HsaEX0012046 @ hg19
Exon Skipping
Gene
ENSG00000067191 | CACNB1
Description
calcium channel, voltage-dependent, beta 1 subunit [Source:HGNC Symbol;Acc:1401]
Coordinates
chr17:37334237-37340393:-
Coord C1 exon
chr17:37340284-37340393
Coord A exon
chr17:37339966-37340117
Coord C2 exon
chr17:37334237-37334332
Length
152 bp
Sequences
Splice sites
3' ss Seq
ACATGACTCCATGCCCCCAGCTG
3' ss Score
5.47
5' ss Seq
AAGGTGGGT
5' ss Score
8.23
Exon sequences
Seq C1 exon
GATCTCCATCACTCGTGTGACGGCAGATATTTCCCTGGCTAAGCGCTCAGTTCTCAACAACCCCAGCAAACACATCATCATTGAGCGCTCCAACACACGCTCCAGCCTGG
Seq A exon
CTGAGGTGCAGAGTGAAATCGAGCGAATCTTCGAGCTGGCCCGGACCCTTCAGTTGGTCGCTCTGGATGCTGACACCATCAATCACCCAGCCCAGCTGTCCAAGACCTCGCTGGCCCCCATCATTGTTTACATCAAGATCACCTCTCCCAAG
Seq C2 exon
GTACTTCAAAGGCTCATCAAGTCCCGAGGAAAGTCTCAGTCCAAACACCTCAATGTCCAAATAGCGGCCTCGGAAAAGCTGGCACAGTGCCCCCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000067191-'13-14,'13-12,14-14
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.039 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0062516=Guanylate_kin=FE(20.4=100)
A:
PF0062516=Guanylate_kin=FE(27.6=100)
C2:
PF0062516=Guanylate_kin=FE(17.1=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CACTCGTGTGACGGCAGATAT
R:
CACTGTGCCAGCTTTTCCGAG
Band lengths:
190-342
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
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)