HsaEX6016022 @ hg19
Exon Skipping
Gene
ENSG00000182389 | CACNB4
Description
calcium channel, voltage-dependent, beta 4 subunit [Source:HGNC Symbol;Acc:1404]
Coordinates
chr2:152728931-152737436:-
Coord C1 exon
chr2:152737314-152737436
Coord A exon
chr2:152732940-152733070
Coord C2 exon
chr2:152728931-152729007
Length
131 bp
Sequences
Splice sites
3' ss Seq
ATTTTATTTCTGAATTCCAGAAA
3' ss Score
7.39
5' ss Seq
AGGGTACGT
5' ss Score
9.15
Exon sequences
Seq C1 exon
TCCAAACCTGTAGCATTTGCCGTGAAGACAAATGTGAGCTACTGCGGCGCCCTGGACGAGGATGTGCCTGTTCCAAGCACAGCTATCTCCTTTGATGCTAAAGACTTTCTACATATTAAAGAG
Seq A exon
AAATATAACAATGATTGGTGGATAGGAAGGCTGGTGAAAGAGGGCTGTGAAATTGGCTTCATTCCAAGTCCACTCAGATTGGAGAACATACGGATCCAGCAAGAACAAAAAAGAGGACGTTTTCACGGAGG
Seq C2 exon
GAAATCAAGTGGAAATTCTTCTTCAAGTCTTGGAGAAATGGTATCTGGGACATTCCGAGCAACTCCCACATCAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000182389-'9-12,'9-11,11-12=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.222 C2=0.852
Domain overlap (PFAM):
C1:
PF120523=VGCC_beta4Aa_N=PD(2.4=2.4),PF0073614=EF1_GNE=PD(47.8=80.5),PF144761=Chloroplast_duf=FE(50.0=100),PF0001823=SH3_1=PU(44.2=46.3)
A:
PF0001823=SH3_1=PD(51.2=50.0)
C2:
NO
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:
ACCTGTAGCATTTGCCGTGAA
R:
TGTTGATGTGGGAGTTGCTCG
Band lengths:
194-325
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
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)