HsaEX0012054 @ hg38
Exon Skipping
Gene
ENSG00000067191 | CACNB1
Description
calcium voltage-gated channel auxiliary subunit beta 1 [Source:HGNC Symbol;Acc:HGNC:1401]
Coordinates
chr17:39184031-39184864:-
Coord C1 exon
chr17:39184784-39184864
Coord A exon
chr17:39184325-39184383
Coord C2 exon
chr17:39184031-39184140
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
ACAGAGCATGTGCCCCCCTATGACGTGGTGCCTTCCATGAGGCCCATCATCCTGGTGGGACCGTCGCTCAAGGGCTACGAG
Seq A exon
GTTACAGACATGATGCAGAAAGCTTTATTTGACTTCTTGAAGCATCGGTTTGATGGCAG
Seq C2 exon
GATCTCCATCACTCGTGTGACGGCAGATATTTCCCTGGCTAAGCGCTCAGTTCTCAACAACCCCAGCAAACACATCATCATTGAGCGCTCCAACACACGCTCCAGCCTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000067191-'28-27,'28-26,30-27
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.218 A=0.000 C2=0.042
Domain overlap (PFAM):
C1:
PF0062516=Guanylate_kin=PU(12.0=55.6)
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
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTCCATGAGGCCCATCATCCT
R:
TGTGTTGGAGCGCTCAATGAT
Band lengths:
146-205
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