HsaEX0012036 @ hg38
Exon Skipping
Gene
ENSG00000157445 | CACNA2D3
Description
calcium voltage-gated channel auxiliary subunit alpha2delta 3 [Source:HGNC Symbol;Acc:HGNC:15460]
Coordinates
chr3:54764218-54838648:+
Coord C1 exon
chr3:54764218-54764351
Coord A exon
chr3:54837159-54837230
Coord C2 exon
chr3:54838568-54838648
Length
72 bp
Sequences
Splice sites
3' ss Seq
GGCTTTTCTCTTCCATCCAGCTG
3' ss Score
8.89
5' ss Seq
ACCGTGAGT
5' ss Score
9.4
Exon sequences
Seq C1 exon
GATTTTTTACCCAGATCTCCACCTTGGCTGATGTGCAGGAGAATGTCATGGAATACCTTCACGTGCTTAGCCGGCCCAAAGTCATCGACCAGGAGCATGATGTGGTGTGGACCGAAGCTTACATTGACAGCACT
Seq A exon
CTGACTGATGATCAGGGCCCCGTCCTGATGACCACTGTAGCCATGCCTGTGTTTAGTAAGCAGAACGAAACC
Seq C2 exon
AGATCGAAGGGCATTCTTCTGGGAGTGGTTGGCACAGATGTCCCAGTGAAAGAACTTCTGAAGACCATCCCCAAATACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000157445_MULTIEX2-2/2=C1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
Show structural model
Features
Disorder rate (Iupred):
C1=0.000 A=0.011 C2=0.000
Domain overlap (PFAM):
C1:
PF135191=VWA_2=PD(10.6=42.2),PF0274313=Cache_1=PU(8.2=17.8)
A:
PF0274313=Cache_1=FE(23.5=100)
C2:
PF0274313=Cache_1=FE(26.5=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:
TACCCAGATCTCCACCTTGGC
R:
GACATCTGTGCCAACCACTCC
Band lengths:
169-241
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