HsaEX0012054 @ hg19
Exon Skipping
Gene
ENSG00000067191 | CACNB1
Description
calcium channel, voltage-dependent, beta 1 subunit [Source:HGNC Symbol;Acc:1401]
Coordinates
chr17:37340284-37342825:-
Coord C1 exon
chr17:37342749-37342825
Coord A exon
chr17:37340578-37340636
Coord C2 exon
chr17:37340284-37340393
Length
59 bp
Sequences
Splice sites
3' ss Seq
CCACAAACCCCCACCCCCAGGTT
3' ss Score
5.28
5' ss Seq
CAGGTAAGA
5' ss Score
10.77
Exon sequences
Seq C1 exon
CAAATCAGGCGATAACTCCAGTTCCAGTCTGGGAGATGTGGTGACTGGCACCCGCCGCCCCACACCCCCTGCCAGTG
Seq A exon
GTTACAGACATGATGCAGAAAGCTTTATTTGACTTCTTGAAGCATCGGTTTGATGGCAG
Seq C2 exon
GATCTCCATCACTCGTGTGACGGCAGATATTTCCCTGGCTAAGCGCTCAGTTCTCAACAACCCCAGCAAACACATCATCATTGAGCGCTCCAACACACGCTCCAGCCTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000067191_MULTIEX1-4/4=C1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=0.000 C2=0.039
Domain overlap (PFAM):
C1:
NO
A:
PF0062516=Guanylate_kin=FE(10.5=100)
C2:
PF0062516=Guanylate_kin=FE(20.4=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:
TCCAGTCTGGGAGATGTGGTG
R:
TGATGTGTTTGCTGGGGTTGT
Band lengths:
132-191
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)