Special

HsaEX6056688 @ hg38

Exon Skipping

Gene
ENSG00000157445 | CACNA2D3
Description
calcium voltage-gated channel auxiliary subunit alpha2delta 3 [Source:HGNC Symbol;Acc:HGNC:15460]
Coordinates
chr3:54569954-54627876:+
Coord C1 exon
chr3:54569954-54570104
Coord A exon
chr3:54581803-54581877
Coord C2 exon
chr3:54627787-54627876
Length
75 bp
Sequences
Splice sites
3' ss Seq
TTGACTTTTTTCCTTTGCAGTAT
3' ss Score
10.37
5' ss Seq
GAGGTAGGG
5' ss Score
7.81
Exon sequences
Seq C1 exon
GTACATCCAGGCAGCAACTTCTCCGAAAGACGTGGTCATTTTAGTTGACGTCAGTGGCAGCATGAAAGGACTCCGTCTGACTATCGCGAAGCAAACAGTCTCATCCATTTTGGATACACTTGGGGATGATGACTTCTTCAACATAATTGCT
Seq A exon
TATAATGAGGAGCTTCACTATGTGGAACCTTGCCTGAATGGAACTTTGGTGCAAGCCGACAGGACAAACAAAGAG
Seq C2 exon
CACTTCAGGGAGCATCTGGACAAACTTTTCGCCAAAGGAATTGGAATGTTGGATATAGCTCTGAATGAGGCCTTCAACATTCTGAGTGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000157445-'28-25,'28-23,29-25
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF135191=VWA_2=PU(22.2=78.4)
A:
PF135191=VWA_2=FE(13.3=100)
C2:
PF135191=VWA_2=FE(16.1=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CATCCAGGCAGCAACTTCTCC
R:
TGTCCAGATGCTCCCTGAAGT
Band lengths:
170-245
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains