HsaEX0012071 @ hg38
Exon Skipping
Gene
ENSG00000182389 | CACNB4
Description
calcium voltage-gated channel auxiliary subunit beta 4 [Source:HGNC Symbol;Acc:HGNC:1404]
Coordinates
chr2:151855224-151869235:-
Coord C1 exon
chr2:151869177-151869235
Coord A exon
chr2:151860711-151860820
Coord C2 exon
chr2:151855224-151855375
Length
110 bp
Sequences
Splice sites
3' ss Seq
TTCTGTGTTCCTATTCATAGGAT
3' ss Score
10.06
5' ss Seq
TAGGTAAGA
5' ss Score
9.14
Exon sequences
Seq C1 exon
GTAACAGACATGATGCAGAAAGCCCTCTTTGATTTCCTGAAGCACAGGTTTGATGGGAG
Seq A exon
GATTTCAATAACGAGAGTGACAGCTGACATTTCTCTTGCTAAGAGGTCTGTCCTAAATAATCCCAGCAAGAGAGCAATAATTGAACGTTCGAACACCCGGTCCAGCTTAG
Seq C2 exon
CGGAAGTACAAAGTGAAATTGAAAGAATCTTTGAGTTGGCAAGATCTTTGCAACTGGTTGTTCTTGATGCAGACACCATCAATCACCCAGCACAACTTATAAAGACTTCCTTAGCACCAATTATTGTTCATGTAAAAGTCTCATCTCCAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000182389-'27-81,'27-78,32-81=AN
Average complexity
A_NA
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.039 A=0.179 C2=0.006
Domain overlap (PFAM):
C1:
PF0062516=Guanylate_kin=FE(15.2=100)
A:
PF0062516=Guanylate_kin=FE(18.2=100)
C2:
PF0062516=Guanylate_kin=FE(24.6=100)
Other Inclusion Isoforms:
ENSP00000201943, ENSP00000353425, ENSP00000380490, ENSP00000390161, ENSP00000410978, ENSP00000443893, ENSP00000489621, ENSP00000489677, ENSP00000489679, ENSP00000489779, ENSP00000489787, ENSP00000489818, ENSP00000489876, ENSP00000489915, ENSP00000489967, ENSP00000490145, ENSP00000490247, ENSP00000490250, ENSP00000490304, ENSP00000490443, ENSP00000490607, ENSP00000490660, ENSP00000490910
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TAACAGACATGATGCAGAAAGCCC
R:
CTTTGGAGATGAGACTTTTACATGA
Band lengths:
210-320
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