Special

HsaEX0012069 @ hg38

Exon Skipping

Gene
ENSG00000182389 | CACNB4
Description
calcium voltage-gated channel auxiliary subunit beta 4 [Source:HGNC Symbol;Acc:HGNC:1404]
Coordinates
chr2:151870531-151872493:-
Coord C1 exon
chr2:151872417-151872493
Coord A exon
chr2:151870842-151870861
Coord C2 exon
chr2:151870531-151870611
Length
20 bp
Sequences
Splice sites
3' ss Seq
CTCTCGTTATTGTCTTTTAGCAA
3' ss Score
7.97
5' ss Seq
GTGGTAAGT
5' ss Score
10.36
Exon sequences
Seq C1 exon
GAAATCAAGTGGAAATTCTTCTTCAAGTCTTGGAGAAATGGTATCTGGGACATTCCGAGCAACTCCCACATCAACAG
Seq A exon
CAAAACAGAAGCAAAAAGTG
Seq C2 exon
ACGGAGCACATTCCTCCTTACGATGTTGTACCGTCAATGCGTCCGGTGGTGTTAGTGGGGCCGTCACTGAAAGGTTACGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000182389-'21-73,'21-72,23-73=AN
Average complexity
A_NA
Mappability confidence:
100%=100=75%
Protein Impact





	

	
ORF disruption upon sequence exclusion





Show structural model

		

			
Features


			

				
Disorder rate (Iupred):
  C1=0.847 A=0.960 C2=0.148
 
                        

				
Domain overlap (PFAM):

					





						

							
C1:
PF0062516=Guanylate_kin=PU(11.7=25.9)

							
A:
PF0062516=Guanylate_kin=FE(12.0=100)

							
C2:
PF0062516=Guanylate_kin=PU(12.0=55.6)

						

					

				








    
Main Inclusion Isoform:
ENSP00000438949





     
                   









    
Main Skipping Isoform:
ENSP00000489732





     
      









    
Other Inclusion Isoforms:
ENSP00000201943, ENSP00000353425, ENSP00000380490, ENSP00000390161, ENSP00000399242, ENSP00000410978, ENSP00000443893, ENSP00000489621, ENSP00000489677, ENSP00000489679, ENSP00000489697, ENSP00000489779, ENSP00000489787, ENSP00000489788, ENSP00000489818, ENSP00000489876, ENSP00000489881, ENSP00000489912, ENSP00000489953, ENSP00000489967, ENSP00000490124, ENSP00000490127, ENSP00000490145, ENSP00000490176, ENSP00000490247, ENSP00000490250, ENSP00000490252, ENSP00000490276, ENSP00000490298, ENSP00000490304, ENSP00000490337, ENSP00000490430, ENSP00000490443, ENSP00000490510, ENSP00000490572, ENSP00000490607, ENSP00000490651, ENSP00000490795, ENSP00000490891, ENSP00000490910, ENSP00000490918
          









    
Other Skipping Isoforms:
ENSP00000489772, ENSP00000489883, ENSP00000490144, ENSP00000490603, ENSP00000490787
  



Associated events







Other assemblies


hg19




Conservation


Mouse
(mm10)
chr2:52465894-52465913 
ALTERNATIVE
MmuEX0008845
(Cacnb4)
Mouse
(mm9)
chr2:52321414-52321433 
ALTERNATIVE
MmuEX0008845
(Cacnb4)
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
chr2:44411623-44411642 
ALTERNATIVE
BtaEX0006816
(CACNB4)
Chicken
(galGal4)
chr7:34848183-34848202 
ALTERNATIVE
GgaEX0018914
(CACNB4)
Chicken
(galGal3)
chr7:36973025-36973044 
ALTERNATIVE
GgaEX0018914
(B6IDG6_CHICK)
Zebrafish
(danRer10)
chr6:13980526-13980545 
HIGH PSI
DreEX6103800
(cacnb4b)
Zebrafish
(danRer10)
chr9:38308410-38308429 
HIGH PSI
DreEX0018238
(cacnb4a)
Fruitfly
(dm6)
No conservation detected




Primers PCR

	

		

			
Suggestions for RT-PCR validation

			

				
F: 
CTGGGACATTCCGAGCAACTC

				
R: 
GTAACCTTTCAGTGACGGCCC

				
Band lengths: 
111-131

			

		

	





	
Functional annotations
(Submit an annotation)

	


There are 0 annotated functions for this event 


		










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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