HsaEX0012059 @ hg38
Exon Skipping
Gene
ENSG00000165995 | CACNB2
Description
calcium voltage-gated channel auxiliary subunit beta 2 [Source:HGNC Symbol;Acc:HGNC:1402]
Coordinates
chr10:18506471-18518416:+
Coord C1 exon
chr10:18506471-18506547
Coord A exon
chr10:18514236-18514369
Coord C2 exon
chr10:18518336-18518416
Length
134 bp
Sequences
Splice sites
3' ss Seq
TTTGAATTGTCTGTATATAGCTA
3' ss Score
4.9
5' ss Seq
AAGGTAACA
5' ss Score
8.92
Exon sequences
Seq C1 exon
TAAATCAGGAGGAAATTCATCATCCAGTTTGGGTGACATAGTACCTAGTTCCAGAAAATCAACACCTCCATCATCTG
Seq A exon
CTATAGACATAGATGCTACTGGCTTAGATGCAGAAGAAAATGATATTCCAGCAAACCACCGCTCCCCTAAACCCAGTGCAAACAGTGTAACGTCACCCCACTCCAAAGAGAAAAGAATGCCCTTCTTTAAGAAG
Seq C2 exon
ACAGAGCACACTCCTCCGTATGATGTGGTACCTTCCATGCGACCAGTGGTCCTAGTGGGCCCTTCTCTGAAGGGCTACGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165995_MULTIEX1-1/3=C1-C2
Average complexity
ME(1-2[97=100])
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.821 A=1.000 C2=0.271
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0062516=Guanylate_kin=PU(38.5=55.6)
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGGAAATTCATCATCCAGTTTGGGT
R:
CTCGTAGCCCTTCAGAGAAG
Band lengths:
149-283
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