HsaEX6087749 @ hg38
Exon Skipping
Gene
ENSG00000165995 | CACNB2
Description
calcium voltage-gated channel auxiliary subunit beta 2 [Source:HGNC Symbol;Acc:HGNC:1402]
Coordinates
chr10:18498355-18506547:+
Coord C1 exon
chr10:18498355-18498477
Coord A exon
chr10:18500812-18500948
Coord C2 exon
chr10:18506471-18506547
Length
137 bp
Sequences
Splice sites
3' ss Seq
GCTTTTGATTTTGTGTTTAGAAA
3' ss Score
6.5
5' ss Seq
CAGGTATGA
5' ss Score
9.46
Exon sequences
Seq C1 exon
ACAAAGCCCGTTGCATTTGCGGTTCGGACAAATGTCAGCTACAGTGCGGCCCATGAAGATGATGTTCCAGTGCCTGGCATGGCCATCTCATTCGAAGCAAAAGATTTTCTGCATGTTAAGGAA
Seq A exon
AAATTTAACAATGACTGGTGGATAGGGCGATTGGTAAAAGAAGGCTGTGAAATCGGATTCATTCCAAGCCCAGTCAAACTAGAAAACATGAGGCTGCAGCATGAACAGAGAGCCAAGCAAGGGAAATTCTACTCCAG
Seq C2 exon
TAAATCAGGAGGAAATTCATCATCCAGTTTGGGTGACATAGTACCTAGTTCCAGAAAATCAACACCTCCATCATCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165995-'19-35,'19-33,23-35
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.120 A=0.366 C2=0.821
Domain overlap (PFAM):
C1:
PF120523=VGCC_beta4Aa_N=PD(2.4=2.4),PF0062516=Guanylate_kin=PU(7.8=12.2)
A:
PF0001823=SH3_1=PD(51.2=47.8)
C2:
NO
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACAAAGCCCGTTGCATTTGC
R:
TGATGGAGGTGTTGATTTTCTGGA
Band lengths:
196-333
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains