HsaEX0012023 @ hg38
Exon Skipping
Gene
ENSG00000157445 | CACNA2D3
Description
calcium voltage-gated channel auxiliary subunit alpha2delta 3 [Source:HGNC Symbol;Acc:HGNC:15460]
Coordinates
chr3:54627787-54752677:+
Coord C1 exon
chr3:54627787-54627876
Coord A exon
chr3:54642128-54642241
Coord C2 exon
chr3:54752599-54752677
Length
114 bp
Sequences
Splice sites
3' ss Seq
GAACTTATTTCTTTCCCTAGTTC
3' ss Score
7.88
5' ss Seq
AAGGTAAGT
5' ss Score
11
Exon sequences
Seq C1 exon
CACTTCAGGGAGCATCTGGACAAACTTTTCGCCAAAGGAATTGGAATGTTGGATATAGCTCTGAATGAGGCCTTCAACATTCTGAGTGAT
Seq A exon
TTCAACCACACGGGACAAGGAAGTATCTGCAGTCAGGCCATCATGCTCATAACTGATGGGGCGGTGGACACCTATGATACAATCTTTGCAAAATACAATTGGCCAGATCGAAAG
Seq C2 exon
GTTCGCATCTTCACATACCTCATTGGACGAGAGGCTGCGTTTGCAGACAATCTAAAGTGGATGGCCTGTGCCAACAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000157445-'33-39,'33-27,54-39
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF135191=VWA_2=FE(16.1=100)
A:
PF135191=VWA_2=PD(24.8=84.2)
C2:
PF137681=VWA_3=PD(15.5=92.6)
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:
ACTTCAGGGAGCATCTGGACA
R:
GCACAGGCCATCCACTTTAGA
Band lengths:
160-274
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