HsaEX6055152 @ hg38
Exon Skipping
Gene
ENSG00000183873 | SCN5A
Description
sodium voltage-gated channel alpha subunit 5 [Source:HGNC Symbol;Acc:HGNC:10593]
Coordinates
chr3:38575297-38579495:-
Coord C1 exon
chr3:38579334-38579495
Coord A exon
chr3:38576661-38576781
Coord C2 exon
chr3:38575297-38575451
Length
121 bp
Sequences
Splice sites
3' ss Seq
TCCCACACCCCTGTCCATAGACC
3' ss Score
7.79
5' ss Seq
AAGGTAATG
5' ss Score
8.99
Exon sequences
Seq C1 exon
CAGGAATCCCAGCCTGTGTCCGGTGGCCCAGAGGCCCCTCCGGATTCCAGGACCTGGAGCCAGGTGTCAGCGACTGCCTCCTCTGAGGCCGAGGCCAGTGCATCTCAGGCCGACTGGCGGCAGCAGTGGAAAGCGGAACCCCAGGCCCCAGGGTGCGGTGAG
Seq A exon
ACCCCAGAGGACAGTTGCTCCGAGGGCAGCACAGCAGACATGACCAACACCGCTGAGCTCCTGGAGCAGATCCCTGACCTCGGCCAGGATGTCAAGGACCCAGAGGACTGCTTCACTGAAG
Seq C2 exon
GCTGTGTCCGGCGCTGTCCCTGCTGTGCGGTGGACACCACACAGGCCCCAGGGAAGGTCTGGTGGCGGTTGCGCAAGACCTGCTACCACATCGTGGAGCACAGCTGGTTCGAGACATTCATCATCTTCATGATCCTACTCAGCAGTGGAGCGCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183873-'27-34,'27-33,28-34=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=0.666 C2=0.000
Domain overlap (PFAM):
C1:
PF065128=Na_trans_assoc=FE(20.2=100)
A:
PF065128=Na_trans_assoc=FE(15.2=100)
C2:
PF065128=Na_trans_assoc=PD(16.7=84.6)
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:
CCTCCGGATTCCAGGACCTG
R:
AATGTCTCGAACCAGCTGTGC
Band lengths:
244-365
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains