HsaEX6064483 @ hg38
Exon Skipping
Gene
ENSG00000151062 | CACNA2D4
Description
calcium voltage-gated channel auxiliary subunit alpha2delta 4 [Source:HGNC Symbol;Acc:HGNC:20202]
Coordinates
chr12:1884243-1885076:-
Coord C1 exon
chr12:1884987-1885076
Coord A exon
chr12:1884768-1884881
Coord C2 exon
chr12:1884243-1884321
Length
114 bp
Sequences
Splice sites
3' ss Seq
CACTCCTCTTCCCTACACAGTTC
3' ss Score
8.76
5' ss Seq
AAGGTGACC
5' ss Score
6.78
Exon sequences
Seq C1 exon
CATTTCAAACTGCTGGTGGAGGAGTTGATGGTCAAAGGTGTGGGGGTCGTGGACCAAGCCCTGAGAGAAGCCTTCCAGATCCTGAAGCAG
Seq A exon
TTCCAAGAGGCCAAGCAAGGAAGCCTCTGCAACCAGGCCATCATGCTCATCAGCGACGGCGCCGTGGAGGACTACGAGCCGGTGTTTGAGAAGTATAACTGGCCAGACTGTAAG
Seq C2 exon
GTCCGAGTTTTCACTTACCTCATTGGGAGAGAAGTGTCTTTTGCTGACCGCATGAAGTGGATTGCATGCAACAACAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151062-'11-20,'11-18,14-20=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=FE(17.5=100)
A:
PF137681=VWA_3=FE(22.3=100)
C2:
PF137681=VWA_3=PD(15.5=92.6)
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:
TTCAAACTGCTGGTGGAGGAG
R:
TGTTGTTGCATGCAATCCACT
Band lengths:
163-277
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains