HsaEX6055148 @ hg38
Exon Skipping
Gene
ENSG00000183873 | SCN5A
Description
sodium voltage-gated channel alpha subunit 5 [Source:HGNC Symbol;Acc:HGNC:10593]
Coordinates
chr3:38597729-38604083:-
Coord C1 exon
chr3:38603712-38604083
Coord A exon
chr3:38598918-38599050
Coord C2 exon
chr3:38597729-38597967
Length
133 bp
Sequences
Splice sites
3' ss Seq
AATCTCCTGATTGCACTCAGACC
3' ss Score
4.89
5' ss Seq
AAGGTCAGC
5' ss Score
7.09
Exon sequences
Seq C1 exon
AATCATCTCAGCCTCACCCGTGGCCTCAGCAGGACTTCTATGAAGCCACGTTCCAGCCGCGGGAGCATTTTCACCTTTCGCAGGCGAGACCTGGGTTCTGAAGCAGATTTTGCAGATGATGAAAACAGCACAGCGGGGGAGAGCGAGAGCCACCACACATCACTGCTGGTGCCCTGGCCCCTGCGCCGGACCAGTGCCCAGGGACAGCCCAGTCCCGGAACCTCGGCTCCTGGCCACGCCCTCCATGGCAAAAAGAACAGCACTGTGGACTGCAATGGGGTGGTCTCATTACTGGGGGCAGGCGACCCAGAGGCCACATCCCCAGGAAGCCACCTCCTCCGCCCTGTGATGCTAGAGCACCCGCCAGACACG
Seq A exon
ACCACGCCATCGGAGGAGCCAGGCGGGCCCCAGATGCTGACCTCCCAGGCTCCGTGTGTAGATGGCTTCGAGGAGCCAGGAGCACGGCAGCGGGCCCTCAGCGCAGTCAGCGTCCTCACCAGCGCACTGGAAG
Seq C2 exon
AGTTAGAGGAGTCTCGCCACAAGTGTCCACCATGCTGGAACCGTCTCGCCCAGCGCTACCTGATCTGGGAGTGCTGCCCGCTGTGGATGTCCATCAAGCAGGGAGTGAAGTTGGTGGTCATGGACCCGTTTACTGACCTCACCATCACTATGTGCATCGTACTCAACACACTCTTCATGGCGCTGGAGCACTACAACATGACAAGTGAATTCGAGGAGATGCTGCAGGTCGGAAACCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183873-'18-24,'18-23,19-24=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=0.968 A=0.489 C2=0.000
Domain overlap (PFAM):
C1:
PF119333=DUF3451=FE(59.1=100)
A:
PF119333=DUF3451=PD(17.8=82.2)
C2:
PF0052026=Ion_trans=PU(1.6=3.8)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
CTGCAATGGGGTGGTCTCATT
R:
TGGTGAGGTCAGTAAACGGGT
Band lengths:
247-380
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains