HsaEX0056538 @ hg19
Exon Skipping
Gene
ENSG00000144285 | SCN1A
Description
sodium channel, voltage-gated, type I, alpha subunit [Source:HGNC Symbol;Acc:10585]
Coordinates
chr2:166856233-166866351:-
Coord C1 exon
chr2:166866229-166866351
Coord A exon
chr2:166858982-166859263
Coord C2 exon
chr2:166856233-166856286
Length
282 bp
Sequences
Splice sites
3' ss Seq
TTTTTCCATTTGTGTATTAGGTG
3' ss Score
9.22
5' ss Seq
GTTGTAAGT
5' ss Score
8.3
Exon sequences
Seq C1 exon
GTTTCATTGGTCAGTTTAACAGCAAATGCCTTGGGTTACTCAGAACTTGGAGCCATCAAATCTCTCAGGACACTAAGAGCTCTGAGACCTCTAAGAGCCTTATCTCGATTTGAAGGGATGAGG
Seq A exon
GTGGTTGTGAATGCCCTTTTAGGAGCAATTCCATCCATCATGAATGTGCTTCTGGTTTGTCTTATATTCTGGCTAATTTTCAGCATCATGGGCGTAAATTTGTTTGCTGGCAAATTCTACCACTGTATTAACACCACAACTGGTGACAGGTTTGACATCGAAGACGTGAATAATCATACTGATTGCCTAAAACTAATAGAAAGAAATGAGACTGCTCGATGGAAAAATGTGAAAGTAAACTTTGATAATGTAGGATTTGGGTATCTCTCTTTGCTTCAAGTT
Seq C2 exon
GCCACATTCAAAGGATGGATGGATATAATGTATGCAGCAGTTGATTCCAGAAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144285-'23-25,'23-23,25-25
Average complexity
C1
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=FE(17.5=100)
A:
PF0052026=Ion_trans=FE(40.6=100)
C2:
PF0052026=Ion_trans=FE(7.4=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
ATTGGTCAGTTTAACAGCAAATGCC
R:
ATTTCTGGAATCAACTGCTGCA
Band lengths:
172-454
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)