HsaEX0012029 @ hg38
Exon Skipping
Gene
ENSG00000157445 | CACNA2D3
Description
calcium voltage-gated channel auxiliary subunit alpha2delta 3 [Source:HGNC Symbol;Acc:HGNC:15460]
Coordinates
chr3:54879018-54880863:+
Coord C1 exon
chr3:54879018-54879089
Coord A exon
chr3:54879350-54879411
Coord C2 exon
chr3:54880796-54880863
Length
62 bp
Sequences
Splice sites
3' ss Seq
TTTTTTTTTTTTCAATCTAGAAA
3' ss Score
9.36
5' ss Seq
CAGGTAGAG
5' ss Score
7.1
Exon sequences
Seq C1 exon
TTGAGAAATGCTATGGTGAATCGAAAGACGGGGAAGTTTTCCATGGAGGTGAAGAAGACAGTGGACAAAGGG
Seq A exon
AAACGGGTTTTGGTGATGACAAATGACTACTATTATACAGACATCAAGGGTACTCCTTTCAG
Seq C2 exon
TTTAGGTGTGGCGCTTTCCAGAGGTCATGGGAAATATTTCTTCCGAGGGAATGTAACCATCGAAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000157445_CASSETTE1
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGAGAAATGCTATGGTGAATCGA
R:
TCGATGGTTACATTCCCTCGGA
Band lengths:
134-196
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