HsaEX6022329 @ hg38
Exon Skipping
Gene
ENSG00000067191 | CACNB1
Description
calcium voltage-gated channel auxiliary subunit beta 1 [Source:HGNC Symbol;Acc:HGNC:1401]
Coordinates
chr17:39183713-39184383:-
Coord C1 exon
chr17:39184325-39184383
Coord A exon
chr17:39184031-39184140
Coord C2 exon
chr17:39183713-39183864
Length
110 bp
Sequences
Splice sites
3' ss Seq
CCTCTTGCCCCATTCCCCAGGAT
3' ss Score
9.27
5' ss Seq
TGGGTGAGC
5' ss Score
7.23
Exon sequences
Seq C1 exon
GTTACAGACATGATGCAGAAAGCTTTATTTGACTTCTTGAAGCATCGGTTTGATGGCAG
Seq A exon
GATCTCCATCACTCGTGTGACGGCAGATATTTCCCTGGCTAAGCGCTCAGTTCTCAACAACCCCAGCAAACACATCATCATTGAGCGCTCCAACACACGCTCCAGCCTGG
Seq C2 exon
CTGAGGTGCAGAGTGAAATCGAGCGAATCTTCGAGCTGGCCCGGACCCTTCAGTTGGTCGCTCTGGATGCTGACACCATCAATCACCCAGCCCAGCTGTCCAAGACCTCGCTGGCCCCCATCATTGTTTACATCAAGATCACCTCTCCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000067191-'30-28,'30-27,31-28=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.042 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:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTTACAGACATGATGCAGAAAGCT
R:
TTGGGAGAGGTGATCTTGATGT
Band lengths:
210-320
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains