HsaEX0056567 @ hg19
Exon Skipping
Gene
ENSG00000196876 | SCN8A
Description
sodium channel, voltage gated, type VIII, alpha subunit [Source:HGNC Symbol;Acc:10596]
Coordinates
chr12:52164313-52174555:+
Coord C1 exon
chr12:52164313-52164467
Coord A exon
chr12:52167973-52168146
Coord C2 exon
chr12:52174433-52174555
Length
174 bp
Sequences
Splice sites
3' ss Seq
AGCTGCTGCCTCTCTTTTAGGCC
3' ss Score
9.09
5' ss Seq
GCTGTAGGT
5' ss Score
3.41
Exon sequences
Seq C1 exon
GTTGTGTCCAGCGGTTCAAGTGCTGCCAGGTCAACATCGAGGAAGGGCTAGGCAAGTCTTGGTGGATCCTGCGGAAAACCTGCTTCCTCATCGTGGAGCACAACTGGTTTGAGACCTTCATCATCTTCATGATTCTGCTGAGCAGTGGCGCCCTG
Seq A exon
GCCTTCGAGGACATCTACATTGAGCAGAGAAAGACCATCCGCACCATCCTGGAATATGCTGACAAAGTCTTCACCTATATCTTCATCCTGGAGATGTTGCTCAAGTGGACAGCCTATGGCTTCGTCAAGTTCTTCACCAATGCCTGGTGTTGGCTGGACTTCCTCATTGTGGCT
Seq C2 exon
GTCTCTTTAGTCAGCCTTATAGCTAATGCCCTGGGCTACTCGGAACTAGGTGCCATAAAGTCCCTTAGGACCCTAAGAGCTTTGAGACCCTTAAGAGCCTTATCACGATTTGAAGGGATGAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196876-'24-27,'24-25,25-27
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF065128=Na_trans_assoc=PD(20.2=84.6)
A:
PF0052026=Ion_trans=PU(17.0=67.2)
C2:
PF0052026=Ion_trans=FE(17.4=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
TTGTGTCCAGCGGTTCAAGTG
R:
AGGGTCTCAAAGCTCTTAGGGT
Band lengths:
245-419
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
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)