Special

HsaEX6066277 @ hg38

Exon Skipping

Gene
ENSG00000167535 | CACNB3
Description
calcium voltage-gated channel auxiliary subunit beta 3 [Source:HGNC Symbol;Acc:HGNC:1403]
Coordinates
chr12:48825434-48828941:+
Coord C1 exon
chr12:48825434-48825492
Coord A exon
chr12:48825660-48825769
Coord C2 exon
chr12:48828662-48828941
Length
110 bp
Sequences
Splice sites
3' ss Seq
ATTCTCCACTCCCACCCCAGGAT
3' ss Score
7.94
5' ss Seq
TTGGTGAGA
5' ss Score
6.29
Exon sequences
Seq C1 exon
GTCACAGACATGATGCAGAAGGCTCTCTTCGACTTCCTCAAACACAGATTTGATGGCAG
Seq A exon
GATCTCCATCACCCGAGTCACAGCCGACCTCTCCCTGGCAAAGCGATCTGTGCTCAACAATCCGGGCAAGAGGACCATCATTGAGCGCTCCTCTGCCCGCTCCAGCATTG
Seq C2 exon
AACTTAGGGGGGCCTCCTTGCCTTTCTCATTCTTTTGCCCTGCATCCTGTCATTTCTGTTCTTGTCCCTCATACATCTTTGGAGAACCGGGCTCCAGACTTTGTTCCCTGACTCATAGCTGCCGCTTGTTAGGTTAGGGTTAGATGGGGAGAGACAGGGCACAGAGGACCTGTCTCCCCGGCTACTCTTGCCTTATGGCTCTAGTGTGTGACCTACAGAGCATGCTCCACAAGCCCCTGCCTCACCTCACTGTCATCACTAATAAACATCATGCACAGTC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167535_MULTIEX2-7/10=6-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.089 C2=0.668
Domain overlap (PFAM):

C1:
PF0062516=Guanylate_kin=FE(10.5=100)
A:
PF0062516=Guanylate_kin=FE(20.4=100)
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CACAGACATGATGCAGAAGGCT
R:
CATAAGGCAAGAGTAGCCGGG
Band lengths:
254-364
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains