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2010/05/06
                       
kaneko.satoko(at)ocha.ac.jp 
                   
Mac OS X    

               (NCBI, Ensembl) 
Mac OS X                                              

OS/CUI GUI/           /                   

         /                  /                       /            

               

                  pwd/mkdir/cd/ls/less/rm/rmdir  
OS
OS(OperaIng System)
                                                             
 Windows       Mac                OS                             

*Mac OS X      UNIX                            



CUI GUI
OS                                                                       

UNIX Linux                                        (                                  
     )                    CUI (Character User Interface)                     

Windows Mac                                                          
GUI (Graphical User Interface)            




                       CUI
                                 GUI
 
Mac                                       OS        




$          (       )                        



                              
                                                                        
                                                   (Perl, Ruby, 
Java   )                                                

                        /                       
               (       echo $PATH )                        
 
                             



                                                 
                                                     
                         
                            
       
            




     
         
             





                                         
                                             
 
                      (UNIX                  ) 

                                                      
                                                                       Mac           Users


         bin
       dev
      etc
   root
            sbin
           usr
   home
           var



                                                          
       tg01
      tg02
           tg03

          
     
bin
                                                              
dev
                                              
etc
                                                      
root
                                                                                    
sbin
                                                         
usr
                                                                   
home (Users)
                                                                                        
var
 
                                                    (PATH)               

 
                                                                                     
                                                                                         

                                            
                                 /

        bin
                   Users
            usr
            var
    /bin
           /Users
                 /usr
            /var


                 tg01
                   tg02
                    /Users/tg01
         /Users/tg02


                sample1.txt        /Users/tg01/sample1.txt
                                                                                
                     
 
                                                                        
                 tg01                                                                       

 ./.. 
   ..                                                                         
                                                        ./../..
         

                                    bin
               Users
                       usr
          var
                        ./../../bin
           ./..
                               ./../../usr
   ./../../var

.                                      tg01
                               tg02
     .                       
         
                                                         
               ./../tg02

                                    sample1.txt        ./sample1.txt
                                             
                                                                                      ./                 
                                            
 
                                
                                                    
                                                            
                     [Enter]                    


      
                                                                                                     
                                                                               
                     ‘‐’                    
                                                                       

     
$ man ls                    man(manual)                                    
                                    ls                                                   

$ ls –a /Users/tg02         /Users/tg02                        “‐a”               “.”        
                                                        
 (1)
pwd (Print Work Directory) 
                                               tg01
              

$ pwd 
[      /Users/tg01] 




mkdir (MaKe DIRectory) 
                                
                                                  tg01
               
$ mkdir data 
[Finder                   ] 


                                                          data
 (2)
cd (Change Directory) 
                                                                        
                                                                            
                                                                               tg01
                        

$ cd                   
[                    $cd /Users/tg01/data 
                    $cd data] 
                                                                                       data
             
                               cd                                                                           
                                                    



CotEditor                                                       
 name.txt                      
 data                                           

                                                            
data                                    
              a           b                                         
                   
Finder                                                                                           
                                            
 (3)

ls (LiSt directory)                     tg01
                               
                                

$ ls          
[$ls data 
                                                 data
a  b  name.txt] 
                                                                name.txt
$ls –a                               

                                            a
             b

less 
                                

$ less            
[$less name.txt 
      
              ] 

q                        
 (4)
rm (ReMove file) 
                                         

$ rm             
[$rm name.txt] 

$ls        name.txt                          

rmdir (ReMove DIRectory) 
                                                             

$ rmdir                
[$rm a] 
$ rm –rf                   
  ‐rf                                                    
                                

$ls ‐a      data                                     

UNIX                                 
                                                 
1)                                             
2)  bin                                           [/Users/tg01]    
3)                                                                         
4)  bin                  
5)                                     
    bin                                              

      tab                                                              
                                 aabbccdd          bbccddee                    
          ls aa[tab]        ls aabbccdd                   aa                       
           
                       page  , page                                               

                            Web            
             
hip://www.k‐tanaka.net/unix/ 
                     
hip://www5.plala.or.jp/vaio0630/kp/command.htm 
         
 

NCBI 

Ensembl 

NCBI Ensembl        
(   TV)
NCBI 
 NCBI     

 NCBI viewer            
query         /keyword        /             /
              

 DDBJ/EMBL/GenBank                       

             (3): FASTA              
NCBI           
                           
                       
       NCBI                    
NCBI            
hip://www.ncbi.nlm.nih.gov/ 
NCBI     NaIonal Center for Biotechnology InformaIon      
                                  (NIH)        NLM NaIonal Library of Medicine    
1         1988                    
NCBI                (2010 4        )
NCBI Viewer                 query                
                              NCBI                    
                              Search [All Databases] 
                              for [query] 
                                      olfactory receptor 




                                         NCBI                        
                                                             
                                         query               
[All Databases]                                        
                     
NCBI Viewer                               keyword                          
1991     Buck and Axel                               
                                             1082       1082                   
query        [olfactory receptor]       31395 hit                      
["olfactory receptor gene" AND rat AND Olr1082]            
    ""                                                             
         AND                                                   



                                                GenBank
NCBI Viewer                              




              [Macintosh HD/         /tg02/
                    ] sequence.fasta
NCBI Viewer                                              
i)              Accession number                             
   Search  NucleoIde  for  Accession number                      




ii)                     [Links] [PubMed]
                                   




iii)                     [All links from this record]
[NucleoIde]
                                          

                          
[Cited in PMC]                 
DDBJ/EMBL/GenBank                                                                                                                                            

                                    
                                                                                                                                                     
                                                                                                                                        
                                                                                             

               3                                                       
                                                                         
                                                                                                 
                                                                                                                   

LOCUS:                                  
                                                                                           
                                                                                            
                                                                                                                                    

DEFINITION:                     
                   
                                                                           
                                                                                                
                                                                                                     

                                                                                                                                                
ACCESSION:                                                    
                                                                                         
                                                                                                                                                 


                DDBJ/EMBL/GenBank        
                                                    
                                                                     
                                                                       

                                                                          
                                                                                  
                                                                                              
                                                                                                                           



VERSION:                                            
                                                                 
                                                                                 
                                                                                          

KEYWORD:                                     
                                                                                                                                            
                                                                                                                                                         
                                                                                                     

SOURCE:                                                                    
                                                                       
                                                                                   
                                                                                                         

ORGANISM:                        
                                                                                                   
                                                                                                  
                                                                                                       

REFERENCE:                           
                                     
                                                                       
                                                                                    
                                                                                         
                                                                                    
AUTHOR:            
                                                   
                                                                                      
                                                                                         


TITLE:        
                                                        
                                                                       
                                                                       
                                                                                         

                                                                                           
                                                                                                   


JOURNAL:            
                                                  
                                                                       
                                                                                            
                                                                                                                       

MEDLINE:           MEDLINE         
                                                                                                
                                                                                                       
                                                                                                                       

FEATURES:                                                              
                                                                       
                                                                                                                                                             
                                                                                                                                                                     
                                                                                                                                                                 
                                                                       
                                                                                       
                                                                                                                                                 


CDS: Protein‐coding sequence                                           
                                                                  
                                                                                         

                                                                                                                                            
ORIGIN:                             
                    
(3): FASTA                           
FASTA                                                         
                                 1                   1                
'>'                                       
2                                                                         
2                                             
      




          (query)                    (           )                                    
                                                                  
                                                                                  
Ensembl
    Ensembl       
       

    Ensembl viewer                     keyword        
      

                                    
       

                                        
              (4): Synteny 
              (5): Ortholog, Paralog, Homolog 
       

                            
              (6):                                
              (7):              
       

                               
              (8): Gene Ontology 
Ensembl    
                             
                  Ensembl            
Ensembl             
hip://www.ensembl.org/ 
Ensembl   EMBL‐EBI(            ) Sangar InsItute( )            
2000                        
             NCBI                             (       )    
             
Ensembl Viewer                                   keyword               
NCBI                 
                                            1082   1082                        
query       [olfactory receptor]              Ensembl                           
         olfactory receptor                                                
Search for [rat Olr1082]            




       
e.g. human gene BRCA2or rat X:100000..200000 or insulin            
query       [               ], [                ], [      ]    
Ensembl Viewer             
                       
Browse a Genome
 
                     
query
 (1) 
LocaIon                        
           
 (2) 
                                  
                              
ComparaIve Genomics(                      )  
GeneIc VariaIon(                                )  
Markers(
sequence tagged site (STS)           ) 
                        




Configure this page                               
             
Export data
 ‐Region in detail‐ 


                           Ensembl
           annotate
 ‐Configure this page1‐ 
Configure this page                                   
                     Save and close      
Ensembl
 ‐Configure this page2‐ 

conIg           start/stop codon
                          



Affymetrix        microarray  
                probe          
                       




repeat
 ‐Configure this page3‐ 

       genome
                    alignment
                         



       BLASTZ                   
                           




       GC                           
 ‐Configure this page4‐ 

                              
                      


                    Synteny
‐Synteny‐ 

             7           
                        synteny
                              
                  




                                 
              13 (chicken, 
     chimpanzee, cow, dog, 
     horse, macaque, mouse, 
     opossum, orangutan     )

       3 (dog, human, rat)
     synteny        
(4) Synteny (                )
                                               
     rearrangement                         
1                    1
                                       

                                   
22         19             
 (1) 
Gene   ID           ID    
 (2) 
‐Gene summary‐ 
                
Ensembl   ID       




                   ConIg
 ‐Splice variants‐ 
alternaIve splicing    


                                                             



                                                       



                                          splicing variant

                                                   
 ‐SupporIng evidence‐ 
Ensembl      



            Ensembl
                                                           

            NCBI               NCBI
                      alignment      




                            Olr1082                
                                        Olr1081
                                                           
 ‐Marked‐up sequence‐ 
exon                    




       Exon                                  


         Configure this page                  
 ‐RegulaIon‐ 
rat Olr1082                                               
           (       sonic hedgehog)                   




cisRED (cis‐regulatory element database):                                   
CTCF (CCCTC‐binding factor): zinc‐finger protein              (insulaIon)
 ‐Genomic alignments‐ 
alignment                                     




                   Select an alignment
 –Gene Tree‐ 
         


                          alignment             
            maximum likelihood      
                                        
–Gene Tree (text)‐ 
                                                 




                                                                        0.006

                                                              0.029
        0.006

                                                     0.165
             0.035
            
((((human :0.006, chimpanzee :0.006) :0.029,              0.180
macaque :0.035) :0.165), 
(mouse :0.02, rat :0.02) :0.180);
                                     0.020

                                                                           0.020
–Gene Tree (alignment) 1‐ 
Gene Tree                    alignment                                 




                                             MSF format: 
                                                            ID              

                                                             ID
                                                                




Configure this page   alignment
–Gene Tree (alignment) 2‐ 
                                   
FASTA           
>                                                 

                    
                                        
            alignment
                  

NEXUS    
#NEXUS ntax(                               ), 
nchar(                         )
                                    
                           alignment 10

         
                        

                            
–Orthologues‐ 
ortholog                 




              Species:               
              Type: Ortholog               
              (                           ) 
              dN/dS:                                     /

                                 
              (                           ) 
              Ensembl idenHfier: Ensembl        ID 
              External ref.: Ensembl
                             ID                       
(5): Ortholog, Paralog, Homolog
                                         a
                                
                               a
              a'
    
    a1
                 a'1
                     a2
             a'2
                   1
                                       2
a                                   a'                  1   2               
    (ortholog):                                (a1 a2 a'1 a'2) 
 (paralog):                                      (a1 a'1 a2 a'2 a1 a'2 a'1 a2) 
                                                                          
                                                                 

(homolog):                                         
(5): Ortholog, Paralog –                                               ‐

                                                                              a
         t1
                                                
                                                                    a
                   a'
         t2
                          
                                      a1
                    a'1
                            a2
                a'2
                                                    1
                                                2
                                                                        (              , molecular clock)
                                                 
                                                                                                             

ortholog                                    2           t2          (        a1 a2                   )  
      paralog              a1 a'1                                                                               a
            2      (t1+t2)   (    a1 a'1                                    )  

ortholog paralog                                     
                          (ortholog   paralog                                     ) 
                             (                                                           )                           
(6):                                                        
                                Coding Sequence                          2                           
                   (synonymous subsItuIon)                                     
                      (nonsynonymous subsItuIon)                                     
               
dS, Ks                                       (the rate of synonymous subsItuIons) 
dN, Ka                                          (the rate of nonsynonymous subsItuIons) 

