Special

HsaEX0012060 @ hg19

Exon Skipping

Gene
ENSG00000165995 | CACNB2
Description
calcium channel, voltage-dependent, beta 2 subunit [Source:HGNC Symbol;Acc:1402]
Coordinates
chr10:18795400-18807345:+
Coord C1 exon
chr10:18795400-18795476
Coord A exon
chr10:18803440-18803459
Coord C2 exon
chr10:18807265-18807345
Length
20 bp
Sequences
Splice sites
3' ss Seq
TCTTTTCCATGCTGCTGTAGCTA
3' ss Score
7.08
5' ss Seq
TCGGTAAGT
5' ss Score
11.78
Exon sequences
Seq C1 exon
TAAATCAGGAGGAAATTCATCATCCAGTTTGGGTGACATAGTACCTAGTTCCAGAAAATCAACACCTCCATCATCTG
Seq A exon
CTAAGCAGAAGCAGAAATCG
Seq C2 exon
ACAGAGCACACTCCTCCGTATGATGTGGTACCTTCCATGCGACCAGTGGTCCTAGTGGGCCCTTCTCTGAAGGGCTACGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165995_MULTIEX1-2/3=C1-C2
Average complexity
ME(1-2[99=100])
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.838 A=1.000 C2=0.269
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF0062516=Guanylate_kin=PU(8.3=55.6)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCCAGTTTGGGTGACATAGTACCT
R:
CACTGGTCGCATGGAAGGTAC
Band lengths:
103-123
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