HsaEX6024193 @ hg19
Exon Skipping
Gene
ENSG00000007314 | SCN4A
Description
sodium channel, voltage-gated, type IV, alpha subunit [Source:HGNC Symbol;Acc:10591]
Coordinates
chr17:62022033-62022998:-
Coord C1 exon
chr17:62022720-62022998
Coord A exon
chr17:62022367-62022420
Coord C2 exon
chr17:62022033-62022170
Length
54 bp
Sequences
Splice sites
3' ss Seq
CCCCAACCACACTCTCTCAGGCC
3' ss Score
4.71
5' ss Seq
GAGGTGAGT
5' ss Score
10.03
Exon sequences
Seq C1 exon
GTGGTGGTGAACGCCCTCCTAGGCGCCATCCCCTCCATCATGAATGTGCTGCTTGTCTGCCTCATCTTCTGGCTGATCTTCAGCATCATGGGTGTCAACCTGTTTGCCGGCAAGTTCTACTACTGCATCAACACCACCACCTCTGAGAGGTTCGACATCTCCGAGGTCAACAACAAGTCTGAGTGCGAGAGCCTCATGCACACAGGCCAGGTCCGCTGGCTCAATGTCAAGGTCAACTACGACAACGTGGGTCTGGGCTACCTCTCCCTCCTGCAGGTG
Seq A exon
GCCACCTTCAAGGGTTGGATGGACATCATGTATGCAGCCGTGGACTCCCGGGAG
Seq C2 exon
AAGGAGGAGCAGCCGCAGTACGAGGTGAACCTCTACATGTACCTCTACTTTGTCATCTTCATCATCTTTGGCTCCTTCTTCACCCTCAACCTCTTCATTGGCGTCATCATTGACAACTTCAACCAGCAGAAGAAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000007314-'19-20,'19-19,20-20=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=FE(40.4=100)
A:
PF0052026=Ion_trans=FE(7.5=100)
C2:
PF0052026=Ion_trans=PD(15.4=76.1)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GTCTGGGCTACCTCTCCCTC
R:
CGCCAATGAAGAGGTTGAGGG
Band lengths:
132-186
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)