HsaEX0012067 @ hg38
Exon Skipping
Gene
ENSG00000182389 | CACNB4
Description
calcium voltage-gated channel auxiliary subunit beta 4 [Source:HGNC Symbol;Acc:HGNC:1404]
Coordinates
chr2:151883251-152098413:-
Coord C1 exon
chr2:152098330-152098413
Coord A exon
chr2:151971545-151971704
Coord C2 exon
chr2:151883251-151883370
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-'2-59,'2-51,6-59=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref, Alt. ATG)
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.837 A=0.511 C2=0.838
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF120523=VGCC_beta4Aa_N=PU(92.9=97.5)
Other Inclusion Isoforms:
ENSP00000380490, ENSP00000390161, ENSP00000399242, ENSP00000489818, ENSP00000489883, ENSP00000490124, ENSP00000490138, ENSP00000490176, ENSP00000490247, ENSP00000490249, ENSP00000490250, ENSP00000490252, ENSP00000490276, ENSP00000490430, ENSP00000490443, ENSP00000490488, ENSP00000490607, ENSP00000490651, ENSP00000490795
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
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