HsaEX6064484 @ hg38
Exon Skipping
Gene
ENSG00000151062 | CACNA2D4
Description
calcium voltage-gated channel auxiliary subunit alpha2delta 4 [Source:HGNC Symbol;Acc:HGNC:20202]
Coordinates
chr12:1882867-1884881:-
Coord C1 exon
chr12:1884768-1884881
Coord A exon
chr12:1884243-1884321
Coord C2 exon
chr12:1882867-1883000
Length
79 bp
Sequences
Splice sites
3' ss Seq
CTCTGTGTCTTGTGGGTTAGGTC
3' ss Score
8.79
5' ss Seq
AAGGTGAGT
5' ss Score
10.47
Exon sequences
Seq C1 exon
TTCCAAGAGGCCAAGCAAGGAAGCCTCTGCAACCAGGCCATCATGCTCATCAGCGACGGCGCCGTGGAGGACTACGAGCCGGTGTTTGAGAAGTATAACTGGCCAGACTGTAAG
Seq A exon
GTCCGAGTTTTCACTTACCTCATTGGGAGAGAAGTGTCTTTTGCTGACCGCATGAAGTGGATTGCATGCAACAACAAAG
Seq C2 exon
GCTACTACACGCAGATCTCAACGCTGGCGGACACCCAGGAGAACGTGATGGAATACCTGCACGTGCTCAGCCGCCCCATGGTCATCAACCACGACCACGACATCATCTGGACAGAGGCCTACATGGACAGCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151062_CASSETTE4
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=0.098
Domain overlap (PFAM):
C1:
PF137681=VWA_3=FE(22.3=100)
A:
PF137681=VWA_3=PD(15.5=92.6)
C2:
PF137681=VWA_3=PD(2.4=8.9),PF0274313=Cache_1=PU(12.1=17.8)
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:
GACTACGAGCCGGTGTTTGAG
R:
CCATGTAGGCCTCTGTCCAGA
Band lengths:
171-250
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains