HsaEX6066280 @ hg38
Exon Skipping
Gene
ENSG00000167535 | CACNB3
Description
calcium voltage-gated channel auxiliary subunit beta 3 [Source:HGNC Symbol;Acc:HGNC:1403]
Coordinates
chr12:48823681-48824733:+
Coord C1 exon
chr12:48823681-48823803
Coord A exon
chr12:48824258-48824373
Coord C2 exon
chr12:48824669-48824733
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-'15-33,'15-30,20-33
Average complexity
S
Mappability confidence:
91%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.024 A=0.238 C2=0.954
Domain overlap (PFAM):
C1:
PF120523=VGCC_beta4Aa_N=PD(2.3=2.4)
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
Chicken
(galGal3)
No conservation detected
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