HsaEX6056686 @ hg38
Exon Skipping
Gene
ENSG00000157445 | CACNA2D3
Description
calcium voltage-gated channel auxiliary subunit alpha2delta 3 [Source:HGNC Symbol;Acc:HGNC:15460]
Coordinates
chr3:54752599-54816870:+
Coord C1 exon
chr3:54752599-54752677
Coord A exon
chr3:54764218-54764351
Coord C2 exon
chr3:54816853-54816870
Length
134 bp
Sequences
Splice sites
3' ss Seq
CCTCCCTTGGGTTTTGACAGGAT
3' ss Score
7.47
5' ss Seq
ACTGTGAGT
5' ss Score
7.94
Exon sequences
Seq C1 exon
GTTCGCATCTTCACATACCTCATTGGACGAGAGGCTGCGTTTGCAGACAATCTAAAGTGGATGGCCTGTGCCAACAAAG
Seq A exon
GATTTTTTACCCAGATCTCCACCTTGGCTGATGTGCAGGAGAATGTCATGGAATACCTTCACGTGCTTAGCCGGCCCAAAGTCATCGACCAGGAGCATGATGTGGTGTGGACCGAAGCTTACATTGACAGCACT
Seq C2 exon
CTCCCTCAGGCACAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000157445-'58-55,'58-45,61-55
Average complexity
C2
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:
PF137681=VWA_3=PD(15.5=92.6)
A:
PF135191=VWA_2=PD(10.6=42.2),PF0274313=Cache_1=PU(8.2=17.8)
C2:
PF0274313=Cache_1=FE(5.1=100)
Main Skipping Isoform:
ENST00000415676fB11180
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:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains