Special

HsaEX0012032 @ hg19

Exon Skipping

Gene
ENSG00000157445 | CACNA2D3
Description
calcium channel, voltage-dependent, alpha 2/delta subunit 3 [Source:HGNC Symbol;Acc:15460]
Coordinates
chr3:54914823-54922079:+
Coord C1 exon
chr3:54914823-54914890
Coord A exon
chr3:54919516-54919613
Coord C2 exon
chr3:54921986-54922079
Length
98 bp
Sequences
Splice sites
3' ss Seq
GGGCCATGTCATGTTCTTAGGTC
3' ss Score
6.81
5' ss Seq
AGTGTGAGT
5' ss Score
6.96
Exon sequences
Seq C1 exon
TTTAGGTGTGGCGCTTTCCAGAGGTCATGGGAAATATTTCTTCCGAGGGAATGTAACCATCGAAGAAG
Seq A exon
GTCCTACTGCAACACTGACCTACACCCTGAGCACCGCCATCTGTCTCAGTTAGAAGCGATTAAGCTCTACCTAAAAGGCAAAGAACCTCTGCTCCAGT
Seq C2 exon
GTGATAAAGAATTGATCCAAGAAGTCCTTTTTGACGCGGTGGTGAGTGCCCCCATTGAAGCGTATTGGACCAGCCTGGCCCTCAACAAATCTGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000157445_MULTIEX1-2/2=C1-C2
Average complexity
C3
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


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTTAGGTGTGGCGCTTTCCAG
R:
TCAGATTTGTTGAGGGCCAGG
Band lengths:
162-260
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