Special

HsaEX6018373 @ hg38

Exon Skipping

Gene
ENSG00000115414 | FN1
Description
fibronectin 1 [Source:HGNC Symbol;Acc:HGNC:3778]
Coordinates
chr2:215383328-215384976:-
Coord C1 exon
chr2:215384860-215384976
Coord A exon
chr2:215384020-215384184
Coord C2 exon
chr2:215383328-215383483
Length
165 bp
Sequences
Splice sites
3' ss Seq
ACTAACCCTTTTTCATACAGGAG
3' ss Score
8.16
5' ss Seq
CAGGTACAA
5' ss Score
7.09
Exon sequences
Seq C1 exon
TTTCTGATGTTCCGAGGGACCTGGAAGTTGTTGCTGCGACCCCCACCAGCCTACTGATCAGCTGGGATGCTCCTGCTGTCACAGTGAGATATTACAGGATCACTTACGGAGAGACAG
Seq A exon
GAGGAAATAGCCCTGTCCAGGAGTTCACTGTGCCTGGGAGCAAGTCTACAGCTACCATCAGCGGCCTTAAACCTGGAGTTGATTATACCATCACTGTGTATGCTGTCACTGGCCGTGGAGACAGCCCCGCAAGCAGCAAGCCAATTTCCATTAATTACCGAACAG
Seq C2 exon
AAATTGACAAACCATCCCAGATGCAAGTGACCGATGTTCAGGACAACAGCATTAGTGTCAAGTGGCTGCCTTCAAGTTCCCCTGTTACTGGTTACAGAGTAACCACCACTCCCAAAAATGGACCAGGACCAACAAAAACTAAAACTGCAGGTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115414-'76-93,'76-89,79-93
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact





	

	
Alternative protein isoforms (Ref)





No structure available

		

			
Features


			

				
Disorder rate (Iupred):
  C1=0.075 A=0.598 C2=0.685
 
                        

				
Domain overlap (PFAM):

					





						

							
C1:
PF0004116=fn3=PU(45.1=92.5)

							
A:
PF0004116=fn3=PD(53.7=78.6)

							
C2:
PF0004116=fn3=PU(61.7=94.3)

						

					

				








    
Main Inclusion Isoform:
ENSP00000346839





     
                   









    
Main Skipping Isoform:
NA





     
      









    
Other Inclusion Isoforms:
ENSP00000323534, ENSP00000338200, ENSP00000348285, ENSP00000350534, ENSP00000352696, ENSP00000394423, ENSP00000399538, ENSP00000410422, ENSP00000415018, ENSP00000416139
          









    
Other Skipping Isoforms:
NA
  



Associated events






Other assemblies


hg19




Conservation


Mouse
(mm10)
chr1:71606703-71606867 
MmuEX6025168
(Fn1)
Mouse
(mm9)
chr1:71653277-71653441 
HIGH PSI
MmuEX6025168
(Fn1)
Rat
(rn6)
chr9:78921564-78921728 
HIGH PSI
RnoEX6040259
(Fn1)
Cow
(bosTau6)
chr2:103901692-103901856 
HIGH PSI
BtaEX6011348
(FN1)
Chicken
(galGal4)
chr7:4348697-4348861 
HIGH PSI
GgaEX1066078
(fn1)
Chicken
(galGal3)
chr7:4377102-4377266 
HIGH PSI
GgaEX1066078
(FN1)
Zebrafish
(danRer10)
chr9:15406655-15406674 
Fruitfly
(dm6)
No conservation detected




Primers PCR

	

		

			
Suggestions for RT-PCR validation

			

				
F: 
TCTGATGTTCCGAGGGACCTG

				
R: 
TGGTCCTGGTCCATTTTTGGG

				
Band lengths: 
246-411

			

		

	





	
Functional annotations
(Submit an annotation)

	


There are 4 annotated functions for this event 


PMID: 6325925
HsaEX6018373
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: cross linking study, overlapping binding peptide, x-ray crystallography. ELM ID: ELMI000104; ELM sequence: RGD; Overlap: FULL


PMID: 19738201
HsaEX6018373
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: cross linking study, overlapping binding peptide, x-ray crystallography. ELM ID: ELMI000104; ELM sequence: RGD; Overlap: FULL


PMID: 22451694
HsaEX6018373
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: cross linking study, overlapping binding peptide, x-ray crystallography. ELM ID: ELMI000104; ELM sequence: RGD; Overlap: FULL


PMID: 9533887
MmuEX6025168
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: structure based prediction. ELM ID: ELMI000105; ELM sequence: RGD; Overlap: FULL


		










GENOMIC CONTEXT[edit]












INCLUSION PATTERN[edit]






SPECIAL DATASETS
  • Autistic and control brains





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