HsaEX6087745 @ hg38
Exon Skipping
Gene
ENSG00000165995 | CACNB2
Description
calcium voltage-gated channel auxiliary subunit beta 2 [Source:HGNC Symbol;Acc:HGNC:1402]
Coordinates
chr10:18527588-18536196:+
Coord C1 exon
chr10:18527588-18527697
Coord A exon
chr10:18534076-18534227
Coord C2 exon
chr10:18536101-18536196
Length
152 bp
Sequences
Splice sites
3' ss Seq
AATTGTTTCGCCCTTTACAGCGG
3' ss Score
8.9
5' ss Seq
AAGGTAAGT
5' ss Score
11
Exon sequences
Seq C1 exon
GATATCCATCACAAGGGTCACCGCTGACATCTCGCTTGCCAAACGCTCGGTATTAAACAATCCCAGTAAGCACGCAATAATAGAAAGATCCAACACAAGGTCAAGCTTAG
Seq A exon
CGGAAGTTCAGAGTGAAATCGAAAGGATTTTTGAACTTGCAAGAACATTGCAGTTGGTGGTCCTTGACGCGGATACAATTAATCATCCAGCTCAACTCAGTAAAACCTCCTTGGCCCCTATTATAGTATATGTAAAGATTTCTTCTCCTAAG
Seq C2 exon
GTTTTACAAAGGTTAATAAAATCTCGAGGGAAATCTCAAGCTAAACACCTCAACGTCCAGATGGTAGCAGCTGATAAACTGGCTCAGTGTCCTCCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165995-'37-52,'37-51,38-52=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.149 A=0.000 C2=0.034
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)
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:
TATCCATCACAAGGGTCACCG
R:
TGGAGGACACTGAGCCAGTTT
Band lengths:
204-356
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains