Special

HsaEX0012062 @ hg38

Exon Skipping

Gene
ENSG00000167535 | CACNB3
Description
calcium voltage-gated channel auxiliary subunit beta 3 [Source:HGNC Symbol;Acc:HGNC:1403]
Coordinates
chr12:48824949-48825492:+
Coord C1 exon
chr12:48824949-48824968
Coord A exon
chr12:48825163-48825243
Coord C2 exon
chr12:48825434-48825492
Length
81 bp
Sequences
Splice sites
3' ss Seq
ACCTCATGTCCATTCTGCAGGCG
3' ss Score
8.36
5' ss Seq
GAGGTGAGA
5' ss Score
7.66
Exon sequences
Seq C1 exon
CCAAGCAGAAGCAAAAGCAG
Seq A exon
GCGGAACATGTTCCCCCATATGACGTGGTGCCCTCCATGCGGCCTGTGGTGCTGGTGGGACCCTCTCTGAAAGGTTATGAG
Seq C2 exon
GTCACAGACATGATGCAGAAGGCTCTCTTCGACTTCCTCAAACACAGATTTGATGGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167535-'23-38,'23-37,25-38
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.971 A=0.242 C2=0.000
Domain overlap (PFAM):

C1:
PF0062516=Guanylate_kin=PU(3.5=85.7)
A:
PF0062516=Guanylate_kin=PU(11.5=93.3)
C2:
PF0062516=Guanylate_kin=FE(10.5=100)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Primers PCR
Suggestions for RT-PCR validation
F:
CCAAGCAGAAGCAAAAGCAG
R:
CTGCCATCAAATCTGTGTTTGAGG
Band lengths:
79-160
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development