HsaEX0012047 @ hg19
Exon Skipping
Gene
ENSG00000067191 | CACNB1
Description
calcium channel, voltage-dependent, beta 1 subunit [Source:HGNC Symbol;Acc:1401]
Coordinates
chr17:37334237-37340117:-
Coord C1 exon
chr17:37339966-37340117
Coord A exon
chr17:37339224-37339263
Coord C2 exon
chr17:37334237-37334332
Length
40 bp
Sequences
Splice sites
3' ss Seq
CCATTAACTTTCCCTTCTAGATG
3' ss Score
11.17
5' ss Seq
GAGGTGGAG
5' ss Score
-0.52
Exon sequences
Seq C1 exon
CTGAGGTGCAGAGTGAAATCGAGCGAATCTTCGAGCTGGCCCGGACCCTTCAGTTGGTCGCTCTGGATGCTGACACCATCAATCACCCAGCCCAGCTGTCCAAGACCTCGCTGGCCCCCATCATTGTTTACATCAAGATCACCTCTCCCAAG
Seq A exon
ATGCCAGTGGGGATCTGAGAAACACGGAGGAAGAGTTGAG
Seq C2 exon
GTACTTCAAAGGCTCATCAAGTCCCGAGGAAAGTCTCAGTCCAAACACCTCAATGTCCAAATAGCGGCCTCGGAAAAGCTGGCACAGTGCCCCCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000067191-'14-14,'14-13,15-14
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0062516=Guanylate_kin=FE(27.6=100)
A:
PF0062516=Guanylate_kin=PD(0.8=16.7)
C2:
PF0062516=Guanylate_kin=FE(17.1=100)
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:
GCTCTGGATGCTGACACCATC
R:
GGACTGAGACTTTCCTCGGGA
Band lengths:
135-175
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)