HsaEX0012049 @ hg38
Exon Skipping
Gene
ENSG00000067191 | CACNB1
Description
calcium voltage-gated channel auxiliary subunit beta 1 [Source:HGNC Symbol;Acc:HGNC:1401]
Coordinates
chr17:39186496-39187601:-
Coord C1 exon
chr17:39187479-39187601
Coord A exon
chr17:39186793-39186929
Coord C2 exon
chr17:39186496-39186572
Length
137 bp
Sequences
Splice sites
3' ss Seq
ACCTGCCATATTCTTTGCAGAAA
3' ss Score
9.33
5' ss Seq
CAGGTGTCT
5' ss Score
2.68
Exon sequences
Seq C1 exon
ACCAAGCCAGTGGCATTTGCTGTGCGGACAAATGTTGGCTACAATCCGTCTCCAGGGGATGAGGTGCCTGTGCAGGGAGTGGCCATCACCTTCGAGCCCAAAGACTTCCTGCACATCAAGGAG
Seq A exon
AAATACAATAATGACTGGTGGATCGGGCGGCTGGTGAAGGAGGGCTGTGAGGTTGGCTTCATTCCCAGCCCCGTCAAACTGGACAGCCTTCGCCTGCTGCAGGAACAGAAGCTGCGCCAGAACCGCCTCGGCTCCAG
Seq C2 exon
CAAATCAGGCGATAACTCCAGTTCCAGTCTGGGAGATGTGGTGACTGGCACCCGCCGCCCCACACCCCCTGCCAGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000067191-'20-21,'20-20,22-21
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.484 A=0.170 C2=1.000
Domain overlap (PFAM):
C1:
PF120523=VGCC_beta4Aa_N=PD(2.4=2.4),PF0001823=SH3_1=PU(44.2=46.3)
A:
PF0001823=SH3_1=PD(51.2=47.8)
C2:
NO
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:
CCAGTGGCATTTGCTGTGC
R:
CACTGGCAGGGGGTGTGG
Band lengths:
194-331
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