HsaEX0012030 @ hg38
Exon Skipping
Gene
ENSG00000157445 | CACNA2D3
Description
calcium voltage-gated channel auxiliary subunit alpha2delta 3 [Source:HGNC Symbol;Acc:HGNC:15460]
Coordinates
chr3:54899788-54968511:+
Coord C1 exon
chr3:54899788-54899868
Coord A exon
chr3:54912294-54912388
Coord C2 exon
chr3:54968450-54968511
Length
95 bp
Sequences
Splice sites
3' ss Seq
CATATTCTGTTTGTTTGAAGCGA
3' ss Score
6.67
5' ss Seq
CCTGTAAGT
5' ss Score
7.52
Exon sequences
Seq C1 exon
GACCAGTCAATAAAAGCAATGTGGTGACAGCAAGTACATCCATCCAGCTCCTGGATGAACGGAAATCTCCTGTGGTGGCAG
Seq A exon
CGAGTCACTAGGTCCAGCCCACAGTCAAGGAGAGAGCATGAGTTCCAGGAGGCAAGAATCATTGAGAGTTATCCTAAAAGCACCTGCCACAACCT
Seq C2 exon
CTGTAGGCATTCAGATGAAACTTGAATTTTTCCAAAGGAAGTTCTGGACTGCCAGCAGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000157445_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.667 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Inclusion Isoform:
ENST00000415676fB1281
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACCAGTCAATAAAAGCAATGTGGT
R:
CTGTCTGCTGGCAGTCCA
Band lengths:
143-238
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development