Special

HsaEX0012025 @ hg38

Exon Skipping

Gene
ENSG00000157445 | CACNA2D3
Description
calcium voltage-gated channel auxiliary subunit alpha2delta 3 [Source:HGNC Symbol;Acc:HGNC:15460]
Coordinates
chr3:54752599-54764351:+
Coord C1 exon
chr3:54752599-54752677
Coord A exon
chr3:54762671-54762771
Coord C2 exon
chr3:54764218-54764351
Length
101 bp
Sequences
Splice sites
3' ss Seq
TAACATCTCCTAACCCACAGCAA
3' ss Score
6.58
5' ss Seq
ATGGTGAGA
5' ss Score
7.23
Exon sequences
Seq C1 exon
GTTCGCATCTTCACATACCTCATTGGACGAGAGGCTGCGTTTGCAGACAATCTAAAGTGGATGGCCTGTGCCAACAAAG
Seq A exon
CAAAGCTGATGTGACCCCAAGCTCTACAGCAGTACAGGAACATAGCAGCGCCCTGGAACTAAAGACCAAAATAGTGTCACCAATCACAAGACAACAGCATG
Seq C2 exon
GATTTTTTACCCAGATCTCCACCTTGGCTGATGTGCAGGAGAATGTCATGGAATACCTTCACGTGCTTAGCCGGCCCAAAGTCATCGACCAGGAGCATGATGTGGTGTGGACCGAAGCTTACATTGACAGCACT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000157445_MULTIEX4-6/6=5-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

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:
NO
C2:
PF135191=VWA_2=PD(10.6=42.2),PF0274313=Cache_1=PU(8.2=17.8)


Main Inclusion Isoform:
ENST00000415676fB1280


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCGCATCTTCACATACCTCATTGG
R:
GTGCTGTCAATGTAAGCTTCGG
Band lengths:
210-311
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development