Special

HsaEX6018353 @ hg38

Exon Skipping

Gene
ENSG00000115414 | FN1
Description
fibronectin 1 [Source:HGNC Symbol;Acc:HGNC:3778]
Coordinates
chr2:215423350-215425285:-
Coord C1 exon
chr2:215425094-215425285
Coord A exon
chr2:215424146-215424325
Coord C2 exon
chr2:215423350-215423526
Length
180 bp
Sequences
Splice sites
3' ss Seq
TCTTTTGATTATGATTGTAGCTG
3' ss Score
4.2
5' ss Seq
CTGGTGAGT
5' ss Score
10.1
Exon sequences
Seq C1 exon
GATCTGGCCCCTTCACCGATGTTCGTGCAGCTGTTTACCAACCGCAGCCTCACCCCCAGCCTCCTCCCTATGGCCACTGTGTCACAGACAGTGGTGTGGTCTACTCTGTGGGGATGCAGTGGCTGAAGACACAAGGAAATAAGCAAATGCTTTGCACGTGCCTGGGCAACGGAGTCAGCTGCCAAGAGACAG
Seq A exon
CTGTAACCCAGACTTACGGTGGCAACTCAAATGGAGAGCCATGTGTCTTACCATTCACCTACAATGGCAGGACGTTCTACTCCTGCACCACAGAAGGGCGACAGGACGGACATCTTTGGTGCAGCACAACTTCGAATTATGAGCAGGACCAGAAATACTCTTTCTGCACAGACCACACTG
Seq C2 exon
TTTTGGTTCAGACTCGAGGAGGAAATTCCAATGGTGCCTTGTGCCACTTCCCCTTCCTATACAACAACCACAATTACACTGATTGCACTTCTGAGGGCAGAAGAGACAACATGAAGTGGTGTGGGACCACACAGAACTATGATGCCGACCAGAAGTTTGGGTTCTGCCCCATGGCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115414-'19-25,'19-21,20-25
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact





	

	
Alternative protein isoforms (Ref)





No structure available

		

			
Features


			

				
Disorder rate (Iupred):
  C1=0.246 A=0.000 C2=0.000
 
                        

				
Domain overlap (PFAM):

					





						

							
C1:
PF0003913=fn1=WD(100=53.8)

							
A:
PF0004014=fn2=WD(100=68.9)

							
C2:
PF0004014=fn2=WD(100=70.0)

						

					

				








    
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)
chr1:71641952-71642131 
HIGH PSI
MmuEX6025147
(Fn1)
Mouse
(mm9)
chr1:71688526-71688705 
HIGH PSI
MmuEX6025147
(Fn1)
Rat
(rn6)
chr9:78957883-78958062 
RnoEX0036494
(Fn1)
Cow
(bosTau6)
chr2:103938423-103938602 
HIGH PSI
BtaEX6011328
(FN1)
Chicken
(galGal4)
chr7:4374637-4374816 
HIGH PSI
GgaEX1066080
(fn1)
Chicken
(galGal3)
chr7:4403042-4403221 
HIGH PSI
GgaEX1066080
(FN1)
Zebrafish
(danRer10)
chr1:4838594-4838776 
HIGH PSI
DreEX6029947
(fn1b)
Fruitfly
(dm6)
No conservation detected




Primers PCR

	

		

			
Suggestions for RT-PCR validation

			

				
F: 
GGTCTACTCTGTGGGGATGCA

				
R: 
CCAAACTTCTGGTCGGCATCA

				
Band lengths: 
255-435

			

		

	





	
Functional annotations
(Submit an annotation)

	


There are 2 annotated functions for this event 


PMID: 1532572
HsaEX6018353
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: affinity chromatography technology, coimmunoprecipitation, polyclonal antibody, western blot. ELM ID: ELMI002207; ELM sequence: NGR; Overlap: FULL


PMID: 1694173
HsaEX6018353
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: affinity chromatography technology, coimmunoprecipitation, polyclonal antibody, western blot. ELM ID: ELMI002207; ELM sequence: NGR; Overlap: FULL


		










GENOMIC CONTEXT[edit]












INCLUSION PATTERN[edit]






SPECIAL DATASETS
  • Autistic and control brains





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