HsaEX0012038 @ hg38
Exon Skipping
Gene
ENSG00000151062 | CACNA2D4
Description
calcium voltage-gated channel auxiliary subunit alpha2delta 4 [Source:HGNC Symbol;Acc:HGNC:20202]
Coordinates
chr12:1810278-1811723:-
Coord C1 exon
chr12:1811662-1811723
Coord A exon
chr12:1810543-1810582
Coord C2 exon
chr12:1810278-1810340
Length
40 bp
Sequences
Splice sites
3' ss Seq
TCCTCTTCCTTCCAGTGCAGCAC
3' ss Score
6.13
5' ss Seq
AGTGTAAGT
5' ss Score
8.46
Exon sequences
Seq C1 exon
CCGCGGGCGTCCAAATGAAGCTGGAATTCCTCCAGCGCAAATTCTGGGCGGCAACGCGGCAG
Seq A exon
CACTGTGGATGGGCCGTGCACACAGAGCTGCGAGGACAGT
Seq C2 exon
GATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000151062-'46-71,'46-70,47-71
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
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
Main Inclusion Isoform:
ENST00000538450fB1283
Other Inclusion Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGCGGGCGTCCAAATGAAG
R:
CTCTCGGGACCTCTTGGAGAT
Band lengths:
124-164
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development