Special

HsaEX6087747 @ hg19

Exon Skipping

Gene
ENSG00000165995 | CACNB2
Description
calcium channel, voltage-dependent, beta 2 subunit [Source:HGNC Symbol;Acc:1402]
Coordinates
chr10:18803165-18807897:+
Coord C1 exon
chr10:18803165-18803298
Coord A exon
chr10:18807265-18807345
Coord C2 exon
chr10:18807839-18807897
Length
81 bp
Sequences
Splice sites
3' ss Seq
AGCCTCTCCTCTCTCTGCAGACA
3' ss Score
10.57
5' ss Seq
GAGGTGGGT
5' ss Score
7.07
Exon sequences
Seq C1 exon
CTATAGACATAGATGCTACTGGCTTAGATGCAGAAGAAAATGATATTCCAGCAAACCACCGCTCCCCTAAACCCAGTGCAAACAGTGTAACGTCACCCCACTCCAAAGAGAAAAGAATGCCCTTCTTTAAGAAG
Seq A exon
ACAGAGCACACTCCTCCGTATGATGTGGTACCTTCCATGCGACCAGTGGTCCTAGTGGGCCCTTCTCTGAAGGGCTACGAG
Seq C2 exon
GTCACAGATATGATGCAAAAAGCGCTGTTTGATTTTTTAAAACACAGATTTGAAGGGCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165995-'13-17,'13-16,16-17=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=0.269 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
PF0062516=Guanylate_kin=PU(8.3=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:
TGCTACTGGCTTAGATGCAGA
R:
CGCCCTTCAAATCTGTGTTTT
Band lengths:
180-261
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains