HsaEX0012051 @ hg38
Exon Skipping
Gene
ENSG00000067191 | CACNB1
Description
calcium voltage-gated channel auxiliary subunit beta 1 [Source:HGNC Symbol;Acc:HGNC:1401]
Coordinates
chr17:39184784-39186572:-
Coord C1 exon
chr17:39186496-39186572
Coord A exon
chr17:39185950-39186104
Coord C2 exon
chr17:39184784-39184864
Length
155 bp
Sequences
Splice sites
3' ss Seq
CTCCTGACTCTCCGGTCCAGGTA
3' ss Score
8.17
5' ss Seq
AAGGTAATT
5' ss Score
8.83
Exon sequences
Seq C1 exon
CAAATCAGGCGATAACTCCAGTTCCAGTCTGGGAGATGTGGTGACTGGCACCCGCCGCCCCACACCCCCTGCCAGTG
Seq A exon
GTAATGAAATGACTAACTTAGCCTTTGAACTAGACCCCCTAGAGTTAGAGGAGGAAGAGGCTGAGCTTGGTGAGCAGAGTGGCTCTGCCAAGACTAGTGTTAGCAGTGTCACCACCCCGCCACCCCATGGCAAACGCATCCCCTTCTTTAAGAAG
Seq C2 exon
ACAGAGCATGTGCCCCCCTATGACGTGGTGCCTTCCATGAGGCCCATCATCCTGGTGGGACCGTCGCTCAAGGGCTACGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000067191_MULTIEX3-1/3=C1-3
Average complexity
C2*
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
Show structural model
Features
Disorder rate (Iupred):
C1=1.000 A=0.846 C2=0.218
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0062516=Guanylate_kin=PU(12.0=55.6)
Other Inclusion 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:
TCAGGCGATAACTCCAGTTCCA
R:
CTCGTAGCCCTTGAGCGAC
Band lengths:
154-309
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development