Special

HsaEX6087745 @ hg19

Exon Skipping

Gene
ENSG00000165995 | CACNB2
Description
calcium channel, voltage-dependent, beta 2 subunit [Source:HGNC Symbol;Acc:1402]
Coordinates
chr10:18816517-18825125:+
Coord C1 exon
chr10:18816517-18816626
Coord A exon
chr10:18823005-18823156
Coord C2 exon
chr10:18825030-18825125
Length
152 bp
Sequences
Splice sites
3' ss Seq
AATTGTTTCGCCCTTTACAGCGG
3' ss Score
8.9
5' ss Seq
AAGGTAAGT
5' ss Score
11
Exon sequences
Seq C1 exon
GATATCCATCACAAGGGTCACCGCTGACATCTCGCTTGCCAAACGCTCGGTATTAAACAATCCCAGTAAGCACGCAATAATAGAAAGATCCAACACAAGGTCAAGCTTAG
Seq A exon
CGGAAGTTCAGAGTGAAATCGAAAGGATTTTTGAACTTGCAAGAACATTGCAGTTGGTGGTCCTTGACGCGGATACAATTAATCATCCAGCTCAACTCAGTAAAACCTCCTTGGCCCCTATTATAGTATATGTAAAGATTTCTTCTCCTAAG
Seq C2 exon
GTTTTACAAAGGTTAATAAAATCTCGAGGGAAATCTCAAGCTAAACACCTCAACGTCCAGATGGTAGCAGCTGATAAACTGGCTCAGTGTCCTCCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165995-'18-20,'18-19,19-20=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.158 A=0.000 C2=0.037
Domain overlap (PFAM):

C1:
PF0062516=Guanylate_kin=FE(20.4=100)
A:
PF0062516=Guanylate_kin=FE(27.6=100)
C2:
PF0062516=Guanylate_kin=FE(17.1=100)


Main Inclusion Isoform:


Main Skipping Isoform:


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:
TATCCATCACAAGGGTCACCG
R:
TGGAGGACACTGAGCCAGTTT
Band lengths:
204-356
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains