HsaEX0012067 @ hg19
Exon Skipping
Gene
ENSG00000182389 | CACNB4
Description
calcium channel, voltage-dependent, beta 4 subunit [Source:HGNC Symbol;Acc:1404]
Coordinates
chr2:152739765-152954927:-
Coord C1 exon
chr2:152954844-152954927
Coord A exon
chr2:152828059-152828218
Coord C2 exon
chr2:152739765-152739884
Length
160 bp
Sequences
Splice sites
3' ss Seq
AGTTTATTTGTTTTTATAAGGAA
3' ss Score
5.4
5' ss Seq
GCTGTAAGT
5' ss Score
8.56
Exon sequences
Seq C1 exon
GTGGCCCGAGGCACCACAACCCGGAGGAGCAGGTTGAAAAGATCCGATGGCAGCACCACTTCGACCAGCTTCATCCTCAGACAG
Seq A exon
GAAGAATAATGTGATGTGTTACCCAAGATGGTGTGAACAGAGCTTCAAGCCAATGGAGAAGACTAGGCCTAAATAGCTGACCTGGTGAAGTGACACATAAAGCCACACCTGGAGTGCCACCTCCTCAGCAGTCTTTCTCAGTGCCAATGCATTTATGGCT
Seq C2 exon
GGTTCAGCGGATTCCTACACAAGCAGGCCGTCTGACTCCGATGTCTCTTTGGAAGAGGACCGGGAAGCAATTCGACAGGAGAGAGAACAGCAAGCAGCTATCCAGCTTGAGAGAGCAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000182389-'2-9,'2-7,5-9
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref, Alt. ATG)
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.845 A=0.667 C2=0.828
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF120523=VGCC_beta4Aa_N=PU(92.9=97.5),PF0073614=EF1_GNE=PU(49.3=85.0),PF144761=Chloroplast_duf=PU(38.8=77.5)
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGGCACCACAACCCGGAG
R:
CTTTGCTCTCTCAAGCTGGAT
Band lengths:
197-357
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)