HsaEX1006784 @ hg38
Exon Skipping
Gene
ENSG00000167535 | CACNB3
Description
calcium voltage-gated channel auxiliary subunit beta 3 [Source:HGNC Symbol;Acc:HGNC:1403]
Coordinates
chr12:48818731-48823466:+
Coord C1 exon
chr12:48818731-48818974
Coord A exon
chr12:48819636-48819942
Coord C2 exon
chr12:48823344-48823466
Length
307 bp
Sequences
Splice sites
3' ss Seq
GAGCCCCATCTATTCCACAGCCC
3' ss Score
5.73
5' ss Seq
CCTGTAAGA
5' ss Score
4.07
Exon sequences
Seq C1 exon
GTGGGGGGAGCGGTGATCTGAGCTCCGAGCAGCTGGTCTTCGCGGCTCGCTCCCTCCTTCGCGCTCTCTCGCTCCCTGCCGCCGCCCGCAGGGCTGCGGGGCTCGGTGGCATCTCCCGGGCGCGGCCCGCAGTCCTTGCCCCTGCCTCCGGGCCGCTCCCGCCCCCGGCGCCGCTCGCTCCCCCGACCCGGACTCCCCCATGTATGACGACTCCTACGTGCCCGGGTTTGAGGACTCGGAGGCG
Seq A exon
CCCCCTGCTGAGGCTTCCTCTGCAGCGGGCATCCTGAGCTCTTGCCCAGCATGGAGGGCCTGGAGGTGAGGCCAGAGGAGCTGAGGGCCTGGGGATGGAGAGGAAGCGCTTTGCTCAGAGAAACAGGCAACCGATAAATATTTAATTCTCCTCTTTGCTTTTATCTCCTGACCCACTGAGACAAATCAGCTCATTAAGCAGTGATTCCCGGAGCTCAGACAGCAGGGAGAGTGCCTGGAAAGATGGGGCAAGAATGCGGAGCAGCTTCTCAGCCCCTTGGAGCTGACAACTTTCCCTCAAATGTCCT
Seq C2 exon
GGTTCAGCCGACTCCTACACCAGCCGCCCATCTCTGGACTCAGACGTCTCCCTGGAGGAGGACCGGGAGAGTGCCCGGCGTGAAGTAGAGAGCCAGGCTCAGCAGCAGCTCGAAAGGGCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167535_MULTIEX1-4/4=3-C2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.478 A=0.227 C2=0.920
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF120523=VGCC_beta4Aa_N=PU(93.0=97.6)
Other Inclusion Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGGTGATCTGAGCTCCGAGC
R:
CTTGGCCCTTTCGAGCTGC
Band lengths:
357-664
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains