Special

HsaEX0044357 @ hg19

Exon Skipping

Gene
ENSG00000126883 | NUP214
Description
nucleoporin 214kDa [Source:HGNC Symbol;Acc:8064]
Coordinates
chr9:134067595-134074402:+
Coord C1 exon
chr9:134067595-134067679
Coord A exon
chr9:134070620-134070681
Coord C2 exon
chr9:134072603-134074402
Length
62 bp
Sequences
Splice sites
3' ss Seq
TCTCTTTTTCCACTTGTTAGGAC
3' ss Score
6.99
5' ss Seq
AAGGTACAG
5' ss Score
8.04
Exon sequences
Seq C1 exon
GGACAGCCAAGATAGAAACAGCTGTGACTTCAACCCCATCTGCTTCTGGGCAGTTCAGCAAGCCTTTCTCATTTTCTCCATCAGG
Seq A exon
GACTGGCTTTAATTTTGGGATAATCACACCAACACCGTCTTCTAATTTCACTGCTGCACAAG
Seq C2 exon
GGGCAACACCCTCCACTAAAGAGTCAAGCCAGCCGGACGCATTCTCATCTGGTGGGGGAAGCAAACCTTCTTATGAGGCCATTCCTGAAAGCTCACCTCCCTCAGGAATCACATCCGCATCAAACACCACCCCAGGAGAACCTGCCGCATCTAGCAGCAGACCTGTGGCACCTTCTGGAACTGCTCTTTCCACCACCTCTAGTAAGCTGGAAACCCCACCGTCCAAGCTGGGAGAGCTTCTGTTTCCAAGTTCTTTGGCTGGAGAGACTCTGGGAAGTTTTTCAGGACTGCGGGTTGGCCAAGCAGATGATTCTACAAAACCAACCAATAAGGCTTCATCCACAAGCCTAACTAGTACCCAGCCAACCAAGACGTCAGGCGTGCCCTCAGGGTTTAATTTTACTGCCCCCCCGGTGTTAGGGAAGCACACGGAGCCCCCTGTGACATCCTCTGCAACCACCACCTCAGTAGCACCACCAGCAGCCACCAGCACTTCCTCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000126883_MULTIEX2-5/5=4-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact





	

	
ORF disruption upon sequence exclusion





No structure available

		

			
Features


			

				
Disorder rate (Iupred):
  C1=0.793 A=0.818 C2=0.696
 
                        

				
Domain overlap (PFAM):

					





						

							
C1:
NO

							
A:
NO

							
C2:
NO

						

					

				








    
Main Inclusion Isoform:
ENSP00000405014





     
                   









    
Main Skipping Isoform:
ENSP00000435364





     
      









    
Other Inclusion Isoforms:
ENSP00000352400, ENSP00000396576, ENSP00000416934, ENSP00000436793
          









    
Other Skipping Isoforms:
NA
  



Associated events







Other assemblies


hg38




Conservation


Mouse
(mm10)
chr2:32031250-32031308 
HIGH PSI
MmuEX1019006
(Nup214)
Mouse
(mm9)
chr2:31886770-31886828 
Rat
(rn6)
chr3:11043424-11043482 
HIGH PSI
RnoEX0061723
(Nup214)
Cow
(bosTau6)
chr11:101403749-101403810 
HIGH PSI
BtaEX0025214
(NUP214)
Chicken
(galGal4)
chr17:6117005-6117078 
HIGH PSI
GgaEX1040921
(NUP214)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected




Primers PCR

	

		

			
Suggestions for RT-PCR validation

			

				
F: 
GGCAGTTCAGCAAGCCTTTCT

				
R: 
GATTCCTGAGGGAGGTGAGCT

				
Band lengths: 
147-209

			

		

	





	
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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