HsaEX6055156 @ hg38
Exon Skipping
Gene
ENSG00000183873 | SCN5A
Description
sodium voltage-gated channel alpha subunit 5 [Source:HGNC Symbol;Acc:HGNC:10593]
Coordinates
chr3:38557231-38562537:-
Coord C1 exon
chr3:38562415-38562537
Coord A exon
chr3:38560147-38560428
Coord C2 exon
chr3:38557231-38557284
Length
282 bp
Sequences
Splice sites
3' ss Seq
CACTTCTCTGTCCACTTGAGGTG
3' ss Score
3.75
5' ss Seq
GTGGTAAGT
5' ss Score
10.36
Exon sequences
Seq C1 exon
GTCTCTCTGGTCAGCCTGGTGGCCAACACCCTGGGCTTTGCCGAGATGGGCCCCATCAAGTCACTGCGGACGCTGCGTGCACTCCGTCCTCTGAGAGCTCTGTCACGATTTGAGGGCATGAGG
Seq A exon
GTGGTGGTCAATGCCCTGGTGGGCGCCATCCCGTCCATCATGAACGTCCTCCTCGTCTGCCTCATCTTCTGGCTCATCTTCAGCATCATGGGCGTGAACCTCTTTGCGGGGAAGTTTGGGAGGTGCATCAACCAGACAGAGGGAGACTTGCCTTTGAACTACACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTG
Seq C2 exon
GCAACATTTAAAGGCTGGATGGACATTATGTATGCAGCTGTGGACTCCAGGGGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183873-'31-41,'31-39,33-41=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(17.5=100)
A:
PF0052026=Ion_trans=FE(40.6=100)
C2:
PF0052026=Ion_trans=FE(7.4=100)
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:
GTCTCTCTGGTCAGCCTGGT
R:
CTGGAGTCCACAGCTGCATAC
Band lengths:
173-455
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains