Special

HsaEX0042372 @ hg38

Exon Skipping

Gene
ENSG00000078114 | NEBL
Description
nebulette [Source:HGNC Symbol;Acc:HGNC:16932]
Coordinates
chr10:20812769-20888207:-
Coord C1 exon
chr10:20888097-20888207
Coord A exon
chr10:20880794-20880904
Coord C2 exon
chr10:20812769-20812940
Length
111 bp
Sequences
Splice sites
3' ss Seq
AAATTATTTGTGTTTTTCAGGTG
3' ss Score
10.61
5' ss Seq
AATGTAAGG
5' ss Score
6.17
Exon sequences
Seq C1 exon
GCAAAATACAAAGGCACCATTAAAGCTGACCTTTCTAATTCTCTTTATAAGCGGATGCCAGCCACAATTGACAGTGTTTTTGCAGGAGAAGTTACACAGCTCCAGAGTGAG
Seq A exon
GTGGCCTACAAGCAGAAACATGATGCTGCCAAAGGATTCTCAGATTATGCCCACATGAAGGAGCCCCCTGAGGTTAAACATGCCATGGAGGTCAATAAACACCAGAGTAAT
Seq C2 exon
GTAAAATACCATGAAGATTTTGAAAAAACAAAGGGGAGAGGCTTTACTCCCGTCGTGGACGATCCTGTGACAGAGAGAGTGAGGAAGAACACCCAGGTGGTCAGCGATGCTGCCTATAAAGGGGTCCACCCTCACATCGTGGAGATGGACAGGAGACCTGGAATCATTGTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000078114_MULTIEX1-21/44=19-42
Average complexity
C3
Mappability confidence:
88%=95=93%
Protein Impact





	

	
Alternative protein isoforms (No Ref)





No structure available

		

			
Features


			

				
Disorder rate (Iupred):
  C1=0.000 A=0.555 C2=0.455
 
                        

				
Domain overlap (PFAM):

					





						

							
C1:
PF0088013=Nebulin=PU(53.6=40.5)

							
A:
PF0088013=Nebulin=PD(39.3=29.7),PF0088013=Nebulin=PU(59.3=43.2)

							
C2:
PF0088013=Nebulin=PD(37.9=19.0),PF0088013=Nebulin=WD(100=41.4)

						

					

				








    
Main Inclusion Isoform:
ENSP00000396512





     
                   









    
Main Skipping Isoform:
ENST00000377122fB20954





     
      









    
Other Inclusion Isoforms:
ENSP00000366326
          









    
Other Skipping Isoforms:
NA
  



Associated events







Other assemblies


hg19




Conservation


Mouse
(mm10)
chr2:17443715-17443825 
ALTERNATIVE
MmuEX0031365
(Nebl)
Mouse
(mm9)
chr2:17365342-17365452 
ALTERNATIVE
MmuEX0031365
(Nebl)
Rat
(rn6)
chr17:84230183-84230293 
ALTERNATIVE
RnoEX0059025
(Nebl)
Cow
(bosTau6)
chr13:22479428-22479538 
ALTERNATIVE
BtaEX0024207
(NEBL)
Chicken
(galGal4)
chr2:18179896-18180006 
ALTERNATIVE
GgaEX0028346
(lasp-2)
Chicken
(galGal3)
chr2:18215593-18215703 
ALTERNATIVE
GgaEX0028346
(Q766Y2_CHICK)
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected




Primers PCR

	

		

			
Suggestions for RT-PCR validation

			

				
F: 
AGGCACCATTAAAGCTGACCT

				
R: 
GTCTCCTGTCCATCTCCACGA

				
Band lengths: 
257-368

			

		

	





	
Functional annotations
(Submit an annotation)

	


There are 0 annotated functions for this event 


		










GENOMIC CONTEXT[edit]












INCLUSION PATTERN[edit]






SPECIAL DATASETS
  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development





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