HsaEX0056539 @ hg19
Exon Skipping
Gene
ENSG00000144285 | SCN1A
Description
sodium channel, voltage-gated, type I, alpha subunit [Source:HGNC Symbol;Acc:10585]
Coordinates
chr2:166908229-166911276:-
Coord C1 exon
chr2:166911148-166911276
Coord A exon
chr2:166909362-166909453
Coord C2 exon
chr2:166908229-166908498
Length
92 bp
Sequences
Splice sites
3' ss Seq
GTGTGAACTCCCTATTACAGGTA
3' ss Score
8.7
5' ss Seq
CAGGTGAGA
5' ss Score
9.22
Exon sequences
Seq C1 exon
ATACACCTTCACAGGAATATATACTTTTGAATCACTTATAAAAATTATTGCAAGGGGATTCTGTTTAGAAGATTTTACTTTCCTTCGGGATCCATGGAACTGGCTCGATTTCACTGTCATTACATTTGC
Seq A exon
GTACGTCACAGAGTTTGTGGACCTGGGCAATGTCTCGGCATTGAGAACATTCAGAGTTCTCCGAGCATTGAAGACGATTTCAGTCATTCCAG
Seq C2 exon
GCCTGAAAACCATTGTGGGAGCCCTGATCCAGTCTGTGAAGAAGCTCTCAGATGTAATGATCCTGACTGTGTTCTGTCTGAGCGTATTTGCTCTAATTGGGCTGCAGCTGTTCATGGGCAACCTGAGGAATAAATGTATACAATGGCCTCCCACCAATGCTTCCTTGGAGGAACATAGTATAGAAAAGAATATAACTGTGAATTATAATGGTACACTTATAAATGAAACTGTCTTTGAGTTTGACTGGAAGTCATATATTCAAGATTCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144285_CASSETTE3
Average complexity
S
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(16.1=100)
A:
PF0052026=Ion_trans=FE(11.6=100)
C2:
PF0052026=Ion_trans=FE(33.7=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCCTTCGGGATCCATGGAACT
R:
CCTCAGGTTGCCCATGAACAG
Band lengths:
177-269
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)