HsaEX0056577 @ hg38
Exon Skipping
Gene
ENSG00000196876 | SCN8A
Description
sodium voltage-gated channel alpha subunit 8 [Source:HGNC Symbol;Acc:HGNC:10596]
Coordinates
chr12:51701144-51705623:+
Coord C1 exon
chr12:51701144-51701207
Coord A exon
chr12:51702773-51702914
Coord C2 exon
chr12:51705417-51705623
Length
142 bp
Sequences
Splice sites
3' ss Seq
ACTTCCCTTTCTTTCTTTAGGCA
3' ss Score
11.6
5' ss Seq
TTGGTGAGT
5' ss Score
9.27
Exon sequences
Seq C1 exon
CAAATTTCTACACAGTTCCTGGCATGCTGGAACCTTTACTCTGTGGGAACAGTTCTGATGCTGG
Seq A exon
GCAATGCCCAGAGGGATACCAGTGTATGAAAGCAGGAAGGAACCCCAACTATGGTTACACAAGTTTTGACACTTTTAGCTGGGCCTTCTTGGCATTATTTCGCCTTATGACCCAGGACTATTGGGAAAACTTGTATCAATTG
Seq C2 exon
ACTTTACGAGCAGCCGGGAAAACATACATGATCTTCTTCGTCTTGGTCATCTTTGTGGGTTCTTTCTATCTGGTGAACTTGATCTTGGCTGTGGTGGCCATGGCTTATGAAGAACAGAATCAGGCAACACTGGAGGAGGCAGAACAAAAAGAGGCTGAATTTAAAGCAATGTTGGAGCAACTTAAGAAGCAACAGGAAGAGGCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196876_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.116
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=FE(8.4=100)
A:
PF0052026=Ion_trans=FE(18.7=100)
C2:
PF0052026=Ion_trans=PD(12.4=44.9),PF0310514=SPX=PU(19.3=58.0)
Main Skipping Isoform:
NA
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:
CCTGGCATGCTGGAACCTTTA
R:
CTGTGCCTCTTCCTGTTGCTT
Band lengths:
254-396
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development