HsaEX0012056 @ hg38
Exon Skipping
Gene
ENSG00000165995 | CACNB2
Description
calcium voltage-gated channel auxiliary subunit beta 2 [Source:HGNC Symbol;Acc:HGNC:1402]
Coordinates
chr10:18534076-18538365:+
Coord C1 exon
chr10:18534076-18534227
Coord A exon
chr10:18536101-18536196
Coord C2 exon
chr10:18538180-18538365
Length
96 bp
Sequences
Splice sites
3' ss Seq
AAACTCATTATCTTTTACAGGTT
3' ss Score
8.08
5' ss Seq
CCAGTAAGT
5' ss Score
9.09
Exon sequences
Seq C1 exon
CGGAAGTTCAGAGTGAAATCGAAAGGATTTTTGAACTTGCAAGAACATTGCAGTTGGTGGTCCTTGACGCGGATACAATTAATCATCCAGCTCAACTCAGTAAAACCTCCTTGGCCCCTATTATAGTATATGTAAAGATTTCTTCTCCTAAG
Seq A exon
GTTTTACAAAGGTTAATAAAATCTCGAGGGAAATCTCAAGCTAAACACCTCAACGTCCAGATGGTAGCAGCTGATAAACTGGCTCAGTGTCCTCCA
Seq C2 exon
GAGCTGTTCGATGTGATCTTGGATGAGAACCAGCTTGAGGATGCCTGTGAGCACCTTGCCGACTATCTGGAGGCCTACTGGAAGGCCACCCATCCTCCCAGCAGTAGCCTCCCCAACCCTCTCCTTAGCCGTACATTAGCCACTTCAAGTCTGCCTCTTAGCCCCACCCTAGCCTCTAATTCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165995_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.034 C2=0.477
Domain overlap (PFAM):
C1:
PF0062516=Guanylate_kin=FE(27.6=100)
A:
PF0062516=Guanylate_kin=FE(17.1=100)
C2:
PF0062516=Guanylate_kin=PD(13.8=40.3)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGTAAAACCTCCTTGGCCCCT
R:
CTAAGGAGAGGGTTGGGGAGG
Band lengths:
182-278
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