HsaEX0012039 @ hg38
Exon Skipping
Gene
ENSG00000151062 | CACNA2D4
Description
calcium voltage-gated channel auxiliary subunit alpha2delta 4 [Source:HGNC Symbol;Acc:HGNC:20202]
Coordinates
chr12:1801043-1810340:-
Coord C1 exon
chr12:1810278-1810340
Coord A exon
chr12:1801574-1801644
Coord C2 exon
chr12:1801043-1801118
Length
71 bp
Sequences
Splice sites
3' ss Seq
CTGCTGTCCCTCTCTCACAGACG
3' ss Score
11.23
5' ss Seq
CCAGTAAGT
5' ss Score
9.09
Exon sequences
Seq C1 exon
GATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAG
Seq A exon
ACGGGAAGATTTCTGGGGGAGGTGGATGGTGCTGTCCTGACCCAGCTGCTCAGCATGGGGGTGTTCAGCCA
Seq C2 exon
AGTGACTATGTATGACTATCAGGCCATGTGCAAACCCTCGAGTCACCACCACAGTGCAGCCCAGCCCCTGGTCAGC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151062_CASSETTE2
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=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Other Inclusion Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GATCTGGACTGCTTCGTCATCG
R:
CTGGGCTGCACTGTGGTG
Band lengths:
127-198
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development