HsaEX0012052 @ hg38
Exon Skipping
Gene
ENSG00000067191 | CACNB1
Description
calcium voltage-gated channel auxiliary subunit beta 1 [Source:HGNC Symbol;Acc:HGNC:1401]
Coordinates
chr17:39184784-39186572:-
Coord C1 exon
chr17:39186496-39186572
Coord A exon
chr17:39185131-39185150
Coord C2 exon
chr17:39184784-39184864
Length
20 bp
Sequences
Splice sites
3' ss Seq
TTGGCAATCTCTGGACCCAGCCA
3' ss Score
1.4
5' ss Seq
TCGGTGAGT
5' ss Score
11.11
Exon sequences
Seq C1 exon
CAAATCAGGCGATAACTCCAGTTCCAGTCTGGGAGATGTGGTGACTGGCACCCGCCGCCCCACACCCCCTGCCAGTG
Seq A exon
CCAAACAGAAGCAGAAGTCG
Seq C2 exon
ACAGAGCATGTGCCCCCCTATGACGTGGTGCCTTCCATGAGGCCCATCATCCTGGTGGGACCGTCGCTCAAGGGCTACGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000067191-'24-25,'24-24,27-25
Average complexity
C2
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=0.218
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0062516=Guanylate_kin=PU(12.0=55.6)
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCTGGGAGATGTGGTGACTGG
R:
AGGATGATGGGCCTCATGGAA
Band lengths:
103-123
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