Special

HsaEX1025437 @ hg38

Exon Skipping

Gene
ENSG00000078114 | NEBL
Description
nebulette [Source:HGNC Symbol;Acc:HGNC:16932]
Coordinates
chr10:20812769-21020201:-
Coord C1 exon
chr10:21020117-21020201
Coord A exon
chr10:20961672-20961779
Coord C2 exon
chr10:20812769-20812940
Length
108 bp
Sequences
Splice sites
3' ss Seq
CTTTTCCCCCTTCTTGTTAGGTC
3' ss Score
9.95
5' ss Seq
AATGTAGGT
5' ss Score
5.12
Exon sequences
Seq C1 exon
ACACTACCCGAAGCAGTCCTTCACCACGGTGGCAGATACACCTGAAAATCTTCGCCTGAAGCAGCAAAGTGAATTGCAGAGTCAG
Seq A exon
GTCAAGTACAAAAGAGATTTTGAAGAAAGCAAAGGGAGGGGCTTCAGCATCGTCACGGACACTCCTGAGCTACAGAGACTGAAGAGGACTCAGGAGCAAATCAGTAAT
Seq C2 exon
GTAAAATACCATGAAGATTTTGAAAAAACAAAGGGGAGAGGCTTTACTCCCGTCGTGGACGATCCTGTGACAGAGAGAGTGAGGAAGAACACCCAGGTGGTCAGCGATGCTGCCTATAAAGGGGTCCACCCTCACATCGTGGAGATGGACAGGAGACCTGGAATCATTGTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000078114_MULTIEX1-6/44=5-42
Average complexity
C2
Mappability confidence:
95%=100=96%
Protein Impact





	

	
Alternative protein isoforms (No Ref)





No structure available

		

			
Features


			

				
Disorder rate (Iupred):
  C1=0.260 A=0.283 C2=0.455
 
                        

				
Domain overlap (PFAM):

					





						

							
C1:
PF0041217=LIM=PD(10.5=20.7),PF047658=DUF616=FE(22.8=100),PF0088013=Nebulin=PU(55.2=55.2)

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

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

						

					

				








    
Main Inclusion Isoform:
ENSP00000393896





     
                   









    
Main Skipping Isoform:
ENSP00000366326





     
      









    
Other Inclusion Isoforms:
NA
          









    
Other Skipping Isoforms:
NA
  



Associated events







Conservation


Mouse
(mm10)
chr2:17529910-17530017 
Mouse
(mm9)
No conservation detected
Rat
(rn6)
chr17:84299732-84299839 
Cow
(bosTau6)
chr19:40114701-40114808 
HIGH PSI
BtaEX6088260
(LASP1)
Chicken
(galGal4)
chr2:18121785-18121892 
HIGH PSI
GgaEX0028344
(lasp-2)
Chicken
(galGal3)
chr2:18156032-18156139 
HIGH PSI
GgaEX0028344
(Q766Y2_CHICK)
Zebrafish
(danRer10)
chr2:21422953-21423060 
HIGH PSI
DreEX6026559
(nebl)
Fruitfly
(dm6)
No conservation detected




Primers PCR

	

		

			
Suggestions for RT-PCR validation

			

				
F: 
ACACTACCCGAAGCAGTCCTT

				
R: 
GTCTCCTGTCCATCTCCACGA

				
Band lengths: 
242-350

			

		

	





	
Functional annotations
(Submit an annotation)

	


There are 0 annotated functions for this event 


		










GENOMIC CONTEXT[edit]












INCLUSION PATTERN[edit]






SPECIAL DATASETS
  • Autistic and control brains





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