Bioinformatic-Practice BI11-246

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Name: Nguyen Tuan Thanh

Class: C ( Tutor C1)

Student-ID: BI11-246

Introduction to Ensembl

https://www.youtube.com/watch?time_continue=1442&v=lA2xq3YkWko

Exercise 1 – Panda

(a) Go to the species homepage for Panda. What is the name of the genome assembly
for Panda?

AgamP4

(b) Click on More information and statistics. How long is the Panda genome (in bp)?

2,444,060,653

How many coding genes have been annotated?

20,857

Exercise 2 – Zebrafish

What previous assemblies are available for zebrafish?

Now: GRCz10

Previous: Zv9 and Zv8

Exercise 3 – Mosquitoes
(a) Go to Ensembl Metazoa. How many species of the genus Anopheles are
represented in Ensembl Metazoa?
There are 22 species of genus anopheles

(b) The current Anopheles gambiae genome assembly last revised in 2006

Exercise 4 – Bacteria

Go to Ensembl Bacteria and find the species Belliella baltica.

It has 3,680 coding genes and 53 non-coding.

Exercise 5 – Exploring the human MYH9 gene

(a) Find the human MYH9 (myosin, heavy chain 9, non-muscle) gene, and go to the
Gene

 On which chromosome and which strand of the genome is this gene located?
Chromosome 22: 36,281,280-36,387,967 - Region in detail - Homo_sapiens - Ensembl genome
browser 103

 How many transcripts (splice variants) are there and how many are protein coding?
11 transcript and 3 protein coding
 What is the longest transcript, and how long is the protein it encodes?
MYH9-201 is the longest transcript and has 1960aa protein

(b) Click on Phenotype at the left side of the page. Are there any diseases associated
with this gene, according to O-MIM (Online Mendelian Inheritance in Man)?

Yes, there’re a lots diseases associated with this gene


(c) In the transcript table, click on the transcript ID for MYH9-201, and go to the
Transcript tab.

 How many exons does it have?


41 exons
 Are any of the exons completely or partially untranslated?
The first exon being untranslated

Exercise 6 – Finding a gene associated with a phenotype

Phenylketonuria is a genetic disorder caused by an inability to metabolise phenylalanine


in any body tissue. This results in an accumulation of phenylalanine causing seizures
and mental retardation.

(a) Search for phenylketonuria from the Ensembl homepage and narrow down your
search to only genes. What gene is associated with this disorder?

1 gene PAH

(b) How many protein coding transcripts does this gene have? View all of these in
the transcript comparison view.

6 protein coding transcripts

(c) What is the MIM gene identifier for this gene?

612349

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