HsaEX0012069 @ hg19
Exon Skipping
Gene
ENSG00000182389 | CACNB4
Description
calcium channel, voltage-dependent, beta 4 subunit [Source:HGNC Symbol;Acc:1404]
Coordinates
chr2:152722275-152729007:-
Coord C1 exon
chr2:152728931-152729007
Coord A exon
chr2:152727356-152727375
Coord C2 exon
chr2:152722275-152727125
Length
20 bp
Sequences
Splice sites
3' ss Seq
CTCTCGTTATTGTCTTTTAGCAA
3' ss Score
7.97
5' ss Seq
GTGGTAAGT
5' ss Score
10.36
Exon sequences
Seq C1 exon
GAAATCAAGTGGAAATTCTTCTTCAAGTCTTGGAGAAATGGTATCTGGGACATTCCGAGCAACTCCCACATCAACAG
Seq A exon
CAAAACAGAAGCAAAAAGTG
Seq C2 exon
ACGGAGCACATTCCTCCTTACGATGTTGTACCGTCAATGCGTCCGGTGGTGTTAGTGGGGCCGTCACTGAAAGGTTACGAGGTACAAATATCATCTGTTACTCTTCAGTTCTTGATCGAGCACCCAGGAGACAGTCATGTTGACGCTTGCTCCTCAAGGGTCTGTTTCCACGTGGGTCCTGATGGAAGCCAGTGCTCAGCATGGGAAGGCAGGGGGTACCGTGTGGGGCTCATGAGGCCCTCTGCCCTTTCTTTCCTCTCTTGCACACTTCTCATCTTTTATGTATTACATTGTTTAGAAATACCTCCCTCAAAATATTCACAATGGGAAGATCTGGTCAAAGATTTGCTGTACATTAAATGCAAAGAAAAGGACTTTATCTGTCTTGACCATTCTCATTATTATTAGAAGTAATAGAGAATGAACAGCACAAGAGGACAAACAATCAATCTTCCAGCAAACCCAAACCTTTAAAGCCCAAACAGAGTTCACCCTGCTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000182389_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.852 A=1.000 C2=0.111
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0062516=Guanylate_kin=PU(7.4=55.6)
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:
CTGGGACATTCCGAGCAACTC
R:
GTAACCTTTCAGTGACGGCCC
Band lengths:
111-131
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)