HsaEX0012053 @ hg38
Exon Skipping
Gene
ENSG00000067191 | CACNB1
Description
calcium voltage-gated channel auxiliary subunit beta 1 [Source:HGNC Symbol;Acc:HGNC:1401]
Coordinates
chr17:39184325-39186572:-
Coord C1 exon
chr17:39186496-39186572
Coord A exon
chr17:39184784-39184864
Coord C2 exon
chr17:39184325-39184383
Length
81 bp
Sequences
Splice sites
3' ss Seq
CTCCCTGCTTCCCCCCCCAGACA
3' ss Score
11.48
5' ss Seq
GAGGTAGGA
5' ss Score
8.24
Exon sequences
Seq C1 exon
CAAATCAGGCGATAACTCCAGTTCCAGTCTGGGAGATGTGGTGACTGGCACCCGCCGCCCCACACCCCCTGCCAGTG
Seq A exon
ACAGAGCATGTGCCCCCCTATGACGTGGTGCCTTCCATGAGGCCCATCATCCTGGTGGGACCGTCGCTCAAGGGCTACGAG
Seq C2 exon
GTTACAGACATGATGCAGAAAGCTTTATTTGACTTCTTGAAGCATCGGTTTGATGGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000067191_MULTIEX3-3/3=C1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=0.218 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF0062516=Guanylate_kin=PU(12.0=55.6)
C2:
PF0062516=Guanylate_kin=FE(10.5=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCAGGCGATAACTCCAGTTCCA
R:
CATCAAACCGATGCTTCAAGAAGT
Band lengths:
128-209
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