Special

HsaEX6056689 @ hg19

Exon Skipping

Gene
ENSG00000157445 | CACNA2D3
Description
calcium channel, voltage-dependent, alpha 2/delta subunit 3 [Source:HGNC Symbol;Acc:15460]
Coordinates
chr3:54603822-54615904:+
Coord C1 exon
chr3:54603822-54603882
Coord A exon
chr3:54603981-54604131
Coord C2 exon
chr3:54615830-54615904
Length
151 bp
Sequences
Splice sites
3' ss Seq
TAATTTTTCCCTTGACCTAGGTA
3' ss Score
7.82
5' ss Seq
GCTGTGAGT
5' ss Score
7.39
Exon sequences
Seq C1 exon
GGATTAAATGGGAACCAGATGAGAATGGAGTCATTGCCTTCGACTGCAGGAACCGAAAATG
Seq A exon
GTACATCCAGGCAGCAACTTCTCCGAAAGACGTGGTCATTTTAGTTGACGTCAGTGGCAGCATGAAAGGACTCCGTCTGACTATCGCGAAGCAAACAGTCTCATCCATTTTGGATACACTTGGGGATGATGACTTCTTCAACATAATTGCT
Seq C2 exon
TATAATGAGGAGCTTCACTATGTGGAACCTTGCCTGAATGGAACTTTGGTGCAAGCCGACAGGACAAACAAAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000157445-'14-16,'14-15,15-16=AN
Average complexity
A_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=PD(2.6=14.3)
A:
PF135191=VWA_2=PU(22.2=78.4)
C2:
PF135191=VWA_2=FE(13.3=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCAGATGAGAATGGAGTCATTGC
R:
TCTTTGTTTGTCCTGTCGGCT
Band lengths:
122-273
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains