HsaEX1006777 @ hg38
Exon Skipping
Gene
ENSG00000067191 | CACNB1
Description
calcium voltage-gated channel auxiliary subunit beta 1 [Source:HGNC Symbol;Acc:HGNC:1401]
Coordinates
chr17:39191474-39194970:-
Coord C1 exon
chr17:39194884-39194970
Coord A exon
chr17:39191975-39192094
Coord C2 exon
chr17:39191474-39191593
Length
120 bp
Sequences
Splice sites
3' ss Seq
CTCCCTCTACCCTTGAACAGAAG
3' ss Score
6.97
5' ss Seq
TCAGCTGAG
5' ss Score
-28.98
Exon sequences
Seq C1 exon
GGCAAATACAGCAAGAGGAAAGGGCGATTCAAACGGTCAGATGGGAGCACGTCCTCGGATACCACATCCAACAGCTTTGTCCGCCAG
Seq A exon
AAGCTGGCAAAATCTGTGGTGGCCCCATCCTGCGGAGCAGGCCGTCCACGGCTGATAGTGCAGAGAGCTCAGGCCGAAGCTGGTGGCTGCAGTCCCTGGAATGGATGCCACTGGACCTCA
Seq C2 exon
GGCTCAGCGGAGTCCTACACCAGCCGTCCATCAGACTCTGATGTATCTCTGGAGGAGGACCGGGAAGCCTTAAGGAAGGAAGCAGAGCGCCAGGCATTAGCGCAGCTCGAGAAGGCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000067191_MULTIEX2-2/2=C1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=0.275 C2=0.917
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF120523=VGCC_beta4Aa_N=PU(92.9=97.5)
Main Inclusion Isoform:
ENST00000394303fB11190
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:
ATACAGCAAGAGGAAAGGGCG
R:
CTTGGCCTTCTCGAGCTGC
Band lengths:
202-322
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains