Special

HsaEX0045711 @ hg38

Exon Skipping

Gene
ENSG00000007372 | PAX6
Description
paired box 6 [Source:HGNC Symbol;Acc:HGNC:8620]
Coordinates
chr11:31784792-31793553:-
Coord C1 exon
chr11:31793438-31793553
Coord A exon
chr11:31790710-31790860
Coord C2 exon
chr11:31784792-31790019
Length
151 bp
Sequences
Splice sites
3' ss Seq
GTTTGCCTCTCTCCTCACAGCCC
3' ss Score
11.45
5' ss Seq
CAGGTGAGC
5' ss Score
9.6
Exon sequences
Seq C1 exon
TTTCCTCCTTCACATCTGGCTCCATGTTGGGCCGAACAGACACAGCCCTCACAAACACCTACAGCGCTCTGCCGCCTATGCCCAGCTTCACCATGGCAAATAACCTGCCTATGCAA
Seq A exon
CCCCCAGTCCCCAGCCAGACCTCCTCATACTCCTGCATGCTGCCCACCAGCCCTTCGGTGAATGGGCGGAGTTATGATACCTACACCCCCCCACATATGCAGACACACATGAACAGTCAGCCAATGGGCACCTCGGGCACCACTTCAACAG
Seq C2 exon
GACTCATTTCCCCTGGTGTGTCAGTTCCAGTTCAAGTTCCCGGAAGTGAACCTGATATGTCTCAATACTGGCCAAGATTACAGTAAAAAAAAAAAAAAAAAAAAAAAGGAAAGGAAATATTGTGTTAATTCAGTCAGTGACTATGGGGACACAACAGTTGAGCTTTCAGGAAAGAAAGAAAAATGGCTGTTAGAGCCGCTTCAGTTCTACAATTGTGTCCTGTATTGTACCACTGGGGAAGGAATGGACTTGAAACAAGGACCTTTGTATACAGAAGGCACGATATCAGTTGGAACAAATCTTCATTTTGGTATCCAAACTTTTATTCATTTTGGTGTATTATTTGTAAATGGGCATTTGTATGTTATAATGAAAAAAAGAACAATGTAGACTGGATGGATGTTTGATCTGTGTTGGTCATGAAGTTGTTTTTTTTTTTTTTAAAAAGAAAACCATGATCAACAAGCTTTGCCACGAATTTAAGAGTTTTATCAAGATAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000007372_MULTIEX2-2/3=1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact





	

	
Alternative protein isoforms (No Ref, Alt. Stop)





No structure available

		

			
Features


			

				
Disorder rate (disopred):
  C1=1.000 A=1.000 C2=0.838
 
                        

				
Domain overlap (PFAM):

					





						

							
C1:
NO

							
A:
NO

							
C2:
NO

						

					

				








    
Main Inclusion Isoform:
ENSP00000368401





     
                   









    
Main Skipping Isoform:
ENSP00000491948





     
      









    
Other Inclusion Isoforms:
ENSP00000241001, ENSP00000368403, ENSP00000368406, ENSP00000368410, ENSP00000368418, ENSP00000368424, ENSP00000368427, ENSP00000388132, ENSP00000404100, ENSP00000404356, ENSP00000431585, ENSP00000480026, ENSP00000490963, ENSP00000490971, ENSP00000491065, ENSP00000491210, ENSP00000491214, ENSP00000491229, ENSP00000491267, ENSP00000491280, ENSP00000491295, ENSP00000491324, ENSP00000491365, ENSP00000491517, ENSP00000491779, ENSP00000491862, ENSP00000491872, ENSP00000491904, ENSP00000491944, ENSP00000492024, ENSP00000492081, ENSP00000492166, ENSP00000492181, ENSP00000492205, ENSP00000492296, ENSP00000492315, ENSP00000492437, ENSP00000492476, ENSP00000492587, ENSP00000492658, ENSP00000492756, ENSP00000492769, ENSP00000492802, ENSP00000492808, ENSP00000492822
          









    
Other Skipping Isoforms:
ENSP00000492316, ENSP00000492397
  



Associated events






Other assemblies


hg19




Conservation


Mouse
(mm10)
chr2:105695306-105695456 
HIGH PSI
MmuEX0033800
(Pax6)
Mouse
(mm9)
chr2:105535463-105535613 
HIGH PSI
MmuEX0033800
(Pax6)
Rat
(rn6)
chr3:95726732-95726882 
HIGH PSI
RnoEX0063602
(Pax6)
Cow
(bosTau6)
chr15:63357648-63357798 
HIGH PSI
BtaEX6060190
(PAX6)
Chicken
(galGal4)
chr5:5219658-5219808 
HIGH PSI
GgaEX0018235
(Pax-6)
Chicken
(galGal3)
chr5:5256571-5256721 
HIGH PSI
GgaEX0018235
(PAX6_CHICK)
Zebrafish
(danRer10)
chr25:14935057-14935198 
HIGH PSI
DreEX0053710
(pax6a)
Fruitfly
(dm6)
No conservation detected




Primers PCR

	

		

			
Suggestions for RT-PCR validation

			

				
F: 
AGACACAGCCCTCACAAACAC

				
R: 
GCTCAACTGTTGTGTCCCCAT

				
Band lengths: 
242-393

			

		

	





	
Functional annotations
(Submit an annotation)

	


There are 1 annotated functions for this event 


PMID: 10329718
DreEX0053710
Partially encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: . ELM ID: ELMI001441; ELM sequence: GLISPGV; Overlap: PARTIAL_RIGHT


		










GENOMIC CONTEXT[edit]












INCLUSION PATTERN[edit]






SPECIAL DATASETS
  • Autistic and control brains
  • Pre-implantation embryo development





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