MmuEX0041280 @ mm9
Exon Skipping
Gene
ENSMUSG00000023033 | Scn8a
Description
sodium channel, voltage-gated, type VIII, alpha [Source:MGI Symbol;Acc:MGI:103169]
Coordinates
chr15:100787892-100799673:+
Coord C1 exon
chr15:100787892-100788020
Coord A exon
chr15:100790034-100790125
Coord C2 exon
chr15:100799452-100799673
Length
92 bp
Sequences
Splice sites
3' ss Seq
TGTGACCTCCCTCACTACAGATA
3' ss Score
9.16
5' ss Seq
CAGGTGAGC
5' ss Score
9.6
Exon sequences
Seq C1 exon
GTACACATTCACAGGGATTTACACATTTGAATCACTGGTGAAAATCATCGCCAGAGGTTTCTGCATAGACGGCTTCACCTTCTTACGAGACCCGTGGAACTGGTTAGACTTCAGTGTCATCATGATGGC
Seq A exon
ATATGTGACAGAGTTTGTGGACCTGGGCAATGTCTCAGCGCTGAGAACATTCAGGGTTCTCCGAGCTTTGAAAACTATCTCTGTAATTCCAG
Seq C2 exon
GCCTGAAGACAATCGTGGGCGCCCTCATCCAGTCTGTGAAGAAGCTGTCAGACGTGATGATCCTGACGGTGTTCTGCCTGAGTGTCTTCGCCCTGATTGGCCTGCAGCTCTTCATGGGGAACCTTCGAAACAAGTGTGTCGTGTGGCCCATAAACTTCAACGAGAGCTATCTGGAGAACGGCACCAGAGGCTTCGACTGGGAGGAGTATATCAACAATAAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSMUSG00000023033_MULTIEX1-5/5=3-C2
Average complexity
ME(4-5[99=100])
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=0.000
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=FE(17.1=100)
A:
PF0052026=Ion_trans=FE(12.4=100)
C2:
PF0052026=Ion_trans=FE(29.5=100),PF057587=Ycf1=PU(19.4=70.7)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCTGCATAGACGGCTTCACCT
R:
CCAATCAGGGCGAAGACACTC
Band lengths:
170-262
Functional annotations
There are 1 annotated functions for this event
PMID: 15664175
Mutually exclusive exons 5A and 5N alter voltage-dependent gating and/or interactions with a blocking subunit. From Vuong et al, Nat Rev Neurosci 2016.
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Pre-implantation embryo development
- Neural differentiation time course
- Muscular differentiation time course
- Spermatogenesis cell types
- Reprogramming of fibroblasts to iPSCs
- Hematopoietic precursors and cell types
Other AS DBs: