HsaEX0056563 @ hg19
Exon Skipping
Gene
ENSG00000196876 | SCN8A
Description
sodium channel, voltage gated, type VIII, alpha subunit [Source:HGNC Symbol;Acc:10596]
Coordinates
chr12:52139687-52156460:+
Coord C1 exon
chr12:52139687-52139819
Coord A exon
chr12:52145139-52145377
Coord C2 exon
chr12:52156287-52156460
Length
239 bp
Sequences
Splice sites
3' ss Seq
TTTGTTCTTACTTACTGTAGAAC
3' ss Score
7.48
5' ss Seq
CTGGTAAGA
5' ss Score
9.45
Exon sequences
Seq C1 exon
GCTACAACTGAGGTGGAAATTAAGAAGAAAGGCCCTGGATCTCTTTTAGTTTCCATGGACCAATTAGCCTCCTACGGGCGGAAGGACAGAATCAACAGTATAATGAGTGTTGTTACAAATACACTAGTAGAAG
Seq A exon
AACTGGAAGAGTCTCAGAGAAAGTGCCCGCCATGCTGGTATAAATTTGCCAACACTTTCCTCATCTGGGAGTGCCACCCCTACTGGATAAAACTGAAAGAGATTGTGAACTTGATAGTTATGGACCCTTTTGTGGATTTAGCCATCACCATCTGCATCGTCCTGAATACACTGTTTATGGCAATGGAGCACCATCCTATGACACCACAATTTGAACATGTCTTGGCTGTAGGAAATCTG
Seq C2 exon
GTTTTCACTGGAATTTTCACAGCGGAAATGTTCCTGAAGCTCATAGCCATGGATCCCTACTATTATTTCCAAGAAGGTTGGAACATTTTTGACGGATTTATTGTCTCCCTCAGTTTAATGGAACTGAGTCTAGCAGACGTGGAGGGGCTTTCAGTGCTGCGATCTTTCCGATTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196876-'17-19,'17-18,18-19
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.022 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF119333=DUF3451=PD(17.0=86.7)
A:
PF0052026=Ion_trans=PU(1.6=3.8)
C2:
PF0052026=Ion_trans=FE(30.0=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GGTGGAAATTAAGAAGAAAGGCCC
R:
ATCGGAAAGATCGCAGCACTG
Band lengths:
294-533
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)