HsaEX6055147 @ hg38
Exon Skipping
Gene
ENSG00000183873 | SCN5A
Description
sodium voltage-gated channel alpha subunit 5 [Source:HGNC Symbol;Acc:HGNC:10593]
Coordinates
chr3:38598918-38604908:-
Coord C1 exon
chr3:38604729-38604908
Coord A exon
chr3:38603712-38604083
Coord C2 exon
chr3:38598918-38599050
Length
372 bp
Sequences
Splice sites
3' ss Seq
CCCTCTCCTCATGCCCTTAGAAT
3' ss Score
9.59
5' ss Seq
ACGGTGAGC
5' ss Score
9.44
Exon sequences
Seq C1 exon
GCCCTCACCATCAGGGGTGTGGATACCGTGTCCCGTAGCTCCTTGGAGATGTCCCCTTTGGCCCCAGTAAACAGCCATGAGAGAAGAAGCAAGAGGAGAAAACGGATGTCTTCAGGAACTGAGGAGTGTGGGGAGGACAGGCTCCCCAAGTCTGACTCAGAAGATGGTCCCAGAGCAATG
Seq A exon
AATCATCTCAGCCTCACCCGTGGCCTCAGCAGGACTTCTATGAAGCCACGTTCCAGCCGCGGGAGCATTTTCACCTTTCGCAGGCGAGACCTGGGTTCTGAAGCAGATTTTGCAGATGATGAAAACAGCACAGCGGGGGAGAGCGAGAGCCACCACACATCACTGCTGGTGCCCTGGCCCCTGCGCCGGACCAGTGCCCAGGGACAGCCCAGTCCCGGAACCTCGGCTCCTGGCCACGCCCTCCATGGCAAAAAGAACAGCACTGTGGACTGCAATGGGGTGGTCTCATTACTGGGGGCAGGCGACCCAGAGGCCACATCCCCAGGAAGCCACCTCCTCCGCCCTGTGATGCTAGAGCACCCGCCAGACACG
Seq C2 exon
ACCACGCCATCGGAGGAGCCAGGCGGGCCCCAGATGCTGACCTCCCAGGCTCCGTGTGTAGATGGCTTCGAGGAGCCAGGAGCACGGCAGCGGGCCCTCAGCGCAGTCAGCGTCCTCACCAGCGCACTGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183873-'17-23,'17-21,18-23=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.733 A=0.968 C2=0.489
Domain overlap (PFAM):
C1:
PF119333=DUF3451=PU(21.6=75.0)
A:
PF119333=DUF3451=FE(59.1=100)
C2:
PF119333=DUF3451=PD(17.8=82.2)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCATCAGGGGTGTGGATACC
R:
CAGTGCGCTGGTGAGGAC
Band lengths:
303-675
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains