Special

HsaEX0042368 @ hg38

Exon Skipping

Gene
ENSG00000078114 | NEBL
Description
nebulette [Source:HGNC Symbol;Acc:HGNC:16932]
Coordinates
chr10:20812769-20831306:-
Coord C1 exon
chr10:20831196-20831306
Coord A exon
chr10:20828530-20828634
Coord C2 exon
chr10:20812769-20812940
Length
105 bp
Sequences
Splice sites
3' ss Seq
TTAACTGTTTATGTTTTTAGAGA
3' ss Score
7.86
5' ss Seq
GCGGTGAGT
5' ss Score
10.49
Exon sequences
Seq C1 exon
AAACAATACAAGAAGGACTTAGAAAATGAAATTAAAGGGAAAGGAATGCAAGTGAGCATGGATATCCCAGATATCCTTCGAGCCAAGAGGACATCTGAAATCTATAGCCAG
Seq A exon
AGAAAGTATAAAGATGAAGCAGAGAAGATGCTTTCTAACTATTCTACCATAGCAGATACTCCTGAAATTCAGAGAATTAAGACAACTCAACAAAACATTAGTGCG
Seq C2 exon
GTAAAATACCATGAAGATTTTGAAAAAACAAAGGGGAGAGGCTTTACTCCCGTCGTGGACGATCCTGTGACAGAGAGAGTGAGGAAGAACACCCAGGTGGTCAGCGATGCTGCCTATAAAGGGGTCCACCCTCACATCGTGGAGATGGACAGGAGACCTGGAATCATTGTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000078114_MULTIEX1-34/44=33-42
Average complexity
C3
Mappability confidence:
81%=97=85%
Protein Impact





	

	
Alternative protein isoforms (No Ref)





No structure available

		

			
Features


			

				
Disorder rate (Iupred):
  C1=0.541 A=0.514 C2=0.455
 
                        

				
Domain overlap (PFAM):

					





						

							
C1:
PF0088013=Nebulin=PD(37.9=29.7),PF0088013=Nebulin=PU(55.2=43.2)

							
A:
PF0088013=Nebulin=PD(37.9=31.4),PF0088013=Nebulin=PU(64.0=45.7)

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

						

					

				








    
Main Inclusion Isoform:
ENSP00000366326





     
                   









    
Main Skipping Isoform:
ENST00000417816fB4616





     
      









    
Other Inclusion Isoforms:
NA
          









    
Other Skipping Isoforms:
NA
  



Associated events







Other assemblies


hg19




Conservation


Mouse
(mm10)
chr2:17390812-17390916 
ALTERNATIVE
MmuEX0031356
(Nebl)
Mouse
(mm9)
chr2:17312439-17312543 
ALTERNATIVE
MmuEX0031356
(Nebl)
Rat
(rn6)
chr17:84179961-84180065 
ALTERNATIVE
RnoEX0059039
(Nebl)
Cow
(bosTau6)
chr13:22427224-22427328 
ALTERNATIVE
BtaEX0024201
(NEBL)
Chicken
(galGal4)
chr2:18212133-18212237 
ALTERNATIVE
GgaEX0028354
(lasp-2)
Chicken
(galGal3)
chr2:18247831-18247935 
ALTERNATIVE
GgaEX0028354
(Q766Y2_CHICK)
Zebrafish
(danRer10)
chr9:23007696-23007800 
HIGH PSI
DreEX0050002
(neb)
Fruitfly
(dm6)
No conservation detected




Primers PCR

	

		

			
Suggestions for RT-PCR validation

			

				
F: 
AGGGAAAGGAATGCAAGTGAGC

				
R: 
CAACAATGATTCCAGGTCTCCT

				
Band lengths: 
248-353

			

		

	





	
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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