Special

HsaEX0012070 @ hg38

Exon Skipping

Gene
ENSG00000182389 | CACNB4
Description
calcium voltage-gated channel auxiliary subunit beta 4 [Source:HGNC Symbol;Acc:HGNC:1404]
Coordinates
chr2:151860711-151870611:-
Coord C1 exon
chr2:151870531-151870611
Coord A exon
chr2:151869177-151869235
Coord C2 exon
chr2:151860711-151860820
Length
59 bp
Sequences
Splice sites
3' ss Seq
TTTTTCTCACCTCTGCAAAGGTA
3' ss Score
7.29
5' ss Seq
GAGGTGAGA
5' ss Score
7.66
Exon sequences
Seq C1 exon
ACGGAGCACATTCCTCCTTACGATGTTGTACCGTCAATGCGTCCGGTGGTGTTAGTGGGGCCGTCACTGAAAGGTTACGAG
Seq A exon
GTAACAGACATGATGCAGAAAGCCCTCTTTGATTTCCTGAAGCACAGGTTTGATGGGAG
Seq C2 exon
GATTTCAATAACGAGAGTGACAGCTGACATTTCTCTTGCTAAGAGGTCTGTCCTAAATAATCCCAGCAAGAGAGCAATAATTGAACGTTCGAACACCCGGTCCAGCTTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000182389-'25-78,'25-75,27-78=AN
Average complexity
A_C3
Mappability confidence:
100%=100=100%
Protein Impact





	

	
ORF disruption upon sequence exclusion





Show PDB structure

		

			
Features


			

				
Disorder rate (Iupred):
  C1=0.148 A=0.039 C2=0.179
 
                        

				
Domain overlap (PFAM):

					





						

							
C1:
PF0062516=Guanylate_kin=PU(12.0=55.6)

							
A:
PF0062516=Guanylate_kin=FE(15.2=100)

							
C2:
PF0062516=Guanylate_kin=PU(13.9=93.3)

						

					

				








    
Main Inclusion Isoform:
ENSP00000438949





     
                   









    
Main Skipping Isoform:
ENSP00000490510





     
      









    
Other Inclusion Isoforms:
ENSP00000201943, ENSP00000353425, ENSP00000380490, ENSP00000390161, ENSP00000410978, ENSP00000443893, ENSP00000489621, ENSP00000489677, ENSP00000489679, ENSP00000489779, ENSP00000489787, ENSP00000489818, ENSP00000489876, ENSP00000489912, ENSP00000489967, ENSP00000490127, ENSP00000490144, ENSP00000490145, ENSP00000490247, ENSP00000490250, ENSP00000490276, ENSP00000490304, ENSP00000490337, ENSP00000490430, ENSP00000490443, ENSP00000490607, ENSP00000490910
          









    
Other Skipping Isoforms:
ENSP00000490252, ENSP00000490603
  



Associated events







Other assemblies


hg19




Conservation


Mouse
(mm10)
chr2:52464610-52464668 
ALTERNATIVE
MmuEX0008844
(Cacnb4)
Mouse
(mm9)
chr2:52320130-52320188 
ALTERNATIVE
MmuEX0008844
(Cacnb4)
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
chr2:44413234-44413292 
HIGH PSI
BtaEX0006817
(CACNB4)
Chicken
(galGal4)
chr7:34846163-34846221 
ALTERNATIVE
GgaEX0018915
(CACNB4)
Chicken
(galGal3)
chr7:36971005-36971063 
ALTERNATIVE
GgaEX0018915
(B6IDG6_CHICK)
Zebrafish
(danRer10)
chr9:38310962-38311020 
HIGH PSI
DreEX6037532
(cacnb4a)
Fruitfly
(dm6)
No conservation detected




Primers PCR

	

		

			
Suggestions for RT-PCR validation

			

				
F: 
CAATGCGTCCGGTGGTGTTAG

				
R: 
CCGGGTGTTCGAACGTTCAAT

				
Band lengths: 
147-206

			

		

	





	
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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