Special

HsaEX0020437 @ hg38

Exon Skipping

Gene
ENSG00000106976 | DNM1
Description
dynamin 1 [Source:HGNC Symbol;Acc:HGNC:2972]
Coordinates
chr9:128250725-128255244:+
Coord C1 exon
chr9:128250725-128250940
Coord A exon
chr9:128253101-128253137
Coord C2 exon
chr9:128254654-128255244
Length
37 bp
Sequences
Splice sites
3' ss Seq
GATTTCGTGCTGTCTTTCAGAAT
3' ss Score
9.63
5' ss Seq
ATGGTAGGT
5' ss Score
8.6
Exon sequences
Seq C1 exon
GTCGCCCACGTCCAGCCCCACGCCGCAGCGCCGAGCCCCCGCCGTGCCCCCAGCCCGGCCCGGGTCGCGGGGCCCTGCTCCTGGGCCTCCGCCTGCTGGGTCCGCCCTGGGGGGGGCGCCCCCCGTGCCCTCCAGGCCGGGGGCTTCCCCTGACCCTTTCGGCCCTCCCCCTCAGGTGCCCTCGCGCCCCAACCGCGCCCCGCCCGGGGTCCCCAG
Seq A exon
AATCACTATCAGTGACCCCTGAGGAGCGTCAGCCATG
Seq C2 exon
CCGATCGGGTCAGGCAAGTCCATCCCGTCCTGAGAGCCCCAGGCCCCCCTTCGACCTCTAAACAGATCCCTCCTCTTCTCGGAGACCTCCCTTTCCAAGCCTGCCTGGACGGCTGTTCTGTGACTTGACAGTGGCTCCCCCAGCCCCAAAGCCAGCCCCCTTCATCTGTGACTTAATCTGTTGTAGTGGTGAGCTGATACATTCAGGTGTGACCGTTGGTGAAAACTTGTGCCCCTTCTGTGGTATGCCCTTGCCCTGTTCTATAAATATCTATAAATACTCATATATATACACACCTACACATGGCCAACCGCCTCGCCTCTAGCGCTGGGAATCAGTCACTGTGCTATCCTTGTGGAGTCTTGTGGCCCAACTACCAGAGAACGCTGTCCCCCGACATCCCACTCCAAAGTGTGCCACCTCCAGTGAGCCTCCTTGTCATGCCCGGCCTGTGGACAGCCAGCCCCCGCCATCCCTCCCACCCCCTACCAAGCATGGGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000106976_CASSETTE5
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact





	

	
ORF disruption upon sequence inclusion





No structure available

		

			
Features


			

				
Disorder rate (Iupred):
  C1=1.000 A=1.000 C2=1.000
 
                        

				
Domain overlap (PFAM):

					





						

							
C1:
NO

							
A:
NO

							
C2:
NO

						

					

				








    
Main Inclusion Isoform:
ENSP00000345680





     
                   









    
Main Skipping Isoform:
ENSP00000362014





     
      









    
Other Inclusion Isoforms:
ENSP00000377219, ENSP00000419225, ENSP00000486770, ENSP00000487310
          









    
Other Skipping Isoforms:
ENSP00000420045, ENSP00000486437, ENSP00000486525, ENSP00000489096
  



Associated events






Other assemblies


hg19




Conservation


Mouse
(mm10)
chr2:32310451-32310487 
ALTERNATIVE
MmuEX0015287
(Dnm1)
Mouse
(mm9)
chr2:32165971-32166007 
ALTERNATIVE
MmuEX0015287
(Dnm1)
Rat
(rn6)
chr3:11340145-11340181 
ALTERNATIVE
RnoEX0029037
(Dnm1)
Cow
(bosTau6)
chr11:98875740-98875776 
ALTERNATIVE
BtaEX0011730
(DNM1)
Chicken
(galGal4)
chr17:5021838-5021874 
ALTERNATIVE
GgaEX0006670
(DNM1)
Chicken
(galGal3)
chr17:5654437-5654473 
ALTERNATIVE
GgaEX0006670
(E1BV15_CHICK)
Zebrafish
(danRer10)
chr5:1358592-1358628 
ALTERNATIVE
DreEX0027748
(dnm1a)
Fruitfly
(dm6)
No conservation detected




Primers PCR

	

		

			
Suggestions for RT-PCR validation

			

				
F: 
GGCTTCCCCTGACCCTTTCG

				
R: 
GCTCTCAGGACGGGATGGAC

				
Band lengths: 
112-149

			

		

	





	
Functional annotations
(Submit an annotation)

	


There are 1 annotated functions for this event 


PMID: 21689596
HsaEX0020437
Partially encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: competition binding, glutathione s tranferase tag, mutation analysis, pull down. ELM ID: ELMI002614; ELM sequence: VPRITIS; Overlap: PARTIAL_LEFT


		










GENOMIC CONTEXT[edit]












INCLUSION PATTERN[edit]






SPECIAL DATASETS
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development





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