HsaEX0012070 @ hg19
Exon Skipping
Gene
ENSG00000182389 | CACNB4
Description
calcium channel, voltage-dependent, beta 4 subunit [Source:HGNC Symbol;Acc:1404]
Coordinates
chr2:152717225-152727125:-
Coord C1 exon
chr2:152727045-152727125
Coord A exon
chr2:152725691-152725749
Coord C2 exon
chr2:152717225-152717334
Length
59 bp
Sequences
Splice sites
3' ss Seq
TTTTTCTCACCTCTGCAAAGGTA
3' ss Score
7.29
5' ss Seq
GAGGTGAGA
5' ss Score
7.66
Exon sequences
Seq C1 exon
ACGGAGCACATTCCTCCTTACGATGTTGTACCGTCAATGCGTCCGGTGGTGTTAGTGGGGCCGTCACTGAAAGGTTACGAG
Seq A exon
GTAACAGACATGATGCAGAAAGCCCTCTTTGATTTCCTGAAGCACAGGTTTGATGGGAG
Seq C2 exon
GATTTCAATAACGAGAGTGACAGCTGACATTTCTCTTGCTAAGAGGTCTGTCCTAAATAATCCCAGCAAGAGAGCAATAATTGAACGTTCGAACACCCGGTCCAGCTTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000182389_MULTIEX1-1/5=C1-2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.111 A=0.000 C2=0.164
Domain overlap (PFAM):
C1:
PF0062516=Guanylate_kin=PU(7.4=55.6)
A:
PF0062516=Guanylate_kin=FE(10.5=100)
C2:
PF0062516=Guanylate_kin=FE(18.2=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:
CAATGCGTCCGGTGGTGTTAG
R:
CCGGGTGTTCGAACGTTCAAT
Band lengths:
147-206
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)