HsaEX0012047 @ hg38
Exon Skipping
Gene
ENSG00000067191 | CACNB1
Description
calcium voltage-gated channel auxiliary subunit beta 1 [Source:HGNC Symbol;Acc:HGNC:1401]
Coordinates
chr17:39177984-39183864:-
Coord C1 exon
chr17:39183713-39183864
Coord A exon
chr17:39182911-39183010
Coord C2 exon
chr17:39177984-39178079
Length
100 bp
Sequences
Splice sites
3' ss Seq
CCATTAACTTTCCCTTCTAGATG
3' ss Score
11.17
5' ss Seq
TACGTATTG
5' ss Score
-3.01
Exon sequences
Seq C1 exon
CTGAGGTGCAGAGTGAAATCGAGCGAATCTTCGAGCTGGCCCGGACCCTTCAGTTGGTCGCTCTGGATGCTGACACCATCAATCACCCAGCCCAGCTGTCCAAGACCTCGCTGGCCCCCATCATTGTTTACATCAAGATCACCTCTCCCAAG
Seq A exon
ATGCCAGTGGGGATCTGAGAAACACGGAGGAAGAGTTGAGGTGGAGGATTTGAAGTTAGAAGACAGCATGGGCTTGAAATTCAAGCTCTGATTGGTTTAC
Seq C2 exon
GTACTTCAAAGGCTCATCAAGTCCCGAGGAAAGTCTCAGTCCAAACACCTCAATGTCCAAATAGCGGCCTCGGAAAAGCTGGCACAGTGCCCCCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000067191_MULTIEX1-1/2=C1-2
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)
Main Inclusion Isoform:
ENST00000394303fB1284
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
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:
GTGCAGAGTGAAATCGAGCGA
R:
CACTGTGCCAGCTTTTCCGAG
Band lengths:
236-336
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