HsaEX0056557 @ hg38
Exon Skipping
Gene
ENSG00000183873 | SCN5A
Description
sodium voltage-gated channel alpha subunit 5 [Source:HGNC Symbol;Acc:HGNC:10593]
Coordinates
chr3:38613743-38622489:-
Coord C1 exon
chr3:38622400-38622489
Coord A exon
chr3:38620843-38620971
Coord C2 exon
chr3:38613743-38613834
Length
129 bp
Sequences
Splice sites
3' ss Seq
CACCGGCCTCTCCTGCCCAGGTA
3' ss Score
8.36
5' ss Seq
GGCGTAAGT
5' ss Score
9.39
Exon sequences
Seq C1 exon
GCTCTTCAACATGCTCATCATGTGCACCATCCTCACCAACTGCGTGTTCATGGCCCAGCACGACCCTCCACCCTGGACCAAGTATGTCGA
Seq A exon
GTACACCTTCACCGCCATTTACACCTTTGAGTCTCTGGTCAAGATTCTGGCTCGAGGCTTCTGCCTGCACGCGTTCACTTTCCTTCGGGACCCATGGAACTGGCTGGACTTTAGTGTGATTATCATGGC
Seq C2 exon
ATACACAACTGAATTTGTGGACCTGGGCAATGTCTCAGCCTTACGCACCTTCCGAGTCCTCCGGGCCCTGAAAACTATATCAGTCATTTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183873_MULTIEX1-1/3=C1-3
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=PU(0.8=6.5)
A:
PF0052026=Ion_trans=FE(16.9=100)
C2:
PF0052026=Ion_trans=FE(12.2=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:
TGCTCATCATGTGCACCATCC
R:
TGAAATGACTGATATAGTTTTCAGGG
Band lengths:
170-299
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development