HsaEX0012048 @ hg19
Exon Skipping
Gene
ENSG00000067191 | CACNB1
Description
calcium channel, voltage-dependent, beta 1 subunit [Source:HGNC Symbol;Acc:1401]
Coordinates
chr17:37333603-37340117:-
Coord C1 exon
chr17:37339966-37340117
Coord A exon
chr17:37334237-37334332
Coord C2 exon
chr17:37333603-37333788
Length
96 bp
Sequences
Splice sites
3' ss Seq
TTTCTCTCTCCCCAAACCAGGTA
3' ss Score
9.71
5' ss Seq
CCTGTGAGT
5' ss Score
7.21
Exon sequences
Seq C1 exon
CTGAGGTGCAGAGTGAAATCGAGCGAATCTTCGAGCTGGCCCGGACCCTTCAGTTGGTCGCTCTGGATGCTGACACCATCAATCACCCAGCCCAGCTGTCCAAGACCTCGCTGGCCCCCATCATTGTTTACATCAAGATCACCTCTCCCAAG
Seq A exon
GTACTTCAAAGGCTCATCAAGTCCCGAGGAAAGTCTCAGTCCAAACACCTCAATGTCCAAATAGCGGCCTCGGAAAAGCTGGCACAGTGCCCCCCT
Seq C2 exon
GAAATGTTTGACATCATCCTGGATGAGAACCAATTGGAGGATGCCTGCGAGCATCTGGCGGAGTACTTGGAAGCCTATTGGAAGGCCACACACCCGCCCAGCAGCACGCCACCCAATCCGCTGCTGAACCGCACCATGGCTACCGCAGCCCTGGCTGCCAGCCCTGCCCCTGTCTCCAACCTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000067191_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.389
Domain overlap (PFAM):
C1:
PF0062516=Guanylate_kin=FE(27.6=100)
A:
PF0062516=Guanylate_kin=FE(17.1=100)
C2:
PF0062516=Guanylate_kin=PD(13.8=40.3)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACACCATCAATCACCCAGCC
R:
GGTGTGTGGCCTTCCAATAGG
Band lengths:
175-271
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)