Special

HsaEX7001962 @ hg38

Exon Skipping

Gene
ENSG00000168036 | CTNNB1
Description
catenin beta 1 [Source:HGNC Symbol;Acc:HGNC:2514]
Coordinates
chr3:41224021-41225207:+
Coord C1 exon
chr3:41224021-41224081
Coord A exon
chr3:41224526-41224753
Coord C2 exon
chr3:41224954-41225207
Length
228 bp
Sequences
Splice sites
3' ss Seq
ATACTGTTTCGTATTTATAGCTG
3' ss Score
7.67
5' ss Seq
CTGGTAAGA
5' ss Score
9.45
Exon sequences
Seq C1 exon
GGTATTTGAAGTATACCATACAACTGTTTTGAAAATCCAGCGTGGACAATGGCTACTCAAG
Seq A exon
CTGATTTGATGGAGTTGGACATGGCCATGGAACCAGACAGAAAAGCGGCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCACAGCTCCTTCTCTGAGTGGTAAAGGCAATCCTGAGGAAGAGGATGTGGATACCTCCCAAGTCCTGTATGAGTGGGAACAGGGATTTTCTCAGTCCTTCACTCAAGAACAAGTAGCTG
Seq C2 exon
ATATTGATGGACAGTATGCAATGACTCGAGCTCAGAGGGTACGAGCTGCTATGTTCCCTGAGACATTAGATGAGGGCATGCAGATCCCATCTACACAGTTTGATGCTGCTCATCCCACTAATGTCCAGCGTTTGGCTGAACCATCACAGATGCTGAAACATGCAGTTGTAAACTTGATTAACTATCAAGATGATGCAGAACTTGCCACACGTGCAATCCCTGAACTGACAAAACTGCTAAATGACGAGGACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000168036-'13-24,'13-22,17-24=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact





	

	
Alternative protein isoforms (Ref)





No structure available

		

			
Features


			

				
Disorder rate (Iupred):
  C1=0.244 A=0.716 C2=0.396
 
                        

				
Domain overlap (PFAM):

					





						

							
C1:
NO

							
A:
NO

							
C2:
PF136461=HEAT_2=PU(46.1=55.3)

						

					

				








    
Main Inclusion Isoform:
ENSP00000344456





     
                   









    
Main Skipping Isoform:
NA





     
      









    
Other Inclusion Isoforms:
ENSP00000379486, ENSP00000379488, ENSP00000385604, ENSP00000387455, ENSP00000401599, ENSP00000409302, ENSP00000411226, ENSP00000412219
          









    
Other Skipping Isoforms:
NA
  



Associated events







Conservation


Mouse
(mm10)
chr9:120950522-120950749 
HIGH PSI
MmuEX6069912
(Ctnnb1)
Mouse
(mm9)
chr9:120859640-120859867 
HIGH PSI
MmuEX6069912
(Ctnnb1)
Rat
(rn6)
chr8:129618172-129618399 
HIGH PSI
RnoEX0025175
(Ctnnb1)
Cow
(bosTau6)
chr22:13876468-13876695 
HIGH PSI
BtaEX6093584
(CTNNB1)
Chicken
(galGal4)
chr2:44040100-44040327 
HIGH PSI
GgaEX6019680
(CTNNB1)
Chicken
(galGal3)
chr2:43472327-43472554 
HIGH PSI
GgaEX6019680
(CTNNB1)
Zebrafish
(danRer10)
chr16:6297022-6297246 
HIGH PSI
DreEX6039315
(ctnnb1)
Fruitfly
(dm6)
No conservation detected




Primers PCR

	

		

			
Suggestions for RT-PCR validation

			

				
F: 
ACTGTTTTGAAAATCCAGCGTGG

				
R: 
TGGTCCTCGTCATTTAGCAGT

				
Band lengths: 
292-520

			

		

	





	
Functional annotations
(Submit an annotation)

	


There are 5 annotated functions for this event 


PMID: 10074433
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: . ELM ID: ELMI002616; ELM sequence: YLDSGIHS; Overlap: FULL


PMID: 11955436
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: . ELM ID: ELMI002616; ELM sequence: YLDSGIHS; Overlap: FULL


PMID: 12820959
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: . ELM ID: ELMI001302; ELM sequence: DSGIHS; Overlap: FULL


PMID: 19061640
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: . ELM ID: ELMI002616; ELM sequence: YLDSGIHS; Overlap: FULL


PMID: 12417018
MmuEX6069912
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: mutation analysis, western blot. ELM ID: ELMI002615; ELM sequence: YLDSGIHS; Overlap: FULL


		










GENOMIC CONTEXT[edit]












INCLUSION PATTERN[edit]






SPECIAL DATASETS
  • Autistic and control brains





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