Special

HsaEX0012024 @ hg19

Exon Skipping

Gene
ENSG00000157445 | CACNA2D3
Description
calcium channel, voltage-dependent, alpha 2/delta subunit 3 [Source:HGNC Symbol;Acc:15460]
Coordinates
chr3:54676155-54798378:+
Coord C1 exon
chr3:54676155-54676268
Coord A exon
chr3:54786626-54786704
Coord C2 exon
chr3:54798245-54798378
Length
79 bp
Sequences
Splice sites
3' ss Seq
TGCGTTTGTCTTCCCTTCAGGTT
3' ss Score
12.03
5' ss Seq
AAGGTGGGT
5' ss Score
8.23
Exon sequences
Seq C1 exon
TTCAACCACACGGGACAAGGAAGTATCTGCAGTCAGGCCATCATGCTCATAACTGATGGGGCGGTGGACACCTATGATACAATCTTTGCAAAATACAATTGGCCAGATCGAAAG
Seq A exon
GTTCGCATCTTCACATACCTCATTGGACGAGAGGCTGCGTTTGCAGACAATCTAAAGTGGATGGCCTGTGCCAACAAAG
Seq C2 exon
GATTTTTTACCCAGATCTCCACCTTGGCTGATGTGCAGGAGAATGTCATGGAATACCTTCACGTGCTTAGCCGGCCCAAAGTCATCGACCAGGAGCATGATGTGGTGTGGACCGAAGCTTACATTGACAGCACT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000157445-'18-21,'18-19,19-21
Average complexity
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:
PF135191=VWA_2=FE(20.6=100)
A:
PF137681=VWA_3=PD(15.5=92.6)
C2:
PF135191=VWA_2=PD(10.6=42.2),PF0274313=Cache_1=PU(8.2=17.8)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
CTCATAACTGATGGGGCGGTG
R:
CACCACATCATGCTCCTGGTC
Band lengths:
176-255
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development