Special

HsaEX6021732 @ hg19

Exon Skipping

Gene
ENSG00000063015 | SEZ6
Description
seizure related 6 homolog (mouse) [Source:HGNC Symbol;Acc:15955]
Coordinates
chr17:27284366-27286239:-
Coord C1 exon
chr17:27286043-27286239
Coord A exon
chr17:27284965-27285159
Coord C2 exon
chr17:27284366-27284557
Length
195 bp
Sequences
Splice sites
3' ss Seq
TTGTGCCTCTGTGCCCCCAGAGG
3' ss Score
10.01
5' ss Seq
GGGGTGAGT
5' ss Score
7.93
Exon sequences
Seq C1 exon
GCTGCGCATAGGCCCTGGTGATGTGCTTACCTTCTATGATGGGGATGACCTGACGGCCCGGGTTCTGGGCCAGTACTCAGGGCCCCGTAGCCACTTCAAGCTCTTTACCTCCATGGCTGATGTCACCATTCAGTTCCAGTCGGACCCCGGGACCTCAGTGCTGGGCTACCAGCAGGGCTTCGTCATCCACTTCTTTG
Seq A exon
AGGTGCCCCGCAATGACACATGTCCGGAGCTGCCTGAGATCCCCAATGGCTGGAAGAGCCCATCGCAGCCTGAGCTAGTGCACGGCACCGTGGTCACTTACCAGTGCTACCCTGGCTACCAGGTAGTGGGATCCAGTGTCCTCATGTGCCAGTGGGACCTAACTTGGAGTGAGGACCTGCCCTCATGCCAGAGGG
Seq C2 exon
TGACTTCCTGCCACGATCCTGGAGATGTGGAGCACAGCCGACGCCTCATATCCAGCCCCAAGTTTCCCGTGGGGGCCACCGTGCAATATATCTGTGACCAGGGTTTTGTGCTGATGGGCAGCTCCATCCTCACCTGCCATGATCGCCAGGCTGGCAGCCCCAAGTGGAGTGACCGGGCCCCTAAATGTCTCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000063015-'11-11,'11-10,12-11=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact





	

	
Alternative protein isoforms (Ref)





No structure available

		

			
Features


			

				
Disorder rate (Iupred):
  C1=0.000 A=0.121 C2=0.015
 
                        

				
Domain overlap (PFAM):

					





						

							
C1:
PF0043115=CUB=PD(58.7=95.5)

							
A:
PF0008415=Sushi=WD(100=84.8)

							
C2:
PF0008415=Sushi=WD(100=92.3)

						

					

				








    
Main Inclusion Isoform:
ENSP00000312942





     
                   









    
Main Skipping Isoform:
NA





     
      









    
Other Inclusion Isoforms:
ENSP00000353440, ENSP00000403784, ENSP00000437650
          









    
Other Skipping Isoforms:
NA
  



Associated events






Other assemblies


hg38




Conservation


Mouse
(mm10)
chr11:77975146-77975340 
HIGH PSI
MmuEX6087801
(Sez6)
Mouse
(mm9)
chr11:77788648-77788842 
HIGH PSI
MmuEX6087801
(Sez6)
Rat
(rn6)
chr10:64869272-64869466 
HIGH PSI
RnoEX6048635
(Sez6)
Cow
(bosTau6)
chr19:20882059-20882253 
HIGH PSI
BtaEX6085569
(SEZ6)
Chicken
(galGal4)
chr19:5912990-5913184 
HIGH PSI
GgaEX7009975
(SEZ6)
Chicken
(galGal3)
chr15:7352528-7352722 
HIGH PSI
GgaEX6014010
(SEZ6L)
Zebrafish
(danRer10)
chr15:24590516-24590710 
HIGH PSI
DreEX0065580
(sez6b)
Fruitfly
(dm6)
No conservation detected




Primers PCR

	

		

			
Suggestions for RT-PCR validation

			

				
F: 
CCGTAGCCACTTCAAGCTCTT

				
R: 
ATCATGGCAGGTGAGGATGGA

				
Band lengths: 
256-451

			

		

	





	
Functional annotations
(Submit an annotation)

	


There are 0 annotated functions for this event 


		










GENOMIC CONTEXT[edit]












INCLUSION PATTERN[edit]






SPECIAL DATASETS
  • Autistic and control brains






Retrieved from "https://vastdb.crg.eu/wiki/Special:VastDB"