HsaEX6016397 @ hg19
Exon Skipping
Gene
ENSG00000144285 | SCN1A
Description
sodium channel, voltage-gated, type I, alpha subunit [Source:HGNC Symbol;Acc:10585]
Coordinates
chr2:166909362-166913008:-
Coord C1 exon
chr2:166912921-166913008
Coord A exon
chr2:166911148-166911276
Coord C2 exon
chr2:166909362-166909453
Length
129 bp
Sequences
Splice sites
3' ss Seq
TTTTGGATGCTTGTTTTCAGATA
3' ss Score
7.87
5' ss Seq
TGCGTAAGT
5' ss Score
9.73
Exon sequences
Seq C1 exon
TATTCAGCATGCTAATTATGTGCACTATTTTGACAAACTGTGTGTTTATGACAATGAGTAACCCTCCTGATTGGACAAAGAATGTAGA
Seq A exon
ATACACCTTCACAGGAATATATACTTTTGAATCACTTATAAAAATTATTGCAAGGGGATTCTGTTTAGAAGATTTTACTTTCCTTCGGGATCCATGGAACTGGCTCGATTTCACTGTCATTACATTTGC
Seq C2 exon
GTACGTCACAGAGTTTGTGGACCTGGGCAATGTCTCGGCATTGAGAACATTCAGAGTTCTCCGAGCATTGAAGACGATTTCAGTCATTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144285-'4-5,'4-4,5-5=AN
Average complexity
A_S
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:
PF0052026=Ion_trans=PU(0.7=6.5)
A:
PF0052026=Ion_trans=FE(16.1=100)
C2:
PF0052026=Ion_trans=FE(11.6=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
TTCAGCATGCTAATTATGTGCACT
R:
CTGGAATGACTGAAATCGTCTTCA
Band lengths:
178-307
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
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)