HsaEX0012064 @ hg38
Exon Skipping
Gene
ENSG00000167535 | CACNB3
Description
calcium voltage-gated channel auxiliary subunit beta 3 [Source:HGNC Symbol;Acc:HGNC:1403]
Coordinates
chr12:48824669-48825243:+
Coord C1 exon
chr12:48824669-48824733
Coord A exon
chr12:48824949-48824968
Coord C2 exon
chr12:48825163-48825243
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-'22-37,'22-35,23-37
Average complexity
S
Mappability confidence:
100%=75=100%
Protein Impact
ORF disruption upon sequence exclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.954 A=0.971 C2=0.242
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(11.5=93.3)
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