HsaEX0012024 @ hg38
Exon Skipping
Gene
ENSG00000157445 | CACNA2D3
Description
calcium voltage-gated channel auxiliary subunit alpha2delta 3 [Source:HGNC Symbol;Acc:HGNC:15460]
Coordinates
chr3:54642128-54764351:+
Coord C1 exon
chr3:54642128-54642241
Coord A exon
chr3:54752599-54752677
Coord C2 exon
chr3:54764218-54764351
Length
79 bp
Sequences
Splice sites
3' ss Seq
TGCGTTTGTCTTCCCTTCAGGTT
3' ss Score
12.03
5' ss Seq
AAGGTGGGT
5' ss Score
8.23
Exon sequences
Seq C1 exon
TTCAACCACACGGGACAAGGAAGTATCTGCAGTCAGGCCATCATGCTCATAACTGATGGGGCGGTGGACACCTATGATACAATCTTTGCAAAATACAATTGGCCAGATCGAAAG
Seq A exon
GTTCGCATCTTCACATACCTCATTGGACGAGAGGCTGCGTTTGCAGACAATCTAAAGTGGATGGCCTGTGCCAACAAAG
Seq C2 exon
GATTTTTTACCCAGATCTCCACCTTGGCTGATGTGCAGGAGAATGTCATGGAATACCTTCACGTGCTTAGCCGGCCCAAAGTCATCGACCAGGAGCATGATGTGGTGTGGACCGAAGCTTACATTGACAGCACT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000157445_MULTIEX4-5/6=C1-C2
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:
PF135191=VWA_2=PD(24.8=84.2)
A:
PF137681=VWA_3=PD(15.5=92.6)
C2:
PF135191=VWA_2=PD(10.6=42.2),PF0274313=Cache_1=PU(8.2=17.8)
Main Skipping Isoform:
ENST00000415676fB11183
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:
CTCATAACTGATGGGGCGGTG
R:
CACCACATCATGCTCCTGGTC
Band lengths:
176-255
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