HsaEX0056537 @ hg19
Exon Skipping
Gene
ENSG00000144285 | SCN1A
Description
sodium channel, voltage-gated, type I, alpha subunit [Source:HGNC Symbol;Acc:10585]
Coordinates
chr2:166858982-166866351:-
Coord C1 exon
chr2:166866229-166866351
Coord A exon
chr2:166863740-166863803
Coord C2 exon
chr2:166858982-166859263
Length
64 bp
Sequences
Splice sites
3' ss Seq
TATATTTCTATTTTGTATAGGAT
3' ss Score
7.53
5' ss Seq
TGGGTACTG
5' ss Score
2.97
Exon sequences
Seq C1 exon
GTTTCATTGGTCAGTTTAACAGCAAATGCCTTGGGTTACTCAGAACTTGGAGCCATCAAATCTCTCAGGACACTAAGAGCTCTGAGACCTCTAAGAGCCTTATCTCGATTTGAAGGGATGAGG
Seq A exon
GATAATCTTGCTCCAACTTGGATGGGGTGGAGCGCTGGTTCCTCCCCTGAGCCCTTTATTATGG
Seq C2 exon
GTGGTTGTGAATGCCCTTTTAGGAGCAATTCCATCCATCATGAATGTGCTTCTGGTTTGTCTTATATTCTGGCTAATTTTCAGCATCATGGGCGTAAATTTGTTTGCTGGCAAATTCTACCACTGTATTAACACCACAACTGGTGACAGGTTTGACATCGAAGACGTGAATAATCATACTGATTGCCTAAAACTAATAGAAAGAAATGAGACTGCTCGATGGAAAAATGTGAAAGTAAACTTTGATAATGTAGGATTTGGGTATCTCTCTTTGCTTCAAGTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144285-'23-23,'23-21,24-23
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=FE(17.5=100)
A:
PF0052026=Ion_trans=PD(9.9=40.9)
C2:
PF0052026=Ion_trans=FE(40.6=100)
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACAGCAAATGCCTTGGGTTACT
R:
TGGAATTGCTCCTAAAAGGGCA
Band lengths:
138-202
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- 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)