Special

HsaEX6087746 @ hg19

Exon Skipping

Gene
ENSG00000165995 | CACNB2
Description
calcium channel, voltage-dependent, beta 2 subunit [Source:HGNC Symbol;Acc:1402]
Coordinates
chr10:18807839-18823156:+
Coord C1 exon
chr10:18807839-18807897
Coord A exon
chr10:18816517-18816626
Coord C2 exon
chr10:18823005-18823156
Length
110 bp
Sequences
Splice sites
3' ss Seq
GTGACTTTTTCCTCCAACAGGAT
3' ss Score
10.46
5' ss Seq
TAGGTAAGT
5' ss Score
9.66
Exon sequences
Seq C1 exon
GTCACAGATATGATGCAAAAAGCGCTGTTTGATTTTTTAAAACACAGATTTGAAGGGCG
Seq A exon
GATATCCATCACAAGGGTCACCGCTGACATCTCGCTTGCCAAACGCTCGGTATTAAACAATCCCAGTAAGCACGCAATAATAGAAAGATCCAACACAAGGTCAAGCTTAG
Seq C2 exon
CGGAAGTTCAGAGTGAAATCGAAAGGATTTTTGAACTTGCAAGAACATTGCAGTTGGTGGTCCTTGACGCGGATACAATTAATCATCCAGCTCAACTCAGTAAAACCTCCTTGGCCCCTATTATAGTATATGTAAAGATTTCTTCTCCTAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165995-'17-19,'17-18,18-19=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=0.000 A=0.158 C2=0.000
Domain overlap (PFAM):

C1:
PF0062516=Guanylate_kin=FE(10.5=100)
A:
PF0062516=Guanylate_kin=FE(20.4=100)
C2:
PF0062516=Guanylate_kin=FE(27.6=100)


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:
GCAAAAAGCGCTGTTTGATTT
R:
ACATATACTATAATAGGGGCCAAGGA
Band lengths:
178-288
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains