HsaEX0012046 @ hg38
Exon Skipping
Gene
ENSG00000067191 | CACNB1
Description
calcium voltage-gated channel auxiliary subunit beta 1 [Source:HGNC Symbol;Acc:HGNC:1401]
Coordinates
chr17:39177984-39184140:-
Coord C1 exon
chr17:39184031-39184140
Coord A exon
chr17:39183713-39183864
Coord C2 exon
chr17:39177984-39178079
Length
152 bp
Sequences
Splice sites
3' ss Seq
ACATGACTCCATGCCCCCAGCTG
3' ss Score
5.47
5' ss Seq
AAGGTGGGT
5' ss Score
8.23
Exon sequences
Seq C1 exon
GATCTCCATCACTCGTGTGACGGCAGATATTTCCCTGGCTAAGCGCTCAGTTCTCAACAACCCCAGCAAACACATCATCATTGAGCGCTCCAACACACGCTCCAGCCTGG
Seq A exon
CTGAGGTGCAGAGTGAAATCGAGCGAATCTTCGAGCTGGCCCGGACCCTTCAGTTGGTCGCTCTGGATGCTGACACCATCAATCACCCAGCCCAGCTGTCCAAGACCTCGCTGGCCCCCATCATTGTTTACATCAAGATCACCTCTCCCAAG
Seq C2 exon
GTACTTCAAAGGCTCATCAAGTCCCGAGGAAAGTCTCAGTCCAAACACCTCAATGTCCAAATAGCGGCCTCGGAAAAGCTGGCACAGTGCCCCCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000067191-'31-33,'31-28,32-33
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.042 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0062516=Guanylate_kin=FE(20.4=100)
A:
PF0062516=Guanylate_kin=FE(27.6=100)
C2:
PF0062516=Guanylate_kin=FE(17.1=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CACTCGTGTGACGGCAGATAT
R:
CACTGTGCCAGCTTTTCCGAG
Band lengths:
190-342
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