HsaEX0012048 @ hg38
Exon Skipping
Gene
ENSG00000067191 | CACNB1
Description
calcium voltage-gated channel auxiliary subunit beta 1 [Source:HGNC Symbol;Acc:HGNC:1401]
Coordinates
chr17:39177350-39183864:-
Coord C1 exon
chr17:39183713-39183864
Coord A exon
chr17:39177984-39178079
Coord C2 exon
chr17:39177350-39177535
Length
96 bp
Sequences
Splice sites
3' ss Seq
TTTCTCTCTCCCCAAACCAGGTA
3' ss Score
9.71
5' ss Seq
CCTGTGAGT
5' ss Score
7.21
Exon sequences
Seq C1 exon
CTGAGGTGCAGAGTGAAATCGAGCGAATCTTCGAGCTGGCCCGGACCCTTCAGTTGGTCGCTCTGGATGCTGACACCATCAATCACCCAGCCCAGCTGTCCAAGACCTCGCTGGCCCCCATCATTGTTTACATCAAGATCACCTCTCCCAAG
Seq A exon
GTACTTCAAAGGCTCATCAAGTCCCGAGGAAAGTCTCAGTCCAAACACCTCAATGTCCAAATAGCGGCCTCGGAAAAGCTGGCACAGTGCCCCCCT
Seq C2 exon
GAAATGTTTGACATCATCCTGGATGAGAACCAATTGGAGGATGCCTGCGAGCATCTGGCGGAGTACTTGGAAGCCTATTGGAAGGCCACACACCCGCCCAGCAGCACGCCACCCAATCCGCTGCTGAACCGCACCATGGCTACCGCAGCCCTGGCTGCCAGCCCTGCCCCTGTCTCCAACCTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000067191_MULTIEX1-2/2=C1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.415
Domain overlap (PFAM):
C1:
PF0062516=Guanylate_kin=FE(27.6=100)
A:
PF0062516=Guanylate_kin=FE(17.1=100)
C2:
PF0062516=Guanylate_kin=PD(13.8=40.3)
Main Skipping Isoform:
ENST00000394303fB1284
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACACCATCAATCACCCAGCC
R:
GGTGTGTGGCCTTCCAATAGG
Band lengths:
175-271
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development