HsaEX0056574 @ hg38
Exon Skipping
Gene
ENSG00000196876 | SCN8A
Description
sodium voltage-gated channel alpha subunit 8 [Source:HGNC Symbol;Acc:HGNC:10596]
Coordinates
chr12:51687091-51699791:+
Coord C1 exon
chr12:51687091-51687219
Coord A exon
chr12:51688758-51688849
Coord C2 exon
chr12:51699570-51699791
Length
92 bp
Sequences
Splice sites
3' ss Seq
ACTTTGGTTTGATTCTGCAGGTA
3' ss Score
9.14
5' ss Seq
CAGGTAAGA
5' ss Score
10.77
Exon sequences
Seq C1 exon
GTACACGTTCACAGGGATTTATACATTTGAATCACTAGTGAAAATCATTGCAAGAGGTTTCTGCATAGATGGCTTTACCTTTTTACGGGACCCATGGAACTGGTTAGATTTCAGTGTCATCATGATGGC
Seq A exon
GTATATAACAGAGTTTGTAAACCTAGGCAATGTTTCAGCTCTACGCACTTTCAGGGTACTGAGGGCTTTGAAAACTATTTCGGTAATCCCAG
Seq C2 exon
GCCTGAAGACAATTGTGGGTGCCCTGATTCAGTCTGTGAAGAAACTGTCAGATGTGATGATCCTGACAGTGTTCTGCCTGAGTGTTTTTGCCTTGATCGGACTGCAGCTGTTCATGGGGAACCTTCGAAACAAGTGTGTTGTGTGGCCCATAAACTTCAACGAGAGCTATCTTGAAAATGGCACCAAAGGCTTTGATTGGGAAGAGTATATCAACAATAAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196876-'17-19,'17-13,18-19
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show structural model
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)
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