Special

HsaEX6018355 @ hg38

Exon Skipping

Gene
ENSG00000115414 | FN1
Description
fibronectin 1 [Source:HGNC Symbol;Acc:HGNC:3778]
Coordinates
chr2:215420673-215423526:-
Coord C1 exon
chr2:215423350-215423526
Coord A exon
chr2:215422091-215422243
Coord C2 exon
chr2:215420673-215420801
Length
153 bp
Sequences
Splice sites
3' ss Seq
TCTTATCCATTTCCAAACAGCCC
3' ss Score
8.37
5' ss Seq
GAGGTATGC
5' ss Score
9.12
Exon sequences
Seq C1 exon
TTTTGGTTCAGACTCGAGGAGGAAATTCCAATGGTGCCTTGTGCCACTTCCCCTTCCTATACAACAACCACAATTACACTGATTGCACTTCTGAGGGCAGAAGAGACAACATGAAGTGGTGTGGGACCACACAGAACTATGATGCCGACCAGAAGTTTGGGTTCTGCCCCATGGCTG
Seq A exon
CCCACGAGGAAATCTGCACAACCAATGAAGGGGTCATGTACCGCATTGGAGATCAGTGGGATAAGCAGCATGACATGGGTCACATGATGAGGTGCACGTGTGTTGGGAATGGTCGTGGGGAATGGACATGCATTGCCTACTCGCAGCTTCGAG
Seq C2 exon
ATCAGTGCATTGTTGATGACATCACTTACAATGTGAACGACACATTCCACAAGCGTCATGAAGAGGGGCACATGCTGAACTGTACATGCTTCGGTCAGGGTCGGGGCAGGTGGAAGTGTGATCCCGTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115414-'21-33,'21-31,24-33
Average complexity
S
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:
PF0004014=fn2=WD(100=70.0)

							
A:
PF0003913=fn1=WD(100=75.0)

							
C2:
PF0003913=fn1=WD(100=86.4)

						

					

				








    
Main Inclusion Isoform:
ENSP00000346839





     
                   









    
Main Skipping Isoform:
NA





     
      









    
Other Inclusion Isoforms:
ENSP00000323534, ENSP00000338200, ENSP00000348285, ENSP00000350534, ENSP00000352696, ENSP00000394423, ENSP00000398907, ENSP00000399538, ENSP00000410422, ENSP00000415018
          









    
Other Skipping Isoforms:
NA
  



Associated events






Other assemblies


hg19




Conservation


Mouse
(mm10)
chr1:71640292-71640444 
HIGH PSI
MmuEX6025149
(Fn1)
Mouse
(mm9)
chr1:71686866-71687018 
HIGH PSI
MmuEX6025149
(Fn1)
Rat
(rn6)
chr9:78955972-78956124 
HIGH PSI
RnoEX6040250
(Fn1)
Cow
(bosTau6)
chr2:103935924-103936076 
HIGH PSI
BtaEX6011330
(FN1)
Chicken
(galGal4)
chr7:4372024-4372176 
HIGH PSI
GgaEX1066055
(fn1)
Chicken
(galGal3)
chr7:4400429-4400581 
HIGH PSI
GgaEX1066055
(FN1)
Zebrafish
(danRer10)
chr1:4835838-4835990 
HIGH PSI
DreEX6029949
(fn1b)
Fruitfly
(dm6)
No conservation detected




Primers PCR

	

		

			
Suggestions for RT-PCR validation

			

				
F: 
AATGGTGCCTTGTGCCACTTC

				
R: 
CCCTGACCGAAGCATGTACAG

				
Band lengths: 
248-401

			

		

	





	
Functional annotations
(Submit an annotation)

	


There are 5 annotated functions for this event 


PMID: 1532572
HsaEX6018355
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: affinity chromatography technology, coimmunoprecipitation, polyclonal antibody, western blot. ELM ID: ELMI002208; ELM sequence: NGR; Overlap: FULL


PMID: 1694173
HsaEX6018355
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: affinity chromatography technology, coimmunoprecipitation, polyclonal antibody, western blot. ELM ID: ELMI002208; ELM sequence: NGR; Overlap: FULL


PMID: 18480047
HsaEX6018355
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: nuclear magnetic resonance. ELM ID: ELMI002208; ELM sequence: NGR; Overlap: FULL


PMID: 17591922
MmuEX6025149
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: nuclear magnetic resonance, sequence based prediction. ELM ID: ELMI002211; ELM sequence: NGR; Overlap: FULL


PMID: 18480047
MmuEX6025149
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: nuclear magnetic resonance. ELM ID: ELMI002211; ELM sequence: NGR; Overlap: FULL


		










GENOMIC CONTEXT[edit]












INCLUSION PATTERN[edit]






SPECIAL DATASETS
  • Autistic and control brains





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