Special

HsaEX6056691 @ hg38

Exon Skipping

Gene
ENSG00000157445 | CACNA2D3
Description
calcium voltage-gated channel auxiliary subunit alpha2delta 3 [Source:HGNC Symbol;Acc:HGNC:15460]
Coordinates
chr3:54320442-54503654:+
Coord C1 exon
chr3:54320442-54320558
Coord A exon
chr3:54386715-54386774
Coord C2 exon
chr3:54503492-54503654
Length
60 bp
Sequences
Splice sites
3' ss Seq
TTTTTTTTTTTTTTTTTTAGCGT
3' ss Score
11.78
5' ss Seq
CAGGTAACT
5' ss Score
8.63
Exon sequences
Seq C1 exon
AAATACAAAGAGTATGAGAAAGACGTTGCCATAGAAGAAATTGATGGCCTCCAACTGGTAAAGAAGCTGGCAAAGAACATGGAAGAGATGTTTCACAAGAAGTCTGAGGCCGTCAGG
Seq A exon
CGTCTGGTGGAGGCTGCAGAAGAAGCACACCTGAAACATGAATTTGATGCAGACTTACAG
Seq C2 exon
TATGAATACTTCAATGCTGTGCTGATAAATGAAAGGGACAAAGACGGGAATTTTTTGGAGCTGGGAAAGGAATTCATCTTAGCCCCAAATGACCATTTTAATAATTTGCCTGTGAACATCAGTCTAAGTGACGTCCAAGTACCAACGAACATGTACAACAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000157445-'17-18,'17-12,19-18
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
PF083996=VWA_N=PU(12.0=70.0)
C2:
PF083996=VWA_N=FE(46.2=100)


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000415676fB11178


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCAACTGGTAAAGAAGCTGGCA
R:
TGAATTCCTTTCCCAGCTCCA
Band lengths:
143-203
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains