein-coding? (1 point) 3 transcripts are protein-coding. iv. What is the longest transcript, and how long is the protein it encodes? (1 point) Transcript: MYH9-001 ENST00000216181; Length-1960 AA v. Which transcript has a CCDS record associated with it? (1 point) Transcript: MYH9-001 ENST00000216181 (b) Click on Phenotype at the left side of the page. vi. Are there any diseases associated with this gene, according to MIM ( Mendelian Inheritance in Man )? If so, name one. (1 point) Yes, there are diseases associated with this gene. One of them is EPSTEIN SYNDROME (c) In the transcript table, click on the transcript ID for MYH9-001, and go to the Transcript tab. vii. How many exons does it have? (1 point) 41 exons viii. Have a look at the Ontology table view for the transcript. What are some functions of MYH9- 001? (3 points) Some of the functions are- Microfilament motor activity, Act independent ATPase, Cell Motility, Cell adhesion, and Cell organization.
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