HsaEX0012064 @ hg19
Exon Skipping
Gene
ENSG00000167535 | CACNB3
Description
calcium channel, voltage-dependent, beta 3 subunit [Source:HGNC Symbol;Acc:1403]
Coordinates
chr12:49218452-49219026:+
Coord C1 exon
chr12:49218452-49218516
Coord A exon
chr12:49218732-49218751
Coord C2 exon
chr12:49218946-49219026
Length
20 bp
Sequences
Splice sites
3' ss Seq
GTATTTCCTTTTCCAAAAAGCCA
3' ss Score
4.26
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
Exon sequences
Seq C1 exon
GAGATCTGGGAACCCTTCCAGCCTGAGTGACATTGGCAACCGACGCTCCCCTCCGCCATCTCTAG
Seq A exon
CCAAGCAGAAGCAAAAGCAG
Seq C2 exon
GCGGAACATGTTCCCCCATATGACGTGGTGCCCTCCATGCGGCCTGTGGTGCTGGTGGGACCCTCTCTGAAAGGTTATGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167535_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show structural model
Features
Disorder rate (Iupred):
C1=1.000 A=1.000 C2=0.185
Domain overlap (PFAM):
C1:
PF0062516=Guanylate_kin=PU(0.1=0.0)
A:
PF0062516=Guanylate_kin=PU(3.5=85.7)
C2:
PF0062516=Guanylate_kin=PU(27.5=93.3),PF130921=CENP-L=PU(2.6=6.7)
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGAGTGACATTGGCAACCGA
R:
TTTCAGAGAGGGTCCCACCAG
Band lengths:
115-135
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)