Special

HsaEX0012031 @ 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
chr3:54919308-54919353
Coord C2 exon
chr3:54921986-54922079
Length
46 bp
Sequences
Splice sites
3' ss Seq
CCCTTCTCCTTGACCCCCAGGCC
3' ss Score
9.96
5' ss Seq
ATGGTAAGA
5' ss Score
9.48
Exon sequences
Seq C1 exon
TTTAGGTGTGGCGCTTTCCAGAGGTCATGGGAAATATTTCTTCCGAGGGAATGTAACCATCGAAGAAG
Seq A exon
GCCTGCATGACTTAGAACATCCCGATGTGTCCTTGGCAGATGAATG
Seq C2 exon
GTGATAAAGAATTGATCCAAGAAGTCCTTTTTGACGCGGTGGTGAGTGCCCCCATTGAAGCGTATTGGACCAGCCTGGCCCTCAACAAATCTGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000157445_MULTIEX1-1/2=C1-C2
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=0.057 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


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:
GGCTGGTCCAATACGCTTCAA
Band lengths:
143-189
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