HsaEX6066280 @ hg19
Exon Skipping
Gene
ENSG00000167535 | CACNB3
Description
calcium channel, voltage-dependent, beta 3 subunit [Source:HGNC Symbol;Acc:1403]
Coordinates
chr12:49217464-49218516:+
Coord C1 exon
chr12:49217464-49217586
Coord A exon
chr12:49218041-49218156
Coord C2 exon
chr12:49218452-49218516
Length
116 bp
Sequences
Splice sites
3' ss Seq
CCTGCTCCACCTGCCCCCAGAAG
3' ss Score
9.12
5' ss Seq
CAGGTGAGA
5' ss Score
9.22
Exon sequences
Seq C1 exon
CACAAACCTGTGGCATTTGCGGTGAGGACCAATGTCAGCTACTGTGGCGTACTGGATGAGGAGTGCCCAGTCCAGGGCTCTGGAGTCAACTTTGAGGCCAAAGATTTTCTGCACATTAAAGAG
Seq A exon
AAGTACAGCAATGACTGGTGGATCGGGCGGCTAGTGAAAGAGGGCGGGGACATCGCCTTCATCCCCAGCCCCCAGCGCCTGGAGAGCATCCGGCTCAAACAGGAGCAGAAGGCCAG
Seq C2 exon
GAGATCTGGGAACCCTTCCAGCCTGAGTGACATTGGCAACCGACGCTCCCCTCCGCCATCTCTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167535-'3-4,'3-3,4-4=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=0.024 A=0.231 C2=1.000
Domain overlap (PFAM):
C1:
PF120523=VGCC_beta4Aa_N=PD(2.3=2.4),PF0001823=SH3_1=PU(44.2=46.3)
A:
PF120523=VGCC_beta4Aa_N=PD(2.3=2.6)
C2:
PF0062516=Guanylate_kin=PU(0.1=0.0)
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:
CAAACCTGTGGCATTTGCGG
R:
CTAGAGATGGCGGAGGGGAG
Band lengths:
186-302
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)