HsaEX6024179 @ hg38
Exon Skipping
Gene
ENSG00000007314 | SCN4A
Description
sodium voltage-gated channel alpha subunit 4 [Source:HGNC Symbol;Acc:HGNC:10591]
Coordinates
chr17:63971162-63972225:-
Coord C1 exon
chr17:63972136-63972225
Coord A exon
chr17:63971722-63971850
Coord C2 exon
chr17:63971162-63971253
Length
129 bp
Sequences
Splice sites
3' ss Seq
GCCGGCCCTCTCCCCCCCAGGTA
3' ss Score
11.38
5' ss Seq
GGCGTGAGC
5' ss Score
2.44
Exon sequences
Seq C1 exon
GCTGTTCAGCATGTTCATCATGATCACCATCTTGACCAACTGCGTATTCATGACCATGAGTGACCCGCCTCCCTGGTCCAAGAATGTGGA
Seq A exon
GTACACCTTCACAGGGATCTACACCTTTGAGTCCCTCATCAAGATACTGGCCCGAGGCTTCTGTGTCGACGACTTCACATTCCTCCGGGACCCCTGGAACTGGCTGGACTTCAGTGTCATCATGATGGC
Seq C2 exon
GTACCTGACAGAGTTTGTGGACTTGGGCAACATCTCAGCCCTGAGGACCTTCCGGGTGCTGCGGGCCCTCAAAACCATCACGGTCATCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000007314-'2-3,'2-2,4-3=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=PU(0.7=6.5)
A:
PF0052026=Ion_trans=FE(14.9=100)
C2:
PF0052026=Ion_trans=FE(10.8=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GCTGTTCAGCATGTTCATCAT
R:
CTGGGATGACCGTGATGG
Band lengths:
182-311
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains