HsaEX6087746 @ hg38
Exon Skipping
Gene
ENSG00000165995 | CACNB2
Description
calcium voltage-gated channel auxiliary subunit beta 2 [Source:HGNC Symbol;Acc:HGNC:1402]
Coordinates
chr10:18518910-18534227:+
Coord C1 exon
chr10:18518910-18518968
Coord A exon
chr10:18527588-18527697
Coord C2 exon
chr10:18534076-18534227
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-'33-51,'33-50,37-51=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=0.149 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 Skipping Isoform:
ENST00000282343fB11192
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
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