HsaEX6066589 @ hg38
Exon Skipping
Gene
ENSG00000196876 | SCN8A
Description
sodium voltage-gated channel alpha subunit 8 [Source:HGNC Symbol;Acc:HGNC:10596]
Coordinates
chr12:51702773-51706715:+
Coord C1 exon
chr12:51702773-51702914
Coord A exon
chr12:51705417-51705623
Coord C2 exon
chr12:51706422-51706715
Length
207 bp
Sequences
Splice sites
3' ss Seq
AATGGCCTTTGTCTTTGCAGACT
3' ss Score
10.93
5' ss Seq
CAGGTTGGT
5' ss Score
8.08
Exon sequences
Seq C1 exon
GCAATGCCCAGAGGGATACCAGTGTATGAAAGCAGGAAGGAACCCCAACTATGGTTACACAAGTTTTGACACTTTTAGCTGGGCCTTCTTGGCATTATTTCGCCTTATGACCCAGGACTATTGGGAAAACTTGTATCAATTG
Seq A exon
ACTTTACGAGCAGCCGGGAAAACATACATGATCTTCTTCGTCTTGGTCATCTTTGTGGGTTCTTTCTATCTGGTGAACTTGATCTTGGCTGTGGTGGCCATGGCTTATGAAGAACAGAATCAGGCAACACTGGAGGAGGCAGAACAAAAAGAGGCTGAATTTAAAGCAATGTTGGAGCAACTTAAGAAGCAACAGGAAGAGGCACAG
Seq C2 exon
GCTGCTGCGATGGCCACTTCAGCAGGAACTGTCTCAGAAGATGCCATAGAGGAAGAAGGTGAAGAAGGAGGGGGCTCCCCTCGGAGCTCTTCTGAAATCTCTAAACTCAGCTCAAAGAGTGCAAAGGAAAGACGTAACAGGAGAAAGAAGAGGAAGCAAAAGGAACTCTCTGAAGGAGAGGAGAAAGGGGATCCCGAGAAGGTGTTTAAGTCAGAGTCAGAAGATGGCATGAGAAGGAAGGCCTTTCGGCTGCCAGACAACAGAATAGGGAGGAAATTTTCCATCATGAATCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196876-'25-23,'25-22,26-23=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.116 C2=0.898
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=FE(18.7=100)
A:
PF0052026=Ion_trans=PD(12.4=44.9),PF0310514=SPX=PU(19.3=58.0)
C2:
PF0310514=SPX=FE(46.9=100),PF119333=DUF3451=PU(31.3=68.4)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
AGCAGGAAGGAACCCCAACTA
R:
GGGATCCCCTTTCTCCTCTCC
Band lengths:
307-514
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains