Special

MmuEX0048530 @ mm9

Exon Skipping

Gene
ENSMUSG00000026849 | Tor1a
Description
torsin family 1, member A (torsin A) [Source:MGI Symbol;Acc:MGI:1353568]
Coordinates
chr2:30818995-30822875:-
Coord C1 exon
chr2:30822610-30822875
Coord A exon
chr2:30819214-30819389
Coord C2 exon
chr2:30818995-30819122
Length
176 bp
Sequences
Splice sites
3' ss Seq
AGGGCCCCCTTGTCCTTCAGGAC
3' ss Score
8.8
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
Exon sequences
Seq C1 exon
CGCTGCAGAAAGATCTGGATAACAAGCTCTTTGGACAGCATCTTGCAAAAAAAGTCATCCTAAACGCCGTGTCTGGTTTCCTAAGCAACCCGAAGCCCAAGAAGCCCCTTACCCTCTCTCTGCACGGGTGGACGGGCACCGGCAAAAACTTCGCCAGCAAGATCATCGCGGAGAATATTTACGAGGGCGGACTGAACAGTGACTATGTACACCTGTTTGTGGCCACGCTACACTTCCCCCACGCCTCTAACATCACACAGTATAAG
Seq A exon
GACCAGTTACAGATGTGGATCAGAGGCAACGTGAGCGCCTGTGCTCGCTCCATCTTCATCTTTGATGAGATGGACAAGATGCATGCCGGCCTCATCGACGCCATCAAGCCTTTCCTAGACTATTACGATGTGGTAGATGAGGTCTCCTATCAGAAAGCCATCTTCATCTTCCTCAG
Seq C2 exon
CAATGCAGGGGCAGAGAGGATCACAGACGTGGCTCTGGATTTCTGGAAAAGTGGGAAGCAGAGGGAAGAAATCAAGCTCAGAGACATGGAGCCCGCCCTGGCCGTGTCGGTCTTCAATAACAAGAACA
VastDB Features
Vast-tools module Information
Secondary ID
ENSMUSG00000026849-'2-5,'2-3,5-5
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact





	

	
ORF disruption upon sequence exclusion





No structure available

		

			
Features


			

				
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.000
 
                        

				
Domain overlap (PFAM):

					





						

							
C1:
PF063096=Torsin=FE(69.8=100)

							
A:
PF063096=Torsin=PD(15.9=33.9)

							
C2:
NO

						

					

				








    
Main Inclusion Isoform:
ENSMUSP00000028200





     
                   









    
Main Skipping Isoform:
NA





     
      









    
Other Inclusion Isoforms:
ENSMUSP00000128959
          









    
Other Skipping Isoforms:
NA
  



Associated events






Other assemblies


mm10




Conservation


Human
(hg38)
chr9:129807188-129807363 
ALTERNATIVE
HsaEX0066553
(TOR1B)
Human
(hg19)
chr9:132569467-132569642 
HIGH PSI
HsaEX0066553
(TOR1B)
Rat
(rn6)
chr3:9795799-9795974 
HIGH PSI
RnoEX0092838
(Tor1b)
Cow
(bosTau6)
chr11:100223268-100223443 
HIGH PSI
BtaEX6046638
(TOR1A)
Chicken
(galGal4)
chr17:5696113-5696288 
HIGH PSI
GgaEX6015167
(TOR1B)
Chicken
(galGal3)
chr17:6258912-6259087 
HIGH PSI
GgaEX6015169
(TOR1A)
Zebrafish
(danRer10)
chr21:3631579-3631754 
HIGH PSI
DreEX0080648
(tor1)
Fruitfly
(dm6)
No conservation detected




Primers PCR

	

		

			
Suggestions for RT-PCR validation

			

				
F: 
TAAACGCCGTGTCTGGTTTCC

				
R: 
CCAGAAATCCAGAGCCACGTC

				
Band lengths: 
252-428

			

		

	





	
Functional annotations
(Submit an annotation)

	


There are 0 annotated functions for this event 


		










GENOMIC CONTEXT[edit]












INCLUSION PATTERN[edit]






SPECIAL DATASETS
  • Pre-implantation embryo development
  • Neural differentiation time course
  • Muscular differentiation time course
  • Spermatogenesis cell types
  • Reprogramming of fibroblasts to iPSCs
  • Hematopoietic precursors and cell types






Retrieved from "https://vastdb.crg.eu/wiki/Special:VastDB"