HsaEX6056690 @ hg38
Exon Skipping
Gene
ENSG00000157445 | CACNA2D3
Description
calcium voltage-gated channel auxiliary subunit alpha2delta 3 [Source:HGNC Symbol;Acc:HGNC:15460]
Coordinates
chr3:54562800-54570104:+
Coord C1 exon
chr3:54562800-54562931
Coord A exon
chr3:54569795-54569855
Coord C2 exon
chr3:54569954-54570104
Length
61 bp
Sequences
Splice sites
3' ss Seq
TAACCCCATTTTTCTTCTAGGGA
3' ss Score
9.44
5' ss Seq
ATGGTAGGC
5' ss Score
7.42
Exon sequences
Seq C1 exon
ACCCTGCAATTGTCAATGGGGTTTATTGGTCTGAATCTCTAAACAAAGTTTTTGTAGATAACTTTGACCGTGACCCATCTCTCATATGGCAGTACTTTGGAAGTGCAAAGGGCTTTTTTAGGCAGTATCCGG
Seq A exon
GGATTAAATGGGAACCAGATGAGAATGGAGTCATTGCCTTCGACTGCAGGAACCGAAAATG
Seq C2 exon
GTACATCCAGGCAGCAACTTCTCCGAAAGACGTGGTCATTTTAGTTGACGTCAGTGGCAGCATGAAAGGACTCCGTCTGACTATCGCGAAGCAAACAGTCTCATCCATTTTGGATACACTTGGGGATGATGACTTCTTCAACATAATTGCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000157445_MULTIEX6-3/4=2-4
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:
PF083996=VWA_N=FE(37.6=100)
A:
PF083996=VWA_N=PD(2.6=14.3)
C2:
PF135191=VWA_2=PU(22.2=78.4)
Main Skipping Isoform:
ENST00000415676fB11179
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:
TTGACCGTGACCCATCTCTCA
R:
AGTCCTTTCATGCTGCCACTG
Band lengths:
141-202
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains