Special

HsaEX0025109 @ hg38

Exon Skipping

Gene
ENSG00000142449 | FBN3
Description
fibrillin 3 [Source:HGNC Symbol;Acc:HGNC:18794]
Coordinates
chr19:8144877-8146225:-
Coord C1 exon
chr19:8146127-8146225
Coord A exon
chr19:8145843-8145938
Coord C2 exon
chr19:8144877-8144972
Length
96 bp
Sequences
Splice sites
3' ss Seq
TCCTGCCTTCCTGTCCCCAGGGT
3' ss Score
11.68
5' ss Seq
AGCGTGAGT
5' ss Score
8.2
Exon sequences
Seq C1 exon
CCATCTGTAGGCGCGCCTGCGGTGAAGGCTTCTGCTCCCAGCCCAACCTGTGCACCTGTGCGGATGGGACGCTGGCTCCCAGCTGCGGGGTGAGCCGAG
Seq A exon
GGTCAGGGTGCAGTGTGAGCTGTATGAATGGGGGCACCTGCCGGGGGGCGTCCTGTCTGTGTCAGAAGGGCTACACAGGCACCGTGTGTGGGCAGC
Seq C2 exon
CCATCTGTGACCGCGGCTGCCACAATGGGGGTCGCTGCATTGGGCCCAACCGCTGCGCCTGTGTGTATGGCTTCATGGGACCTCAATGTGAGAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000142449_MULTIEX1-2/4=1-3
Average complexity
C1
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=0.000
 
                        

				
Domain overlap (PFAM):

					





						

							
C1:
NO

							
A:
NO

							
C2:
NO

						

					

				








    
Main Inclusion Isoform:
ENSP00000270509





     
                   









    
Main Skipping Isoform:
NA





     
      









    
Other Inclusion Isoforms:
ENSP00000470498, ENSP00000472324
          









    
Other Skipping Isoforms:
NA
  



Associated events







Other assemblies


hg19




Conservation


Mouse
(mm10)
chr8:4400722-4401158 
Mouse
(mm9)
No conservation detected
Rat
(rn6)
chr3:117728509-117728604 
HIGH PSI
RnoEX6018851
(Fbn1)
Cow
(bosTau6)
chr7:18073073-18073168 
ALTERNATIVE
BtaEX0014236
(FBN3)
Chicken
(galGal4)
chr28:303207-303302 
HIGH PSI
GgaEX6027649
(FBN3)
Chicken
(galGal3)
chr28:274957-275052 
HIGH PSI
GgaEX6027649
(Q804J3_CHICK)
Zebrafish
(danRer10)
chr10:16501453-16501548 
HIGH PSI
DreEX0032243
(fbn2a)
Fruitfly
(dm6)
No conservation detected




Primers PCR

	

		

			
Suggestions for RT-PCR validation

			

				
F: 
GTGAAGGCTTCTGCTCCCAG

				
R: 
ACATTGAGGTCCCATGAAGCC

				
Band lengths: 
167-263

			

		

	





	
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)
  • Autistic and control brains
  • Pre-implantation embryo development





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