Special

HsaEX0012038 @ hg19

Exon Skipping

Gene
ENSG00000151062 | CACNA2D4
Description
calcium channel, voltage-dependent, alpha 2/delta subunit 4 [Source:HGNC Symbol;Acc:20202]
Coordinates
chr12:1919444-1920889:-
Coord C1 exon
chr12:1920828-1920889
Coord A exon
chr12:1919709-1919753
Coord C2 exon
chr12:1919444-1919506
Length
45 bp
Sequences
Splice sites
3' ss Seq
GTCTCTCCTCTTCCTTCCAGTGC
3' ss Score
10.4
5' ss Seq
AGTGTAAGT
5' ss Score
8.46
Exon sequences
Seq C1 exon
CCGCGGGCGTCCAAATGAAGCTGGAATTCCTCCAGCGCAAATTCTGGGCGGCAACGCGGCAG
Seq A exon
TGCAGCACTGTGGATGGGCCGTGCACACAGAGCTGCGAGGACAGT
Seq C2 exon
GATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151062-'27-29,'27-28,28-29
Average complexity
S
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:
PF045418=Herpes_U34=PU(48.4=93.8)
A:
NO
C2:
PF045418=Herpes_U34=PD(45.2=66.7)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
CGCGGGCGTCCAAATGAAG
R:
CTCTCGGGACCTCTTGGAGAT
Band lengths:
124-169
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development