Special

MmuEX6101244 @ mm9

Exon Skipping

Gene
ENSMUSG00000026950 | Neb
Description
nebulin [Source:MGI Symbol;Acc:MGI:97292]
Coordinates
chr2:52119016-52123321:-
Coord C1 exon
chr2:52123214-52123321
Coord A exon
chr2:52119406-52119717
Coord C2 exon
chr2:52119016-52119219
Length
312 bp
Sequences
Splice sites
3' ss Seq
ACTCTGTTTCCTGATTTCAGTTT
3' ss Score
8.34
5' ss Seq
GAGGTCAGT
5' ss Score
7.7
Exon sequences
Seq C1 exon
AAATCCTATAGACTTGGTTGGGAAGAGGCTCTGAAGAAAGGCTATGATCTCCCTGTTGATGCGATTTCTGTCCAGCTGGCCAAGACATCAAGGGACATTGCTAGTGAC
Seq A exon
TTTAAATATAAACAAGGCTACCGGAAACAACTGGGACACCATATTGGATTCCTCAGTGTGCAAGATGACCCAAAGCTTGTGCTATCAATGAATGTAGCCAAAATGCAGAGCGACAGGGAGTACAAGAAGGACTTTGAGAAGTGGAAAACCAAATACACCAGCCCTGTGGACATGCTGGGGGTGGTGTTGGCCAAGAAGTGCCAGGCCTTGGTCAGTGATGCTGACTACAGGAACTACCTACACCAGTGGACGTGCCTACCTGACCAGAATGACGTCATCCAAGCTAAAAAGGTCTATGAGCTACAAAGTGAG
Seq C2 exon
AATATGTATAAGTCTGACCTAGAGTGGCTGAGAGGCATAGGATGGAGTCCCCTGGGTTCTTTGGAAGCAGAAAAGAACAAGCGGGCTTCAGAAATCATCAGTGAGAAGAAATACCGCCAACCTCCAGACAGAAATAAGTTCACCAGCATCCCTGACGCCATGGACATAGTTCTGGCTAAAACAAATGCCAAAAACAGGAGTGAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSMUSG00000026950-'54-56,'54-55,55-56=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact





	

	
Alternative protein isoforms (Ref)





No structure available

		

			
Features


			

				
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.118
 
                        

				
Domain overlap (PFAM):

					





						

							
C1:
PF0088013=Nebulin=PD(37.9=30.6),PF0088013=Nebulin=PU(55.2=44.4)

							
A:
PF0088013=Nebulin=PD(37.9=10.6),PF0088013=Nebulin=WD(100=27.9),PF118973=DUF3417=PU(91.3=60.6),PF0088013=Nebulin=PU(55.2=15.4)

							
C2:
PF118973=DUF3417=PD(5.8=5.9),PF0088013=Nebulin=PD(37.9=16.2),PF0088013=Nebulin=PU(55.2=23.5)

						

					

				








    
Main Inclusion Isoform:
ENSMUSP00000047763





     
                   









    
Main Skipping Isoform:
NA





     
      









    
Other Inclusion Isoforms:
ENSMUSP00000028318, ENSMUSP00000074773
          









    
Other Skipping Isoforms:
NA
  



Associated events






Other assemblies


mm10




Conservation


Human
(hg38)
chr2:151650574-151650885 
HIGH PSI
HsaEX6015947
(NEB)
Human
(hg19)
chr2:152507088-152507399 
HIGH PSI
HsaEX6015947
(NEB)
Rat
(rn6)
chr3:37785764-37786075 
HIGH PSI
RnoEX6016804
(Neb)
Cow
(bosTau6)
chr2:44620304-44620615 
Chicken
(galGal4)
chr7:34759866-34760177 
HIGH PSI
GgaEX6043271
([1])
Chicken
(galGal3)
chr7:36886059-36886370 
HIGH PSI
GgaEX6043271
(Q9DEH4_CHICK)
Zebrafish
(danRer10)
chr9:23047525-23047836 
HIGH PSI
DreEX0049995
(neb)
Fruitfly
(dm6)
No conservation detected




Primers PCR

	

		

			
Suggestions for RT-PCR validation

			

				
F: 
ATCCTATAGACTTGGTTGGGAAGAGG

				
R: 
GTCACTCCTGTTTTTGGCATTTGT

				
Band lengths: 
310-622

			

		

	





	
Functional annotations
(Submit an annotation)

	


There are 0 annotated functions for this event 


		










GENOMIC CONTEXT[edit]












INCLUSION PATTERN[edit]










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