                                 2nd base
1st base
                                                     3rd base
 AUG                  
                     U
         C
        A
         G
                  UUU
 Phe
 UCU
 Ser
 UAU
 Tyr
 UGU
 Cys
       U
                                                                      UAA, UAG, UGA                          
                  UUC
 Phe
 UCC
 Ser
 UAC
 Tyr
 UGC
 Cys
       C
        U
                  UUA
 Leu
 UCA
 Ser
 UAA
 stop
 UGA
 stop
     A
    1st                                    
                  UUG
 Leu
 UCG
 Ser
 UAG
 stop
 UGG
 Trp
      G
                                               
                  CUU
 Leu
 CCU
 Pro
 CAU
 His
 CGU
 Arg
       U
    (Leu, Arg) 
                  CUC
 Leu
 CCC
 Pro  CAC
 His
 CGC
 Arg
       C
        C
        CUA
 Leu
 CCA
 Pro
 CAA
 Gln
 CGA
 Arg
       A
                  CUG
 Leu
 CCG
 Pro  CAG
 Gln
 CGG
 Arg
       G
    2nd                                
                  AUU
 Ile
 ACU
 Thr
 AAU
 Asn
 AGU
 Ser
       U
                               
                  AUC
 Ile
 ACC
 Thr
 AAC
 Asn
 AGC
 Ser
       C
        A
        AUA
 Ile
 ACA
 Thr
 AAA
 Lys
 AGA
 Arg
       A
                  AUG
 Met
 ACG
 Thr
 AAG
 Lys
 AGG
 Arg
       G
                  GUU
 Val
 GCU
 Ala
 GAU
 Asp
 GGU
 Gly
       U
                  GUC
 Val
 GCC
 Ala
 GAC
 Asp
 GGC
 Gly
       C
        G
                  GUA
 Val
 GCA
 Ala
 GAA
 Glu
 GGA
 Gly
       A
                                                  
                  GUG
 Val
 GCG
 Ala
 GAG
 Glu
 GGG
 Gly
       G
–Orthologues           ‐ 
ortholog_one2one:             1 1        
ortholog_one2many:                            
ortholog_many2many: 
         
apparent_ortholog_one2one:          3
                                                           
–Paralogues‐ 
paralog     



                                   
                               
                                   
–Protein families‐ 



Family ID:                            ID   
           Olr1082                              57                         
Consensus annotaHon:                                     
Other Rat transcripts in this family:                                          
MulHple alignments:                                          alignment 
–VariaIon Table (1)‐ 
                                               




                                                                              Ambiguity
                                                                         Code
 Represents
                                                                         Y
     Pyrimidine (C&T)
                                                                         R
     Purine (A&G)

ID: SNP ID (               SNP         100bp                   )         W
     weak (A&T)

Type: SNP        (                 /               UTR    )              S
     strong (G&C)

Chr: bp:                   (bp)                                          K
     keto (T&G)

Alleles:                                                                 M
     amino (C&A)
Ambiguity:         variaIon                                              D
     not C
AA change:                                                               V
     not T
AA co‐ordinate:                        (                 )               H
     not G
Class:              inserIon                                             B
     not A
Source: variaIon                                                         X/N
   unknown
ValidaHon: variaIon                                (frequency hapmap   )   
(7):                          
                                              
        (polymorphism)                    (subsItuIon)            

1         (mutaIon)                                           
                                                                  
                                                          



                         
                
    
          
                                    
        
                         
                

                                         
                                                                      
     (advantageous)          (neutral)   (deleterious)                    
(7):                 –alignment ‐
                                      (    )
        (    )
                        10          20        
        
 T······A·· ······C··G
        
 ·······A·· ·C····C··G
        
 T······A·· ······C··G
        
 T······A·· ·C····C···
        
 ····C··A·· ······C···
        
 CAGGGCATCC GTCCTCGCCA
        
 ·TC······· ····C···G·
        
 ·T·······T ····C·····
        
 ·T·······T ····C··C··
        
 ·T····T··T ····C·····
        
 ·T········ ····C···G·
–VariaIon Table (2)‐ 
VariaIon Table                        Configure this page                           

                                                                               




VariaHon source: variaIon                     
VariaHon class: variaIon               
                   Heterozygous variaIon: 1           variaIon 
                   MNPs: MulI NucleoIde Polymorphisms 
ValidaHon: variaIon                                       
VariaHon type: variaIon                                       
DAS source:                               (DAS       Distributed AnnotaIon System     )   
Display opHons:                                   
–ID History‐ 
        ID   version                




Assembly(            )   version           
                  gap                          
                                    
Transcript summary             




Ensembl     ID      (       )           (Ra#us norvegicus )     
ENSG… Gene                          ENSRNOG… Rat Gene 
ENST… Transcript                    ENSRNOT… Rat Transcript 
ENSE… Exon                          ENSRNOE… Rat Exon 
ENSP… Protein
                      ENSRNOP… Rat Protein
–SupporIng evidence, Exons‐ 
NCBI                  




                         




                 exon, intron, 5' upstream, 
                 3' downstream
                                          
–cDNA sequence‐ 
splicing   exon                       
                                                       




variaIon                
            variaIon            
               
                            
–Protein sequence‐ 
(   )    




                            

                                     

            indel
                      
            splice                   
–General idenIfiers‐ 
            ID      
     alignment              
–Oligo probes‐ 
                                      microarray oligo probe      




[view all locaIons]    
oligo probe                
                                   
oligo probe    25bp            

         
–Gene ontology‐ 
                Gene ontology        




                                    Evidence                                              
                                    IC ‐ Inferred by Curator 
                                    IDA‐ Inferred from Direct Assay 
                                    IEA ‐ Inferred from Electronic AnnotaIon 
                                    IEP ‐ Inferred from Expression Paiern 
                                    IGI ‐ Inferred from GeneIc InteracIon 
                                    IMP ‐ Inferred from Mutant Phenotype 
                                    IPI ‐ Inferred from Physical InteracIon 
                                    ISS ‐ Inferred from Sequence or Structural Similarity 
                                    NAS ‐ Non‐traceable Author Statement 
                                    ND ‐ No biological Data available 
                                    RCA ‐ inferred from Reviewed ComputaIonal 
                                    Analysis 
                                    TAS ‐ Traceable Author Statement 
Gene Ontology                       NR ‐ Not Recorded
                            
(8): Gene Ontology
Gene Ontology (GO) 
                                        


                                                        
GO                         GO Term                 Go Term 3
              
biological process                              
cellular component                          
molecular funcIon                   

   olfactory receptor gene
  molecular_funcIon [GO:0003674] 
        molecular transducer acIvity [GO:0060089] 
             signal transducer acIvity [GO:0004871] 
                  receptor acIvity [GO:0004872] 
                        transmembrane receptor acIvity [GO:0004888] 
                             G‐protein coupled receptor acIvity [GO0004930] 
                                 rhodopsin‐like receptor acIvity [GO:0001584]
–PopulaIon comparison, 
                                                      Comparison image‐ 
                                 




Comarison Image      
PopulaIon comparison  
                          
–Protein summary‐ 
–Domains & features‐ 
            




             [Display all genes with domain] 
–Transcript ID History‐ 


                     ID
           version            



                          version
            annotaIon
               
Ensembl  104   (2010 4   )


                version


NCBI     108 (2010 4      )
 

              (NCBI Ensembl)       viewer    
‐   version      Ensembl              


                                             

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100506-unix-ensembl

  • 1. 2010/05/06   kaneko.satoko(at)ocha.ac.jp   
  • 2. Mac OS X   (NCBI, Ensembl) 
  • 3. Mac OS X OS/CUI GUI/ / / / /     pwd/mkdir/cd/ls/less/rm/rmdir  
  • 4. OS OS(OperaIng System)   Windows Mac OS    *Mac OS X UNIX   CUI GUI OS   UNIX Linux (   ) CUI (Character User Interface)    Windows Mac   GUI (Graphical User Interface)    CUI GUI
  • 5.   Mac OS   $ ( )       (Perl, Ruby,  Java )   /   ( echo $PATH )  
  • 6.                      
  • 7.   (UNIX )  Mac Users bin dev etc root sbin usr home var tg01 tg02 tg03 bin dev etc root sbin usr home (Users) var
  • 8.   (PATH)         / bin Users usr var /bin /Users /usr /var tg01 tg02 /Users/tg01 /Users/tg02 sample1.txt  /Users/tg01/sample1.txt  
  • 9.     tg01   ./..  ..     ./../.. bin Users usr var ./../../bin ./.. ./../../usr ./../../var .  tg01 tg02 .   ./../tg02 sample1.txt  ./sample1.txt   ./  
  • 10.         [Enter]         ‘‐’      $ man ls        man(manual)             ls   $ ls –a /Users/tg02    /Users/tg02 “‐a” “.”              
  • 11.  (1) pwd (Print Work Directory)    tg01 $ pwd  [   /Users/tg01]  mkdir (MaKe DIRectory)    tg01 $ mkdir data  [Finder ]  data
  • 12.  (2) cd (Change Directory)      tg01 $ cd    [ $cd /Users/tg01/data    $cd data]  data    cd             CotEditor   name.txt   data     data   a b     Finder    
  • 13.  (3) ls (LiSt directory)  tg01   $ ls    [$ls data    data a  b  name.txt]  name.txt $ls –a        a   b less    $ less    [$less name.txt    ]  q  
  • 14.  (4) rm (ReMove file)    $ rm    [$rm name.txt]  $ls name.txt   rmdir (ReMove DIRectory)    $ rmdir    [$rm a]  $ rm –rf   ‐rf      $ls ‐a data   UNIX    
  • 15. 1)    2)  bin [/Users/tg01]   3)    4)  bin   5)    bin   tab   aabbccdd bbccddee   ls aa[tab] ls aabbccdd  aa       page  , page Web     hip://www.k‐tanaka.net/unix/    hip://www5.plala.or.jp/vaio0630/kp/command.htm   
  • 17. ( TV)
  • 18. NCBI  NCBI   NCBI viewer   query /keyword / /   DDBJ/EMBL/GenBank   (3): FASTA  
  • 19. NCBI       NCBI  
  • 20. NCBI   hip://www.ncbi.nlm.nih.gov/  NCBI   NaIonal Center for Biotechnology InformaIon    (NIH)   NLM NaIonal Library of Medicine   1 1988   NCBI (2010 4 )
  • 21. NCBI Viewer query   NCBI   Search [All Databases]  for [query]  olfactory receptor  NCBI         query   [All Databases]      
  • 22. NCBI Viewer keyword   1991 Buck and Axel   1082 1082   query [olfactory receptor] 31395 hit   ["olfactory receptor gene" AND rat AND Olr1082]     ""     AND   GenBank
  • 23. NCBI Viewer   [Macintosh HD/ /tg02/ ] sequence.fasta
  • 24. NCBI Viewer   i)  Accession number      Search  NucleoIde  for  Accession number   ii)  [Links] [PubMed]   iii)  [All links from this record] [NucleoIde]     [Cited in PMC]  
  • 25. DDBJ/EMBL/GenBank                                                     3              LOCUS:                            DEFINITION:                   ACCESSION:                                  DDBJ/EMBL/GenBank                VERSION:                KEYWORD:                                SOURCE:                                         ORGANISM:                                                                    REFERENCE:                                                          AUTHOR:                                         TITLE:                                                                 JOURNAL:                                            MEDLINE:  MEDLINE                                                                   FEATURES:                                                                                                            CDS: Protein‐coding sequence                                      ORIGIN:        
  • 26. (3): FASTA FASTA   1 1   '>'   2   2   (query) ( )      
  • 27. Ensembl Ensembl       Ensembl viewer keyword             (4): Synteny  (5): Ortholog, Paralog, Homolog        (6):    (7):          (8): Gene Ontology 
  • 28. Ensembl     Ensembl  
  • 29. Ensembl   hip://www.ensembl.org/  Ensembl EMBL‐EBI( ) Sangar InsItute( )   2000    NCBI ( )    
  • 30. Ensembl Viewer keyword    NCBI   1082 1082   query [olfactory receptor] Ensembl   olfactory receptor   Search for [rat Olr1082]     e.g. human gene BRCA2or rat X:100000..200000 or insulin   query [ ], [ ], [ ]  
  • 31. Ensembl Viewer     Browse a Genome
  • 32.     query
  • 34.  (2)      ComparaIve Genomics( )   GeneIc VariaIon( )   Markers( sequence tagged site (STS) )    Configure this page     Export data
  • 35.  ‐Region in detail‐  Ensembl annotate
  • 37.  ‐Configure this page2‐  conIg start/stop codon Affymetrix microarray   probe   repeat
  • 38.  ‐Configure this page3‐  genome alignment BLASTZ   GC  
  • 40. ‐Synteny‐  7   synteny     13 (chicken,  chimpanzee, cow, dog,  horse, macaque, mouse,  opossum, orangutan ) 3 (dog, human, rat) synteny  
  • 41. (4) Synteny ( )   rearrangement   1 1     22 19  
  • 42.  (1)  Gene ID ID  
  • 44. ‐Gene summary‐    Ensembl ID ConIg
  • 46.  ‐SupporIng evidence‐  Ensembl   Ensembl   NCBI NCBI alignment   Olr1082   Olr1081  
  • 47.  ‐Marked‐up sequence‐  exon   Exon   Configure this page   
  • 48.  ‐RegulaIon‐  rat Olr1082   ( sonic hedgehog)  cisRED (cis‐regulatory element database):    CTCF (CCCTC‐binding factor): zinc‐finger protein (insulaIon)
  • 49.  ‐Genomic alignments‐  alignment   Select an alignment
  • 50.  –Gene Tree‐    alignment   maximum likelihood     
  • 51. –Gene Tree (text)‐  0.006 0.029 0.006 0.165 0.035   ((((human :0.006, chimpanzee :0.006) :0.029,   0.180 macaque :0.035) :0.165),  (mouse :0.02, rat :0.02) :0.180); 0.020 0.020
  • 52. –Gene Tree (alignment) 1‐  Gene Tree alignment MSF format:  ID   ID   Configure this page alignment
  • 53. –Gene Tree (alignment) 2‐  FASTA   >       alignment   NEXUS   #NEXUS ntax( ),  nchar( )   alignment 10      
  • 54. –Orthologues‐  ortholog   Species:    Type: Ortholog   ( )  dN/dS:  /    ( )  Ensembl idenHfier: Ensembl ID  External ref.: Ensembl ID  
  • 55. (5): Ortholog, Paralog, Homolog a a a' a1 a'1 a2 a'2 1 2 a a' 1 2    (ortholog):   (a1 a2 a'1 a'2)   (paralog):   (a1 a'1 a2 a'2 a1 a'2 a'1 a2)      (homolog):   
  • 56. (5): Ortholog, Paralog – ‐ a t1 a a' t2 a1 a'1 a2 a'2 1 2 ( , molecular clock)     ortholog 2 t2 ( a1 a2   )   paralog a1 a'1 a 2 (t1+t2) ( a1 a'1 )   ortholog paralog   (ortholog paralog )  ( )  
  • 57. (6):  Coding Sequence 2   (synonymous subsItuIon)   (nonsynonymous subsItuIon)            dS, Ks (the rate of synonymous subsItuIons)  dN, Ka (the rate of nonsynonymous subsItuIons)  2nd base 1st base 3rd base AUG   U C A G UUU Phe UCU Ser UAU Tyr UGU Cys U UAA, UAG, UGA   UUC Phe UCC Ser UAC Tyr UGC Cys C U UUA Leu UCA Ser UAA stop UGA stop A 1st   UUG Leu UCG Ser UAG stop UGG Trp G   CUU Leu CCU Pro CAU His CGU Arg U (Leu, Arg)  CUC Leu CCC Pro  CAC His CGC Arg C C CUA Leu CCA Pro CAA Gln CGA Arg A CUG Leu CCG Pro  CAG Gln CGG Arg G 2nd   AUU Ile ACU Thr AAU Asn AGU Ser U   AUC Ile ACC Thr AAC Asn AGC Ser C A AUA Ile ACA Thr AAA Lys AGA Arg A AUG Met ACG Thr AAG Lys AGG Arg G GUU Val GCU Ala GAU Asp GGU Gly U GUC Val GCC Ala GAC Asp GGC Gly C G GUA Val GCA Ala GAA Glu GGA Gly A GUG Val GCG Ala GAG Glu GGG Gly G
  • 58. –Orthologues ‐  ortholog_one2one:  1 1   ortholog_one2many:    ortholog_many2many:    apparent_ortholog_one2one:  3  
  • 60. –Protein families‐  Family ID:  ID         Olr1082 57   Consensus annotaHon:    Other Rat transcripts in this family:    MulHple alignments:  alignment 
  • 61. –VariaIon Table (1)‐  Ambiguity Code Represents Y Pyrimidine (C&T) R Purine (A&G) ID: SNP ID ( SNP 100bp )  W weak (A&T) Type: SNP ( / UTR )  S strong (G&C) Chr: bp:  (bp)  K keto (T&G) Alleles:    M amino (C&A) Ambiguity:  variaIon   D not C AA change:    V not T AA co‐ordinate:  ( )   H not G Class:  inserIon   B not A Source: variaIon     X/N unknown ValidaHon: variaIon (frequency hapmap )   
  • 62. (7):    (polymorphism) (subsItuIon)   1 (mutaIon)         (advantageous) (neutral) (deleterious)  
  • 63. (7):  –alignment ‐ ( ) ( )         10          20         T······A·· ······C··G ·······A·· ·C····C··G T······A·· ······C··G T······A·· ·C····C··· ····C··A·· ······C··· CAGGGCATCC GTCCTCGCCA ·TC······· ····C···G· ·T·······T ····C····· ·T·······T ····C··C·· ·T····T··T ····C····· ·T········ ····C···G·
  • 64. –VariaIon Table (2)‐  VariaIon Table Configure this page     VariaHon source: variaIon      VariaHon class: variaIon      Heterozygous variaIon: 1 variaIon  MNPs: MulI NucleoIde Polymorphisms  ValidaHon: variaIon   VariaHon type: variaIon   DAS source:  (DAS Distributed AnnotaIon System )    Display opHons:      
  • 65. –ID History‐  ID version   Assembly( ) version   gap    
  • 66. Transcript summary Ensembl ID ( )  (Ra#us norvegicus )   ENSG… Gene  ENSRNOG… Rat Gene  ENST… Transcript  ENSRNOT… Rat Transcript  ENSE… Exon  ENSRNOE… Rat Exon  ENSP… Protein ENSRNOP… Rat Protein
  • 67. –SupporIng evidence, Exons‐  NCBI   exon, intron, 5' upstream,  3' downstream  
  • 68. –cDNA sequence‐  splicing exon     variaIon   variaIon      
  • 69. –Protein sequence‐  ( )       indel   splice  
  • 70. –General idenIfiers‐  ID   alignment  
  • 71. –Oligo probes‐  microarray oligo probe   [view all locaIons]   oligo probe     oligo probe 25bp    
  • 72. –Gene ontology‐  Gene ontology   Evidence   IC ‐ Inferred by Curator  IDA‐ Inferred from Direct Assay  IEA ‐ Inferred from Electronic AnnotaIon  IEP ‐ Inferred from Expression Paiern  IGI ‐ Inferred from GeneIc InteracIon  IMP ‐ Inferred from Mutant Phenotype  IPI ‐ Inferred from Physical InteracIon  ISS ‐ Inferred from Sequence or Structural Similarity  NAS ‐ Non‐traceable Author Statement  ND ‐ No biological Data available  RCA ‐ inferred from Reviewed ComputaIonal  Analysis  TAS ‐ Traceable Author Statement  Gene Ontology   NR ‐ Not Recorded  
  • 73. (8): Gene Ontology Gene Ontology (GO)      GO GO Term Go Term 3   biological process   cellular component   molecular funcIon    olfactory receptor gene molecular_funcIon [GO:0003674]    molecular transducer acIvity [GO:0060089]      signal transducer acIvity [GO:0004871]        receptor acIvity [GO:0004872]          transmembrane receptor acIvity [GO:0004888]            G‐protein coupled receptor acIvity [GO0004930]              rhodopsin‐like receptor acIvity [GO:0001584]
  • 74. –PopulaIon comparison,                          Comparison image‐  Comarison Image   PopulaIon comparison    
  • 76. –Domains & features‐  [Display all genes with domain] 
  • 77. –Transcript ID History‐  ID version   version annotaIon  
  • 78. Ensembl  104 (2010 4 ) version NCBI   108 (2010 4 )
  • 79.   (NCBI Ensembl) viewer   ‐ version Ensembl