HsaEX6055149 @ hg38
Exon Skipping
Gene
ENSG00000183873 | SCN5A
Description
sodium voltage-gated channel alpha subunit 5 [Source:HGNC Symbol;Acc:HGNC:10593]
Coordinates
chr3:38587400-38599050:-
Coord C1 exon
chr3:38598918-38599050
Coord A exon
chr3:38597729-38597967
Coord C2 exon
chr3:38587400-38587573
Length
239 bp
Sequences
Splice sites
3' ss Seq
CTCATTGGCTGTCCCCTCAGAGT
3' ss Score
8.1
5' ss Seq
CTGGTAAGG
5' ss Score
9.68
Exon sequences
Seq C1 exon
ACCACGCCATCGGAGGAGCCAGGCGGGCCCCAGATGCTGACCTCCCAGGCTCCGTGTGTAGATGGCTTCGAGGAGCCAGGAGCACGGCAGCGGGCCCTCAGCGCAGTCAGCGTCCTCACCAGCGCACTGGAAG
Seq A exon
AGTTAGAGGAGTCTCGCCACAAGTGTCCACCATGCTGGAACCGTCTCGCCCAGCGCTACCTGATCTGGGAGTGCTGCCCGCTGTGGATGTCCATCAAGCAGGGAGTGAAGTTGGTGGTCATGGACCCGTTTACTGACCTCACCATCACTATGTGCATCGTACTCAACACACTCTTCATGGCGCTGGAGCACTACAACATGACAAGTGAATTCGAGGAGATGCTGCAGGTCGGAAACCTG
Seq C2 exon
GTCTTCACAGGGATTTTCACAGCAGAGATGACCTTCAAGATCATTGCCCTCGACCCCTACTACTACTTCCAACAGGGCTGGAACATCTTCGACAGCATCATCGTCATCCTTAGCCTCATGGAGCTGGGCCTGTCCCGCATGAGCAACTTGTCGGTGCTGCGCTCCTTCCGCCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183873-'19-25,'19-24,20-25=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.489 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF119333=DUF3451=PD(17.8=82.2)
A:
PF0052026=Ion_trans=PU(1.6=3.8)
C2:
PF0052026=Ion_trans=FE(30.3=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
ACCACGCCATCGGAGGAG
R:
CAGCACCGACAAGTTGCTCAT
Band lengths:
292-531
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains