HsaEX6064481 @ hg38
Exon Skipping
Gene
ENSG00000151062 | CACNA2D4
Description
calcium voltage-gated channel auxiliary subunit alpha2delta 4 [Source:HGNC Symbol;Acc:HGNC:20202]
Coordinates
chr12:1884987-1886373:-
Coord C1 exon
chr12:1886223-1886373
Coord A exon
chr12:1885965-1886039
Coord C2 exon
chr12:1884987-1885076
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-'9-17,'9-15,10-17=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 Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
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