HsaEX0012050 @ hg19
Exon Skipping
Gene
ENSG00000067191 | CACNB1
Description
calcium channel, voltage-dependent, beta 1 subunit [Source:HGNC Symbol;Acc:1401]
Coordinates
chr17:37347727-37351223:-
Coord C1 exon
chr17:37351137-37351223
Coord A exon
chr17:37349702-37350050
Coord C2 exon
chr17:37347727-37347846
Length
349 bp
Sequences
Splice sites
3' ss Seq
CCTCATCCCTCCTGTTGCAGGAC
3' ss Score
10.59
5' ss Seq
GTGGTGAGC
5' ss Score
6.64
Exon sequences
Seq C1 exon
GGCAAATACAGCAAGAGGAAAGGGCGATTCAAACGGTCAGATGGGAGCACGTCCTCGGATACCACATCCAACAGCTTTGTCCGCCAG
Seq A exon
GACATGGCCAGGGCTGGGAAGAATGACGCTGTGCTTTTATTGCCCCTCTTGGCAGAAAAGGACCTTGGCTCCTTCAGTGTTTGCCAACCCAGGGAGTCAGACCCCAGCCTCCAATTCTTCCTCCTTTTAGCTCCCCAGCTCTGATCCCCGGTAGGTGGTGGGGAGTGGTGGAGGGGGGCAGTCCTTGCCACATCTCTGAGCTAAATATACCCTAGCAGTCTGCACATGTAGCAACTCTGCTTGTAACCCGAGCCCCCAAGGGAACGGGCAGTTTGGGCCACCCCCTAGGCCAGCAGGGCCAGGCACTGAGGGTGCCGGGATGGAGGCGCCCAGCCGGACCGTGGTGGTG
Seq C2 exon
GGCTCAGCGGAGTCCTACACCAGCCGTCCATCAGACTCTGATGTATCTCTGGAGGAGGACCGGGAAGCCTTAAGGAAGGAAGCAGAGCGCCAGGCATTAGCGCAGCTCGAGAAGGCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000067191_CASSETTE3
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=0.085 C2=0.925
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF120523=VGCC_beta4Aa_N=PU(92.9=97.5)
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCAAATACAGCAAGAGGAAAGGG
R:
CTTGGCCTTCTCGAGCTGC
Band lengths:
206-555
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)