Special

HsaEX6087748 @ hg38

Exon Skipping

Gene
ENSG00000165995 | CACNB2
Description
calcium voltage-gated channel auxiliary subunit beta 2 [Source:HGNC Symbol;Acc:HGNC:1402]
Coordinates
chr10:18500812-18514369:+
Coord C1 exon
chr10:18500812-18500948
Coord A exon
chr10:18506471-18506547
Coord C2 exon
chr10:18514236-18514369
Length
77 bp
Sequences
Splice sites
3' ss Seq
AAATTTTTGCTTTACTCCAGTAA
3' ss Score
5.15
5' ss Seq
CTGGTAAGT
5' ss Score
10.65
Exon sequences
Seq C1 exon
AAATTTAACAATGACTGGTGGATAGGGCGATTGGTAAAAGAAGGCTGTGAAATCGGATTCATTCCAAGCCCAGTCAAACTAGAAAACATGAGGCTGCAGCATGAACAGAGAGCCAAGCAAGGGAAATTCTACTCCAG
Seq A exon
TAAATCAGGAGGAAATTCATCATCCAGTTTGGGTGACATAGTACCTAGTTCCAGAAAATCAACACCTCCATCATCTG
Seq C2 exon
CTATAGACATAGATGCTACTGGCTTAGATGCAGAAGAAAATGATATTCCAGCAAACCACCGCTCCCCTAAACCCAGTGCAAACAGTGTAACGTCACCCCACTCCAAAGAGAAAAGAATGCCCTTCTTTAAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165995-'23-39,'23-35,24-39
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.366 A=0.821 C2=1.000
Domain overlap (PFAM):

C1:
PF0001823=SH3_1=PD(51.2=47.8)
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGGATTCATTCCAAGCCCAGT
R:
TGTTTGCACTGGGTTTAGGGG
Band lengths:
168-245
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains