HsaEX0056575 @ hg19
Exon Skipping
Gene
ENSG00000196876 | SCN8A
Description
sodium channel, voltage gated, type VIII, alpha subunit [Source:HGNC Symbol;Acc:10596]
Coordinates
chr12:52080875-52093575:+
Coord C1 exon
chr12:52080875-52081003
Coord A exon
chr12:52082789-52082880
Coord C2 exon
chr12:52093354-52093575
Length
92 bp
Sequences
Splice sites
3' ss Seq
TGTGACCTCCCTTACTACAGATA
3' ss Score
8.45
5' ss Seq
CAGGTGAGA
5' ss Score
9.22
Exon sequences
Seq C1 exon
GTACACGTTCACAGGGATTTATACATTTGAATCACTAGTGAAAATCATTGCAAGAGGTTTCTGCATAGATGGCTTTACCTTTTTACGGGACCCATGGAACTGGTTAGATTTCAGTGTCATCATGATGGC
Seq A exon
ATATGTGACAGAGTTTGTGGACCTGGGCAATGTCTCAGCGCTGAGAACATTCAGGGTTCTCCGAGCTTTGAAAACTATCTCTGTAATTCCAG
Seq C2 exon
GCCTGAAGACAATTGTGGGTGCCCTGATTCAGTCTGTGAAGAAACTGTCAGATGTGATGATCCTGACAGTGTTCTGCCTGAGTGTTTTTGCCTTGATCGGACTGCAGCTGTTCATGGGGAACCTTCGAAACAAGTGTGTTGTGTGGCCCATAAACTTCAACGAGAGCTATCTTGAAAATGGCACCAAAGGCTTTGATTGGGAAGAGTATATCAACAATAAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196876_MULTIEX1-5/8=3-6
Average complexity
ME(4-5[99=98])
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
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(18.7=68.0)
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCTTTTTACGGGACCCATGG
R:
CATGAACAGCTGCAGTCCGAT
Band lengths:
169-261
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
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)