Special

HsaEX6064481 @ hg19

Exon Skipping

Gene
ENSG00000151062 | CACNA2D4
Description
calcium channel, voltage-dependent, alpha 2/delta subunit 4 [Source:HGNC Symbol;Acc:20202]
Coordinates
chr12:1994153-1995539:-
Coord C1 exon
chr12:1995389-1995539
Coord A exon
chr12:1995131-1995205
Coord C2 exon
chr12:1994153-1994242
Length
75 bp
Sequences
Splice sites
3' ss Seq
TCAACTCACTGCAACTGCAGTAC
3' ss Score
1.82
5' ss Seq
GAGGTGAGT
5' ss Score
10.03
Exon sequences
Seq C1 exon
GTACATTCAAGCTGCTACTTCTCCCAAGGACATAGTGATTTTGGTGGACGTGAGCGGCAGTATGAAGGGGCTGAGGATGACTATTGCCAAGCACACCATCACCACCATCTTGGACACCCTGGGGGAGAATGACTTCATTAATATCATAGCG
Seq A exon
TACAATGACTACGTCCATTACATCGAGCCTTGTTTTAAAGGGATCCTCGTCCAGGCGGACCGAGACAATCGAGAG
Seq C2 exon
CATTTCAAACTGCTGGTGGAGGAGTTGATGGTCAAAGGTGTGGGGGTCGTGGACCAAGCCCTGAGAGAAGCCTTCCAGATCCTGAAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151062-'8-9,'8-8,9-9=AN
Average complexity
A_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:
PF137681=VWA_3=PU(24.7=80.4)
A:
PF137681=VWA_3=FE(14.5=100)
C2:
PF137681=VWA_3=FE(17.5=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
ATGAAGGGGCTGAGGATGACT
R:
TCTGGAAGGCTTCTCTCAGGG
Band lengths:
169-244
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains