Special

HsaEX0012053 @ hg19

Exon Skipping

Gene
ENSG00000067191 | CACNB1
Description
calcium channel, voltage-dependent, beta 1 subunit [Source:HGNC Symbol;Acc:1401]
Coordinates
chr17:37340578-37342825:-
Coord C1 exon
chr17:37342749-37342825
Coord A exon
chr17:37341037-37341117
Coord C2 exon
chr17:37340578-37340636
Length
81 bp
Sequences
Splice sites
3' ss Seq
CTCCCTGCTTCCCCCCCCAGACA
3' ss Score
11.48
5' ss Seq
GAGGTAGGA
5' ss Score
8.24
Exon sequences
Seq C1 exon
CAAATCAGGCGATAACTCCAGTTCCAGTCTGGGAGATGTGGTGACTGGCACCCGCCGCCCCACACCCCCTGCCAGTG
Seq A exon
ACAGAGCATGTGCCCCCCTATGACGTGGTGCCTTCCATGAGGCCCATCATCCTGGTGGGACCGTCGCTCAAGGGCTACGAG
Seq C2 exon
GTTACAGACATGATGCAGAAAGCTTTATTTGACTTCTTGAAGCATCGGTTTGATGGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000067191_MULTIEX1-3/4=C1-4
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=0.167 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
PF0062516=Guanylate_kin=PU(12.0=55.6)
C2:
PF0062516=Guanylate_kin=FE(10.5=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
TCAGGCGATAACTCCAGTTCCA
R:
CATCAAACCGATGCTTCAAGAAGT
Band lengths:
128-209
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