HsaEX6066278 @ hg38
Exon Skipping
Gene
ENSG00000167535 | CACNB3
Description
calcium voltage-gated channel auxiliary subunit beta 3 [Source:HGNC Symbol;Acc:HGNC:1403]
Coordinates
chr12:48825163-48828941:+
Coord C1 exon
chr12:48825163-48825243
Coord A exon
chr12:48825434-48825492
Coord C2 exon
chr12:48828662-48828941
Length
59 bp
Sequences
Splice sites
3' ss Seq
AGTGCCATGCCTTCCCCCAGGTC
3' ss Score
8.52
5' ss Seq
CAGGTAAGC
5' ss Score
9.88
Exon sequences
Seq C1 exon
GCGGAACATGTTCCCCCATATGACGTGGTGCCCTCCATGCGGCCTGTGGTGCTGGTGGGACCCTCTCTGAAAGGTTATGAG
Seq A exon
GTCACAGACATGATGCAGAAGGCTCTCTTCGACTTCCTCAAACACAGATTTGATGGCAG
Seq C2 exon
AACTTAGGGGGGCCTCCTTGCCTTTCTCATTCTTTTGCCCTGCATCCTGTCATTTCTGTTCTTGTCCCTCATACATCTTTGGAGAACCGGGCTCCAGACTTTGTTCCCTGACTCATAGCTGCCGCTTGTTAGGTTAGGGTTAGATGGGGAGAGACAGGGCACAGAGGACCTGTCTCCCCGGCTACTCTTGCCTTATGGCTCTAGTGTGTGACCTACAGAGCATGCTCCACAAGCCCCTGCCTCACCTCACTGTCATCACTAATAAACATCATGCACAGTC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167535_MULTIEX2-6/10=5-C2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.242 A=0.000 C2=0.668
Domain overlap (PFAM):
C1:
PF0062516=Guanylate_kin=PU(11.5=93.3)
A:
PF0062516=Guanylate_kin=FE(10.5=100)
C2:
NO
Other Inclusion Isoforms:
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:
TGGTGGGACCCTCTCTGAAAG
R:
CAGGGAACAAAGTCTGGAGCC
Band lengths:
139-198
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains