Ensembl genes and transcripts 

Exercise 1 – 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 reverse strand
 How many transcripts (splice variants) are there and how many are protein
coding?

 What is the longest transcript, and how long is the protein it encodes?
Es el primero de la tabla
 Which transcript is the best quality?
El primero porque sale en dorado, tiene secuencia consenso CCDS, etc.
(b) Click on Phenotype at the left side of the page. Are there any diseases associated
with this gene, according to OMIM (Online Mendelian Inheritance in Man)?

(c) What are some functions of MYH9 according to the Gene Ontology consortium?
Have a look at the GO pages for this gene.
(d) 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
 Are any of the exons completely or partially untranslated?
1
 Is there an associated sequence in UniProtKB/Swiss-Prot? Have a look at the
General identifiers for this transcript.
Pinchar a la izquierda en General Identifiers
(e) Are there microarray (oligo) probes that can be used to monitor ENST00000216181
expression? 
Pinchar en oligoprobes a la izquierda
Exercise 2 – 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?
El gen PAH
(b) How many protein coding transcripts does this gene have? View all of these in the
transcript comparison view.
Hay 6
(c) What is the MIM identifier for this gene?
*612349 (hay que pinchar antes en external references)
 Exercise 3 – Exploring a bacterial gene (Clostridium sporogenes)
Start in http://bacteria.ensembl.org/index.html and select the Clostridium
sporogenes (GCA_001020205) genome.
(a) What GO: biological process terms are associated with the polC
CLSPOx_12590 gene?
DNA replication
(b) Go to the transcript tab for the only transcript, PolC-1. How long is the transcript?
4299 pb
(c) What domains can be found in the protein product of this transcript? How many
different domain prediction methods agree with each of these domains?