Special

HsaEX0012056 @ hg19

Exon Skipping

Gene
ENSG00000165995 | CACNB2
Description
calcium channel, voltage-dependent, beta 2 subunit [Source:HGNC Symbol;Acc:1402]
Coordinates
chr10:18823005-18827294:+
Coord C1 exon
chr10:18823005-18823156
Coord A exon
chr10:18825030-18825125
Coord C2 exon
chr10:18827109-18827294
Length
96 bp
Sequences
Splice sites
3' ss Seq
AAACTCATTATCTTTTACAGGTT
3' ss Score
8.08
5' ss Seq
CCAGTAAGT
5' ss Score
9.09
Exon sequences
Seq C1 exon
CGGAAGTTCAGAGTGAAATCGAAAGGATTTTTGAACTTGCAAGAACATTGCAGTTGGTGGTCCTTGACGCGGATACAATTAATCATCCAGCTCAACTCAGTAAAACCTCCTTGGCCCCTATTATAGTATATGTAAAGATTTCTTCTCCTAAG
Seq A exon
GTTTTACAAAGGTTAATAAAATCTCGAGGGAAATCTCAAGCTAAACACCTCAACGTCCAGATGGTAGCAGCTGATAAACTGGCTCAGTGTCCTCCA
Seq C2 exon
GAGCTGTTCGATGTGATCTTGGATGAGAACCAGCTTGAGGATGCCTGTGAGCACCTTGCCGACTATCTGGAGGCCTACTGGAAGGCCACCCATCCTCCCAGCAGTAGCCTCCCCAACCCTCTCCTTAGCCGTACATTAGCCACTTCAAGTCTGCCTCTTAGCCCCACCCTAGCCTCTAATTCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165995-'19-21,'19-20,20-21
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.037 C2=0.477
Domain overlap (PFAM):

C1:
PF0062516=Guanylate_kin=FE(27.6=100)
A:
PF0062516=Guanylate_kin=FE(17.1=100)
C2:
PF0062516=Guanylate_kin=PD(13.8=40.3),PF068127=ImpA-rel_N=WD(100=45.2)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGTAAAACCTCCTTGGCCCCT
R:
CTAAGGAGAGGGTTGGGGAGG
Band lengths:
182-278
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