Special

HsaEX6056690 @ hg19

Exon Skipping

Gene
ENSG00000157445 | CACNA2D3
Description
calcium channel, voltage-dependent, alpha 2/delta subunit 3 [Source:HGNC Symbol;Acc:15460]
Coordinates
chr3:54596827-54604131:+
Coord C1 exon
chr3:54596827-54596958
Coord A exon
chr3:54603822-54603882
Coord C2 exon
chr3:54603981-54604131
Length
61 bp
Sequences
Splice sites
3' ss Seq
TAACCCCATTTTTCTTCTAGGGA
3' ss Score
9.44
5' ss Seq
ATGGTAGGC
5' ss Score
7.42
Exon sequences
Seq C1 exon
ACCCTGCAATTGTCAATGGGGTTTATTGGTCTGAATCTCTAAACAAAGTTTTTGTAGATAACTTTGACCGTGACCCATCTCTCATATGGCAGTACTTTGGAAGTGCAAAGGGCTTTTTTAGGCAGTATCCGG
Seq A exon
GGATTAAATGGGAACCAGATGAGAATGGAGTCATTGCCTTCGACTGCAGGAACCGAAAATG
Seq C2 exon
GTACATCCAGGCAGCAACTTCTCCGAAAGACGTGGTCATTTTAGTTGACGTCAGTGGCAGCATGAAAGGACTCCGTCTGACTATCGCGAAGCAAACAGTCTCATCCATTTTGGATACACTTGGGGATGATGACTTCTTCAACATAATTGCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000157445-'13-15,'13-14,14-15=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=FE(37.6=100)
A:
PF083996=VWA_N=PD(2.6=14.3)
C2:
PF135191=VWA_2=PU(22.2=78.4)


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:
TTGACCGTGACCCATCTCTCA
R:
AGTCCTTTCATGCTGCCACTG
Band lengths:
141-202
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains